Characteristic Diseases
1st line tx for a fibrillation is : Digoxin
how does digoxin help in a fibrillation ? decreases conduction through AV node
treatment for C. difficile metronidazole
why doesn't gentamicin work for C. diff? gentamicin = aminoglycoside that only works for gram (-) infections
most common cause of drug-induced thrombocytopenia : heparin
anticoagulant associated with development of ProC deficiency : warfarin
kernicterus can result when pregnant women are given (TMS)___ in the third trimester TMP-sulfa
associated with \\\\\\\\\\\\\\\"gray baby syndrome\\\\\\\\\\\\\\\" when given to pregnant women : chloramphenicol
topical ointment often used in the prophylaxis of infections in burn patients: silver sulfadiazine cream
appropriate pharmacologic tx for DIC : heparin
antidote for acetaminophen OD : acetylcysteine
chelating agent used to treat OD with copper, lead, gold, and other metals: penacillamine
given to people who OD( overdose) on heparin protamine Sulfate.
acetylcholinesterase reactivator used in organophosphate poisoning : pralidoxime
antiarrythmic which can cause drug-induced lupus: procainamide
other drugs that can cause drug-induced lupus : hydralazine, quinine, INH, methyldopa
drug that causes release of factor VIII from storage sites: desmopressin
drug that specifically inhibits the translocation in CML: imanitib mesylate (Gleevac)
neurotransmitter affected by sertraline : serotonin (SSRI)
type of antibiotic likely to exacerbate MG( Myastenia Gravis) aminoglycosides (risk for neuromuscular blockade)
drug used to diagnose MG : edrophonium
most appropriate treatment of Klebsiella pneumonia : cefotaxime IV
most appropriate treatment of Legionella pneumonia : erythromycin IV
drugs that potentiate the effects of warfarin : quinolones, erythromycin, sulfas, and metronidazole
mucolytic used in the treatment of CF( Cystic Fibrosis) : N-acetylcysteine
tricyclic antidepressant which may cause hyperprolactinemia: nortriptyline
anti-Parkinson\\\\\\\\\\\\\\\'s drug that affects dopamine: selegiline
mechanism of selegiline:Monoamine Oxidase B inhibitor( MAO-B inhibitor ) _ (slows metabolism of dopa)
ß- 1 blocker which does NOT exacerbate asthma (3) atenolol, metoprolol, esmolol
Atenolol - Clinical Pharmacology
Atenolol is a beta1-selective (cardioselective) beta-adrenergic receptor blocking agent without membrane stabilizing or intrinsic sympathomimetic (partial agonist) activities. This preferential effect is not absolute, however, and at higher doses, Atenolol inhibits beta2-adrenoreceptors, chiefly located in the bronchial and vascular musculature.
two main Abx used for anaerobes metronidazole and clindamycin. Abx( Antibiotics).
streptokinase binds to : plasminogen
mechanism of cocaine blocks reuptake of NE
two drugs that increase the activity of lipoprotein lipase gemfibrozil and clofibrate
two drugs that act as bile acid sequestrants cholestyramine and colestipol
aminocaproic acid is indicated for : control of bleeding by hyperfibrinolysis, and prophylaxis in hemophiliacs undergoing a surgical procedure
what causes hemolysis in G6PD deficient individuals? oxidative stress (low NADPH means glutathione cannot scavenge free radicals)
1st-line rx for panic disorder SSRI
reserved for refractory cases of schizophrenia due to risk of agranylocytosis clozapine
inappropriate laughter, scleral injection, tachycardia, and paranoia are typical of a person using what illicit substance? cannabis
1st-line rx for DVT IV heparin
1st-line rx for hypothyroidism levothyroxine
contraindication for levothyroxine use CAD (enhances β-adrenergic effects; may precipitate MI)
toxicities of methotrexate liver, renal, BM
after CLL chemotherapy, patients are at risk for what type of kidney stones? uric acid
alcoholics have (increased/decreased) levels of theophylline decreased (EtOH induces P450)
name the K+ sparing diuretics spironolactone, triamterene, amiloride
drug class of salsalate NSAID (salicylate)
effect of ammonium chloride on the urine acidifies
interaction of ammonium chloride and salicylates salicylate toxicity (amm chloride inhibits excretion)
mechanism of flutamide comp antagonist at androgen receptors
mechanism of finasteride 5- a reductase inhibitor
Class I antiarrhythmics block ___ sodium channels
Name some class I antiarrhythmics quinidine (A), amiodarone (A, III), procainamide (A), lidocaine (B), flecainide ©
Class II antiarrhythmics block ___ beta-adrenergic receptors
Class III antiarrhythmics block ____ potassium channels
Name some class III antiarrhythmics sotalol (also β), amiodarone, bretylium
Class IV antiarrhythmics block ___ calcium channels
Name some class IV antiarrhythmics verapamil, diltiazam
mechanism of metoclopromide antagonist at D receptors
use of metoclopromide prokinetic agent used in GERD and diabetic gastroparesis
contraindication for metoclopromide (2) bowel obstruction, Parkinson\\\\\\\\\\\\\\\'s
necrosis of the skin can be a toxicity of what anticoagulant? warfarin
drug given for acute gouty attacks colchicine
xanthine oxidase inhibitor used in gout allpurinol
increases the excretion of uric acid (2) probenacid, sulfinpyrazone
define REM rebound some drugs steal REM; when removed, body has more REM, including vivid dreams
drugs that cause REM rebound when withdrawn barbiturates, EtOH, MAOI, phenothiazines
mechanism of caffeine inhibition of phosphodiesterase (prevent cAMP degradation)
carbonic anhydrase inhibitors can lead to what acid-base disturbance? metabolic acidosis
close a PDA with : indomethacin
class of drugs that must be given to a patient in a fib and WHY anticoagulants; because the flow in the atrium is nonlaminar and predisposes to mural clots
inhaled corticosteroids are associated with ___ in asthmatic patients (microbial infxn) candidiasis
these cardiac drugs \\\\\\\\\\\\\\\"mask\\\\\\\\\\\\\\\" the initial sx of hypoglycemia and are thus contraindicated in diabetics β blockers
analgesic of choice for acute cholecystitis and WHY meperidine; least likely to cause spasm of sphincter of Oddi
initial drug of choice for acute status epilepticus diazepam
indications for carbamazepine prophylaxis and treatment of tonic-clonic, focal, and complex partial seizures
drug of choice for absence seizures ethosuximide
NSAID that is contraindicated in patients with sulfa allergy celecoxib
location of action of spironolactone collecting tubule
Name some drugs associated with the development of SIADH tricyclics, carbamazepine, SSRI, MAOI, neuroleptics, antineoplastics
post-MI drugs that cause dry cough ACE-I (captopril, enalapril)
two β1-selective antagonists metoprolol and atenolol. Atenolol is a beta1-selective (cardioselective) beta-adrenergic receptor blocking agent.
Metoprolol - Clinical Pharmacology
Metoprolol tartrate is a beta-adrenergic receptor blocking agent. In vitro and in vivo animal studies have shown that it has a preferential effect on beta1 adrenoreceptors, chiefly located in cardiac muscle. This preferential effect is not absolute, however, and at higher doses, Metoprolol also inhibits beta2 adrenoreceptors, chiefly located in the bronchial and vascular musculature.
Clinical pharmacology studies have confirmed the beta-blocking activity of Metoprolol in man, as shown by (1) reduction in heart rate and cardiac output at rest and upon exercise, (2) reduction of systolic blood pressure upon exercise, (3) inhibition of isoproterenol-induced tachycardia, and (4) reduction of reflex orthostatic tachycardia.
Relative beta1 selectivity has been confirmed by the following: (1) In normal subjects, Metoprolol is unable to reverse the beta2-mediated vasodilating effects of epinephrine. This contrasts with the effect of nonselective (beta1 plus beta2) beta blockers, which completely reverse the vasodilating effects of epinephrine. (2) In asthmatic patients, Metoprolol reduces FEV1 and FVC significantly less than a nonselective beta blocker, propranolol, at equivalent beta1-receptor blocking doses.
Metoprolol has no intrinsic sympathomimetic activity, and membrane-stabilizing activity is detectable only at doses much greater than required for beta blockade. Metoprolol crosses the blood-brain barrier and has been reported in the CSF in a concentration 78% of the simultaneous plasma concentration. Animal and human experiments indicate that Metoprolol slows the sinus rate and decreases AV nodal conduction.
In controlled clinical studies, Metoprolol tartrate has been shown to be an effective antihypertensive agent when used alone or as concomitant therapy with thiazide-type diuretics, at dosages of 100 to 450 mg daily. In controlled, comparative, clinical studies, Metoprolol has been shown to be as effective an antihypertensive agent as propranolol, methyldopa, and thiazide-type diuretics, and to be equally effective in supine and standing positions.
The mechanism of the antihypertensive effects of beta-blocking agents has not been elucidated. However, several possible mechanisms have been proposed: (1) competitive antagonism of catecholamines at peripheral (especially cardiac) adrenergic neuron sites, leading to decreased cardiac output; (2) a central effect leading to reduced sympathetic outflow to the periphery; and (3) suppression of renin activity.
By blocking catecholamine-induced increases in heart rate, in velocity and extent of myocardial contraction, and in blood pressure, Metoprolol reduces the oxygen requirements of the heart at any given level of effort, thus making it useful in the long-term management of angina pectoris. However, in patients with heart failure, beta-adrenergic blockade may increase oxygen requirements by increasing left ventricular fiber length and end-diastolic pressure.
Although beta-adrenergic receptor blockade is useful in the treatment of angina and hypertension, there are situations in which sympathetic stimulation is vital. In patients with severely damaged hearts, adequate ventricular function may depend on sympathetic drive. In the presence of AV block, beta blockade may prevent the necessary facilitating effect of sympathetic activity on conduction. Beta2-adrenergic blockade results in passive bronchial constriction by interfering with endogenous adrenergic bronchodilator activity in patients subject to bronchospasm and may also interfere with exogenous bronchodilators in such patients.
mechanism of propythiouracil inhibits peripheral conversion of T4 to T3 (aka inhibit deiodination of thyroxine)
general class of 5HT3 antagonists the -setrons
use for the -setrons antiemetics
indications for dimenhydrinate motion sickness (Dramamine ©)
what is dronabinol? active substance in marijuana
type of leukemia for which chlorambucil is used CLL
the \\\\\\\\\\\\\\\"better drug\\\\\\\\\\\\\\\" than tamoxifen raloxifene
mechanism of amphetamines induce release of dopa and NE
side effects associated with steroid use hypernatremia, hypocalcemia, fluid retention, hypocalcemia, hyperglycemia
indication for bethanechol urinary retention (as in BPH)
oxybutynin is indicated in urinary incontinence and urgency
α1 agonist indicated for both BPH and HTN terazosin
1st drug of choice for community-acquired S. pneumo pneumonia Pen G
lactic acidosis is the most severe complication of this diabetes drug metformin
what is the effect of cimetidine on hepatic enzymes? inhibits them
what is the effect of cimetidine on phenobarbital levels? increases them (inhibits metabolism)
do proton-pump inhibitors affect hepatic enzymes? no
in a patient with ulcers and RA, use … COX-2 inhibitors
what neurotransmitter system do benzodiazepines affect? GABA
drug to treat T. cruzi Nifurtimox
what drug is used for immediate lowering of intracranial pressure? high-potency steroid (dexamethasone, prednisolone)
mechanism of action of amiodarone potassium-channel blocker (also Class IA)
big toxicity of amiodarone pulmonary disease
mechanism of action of warfarin inhibit synthesis of clotting factors (2, 7, 9, 10)
high doses of ____ will reduce morbidity and mortality in measles infxn vitamin A
children DAG + IP3 > pro kin C + increased Ca
what is the second messanger associated with beta receptors? inc adenylate cyclase > cAMP > pro kin C
how does the second messanger system of alpha-2 receptors differ from that associated with beta receptors? both use adenylate cyclase; alpha is inhibitory, beta is stimulatory
D2 receptors have a second messanger system similar to what other receptor? alpha2 (inhibit adenylate cyclase)
what is ergocalciferol? synthetic Vitamin D (for lack of PTH)
antibacterial agent which will be not absorbed if taken with antacids tetracycline
neurotransmitter used at the NMJ Ach
are charged or uncharged drugs more readily taken up? uncharged
illicit drug that causes nystagmus PCP
illicit drug that causes perceptual changes, but not behavioral changes LSD
mechanism of action of losartan competitively inhibits angiotensin II
used in the rx of HTN in diabetic patients ACEI
the effect of enalapril on sodium & potassium balance hyperkalemia and mild hyponatremia
drug of choice for pneumococcal pneumonia Penicillin
two drugs used in pneumococcal pneumonia in patients with sulfa allergies erythromycin or vancomycin
recessed, darkened rings w/o enamel on new teeth can be caused by excess of what mineral? flouride
what class of antidepressants cause delayed ejaculation? SSRI
cancer antimetabolites act during which phase of the cell cycle? S (synthesis) phase
lab studies in a patient given T3 supplementation low TSH, high T3, low T4 (b/c T3 not peripherally converted to T4)
Ca channel blocker that is associated with acceleration of CHF in some patients verapamil
is verapamil a - or + inotrope? -
which antidepressant can cause spontaneous priapism? trazodone
the bug that causes granuloma formation in utero Listeria
leukocytoclastic angiitis is also known as … hypersensitivity angiitis
leukocytoclastic angiitis has been linked to the use of what drug? penicillin
mechanism of action of methoxamine alpha-1 agonist
side effects of methotrexate BM suppression, pulm toxicity, renal toxicity
significant side effect of vinblastine BM suppression, hemmorrhagic colitis
significant side effect of vincristine neurotoxicity
most common cause of drug-induced hypothyroidism lithium carbonate
lente insulins have best effect between __ and __ hours 10 and 16
insulin preparations with long (i.e. 16-24 hours) duration of action ultralente or protamine zinc
peak effect of regular insulin 4 hours
what other insulin preparation has a peak effect similar to regular insulin? semilente
mechanism of action of carvedilol like labetolol - beta and alpha-1 antagonist with longer half-life
ACEI are contraindicated in what type of hypertension? renovascular
local anesthetics block ___ channels while (charged/uncharged) (inside/outside) the cell Na channels when charged inside the cell
livedo reticularis is a common side effect of what anti-Parkinson\\\\\\\\\\\\\\\'s drug? amantidine
sx of livedo reticularis purplish-red mottling of the LE which intensifies with standing
cardioprotective agent used to protect pt against doxorubicin dexrazoxane
clozapine\\\\\\\\\\\\\\\'s advantage over the typical antipsychotics fewer EPS and good for (-) sx
NSAID with the greatest renal toxicity indomethacin
synthetic PG used to prevent NSAID-induced ulcers misprostol
appropriate initial therapy for septic shock dopamine
mechanism of dobutamine alpha-1 and beta-1 agonist
treat pinworm with … mebendazole
orally active lead chelator succimer
mechanism of action of glycopyrrolate anticholinergic (like atropine)
preferred class of drug for panic disorder benzodiazepine
antidepressant used in OCD( Obsessive Compulsive Disorder): clomipramine, SSRIs
Rx for pyelonephitis in patients allergic to sulfa : aminoglycosides
cephalosporins have cross-allergenicity with : penicillins
buspirone: is most often used for the generalized anxiety disorder
why isn\\\\\\\\\\\\\\\'t buspirone used for stage fright or performance anxiety? it takes a long time to take effect
increased zinc protophoryin indicates poisoning with : lead
the effect of aspirin on warfarin displaces warfarin; makes warfarin more potent
drugs that often lead to orthostatic hypotension alpha-1 blockers
nitroprusside works due to what second messanger? NO, which increases cGMP to relax smooth muscle
Is it often or rare that tetracycline resistance accompanies methicillin resistance in S. aureus? often (>75%)
what do we use for methicillin- and tetracycline-resistant S. aureus? use vancomycin
chemotherapeutic agent associated with peripheral neuropathy vincristine
antibiotic which will NOT be absorbed in the presence of antacids tetracycline
overuse of a thiazide diuretic will induce a ____ in aldosterone increase
effect of physostigmine on the eye accomodation and niosis
when acyclovir fails, try … foscarnet
one major side effect of IM fluphenazine is : severe orthostatic hypotension
hyperprolactinemia can be reduced with : bromocriptine
treatment for methemoglobinemia methylene blue
best agent for lowering intracranial pressure mannitol
histologic feature of measles infection syncytia formation
treatment for PCP SMX-TMP
increased amounts of sER indicate that the patient has been taking : a drug that induces P450
mechanism of tolbutamide blocks ATP-sensitive K channels, leading to the release of insulin
pharacologic treatment for enuresis imipramine
maintaining the patency of a ductus arteriosis is done with : misoprostol
schedule of cortisol replacement 20 mg in am and 10 mg in pm
mechanism of finasteride 5-alpha reductase inhibitor
skeletal mm relaxant associated with decreases in BP tubocurarine
mm rigidity, diaphoresis, hyperpyrexia, and altered mental status are typical of what reaction caused by antipsychotics? neuroleptic malignant syndrome (caused by antipsychotics and amoxipine)
common side effects of erythromycin Gi discomfort
which adrenergic receptor best stimulates protein kinase A? beta-1
which beta blocker has weak adrenergic agonist activity? pindolol
the most effective adrenergic drugs for increases intracellular Ca are … alpha-1 agonists
mechanism of action of tyramine releases catecholamines
acute mastitis is treated with … dicloxacillin
strep pneumo is treated with : Penicillin G
treat Clostrium difficile : with metronidazole , vancomycin.
the diuretic class that inhibits Cl transport in the loop of henle loop diuretic (inhibits Na-K-Cl transporter in thick ascending limb)
what type of drug would enhance the reflex change in HR produced by IV norepi? cholinergics, e.g. neostigmine
the mechanism of contraceptive effect in testosterone is : inhibition of LH release from the pituitary
drug of choice for trichuriasis mebendazole
drug of choice for OCD clomipramine, SSRIs
long-term use of broad-spectrum Abx can cause a deficiency in what vitamin? vitamin K
what cell produces NO? capillary endothelium
why is PenG ineffective against most gram (+) organisms? outer cell membrane acts as a sieve to keep out large molecules like Pen G
non-pharmacologic tx for patient with stress incontinence strengthen the urogenital diaphragm
mechanism of action of belladonna alkaloids muscarinic antagonists
what is cycloplegia? paralysis of the ciliary mm (accomodation affected)
the radial mm is innervated by : alpha-1 adrenergics
the ciliary mm is innervated by : muscarinics
role of the radial mm changes pupil size
expected effect of phenylephrine on accomodation and pupil size no affect on accomodation (ciliary mm = muscarinics); mydriasis
the tx for neostigmine overdose is : atropine (pralidoxime won\\\\\\\\\\\\\\\'t work because neostigmine irreversibly carbamoylates)
effect of dig on intracellular Na and K levels Na increases; K decreases
main virulence factor of group B strep capsule to prevent phagocytosis
how does one eradicate spores? autoclaving (wet heat for 15 minutes)
effect of TMP-SMX on warfarin displaces warfarin; makes warfarin more potent
most rational drug regimen for fast metabolizers normal loading dose, increased maintenance dose
10% of patients taking ___ show increased CK and myalgias after exercise statins
how to distinguish propanolol, nadolol, and pindolol YOU CAN\\\\\\\\\\\\\\\'T! They are all the same.
used to prevent bone loss in a 30 yo woman with recent oophorectomy/hysterectomy estrogens (oral Ca not as effective)
drug of choice for iron poisoning deferoxamine
EtOH use increases the serum concentration of what lipoprotein? HDL (this is why it is cardioprotective)
diuretics often trigger what acid-base abnormality? metabolic alkalosis (with low K and high HCO3)
the appropriate therapeutic interventions for a patient who stepped on a nail but who has not had a tetanus shot in over 10 years both toxoid (booster) and antitoxin
the intervention for a patient who stepped on a nail who has current tetanus shots booster toxoid shot
treatment for AIDS patient (taking RT inhibitors and protease inhibitors) with anemia EPO
Characteristic Disease
1 wrist drop (inability to extend the wrist and fingers) caused by damage to what nerve? radial nerve (posterior chord of BP)
2 this nerve supplies the flexors of the arm and is cutaneous in the forearm musculocutaneous nerve
3 most intrinsic hand muscles are supplied by what nerve? ulnar nerve
4 order of structures passing behind the medial malleolus (from ant to post) (anterior) tibialis posterior, flexor digitorum longus, posterior tibial aa, flexor hallucis longus (TOM, DICK, AND HARRY)
5 CN from which chorda tympani originates CN VII
6 chorda tympani controls salivation from which glands? sublingual and submandibular
7 parotid is innervated by which nerve? glossopharyngeal (CN IX)
8 median nerve paralysis causes : ¦ ulnar deviation of the hand (unopposed flexor carpi ulnaris innervated by ulnar)
9 innervation of the interossei ulnar
10 ulnar nerve lesion causes : radial deviation of the hand (unopposed flexor carpi radialis innervated by radial)
11 radial nerve paralysis causes : inability to extend the hand against gravity (\\\\\\\\\\\\\\\"wrist drop\\\\\\\\\\\\\\\"), loss of triceps and brachioradialis reflexes
12 what causes cleft lips? failure of maxillary and medial nasal processes to fuse during development
13 occlusion of the gastroduodenal artery would cause : no change (rich supply from various sources)
14 nerve that causes extension of the thumb radial
15 nerve which adducts the thumb ulnar
16 nerve that abducts, rotates, opposes, and flexes the thumb median
17 nerve that runs with the spermatic cord through the inguinal canals ilioinguinal
18 direct inguinal hernias are due to what defect? breakdown of transversus abdominalis aponeurosis and transversalis fascia
19 small bowel receives its blood supply from the : superior mesenteric aa.
20 what embryological defect puts an infant at risk for inguinal hernia? patent processus vaginalis
21 testicular histology shows many Leydig cells, few Sertoli cells, and absent germ cells; patient presents with gynecomastia and small testes Klinefelter\\\\\\\\\\\\\\\'s (46,XXY)
22 what nerve runs through the parotid gland? facial nerve
23 what nerve accompanies the superior laryngeal aa? internal branch of superior laryngeal nn
24 innervation of the superior laryngeal nn mucosa above the vocal folds
25 what is the ventral white commissure? crossing fibers of the spinothalamic tract
26 Cooper\\\\\\\\\\\\\\\'s ligaments connect: mammary glands to the dermis of overlying skin
27 alternative name for inguinal ligament Poupart\\\\\\\\\\\\\\\'s ligaments
28 multiple small openings in the depressed area of the nipple are : lactiferous ducts
29 # of lobes in every breast 10 to 15
30 derivatives of the uteric bud collecting ducts, calyces, renal pelvis
31 patients with verbal difficulties most likely have a lesion in which hemisphere? left
32 artery that supplies the distal lesser curvature of the stomach right gastric
33 movements mediated by the trapezius mm elevation of the acromion (upper fibers) and depression of the medial scapula (lower fibers)
34 on what day of embryonic life is the notochord formed? 17
35 during what week can a fetus move? 8 weeks gestation
36 the incision for a saphenous cutdown should be located : anterior to the medial malleolus
37 the structure immediately medial to the insertion of the biceps (near the elbow) is : ¦ brachial artery
38 role of MIF( Mullerian Inhibitory Factor) in development suppression of paramesonephric ducts
39 the only mm that can elevate the eye in the abducted position is the … superior rectus
40 embyronic origin of the thyroid foramen cecum
41 the first pharyngeal pouch develops into : middle ear, eustacian tube
42 the second pharyngeal arch develops into the of face, styloid process of temporal bone
43 the third pharyngeal pouch develops : into thymus, inferior parathyroids
44 which mm lowers the jaw? lateral pterygoid
45 what CN(s) come(s) through the foramen ovale? What branch? V3
46 what CN(s) come(s) through the foramen rotundum? V2
47 what CN(s) come(s) through the superior orbital fissure? III, IV, V1, VI
48 which two CNs come through the internal acoustic meatus? VII, VIII
49 which three CNs come through the jugular foramen? XI, X, XI
50 which CN(s) come(s) through the cribriform plate? I
51 nerve that innervates all the thenar mm median
52 the medial aspects of the cerebral hemispheres are supplied by which aa? anterior cerebral
53 location of the AV node subendocardium of the interarterial septum
54 location of SA node wall of the right atrium
55 innervation of the stapedius facial (CN VII)
56 the heart begins to beat at what week of gestation? 4th
57 the heart is fully formed by what week of gestation? 6th
58 what muscle might avulse the lesser trochanter from the femur, resulting in fracture? psoas major
59 3 mm that insert into the greater trochanter of the femur gluteus minimus and medius, piriformis
60 most common form of ASD results from … failure of fusion of the septum primum and secundum
61 type of epithelium contained in the distal esophagus nonkeratinized stratified squamous
62 the median nerve is formed by which cords of the brachial plexus? lateral and medial
63 the medial nerve runs between which two tendons on the anterior aspect of the forearm? palmaris longus and flexor carpi radialis
64 the smooth part of the right ventricule is derived from : bulbus cordis
65 the smooth part of the right atrium is derived from : sinus venosus
66 the truncus arteriosis develops into … the proximal pulm aa and ascending aorta
67 lesion results in inability to dorsiflex and inversion of the foot when relaxed common peroneal nerve lesion
68 A patient\\\\\\\\\\\\\\\'s tongue deviates toward the right. What mm and nerve are affected? right hypoglossal (CN XII); right genioglossus
69 what is the role of the hyoglossus mm? retracts the tongue
70 information carried by the dorsal column system of the spinal cord proprioception, discriminative touch, vibration
71 pseudounipolar cells are derived from the : neural crest
72 Schwann cells are derived from the : neural crest
73 astrocytes and microglia are derived from the : ¦ neural tube
74 path of the superior sagittal sinus along the attachment of the falx cerebri
75 how does a mast cell look on EM? \\\\\\\\\\\\\\\"scroll\\\\\\\\\\\\\\\" inclusions (look like lamellar bodies), cell membrane irregularities, microvilli, evident nucleolus
76 \\\\\\\\\\\\\\\"unhappy triad\\\\\\\\\\\\\\\" medial meniscus, medial collateral ligament, and ACL tear
77 the sensory innervation of the posterior half of the external auditory meatus comes: from auricular branch of the vagus (CN X)
78 sensory innervation of the anterior half of the external auditory meatus auriculotemporal nerve
79 abdominal viscera protrude through the anterior abdominal wall (not covered in skin, etc) when what fails to occur during embryogenesis? failure of fusion of the lateral body folds (4th wk)
80 failure of the yolk stalk to degenerate results in… Meckel\\\\\\\\\\\\\\\'s diverticulum
81 pain from the anterior two-thirds of the tongue is carried to the CNS by : V3
82 taste from the anterior 2/3 of the tongue is carried to the CNS by … VII
83 what is the role of CN IX in taste and pain sensation of the tongue? posterior 1/3 of the tongue (pain & taste)
84 the structure medial to a femoral hernia in a female patient lacunar ligament
85 indirect inguinal hernias pass just lateral to : inferior gastric aa
86 direct inguinal hernias pass just medial to : inferior gastric aa
87 anesthetic injected near the ischial spine will block which nerve? pudendal
88 what nerve runs just anterior to the anterior scalene mm? phrenic nn
89 brain structure involved with formation of memories hippocampus
90 the greater sciatic foramen is occupied by what mm? piriformis
91 what nerve runs through the greater sciatic foramen just caudal to the piriformis? superior gluteal nerve (along with the aa and vv)
92 what nns(Nerves) run through the greater sciatic foramen just below the piriformis? pudendal & sciatic
93 the remnant of the embryological umbilical vein falciform ligament
94 in which part of the small intestine does a Meckel\\\\\\\\\\\\\\\'s diverticulum arise? ileum
95 neurons in the olfactory bulb synapse on which part of the brain? pyriform cortex
96 name the mm that causes internal rotation of the arm at the shoulder subscapularis
97 the inferior rectal nerve is a direct branch of the : pudendal nerve.
98 innervation of the abductor pollicis longus median nn.
99 innervation of the adductor pollicis ulnar nn.
100 mostly unbrached vein existing on the medial side of the leg and continuing upward to meet with the femoral vein saphenous
101 what does the ansa cervicalis innervate? geniohyoid (pulls the hyoid bone anteriorly for swallowing)
102 the inferior mesenteric aa arises from the abdominal aorta directly posterior to what structure? third part of the duodenum
103 the superior mesenteric aa arises from the aorta directly posterior to what structure? neck of the pancreas
104 the ____ contains striated mm NOT under voluntary control esophagus
105 the foramen through which the saphenous vein passes to join the femoral vein fossa ovalis
106 mm that flexes the thigh at the hip psoas major
107 the fasciculus cuneatus carries what kind of fibers from where? proprioception, discriminative touch, vibration from the arms
108 the role of the sER steroid hormone synthesis and detox
109 decreased sensation over the first 3.5 digits of the hand indicates a lesion of : median nn.
110 what mm are supplied by the median nerve? opponens pollicis, abductor pollicis brevis, flexor pollicis brevis, 1st 2 lumbricals, anterior forearm flexors
111 the extensor pollicis longus is supplied by the : (nn) radial nerve
112 backward movement of the jaw during chewing is due to what muscle ? temporalis
113 gap junctions contain : connexons
114 tonofilaments are found in : hemidesmosomes and desmosomes
115 what type of collagen is found in the basal lamina? Type IV (under the floor)
116 the superior opthalamic vein drains into the … cavernous sinus
117 the sigmoid sinus drains into the : IJV( Inferior Jugular Vein)
118 the posterior continuation of the cavernous sinus is the : ¦ petrosal sinus
119 three mm that flex the arm at the elbow biceps, brachioradialis, and brachialis
120 the median nerve passes through the two heads of what mm? pronator teres
121 the coracobrachialis is pierced by the : ¦ MC nerve
122 the flexor carpi ulnaris is pierced by the ¦ ulnar nerve
123 the deep branch of the radial nerve pierces which mm? supinator mm
124 annular pancreas results from a failure in what part of normal development? failure of the ventral pancreatic bud to rotate around the second part of the duodenum
125 pain sensation from the upper part of the posterior pharynx is carred by the : glossopharyngeal (CN IX)
126 the cells that provide myelin in the CNS oligodendrocytes
127 to which nodes is a cancer of the descending colon most likely to metastasize? inferior mesenteric
128 the gastroepiploic lymph nodes drain … the greater curvature of the stomach
129 the superficial inguinal lymph nodes drain ¦ rectum, vagina, and perineum
130 the internal iliac nodes drain ¦ the bladder and male internal genitalia
131 the subpyloric nodes drain ¦ the distal stomach, duodenum, and pancreas
132 upward traction on the upper limb may cause what brachial plexus injury? lower trunk (interossei and thumb problems)
133 two \\\\\\\\\\\\\\\"ligaments\\\\\\\\\\\\\\\" that separate the greater peritoneal sac from the lesser gastrohepatic, hepatoduodenal
134 claw hand is due to ¦ ulnar nerve lesion
135 cord of the brachial plexus from which the ulnar nerve arises medial cord
136 cord of the brachial plexus from which the MC nerve arises lateral cord
137 obturator nerve innervates ¦ mm of medial compartment of the thigh (adductors and gracilis)
138 is the lower trunk of the brachial plexus within the axillary sheath? no > formed in the neck and moves independently
139 hip abduction is mediated by what nerve? superior gluteal nerve
140 nn responsible for knee extension femoral nerve
141 the vertebral artery lies in what \\\\\\\\\\\\\\\"triangle\\\\\\\\\\\\\\\" of the neck? suboccipital
142 margins of the suboccipital triangle inferior & superior oblique, rectus major
143 margins of the posterior triangle of the neck trapezius, SCM, middle 1/3 of clavicle
144 margins of the anterior triangle of the neck neck midline, mandible, and SCM
145 in fetal life, what does the vitelline duct connect? terminal ileum with umbilicus and yolk sac
146 with what structures does the axillary aa travel in the axilla? cords of the brachial plexus (all three)
147 relative to the rib, where do intercostal nn run? in a notch above the rib
148 what is contained in the hepatoduodenal ligament? common bile duct and hepatic vessels
149 what structures are contained in the gastrohepatic ligament? none > can be cut in surgery without sequellae
150 sensation supplied by the median nerve palmer aspects of first 3.5 fingers, and dorsal digits of first 3.5 fingers (including nail beds)
151 nerves that supply sensation to the dorsal aspect of the hand radial (on the thumb side) and ulnar (on the pinkie side)
152 nerve that lies in the posterior tonsillar fossa CN IX
153 the muscles of mastication are derived from what pharyngeal arch? first
154 sensory innervation of the sole of the foot is by the …. posterior tibial nerve
155 nn that supplies the medial mm of the thigh obturator
156 the femoral nerve innervates ¦ the mm of the anterior compartment of the thigh
157 the posterior compartment of the thigh is innervated by … sciatic nerve
158 the uterus develops from the ¦ mesonephric ducts
159 the role of neural crest cells in the development of the heart invade the aorticopulmonary septum
160 retroperitoneal organs descending & ascending colon, duodenum, kidneys, adrenals
161 brief pathway of auditory sensation spiral ganglion > CN VIII > dorsal/ventral cochlear nuclei of the medulla > superior olivary nuceli > lateral lemniscus > inferior colliculus of the midbrain > medial geniculate body of thalamus > auditory cortex
162 the superior colliculus is involved in ¦. eye movements
163 Erb\\\\\\\\\\\\\\\'s palsy results from a lesion of the ¦ upper part of brachial plexus (C5, C6)
164 the facial vein drains into the : cavernous sinus
165 name three structures in the hepatoduodenal ligament common bile duct and hepatic vessels
166 how are the three structures of the hepatoduodenal ligament arranged? portal vein is posterior, bile duct is on right, hepatic aa ( Hepatic Artery)on left
167 mm that elevates the soft palate levator palatini
168 innervation of the mm that elevates the soft palate CN X
169 when the uvula deviates toward the right, the most likely lesion is ¦ left CN X
170 course of the axillary nerve surgical neck of the humerous
171 innervation of the axillary nerve deltoid mm
172 a lesion of the axillary nerve would cause .. inability to raise the arm from the side
173 the posterior descending artery is a branch of the ¦. RCA
174 nerve in the posterior triangle of the neck accessory
175 the pancreas gets its arterial supply from : the celiac aa
176 the ductus deferens and the spermatic cord converge when ¦ they pass through the internal inguinal ring
177 inability to read (alexia), with preservation of the ability to write (agraphia), is indicative of a lesion in the ¦ left occipital cortex and splenium of CC
178 nerve that innervates the dorsum of the foot superficial peroneal
179 anesthesia of the medial surface of the leg suggests a lesion of the : saphenous nerve
180 when a female stands, where does fluid in the abdomen collect? rectouterine pouch (of Douglas)
181 venous place in the body with pressure oscillations of 25/0 RA
182 venous place in the body with no pressure oscillations peripheral veins
183 cell bodies for Pacinian corpuscles reside in ¦ DRG(dorsal root ganglia). pacinian corpuscle
cutaneous mechanoreceptors that sense pressure and stretch
184 depression of the mandible is affected by what nerves? mandibular and facial (digastric) (NOTE: First Aid says that the lateral pterygoid lowers the mandible ¦. You decide)
185 the cremasteric reflex is elicited via what nerve roots? L1, L2
186 a waddling (Trundelberg) gait is indicative of a lesion of the gluteus medius and minimus or the superior gluteal nerve
187 loss of the ability to climb stairs: is indicative of a lesion of gluteus maximum or inferior Gluteal Nerve.
188 lesion of CN III would result in an eye that looks : down and out
189 damage to Meyer\\\\\\\\\\\\\\\'s loop results in a : contralateral superior quadrantanopsia
190 the azygus vein drains the : posterior thoracic wall
191 the azygus vein empties into the : SVC
192 the paramesonephric ducts : give rise to the upper vagina, cervix, uterus, and fallopian tubes
193 the lower vagina develops from the : urogenital sinus
194 what cell in the liver is derived from foregut endoderm? hepatocytes
195 nerve that accompanies the superior laryngeal aa superior laryngeal nerve (internal branch)
196 innervation of the superior laryngeal nn (internal branch) mucosa above the vocal folds
197 nn that provides sensory innervation to the laryngeal mucosa below the vocal folds recurrent laryngeal nerve
198 motor innervation to the cricothyroid superior laryngeal nerve (external branch)
199 what fascia encloses the thyroid gland? pretracheal
200 what is the best place to palpate the dorsalis pedis artery? on the dorsum of the foot, between the tendons of the extensor hallucis longus and extensor digitorum longus
201 lymph from the medial side of the foot drains via : lymphatics near the saphenous vein into the inguinal nodes
202 lymph from the lateral side of the foot drains via: lymphatics near the short saphenous vein into the popliteal nodes
203 what is the gap between the two embryonic atria called? ostium primum
204 what fills the gap between the two embryonic atria? septum primum
205 when the septum primum meets with the ___, the ostium primum is closed endocardial cushions
206 failure of the septum primum to fuse with the cushions results: in a ostium primum-type ASD
207 the ostium secondum usually forms: within the septum primum
208 the results of failure to form the septum secundum fetal death (no hole between atria means no oxygenation for most of the fetus)
209 run through the development of the foramen ovale, etc. ostium primum closed by septum primum > ostium segundum forms > septum primum fuses with endocardial cushions > septum segundum develops
210 the valve of the foramen ovale: is made up of the septum ostium (the part that does not regress)
211 does the septum segundum fuse with the endocardial cushions? no - only the septum primum does
212 the afferent arm of the corneal reflex CN V
213 the efferent arm of the corneal reflex CN VII
214 which nerve provides taste sensation over the anterior portion of the tongue? Facial VII
215 girl fracctures humerus through lateral epicondyle. What nerve might be damaged? radial
216 what type of nerve fibers innervate the radial dilator mm? only sympathetic postganglionic fibers
217 what is the status of the fetal heart once the arms, legs, and extremities are nearly fully formed? nearly fully formed, beating
218 from where does the levator veli palatini originate? petrous portion of the temporal bone
219 wrist drop is caused: by damage to a radial nerve
220 the lingula belongs to what lobe of the lung? left upper lobe
221 neonate with left-sided intestinal hermiation had a structural anomaly of the pleuroperitoneal membrane (most likely)
222 decreased sensation over with posterior portion of the side of the tongue indicates a lesion of what nerve? CN IX
223 oocytes are derived from the yolk sac
224 winged scapula results from lesions of what cervical nerves? C5-C7 (long thoracic nerve)
225 anterior horn motor neurons of the spinal cord are derived from the … basal plate
226 sympathetic plexus that provides pain sensation from the stomach celiac plexus
227 spinal tract that carries two-point touch, vibration, and proprioception dorsal columns
228 where (if anywhere) do the dorsal white columns cross? medullary pyramids
229 spinal tract that carried pain and temperature sensation spinothalamic tract
230 where (if anywhere) does the spinothalamic tract cross? lumbar region
231 where does the corticospinal tract cross? medullary pyramids
232 the smooth part of the right ventricle is derived from the bulbus cordis
233 what is located between the cells of the yolk sac and the cells of the cytotrophoblast in a 14-day blastocyst? extraembryonic mesoderm
234 the adult derivative of the ductus venosus ligamentum venosum
235 the ventromedial nucleus mediates what type of behavior? eating behavior (without it, we starve)
236 the transverse cervical ligament carries what aa? uterine
237 biological methylations are mediated by SAM
238 the splenic aa is located in what ligament? splenorenal
239 what respiratory system component is derived from visceral mesoderm? endothelial cells
240 the artery supplying the anterior aspect of the interventricular septum runs in the … anterior interventricular sulcus (LAD)
241 the cystic aa is a branch of the right hepatic
242 what nerve mediates the cremasteric reflex? genitofemoral
243 Schwann cells are derived from the neural crest
244 what structure gives rise to the greater omentum? dorsal mesentery
245 from where is the spleen derived? embryonic dorsal mesentery
246 name two membranes that hold the ulna and radius together interosseous (big) and annular (small)
247 intention tremor of the ipsilateral extremity would result from a lesion of the cerebellum
248 tremor that improves with purposeful movement indicates a lesion of the basal ganglia
249 a lesion of the frontal eye field would cause deviation of the eyes toward the lesion
250 the urachus is the remnant of the … allantois
251 the urachus connects the apex of bladder to umbilicus
252 branch of the axillary artery that forms an anastomosis with branches of the subclavian subscapular aa
253 hypothalamic nuclei involved with circadian rhythms suprachiasmatic nucleus
254 lymph from the scrotum drains into the superficial inguinal nodes
255 the only laryngeal mm innervated by the superior laryngeal nn cricothyroid
256 most of the laryngeal muscles : are innervated by the recurrent laryngeal nerve
257 lies between the flexor carpi radialis and flexor digitorum superficialis median nerve
258 role of the pupillary sphincter muscle pupillary constriction
259 innervation of the pupillary sphincter mm parasympathetic
260 what mm dilates the pupil? radial dilator mm
261 the blood vessels that supply the skin are located in the deep and superficial dermis (the epidermis does not have vessels)
262 what pores on the cell surface allow the passage of small molecules? gap junctions
263 muscle used to get up from a sitting position gluteus maximus
Characteristic Disease
1 phenotype of cretinism pot-bellied, severely retarded, pale child with glossitis and puffy face
2 gene and chromosome associated with bilateral schwannomas NF-2, chromosome 22q
3 chromosome associated with retinoblastoma and osteosarcoma 13q
4 p53 is located on this chromosome 17q
5 gene and chromosome associated with colorectal cancers APC, chromosome 5q
6 lack of secondary sex characteristics in a male, mild mental retardation Klinefelter\\\\\\\\\\\\\\\'s
7 genetics of Klinefelters nondisjunction of sex chromosomes
8 another name for type 2a lipidemia familial hypercholesterolemia
9 patients with sickle cell often get gallstones made of : calcium bilirubinate
10 genetics of sporadic cases of Duchenne\\\\\\\\\\\\\\\'s MD recombination --> frameshift mutation --> untranslatable mRNA
11 trisomy with polydactyly Trisomy 13 (Patau)
12 the GLUT in fat, skeletal mm, and heart GLUT 4
13 the GLUT found in liver, β cells of pancreas, and basolateral surface of small bowel GLUT 2
14 function of pyruvate carboxylase pyruvate + Acetyl CoA--> OAA + Acetyl CoA
15 activator of pyruvate carboxylase acetyl CoA
16 inheritance of Huntington\\\\\\\\\\\\\\\'s autosomal dominant
17 amenorrhea, short stature, aortic coarctation Turner\\\\\\\\\\\\\\\'s (XO)
18 child normal at birth, but with progressive deafness, blindness, diminished responsiveness, and seizures Tay-Sachs
19 musty body odor + mental retardation PKU
20 what substance accumulates in Tay-Sachs? ganglioside GM2
21 deficiency of lipoprotein lipase causes ___ to accumulate after a high-fat meal chylomicrons
22 deficiency of lipoprotein lipase causes ___ to accumulate after a high-CHO meal VLDL
23 what are p and q in the Hardy-Weinburg equation? p = freq of having the dominant gene, q = freq of having the recessive gene
24 q squared in words frequency of people with the characteristic represented by q
25 significance of 2pq frequency of heterozygosity, or carrier frequency
26 Hardy-Weinberg equations p+q=1, (p+q)^2=1
27 hepatomegaly and hypoglycemia suggest what general category of diseases? glycogen storage disease
28 two diseases that occur at high frequency in Ashkenazic Jews Tay-Sachs and Gaucher\\\\\\\\\\\\\\\'s
29 high-pitched cat-like cry w/ VSD, mental retardation, microcephaly, and slanted palpebral fissures cri-du-chat syndrome
30 glutamine, glycine, and THF are used in the synthesis of which nucleotides? purines (A, G)
31 multiple phenotypic features seen in a patient with a single gene defect pleiotropy
32 purine salvage is affected by what dz? Lesch-Nyhan
33 CHO chains that will be transferred to a protein are synthesized on … dolichol
34 differential transcriptional activity of genes inherited by mom vs dad imprinting
35 lactic acid is the product of what process? anaerobic glycolysis
36 product of β oxidation of fatty acids acetyl CoA
37 products of pentose phosphate shunt (HMP) ribose-5-phosphate and NADPH
38 hepatomegaly with progressive neurologic dysfunction suggests what general category of disease? lipid storage disease
39 Neimann-Pick results from a deficiency in … sphingomyelinase
40 corneal opacities, neuropathy, and violacious nodules on skin; transmission is X-linked Fabry\\\\\\\\\\\\\\\'s disease
41 Name some X-linked diseases Fabry\\\\\\\\\\\\\\\'s, Hunter\\\\\\\\\\\\\\\'s, DMD, BMD, G6PD, Lesch-Nyhan, ocular albinism
42 onset of preeclampsia before the 20th week of pregnancy hydatidiform mole
43 fasting hypoglycemia and hypoketosis together suggest what general category of disease? deficiency in fatty acid oxidation
44 role of LCAD 1st step in fatty acid oxidation
45 what substance accumulates in LCAD deficiency? carnitine esters
46 activity of what heart enzyme should be increased in cocaine toxicity? PFK-1 (cocaine --> vasoconstriction of epicardial aa --> glycolysis --> increased PFK-1)
47 what causes the mutations of DMD and BMD? insertions or deletions
48 mature fetal tissue containing Barr bodies suggests ¦ Klinefelter\\\\\\\\\\\\\\\'s
49 Barr bodies are seen in anyone with 2 X chromosomes (including normal XX females)
50 why does the body need carnitine? it transports fatty acids across the inner mitochondrial membrane for oxidation
51 clinical features of fructosuria none - asx
52 Clinitest measures ___ in urine reducing sugars (glucose, fructose, galactose)
53 in autosomal dominant transmission, the first occurrence in a family is usually the result of : a new mutation in mom or dad transferred to kid by gamete
54 genetic mutation in acondroplasia fibroblast growth factor 3 (involved in cell signalling)
55 normal cells have __N DNA 2N
56 cells in metaphase of mitosis have __N DNA and __ chromosomes 2N DNA, 46 chromosomes
57 there are 92 chromosomes in which two stages of mitosis? anaphase and telophase
58 gene flow defined exchange of genes among previously-separated populations
59 defined as random fluctuations of gene frequencies among small populations genetic drift
60 aplastic crisis in sickle cell is also called ¦ hematologic crisis
61 causes of aplastic crisis in sickle cell patients parvovirus B19 and folate deficiency
62 name a similarity between thrombin and chymotrypsin. serine proteases
63 name some other serine proteases. thrombin, prothrombin, elastase, plasminogen
64 how do steroids work their magic? bind to intracellular receptors, translocate to nucleus, and alter protein synthesis
65 hCG is in the same family as what 3 other hormones? TSH, FSH, and LH
66 transmission of hemophilia X-linked
67 incidence of G6PD deficiency in African-American males 10%
68 G6PD is the committed step of … hexose monophosphate shunt
69 without G6PD, ____ is lacking NADPH
70 transmission of G6PD deficiency X-linked
71 transmission of the MEN syndromes autosomal dominant
72 transmission of hypertrophic cardiomyopathy autosomal dominant
73 transmission of G6PD deficiency X-linked
74 transmission of pyruvate kinase deficiency autosomal recessive
75 on what chromosome is the deficiency that causes DiGeorge syndrome? 22
76 paternity testing is based on : genetic allotypes
77 laboratory test used to determine if a person has Ab to a particular virus ELISA
78 name the most appropriate lab test to use to determine if a patient with Rb has a heritable form or a sporadic form PCR
79 carnitine acyltransferase II is located on the : inner mito membrane
80 fatty acyl-CoA synthetases are located on the : outer Mitocondrial membrane
81 the triple helix structure of collagen is initially formed in the RER
82 cleavage of propeptides and cross-linking of strands of collagen occurs : extracellularly
83 three common causes for spontaneous abortions Trisomy 16, triploidy, and Turner\\\\\\\\\\\\\\\'s (46,X0)
84 transmission pattern of galactosemia autosomal dominant
85 If nondisjunction at chromosome 21 occurs during meiosis I, the baby will have genotype … both of the chromosomes from the parent w/ nondisjunction, and one chromosome from the normal parent (i.e. ABC)
86 If nondisjunction at chromosome 21 occurs during meiosis II, the baby will have genotype: two identical chromosomes from the parent w/ nondisjunction, and one chromosome from the normal parent (i.e. AAC)
87 define this occurrence: \\\\\\\\\\\\\\\"a single homologous chromosome fails to separate during the first meiotic division\\\\\\\\\\\\\\\" nondisjunction
88 what is the difference between trisomy and triploidy? trisomy = one of the gametes has 24 chromosomes, for a total of 47; triploidy = 69 chromosomes resulting from two sperm + 1 egg
89 define uniploidly the state of having 23 chromosomes (normal)
90 what is the difference between balanced and unbalanced translocations? both are non-homologous chromosomes that exchange genetic material; balanced = no loss or gain of critical material; nonbalanced = loss or gain of critical material
91 the effect of citrate on PFK-1 allosteric inhibitor (when TCA cycle slows down, so must glycolysis)
92 name a few molecules that form vesicles in water amphipathic molecules with hydrophobic tails - phospholipids and sphingolipids
93 name a few molecules that form droplets in water hydrophobic, nonpolar molecules - cholesterol esters and TGs
94 what happens to cholesterol in aqueous solution? it preciptates
95 refers to a failure of paired chromosomes to separate and go to different daughter cells (during mitosis or meiosis) nondisjunction
96 the protein that carries vesicles from the soma of a nerve cell to the end of the dendrite (anterograde transport) kinesin
97 the protein that carries vesicles in a retrograde direction dynein
98 can heavy irradiation of sex gametes cause Down\\\\\\\\\\\\\\\'s syndrome? no - not been proven
99 effect of pyruvate on pyruvate dehydrogenase enzyme activity increases PDH activity (increased pyruvate means increased need for TCA activity)
100 other substances that tend to excite PDH high ADP, high intracellular Ca, decreased ACoA (note these all happen during exercise)
101 what is important about the 3\\\\\\\\\\\\\\\' end of a eukaryotic intron? invariant AG, called the \\\\\\\\\\\\\\\"splice acceptor site\\\\\\\\\\\\\\\"
102 what is important about the 5\\\\\\\\\\\\\\\' end of a eukaryotic intron? invariant GT, called the \\\\\\\\\\\\\\\"splice donor site\\\\\\\\\\\\\\\"
103 proteins that make up gap junctions connexins
104 protein that initiates the formation of zona occludens and desomsomes E-cadherin
105 where in the cell is desmoglein? desmosomes
106 the incidence of an x-linked dz in a male population is equal to : gene frequency in the population
107 to determine if a person is a carried of the CF mutation, what lab test should be done? PCR and gene sequencing for deltaF508(Phenylalanine position # 508 )
108 define heteroplasmy presence of normal AND mutated mitochondrial DNA in one individual
109 a deficiency in clathrin would produce what cellular problems? endocytosis, delivery of lysosomal enzymes to the lysosomes from the Golgi
110 the Go phase of the cell cycle begins during what phase? G1
111 name the phases of the cell cycle (in order, please) G1 > S > G2 > M
112 Hirschprung\\\\\\\\\\\\\\\'s disease results from what embryologic deficit? failure of neural crest cells to end up there
113 why are female carriers of X-linked disorders often mildly affected? X chromosomes are inactivated, and most of the mutant ones are inactive
114 the four required enzymes in gluconeogenesis pyruvate carboxylase, fructose 1,6 bisphosphatase, PEP carboxykinase, glucose 6-phosphatase (Pathway Produces Fresh Glu)
115 enzyme deficiency in Pompe\\\\\\\\\\\\\\\'s disease alpha glucosidase
116 transmission of Wiscott-Aldrich X-linked
117 does pinocytosis require clathrin? no (only receptor-mediated endocytosis)
118 average life span of a patient with Edward\\\\\\\\\\\\\\\'s trisomy 2-3 months
119 melanin is made from what aa? tyrosine
120 patients with tyrosinase deficiency are susceptible to what types of cancer? skin cancers
121 neonate with IUGR and genetic abnormality of the placenta only confined placental mosaicism
122 can ACoA be used to make glucose? NO NO NO NO NO
123 in dieting obese individuals who take in little CHO, where does the glucose come from? (hint: engogenous pathway) glycerol > gluconeogenesis
124 if uracil is high, what urea cycle enzyme is working properly? carbamoyl phosphate
125 dietary deficiency in folate is usually due to … (2) overcooking or old foods
126 the genetic defect in Angelman syndrome deletion of q12 on maternal chromosome 15
127 enzyme deficiency in albinism tyrosine hydroxylase
128 the splice acceptor site is located at the 3\\\\\\\\\\\\\\\' end of the intron
129 the 5\\\\\\\\\\\\\\\' end of an intron has the splice donor site
130 what charge do NH3 groups have at pH=7? (+) charge
131 two basic amino acids lys, arg
132 two acidic amino acids glu, asp
133 what type of receptor is EGF-R? tyrosine kinase
134 nucleotide made from excess carbamoyl phosphate uracil
135 high amounts of glutamine may indicate a deficiency in what urea cycle enzyme? ornithine transcarbamoylase
136 during RNA synthesis, how many ATP equivalents are used to elongate the chain by 1 aa? 4 (tRNA activation, gripping of tRNA, formation of peptide bond, tranlocation)
137 high homocystine and methylmalonate in blood indicate a deficiency in … Vitamin B 12
138 orotic aciduria is a genetic defect in which pathway? pyrimidine metabolism
139 aspartate aminotransferase catalyzes the reaction : an enzyme that catalyzes the reversible transfer of an amino group: Aspartic Acid +a- Ketoglutarate _ will produce Oxaloacetic Acid + Glutamic Acid.
aspartate aminotransferase
an enzyme that catalyzes the reversible transfer of an amino group:
{aspartic acid + alpha-ketoglutaric acid } oxaloacetic acid + glutamic acid}}
requiring the coenzyme pyridoxal phosphate; abbreviated AST. It is present in many tissues and body fluids. The serum concentration is elevated when damage to tissue cells, especially of the heart and liver, causes a release of the enzyme. AST values are also increased in some muscle diseases, such as enzootic muscular dystrophy. The test has limitations because of its lack of organ specificity. Called also (serum) glutamic-oxaloacetic aminotransferase (GOT or SGOT).
140 aspartate aminotransferase requires what cofactor? pyridoxine (vitamin B6) - required by all transaminases
141 methylmalonate is elevated in (B12/folate) and NOT elevated in (B12/folate) deficiency methylmalonate is elevated in B12 deficiency ONLY
142 low transketolase activity is typical of what vitamin deficiencies? folate and B12
143 define the heritability index in words the percentage of a disease for which genes are responsible
144 define the heritability index in numbers/symbols HI = (MZ-DZ)/(100-MZ)
145 on a tree, how to tell the difference between mitochondrial and X-linked recessive X-linked only affects boys; mitochondrial affects boys and girls
146 Na primarily moves between blood and interstitium via … intercellular junctions
147 which lipids are dependent on an essential FA for synthesis? eicosanoids (i.e. PGs)
148 what enzyme releases NH(Ammonia) for use by carbamoyl phosphate? glutamate Dehydrogenase
149 vitamin used by transketolase Vitamin B1 (thiamine)
150 deficiency of all enzymes in what process can lead to hemolytic anemia? glycolysis
151 two glycolysis enzymes that produce NADH 6-phosphogluconate DH and G6PDH
152 what is the role of adenosine deaminase? catalyzes adenosine > inosine
153 when NADH is low and ACoA is high, what is the fate of pyruvate? goes to OAA by pyruvate carboxylase
154 what intermediate of glycolysis is required for fat storage DHAP
155 from where do the NH3 groups in purines come? glutamine donor
156 5 ingredients in purine synthesis CO2, glycine, glutamine, aspartate, formate
157 deamination of cytosine produces … uracil
158 Cori\\\\\\\\\\\\\\\'s disease: is a deficiency of a debranching enzyme
159 degraded first in an apoptotic cell is a 10 nm DNA fibers (\\\\\\\\\\\\\\\"most unwound\\\\\\\\\\\\\\\")
160 how to detect a hemoglobinopathy from amniotic fluid Southern blot
161 activator of ACoA carboxylase for the purpose of fatty acid synthesis citrate
162 restriction sites are usually made up of … palindromes
163 what vitamin deficiency could produce hypertyrosinemia? vitamin C deficiency
164 what shuttle is used to shuttle fatty acids into the mitochondrion for oxidation? carnitine shuttle
165 citrate directly affects which enzyme of glycolysis? PFK-1 (- allosteric inhibitor)
166 differences in phenotype based upon whether the gene came from Mom or Dad is called : imprinting
167 what is the role of clathrin in the cell? receptor-mediated endocytosis, budding from the Golgi (headed to lysosomes/endosomes)
168 incidence in terms of Hardy-Weinberg genetics q^2
169 the carrier frequency is approximated with aq
170 (+)-directed microtubule motor proteins; take stuff from the soma to the axon ends kinesin
171 difference between kinesin and dynein dynein is (-)-directed; takes stuff toward the cell body
172 abnormal ____ ____ can produce tripolar mitoses mitotic spindles
173 what is a chiasma? when two homologous chromosomes align to exchange genetic material
174 CFTR is located on what chromosome? 7
175 # of acetoacetate molecules that can be produced from oxidation of a C11 fatty acid 2
176 two enzymes that may be deficiency in PKU Phe hydroxylase or dihydrobioptein reductase
177 technically an IMINO acid proline
178 what aa should be restricted in the diet of a patient with maple syrup urine dz? ile, leu, val
179 what aa is used in the biosynthesis of purines? glutamine
180 O-linked glycosylation of proteins occurs in the … Golgi
181 porphyrins are synthesized from : glycine + Succinyl CoA
182 how many ATP are made from complete oxidation of one glucose to Co2 + H2O? 38
183 niacin is required in which TCA cycle reaction? isocitrate DH
184 von Gierke\\\\\\\\\\\\\\\'s disease results from a lack of glucose-6-phosphatase (autosomal recessive)
185 succinate DH is found on the the inner mito membrane
186 most common cause of hereditary hyperammonemia deficiency of carbamoyl phosphate synthetase I
187 treatment of DNA with micrococcal nuclease will result in … DNA bound to octamer of histones
188 muscle uses ___ for energy during starvation fatty acids
189 during starvation, glucose is \\\\\\\\\\\\\\\"reserved\\\\\\\\\\\\\\\" for what body system? CNS
190 a patient with Down\\\\\\\\\\\\\\\'s phenotype but 46 chromosomes on karyotype analysis probably had what occur to their chromosomes? Robertsonian translocation
191 a mixture of cells with 46 or 47 chromosomes on karyotypic analysis indicates … mosaicism (occurs in 1% of Down\\\\\\\\\\\\\\\'s patients)
GENETICS
Chromosomes
Humans have 22 pairs of homologous chromosomes (autosomes) and 2 sex chromosomes.
Homologous means the same chromosomes have the same genes but may have different versions (alleles) of these genes.
The X and Y chromosomes (sex chromosomes) are not homologous.
Each gene is represented by a pair of alleles
A homozygous condition occurs when both alleles are identical.
A heterozygous condition occurs when both alleles are different.
Chromosomes are numbered according to size, with 1 being the largest and 21 being the smallest (actually 22 is a little larger than 21, but it was numbered before resolution improved enough to notice!).
The sex chromosomes are labeled X and Y and are numbered after Chromosome 22; this position does not correlate to size.
When autosomes are arranged numerically by size followed by the sex chromosomes, this is called a karyotype.
A karyotype is produced when autosomes are arranged numerically by size followed by the sex chromosomes.
A karyotype is designated as the total number of chromosomes followed by the sex chromosomes, i.e. 46, XX or 46, XY.
Chromosomes are divided by a centromere into \\\\\\\\\\\\\\\"p\\\\\\\\\\\\\\\" arms and \\\\\\\\\\\\\\\"q\\\\\\\\\\\\\\\" arms, with p (think \\\\\\\\\\\\\\\'petite\\\\\\\\\\\\\\\') being the shorter arm and q being the longer arm.
The centromere lies between the p and q arms.
The location of the centromere defines the chromosome as follows:
o Metacentric: p and q arms are of approximately equal lengths
o Submetacentric: the centromere falls nearer to one end of the chromosome than the other
o Acrocentric: the centromere is near the terminus
o Telecentric: the centromere is near the terminus
Modes of Inheritance
Mendelian Inheritance
Autosomal Dominant
The allele is expressed in both homozygous and heterozygous conditions.
Most alleles segregate randomly during gamete formation.
Characterisitcs of transmission, (i.e. inheritance, of a dominant allele) are:
o affected children have an affected parent
o males and females are affected in equal numbers
o each child of an affected parent has a 50% chance of inheriting the abnormal allele.
o it occurs in every generation
Autosomal Recessive
The allele is expressed in the homozygous condition only.
Patients are homozygous for the disorder.
Characteristics of transmission of a recessive allele are:
o generally, parents of an affected individual do not express the recessive allele, (i.e. they are heterozygous for the allele.)
o two heterozygous parents have a 25% chance of having an affected child.
o affected parents have only affected children.
o it affects males and females in equal numbers.
o it may not be present in successive generations.
• Once it is known that two recessive alleles for a particular condition are not present because the individual does not demonstrate the disorder, there is 66% chance the individual is heterozygous for one normal and one abnormal allele, and 33% chance of being homozygous for two normal alleles.
X-linked
The X Chromosome carries many important alleles that have no counterpart on the Y Chromosome.
Males carry one X Chromosome, with single alleles of each gene, while females have two alleles for each gene.
Generally, all alleles on the X Chromosome are expressed in males whereas the situation in females is not as straightforward.
In inheritance:
o males pass X-linked alleles to all daughters, but not to sons.
o females pass X-linked alleles to 50% of their sons and daughters.
X-linked expression can be dominant or recessive, but since males only have one X-chromosome, they express the disorder either way.
Expression may be affected by penetrance and expressivity.
o an individual may possess a combination of alleles that should be expressed, but a proportion of these individuals has no expression - in these cases, penetrance is incomplete or reduced; expression of alleles as expected in all cases is known as \\\\\\\\\\\\\\\'complete penetrance\\\\\\\\\\\\\\\'
o the expression of alleles has variable presentations - for example Café -au-lait spots may occur in different numbers and positions among the same family members - this demonstrates variable expressivity.
Non-Mendelian Inheritance
Mitochondrial
Sometimes called \\\\\\\\\\\\\\\'maternal inheritance\\\\\\\\\\\\\\\',
o mitochondria are cellular organelles containing their own DNA (mtDNA). Unlike nuclear DNA that is inherited from both parents, mitochondria are inherited only through the mother via cytoplasm in the ova.
o each somatic cell contains mtDNA.
o some mtDNA may develop independent mutations.
o cells with only one type of mtDNA are homoplasmic.
o cells with mutant and non-mutant mtDNAs are heteroplasmic.
o as the amount of mutant mtDNA increases, a threshold is reached and the cell no longer compensates with the non-mutant mtDNA; a disease occurs.
Uniparental Disomy (UPD)
Both homologous chromosomes come from one parent rather than one chromosome from each parent.
This usually results from nondisjunction and then loss of the third chromosome (rescue) during meiosis.
Genomic Imprinting
Some alleles are expressed only if they are inherited from a specific parent. The general mechanism of imprinting is methylation to down-regulate expression of a gene. Consequences of imprinting are seen when:
o one allele is imprinted and the other allele is nonfunctional, (i.e. deleted or mutated)
o UPDs have both alleles down-regulated;
o both alleles are imprinted.
Triplet Repeats
Di- or trinucleotides become amplified during gametogenesis and amplification occurs preferentially in a specific parent of origin.
A threshold number of repeats will result in an abnormal presentation.
Amplifications may occur in the 5\\\\\\\\\\\\\\\' promoter region of the gene, an exon, an intron, or the 3\\\\\\\\\\\\\\\' region of the gene.
Mosaicism
Different cells have different karyotypes.
The total karyotype reflects the individual cell karyotypes, for example, 45,X/46,XX:
o this, however, does not imply the percentage of cells with each karyotype.
o the greater the abnormal karyotype percentage, the worse the clinical presentation.
Common Genetic Disorders
Autosomal dominant
Marfans Syndrome
A mutation in the fibrillin gene.
Presenting symptoms include tall stature, arachnodactyly, scoliosis, high-risk of dissecting aortic aneurysm, ectopic lentis, and emphysema.
Beckwith-Weidemann syndrome
One of the most common congenital overgrowth syndromes.
Congenital findings include macroglossia, omphalocele, gigantism, hemihypertrophy, advanced bone age, visceromegaly, microcephaly, renal medullary dysplasia, facial nevi, and distinctive ear creases.
Correct diagnosis is important because patients are at an increase risk for neoplasia.
Patients must be monitored for hypoglycemia and hypocalcemia.
Osteogenesis imperfecta, type I
The most common form of osteogenesis imperfecta is caused by a reduction in Type I procollagen.
Patients have skeletal osteopenia, fractures that may be present at birth, and blue sclerae throughout life.
Ehlers-Danlos syndrome
A mutation in Type V collagen.
Patients present with skin hyperextensibility, joint hypermobility, and abnormal wound healing.
Autosomal recessive
Cystic Fibrosis
The most common autosomal recessive disease.
Caused by a mutation in the CFTR gene.
The mutation leads to an ineffective chloride transporter.
Over 900 mutations cause variable expression of disease.
Presenting symptoms include meconium ileus, bronchiectasis, pancreatic problems, and pseudomonas pneumonia.
Phenylketonuria (PKU)
A mutation of the phenylalanine hydroxylase gene (PAH) gives rise to classical PKU.
Nonclassical forms arise with other mutations in the phenylalanine to tyrosine pathway affecting the level of tetrahydrobiopterin.
Phenylalanine diet restriction after birth will avoid serious mental retardation and neurological sequelae.
Galactosemia
The inability to utilize galactose found in milk.
Galactose is not converted to glucose by galactose-1-phosphate uridyl transferase and accumulates in tissues.
Infants suffer from malnutrition and failure to thrive if a galactose-free diet is not initiated after birth.
Hurler Syndrome :
The most severe of the mucopolysaccharidoses, this results from a mutation in alpha-L-iduronidase.
Heparin and dermatan sulphate cannot be degraded and accumulate in tissues and urine.
Trisomy - three of the same chromomsome resulting from nondisjunction
Downs Syndrome
Trisomy 21
The most common chromosomal cause of mental retardation
Patients have 3 copies of chromosome 21.
It is the most common cause of mental retardation.
Patients present with simian crease, brushfield spots, epicanthal folds, and congenital heart problems, and Alzheimer\\\\\\\\\\\\\\\'s disease by age 40.
Can also occur from a translocation, but this is less common.
Edward\\\\\\\\\\\\\\\'s Syndrome
Trisomy 18
Patients have 3 copies of chromosome 18.
Leads to mental retardation, rocker-bottom feat, congenital heart problems, and flexion deformities.
Most patients die by age 1 year.
Associated with increased maternal age at birth.
Patau\\\\\\\\\\\\\\\'s Syndrome
Trisomy 13
Three copies of chromosome 13
Present with mental retardation, cleft lip, cleft palate, polydactyly, and congenital heart problems.
Patients generally die by age 6 months.
Klinefelter\\\\\\\\\\\\\\\'s Syndrome
Sex Chromosome (47,XXY).
One of the most common forms of primary hypogonadism and infertility in males.
These patients are genetically male and present with hypogonadism, tall stature, abnormal upper:lower body ratio and gynecomastia.
Monosomy
The presence of only one member of a homologous chromosome pair
Results from nondisjunction.
Turner\\\\\\\\\\\\\\\'s Syndrome
Sex Chromosome (45,X).
The most common cause of primary amenorrhea.
Non-disjunction of the sex chromosome during Meiosis.
Patient presents with streak gonads, webbed neck, short stature, and poorly developed genitalia.
Patients are also at increased risk for coarctation of the aorta, diabetes, autoimmune disorders, and inflammatory bowel disease.
X-linked
Duchenne Muscular Dystrophy (DMD)
An X-linked disorder that affects only males.
The mutation leads to the absence of the dystrophin protein needed to keep skeletal muscle cells intact.
Patients present with generalized weakness and muscle wasting in hips, pelvic region, thighs, and shoulders.
Calves often are enlarged (pseudohypertrophy)
Becker\\\\\\\\\\\\\\\'s Muscular Dystrophy
An X-linked disorder affecting males only.
Compared to DMD it has a later onset (2-16 years of age), but the symptoms are similar, though less severe and progress more slowly.
Hemophilia A
X-linked disease leading to a deficiency of Factor VIII, which leads to blood clotting problems.
Affects only males and presents with a history of hemorrhage, hematuria and hemarthrosis.
Hemophilia B
X-linked disease leading to a deficiency of Factor IX.
Similar to Hemophilia A, but milder.
Lesch-Nyhan disease
A mutation in the HGPRT gene. The enzyme is necessary for the recycling of purine components and the mutation leads to a build-up of purine degradation byproducts.
Symptoms begin to present at 3-6 months of age.
Most prominent symptom is self-mutilation, along with mental retardation, gout and orange uric acid crystals in the urine.
Mitochondrial
MELAS - Mitochondria Encephalomyopathy with Lactic Acidosis and Stroke-like episodes.
The most common mutation is in tRNALeu.
This mutation causes reduced activity of mitochondrial Complexes I and IV that lead to respiratory chain dysfunction.
Lactic acidosis occurs in the blood and CSF.
Cerebral necrosis and cortical atrophy develop in patients.
Presents with visual defects, blindness, hearing loss, seizures, dementia and loss of consciousness.
Mean age of onset is 10 years.
MERRF - Myoclonic Epilepsy and Ragged Red Fibers.
The most frequent mutations occur in tRNALys (>80%), tRNASer, and tRNALeu.
Lactic acidosis is variable and ragged red fibers in muscle biopsy are a hallmark.
Most frequently presents with myoclonus, epilepsy, ataxia, myopathy and hearing loss.
LHON - Leber Hereditary Optic Neuropathy.
One of three mutations in mitochondrial complex I accounts for approximately 95% of cases.
Optic nerve degeneration leads to central vision loss in 2-8 weeks.
Generally, the first eye is affected followed by the second eye within 6 months.
Mean age of onset varies for each mutation, but the 95th percentile for onset for the three most common mutations is age 50 years.
Triplet Repeats
Fragile X Syndrome
This disorder represents both X-linked inheritance and triplet repeat amplification.
Disease occurs due to a mutation of the FMRP gene promoter on chromosome X, which leads to an increase in the size of the non-coding 5\\\\\\\\\\\\\\\' promoter region of the gene.
Amplification of CGGs provides additional cytosines for methylation and gene downregulation.
Gene product actually prevents disease.
Patients present with mental retardation, long face, large ears, dental problems and large testes.
Huntington\\\\\\\\\\\\\\\'s disease
An autosomal dominant disease.
Has 100% penetrance, and presents with progressive dementia with adult onset.
Amplification of CAG (codes for glutamine) triplet in exon.
Mean age of onset ~40 years.
Patients usually die within 10-15 years of first symptoms.
Myotonic dystrophy
TheIt results from amplification of CTG in the 3\\\\\\\\\\\\\\\' region of the DMPK gene.
Three forms exist - classical, mild, and congenital (the most severe form).
Muscular weakness is apparent early in the neck muscles.
Distal limb muscles are affected and proximal limb muscles remain stronger throughout disease. (Note that with Duchenne and Becker\\\\\\\\\\\\\\\'s muscular dystrophy the proximal muscles are more affected.
Microdeletion Syndromes
Cri du Chat Syndrome
A deletion of the long arm of Chromosome 5.
Patient presents with severe mental retardation, microcephaly, \\\\\\\\\\\\\\\'cry of the cat\\\\\\\\\\\\\\\' sounds, hypertelorism, and low-set ears.
Prader-Willi Syndrome (PWS)
The most common microdeletion syndrome
The most common form of genetic obesity
The first recognized microdeletion syndrome
The first recognized imprinting disorder
The first recognized uniparental disomy disorder.
The multiple modes of inheritance make this an important disorder to know.
The gene responsible is SNRPN on Chromosome 15.
An understanding of imprinting is important to understanding PWS.
Patient presents with hypotonia (pre- and post-natally) followed by hyperphagia.
Hypothalamic hypogonadism, short stature, hypopigmentation, small hands and feet, skin picking, behavioral problems.
Angelman Syndrome
This disorder is often studied along with Prader-Willi syndrome and represents a microdeletion disorder and an imprinting disorder.
The gene responsible is UBE3A on Chromosome 15.
Patients are severely mentally retarded and often mute with inappropriate laughter
Characteristic Disease
1 phenotype of cretinism pot-bellied, severely retarded, pale child with glossitis and puffy face
2 gene and chromosome associated with bilateral schwannomas NF-2, chromosome 22q
3 chromosome associated with retinoblastoma and osteosarcoma 13q
4 p53 is located on this chromosome 17q
5 gene and chromosome associated with colorectal cancers APC, chromosome 5q
6 lack of secondary sex characteristics in a male, mild mental retardation Klinefelter\\\\\\\\\\\\\\\'s
7 genetics of Klinefelters nondisjunction of sex chromosomes
8 another name for type 2a lipidemia familial hypercholesterolemia
9 patients with sickle cell often get gallstones made of … calcium bilirubinate
10 genetics of sporadic cases of Duchenne\\\\\\\\\\\\\\\'s MD recombination --> frameshift mutation --> untranslatable mRNA
11 trisomy with polydactyly Trisomy 13 (Patau)
12 the GLUT in fat, skeletal mm, and heart GLUT 4
13 the GLUT found in liver, β cells of pancreas, and basolateral surface of small bowel GLUT 2
14 function of pyruvate carboxylase : an enzyme concerned in the conversion of pyruvate to oxaloacetic acid.
pyruvate
a salt, ester or anion of pyruvic acid. The term is used interchangeably with pyruvic acid. Pyruvate is the end product of glycolysis and may be metabolized in the body to lactate or to acetyl CoA. In yeast it is metabolized to ethanol.
________________________________________
pyruvate carboxylase
an enzyme concerned in the conversion of pyruvate to oxaloacetic acid.
pyruvate dehydrogenase
actively concerned in the decarboxylation of pyruvate to acetyl CoA and CO2.
pyruvate kinase
a glycolytic pathway enzyme (called also PK) which catalyzes the formation of pyruvate from phosphoenolpyruvate (PEP). A deficiency of the enzyme is a hereditary defect in humans and occurs also in Beagle and Basenji dogs, causing a familial nonspherocytic anemia.
pyruvate transaminase
alanine aminotransferase
an enzyme that catalyzes the reversible transfer of an amino group in the reaction:
{alanine + 2-oxoglutarate pyruvate + glutamate}requiring the coenzyme pyridoxal phosphate. Abbreviated ALT. It is present in high concentrations in hepatocytes of dogs, cats and humans. The serum concentration is elevated, especially when there is acute damage to liver cells, as in viral or toxic hepatitis, and obstructive jaundice. Significant elevation of the serum levels of ALT is a specific indicator of liver damage only in small animals and primates. Called also glutamic-pyruvic transaminase (GPT).
15 activator of pyruvate carboxylase acetyl CoA
16 inheritance of Huntington\\\\\\\\\\\\\\\'s autosomal dominant
17 amenorrhea, short stature, aortic coarctation Turner\\\\\\\\\\\\\\\'s (XO)
18 child normal at birth, but with progressive deafness, blindness, diminished responsiveness, and seizures Tay-Sachs
19 musty body odor + mental retardation PKU
20 what substance accumulates in Tay-Sachs? ganglioside GM2
21 deficiency of lipoprotein lipase causes ___ to accumulate after a high-fat meal chylomicrons
22 deficiency of lipoprotein lipase causes ___ to accumulate after a high-CHO meal VLDL
23 what are p and q in the Hardy-Weinburg equation? p = freq of having the dominant gene, q = freq of having the recessive gene
24 q squared in words frequency of people with the characteristic represented by q
25 significance of 2pq frequency of heterozygosity, or carrier frequency
26 Hardy-Weinberg equations p+q=1, (p+q)^2=1
27 hepatomegaly and hypoglycemia suggest what general category of diseases? glycogen storage disease
28 two diseases that occur at high frequency in Ashkenazic Jews Tay-Sachs and Gaucher\\\\\\\\\\\\\\\'s
29 high-pitched cat-like cry w/ VSD, mental retardation, microcephaly, and slanted palpebral fissures cri-du-chat syndrome
30 glutamine, glycine, and THF are used in the synthesis of which nucleotides? purines (A, G)
31 multiple phenotypic features seen in a patient with a single gene defect pleiotropy
32 purine salvage is affected by what dz? Lesch-Nyhan
33 CHO chains that will be transferred to a protein are synthesized on … dolichol
34 differential transcriptional activity of genes inherited by mom vs dad imprinting
35 lactic acid is the product of what process? anaerobic glycolysis
36 product of β oxidation of fatty acids acetyl CoA
37 products of pentose phosphate shunt (HMP) ribose-5-phosphate and NADPH
38 hepatomegaly with progressive neurologic dysfunction suggests what general category of disease? lipid storage disease
39 Neimann-Pick results from a deficiency in … sphingomyelinase
40 corneal opacities, neuropathy, and violacious nodules on skin; transmission is X-linked Fabry\\\\\\\\\\\\\\\'s disease
41 Name some X-linked diseases Fabry\\\\\\\\\\\\\\\'s, Hunter\\\\\\\\\\\\\\\'s, DMD, BMD, G6PD, Lesch-Nyhan, ocular albinism
42 onset of preeclampsia before the 20th week of pregnancy hydatidiform mole
43 fasting hypoglycemia and hypoketosis together suggest what general category of disease? deficiency in fatty acid oxidation
44 role of LCAD 1st step in fatty acid oxidation
45 what substance accumulates in LCAD deficiency? carnitine esters
46 activity of what heart enzyme should be increased in cocaine toxicity? PFK-1 (cocaine --> vasoconstriction of epicardial aa --> glycolysis --> increased PFK-1)
47 what causes the mutations of DMD and BMD? insertions or deletions
48 mature fetal tissue containing Barr bodies suggests : Klinefelter\\\\\\\\\\\\\\\'s
49 Barr bodies are seen in : anyone with 2 X chromosomes (including normal XX females)
50 why does the body need carnitine? it transports fatty acids across the inner mitochondrial membrane for oxidation
51 clinical features of fructosuria none – asymptomatic( asx)
52 Clinitest measures ___ in urine reducing sugars (glucose, fructose, galactose)
53 in autosomal dominant transmission, the first occurrence in a family is usually the result of a new mutation in mom or dad transferred to kid by gamete
54 genetic mutation in acondroplasia fibroblast growth factor 3 (involved in cell signalling)
55 normal cells have __N DNA 2N
56 cells in metaphase of mitosis have __N DNA and __ chromosomes 2N DNA, 46 chromosomes
57 there are 92 chromosomes in which two stages of mitosis? anaphase and telophase
58 gene flow defined exchange of genes among previously-separated populations
59 defined as random fluctuations of gene frequencies among small populations genetic drift
60 aplastic crisis in sickle cell is also called ¦ hematologic crisis
61 causes of aplastic crisis in sickle cell patients parvovirus B19 and folate deficiency
62 name a similarity between thrombin and chymotrypsin. serine proteases
63 name some other serine proteases. thrombin, prothrombin, elastase, plasminogen
64 how do steroids work their magic? bind to intracellular receptors, translocate to nucleus, and alter protein synthesis
65 hCG is in the same family as what 3 other hormones? TSH, FSH, and LH
66 transmission of hemophilia X-linked
67 incidence of G6PD deficiency in African-American males 10%
68 G6PD is the committed step of … hexose monophosphate shunt
69 without G6PD, ____ is lacking NADPH
70 transmission of G6PD deficiency X-linked
71 transmission of the MEN syndromes autosomal dominant
72 transmission of hypertrophic cardiomyopathy autosomal dominant
73 transmission of G6PD deficiency X-linked
74 transmission of pyruvate kinase deficiency autosomal recessive
75 on what chromosome is the deficiency that causes DiGeorge syndrome? 22
76 paternity testing is based on … genetic allotypes
77 laboratory test used to determine if a person has Ab to a particular virus ELISA
78 name the most appropriate lab test to use to determine if a patient with Rb has a heritable form or a sporadic form PCR
79 carnitine acyltransferase II : is located on the inner mito membrane
80 fatty acyl-CoA synthetases are located on the outer mito membrane
81 the triple helix structure of collagen is initially formed in the … rER
82 cleavage of propeptides and cross-linking of strands of collagen occurs : extracellularly
83 three common causes for spontaneous abortions Trisomy 16, triploidy, and Turner\\\\\\\\\\\\\\\'s (46,X0)
84 transmission pattern of galactosemia autosomal dominant
85 If nondisjunction at chromosome 21 occurs during meiosis I, the baby will have genotype : both of the chromosomes from the parent w/ nondisjunction, and one chromosome from the normal parent (i.e. ABC)
86 If nondisjunction at chromosome 21 occurs during meiosis II, the baby will have genotype : two identical chromosomes from the parent w/ nondisjunction, and one chromosome from the normal parent (i.e. AAC)
87 define this occurrence: \\\\\\\\\\\\\\\"a single homologous chromosome fails to separate during the first meiotic division\\\\\\\\\\\\\\\" nondisjunction
88 what is the difference between trisomy and triploidy? trisomy = one of the gametes has 24 chromosomes, for a total of 47; triploidy = 69 chromosomes resulting from two sperm + 1 egg
89 define uniploidly the state of having 23 chromosomes (normal)
90 what is the difference between balanced and unbalanced translocations? both are non-homologous chromosomes that exchange genetic material; balanced = no loss or gain of critical material; nonbalanced = loss or gain of critical material
91 the effect of citrate on PFK-1 allosteric inhibitor (when TCA cycle slows down, so must glycolysis)
92 name a few molecules that form vesicles in water amphipathic molecules with hydrophobic tails - phospholipids and sphingolipids
93 name a few molecules that form droplets in water hydrophobic, nonpolar molecules - cholesterol esters and TGs
94 what happens to cholesterol in aqueous solution? it preciptates
95 refers to a failure of paired chromosomes to separate and go to different daughter cells (during mitosis or meiosis) nondisjunction
96 the protein that carries vesicles from the soma of a nerve cell to the end of the dendrite (anterograde transport) kinesin
97 the protein that carries vesicles in a retrograde direction dynein
98 can heavy irradiation of sex gametes cause Down\\\\\\\\\\\\\\\'s syndrome? no - not been proven
99 effect of pyruvate on pyruvate dehydrogenase enzyme activity increases PDH activity (increased pyruvate means increased need for TCA activity)
100 other substances that tend to excite PDH high ADP, high intracellular Ca, decreased ACoA (note these all happen during exercise)
101 what is important about the 3\\\\\\\\\\\\\\\' end of a eukaryotic intron? invariant AG, called the \\\\\\\\\\\\\\\"splice acceptor site\\\\\\\\\\\\\\\"
102 what is important about the 5\\\\\\\\\\\\\\\' end of a eukaryotic intron? invariant GT, called the \\\\\\\\\\\\\\\"splice donor site\\\\\\\\\\\\\\\"
103 proteins that make up gap junctions connexins
104 protein that initiates the formation of zona occludens and desomsomes E-cadherin
105 where in the cell is desmoglein? desmosomes
106 the incidence of an x-linked dz in a male population is equal to … gene frequency in the population
107 to determine if a person is a carried of the CF mutation, what lab test should be done? PCR and gene sequencing for deltaF508
108 define heteroplasmy presence of normal AND mutated mitochondrial DNA in one individual
109 a deficiency in clathrin would produce what cellular problems? endocytosis, delivery of lysosomal enzymes to the lysosomes from the Golgi
110 the Go phase of the cell cycle begins during what phase? G1
111 name the phases of the cell cycle (in order, please) G1 > S > G2 > M
112 Hirschprung\\\\\\\\\\\\\\\'s disease results from what embryologic deficit? failure of neural crest cells to end up there
113 why are female carriers of X-linked disorders often mildly affected? X chromosomes are inactivated, and most of the mutant ones are inactive
114 the four required enzymes in gluconeogenesis pyruvate carboxylase, fructose 1,6 bisphosphatase, PEP carboxykinase, glucose 6-phosphatase (Pathway Produces Fresh Glu)
115 enzyme deficiency in Pompe\\\\\\\\\\\\\\\'s disease alpha glucosidase
116 transmission of Wiscott-Aldrich X-linked
117 does pinocytosis require clathrin? no (only receptor-mediated endocytosis)
118 average life span of a patient with Edward\\\\\\\\\\\\\\\'s trisomy 2-3 months
119 melanin is made from what aa? tyrosine
120 patients with tyrosinase deficiency are susceptible to what types of cancer? skin cancers
121 neonate with IUGR and genetic abnormality of the placenta only confined placental mosaicism
122 can ACoA be used to make glucose? NO NO NO NO NO
123 in dieting obese individuals who take in little CHO, where does the glucose come from? (hint: engogenous pathway) glycerol > gluconeogenesis
124 if uracil is high, what urea cycle enzyme is working properly? carbamoyl phosphate
125 dietary deficiency in folate is usually due to (2) overcooking or old foods
126 the genetic defect in Angelman syndrome deletion of q12 on maternal chromosome 15
127 enzyme deficiency in albinism tyrosine hydroxylase
128 the splice acceptor site is located … 3\\\\\\\\\\\\\\\' end of the intron
129 the 5\\\\\\\\\\\\\\\' end of an intron has : the splice donor site
130 what charge do NH3 groups have at pH=7? (+) charge
131 two basic amino acids lys, arg
132 two acidic amino acids glu, asp
133 what type of receptor is EGF-R? tyrosine kinase
134 nucleotide made from excess carbamoyl phosphate uracil
135 high amounts of glutamine may indicate a deficiency in what urea cycle enzyme? ornithine transcarbamoylase
136 during RNA synthesis, how many ATP equivalents are used to elongate the chain by 1 aa? 4 (tRNA activation, gripping of tRNA, formation of peptide bond, tranlocation)
137 high homocystine and methylmalonate in blood indicate a deficiency in : Vitamin B 12
138 orotic aciduria is a genetic defect in which pathway? pyrimidine metabolism
139 aspartate aminotransferase catalyzes the reaction aspartate aminotransferase
an enzyme that catalyzes the reversible transfer of an amino group: {aspartic acid + alpha-ketoglutaric acid } oxaloacetic acid + glutamic acid}} requiring the coenzyme pyridoxal phosphate; abbreviated AST. It is present in many tissues and body fluids. The serum concentration is elevated when damage to tissue cells, especially of the heart and liver, causes a release of the enzyme. AST values are also increased in some muscle diseases, such as enzootic muscular dystrophy. The test has limitations because of its lack of organ specificity. Called also (serum) glutamic-oxaloacetic aminotransferase (GOT or SGOT).
140 aspartate aminotransferase requires what cofactor? pyridoxine (vitamin B6) - required by all transaminases
141 methylmalonate is elevated in (B12/folate) and NOT elevated in (B12/folate) deficiency methylmalonate is elevated in B12 deficiency ONLY
142 low transketolase activity is typical of what vitamin deficiencies? folate and B12
143 define the heritability index in words the percentage of a disease for which genes are responsible
144 define the heritability index in numbers/symbols HI = (MZ-DZ)/(100-MZ). MZ( Monozygous). DZ( Disease). DZ( Dizygous)
145 on a tree, how to tell the difference between mitochondrial and X-linked recessive X-linked only affects boys; mitochondrial affects boys and girls
146 Na primarily moves between blood and interstitium via the intercellular junctions
147 which lipids are dependent on an essential FA for synthesis? eicosanoids (i.e. PGs)
148 what enzyme releases NH# for use by carbamoyl phosphate? glutamate DH
149 vitamin used by transketolase Vitamin B1 (thiamine)
150 deficiency of all enzymes in what process can lead to hemolytic anemia? glycolysis
151 two glycolysis enzymes that produce NADH 6-phosphogluconate DH and G6PDH
152 what is the role of adenosine deaminase? catalyzes adenosine > inosine
153 when NADH is low and ACoA is high, what is the fate of pyruvate? goes to OAA by pyruvate carboxylase
154 what intermediate of glycolysis is required for fat storage DHAP
155 from where do the NH3 groups in purines come? glutamine donor
156 5 ingredients in purine synthesis CO2, glycine, glutamine, aspartate, formate
157 deamination of cytosine produces : uracil
158 Cori\\\\\\\\\\\\\\\'s disease is a deficiency of : debranching enzyme
159 degraded first in an apoptotic cell is a 10 nm DNA fibers (\\\\\\\\\\\\\\\"most unwound\\\\\\\\\\\\\\\")
160 how to detect a hemoglobinopathy from amniotic fluid Southern blot
161 activator of ACoA carboxylase for the purpose of fatty acid synthesis citrate
162 restriction sites are usually made up of … palindromes
163 what vitamin deficiency could produce hypertyrosinemia? vitamin C deficiency
164 what shuttle is used to shuttle fatty acids into the mitochondrion for oxidation? carnitine shuttle
165 citrate directly affects which enzyme of glycolysis? PFK-1 (- allosteric inhibitor)
166 differences in phenotype based upon whether the gene came from Mom or Dad is called : imprinting
167 what is the role of clathrin in the cell? receptor-mediated endocytosis, budding from the Golgi (headed to lysosomes/endosomes)
168 incidence in terms of Hardy-Weinberg genetics q^2
169 the carrier frequency is approximated with … 2q
170 (+)-directed microtubule motor proteins; take stuff from the soma to the axon ends kinesin
171 difference between kinesin and dynein dynein is (-)-directed; takes stuff toward the cell body
172 abnormal ____ ____ can produce tripolar mitoses mitotic spindles
173 what is a chiasma? when two homologous chromosomes align to exchange genetic material
174 CFTR is located on what chromosome? 7
175 # of acetoacetate molecules that can be produced from oxidation of a C11 fatty acid 2
176 two enzymes that may be deficiency in PKU Phe hydroxylase or dihydrobioptein reductase
177 technically an IMINO acid proline
178 what aa should be restricted in the diet of a patient with maple syrup urine dz? ile, leu, val
179 what aa is used in the biosynthesis of purines? glutamine
180 O-linked glycosylation of proteins occurs in the Golgi Apparatus.
181 porphyrins are synthesized from Aminoacids : glycine + Succinyl CoA
182 how many ATP are made from complete oxidation of one glucose to Co2 + H2O? 38
183 niacin is required in which TCA cycle reaction? isocitrate DH
184 von Gierke\\\\\\\\\\\\\\\'s disease results from : lack of glucose-6-phosphatase (autosomal recessive)
185 succinate DH is found on the : inner mito membrane
186 most common cause of hereditary hyperammonemia deficiency of carbamoyl phosphate synthetase I
187 treatment of DNA with micrococcal nuclease will result in … DNA bound to octamer of histones
188 muscle uses ___ for energy during starvation fatty acids
189 during starvation, glucose is \\\\\\\\\\\\\\\"reserved\\\\\\\\\\\\\\\" for what body system? CNS
190 a patient with Down\\\\\\\\\\\\\\\'s phenotype but 46 chromosomes on karyotype analysis probably had what occur to their chromosomes? Robertsonian translocation
191 a mixture of cells with 46 or 47 chromosomes on karyotypic analysis indicates : mosaicism (occurs in 1% of Down\\\\\\\\\\\\\\\'s patients)
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Characteristic Disease
1 damage to what structure might produce hair cell loss? Organ of Corti
2 physiological changes seen in people living at high altitude stimulation of ‘mitochondria density, pulm vasoconstriction, stimulate the release of EPO, and stimulates : renal bicarb excretion
3 bright reddish-pink acellular area around the graffian follicle zona pellucida
4 in a dehydrated patient, what part of the tubular system of the kidney has the lowest tubular fluid Osm? early distal tubule
5 increased peripheral resistance would occur from stimulating which type of neuron? sympathetic adrenergic
6 sweat glands are innervated by the sympathetic cholinergic neurons
7 CO x TPR = ? mean BP (approximately; exactly = mean systemic pressure - RA pressure)
8 TPR = ? (mean systemic pressure - RA pressure)/CO
9- on a pression-Volume ( P-V) diagram, stroke work is found by an area of the rectangle
10- on a P-V diagram, stroke volume is found by : EDV-ESV
11 major mechanism for controlling extracellular sodium concentration (Osm) ADH
12 major mechanism to retain sodium (do not affect Osm) Angiotensin-aldosterone system (keep Na and water both in, so no effect on Osm)
13 cytoplasmic and nuclear blebbing are features of : apoptosis
14 equation to find renal clearance of any substance CL = (Conc urine)(Vol urine)/(Conc plasma)
15 fenestrated epithelia are a feature of which organ? liver
16 type of pituitary cell that secretes growth hormone somatotrophs
17 inhibitor of growth hormone release somatostatin
18 ADH is released in response to : increased plasma osmolarity
19 three phases of spermatogenesis spermatocytogenesis, meiosis, and spermiogenesis
20 which is more acidic: venous or arterial blood? venous
21 indicator used to assess extracellular space inulin
22 interstitial volume + plasma volume = ? extracellular volume (inulin space)
23 indicator used to assess plasma volume (125)I-albumin (umm yes, albumin stays in the plasma)
24 heavy water is used to assess total body water (umm yes, water distributes throughout the body)
25 decreased blood flow causes the release of (Renin) from the JGA renin
26 oocytes arrest in what phase of differentiation for most of a woman\\\\\\\\\\\\\\\'s life? prophase of meiosis I
27 tubular fluid with the lowest osm is found in the macula densa (border between TAL and DCT)
28 name some things that increase the affinity of hemoglobin for oxygen decreased Co2, decreased 2,3-DPG, decreased body temp
29 what causes the \\\\\\\\\\\\\\\"a\\\\\\\\\\\\\\\" wave on jugular venous tracing? RA contraction
30 what causes the \\\\\\\\\\\\\\\"c\\\\\\\\\\\\\\\" wave on jugular venous tracing? RV contraction (tricuspid valve bulges into atrium)
31 what causes the \\\\\\\\\\\\\\\"v\\\\\\\\\\\\\\\" wave on jugular venous tracing? increased atrial pressure due to filling against closed tricuspid valve (diastole)
32 mannose-6-phosphate is added to proteins in what organelle? Golgi apparatus
33 Giemsa stain is used to identify what type of cell? mast cells
34 lung volume associated with a + airway pressure total lung capacity
35 a brush border exists on which part of the kidney? proximal tubule
36 which hormone induces the change from proliferative to secretory endometrium? progesterone
37 what CV change occurs when one stands from a supine position? increased HR
38 fainting and blurred vision in hyperventilation is due to … reduced cerebral blood flow (decreased pCO2)
39 role of vWF in clot formation binds exposed collagen to circulating platelets
40 reduction in sodium intake will cause renin to : increase
41 Mullerian Inhibitory Factor is secreted by : Sertoli cells (male genotype)
42 what activates 1-alpha-hydroxylase in the kidney? PTH
43 this part of the esophagus has both smooth and striated mm middle third (upper is entirely skeletal, lower is entirely smooth)
44 what type of mm is the UES? cricopharyngeus is skeletal
45 what type of mm is the LES? smooth mm
46 name the products of acidophils from the pituitary GH and prolactin
47 name the products of basophils from the pituitary LH, FSH, ACTH, TSH
48 type of epithelium contained in the distal esophagus nonkeratinized stratified squamous
49 eggs are arrested in ___ until ovulation diplotene stage of meiosis I
50 the largest drop in BP occurs on the course of what type of vessel? arteriole
51 what hormone is secreted in response to ingested (not infused) glucose and increases the output of insulin from the pancreas? gastric inhibitory peptide
52 part of the placenta derived from mom lacunar network
53 parts of the placenta derived from baby chorion (cytotrophoblast, syncytiotrophoblast) and primary villus
54 why does massive damage occur when cartilege is infected? it is avascular, so the blood components to fight the infection cannot get to the site
55 what does isometric mean? muscle contraction without change in length
56 what does isotonic mean? muscle contraction without change in tension (change in length occurs
57 range of blood pH in a neonate of a few minutes 7.11-7.36 (note difference in adults!)
58 range of PO2 in a neonate of a few minutes 8-24 mmHg (really low!)
59 range of pCO2 in a neonate of a few minutes 27-40 mmHg
60 if creation of CO2 remains constant, but ventilation increases by 4-fold, pCO2 : decreases by 4-fold
61 peripheral nerve axons are wrapped in : the Schwann cells
62 the nuceli of spinal nerves are located in the : CNS
63 most of the water reabsorbed by the kidney is reabsorbed in which part? proximal tubule
64 If ADH is really, really high, where is most of the water filtered by the kidney reabsorbed? proximal tubule
65 what covers most microvilli in vivo? glycocalyx
66 trichrome stain is used for … fibrous tissue from nn and mm
67 how does testosterone hang out in the blood? bound to steroid-binding globulins
68 what are implantation receptors? expressed by a fertilized egg in preparation for implantation into the uterus
69 \\\\\\\\\\\\\\\"the acrosome reaction\\\\\\\\\\\\\\\" involves … the egg\\\\\\\\\\\\\\\'s zona pellucida and the sperm\\\\\\\\\\\\\\\'s acrosome
70 TLC-RV = ? FVC
71 what hormone maintains the corpus luteum during the first trimester of pregnancy? hCG
72 name the evolutionary stages of a sperm from spermatogonia to spermatozoa sprematogonia (2N) > primary spermatocyte (4N) > secondary spermatocyte (2N) > spermatid (1N) > (spermiogenesis) > spermatozoa (1N)
73 what happens to vascular resistance in exercising mm? decreases (allows more blood flow)
74 the structure limiting the filling of the ventricles fibrous pericardium
75 the vast majority of coronary aa blood flow occurs during the phase 1, or ventricular filling phase of diastole
76 is T3 converted peripherally to T4? nonkeratinized stratified squamous
77 what is the A band of the sarcomere? region containing the length of the myosin fibers
78 theca cells are stimulated by (LH/FSH) and secrete LH, androgens
79 granulosa cells secrete estrogens (take the androgens produced by the theca cells and aromatize them)
80 granulosa cells are stimulated by (FSH/LH) FSH (stimulates aromatase) AND LH
81 what is the effect of LH on the theca and granulosa cells? both secrete more progesterone
82 most blood volume is contained in which vessels? venules and veins
83 under optimal conditions, nerves can grow at a rate of … 1mm/day
84 labile cells are also known as : continuously dividing cells
85 stable cells are also known as : ¦ quiescent cells
86 secondary lysosomes are found in which three cell types? macrophages, fibroblasts, and epithelium
87 smooth muscle cells are found in what part of an arteriole? media
88 elastin fibers are found in the (3) aorta, vocal cords, and ligamentum flavum (connecting the vertebrae)
89 hormone secreted by the intestine in the fasting state; causes hunger pains motilin
90 an increase in firing rate of afferent CN X fibers indicates … increased blood pressure (aortic arch baroreceptors)
91 where on the sarcomere are gap junctions found? intercalated disks
92 name the changes an infusion of 3L of blood following an MVA would cause in CO, SV, TPR, and RA pressure increased CO/SV/RA pressure, decreased TPR due to baroreceptor reflex
93 how the kidney deals with inulin freely filtered but not secreted or reabsorbed
94 CL(inulin) = ? GFR
95 how the kidney deals with PAH freely filtered and secreted
96 CL(PAH) = ? ERPF (underestimated by 10%)
97 treatment of an Ig with pepsin yields â (Fab)2 fragment and Fc fragment; can still precipitate its ligand
98 as cross-sectional area increases in the lung, air velocity : decreases
99 in order for an egg to complete meiosis II, what must occur? fertilization
100 abrupt decline in progesterone levels during the first trimester will result in … inability to maintain the endometrium and expulsion of the fetus
101 progesterone secretion is stimulated by ___ during the first trimester hCG
102 treatment with papain of an Ig results in : 2 Fab fragments and an Fc fragment
103 histologically, fibers of the AV node look like : cardiac muscle fibers
104 the slowest conduction in the heart occurs through the : AV node
105 the fastest conduction in the heart occurs through the … Purkinje fibers
106 what is the most important factor in matching R ventricular output to L vent output? length-tension relationship of cardiac mm
107 oxygen consumption by the heart is closely correlated with : CO x aortic pressure (or work)
108 lipoprotein lipase binds to and utilizes : chylomicrons
109 the afferent arm of the baroreceptor reflex responds to … vessel stretch
110 plasma insulin concentration is (high/low) during the third trimester of pregnancy high
111 an infusion of 1 L of what type of solution would produce a large increase in interstitial fluid volume? isotonic saline (no colloid osmotic pressure)
112 increasing HR will not increase CO unless ___ also increases venous return
113 what is capacitation? process that modifies the sperm cell membrane so that the acrosomal reaction can occur (happens in the uterus)
114 the organ with the lowest A-V O2 difference kidneys
115 describe the female hormones just prior to menstruation decreasing sex steroids, increasing LH/FSH, falling body temperature
116 describe the female hormones just prior to ovulation LH/FSH/estrogen falling, progesterone climbing
117 what hormone causes the increase in basal body temperature after ovulation? progesterone
118 during the secretory phase, where does the progesterone come from? corpus luteum
119 hCG acts like ___ during the first trimester of pregnancy LH
120 inulin space is equivalent to : extracellular volume
121 IGF-1 is secreted by ___ in response to ___ hepatocytes, GH in the blood
122 when a supine patient stands, what happens to HR? increases
123 calcium deposition in the mitochondria indicates … the transition from reversible cell injury to irreversible injury and death
124 which anterior pituitary cells stain with eosin? ones that secrete FSH, LH, ACTH, MSH (??)
125 multiple small cytoplasmic structures covering the outside of the glomerular lobes epithelial foot processes
126 at what place in the body does Cl leave the RBC? as the cell passes through the lungs
127 prednisone therapy would cause atrophy of which two portions of the adrenal? fasciculata and reticularis
128 acrosin helps sperm to : break through the zona pellucida of the egg
129 how to differentiate cardiac from skeletal mm cardiac mm for intercalated discs at junctions between cells
130 androstenedione that diffuses to the granulosa is converted to : estradiol
131 a normal FEV1/FVC ratio is seen in what type of lung disease? restrictive
132 mottled, irregular, blue structure in the perimuclear cytoplasm rough ER
133 two primary storage sites for histamine basophils and mast cells
134 on the 22nd of the month, what hormone is much elevated compared to Day 1? progesterone
135 when Ag binds to IgE on the surface of the basophil, what happens? release of histamine and heparin
136 the factor required for coagulation when injuries to the endothelium have occurred Factor VIII
137 the macrophages of the CNS microglia
138 which lung volume cannot be measured by spirometry? RV
139 aldosterone is produced in cell of the … (be specific) zona glomerulosa
140 how long does the body take to produce a sperm? around 2 months
141 what is the function of laminin? mediates attachment of epithelial cells to connective tissue
142 columnar epithelium with abundant cilia is seen in what part of the female GU tract? fallopian tube
143 describe the histology of a branch of the bile duct system small lumen surrounded by cuboidal epithelium w/ thin layer of smooth mm outside the epithelim
144 the difference between plasma and serum serum is plasma without clotting factors & fibrin
145 the first step in the formation of a thrombus platelet adhesion
146 what factor causes pulmonary vasoconstriction? low O2
147 epithelium with a brush border is located in what part of the kidney? proximal convoluted tubule
148 what kind of epithelium is found in the jejunum? nonciliated columnar
149Inulin : space is equivalent to extracellular fluid volume
150 which kidney aa lie between two capillary beds? efferent arterioles
151 PO2 of umbilical aa (>/ 152 hematocrit of mom (>/ 153 CHO contain ___ kCal/g 4
154 fats contain ___ kCal/g 9
155 proteins contain ___ kCal/g 4 and Carbohydrates have: _ 4Kcal/ g
156 peptide that produces vasodilation by the production of NO bradykinin
157 can histamine be inactivated by peptidases? no - its an aa
158 vomiting causes what acid-base disorder? metabolic alkalosis
159 failure to secrete MIF results in … phenotypic male with uterus and uterine tubes
160 describe the tonicity of fluid lost in diarrhea isotonic
161 describe autoregulation constant blood flow even when MAP changes
162 alveolar ventilation depends on three things: tidal volume, dead space, and frequency
163 the role of spectrin on the red cell membrane aids in deformability through caps
164 absence of receptive relaxation indicates a lesion of the … vagal innervation of the stomach
Characteristic Disease
1 characteristics of avoidant personality disorder feelings of inadequacy, extreme sensitivity to criticism, social inhibition and withdrawl
2 characteristics of schizotypal personality disorder eccentricities of behavior, odd beliefs or magical thinking, relationship difficulties
3 gathers information about sick people in order to characterize a new illness; does not have a control group case series study
4 classifies participants by disease (+) or (-), then looks retrospectively to assess risk factors case-control study
5 follows cases and controls with defined risk factors forward in time to determine if they come down with a disease cohort study
6 type of study that identifies disease prevalence in a population cross-sectional study
7 intervention study in which all study participants receive the intervention; the groups \\\\\\\\\\\\\\\"switch\\\\\\\\\\\\\\\" at some point in time cross-over study
8 prevalence affects which of the following: PPV, NPV, sensitivity, specificity NPV and PPV
9 frequency of an X-linked recessive allele in males is equal to the frequency of the allele in the population
10 in an autosomally-transmitted disease: frequency of males with trait (>/ 11 50% of patients with panic disorder also have what cardiac disorder? MVP
12 if a child screams and cries during a \\\\\\\\\\\\\\\"time out\\\\\\\\\\\\\\\" session, what should the parent do? add another few minutes to the timer (only when unacceptable behavior ENDS does time out end)
13 differentiation between schizophrenia (paranoid type) and paranoid personality disorder no hallucinations in personality disorders
14 define schizoaffective disorder schizophrenia + mood disorder
15 differentiation between schizophrenia (paranoid type) and delusional disorder delusions of delusional disorder are not bizarre; usually no hallucinations with delusional disorder
16 the reward system in the brain is mediated by what neurotransmitter? dopamine
17 Pd characterized by short psychosis, unstable interpersonal relationships, seeing things in \\\\\\\\\\\\\\\"black and white\\\\\\\\\\\\\\\", and self mutilation borderline PD
18 Dad gets mad at Mom. Mom gets mad at dog. This is an example of : displacement
19 syndrome of muscle rigidity, hyperpyrexia, CNS alterations, and heart alterations neuroleptic malignant syndrome (caused by antipsychotics and amoxipine)
20 patients who present for assisted suicide usually have ¦ (2) poorly-controlled pain, or depression
21 define Jamais vu patient fails to recognize people or situation that have been previously encountered
22 most common type of bias in cohort studies selection (aka sampling) bias
23 can HIV tests be run without the patient\\\\\\\\\\\\\\\'s knowledge? YES - if another person is at risk, such as in a needlestick incident
24 name the type of skew: mean
25 how are mean, median, and mode distributed in a positive skew? mean>median>mode
26 attention-seeking behavior, dramatism, inappropriate sexual advances histrionic
27 when both mortality and incidence decrease, improvements have been made in which type of preventive medicine? primary prevention
28 define sublimation the diversion of unacceptable actions into acceptable actions
29 highest PPV for sickle-cell disease would be found in: blacks, whites, asians blacks - remember that as prevalence increase, so does PPV
30 __% of a normally-distributed population will fall within 2 SD of the mean 95% (2.5% at each tail)
31 describe delirium acute change in mental status, can be accompanied by psychosis, waxing/waning consciousness, agitation, irritability
32 differentiate delirium from dementia dementia is insidious and primarily affects memory
33 Erikson\\\\\\\\\\\\\\\'s \\\\\\\\\\\\\\\"autonomy vs. shame and doubt\\\\\\\\\\\\\\\" occurs between what ages? 1-3 years
34 characterized by one sole fixed and unshakable delusion delusional disorder
35 a patient with vague or poorly localized complaints might have what disorder? malingering
36 formula for odds ratio ad/bc
37 when does one use the odds ratio? retrospective case-control study
38 when does one use the relative risk? cohort study (prospective study looking at incidence)
39 define social learning learning to behave based on a model
40 What two things MUST happen to make the Dx of PTSD and ASD? reexperiencing the event and dissociative sx
41 the four areas in which patients of 15-17 years can make their own decisions without parental consent or involvement STD treatment, birth control, prenatal care, and substance abuse treatment
42 changes seen in sleep in the elderly decreased total sleep, more awakenings and arousal at night
43 type of reinforcement which entails removal of an aversive stimulus negative reinforcement
44 withdrawl from interaction with others, obsessivity with sameness, and failure to communicate via speech autism
45 difference between autism and Asperger\\\\\\\\\\\\\\\'s no language delay in Asperger\\\\\\\\\\\\\\\'s
46 what occurs during slow-wave sleep? gross movements, decreases in BP, O2 consumption, HR, and body temp
47 what occurs during REM sleep? loss of muscle tone, dreams, penile erections
48 name some pervasive development disorders autism, asperger\\\\\\\\\\\\\\\'s
49 the equation for a 95% CI about a mean mean +/- 2*SEM
50 the equation for a 99% CI about a mean mean +/- 2.5*SEM
51 older men are (more/less) likely than younger men to attempt suicide, and are successful (more/less) often older men are less likely to attempt suicide, but are more often successful
52 put these three activities in order by developmental acquisition: climbing stairs, standing on tip toes, picking up a large ball from the floor stairs (18 mo) > ball (24 mo) > toes (30 mo)
53 IQ test is meant to have a mean of ___ and a SD of __ 100 and 15
54 type of statistical analysis used in a case-control study odds ratio
55 average time a doctor spends per patient 11-15 minutes
56 type of study that gives a measure of incidence cohort study
57 define deviance sum of the squared differences from a mean value
58 test to use when comparing the proportions of patients who have died in a clinical trial chi square
59 cyclothymic disorder is similar (but less severe) that what other major disorder? bipolar I
60 what racial group is more likely to complete suicide? native american male
61 a response is most resistant to extinction if it is learned under which reinforcement schedule? variable ratio
62 children begin to play together at age … 4 yrs
63 patients with panic disorder often have what cardiac abnormality? MVP
64 largest source of financing for health care in the US government programs
65 average life expectancy is highest for what gender and race? white females
66 stranger anxiety is common between what ages? 7-9 months
67 separation anxiety is common between what ages? 10-18 months
68 natural aging includes loss of hearing in the (low/high) frequency range high (base of cochlea)
69 does the hearing loss of old age apply to both bone and air conduction? yes
70 what should be a parent\\\\\\\\\\\\\\\'s response to a temper tantrum? ignore it
Sphincter of Oddi : Interior of the descending portion of the duodenum, showing bile papilla
The Sphincter of Oddi, also called the hepatopancreatic sphincter or Glisson\\\\\\\\\\\\\\\'s sphincter, controls secretions from the liver, pancreas, and gallbladder into the duodenum of the small intestine.
It is a sphincter muscle located at the surface of the duodenum. It appears slightly distal to the joining of the common bile duct and pancreatic duct as they enter the descending duodenum and forms from the ampulla of Vater. Bile and pancreatic secretions enter the digestive system through this point. The opening on the inside of the descending duodenum after the sphincter of Oddi is called the major duodenal papilla.
Clinical significance
Endoscopic retrograde cholangiopancreatograms (ERCPs), which are radiographic examinations of the biliary system, often involve assessment of the bile ducts with a esophagogastroduodenoscopy via the sphincter of Oddi before the injection of iodinated contrast medium.
45y/o man has a 6 month hx of burning pain that begins in the epigastic area and ascends into the chest. Episodes occur most frequently after large meal and at night. Endoscopic examination shows moderately severe inflammation in the distal 3 cm of the espoghaus.. which of the following is the most likely cause of this condion..
a. diffuse spasm of the esophgeal musculature b. failure of lower espogheal sphincter to relax after a swallow c. H pyloric infec
d. hypersecretion of gastric acid
e. inapporiate relaxation of LES( this is the correct answer). The Answer is : E
Q#2- as the result of a fall onto a hard surface, 20 y/o woman sustains a fracture of the medial epicondyle, and a nerve is injured. which action will be most affected by this nerve injury
a adduction of all digitis
b. extension of all digits
c. flexion of all digits
d. pronation of the forearm
e. supination of the forearm
ok so medial epicondyle fracture --- ulnar nerve..
supracondlayar fracture is --- median nerve..
The correct answer is : a
1) Duchenne muscular dystrophy. Children with Duchenne\\\\\\\\\\\\\\\'s have proximal, limb girdle weakness, making it difficult to stand from a prone position. While a normal child will bend at the knees and squat to a stand, children with Duchenne\\\\\\\\\\\\\\\'s bend at the hips, and walk themselves up to a standing position (Gower maneuver).
2) Neuroblastoma. The two most common abdominal masses in children are Wilms tumor and neuroblastoma. Wilms tumor may be a part of the WAGR syndrome (Wilms, Aniridia, Genitourinary malformations, mental Retardation) and neuroblastoma may regress spontaneously.
3) Muscle Glycogen Phosphorylae. Deficiency in this enzyme causes McArdle\\\\\\\\\\\\\\\'s disease, glycogen storage disease (GSD) type V. The remaining enzyme deficiencies result in other GSD\\\\\\\\\\\\\\\'s. These are high yield on the USMLE.
4) C6-8 deficiency. Complement factors 6-8 provide defense against Neisseria meningitidis. Recurrent meningococcemia results from their deficiency. Look for diffuse petechiae and progression to shock. Waterhouse-Friderichsen syndrome (bilateral adrenal infarction) is a late and ominous complication. Be familiar with the other commonly tested autoimmune disorders listed.
5) Turner\\\\\\\\\\\\\\\'s Syndrome. Monosomy X (45, XO) results in a female phenotype with a litany of defects, including: shield chest, webbed neck, primary amenorrhea/sterility and coarctation of the aorta (as described here). Notching of the ribs on CXR results from increased flow through the costal vasculature. Klinefelter\\\\\\\\\\\\\\\'s syndrome (47, XXY) results in a male phenotype with tall stature, infertility and female secondary sex characteristics.
6) Pericardiocentesis. This is a life-saving maneuver when cardiac tamponade (blood in the pericardial sac) is diagnosed. Beck\\\\\\\\\\\\\\\'s triad (hypotension, JVD and muffled heart sounds) is a key to the diagnosis, which should be considered in all trauma settings. Pulsus paradoxus is a fall in blood pressure (of at least 10mmHg) with inspiration. During inspiration, the capacitance of the pulmonary vasculature is increased, and left heart filling is therefore decreased, resulting in decreased cardiac output and blood pressure.
7) Buerger\\\\\\\\\\\\\\\'s disease. Also known as thromboangiitis obliterans, this is commonly seen in male smokers with Rayndaud\\\\\\\\\\\\\\\'s disease, claudication and gangrene of the fingers and toes. While such vasculopathy may occur in any smoker, an early progression to these severe signs and symptoms in a younger patient should reveal the diagnosis. Smoking cessation is ALWAYS the right answer on the USMLE (and in life!)
8) Spirochete. The causative organism for a PAINLESS ulcer on the genitalia (chancre) is Treponema palidum, the microbe responsible for syphilis. Darkfield microscopy will reveal the organism, and penicillin G is curative. This should be implemented prior to the development of secondary, tertiary and neurosyphilis (tabes dorsalis). PAINFUL genital ulcers (chancroid) result from the gram negative bacillus, Haemophilus ducreyi.
9) Cobblestone appearance with skip lesions. The differences between ulcerative colitis (see answer choice 2) and Crohn\\\\\\\\\\\\\\\'s disease are high yield. Additional findings specific to Crohn\\\\\\\\\\\\\\\'s disease are perianal fistulas an creeping mesenteric fat onto the bowel serosa.
10) Gastrinoma. This patient is demonstrating classical findings of Zollinger-Ellison syndrome (ZES). Patients with ZES have the primary development of a gastrin-secreting tumor, which activates gastric parietal cells to produce hydrochloric acid. Excessive acid production results in diffuse peptic ulcer disease throughout the gastrointestinal tract. Treatment includes continuous pantoprazole (Protonix) infusion and resection of the tumor.
1. The treatment of severe sepsis syndrome should be based on efficient resuscitation, effective antimicrobial therapy, elimination of secondary infections, euglycemia, early targeted and specific drug therapy, and establishment of therapeutic goals.
2. Acute pulmonary embolism (PE) is a difficult diagnosis to establish despite newer advances in imaging; approximately 50% of cases are diagnosed post mortem.
3. In the approach to suspected PE, keep in mind the prudent use of key diagnostic tests: (1) rapid d-dimer by ELISA is an effective screening test; (2) chest CT can help detect most PEs; and (3) a negative Doppler venous ultrasound of the legs does not exclude the diagnosis of PE.
4. The most common etiologic agent implicated in acute bacterial meningitis in the U.S. is Streptococcus pneumoniae.
5. In the newly diagnosed HIV patient, in addition to routine adult immunizations, immunizations against pneumococcal pneumonia, influenza, and both hepatitis A and B are indicated.
6. Metabolic syndrome is diagnosed on the basis of abdominal obesity, hypertriglyceridemia, low HDL cholesterol levels, hypertension, and fasting hyperglyceima.
7. Pituitary tumors cause problems for patients by two main mechanisms: mass effect, which applies pressure to surronding structures, and endocrine hyperfunction, which results in excessive secretion of a particular anterior pituitary hormone.
8. A key concept in evaluating patients with hyperfunctioning endocrine tumors is that biochemical diagnosis should always precede anatomic localization.
9. The best initial screening test for evaluation of thyroid status is the TSH, since it is the most sensitive measure of thyroid function in the majority of patients. The one exception is patients with pituitary/hypothalamic dysfunction, in whom TSH cannot reliably to assess thyroid function.
10. The most common presentation of hypogonadism is erectile dysfunction and decreased libido in men and amenorrhea and infertility in women.
11. All patients with coronary artery disease (CAD), CAD-equivalent diseases, or diabetes should be treated aggressively to reach the LDL-cholesterol target of 100 mg/dL.
12. Diabetics and patients with vascular disease should be treated with a statin lipid-lowering drug to prevent heart disease and stroke, regardless of the blood low-density lipoprotein (LDL) cholesterol level, age (from 40 to 79 years), or gender.
13. The goal blood pressure is < 130/80 mmHg in hypertensive subjects with diabetes mellitus and/or chronic kidney disease.>
14. The single most life-saving treatment strategy in patients with acute ST-elevation myocardial infarction is to rapidly achieve complete reperfusion of the infarct-related artery by mechanical (balloon angioplasty or stenting) or pharmacologic means (thrombolysis).
15. Angiotensin-converting enzyme inhibitors (or angiotensin receptor blockers) and beta-adrenergic blockers are effective in reducing cardiovascular complications and improving survival in patients with systolic heart failure and are recommended in all patients with no contraindications to these drugs.
16. Noninvasive stress testing has the best predictive value for detecting CAD in patients with an intermediate (30-80% ;) pretest likelihood of CAD and is of limited value in patients with very low (< 30% ;) or very high ( 80% ;) likelihood of CAD.
17. In patients with Coccidioides immitis infections, higher titers of complement-fixing antibodies suggest more extensive disease, and rising titers suggest worsening disease.
18. Patients who present with flaccid paralysis during the summer months should be evaluated for West Nile virus infection.
19. A febrile patient with rash who presents to the emergency department during May to September in the South Atlantic and West South Central states should receive empirical doxycycline therapy for suspected Rocky Mountain spotted fever.
20. Community-acquired methicillin-resistant Staphylococcus aureus that is susceptible to clindamycin but resistant to erythromycin should not be treated with clindamycin because of the possibility for induction of resistance.
21. In patients with disseminated candidiasis, IV catheters should be removed and ophthalmologic examinations performed to evaluate for the presence of retinal disease.
22. Transmission of Borrelia burgdorferi (the causative agent of Lyme disease) from an infected Ixodes tick to a susceptible human requires the tick to have fed on the human for at least 40 hours.
23. Porcelain gallbladder is an incidental finding, more common in women who have gallstones. Because up to 50% of patients develop gallbladder carcinoma, prophylactic cholecystectomy is recommended.
24. Three liters of Coca-Cola administered via nasogastric lavage over a 12-hour period can dissolve gastric bezoars. It is thought that the cola acidifies the gastric contents and liberates carbon dioxide in the stomach, resulting in the disintegration of phytobezoars.
25. Regardless of what is done, GI bleeding stops spontaneously in about 80% of patients.
26. Patients with hereditary nonpolyposis colorectal cancer syndrome have a higher-than-average risk of developing colon and gastric cancer.
27. About 90% of patients with primary sclerosing cholangitis have underlying ulcerative colitis, but less than 10% of all patients with ulcerative colitis have primary sclerosing cholangitis.
28. In patients with suspected perforation, the minimum amount of free air that can be detected on an upright chest x-ray is 12 mL.
29. The three major openings in the diaphragm through which hernias may occur are the esophageal hiatus (most common), foramen of Bochdalex (3-5%, usually left-sided), and foramen of Morgagni (rare).
30. In a patient who has a malignancy involving the right hilum, look at the hand veins. If the veins in the hands are distended and do not collapse when the arms are lifted over the head, there is a high chance of superior vena cava obstruction.
31. In high-risk patients, the chance of developing breast cancer can be reduced by about 50% with the use of tamoxifen.
32. If a patient with lung cancer presents with hoarseness, look for vocal cord paralysis, a sign of mediastinal involvement (recurrent laryngeal nerve) that renders the patient inoperable.
33. Patients with head and neck cancer have a 30% chance of developing another cancer somewhere in the aerodigestive tract (head and neck, lung, or esophagus), especially if they continue to smoke and drink.
34. If a patient presents with hypercalcemia, look for a squamous cell cancer (lung, esophagus, head and neck, cervix, anus).
35. Up to 15% of breast cancers may not be detectable by mammogram. If the patient has a clinically suspicious lump, perform a biopsy.
36. The presence of bilateral small kidneys in a patient with azotemia confirms chronic renal failure.
37. In a diabetic patient with proteinuria, the presence of concomitant retinal disease suggests strongly (90% correlation) that the renal manifestations are due to diabetes.
38. Treatment of anemia of chronic renal failure by recombinant human erythropoietin is highly effective, but correction of iron deficiency and iron supplementation by oral or intravenous route is simpler, cheaper, and often by itself effective therapy.
39. In resistant hypertension, especially in younger (< 20 yr) or older (> 70 yr) patients, consider and rule out renovascular hypertension.
40. New onset of nephrotic proteinuria in an elderly patient warrants exclusion of an underlying malignancy.
41. The principal mechanism of bicarbonate reabsorption in the proximal tubule is through Na+-H+ exchanger (NHE3) activity.
42. D-lactic acidosis is characterized by increased serum anion gap, metabolic acidosis, and episodic encephalopathy in patients with short bowel syndrome.
43. Ethylne glycol (antifreeze) toxicity is characterized by high anion gap metabolic acidosis, neurotoxicity in the form of ataxia, seizures, and calcium oxalate crystals in the urine.
44. Bartter\\\\\\\\\\\\\\\'s syndrome is a disorder associated with normotensive hyperaldosteronism, secondary to juxtaglomerular hyperplasia, hypokalemic metabolic alkalosis, and severe renal potassium wasting.
45. Hyperkalemia is an important side effect of both ACE inhibitors and ARBs, but the problem is less frequent and smaller in magnitute with ARBs because of their less pronounced effects on aldosterone levels.
46. Hypochromic microcytic anemias are the most frequently encountered anemias in hospitalized and ambulatory patients.
47. Both iron-deficiency anemia and anemia of chronic disease have a low transferrin saturation. In iron-deficiency anemia, the TIBC is often increased, whereas anemia of chronic disease is marked by an unusually low TIBC.
48. The main clinical manifestations of sickle hemoglobinopathies are hemolytic anemia, chronic end-organ damage, periodic vaso-occlusive disease (\\\\\\\\\\\\\\\"crises\\\\\\\\\\\\\\\"), and hyposplenism.
49. The triad of thrombocytopenia, fragmentation hemolysis, and fluctuating neurologic signs suggests thrombotic thrombocytopenic purpura (TTP), perhaps the most spectacular of the fragmentation syndromes.
50. The cytogenetic marker of chronic myelogenous leukemia is the 9:22 translocation, in which portions of the long arms of chromosomes 9 and 22 are exchanged, resulting in a shortened 22 or Philadelphia chromosome (Ph1). Some patients with acute lymphoblastic leukemia (ALL) also have 9:22 translocations - a poor prognostic marker in ALL.
51. The classic cell seen in the lymph nodes of patients with Hodgkin\\\\\\\\\\\\\\\'s disease is the Reed-Sternberg (RS) cell, a large cell with two nuclei, each possessing a distinct nucleolus.
52. Secondary monoclonal gammopathy must be distinguished from the monoclonal gammopathy associated with multiple myeloma, benign monoclonal gammopathy of uncertain significance, solitary plasmacytoma, amyloidosis, lymphoma, and Waldenström\\\\\\\\\\\\\\\'s macroglobulinemia.
53. Deep venous thrombosis in a young person, a family history of thrombosis, thrombosis at unusual sites (such as the mesenteric vein), or recurrent thrombosis without precipitating factors suggests a hypercoagulable state.
54. Any condition that leads to V/Q mismatching can cause hypoxemia. Most pulmonary disorders are associated with some degree of V/Q mismatching. This is the most common cause of hypoxemia and is responsive to oxygen therapy.
55. Assuming that you are at sea level and breathing room air, an easy way to calculate the A-a difference is as follows: (150-40/0.8) - PaO2 measured by ABG.
56. Although the anterior segment of the upper lobes may be affected by TB, a lesion found only in the anterior segment suggests a diagnosis other than TB (e.g., malignancy).
57. Incidence of lung cancer now exceeds breast cancer in women. Women develop lung cancer at an earlier age and after fewer years of smoking.
58. Pleural fluid glucose < 30 mg/dL and pH < 7.30 suggest rheumatoid effusion, TB, lupus, or malignancy.>
59. Mesothelioma, a pleural malignancy associated with asbestosis exposure, is not associated with tobacco use.
60. Early, aggressive intervention with disease-modifying antirheumatic drugs reduces the morbidity (deformity leading to reduced functionality and disability) and mortality associated with rheumatoid arthritis.
61. Antinuclear antibody (ANA) titers are not associated with activity of disease.
62. COX2 NSAIDs are no more efficacious than older standard NSAIDs but are significantly less toxic.
63. A patient with low positive rheumatoid factor (RF) and arthralgia should be checked for hepatitis C, which can produce a low-grade synovitis and cryoglobulins (which in turn can produce a falsely positive RF).
64. Always check for Sjögren\\\\\\\\\\\\\\\'s antibodies (SSA/SSB) and phospholipid antibodies in a young woman with lupus before conception. Sjögren\\\\\\\\\\\\\\\'s antibodies increase the risk of neonatal lupus (rash, thrombocytopenia, heart block), and phospholipid antibodies can significantly increase the risk for miscarriage, premature labor, or intrauterine growth delay.
65. Packed red cells in freshly acquired blood may include lymphocytes that can mount a graft-versus-host reaction if the patient\\\\\\\\\\\\\\\'s own immune system is unable to rapidly kill and inactivate these transfused allogeneic leukocytes.
66. Intranasal steroids are the single most effective drug for treatment of allergic rhinitis. Decongestion with topical adrenergic agents may be needed initially to allow corticosteroids access to the deeper nasal mucosa.
67. The clinical manifestations of anaphylaxis include flushing, sense of foreboding, urticaria or angioedema, pruritus, hoarseness, stridor, bronchospasm, hypotension, tachycardia, nausea, vomiting, abdominal pain, diarrhea, headache, and syncope.
68. ACE inhibitors are often-forgotten causes of angioedema and chronic cough.
69. Chronic urticaria may require treatment with a combination of both H1 and H2 antihistamines, reflecting the distribution of these receptors in the skin. Work-up for an allergic etiology is rarely informative.
70. Beta blockers should be avoided whenever possible in patients with asthma because they may accentuate the severity of anaphylaxis, prolong its cardiovascular and pulmonary manifestations, and greatly decrease the effectiveness of epinephrine and albuterol in reversing the life-threatening manifestations of anaphylaxis.
71. HIV infection is preventable and treatable but never curable.
72. If you are thinking of mononucleosis as a diagnosis, think about and test for HIV.
73. Adherence to anti-HIV therapy must be 95% for a durable response. HIV treatment guidelines change frequently - always verify your information.
74. A person under care for HIV should not develop pneumocyotic carinii pneumonia (PCP). It is entirely preventable.
75. There is a critical interaction between HIV and tuberculosis. When one infection is present, you must look for the other.
76. If you have diagnosed one sexually transmitted disease (STD), you must consider others, especially HIV.
77. Most back pain is not caused by a radiculopathy.
78. The most common cause of dizziness is benign paroxysmal positional vertigo.
79. The leading causes of death after a stroke are medical complications, not the stroke itself.
80. Heparin has no value in the acute treatment of strokes.
81. The sudden onset of a severe headache may indicate an intracranial hemorrhage.
82. Coma is usually caused by medical problems, not neurologic ones.
83. Elective surgery should be postponed for further evaluation if the patient has signs or symptoms of unstable or inadequately treated chronic disease.
84. Patients who have undergone coronary revascularization within 5 years of a proposed elective surgery and have no signs or symptoms of recurrent ischemia can usually undergo surgery without further evaluation.
85. Acute dyspnea in a patient who has had major surgery should raise the suspicion of pulmonary embolism, even if the patient has received prophylaxis.
86. All patients who take oral agents for diabetes may continue them until the day of surgery unless they have chronic liver or renal disease or are on a first-generation sulfonylurea. In these cases the oral agent should be held at least several days in advance of the surgery.
87. Pacemakers and implanted cardioverters/defibrillators should be assessed both before and after surgery, radiation therapy, or lithotripsy.
88. Surgery patients on any antiplatelet agent should be told when to stop the medication before surgery and when to resume it afterward to minimize perioperative bleeding.
89. Strict bed rest is not needed for the treatment of acute lumbosacral strain.
90. Influenza virus vaccination reduces hospitalization and death from influenza and its complications in elderly and high-risk patients.
91. Always examine the feet and pedal pulses of diabetic patients regularly, looking for ulcerations, injury, or reduced blood flow.
92. Closely monitor patients with blood pressure measurements defined as \\\\\\\\\\\\\\\"prehypertension,\\\\\\\\\\\\\\\" and encourage lifestyle changes to prevent progression to hypertension.
93. Reduce the risk of hip fracture in elderly and high-risk patients with calcium and vitamin D supplements, exercise prescription, hip pads, and medications to treat osteoporosis, when indicated.
94. Assess a woman\\\\\\\\\\\\\\\'s risk of coronary disease, stroke, thromboembolism, and breast cancer before prescribing estrogen/progesterone therapy in menopause.
95. Older adults currently constitute the fastest-growing population in the United States - a trend that is expected to continue for the foreseeable future.
96. Commonly used instruments for a comprehensive geriatric assessment include the Mini Mental State Exam, the Geriatric Depression Scale, activities of daily living, instrumental activities of daily living, and assessment of stability and mobililty (e.g., Tinnetti or \\\\\\\\\\\\\\\"Get Up and Go\\\\\\\\\\\\\\\" test).
97. Dementia and short-term memory loss are not caused by aging.
98. Delirium carries tremendous mortality and morbidity rates and should be identified, worked up aggressively, and treated as any medical emergency.
99. Diastolic dysfunction, as distinct from systolic dysfunction, results from impaired relaxation in heart failure with preserved ejection fraction and may account for half of all cases of heart failure in people over 80. Although the symptoms of diastolic and systolic dysfunction may be similar, the traditional therapy for systolic dysfunction can actually worsen ventricular filling and increase the risk of orthostasis and syncope in cases of diastolic dysfunction.
100. Fifteen percent of elderly patients who fall and fracture a hip report prior falls. It is essential to ask about falls, assess for fall risk, and then act accordingly, given the significant mortality and morbidity of hip fractures.
At what concentration is the transport mechanism for glucose saturated?
300 mg/dL
Define effective renal plasma flow.
ERPF = U (PAH) x V/P (PAH) = C (PAH)
Define filtration fraction.
FF = GFR/ RPF
Define free water clearance.
C(H2O) = V- C(osm)
Define GFR.
GFR = U(inulin) x V/P (inulin) = C (inulin) GFR also equals the difference in (osmotic pressure of the glomerular capillary minus Bowman\\\\\\\\\\\\\\\'s space) and (hydrostatic pressure of the glomerular capsule minus Bowman\\\\\\\\\\\\\\\'s space).
Define renal blood flow.
RBF = RPF/1 - Hct
Define renal clearance.
Cx = UxV/Px The volume of plasma from which the substance is cleared completely per unit time.
Define urine flow rate.
V = urine flow rate C (osm) = U(osm)V/P(osm)
How are amino acids cleared in the kidney?
Reabsorption occurs by at least 3 distinct carrier systems, with competitive inhibition within each group.
How do NSAIDs cause renal failure?
By inhibiting the production of prostaglandins which normally keep the afferent arterioles vasodilated to maintain GFR
How high can the osmolarity of the medulla reach?
1200-1400 mOsm
How is ICF measured?
ICF = TBW - ECF
How is interstitial volume measured?
Interstitial volume = ECF - PV
How is PAH secreted?
Via secondary active transport
How is PAH transport mediated?
Mediated by a carrier system for organic acids
How much of the ECF is interstitial fluid?
Three-fourths
How much of the ECF is plasma?
One-fourth
How much of the total body water is part of intracellular fluid?
Two-thirds
How much of the total body water is part of the extracellular fluid?
One-third
If clearance of substance X is equal to GFR, what occurs?
There is no net secretion or reabsorption
If clearance of substance X is greater than GFR, what occurs?
Net tubular secretion of X
If clearance of substance X is less than GFR, what occurs?
Net tubular reabsorption of X
T/F. Secondary active transport of amino acids is saturable.
TRUE
What 3 layers form the glomerular filtration barrier?
1. Fenestrated capillary endothelium 2. Fused basement membrane with heparan sulfate 3. Epithelial layer consisting of podocyte foot processes
What actions does ADH have on the kidney?
-Increase water permeability of principle cells in collecting ducts -Increase urea absorption in CD -Increase Na/K/2Cl transporter in the thick ascending limb
What actions does AII have on the kidney?
-Contraction of efferent arteriole increasing GFR -Increased Na and HCO3 reabsorption in proximal tubule
What actions does aldo have on the kidneys?
-Increased Na reabsorption in distal tubule -Increased K secretion in DT -Increased H ion secretion in DT
What actions does ANP have on the kidney?
-Decreased Na reabsorption -Increased GFR
What actions does PTH have on the kideny?
-Increased Ca reabsorption -Decreased phosphate reabsorption -Increase 1,25-(OH)2 Vit D production
What activates 1 alpha-hydroxylase?
PTH
What are the 4 actions of angiotensin II?
1. Vasoconstriction 2. Release of aldo from adrenal cortex 3. Release of ADH from posterior pituitary 4. Stimulates hypothalamus to increase thirst
What are the 4 endocrine functions of the kidney?
1. EPO release 2. Vitamin D conversion 3. Renin release 4. Prostaglandins release
What are the consequences of a loss in the charge barrier?
-Albuminuria -Hypoproteinemia -Generalized edema -Hyperlipidemia
What competitively inhibits the carrier system for PAH?
Probenecid
What constricts the efferent arteriole?
Angiotensin II
What dilates the renal afferent arteriole?
Prostaglandins
What do the collecting ducts reabsorb in exchange for K or H?
Na ions
What does renin do?
Cleave angiotensinogen into angiotensin I
What does the anterior pituitary secrete?
-FSH and LH -ACTH -GH -TSH -MSH -Prolactin
What does the beta subunit do?
The beta subunit determines hormone specificity
What does the early distal convoluted tubule actively reabsorb?
-Na ions -Cl ions
What does the posterior pituitary secrete?
ADH and oxytocin
What does the secretion of prostaglandins from the kidney do?
Vasodilates the afferent arterioles to increase GFR
What does the thick ascending loop of Henle actively reabsorb?
-Na ions -K ions -Cl ions
What does the thick descending loop of Henle indirectly reabsorb?
-Mg ion -Ca ions
What effect does constriction of the efferent arteriole have?
-Decreased RPF -Increased GFR -FF increases
What effect does dilation of the afferent arteriole have?
-Increased RPF -Increased GFR - FF remains constant
What enzyme converts 25-OH Vit D to 1,25-(OH)2 Vit D?
1alpha-hydroxylase
What happens to glucose in the kidneys when glucose is at a normal level?
Glucose is completely reabsorbed in the proximal tubule.
What hormones act on the kidney?
1. ADH 2. Aldosterone 3. Angiotensin II 4. Atrial natriurtic Peptide 5. PTH
What inhibits constriction of the efferent arteriole by AII?
ACE inhibitors
What inhibits dilation of the afferent arteriole by prostaglandins?
NSAIDS
What is an important clinical clue to diabetes?
Glucosuria
What is angiotensin II\\\\\\\\\\\\\\\'s overall function?
To increase intravascular volume and increase blood pressure
What is passively reabsorbed in the thin descending loop of Henle?
Water via medullary hypertonicity (impermeable to sodium)
What is reabsorbed in the early distal tubule under the control of PTH?
Ca ions
What is the function of the early proximal convoluted tubule?
Reabsorbs all of the glucose and amino acids and most of the bicarbonate, sodium, and water
What is the oncotic pressure of Bowman\\\\\\\\\\\\\\\'s space?
Zero
What is the thick ascending loop of Henle impermeable to?
Water
What is the threshold for glucose reabsorption in the proximal tubule?
200 mg/dL
What may act as a \\\\\\\\\\\\\\\'check\\\\\\\\\\\\\\\' on the renin-angiotensin system in heart failure?
ANP
What part of the nephron secretes ammonia?
Early proximal convoluted tubule
What part of the pituitary is derived from neuroectoderm?
Posterior pituitary
What percentage of the body is water?
0.6
What regulates the reabsorption of water in the collecting ducts?
ADH
What secretes renin?
JG cells
What stimulates ADH secretion?
-Increased plasma osmolarity -Greatly decreased blood volume
What stimulates aldosterone secretion?
-Decreased blood volume (via AII) -Increased plasma K concentration
What stimulates angiotensin secretion?
Decreased blood volume (via renin)
What stimulates ANP secretion?
Increased atrial pressure
What stimulates EPO release?
Hypoxia
What stimulates PTH secretion?
Decreased plasma ca concentration
What stimulates renin release?
1. Decreased renal arterial pressure 2. Increased renal nerve discharge (Beta 1 effect)
What subunit do TSH, LH, FSH and hCG have in common?
Alpha subunit
What symptom is present once threshold is reached?
Glucosuria
What type of tissue is the anterior pituitary derived from?
Oral ectoderm
What value is used clinically to represent GFR?
Creatinine clearance
What variables are needed to calculate free water clearance?
-Urine flow rate -Urine osmolarity -Plasma Osmolarity
Where does ACE convert AI to AII?
Primarily the lung capillaries
Where does secondary active transport of amino acids occur?
In the proximal tubule
Where is EPO secreted?
Endothelial cells of the peritubular capillaries (kidney)
Where is paraaminohippuric acid secreted?
Proximal tubule
Which barrier is lost in nephrotic syndrome?
Charge barrier
Which layer filters by negative charge?
Fused basement membrane
Which layer filters by size?
Fenestrated capillary endothelium
Why does the nephron secrete ammonia?
Acts As a buffer for secreted H ions
Why is inulin sued to measure GFR?
Because it is freely filtered and is neither absorbed or secreted
Why is PAH used to calculate RPF?
PAH is secreted and filtered.
A 21-Beta-hydroxylase deficiency will result in what hormone deficiencies/excesses?
Decreased cortisol and mineralocorticoids (hypotension, hyperkalemia) Increased sex hormones (masculinization)
A deficiency of 17-alpha hydroxylase will result in an decrease in what hormone(s)?
Decreased sex hormones and cortisol
A deficiency of 17-alpha hydroxylase will result in an increase in what hormone(s)?
Aldosterone Produces hypertension, hypokalemia
A dopaminergic antagonist would be expected to have what effect prolactin secretion?
Stimulates prolactin secretion
A maturing graafian follicule can be found at what stage of the menstrual cycle?
During the proliferative phase (Around Day 7)
Angiotensin II has what effect on the adrenal cortex?
Stimulates aldosterone production by enhancing the activity of aldosterone synthase
Calcitonin\\\\\\\\\\\\\\\'s actions (synergize/oppose) the actions of PTH.
Oppose. Calcitonin acts faster than PTH to decrease serum Ca2+ levels.
Decreased cortisol levels as in any of the congenital adrenal hyperplasias will have what effect on ACTH?
ACTH levels will be increased contributing to increased skin pigmentation
Decreased phosphate will have what effect on Vit D?
Increased activated Vit D.
During the 2nd and 3rd trimester, one would expect the corpus luteum to be?
Degenerated. Shortly after the first trimester, the placenta makes estriol and progesterone.
Estradiol is converted from what precursor by what enzyme?
Aromatase converts Testosterone to Estradiol.
Estrogen is produced in what 4 locations in the body?
Corpus luteum, placenta, adrenal cortex, and testes
Estrogen levels are low/med/high during the just before the peak of the LH surge?
High. Estrogen switches to positive feedback of LH from negative so both increase.
Estrogens have what effect of LH secretion?
Complex effects. Early on estrogen has a negative effect that switches to positve just before the LH surge.
Estrogens have what effect of the follicle?
Estrogens stimulate growth of the follicle
Failure of brain maturation due to lack of thyroid hormone is known as?
Cretinism
Finasteride inhibits what step in testosterone metabolism?
Converstion of testosterone to DHT by 5-alpha reductase
Follicular growth is fastest during what part of the menstrual cycle?
During the second week od the proliferative phase (Days 7-14)
FSH stimulates what cells in the male?
Sertoli cells (spermatogenesis)
Hypocalcemia will have what effect on Vit D metabolism?
Decreased Ca2+ will increase PTH which will stimulate the kidney to produce more activated Vit D.
In addition to peripheral conversion, DHT is also produced in the?
Prostate
In what organ is Vitamin D3 produced?
The skin. Vit D requires sun exposure (UV light and heat)
Is testosterone considered to be anabolic or catabolic overall?
Anabolic
LH levels would be low/med/high at the time of ovulation (Day 14)
Low. The LH surge has already declined
LH stimulates what cells in the male?
Leydig cells (testosterone synthesis)
Name the two primary insulin independent organs?
Brain and RBC\\\\\\\\\\\\\\\'s take up glucose independent of insulin
Order the following with the most potent first: testosterone, androstenedione. DHT
DHT > testosterone > androstenedione
Order the following with the most potent first: estrone, estradiol, estriol.
Estradiol > estrone > estriol
Phosphate reabsortion in the kidneys is inhibited by what hormone?
PTH
Progesterone has what effect on body temperature?
Increases body temperature
Progestorone is used in combination with estrogen for what reason?
To decrease the risk of endometrial cancer associated with unopposed estrogen therapy
Prolactin has what effect on ovulation?
Prolactin inhibits ovulation by inhibiting the release/synthess of GnRH from the hypothalamus
PTH causes increased calcium reabsorption in what part of the kidney?
DCT
PTH is produced by what cell type?
Chief cells of the parathyroid glands
Sertoli cells stimulate spermatogenesis by producing what 2 factors in response to FSH?
Androgen-binding protein (ABP) - concentrates testosterone in the seminiferous tubules Inhibin - inhibits FSH secretion fro the ant pit
T/F - Glycolisis is promoted by the thyroid hormones
False. Thyroid hormones increase blood glucose levels by stimulating glycolgenolysis and gluconeogenesis.
T/F - PTH stimulates both osteoclasts and osteoblasts?
True
T/F - Testosterone is the most active androgen in males and females?
False. 5-alpha reductase activates testosterone to DHT which is the most active androgen.
Testosterone acts as a negative inhibitor on what hormone from the brain?
GnRH
Testosterone is synthesized in what two locations?
Testis Adrenal Cortex
The hormone with the highest concentration during the secretory phase is?
Progesterone
The key inhibitor of prolactin release is?
Dopamine secreted from the hypothalamus Bromocriptine (Dopamine agonist has the same effect)
The parathyroid glands come from what embryonic structures?
The 3rd and 4th pharyngeal pouches
The primary estrogen produced by the ovary is?
Estradiol
The primary estrogen produced by the placenta is?
Estriol
Thick mucous production is the result of what sex hormone?
Progesterone Decreases sperm entry into the uterus
Throid Stimulating Immunoglobulin results in what disease?
Graves Disease (hyperthroidism)
Thyroid hormones acts synergistically with what hormone with respect to bone growth?
GH
TRH is produced in what region of the brain?
Hypothalamus
TSH levels in a hypothroid patient would be? Free T4?
Elevated TSH Decreased free T4
Unlike estrogen, what effect does progesterone have on the myometrium?
Progesterone decreases myometrial excitability to help maintain the pregnancy/facilitate fertilization
Vit D deficiency in kids cause what disease? Adults?
Rickets in kids Osteomalacia in adults
What 2 conditions other than pregnancy increase hCG?
Hydatidiform moles in women or choriocarcinoma
What adrenergic effects do the thyroid hormones have?
Beta-adrenergic effects
What are the symptoms of menopause?
HAVOC H = Hot flashes A V = Atrophy of the Vagina O = Osteoporosis C = Coronary Artery Disease
What cells produce calcitonin?
Parafollicular cells (C cells) of the thyroid
What does an elevated progesterone level indicate?
Ovulation
What effect do androgens have on growth of long bones.
During puberty, testosterone stimulates bone growth but eventually causes closure of the ephyseal plates
What effect do estrogens have on the endometrium? Myometrium?
Stimulate endometrial proliferation Increase myometrial excitability
What effect do estrogens have on the liver?
Increase hepatic synthesis of transport proteins
What effect do the thyroid hormones have on cardiac output? Heart rate? Contractility? Stroke Volume? Respiratory Rate?
Thyroid hormones increase: CO HR SV contractility and RR
What effect does Ca2+ have on bone?
Stimulates bone resorption of calcium.
What effect does progesterone have on FSH? On LH?
Progesterone is inhibitory to both gonadotrophins
What effect does progesterone have on the endometrium?
Progesterone stimulates the endometrial glands to become secretory and increases spiral artery development
What effect does PTH have on bone?
Increases bone resorption of Ca2+ and phosphate
What effect does thyroid hormone have on lipolysis?
Lipolysis is stimulated
What effect will low serum phosphate have the kidney?
The kidney will produce more 1-25-OH2 Vit D which will increase phosphate release from bone matrix and increase Ca2+ and phosphate absorption in the GIT
What enzyme deficiency will produce BOTH hypertension and masculinization of females?
11-Beta hydroxylase deficiency 11-deoxycorticosterone will act as a mineralocorticoid
What enzyme in the kidney is stimulated that affects vitamin D metabolism?
PTH stimulates 1-alpha-hydroxylase cause increased production of 1,25-(OH)2 vitamin D.
What happens to the corpus lutem if progesterone levels fall without fertilization?
The corpus luteum regresses and menstration occurs
What happens to the corpus lutem if progesterone levels with fertilization?
The corpus luteum is maintained by hCG acting like LH which maintains both estrogen and progesterone levels.
What hormonal changes are seen with untreated menopause with respect to estrogen, FSH, LH, GnRH?
Decreased estrogen Increased FSH (Greatly) Increased LH (No surge) Increased GnRH
What hormone predominates during the secretory phase of the menstrual cycle?
Progesterone
What is the key regulator of PTH secretion?
Decrease in free serum Ca2+ increases PTH secretion. Increased Ca2+ feedback inhibits PTH secretion.
What is the key regulator that increases Calcitonin secretion?
Increased serum Ca2+
What is the most common cause of congenital adrenal hyperplasia?
21-Beta hydroxylase deficiency
What is the physiologic source of hCG?
The syncytiotrophoblasts of the placenta
What is the primary organ that converts Vit D to 25-OH Vit D?
Liver
What is the primary source of androstenedione?
Adrenal glands
What is the role of calcitonin in normal calcium homeostasis?
Probably not important as PTH is the primary regulator of calcium homeostasis.
What is the VERY first molecule in the pathway for the synthesis of Aldosterone? Cortisol? Adrenal androgens?
Cholesterol
What is thought to be the cause of menopause?
Cessation of estrogen production due to decline in the number of follicles
What overall effects does PTH have on body electolytes?
PTH increases serum Ca 2+, decreases serum phosphates, increases urine phosphates
What signal from the body decreases TRH secretion?
Thyroid hormones, T3
What substance is used by the brain for energy during starvation?
Ketone bodies
What will the levels of Ca2+, phosphate, and alkaline phosphatase be in hyperparathyroidism?
Increased Ca2+, decreased phosphate, increased alkaline phosphatase
What will the levels of Ca2+, phosphate, and alkaline phosphatase be in osteoporosis?
No changes in Ca2+, phosphate, or alkaline phosphatase
What will the levels of Ca2+, phosphate, and alkaline phosphatase be in Paget\\\\\\\\\\\\\\\'s disease of bone?
Alkaline phosphatase increased with normal Ca2+ and phosphate
What will the levels of Ca2+, phosphate, and alkaline phosphatase be in renal insufficiency?
Decreased Ca2+, increased phosphate, and alkaline phosphates WNL
What will the levels of Ca2+, phosphate, and alkaline phosphatase be in Vit D intoxication?
Increased Ca2+ and phosphate with alkaline phosphatase WNL
Which ducts (Mullerian or Wolfian) are promoted by androgens?
Wolfian ducts are differentiated into the internal gonadal structures.
Why is hCG so useful for detecting pregnancy?
It is detectable in the blood and urine 8 days after successful fertilization.
Why is hormone replacement therapy used in postmenopausal women?
Decrease hot flashes and decrease bone loss. Decreased risk of heart disease could be on the boards but is no longer true (2001).
Will most steroids in the blood be bound or unbound?
Bound to specific binding globulins Steroids are lipophilic
You would expect the body temperature of a patient with hyperthroidism to be?
Elevated Thyroid hormone increases Na/K ATPase activity => increased consumption of O2 => increased temp
A decrease in PA O2 will have what effect on the pulmonary vasculature?
Causes hypoxic vasoconstriction that shifts blood awayfrom poorly ventilated regions
A value of infinity for V/Q indicates?
Blood flow obstruction
A ZERO value for V/Q indicates?
Airway obstruction
Bicarbonate in the RBC is transported out of the cell in exchange for what ion?
Cl- by a HCO3-/Cl- antiport
Cor pulmonale is the result of?
Pulmonary hypertension
Cor pulmonale will lead to what condition of the heart?
Right ventricular failure (jugular venous distention, edema, hepatomegaly)
Dissociation of CO2 from Hb upon oxygenation in the lungs is known as?
The Haldane effect
Exercise (increased cardiac output) will have what effect on V/Q to the apex?
The V/Q will approach 1 (from 3) as a result of dilation of vessels in the apex.
In the apex of the lung, V/Q should be >1, =1, or <1?
V/Q > 1. NL = 3 which indicates wasted ventilation.
In the base of the lung, V/Q should be >1, =1, or <1?
V/Q < 1. NL = 0.6 which indicates wasted perfusion.
In the perpheral tissue what factor helps unload oxygen by shifting the curve to the right?
Increased H+ (decreased pH) a.k.a. the Bohr effect
Increased 2,3-DPG will cause a shift in what direction of the oxygen-Hb dissociation curve?
The curve will shift RIGHT. This allows Hb to release more oxygen
Increased erythropoietin levels as a response to high altitudes will have what affect on the blood?
Increase hematocrit and Hb
Neonatal respiratory distress syndrome is due to a deficiency of what?
Surfactant (dipalmitoyl phosphatidylcholine, lecithin)
Perfusion is greatest in what part of the lung?
Both ventilation and perfusion are greater at the base than at the apex.
Recurrent TB grows best in what part of the lung? Why?
Apex because of high O2.
Surfactant role in the lungs is to do what?
Decrease alceolar surface tension
T/F - The pulmorary circulation is a high resistance, low compliance system.
F. It has low resistance and high compliance.
The conversion of CO2 to H2CO3 (Carbonic acid) is catalyzed by what RBC enzyme?
Carbonic Anhydrase
The kidneys would do what to compensate for respiratory alkalosis as a response to high altitude?
Excrete bicarbonate
The predominant form of CO2 transport from the tissues to the lungs is?
HCO3- (bicarbonate) accounts for 90%, followed by Hb bound CO2 (5%) and dissolved CO2 (5%)
TV+IRV+ERV = ? TV = tidal volume, IRV = inspirartory reserve volume, ERV = expiratory reserve volume
Vital capacity. VC is everything but the residual volume.
Ventilation is greatest in what part of the lung?
Both ventilation and perfusion are greater at the base than at the apex.
What 6 factors decrease O2 affinity to Hb/decrease P50? What direction does the O2-Hb dissociation curve shift?
Decrease metabolic needs, dcr PCO2, dcr temperature, increased pH, dcr 2,3-DPG, and Fetal Hb The curve shifts LEFT.
What are some potential side effects of ACE inhibitors?
Cough and angioedema due to decreased bradykinin
What cellular change could you expect as a response to high altitude?
Increased mitochondria
What enzyme in the lungs is a key enzyme in the renin-angiotensin system?
Angiotensin-converting enzyme (ACE) which converts Ang I to Ang II
What is expiratory reserve volume?
Air that can still be breathed out after normal expiration
What is FRC? How is it calculated?
FRC is the flume in the lungs after normal respiration and is the sum of RV +ERV.
What is inspiratory reserve volume?
Air in excess of the tidal volume that moves into the lungs with maximum inspiration
What is residual volume?
Air in the lung at maximal expiration
What is the bodies acute reponse to a change from low to high altitude?
Increase in ventilation
What is the difference between capacites and volumes in the lung?
Capacities are the sum of >= 2 volumes.
What is the Total Lung Capacity? Normal Value?
IRV + TV + ERV + RV or VC + RV Normal would be ~ 6.0 L
What is tidal volume? What is a normal TV value?
Air that moves into the lung with each quiet expiration. 500 mL is normal
What would be the effect on the heart due to chronic hypoxic pulmonary vasoconstriction (High altitude)?
Right ventricular hypertrophy
Would you expect acidosis or alkalosis due as a response to high altitude? Metabolic or Respiratory?
Respiratory alakalosis
Exocrine secretion of zymogens by secretory acini is stimulated by what?
-Acetylcholine -CCK
Five effects of Parasympathetic GI Innervation:
1. Increase production of saliva 2. Increase gastric H+ secretion 3. Increases pancreatic enzyme and HCO3- secretion 4. Stimulates evteric nervous system to creat intestinal peristalsis 5. Relaxes sphincters
Five main components of gastric secretions and their sources?
-Mucus (Mucous cell) -Intrinsic factor (Parietal cell) -H+ (Parietal cell) -Pepsinogen (Chief cell) -Gastrin (G cell in antrum and duodenum)
Four categories of drugs that inhibit/decrease secretion of gastric acid:
1. Proton pump inhibitors (omeprazole) 2. H2 receptor antagonists (Rantidine, Cimetidine, Famotidine) 3. Anticholinergics 4. Prostaglandin receptor antagonists (Misoprostol)
Four effects of Sympathetic GI Innervation:
1. Increase production of saliva 2. Decreases splanchnic blood flow in fight-or-flight response 3. Decreases motility 4. Constricts Sphincters
Four functions of H+ secreted in the stomach?
-Kills bacteria -Breaks down food -Lowers pH to optimal range for pepsin function (conversion of pepsinoget) -Sterilizes chyme
Four functions of Samatostatin?
1. Inhibits Gastric acid and pepsinogen secretion 2. Inhibits pancreatic and small intestine fluid secretion 3. Gallbladder contraction 4. Release of both insulin and glucagon
From what cells is bile secreted?
hepatocytes
Function of Gastrin secreted in the stomach?
Stimulates secretion of HCl, IF, and pepsinogen (also stimulates gastric motility)
Function of Intrinsic factor secreted in the stomach?
Binding protein required for vitamin B12 absorption (in terminal ileum)
How do you treat Pancreatic Insufficiency?
-Limit fat intake -Monitor for signs of fat-soluble vitamin (A,D,E,K) deficiency
How does jaundice manifest in the body?
yellow skin and sclerae
How much urobilinogen is secreted per day?
4mg
In what form is bilirubin secreted by the kidney?
urobilirubin
In what form is bilirubin secreted in the feces?
stercobilin
Name as many Pancreatic enzymes as you can:
-alpha-amylase -lipase -phospholipase A -colipase -proteases (trypsin, chymotrypsin, elastase, carboxypeptidases) -trypsinogen (trypsin)
Name the major product of heme metabolism that is actively taken up ty hepatocytes:
Bilirubin
Name the organ and enzyme family involved in the production of bilirubin?
Nonerythroid enzymes in the liver
Name the three salivary secretory glands:
-Parotic -Submandibular -Sublingual
Name two potent stimulators of Gastrin:
1. Phenylalanine 2. Tryptophan
Secretin\\\\\\\\\\\\\\\'s nickname?
Nature\\\\\\\\\\\\\\\'s antacid
SEE PICTURE ON LAST PAGE OF GI PHYSIOLOGY!!!
SEE PICTURE ON LAST PAGE OF GI PHYSIOLOGY!!!
Three main functions of CCK?
1. Stimulates gallbladder contraction 2. Stimulates pancreatic enzyme secretion 3. Inhibits gastric emptying
Two functions of Secretin?
1. Stimulates pancreatic HCO3 secretion 2. Inhibits gastric acid secretion
Two functions of the mucus secreted in the stomach?
-Lubricant -protects surface from H+
What activates all the proteases?
trypsin
What are the products of oligosaccharide hydrolase action?
Monosaccharides (glucose, galactose, fructose)
What are the products of starch hydrolysis by pancreatic amylase?
Oligosaccharides, maltose and maltotriose
What are the products of the hydrolysis of carbohydrate alpha-1,4 linkages by salivary amylase?
maltose, maltotriose and alpha-limit dextrans
What are the three main functions of saliva?
1. Begin starch digestion 2. Neutralize oral bacterial acids which maintains dental health 3. Lubricate food
What are the two main sources of bilirubin in the body?
-Hepatic production by nonerythroid enzymes -Metabolism of heme from red blood cells (120 day life span) and incomplete or immature erythroid cells
What causes pain to worsen in Cholelithiasis?
Eating fatty foods which cause CCK release
What component of GI secretion is \\\\\\\\\\\\\\\'not essetial for digestion?\\\\\\\\\\\\\\\'
Gastric acid
What condition results from elevated bilirubin levels?
Jaundice
What disease is commonly associated with pancreatic insufficiency?
Cystic Fibrosis
What do pancreatic ducts secrete when stimulated by secretin?
-mucus -alkaline fluid
What does inadequate gastric acid cause?
Increased risk of Salmonella infections
What enzyme converts trypsinogen to trypsin?
enterokinase (a duodenal brushborder enzyme)
What enzyme hydrolyzes starch?
Pancreatic amylase
What enzyme is involved in the rate-limiting step in carbohydrate digestion?
Oligosaccaride hydrolases
What enzyme starts digestion and hydrolyzes alpha-1,4 linkages?
Salivary Amylase
What form are the proteases secreted in?
proenzyme form
What form is Alpha-amylase secreted in?
active form
What hormone decreases absorption of substances needed for growth)
Somatostatin
What inhibits the release of gastrin and secretin?
Somatostatin
What is pancreatic amylase in highest concentration?
In the duodenal lumen
What is the composition of bile? (5)
-bile salts -phospholipids -cholesterol -bilirubin -water
What is the fate of pepsinogen?
Broken down to pepsin (a protease) by H+
What is the function (fxn) of Pepsin?
Begins protein digestion (optimal pH = 1.0 - 3.0
What is the function of Alpha-amylase?
starch digestion
What is the function of proteases?
protein digestion
What is the function of VIP?
-pancreatic HCO3- secretion - intibition of gastric H+ secretion
What is the function on Nitrous Oxide?
Causes smooth muscle relaxation
What is the major stimulus for secretion of enzyme-rich fluid by pancreatic acinar cells?
Cholecystokinin
What is the major stimulus for zymogen release, but a poor stimulus for bicarbonate secretion?
Acetylcholine
What is the only types of carbohydrate that is absorbed?
Monosacharides
What is the primary location over bacterial conversion or conjugated bilirubin to urobilinogen?
Colon
What is Zollinger-Ellison syndrome? What is the main manifestation?
1. Hypersecretion of Gastrin 2. Peptic ulcers
What manifestations are seen in pancreatic insufficiency?
-malabsorption -stratorrhea (greasy, malodorous stool)
What regulates bicarbonate secretion?
Stimulated by secretin, potentiated by vagal input and CCK
What regulates CCK secretion?
Stimulated by fatty acids and amino acids
What regulates Gastrin secretion?
-Stimulated by stomach distension, amino acids, peptides, and vagus -Inhibited by secretin and stomach acid pH less than 1.5
What regulates secretion of secretin?
Stimulated by acid and fatty acids in lumen of duodenum
What regulates secretion of Somatostatin?
-Stimulated by acid -Inhibited by vagus
What special characteristic do bile salts possess?
They are amphipathic (contain both hydrophilic and hydrophobic domains)
What special characteristic does the conjugated form of bilirubin possess?
It is water soluble.
What substance stimulates ductal cells to secrete bicarbonate-rich fluid?
Secretin
What three enzymes aid in fat digestion?
1. Lipase 2. Phospholipase A 3. Colipase
What trasport is utilized in glucose absorption across cell membrane?
Sodium-glucose-coupled transporter
What two conditions are caused be autoimmune destruction of parietal cells?
-Chronic Gastritis -Pernicious Anemia
What type(s) of innervation stimulate salivary secretion?
BOTH Sympathetic and Parasympathetic
Where are the oligosaccharide hydrolase enzymes located?
At the brush border of the intestine
Where does bilirubin conjugation take place?
Liver
Where does glucose absorption occur?
Duodenum and proximal Jejunum
Where does heme catabolism take place?
In the Reticuloendothelial System
Where is bicarbonate secreted and what does it do?
-Surface mucosal cells of stomach and duodenum -Neutralizes acid -Present in the unstirred layer preventing autodigestion
Where is Cholecystokinin (CCK) secreted?
I cells of duodenum and jejunum
Where is Secretin secreted?
S cells of duodenum
Where is Somatostatin secreted?
D cells in pancreatic islets and GI mucosa
Where is Vasoactive Intestinal Peptide (VIP) secreted
Smooth muscle nerves of the intestines
Which component of bile makes up the greatest percentage?
Water (97%)
Which component of bile solubilizes lipids in micelles for absorption?
Bile salts
Which component of saliva begins starch digestion?
Alpha-amylase (ptyalin)
Which component of saliva lubricates food?
Mucins (glycoproteins)
Why do we need alkaline pancreatic juice in the duodenum?
To neutralize gastric acid, allowing pancreatic enzymes to function
Menkes disease (depigmented, kinky hair) = copper deficiency.
give mom glucocorticoids for preterm delivery to prevent RDS.
patient with adult polycystic kidney disease...give ACE inhibitors.
complete mole = choriocarcinoma.
Pseudomonas mutates a porin protein that restricts flow of antibiotics into it.
Hepatitis E = prEgnancy.
pAget disease of breast = Adenocarcinoma.
cimetidine = H2 antagonist that is a hepatic enzyme inhibitor.
painless lymphadenopathy, night sweats, pruritis = Hodgkins lymphoma.
scattered large cells with prominent nucleoli = reed sternberg cells.
sign of bile duct obstruction = tea colored urine.
X linked dominant disorder, 60% penetrance. probability his daughter will get disorder? 60%.
ST segment elevation and T wave inversion = ventricular fibrillation.
mid systolic ejection murmur in pulmonic area = ASD.
Ketorolac is indicated for SHORT term management of moderate pain.
Preeclampsia before 20 weeks = hydatiform mole.
Leukoplakia = cancer. Hairy leukoplakia = viral infection.
metoclopramide antagonizes D2( dopamine receptors).
birefringence is attributed to protein\\\\\\\\\\\\\\\'s beta pleated sheet secondary structure.
MS has IFN-gamma secretions that attract macrophages which demyelinate.
Most prevalent cancers in women: breast, then lung, then colon and rectum.
40bpm = complete heart block.
cyclosporine complexes with cyclophilin, inhibits calcineurin, and interacts with CYP450.
metoprolol = beta1 antagonist good for emphysema patients.
ALT and AST elevation = alcoholic hepatitis.
deep furrows in tongue = acromegaly.
helmet cells, schistocytes, and decreased platelets = DIC.
Css = infusion rate/clearance.
carnitine = catalyzes transport of long chain fatty acids into mitochondria.
rifampin = anti-tuberculosis that is CONTRAINDICATED with oral contraception.
Prostaglandins maintain Patency of Patent ductus. Indomethacin causes closure.
\\\\\\\\\\\\\\\"Rat bite fever\\\\\\\\\\\\\\\" caused by Streptobacillus monliformis.
REM rebound occurs as a withdrawal symptom from barbiturates, alcohol, phenothiazines and MAO inhibitors.
Bicornuate uterus is frequently associated with recurrent spontaneous abortions.
Beta blocker that causes elevated total cholesterol = metoprolol.
ALL patient treated with chemo will develop what kind of stones? URIC ACID KIDNEY STONES (b/c of purine breakdown in cells)
the primitive streak gives rise to the NOTOCHORD.
Herpesviridae family are unique to other viruses in that they surround themselves with with nuclear membrane envelope.
Acute appendicitis symptoms in the ELDERLY = DIVERTICULTIS.
Patients with pancreatic calcifications (chronic pancreatitis) are likely to develop DIABETES MELLITUS.
left renal vein drains directly into the inferior vena cava.
Type II hypersensitivity = cytotoxic disease (Rhogam is Type II).
emphysema = enlargement of airspaces.
Fifth disease (erythema infectiosum) = chance of non-immune hydrops in unborn child.
posterior fornix of vagina = rectoUTERINE space.
low carb diet. glucose will come from? glycerol from fat breakdown.
mycosis fungoides = malignant appearing lymphocytes.
metformin has lactic acidosis as a symptom.
meperidine good for cholecystitis b/c doesn\\\\\\\\\\\\\\\'t cause contraction of sphincter of oddi.
HPV mechanism is similar to retinoblastoma.
renal tubular fluid with the lowest osmolarity is found in the macula densa.
\\\\\\\\\\\\\\\"locked in\\\\\\\\\\\\\\\" syndrome = ventral pontine hemorrhage.
extra chromosomes result from NONDISJUNCTION.
microvilli malfunction is due to myosin protein malfunction.
dynein is responsible for movement of cilia and flagella.
cyclobenzaprine is structurally similar to tricyclic antidepressants.
presence of multinucleated giant cells in AIDS patient = HIV encephalitis.
direct fluorescent antibody test allows one to directly visualize organisms.
reovirus is not infectious in the absence of its polymerase enzyme.
risk of hemolytic anemia in a G6PD deficient patient with bacterial prostatitis is highest when treated with TMP-SMX.
hypokalemic periodic paralysis = muscle weakness and paralysis after severe exercise or large meals rich in carbs.
patient in ER with \\\\\\\\\\\\\\\"irregular irregular\\\\\\\\\\\\\\\" heartbeats. what drug do you give after they are stabilized? ANTICOAGULANT.
uterine leiomyomas lead to iron defiiciency.
chronic autoimmune gastritis >>> megaloblastic anemia b/c autoantibodies block B12-IF binding.
OCD treated with TCAs like clomipramine or SSRI\\\\\\\\\\\\\\\'s.
hair follicles and sweat glands contain epithelial stem cells (for skin regeneration).
ammonium chloride increases the clearance of amphetamines from the body.
ipecac is an emetic for orally ingested drugs.
most common primary tumor of heart in KIDS = rhabdomyoma (myxoma in adults).
EBV = heterophile +, CMV( Cytomegalovirus) = heterophile .
EBV( Epstein Bar Virrus) associated with splenic rupture.
p^2 + 2pq + q^2 ...something like that for genetics
pancreatic pseudocysts (seen in alcoholics) may rupture, causing hemorrhage
genes involved in synthesis of immunoglobulins are found on the heavy chain constant region (gamma, alpha, epsilon, etc.) not variable region and not kappa or lambda.
theophylline (used for asthma) may cause tachycardia. It inhibits phosphodiesterase and adenosine receptors.
alopecia areata = autoimmune attack on hair follicles
trichotillomania = traumatic allopecia.
poison that causes respiratory alkalosis and metabolic acidosis = salicylates.
Tx for myasthenia gravis = neostigmine or pyridostigmine, which carbamylate acetylcholinesterase (inhibits it).
primordial eggs can remain stopped in diplotene stage of 1st meiotic division (from birth to ovulation) for up to 40 years.
If septum primum doesn\\\\\\\\\\\\\\\'t fuse with endocardial cushions you get ostium primum ASD.
If you are homozygous, even if your partner isn\\\\\\\\\\\\\\\'t a carrier, your kids will have abnormality. AA + aa = Aa, where A = abnormality.
Calreticulin and calnexin recognize misfolded soluble proteins within the RER by the presence of terminal glucose residues on the protein
Charcot-Marie-Tooth disease associated with deep peroneal nerve damage.
Antacids can adversely affect bioavailability of fluoroquinolones.
Overly rapid correction of hyponatremia = central pontine myelinosis.
with retinal detachment or optic neuritis, pupils will dilate on both sides with shining light.
maternal levels of estriol are dependent on a viable fetus.
thick skin seen in scleroderma patients (muscle replaced with fibrous tissue).
Fetal movement first occurs at 8 weeks.
Warthin Finkleday giant cells are composed of fused lymphocytes and have eosinophilic cytoplasmic and nuclear inclusion bodies. seen in MEASLES.
sickle cell anemia and thalassemia major are similar in that they both cause bone marrow expansion in the calvarium.
spondyloarthropathies can be differentiated by spinal x-ray.
cataracts are in the lens.
Translocation 15:17 = acute promyelocytic leukemia.
histamine, gastrin, and vagal stimulation trigger gastric acid production.
Myasthenia gravis associated with thymoma and bronchogenic carcinoma.
chorda tympani controls salivation from both submandibular and sublingual glands.
Hepadna viruses also possess reverse transcriptase activity.
Paget disease of breast = ductal carcinoma in situ.
to improve eating habits, give megestrol acetate.
Pseudomonas virulence factors: capsule = adherence; elastase = gangrene; endotoxin = LPS( Lypopolisacaride) = shock; pili = binding; pyocyanin = oxygen radicals.
Staph epidermidis makes biofilms on prosthetic devices.
desmoplasia = excessive fibrous tissue formation in the stroma of a tumor.
Churg-Strauss = allergic rhinitis and granulomatosis. RAVE (rhinitis, asthma, vasculitis, eosinophilia).
polyarteritis nodosa = vasculitis of medium sized vessels.
optic atrophy, spasticity, and early death = signs of Krabbe\\\\\\\\\\\\\\\'s disease.
Fructose intolerance = deficiency of aldolase B.
major regulatory enzyme of pentose phosphate pathway = G6P dehydrogenase.
cataracts, hepatosplenomegaly, and mental retardation = galactosemia.
COL1A gene mutation = osteogenesis imperfecta.
rate limiting step of heme synthesis = aminolevulinate synthesis.
distinctive lesion of diabetes = ovoid hyaline masses in the periphery of the glomerulus (Kimmelstiel-Wilson or Nodular glomerulosclerosis).
PAS+, electron dense deposits along epithelial side of capillary basement membrane = membranous glomerulonephritis.
tea colored urine, recent GI infection = Bergers = mesangial IgA deposits.
lead poisoning tx = edetate calcium disodium.
\\\\\\\\\\\\\\\"crew haircut\\\\\\\\\\\\\\\" on xray = sickle cell anemia or thalassemia.
prostatic carcinoma location = posterior lobe; BPH = periurethral.
most common etiologic agent of infective esophagitis = Herpes simplex virus..
cavitary lung lesion = staph aureus. necrotizing lesion = pneumococcus.
cystathione synthase deficiency leads to elevation of methionine and child clinically resembles Marfan patient.
Primary hemochromatosis = HLA A3.
aromatase inhibitor for breast cancer = exemestane.
the cystic artery is located in the hepatoduodenal ligament.
I wish scott was all rich instead of thrombocyte poor, with eczema, pyogenic infections, and NON HODGKINS LYMPHOMA!!!
Fascia attach to bones by blending with the covering periosteum.
numbness, tingling, burning of fingers with \\\\\\\\\\\\\\\"blanching\\\\\\\\\\\\\\\" of fingertips until they are blue followed by reddening = scleroderma (initial complaint in over 70% of patients).
most important neurotransmitter of REM sleep = ACh( Acetylcholine).
Molecule binding that promotes diapedesis of phagocytes into areas of infection = LFA-1 and ICAM-1.
KNOW YOUR TIDAL VOLUMES, ETC.
test for damage to DNA and carcinogenicity in vitro = Ames test.
diagnosis of porphyrias = Watson-Schwartz test.
test for typhoid fever = Widal test.
Woellner enzyme test = test for heterophil antibodies in EBV infections.
Acebutolol and pindolol may exacerbate angina in some patients.
pudendal nerve is anesthetized in obstetric deliveries (S2,3,4).
In complete androgen resistance, the external genitalia are feminized, but no male or female internal tracts develop. In 5 alpha reductase deficiency, the XY person is phenotypically female externally, but male internally (since testosterone controls growth of internal structures).
Tree barking or wrinkling of aorta = tertiary syphilis (causes obliterative endarteritis of the vasa vasorum).
Friedrich\\\\\\\\\\\\\\\'s ataxia can affect IPSILATERAL graciel and cuneate nuclei.
arthritis of Reiters is similar to Rheumatoid.
Biceps muscle is injured in an Erb\\\\\\\\\\\\\\\'s palsy (C5,6).
Pautrier microabscesses = seen with mycosis fungoides (cutaneous t cell lymphoma).
low TSH levels (if not Graves) = monodermal teratoma (struma ovarii).
Kidney damage in a sickle cell crisis will occur at the VASA RECTA.
alpha 1 antitrypsin deficiency = increase in neutrophil ELASTASE.
chalky white deposits on liver = fat necrosis.
recall TBW from physiology.
C botulinum, O antigen of salmonella, exotoxins of S pyogenes, and Diphtheria toxin = lysogenic phage.
maternal diabetes = transposition of great arteries in fetus.
chemotactic factors for neutrophils are C5a and IL-8.
Apo CII = activates LPL.
Apo AI = found in HDL.
Apo B48 = forms chylomicrons.
Apo E = helps lipoproteins bind cell surface receptors.
Seizures predispose to a metabolic acidosis because of lactic acid production in muscles.
orthomyxoviridae variant production due to its possession of a SEGMENTED GENOME.
PAINFUL blisters on skin AND OROPHARYNX = Pemphigus vulgaris, while blisters that spare the oral mucosa, with pruritis = Bullous pemphigoid.
Total lung capacity will be INCREASED in COPD.
Prolonged QRS = bundle branch block (seen in coronary artery disease).
Prolonged PR interval = seen in acute rheumatic fever.
carbohydrate chains that will be part of glycoproteins are made on DOLICHOL.
white foam on top of urine = protein.
Tx methemoglobinemia w/methylene blue.
myositis ossificans = flocculent radiodensities surrounding a radiolucent center.
CD4 count in HIV patient with thrush = 200-399.
characteristic feature of apoptosis = peripheral aggregation of chromatin; whereas, karyolysis is seen in necrosis.
Mutation in microsomal transfer protein (MTP) = abetalipoproteinemia (consists of diarrhea, ataxia, night blindness, fat malabsorption, failure to thrive, pigmented retinopathy, acanthocytosis, and LOW cholesterol).
LCAT deficiency = elevated TGs and HIGH cholesterol.
Children predisposed for retinoblastoma are also predisposed for osteosarcoma.
prosopagnosia = inability to recognize faces.
Blue angels fly parallel to each other in calcium pyrophosphate crystals.
Ursodiol = reduces cholesterol secretion into bile and dissolves cholesterol gallstones.
KNOW the physiology formulas, especially renal.
energy for the flagella of proteus (or any bacteria) is located on the cytoplasmic membrane (since there are no membrane bound organelles).
alpha 1 receptor stimulation will give the strongest calcium signal.
schizont = infected cell packed with merozoites (daughter cells). Sporozoites are the infectious forms which are injected into humans during the feeding of the Anopheline mosquito. Dormant form of the trophozoite is the hypnozoite.
bulb of penis and urethra are in superficial perineal space.
IgM is always the first Ab to respond, even in a bee sting.
Monochorionic and monoamnionic or monochorionic and diamnionic = identical twins always.
large doses of antibiotics can destroy normal gut flora that makes vitamin K...so patient will be prone to hemorrhage.
Fragile X = trinucleotide repeat expansion.
PCR can determine whether tumors are heritable or sporadic.
CCK increases intestinal blood flow after a fatty meal.
finger clubbing, arthritis = suspect lung cancer.
KNOW how to do NPV, PPV, Sensitivity, etc.
A 17 yr old can\\\\\\\\\\\\\\\'t decide he wants to be taken off life support (eg. mechanical ventilation). His parents can\\\\\\\\\\\\\\\'t terminate his life. He must wait till 18 yrs old to decide. Docs can only decide it if he\\\\\\\\\\\\\\\'s brain dead..
In DIC, there is activation of both thrombotic and antithrombotic pathways. D dimer assay is used to detect fibrin split products.
ADH maintains plasma sodium concentration even if large amounts are ingested. Don\\\\\\\\\\\\\\\'t choose ANF, as it is released due to increased blood VOLUME.
L1 = ALL, L2 = ALL with more irregular nuclei. M1 = undifferentiated myeloblastic leukemia, M2 = differentiated myeloblastic leukemia, M3 = promyelocytic leukemia.
Familial hypercholesterolemia: Type 1 = chylomicrons,. Type 2a = LDL,. Type 2b = LDL and VLDL, Type 3 = chylos and IDL, .
Type 5 = VLDL and chylos.
infertility seen in Cystic fibrosis.
will see formation of hyaline membranes within alveolar cavities in Diffuse alveolar damage (ARDS).
Increased risk of breast cancer in fibrocystic change is due to EPITHELIAL HYPERPLASIA.
HYPERlipidemia seen in nephrotic syndrome.
ureter crosses anterior to the external iliac artery.
anti-cardiolipin antibodies = syphilis. Prevent Jarisch-Herxheimer rxn with mAbs to TNF( Tumor necrosis factor) or( Interleukin 1) IL-1.
Tubular carcinoma has an excellent prognosis.
In untreated syphilis, VDRL titer will eventually fall, while FTA-ABS will stay the same.
Calreticulin binds to misfolded proteins and prevents them from being exported to the Golgi apparatus.
Octreotide decreases blood flow to the PORTAL system, thus decreasing variceal bleeding.
Sibutramine = MAOI used to reduce appetite (Si my butt? I need to lose weight!).
Chemoreceptor trigger zone is located in the floor of the 4th ventricle. (I vomited when I got to the 4th floor).
condyloma acuminatum contains koilocytes.
thoracic duct found in the posterior and superior mediastinum.
Creutzfeldt-Jacob patients will develop amyloid deposition.
Venules and veins contain the largest proportion of blood volume.
iodine staining intracellular inclusion bodies = Chlamydia trachomatis (nonpainful lesion).
Temporal lobe herniation under the tentorium (due to trauma) may cause 3rd nerve compression. (uncal herniation).
eosinophilia with echinococcus.
multiple punctate calcifications in Honduran native who just suffered a seizure = neurocysticercosis.
labile toxin of E coli is similar to Vibrio enterotoxin (both activate adenylate cyclase by ADP ribosylation of GTP-binding protein in small intestinal crypt cells).
Diphtheria toxin and Pseudomonas exotoxin A are similar in that they both inhibit( elongation factor 2) ef-2
Pertussis increases cAMP by ADP ribosylating Gi
Verotoxin of Hemorrhagic E . Coli (of EHEC) acts similarly to shiga toxin (clips the 60S ribosomal subunit, shutting down protein synthesis).
Falsely high HbA1c( Hemoglobin A1c) if patient has iron deficiency or B12/folate deficiency anemia.
cystic medial necrosis (seen in Marfan) can give rise to aortic dissection.
Staph epidermidis is novobiocin sensitive.
minimal change disease is due to an altered cell mediated response with abnormal secretion of lymphokines by T cells.
Albinos are at increased risk for squamous cell carcinoma.
Bartonella henselae = lymphadenopathy with granulomas filled with neutrophils (with /wo fever).
Here r high yield stuff( DISEASES) which r usually asked in usmle (Biochem).
PL ADD ANY OTHER DISEASES.
Best of luck
=====Sickle Cell Anemia (Hb S disease)----- - Results when a glutamate is replaced by valine at position 6 of the b globin chain. Symptoms include anoxia, poor circulation, and crises when variables that lower oxygen affinity (i.e. ¬BPG, ¯pH, etc) are experienced.
=====Thalassemia---- - Results when either the a- or b- chain is defective. One type of thalassemia is caused by a nonsense mutation of codon 17 of the b-globin chain. Other thalassemias may be caused by deletion mutations. Either the a or b chains are involved in such disease and in some cases individuals might be carriers of certain mutations.
=====Tay-Sachs disease---- - Results with a base insertion in exon 11 of the a-chain of the hexoaminidase A gene, the most common found in patients of Ashkenazi Jewish background. Symptons include mental retardation, muscular weakness, blindness, and cherry red macula.
=====Xeroderma Pigmentosum----- - Results when there is a defect in the DNA repair systems specifically a deficiency of endonucleases involved in the removal of pyrimidine dimers (thymine dimers) from DNA. This disorder involves base excision repair and makes patients highly susceptible to skin cancer.
====Hereditary Nonpolyposis Colorectal Cancer ------ Disease caused by mutations in genes for proteins involved in mismatch repair. This cancer does not arise from intestinal polyps.
====Systemic Lupus Erythematosus --- - The body makes antibodies against many of its own snRNPs (small nuclear ribonucleoproteins) which are responsible for the splicing of introns.
===Iron Deficiency Anemia---- - Lack of dietary iron intake causes a decrease in heme synthesis and therefore a decrease in globin synthesis. Heme inhibits the phosphorylation of eIF2. When eIF2 is phosphorylated it is inactive, and protein synthesis is not initiated. Heme thus keeps eIF2 active and maintains globin synthesis so that Hb is made.
====Chronic Myelogenous Leukemia --- - A single line of primitive myeloid cells produces leukemic cells that proliferate abnormally, causing a large increase in the number of white blood cells in the circulation. Typical in CML is the presence of the Philadelphia chromosome which involves an exchange of DNA between chromosomes 9 and 22.
====Scurvy --- - Deficiency in ascorbic acid (vitamin C) which results in poor synthesis of collagen. Vitamin C is a cofactor in the hydroxylation of proline and lysine. Without hydroxylation, the H bonding between helices cannot occur
====Essential Fructosuria--- – deficiency of fructokinase. Benign asymptomatic condition. Fructose accumulates in the urine.
====Hereditary Fructose Intolerance---- – absence of aldolase B leads to intracellular trapping of fructose 1-phosphate. Causes severe hypoglycemia, vomiting, jaundice, and hemorrhage. Can cause hepatic failure. Therapy: rapid detection and removal of fructose and sucrose from diet.
====Uridyltransferase deficiency –----- causes galactosemia and galactosuria. Accumulation of galactose 1-phosphate and galactitol in nerve tissue, lens, liver, and kidney causing liver damage, severe mental retardation, and cataracts. Therapy: rapid diagnosis and removal of galactose (lactose) from diet.
====Galactokinase deficiency-- – causes galactosemia and galactosuria and leads to accumulation of galactitol.
====Pyruvate kinase deficiency---- – low ATP levels in RBC’s, glycolytic enzymes increased. High 2,3BPG levels which decrease O2 affinity.
====Glucose 6 phosphate dehydrogenase deficiency –--- causes hemolytic anemia. Disease variants include decreased production of enzyme, decreased catalytic activity and lowered stability. X-linked disease affecting over 200 million people. Sulfa drugs and antimalarial drugs induce hemolysis in G-6PD deficient cells. Infection also induces hemolysis.
====Maple Syrup Urine Disease ----– disease is due to a deficiency in branched-chain a-ketoacid dehydrogenase. Levels of branched-chain amino acids and their a-keto analogues are elevated in plasma and urine. Disease has high mortality rate. Neurologic problems are common.
====Pernicious Anemia – results from the lack of intrinsic factor which prevents the absorption of vitamin B12 (cobalamin). Patients are usually anemic but in development of the disease show neuropsychiatric symptoms.
====Propionic Acidemia ---– results from a deficiency in propionyl CoA carboxylase. Elevated levels or propionate (propionic acid) occur in blood. Odd-numbered fatty acids accumulate in liver. Developmental problems occur.
----Methylmalonic Acidemia – caused by a deficiency in methylmalonyl CoA mutase. Metabolic acidosis and developmental retardation may result.
====Phenylketonuria (PKU)--- – caused by a deficiency in phenylalanine hydroxylase. Most common inborn error of amino acid metabolism. Small fraction of PKU is due to a deficiency in either dihydrobiopterin (BH2) reductase or dihydrobiopterin synthetase.
====Alkaptonuria---- – disease due to a deficiency in homogentisate oxidase. Homogentisate accumulates forming polymers that cause urine to darken upon standing. Alkaptonuria is benign.
====Hypertyrosinemia---– disease due to a deficiency in tyrosine aminotransferase, 4-hydroxyphenylpyruvate dioxygenase, or fumarylacetoacetate hydrolase.
====McArdle’s Disease--- – results from a deficiency of glycogen phosphorylase in skeletal muscle. Moderate increase in muscle glycogen. Normal fasting glucose levels in blood. Vigorous exercise increases muscle ADP, induces cramps. Low lactate accumulation during exercise relative to unaffected individuals, consistent with decreased glycogen utilization in muscle.
====Cori’s Disease--- – results from a deficiency in debranching enzyme (glucosyl transferase) in muscle and liver. Abnormal glycogen structure (short outer branches) increased content. Hepatomegaly and cardiomegaly present. Hypoglycemia due to insufficient glycogen breakdown; growth retardation.
=====VonGierke’s Disease--- – results from a deficiency in glucose 6 phosphatase. Severe fasting hypoglycemia with elevated lactate and pyruvate. Hepatomegaly, excess glycogen with normal structure.
====Pompe’s Disease--- – results from a deficiency in lysosomal a-glucosidase in liver, heart, and muscle. Normal blood glucose levels. Increased liver glycogen, normal structure, accumulation in cytosol granules. Severe cardiomegaly and early death occur.
====Phorphyrias ---– Result from a deficiency in enzymes of heme biosynthesis pathway.
====Gout---- – Disease caused by excessive uric acid levels in blood. Can result from overproduction of purines or from decreased ability to excrete uric acid. Disease is treated with allopurinol which inhibits xanthine oxidase.
====Lesch-Nyhan syndrome--- –Caused by the defective enzyme HGPRT (hypoxanthine-guanine phosphoribosyltransferase) that is involved in salvage of purines. Excessive amounts of uric acid are also produced.
====Tay-Sachs disease--- – Deficiency in hexosaminidase A. Leads to accumulation of gangliosides.
===Gaucher’s disease ---– Deficiency in b-glucosidase. Leads to accumulation of glucocerebrosides.
====Niemann Pick disease---- – Deficiency in sphingomyelinase. Leads to accumulation of sphingomyelin.
=====Type I Hyperlipidemia---- – Deficiency in either lipoprotein lipase or Apo C-II. High serum TG due to accumulation of chylomicrons and VLDLs.
====Type II Hyperlipidemia ----– Deficiency in LDL receptor. High serum cholesterol and CE due to LDL accumulation. No down regulation of cholesterol biosynthesis.
----Type III Hyperlipoproteinemia--- – Defects in liver receptor and Apo B48. Failure to clear chylomicrons.
=====Coronary Artery Disease----- – Oxidatively damaged LDLs are recognized by macrophages. High blood glucose (as in diabetes) activates macrophage uptake. Uptake of LDL cholesterol does not down regulate synthesis of scavenger receptors. Excess cholesterol leads to foam cell formation and deposit in artery.
=====I cell disease---- – Characterized by lack of
phosphotransferase so mannose is not phosphorylated and can’t be targeted to lysosomes. Lysosomal enzymes are exported from the cell and are found in plasma. Lysosomes become deficient in most degradative enzymes.
GENETICS HY REVIEW :
1- AR inheritance…cystic fibrosis….xeroderma pigmentosum…Tay-sachs….sickle cell anemia….PKU(phenyl ketonuria)…hemochromatosis….many enzyme def
2-AR….Homozygote…25%.. heterozygotes…50%
2-Tay-sachs….ashkenazi jews….hexosaminidase def….AR…homozygote…25%
3-Example if heterozygote for Tay-sachs is 0.1 then first child with Tay-sachs disease is (0.1)(0.1)(0.25) = 0.0025
4-Cystic fibrosis(CF)…most common AR in whites…pancreatic insufficiency.(85%)…deletion of ..phenylalanine…at position..508…..responsible for protein folding…..
5-CF…sterility in male 95%.....inf staph..pseudomonas…cause of death.= pulmonary disease…..abnormal chloride channel protein(CFTR) gene
5-X-linked dominant…female…skipped generation is unusual…
6-X-linked recessive…male….male are hemizygous…female are heterozygotes(carrier)…
7-X-linked recessive….skipped generation are commonly seen because female can show mild(unaffected)
8- Male to male is not seen in X-linked
9-X-linked recessive…hemophilia A….Duchenne.muscular dystrophy
10-X-linked recessive…if mother is carrier…an affected male chance is 25%
11-X-linked recessive…if mother carrier and affected father…affected child is 50%
12-X chromosome inactivation.. is DNA seen as barr body in interphase…random…fixed(it happens in all descendants the same way)…incomplete(tips of long and short arms are not inactivated)
13-X chromosome inactivation…..random….fixed….incomplete
14-XIST…..primary gene causes X inactivation
15-Hemophilia A….mis-sense mutation in the factor VIII …mild disease
16-Nonsense mutation in the factor VIII…sever disease..because it makes truncated mutation
17-Duchenne muscular dystrophy…..gene dystrophin…death..cardirespiratory failure..frame shift mutation..X-linked
18-X-linked dominant…if mother is affected….50% male and female child affected
19-X-linked dominant..if father is affected…..50% female child affected
20-Autosomal dominant…..multiple generations are affected
21-Autosaml recessive…….skipped generatios are seen
22-Imprinting….the disease phenotype is very different ,when its tranmitted by mother or father
23-Imprinting .....prader-willi synd(father)……angelman synd(mother) both are ch.15…. deletion
24-Prader willi synd …mental retard..hypogonadism…obesity..deletion on long arm ch.15 transmitted by… father
25-Angelman synd….mental retard…seizures ataxia.. deletion… ch.15.. mother
26-Imprinting is based on …..methlation …of …DNA
27-Down’s synd…..trisomy 21….AML is seen with ..newborns….ALL…in older children
28-Mutation in ACTH receptor…cortisol…androgen…ACTH …adrenal cortex all are affected….but not….aldosteron ..that..is ..made ..in zona glomerulosa is independent of ACTH
29-GFR..M…..G lomerulosa…..F asciculata…..R eticularis …… …………..M edula
30-ACTH…….A ldosteron.......C ortisol……….T estosterone(androgen)……H ypertension(epineph)…
31-GFR…M = ACTH
32-Variable expression…different degree of phenotypes or faces of disease…like sever and mild
33-Variable expression….in mitchondria is named…..Heteroplasmy…...means..mutation is seen in only some of the mitochondria…..causes sever or …mild
34-Allelic Heteroplasty…different mutations ..in same locus ….
35- Allelic Heteroplasty….like mis-sense …and ..nonsense ..mutation in factor VIII gene
36-Mitochondrial ..inheritance….sperm cell has no mitochondria…so it comes from mother…..both male and female are affected
37-Mitochondrial inheritance…leber hereritary optic neuropathy…optic nerve damage
38-Mtochondria…disorder….offen expresses as …neuropathies and …myopathies
39-Brain and muscle are highly dependent on oxidative phosphorylation
40-MELAS….mitochondrial encephalomyopathy…lactic acidosis….stroke like
41-Myocolonic epilepsy….with ….ragged red muscle fibers
42-Mitochondria…….Leber…..MELAS…….Myoclonic epilepsy
43-X-linked…incidence and gene frequency are the same
44-Duchenne….X-linked….if incidence is,,,1/3000…then gene frequency is the same 1/3000
45-…..p + q = 1…..p = dominant allel q = recessive allel heterozygote carrier = 2q
46-Natural selection…African-American population with sickle cell anemia
47-Natural selection…..cystic fibrosis….resistant to typhoid fever
48-Natural selection…Hemochromatosis….in ..iron poor environment
49-Genetic drift….rapid change in gene frequencies in small population
50-Genetic drift…..Ellis van creveld disease…short stature.polydactyly…heart disease
51-Gene flow…exchange of genes among populations….sickle cell anemia ..seen in 1/600 African-American….
52-Ssickle cell anemia…..mutation in …..beta-globolin gene on chromosome 11
53-Consanguity…..increases incidence of …AR inheritance disease
54-Brain ….neuritic palaues…..neurofibrillary tangles….= ..Down synd..(alzheimers)
55-Edwards’ synd….trisomy 18…rocker-bottom feet
56-Patu synd ..trisomy 13…..polydacyly…cleft lip and palate….renal defect
57-Patu…..Edward…..die …before age 2 y
58-Variable expression…xeroderma pigmentosum…..hempophila A…neurofibromatosis type 1
59-Incomplete penetrance…in some people disease can not be seen…they are Obligate carrier but their father or mother are affected
60-Incomplete penetrance…hereditary hemochromatosis…familial breast cancer…retinoblastoma
61-Delayed aged of onset..huntington…familial breast cancer….familial colon cancer..
Hemochromatosis…….adult polycystic disease
62-Pleiotropy…..single disease… affects ..multiple organs…Marfan
63-Locus heterogeneity…..same disease…but …different loci…..ostegenesis imperfecta. Some on...ch.7 and…some on ….ch.17
64-New mutation…….acondroplasia(80% new mutation)…neurofibromatosis type1 (50% new mutation)
65-Anticipation……trinuclotide repeat…mytonic dystrophy…fragile X synd Huntington
66-Anticipation…recent generations have greater severity or earlier age(younger)
67-Barr body…can be seen in those with more than one X….46XX or 47XXY(klinefelter synd)
68-Barr body can not be seen in turner 45X….or 47XYY
69-Fragile X synd…..leading cause of inherited ….mental retardation
70-Fragile X synd…LONG arm of X chromosome elongation…LONG..ears(large)…LONG…testes(marcro-orchidism)…LONG range of joint motion(hypermobile joint)
71-Fragile X synd…..CGG repeat…..in the 5’ untranslated region of FMR1 gene
72-
* Step 1 *
* Genetics final version 11.07.06
#136434
iranmd - 11/07/06 20:46
1-AR inheritance…cystic fibrosis….xeroderma pigmentosum…Tay-sachs….sickle cell anemia….PKU(phenyl ketonuria)…hemochromatosis…albinism...many enzyme def
2-AR….Homozygote…25%.. heterozygotes…50%
2-Tay-sachs….ashkenazi jews….hexosaminidase def….AR…homozygote…25%
3-Example if heterozygote for Tay-sachs is 0.1 then first child with Tay-sachs disease is (0.1)(0.1)(0.25) = 0.0025
4-Cystic fibrosis(CF)…most common AR in whites…pancreatic insufficiency.(85%)…deletion of ..phenylalanine…at position..508…..responsible for protein folding…..
5-CF…sterility in male 95%.....inf staph..pseudomonas…cause of death.= pulmonary disease…..abnormal chloride channel protein(CFTR) gene
5-X-linked dominant…female…skipped generation is unusual….hopophosphatemic rickets….fragyl X synd
6-X-linked recessive…male….male are hemizygous…female are heterozygotes(carrier)…,Duchenne….Lesch-nyhan synd(HGPRT..def)…G6PD def….hemophilia A,,B….fabry’didease….Hunter synd(iduronate sulfatase def)
.Menkes disease..(gene encoding cu2+ =copper efflux)
7-X-linked recessive….skipped generation are commonly seen because female can show mild(unaffected)
8- Male to male is not seen in X-linked
9-X-linked recessive…hemophilia A….Duchenne.muscular dystrophy
10-X-linked recessive…if mother is carrier…an affected male chance is 25%
11-X-linked recessive…if mother carrier and affected father…affected child is 50%
12-X chromosome inactivation.. is DNA seen as barr body in interphase…random…fixed(it happens in all descendants the same way)…incomplete(tips of long and short arms are not inactivated)
13-X chromosome inactivation…..random….fixed….incomplete
14-XIST…..primary gene causes X inactivation
15-Hemophilia A….mis-sense mutation in the factor VIII …mild disease
16-Nonsense mutation in the factor VIII…sever disease..because it makes truncated mutation
17-Duchenne muscular dystrophy…..gene dystrophin…death..cardirespiratory failure..frame shift mutation..X-linked
18-X-linked dominant…if mother is affected….50% male and female child affected
19-X-linked dominant..if father is affected…..50% female child affected
20-Autosomal dominant…..multiple generations are affected
21-Autosaml recessive…….skipped generations are seen
22-Imprinting….the disease phenotype is very different ,when its transmitted by mother or father
23-Imprinting .....prader-willi synd(father)……angelman synd(mother) both are ch.15…. deletion
24-Prader willi synd …mental retard..hypogonadism…obesity..deletion on long arm ch.15 transmitted by… father
25-Angelman synd….mental retard…seizures ataxia.. deletion… ch.15.. mother
26-Imprinting is based on …..methilation …of …DNA
27-Down’s synd…..trisomy 21….AML is seen with ..newborns….ALL…in older children
28-Mutation in ACTH receptor…cortisol…androgen…ACTH …adrenal cortex all are affected….but not….aldosteron ..that..is ..made ..in zona glomerulosa is independent of ACTH
29-GFR..M…..G lomerulosa…..F asciculata…..R eticularis …… …………..M edula
30-ACTH…….A ldosteron........C ortisol……....T estosterone(androgen)……H ypertension(epineph)…
31-GFR…M = ACTH
32-Variable expression…different degree of phenotypes or faces of disease…like sever and mild
33-Variable expression….in mitchondria is named…..Heteroplasmy…...means..mutation is seen in only some of the mitochondria…..causes sever or …mild
34-Allelic Heteroplasty…different mutations ..in same locus ….
35- Allelic Heteroplasty….like mis-sense …and ..nonsense ..mutation in factor VIII gene
36-Mitochondrial ..inheritance….sperm cell has no mitochondria…so it comes from mother…..both male and female are affected
37-Mitochondrial inheritance…leber hereritary optic neuropathy…optic nerve damage
38-Mtochondria…disorder….often expresses as …neuropathies and …myopathies
39-Brain and muscle are highly dependent on oxidative phosphorylation
40-MELAS….mitochondrial encephalomyopathy…lactic acidosis….stroke like
41-Myoclonic epilepsy….with ….ragged red muscle fibers
42-Mitochondria…….Leber…..MELAS…….Myoclonic epilepsy
43-X-linked…incidence and gene frequency are the same
44-Duchenne….X-linked….if incidence is,,,1/3000…then gene frequency is the same 1/3000
45-…..p + q = 1…..p = dominant allele q = recessive allele heterozygote carrier = 2q
46-Natural selection…African-American population with sickle cell anemia
47-Natural selection…..cystic fibrosis….resistant to typhoid fever
48-Natural selection…Hemochromatosis….in ..iron poor environment
49-Genetic drift….rapid change in gene frequencies in small population
50-Genetic drift…..Ellis van creveld disease…short stature.polydactyly…heart disease
51-Gene flow…exchange of genes among populations….sickle cell anemia ..seen in 1/600 African-American….
52-Ssickle cell anemia…..mutation in …..beta-globolin gene on chromosome 11
53-Consanguity…..increases incidence of …AR inheritance disease
54-Brain ….neuritic palaues…..neurofibrillary tangles….= ..Down synd..(alzheimers)
55-Edwards’ synd….trisomy 18…rocker-bottom feet
56-Patu synd ..trisomy 13…..polydacyly…cleft lip and palate….renal defect
57-Patu…..Edward…..die …before age 2 y ..average for t18 is 2-3m
58-Variable expression…xeroderma pigmentosum…..hempophila A…neurofibromatosis type 1
59-Incomplete penetrance…in some people disease can not be seen…they are Obligate carrier but their father or mother are affected
60-Incomplete penetrance…hereditary hemochromatosis…familial breast cancer…retinoblastoma
61-Delayed aged of onset..huntington…familial breast cancer….familial colon cancer..
Hemochromatosis…….adult polycystic disease
62-Pleiotropy…..single disease… affects ..multiple organs…Marfan,,,.osteogenesis imperfecta
63-Locus heterogeneity…..same disease…but …different loci…..ostegenesis imperfecta. Some on...ch.7 and…some on ….ch.17
64-New mutation…….acondroplasia(80% new mutation)…neurofibromatosis type1 (50% new mutation)
65-Anticipation……trinuclotide repeat…mytonic dystrophy…fragile X synd Huntington
66-Anticipation…recent generations have greater severity or earlier age(younger)
67-Barr body…can be seen in those with more than one X….46XX or 47XXY(klinefelter synd)
68-Barr body can not be seen in turner 45X….or 47XYY
69-Fragile X synd…..leading cause of inherited ….mental retardation
70-Fragile X synd…LONG arm of X chromosome elongation…LONG..ears(large)…LONG…testes(marcro-orchidism)…LONG range of joint motion(hypermobile joint)
71-Fragile X synd…..CGG repeat…..in the 5’ untranslated region of FMR1 gene
72- Tumor suppressor gene…Two-hit ..model….mutation of …both copies(two hits) of genes are necessary to promote tumor growth
73-Tumor suppressor gene…is loss of function through deletion or mutation
74-Proto-oncogenes are mutation ..with gain of function….mutation of 1 copy is enough….CDK4….RET genes
75-Two-hit..model..=..retinoblastoma…familial breast cancer…familial colon cancer…melanoma…neurofibromatosis
76-Tumor suppressor mutation….retinoblastoma…mutation of ..RB1..gene…..wilms tumor…ch11
77-Melanoma….Tumor suppressor ( P16) …and….proto-oncogene(CDK4)
78-Tumor suppressor gene….APC gene…ch 5..adenomatous polyposis coli 85% of colon cancers
79-HNPCC….DNA .mismatch repair….hereditary nonpolyposis colorectal cancer..5% of colon cancers
80-Smoking…mutation in P53 gene results….disabled cell repair…lung cancer
81-BRCA 1 ..ch 17…..BRCA 2….ch 13…..both..are DNA repair genes….breast cancer
82-Li-Frauumeni synd….AD inheritance….breast cancer….mutation in …P53 gene
83-DM type 1……mutation in MHC II….young no insulin…heritability..moderate
84-DM type 2….10 times more common…insulin resistant…heritability…high…
Older…..obese
85-DM type 2…young type…Maturity onset diabetes of young …..MODY….AD inherit
86-Alzheimer…>65y…..early onset..= >..A B* E D C F
172Pericentric…includes centromere… A B * C D E F>>>….A D C* B E F
173-Paracentric changes are just one side of centomere
174-Pericentric ..changes are both side of centromere
175-AB woman…CD man…child ..is ..ACC…nondisjunction ..in the father during meiosis II
176-Child…is ..ACD…homologous nondisjunction in the father meiosis I
177-Child…is BBC…chromatid sisters nondisjunction…in the mother meiosis II
178-Nondisjunction causes trisomy or monosomy
179-Triploidy….2 sperm ..and fertilize 1 egg
180-Chance of X linked …daughter carrier of a mother carrier is 25%..and 25% for boy affected
181-Becker muscular dystrophy…Duchenne muscular dystrophy…both are X-linked
182-Becker is milder..frame deletion or insertion
183-duchenne…is frame shift deletion or insertion….causes truncated protein ..sever
184-If nondisjunction of Down syn occur during ..mitosis…not meiosis…this type is uncommon and causes mosaicism….a patient with down synd but normal IQ
185-If incidence of cystic fybrosis is 1/2500…then incidence of carrier is 1/25
..q2 = 1/2500…q = 1/50…2q = 1/25
186-Prader-willi synd….abnormal parent-specific methylation pattern
187-Ehler-Danlos..type IV..locus heterogeneity…mutation in type III collagen…fragyl skin..hypermobile joints..ecchymosis ..varicose veins..intestinal bleeding..dislocations
188-Menkes disease…X-linked…copper def…steely hair..arterial torturosity anemia osteoprosis
189-Highly repetitive sequences…in DNA….satellites(20-175 bp)…minisatellites(20-70 bp)…microsatellites(2-4 bp)
190-Microsattelites….is named STRs…simple tandem repeat..amplified by PCR
191-Microsatellites.+ PCR…for ..paternity testing…forensic cases..gene linkage
192-Microsatellite instability…is seen with loss of….mismatch repair…in..HPNCC..and..endometrial cancer
193-A man with tyrosinase negative albinism(ch 11) mates with a woman with tyrosinase positive albinism(ch 15)….the disease is AR inheritance….children are carrier
No of them show albinism…because..they are on different loci and they get just one of them
194-Large segment deletion of DNA…during meiosis crossover…alpha thalasemia(ch16)
Cri-du-chat..(ch5)
195-Mutation in splice sites..affects interon removal from hnRNA..beta thalasemia(ch11)
Gaucher..tay-sachs
196-Digeorge synd…deletions..in ch 22q
197-Blue eyes..is AR..and if rate is 1/100…the carrier incidence is 18/100
..q2 = 1/100..q=1/10..p= 9/10…carrier = 2pq = 2 (0.1) (0.9) = 18/100
198-Disease X-linked dominant…man is affected and woman is unaffected..penetrance is 60%...the chance of affected girl is….because all girls are affected..so its 100%
And penetrance is 60%.....(1) (0.6) = 0.6…..60%
199-A man with bilateral tumor vestibulocochlear..nerve…is neurofibromatosis type 2…ch 22 ..NF2 tumor suppressor gene
200-Ch 5q..=..APC familial colorectal cancer
201-Ch 13q..=..retinoblastoma…Rb gene
202-Ch 17q = neurofibromatosis type 1…NF1 gene
203-Ch 18q = DCC gene for gastric carcinoma…DPC..= pancreatic carcinoma
204-Intrauterine growth retardation..with normal karyotype is confined placental mosaicism
205-Patu..trisomy 13..poldactyly
206-Heinz bodies ..in blood smear….G6PD def X-linked…..trimethoprin/sulfamethoxazole
207-Osteogenesis imperfecta…ch 7
208-Achondroplasia…Huntington..= ch 4
209-SRY gene is located on …Yp…..inhibits DAX1..>> sertoli differentiation….secretion of mullerian inhibiting factor…male phenotype
210-A male karyotype 46XX …is ..because of abnormal cross over then X has SRY gene
211-A female karyotype…46XY…is ..because..ch Y has no SRY gene
212-To show linkage between loci….LOD score…LOD >3…shows linkage
LOD < -2..shows no linkage
213-……1 centimorgan(cM) = 1% recombination frequency….
214-……1 centimorgan = 1 million base pairs
Bites quick points (Cat bites > humans > dogs) Also look CMDT 1255
* If stray dog bites to some one give both Ig and vaccine....make sure 1/2 of Ig is sprinkled over the wound and half in the buttocks in kids and in adult in deltoid muscle...and make sure Ig and vaccine should be on separate sites of injection...
* If neighbours dog bites which has all his vaccination upto date then just reassure the victim and clean with soap and water....nothing to worry about
* If human bites to another human (Recall) a man comes with a bite wound that result in swelling of his whole forearm...and on qustioning he admitted that his wife bit him.. what u will do....since human bites r worse than all other because of aerobic and anaerobic bacteria in one’s mouth need special attention and since it was such an extensive lesion so we have to admit him and give him iv antibiotic....augmentin is good as out pt and inpatient u can give ampicillin, iv and clindamycin.
* If cat bites, ... if extensive wound then give ampicillin or augmentin
* If dog bites same augmentin or amp...(domestic)
* Scorpion bites ..... brown recluse ...will cause stinging sensation, sloughing necrosis need dexamethasone and tetanus....
* If black widow bites then u will have abdominal cramps and rigidity u have to give calcium gluconate ...
* A mom is worried that baby is so lethargic not taking bottle and she is not having any fever just dilated pupil on exam....and ans was did u give him honey lately
Pointers
Three vaccine can induce anaphylactic reactions in egg-allergic people: INFLUENZA, YELLOW-FEVER and MMR.
The MMR and yellow fever still can be given in egg allergic people.
Varicella zoster vaccine is given at age of 1 year! (with the MMR).
Influenza vaccine ==> all people > 50 YEARLY
Penumococcal vaccine ==> for adults above 65 with chronic diseases/immunocompromised
MALE HOMOSEXUAL..What vaccines you give beside Hepatitis B? Hepatitis A !!! (becuase hepatitis A transmits through the faeces like feco-oral or feco-mucosal route...Male homosexual are thus subject to Hepatitis A).
60 year old patient ..came with positive occult blood stool..sigmoidoscopy shows hyperplastic polyp..next step:
a-colonoscopy
b-do nothing
The answer is do nothing..Itis hyperplastic polyp..
60 year old patient ..came with positive occult blood stool..sigmoidoscopy shows tubular adenoma polyp..next step:
a-colonoscopy
b-do nothing
The answer is colonoscopy...It is tubular adenoma..It has risk of malignancy. So, you have to make sure that there are no more tubular adenoma polyps..sigmoidoscopy screens the descending colon only and doesn\'t reach the rest of the colon..so, colonoscopy should be the next step.
PAP shows ASCUS ==> Repeat test in 4-6 months
LGSIL/HGSIL on PAP ==> colposcopy and followed by cervical biopsy.
ITP ==> steroids are the first line. IVIG is the second line.
TTP/Gullian Barre ==> plasmapheresis
When the patient is in severe depression/suicidal tendency, he is not compotent:
30 year old man found on the floor with empty bottle of valium. A suicidal note was found saying that he wants to die peacefully and doesnot want any heroic procedures to save his life. Next step:
a-Flumazine i.v
b-Intubate and move to the ICU.
Choose B
For any drug overdose, do not choose the option of the anti-dote/the antagonist..remove the drug first by charcot/gastric lavage unless contraindicated.
Acetaminophin overdose..next step:
a-N-acetylcystiene iv
b-gastric lavage
Choose B
Don\'t afraid to give morphine for the pain management in patients with terminal stage of their cancers:
..but it should be under monitoring to prevent respiratory depression!!
75 patient with pacreatic cancer and severe back pain ..next step:
a-morphine intrathecal
b-morphine i.v every 3 hours
c-morphine i.v on needed basis
d-morphine i.v in a monitored bed.
Jump to D
Emancipated minor is the minor who lives alone/married/works
Pregnant minors are not emancipated but have the excetion of signing the consents!
A 16 year pregnant girl need Cesearan section for delivery ..who signs the consent?
a-In most states, she is emancipated minor.
b-In most states, she can sign the consent
Point your arrow to B
Jehovah\'s witness refuses blood transfuion..His Bp is 50/0..next step:
a-do nothing
b-iv fluids
Respect the autonomy but tries to do any supportive measure outside the conflict!! so jump to B
Do not respect the patient\'s wishes in organ donation if they parents refuse the donation even if he has the organ donation card! This is the only exception for the patient\'s autonomy after his brain death.
The spouse is the next after the patient (not his parents or siblings). Ask the wife for any consents if there is no guardian or advance directive!!
Treat keloid by intralesional steroids. The same thing for alopecia aerata (NOT topical!!)
Emergent reversal for warafin overdose is FFP (not Vit K) while emergent reversal of heparin is protamine sulphate (not FFP!!..The FFP is c.i.)
If the Q is clueless..choose the most common
70 yo patient with weight loss...next step; CXR (to exclude lung cancer which is the most common malignancy)
70 yo patient with fatigue...CBC (to detect iron deificency anemia..followed by colonoscopy becuase lower GI bleeding is the most common cause of iron deficiency in the US..NOT NUTRITIONAL CAUSE!)
EFFECTs of OCP:
HDL LDL Glucose TG
a low high high high
b high low high normal
c high high normal normal
d normal normal normal normal
e normal normal high high and high total cholesterol
The answer is E why?
Remember that estrogen increases HDL but decreases LDL
Progetreone decreases HDL and increases LDL
Their combined effects is nill!!keeping the levels of LDL and HDL normal
TG is elevated and impaired glucose tolerance!!
Patients with adenomyosis/endometriosis/leiomyomata uteri (refused surgery)..What is the medical treat? OCP. Remember all these cases are caused by state of hyperestrogenism..but you still have to give OCP..not progestrone only.
Patient with rheumatoid arithritis...refused to take steroids..The alternative drug should be: METHOTREXATE
Patient with SLE...refused to take steroids..The alternative drug should be: CYLCOPHOSMAIDE
Patient with Crohn\'s disease..The first line is s-ASA with metronidazole or cirpofloxacin...Steroids are SECOND LINE..AZATHIOPRINE or ^-Mercaptopurine are THIRD line. INFLXIMAB is the last line OR for the treatment of FISTULAS!!
Treatment of IBS (Irritable bowel syndrome)?? FIBER+ ANTICHOLINERGIC DRUGS like hyoscine
GERD ==> First line is therapeutic trial of H2 blockers , followed by Proton-pump inhibitors. If fails, go to 24-hr esophageal PH monitoring. Don\'t forget the life style modification before any pharmacologic therapy.
The following vaccinations should not be given during pregnancy becuase they are live attenuated virus vaccines:
1-Mumps/Measles/Rubella
2-Yellow fever
3-Varicella
REMEMBER>>>
A prgenant in her 2nd trimester exposed to a child with Varicella one day age. You checked her serum for varicella antibodies titre and it was negative..Give VZV ig (not vaccine) ..It should be given within 96 hours of exposure.
The mother ask you: Does the VZIG protect my fetus againts infection? NO. VZIG is given to prevent MATERNAL NOT CONGENITAL/FETAL infection!. The congenital varicella syndrome results from exposure during the first 16 weeks of pregnancy.
These vaccines can be safely given and their indications are not aletred by pregnancy:
1-Pneumococcus (polysaccharide)
2-Meningococcus (polysaccharide)
3-Rabies (killed virus)
4-Influenza (inactivated virus)
5-Hepatitis B (purified surface antigen)
6-Hepatitis A
7-Tetanus-Diphtheria (toxoid)
Pictures
pic of a kid with arm and mouth vesicular lesion i put cockscakie virus A....bcz it was hand mouth fooot diease kind of pic...
kid with the xray chest with pnumo one side and bowel other..cong diaphragmatic h
man with apple core lesion..colorectal ca
a fib ...ekg
3rd degree heart block
inf mi...st elevation in typical leads
pic of scabies
pic of pudohyphe
pic of shingles with eye involvement
pic of nodular cystic acne
ct of head with lenticualr mass .....epiduarl hematomaa.
achlasia....pic
Hematology Pointers
1) THE main DIFFIRENCE between TTP and HUS is lack of Neurological involvement in HUS....otherwise same as both have inc BUN/CRETINE both have INC LDH both ha THROMBOCYTOPENIA both have MICROANGIOPATHIC HEMOLYTIC anemia......both have SHISTOCYTES on periphral bloood smear...v imp for exammmm REMMBER BOTH HAVE NORMAL COAG AND NORMAL OTHER CELL LINES...
2)INC PTT IN CLASSIC HEMOPHILIA AND ITS XLINKED...TREAT WITH FACTOR 8 AND IF IT DOESNT CORRECT PTT THEN IT MEANS THAT PT HAVE ANTIBODIES AGAINST FACTOR 8 WHICH CAN OCCUR IN 10% OF TH E CASES AND TEST THIS WITH MIXING STUDY MEANING WHEN U WILL MIX PTS BLOOOD WITH FFP OR NORMAL BLOOOD NOTHING WILL CORRECT PTT IT WILL STILL INC ...TRETAMENT OF THIS WILL B CYCLOPHOSPHAMDIE ALONG WITH PREDNISONE
3)MOST COMMON CONGENITAL BLEEDING PROB IS WITH VON VILLIBRAND DIASES ITS AUTOSOAML DOMINENT...AND IT WILL INC BLEEDING TIME..INMILD CASES U CAN GIVE PT DESPOPRESSIN ,,,AND IN SEVER CASES CRYO WILL HELP...DONT GIVE DESMO IN SEVER CASES IT WILL MAKE IT WORSE..
4)DESMOPRESSINIS ALSO GOOOD FOR MILD CLASSIC HEMOPHILIA A...
5)IN ITP THERE WILL B MEGAKARYOCYTES ONPERIPHRAL BLOOOD SMEAR BCZ THERE IS INC RATE OF DISTRUCTION OF PLATELETS AND DEC FORMATION OF PLATELETS DUE TO AUTOIMMUNE PHENOMENON, ANTPLATELET IgG ANTOBODIES DESTRY ALL PLATESLETS SO THESE PTS R MORE PRONE TO HAV EMUCOSAL BLEEDING LIKE THEY WILL HAV E MENORHAGIA,OR EPISTAXIS.....FORTREATMENT IST TRY WITH PREDNISONE IT HELPS ALOT BY INC THE PLATELETS itworks by dec the affinity of platelets to activated macrophagesin th e spleen and steroid also dec the binding of autoantobodies toplatelets....tretament always start with low dose of platelets it will inc th eplatelets numb but if u hav eto keep thept on prednisoneor u hav eto inc the dose then do splenectomyis the definate treatmentofitp if they ask u in step 3,,,,but make sure that u give pnumovac and h influenza vac 2 wk prior to splenectomy,other drugs that use when platelets r low and causing bleeding or if pt is going for urgent surgery is ivig..its v expensive so only reserve for life thretening bleeders and its
always given slow and never in ppl who have igA defiency bc zthey will die from anaphylaxis...another imp point is that when pt cant go for splenectomy or cantbon prednisone or cant afford 5 k dollerivig give him danazol,or rh gam its helpful tooo...som e tried inflaximab group its helpful but infectionis the side efefct....so watch for that...if u c ccs in exam which most of u willl..... just treta as an out pt with prednisone and call pt in 2 wks and when platelets above 50 taper prednisone and advise for no contact sport..and pt teaching about diease ...v imp...
6)dic is dif from sub acute dic in thatpttis normal and fibrinogenis normal...and remmber in dic treat the underlying cause...
never give aminocaproic acid in dic without heparin bc zit cause severe thrombosis...
7)liver disease have both prolong pt and ptt but fibrinogen level is normal...ff will correct th ebleeding..
8)the dif bet the vitamin k deficiency and dic is noraml platelets and normal fibrinogen vit k will help....
9)if platelet r 10 k still u can perform splenectomy so never ever give platelets in itp when its in exam..bcz it will b destryed by the antibodies...
10)inmy exam they ask that baby had circumcison and lost lots of bloood on lab hisptt was 100 an his bleedint time was 12....and mom said his uncle has sam e prob he bled in suregry and after surgery...whatu will do u will check factor 8and 9...its dic,its ttp,its itpand blabla...
11)remmber factor x11 deficiney u wont have bleeding just inc ptt they canhave surgery without any prob its also callled hadgman factor deficiency..
12) ifpt is having factor 13 deficiency.u will hav e normal coag but still u will hav e bleeding....so remmebr these clues they will help u to exclude wrong choices in exam...
13)lupus anticoagulant antibodies is v imp subjects so u have to read about it.....its igG or igM antobodies taht produce aprolonged pttby binding to phospholipids,its present in 10% pt of sle and is characterized by recurrent abortion,and thrombosis .there is no bleeding unless second ry factor is presenttaht cause bleeding,the prolonged ptt will failed to correct with mixing study so that is a clue for diag....the russell viper venum isgood and senstive assey and is diag of lupus anticoagulant...antiphpjolipid and lupus anticoagulant will cause the false positive vdrl...u can suspect lupus anticoagulant when inc ptt but no bleeding and vdrl is in and anticardiolipid and natiphospholipid positive...predison is th ebest treatment and give heparin if thrombosis is suspected....
14)autologous bloood can b given to pt for surgery and it can b stored for upto 35 days...it dec the chance of infection and reaction..
15)i pack of rbc pack can raise the hct by 3-4%and prbc is used to raise hct ...not the whole blood that is reserved for sever hypovolemic pt...
16) dont transfuse awake juhuwa witness against his will but for a kid go ahead and transfuse if urgent or in nonurgent situation just tak e court oreder...ifkid belongs to juhuwa witness
17)always remmber when ever kid is in the womb mom will give consent for every thing evenif she is competent and refusing for csection and endangering her baby thats fine u just listen to her an d respect her wish..but as soon as she deliver she has no longer authority if child lif eis in danger....but for non urgent cases we stilll need her consent even if she is in jail or drug addict .....
18)febrile bloood transusion reaction pt need leukopooor bloood
19)for graft verses host reaction u need to give iiridiated bloood next time..
20)HIT need that u d/d heparin and coumadin both and start with leupridine...inc risk of thrombosis with the HIT...plez read more from wash manual ....21)...in cases of hemoglobuburia weather its due to rhabdoor bloodo transfusion reaction give vigrous hydration with n/s and mannito or lasix...so hemoglonuria will not damage kidney tubule....bcz atn will cause rf sooon..if will not go aggressive hydration v imp for exam....
21)ist day jaundance is always due to abo imcompatibility
22) if husband is onegative and wife is tooo no prob baby will b normal..(.cam e in my exam..)..case senario was that a gal is pregnantand her rh is negative and her b fd is rh positive and they tell s u in sep setting that this babyis not my b fd but my ex and he is rh negative what u will tell her....
23)delayed transfusion reaction is due to duffy,kell and c,e loci of rh system..they cause delayed reaction after 8 to10 days of transfusion..
.
24)i unit of platelet will inc 5 k of platelets usually we giv e 6 pack..
25)fever chillsl and sever backach eis due to heamolytic reaction,stop transfusion and give ns bolus and lasix..flush th ekid so no damage to tubule and no renal failure other prob is dic....
26)kid if they have dirrhea due to slmonella sheggella or due to e coli they will most like ly have hus so keep that inmind in exam they ask that akid ate hamburger while his father was stilll barb qing...an dkid has now fever and dec inc bun/cretinine .. and thrombocytopenia and in c ldh itS HUS
27)WALDSTROME MACROGLOBUNEMAI IS DUE TOMONOCLONAL IGm paraprotein and in MM ITS DUE TO IgG
THE MAIN DIFIS THAT NO LYTIC BONE LESION IN THE WALDSTROME ...the cause of death in mm is due to infection from streptp pnumoni and h infuenza...
28)hairy cell leukia is having pancytopenia,splenomegalyand hairy celll on p blood smear and bm biopsy
Isolation from School/Day Care :
1) Chicken pox: until all lesions have dried and crusted
2) Scarlet fever: until atleast 24 hrs after appropriate antibiotics
3) Rubella: 7 days after onset of rash
4) Measles: until 4 days after onset of rash
5) Mumps: return to school 9 days after appearance of parotitis
6) Strep pharyngitis: until 24hrs after appropriate antibiotics
7) Parvovirus B19 (5th disease): until appearance of rash [pregnant pt should be evaluated]
Rota virus: until stool is contained by diapers or toilet use
Factitious Hyperthyroidism:
Pt is a nurse with symptoms of hyperthyroidism - Graves Dz vs. Factitious hyperthyroidism distinguished via :
a. TSH
b. FT4 concentration
c. T3 resin uptake
d. TSI (thyroid peroxidase antibody)
Discussion: In factitious hyperthyroidism following labs are seen:
-Thyroglobulin level is low or undetectable
-RAIU decrease
-Low TSH
-T3 and T4 increase.
If only T4 is ingested....Serum T4 could be low. (low TSH)
But in graves there is Antibody.......In factitious No
Recalls:
Q: Infants begin to differentiate their mom’s face and voice at
A. 1 WEEK OF AGE
B. 8 week of age
C. 12 weeks of age
D. 7 months of age
Ans: 1 week of age
Q: Prognostic Sign in Bell’s Palsy is
A. Lack of Parotid gland swelling
B. The presence of incomplete paralysis after 5 days
C. The presence of only a few herpetic vesicles.
D. A lack of motor involvement of tongue
Ans: The presence of incomplete paralysis after 5 days
Q: A patient recovering from Meperidine addiction sustains traumatic injury. What therapeutic modality is appropriate:
A. Accupunture and cold packs
B. Adequate dose of morphine
C. Trans-cutaneous electrical stimulation
D. NSAID
Ans: Adequate dose of morphine
Q: Which vaccine is contraindicated in a 4 year old child receiving immunosuppressive therapy?
a)HAV
b)Acellular pertussis
c)IPV
d)varicella vaccine
Ans: Varicella vaccine
Q: A patient with chronic malabsorption presented with absent tendon reflexes, ataxia, loss of pain sensation, ophthalmoplagia, and anemia. He is suffering from which of the followin vitamin deficiency?
a) vit. A
b) vit. B12
c) vit. C
d) vit. D
e) vit. E
Ans: Vit E
Neurologic findings follow a pattern of progression that can be divided into early and late stages.
Early findings include hyporeflexia, decreased proprioception, decreased vibratory sense, distal muscle weakness, nyctalopia (night blindness), and normal cognition.
With continued deficiency, neurologic symptoms progress and patients can develop truncal and limb ataxia and diffuse muscle weakness. Further eye problems may develop, including limited upward-gaze nystagmus and dissociated nystagmus.
Late manifestations include areflexia, loss of proprioception and vibratory sense, dysphagia and dysarthria, cardiac arrhythmias, ophthalmoplegia, and possible blindness. Cognition may be affected in later stages, and dementia can occur.
Q: Which one of the following vitamin deficiency causes squamous metaplasia of the airway, pulmonary infection, renal stones, immunodeficiency, and it is used as a supplemental treatment in some patients with measles?
a) vit. A
b)vit. B
c)vit. C
d)vit. D
Ans: Vit A
Q: 70 yr old male experiencing attacks of \"whirling sensations\", nausea, diplopia, dysarthria and tingling of lops. Episodes occur several times a day and are so severe,he collapses and becomes immobile.
A. Panic attacks.
B. Benign positional vertigo.
C. Vertebro-basilar insufficiency
D. Cataplexy
Ans: Vertebro-basilar insufficiency
Q: Alcohol dependent on Disulfiram reports recurrent craving.
Which medication is suitable?.
A. Paroxitine
B. Carbamazepine
C. Naltrexone
D. Propanolol
Ans: Naltrexone
Q: Late stage of HIV infection, the most common neurologic complication.
A. Cytomegalovirus encephalitis
B. HIV polyneuritis
C. AIDS dementia complex.
D. Cryptococcal menigitis
Ans: AIDS dementia complex
Q: 21 yr old female with lethargy, restlesness, confusion, diaphoresis, tremors and myoclonic jerks. She is receiving trearment for depression and does not know the name of pill. What is it?
A. Tyramine reaction.
B. Anticholenergic reaction.
C. Serotonin syndrome.
D. Neuroleptic malignant syndrome.
Ans: Serotonin syndrome
Q: Evidence is accumulated that ADHD is connected to:
a) Dopamine
b) serotonin
c) melanin
d) estrogen
Ans: Dopamine
Q: Cause of death in hospitalized elderly:
a) UTI
b) Pneumonia
Ans: Pneumonia. Most common infection is UTI
Q: A 29-year-old woman presents with an exacerbation of her asthma. She is 11 weeks pregnant. She has mild intermittent asthma and usually takes a b-agonist as needed. She has one 4-year-old child who is in day care and has had a recent upper respiratory tract infection. She has a dry cough, clear nasal discharge, myalgias, and fatigue.
On physical examination, she is talking in full sentences and has normal tympanic membranes, mildly erythematous oropharynx without exudates, no adenopathy; she has positive wheezing bilaterally. The peak flow is 300 mL; her usual result is 390 mL. Pulse oximetry is 93% on room air.
Which of the following is indicated in the management of this patient?
(A) Amoxicillin
(B) Theophylline
(C) Prednisone
(D) Montelukast
(E) Flunisolide
A: Answer: E Flunisolide
Manage asthma in a pregnant patient
Treatment principles for asthma in the nonpregnant patient apply also to the pregnant patient. She has mild intermittent asthma with an exacerbation, for which therapy with an inhaled glucocorticoid is an appropriate choice. Use of inhaled glucocorticoids is safe in pregnancy.
Q: What is drug of choice pt with HTN and DM II but no proteinuria
A: Inhibition of the renin–angiotensin system with an ACE inhibitor or angiotensin II–receptor antagonist is warranted to decrease both blood pressure and albuminuria; the dose should be titrated upward to the moderate or high range, as tolerated, to achieve a systolic pressure below 130 mm Hg and a diastolic pressure below 80 mm Hg. Although data from clinical trials provide stronger support for the use of angiotensin II–receptor antagonists than for the use of other agents in patients with type 2 diabetes and microalbuminuria or macroalbuminuria, in the absence of a direct comparison of the two strategies, we consider either of these classes of medication to be a reasonable first choice. Serum potassium and creatinine should be checked in all patients seven days after the initiation of treatment with drugs that block the renin–angiotensin system and after any increase in the dose of such drugs. A beta-blocker or diuretic — or if these agents are inadequate, a nondihydropyridine calcium-channel blocker — sh
ould be added if ACE inhibitors or angiotensin II–receptor antagonists are insufficient to maintain blood pressure in the desired range . We consider adding dihydropyridine calcium-channel blockers or alpha-blockers only when the target for blood pressure is not met with the use of these other approaches
-review article from NEJM
Q: Q:
ileojejunum bypass, diarrhea, what kind of fluid you give?
A: choice is TPN, BUT normal saline+calcium and magnasium replacement
Q:
75 y/o male constipation, no other abnormalities, what is most likely cause
A:
Constipation is seen in 30% of elderly.
It\'s usually due:
-Declined or impaired general health status
-Drugs: Verapamil
- diminished mobility and physical activity
Treatment: Bowel training, exercise, high fiber diet and increase fluid intake
Pharmacologic treatment: Bulk laxative, emolient laxatives, hyperosmalar laxatives
Renal
Q:
post mva suspect bladder trauma, most sensitive exam
a ct
b u/s
c peritoneal lavage
d kub
A:
Preferred Examination: Retrograde cystogram, performed after urethrogram, was considered the criterion standard for evaluation of bladder trauma. However, in recent years, enthusiasm has grown for CT cystography for proper diagnosis. Initial studies were not indicative of CT reliability when retrograde contrast was not used. However, contemporary studies have overwhelmingly demonstrated both sensitivity and accuracy, provided that adequate bladder distention with contrast material is achieved prior to performing the study with at least 300-400 mL of contrast.
Ultrasound has never been sensitive or specific enough to be useful for evaluation of bladder rupture.
Even in this article it is CT Cystography. So I think rather than choosing CT, cystography is a better choice
Other said: also emed. Most patients have multiple injuries and require abdominal or pelvic CT scans as part of their trauma evaluation. This does not preclude obtaining a separate contrast cystogram, since a CT scan of the pelvis using intravenous contrast alone is an unreliable study for bladder rupture.
A properly performed cystogram consists of an initial kidney-ureter-bladder (KUB), followed by anteroposterior (AP) and oblique views of the bladder filled with contrast, plus another AP film obtained after drainage. The following procedure is recommended:
So kub first, if cystogram then it is the answer, ct will not be the intial as pt will be too sick and pelvic # need more er management first.
Q: Nausea, vomiting taking digoxin, stable, k+6.0
a) give ca gluconate
b) digiband
c) take digoxin levels
A: Digiband see CMDT 1574
Q: Q:
A 50 year old man presents with a 1-day history of recurrent swelling and pain of the left leg. He was discharged from the hospital 1 week ago after being treated for deep vein thrombophlebitis of the same leg. Since discharge he has been taking warfarin, 2.5 mg daily. His INR is 1.2. A venogram documents recurrent thrombosis extending to the inferior vena cava. Which therapy would you now recommend for this patient?
1.Increase the warfarin dose to bring the INR into therapeutic range
2.Switch to dicumarol
3.Interrupt the inferior vena cava with a filter
4.Discontinue warfarin and begin heparin at a therapeutic dose
5.Discontinue warfarin and begin thrombolytic therapy
Explanation
Answer: 4
This 50 year old man has suffered a recurrent venous thrombosis, most likely from suboptimal prophylactic anticoagulation. The target INR for warfarin anticoagulation to prevent recurrent thromboembolism is 2.0-3.0. When a new thrombosis is diagnosed, therapeutic doses of heparin must be initiated. Simply increasing the warfarin dose to bring the INR into therapeutic range is inadequate, because warfarin is used for prophylaxis only, rather than for the treatment of acute thrombosis. For the same reason, switching to a different anticoagulant like dicumarol would be ineffective. After starting up heparin he should be restarted at a higher dose of warfarin.
Interruption of the inferior vena cava with a filter is primarily indicated only for patients in whom anticoagulation is contraindicated or in whom thrombosis has recurred despite adequate prophylactic anticoagulation. Neither of these considerations applies to this patient.
Thrombolytic therapy is not necessary in most case of DVT of the leg. This mode of therapy can be considered in patients with extensive venous thrombosis, particularly involving extension into the inferior vena cava, in order to prevent long-term postphlebetic complications.
Q:
The method of choice for initial evaluation of bone involvement in patients with multiple myeloma is.
A - Technetium-99m bone scanning
B - Conventional roentgenograms
C - CT-scanning
D - MRI of the skeleton
E - None of the above
A: Skeletal series
Perform a complete skeletal series at diagnosis, including the skull (a very common site of bone lesions in multiple myeloma), the long bones (looking for impending fractures), and the spine.
Diffuse osteopenia may suggest myelomatous involvement before discrete lytic lesions are apparent.
The findings on this evaluation may be used to identify impending pathologic fractures, allowing physicians the opportunity to repair debilities and prevent further morbidity.
Do not use bone scans to evaluate myeloma. Cytokines secreted by myeloma cells suppress osteoblast activity; therefore, no increased uptake is observed.
MRI scan
Findings on MRI scans of the vertebrae often are positive when plain radiographs are not.
For this reason, evaluate symptomatic patients with an MRI scan to obtain a clear view of the spinal column and to assess the integrity of the spinal cord.
( Ref: emedicine)
bone scan is unreliable in multiple myeloma because the lytic process of MM doesn\'t take up radioisotope.
MR is no specific for bont lesions of MM,could use if to see extramarrow hematopoietic sites.
End of the session on this question.
Endocrine
OBGYN
Q:
pregant pt c urinary stone, next exam
a u/s
b. ivp
c ct
A: u/s, ct is contraindicated also ivp(contrast terato)
Q:
Estrogen replacement therapy has risks, which one is not
a. gallbladder dx
b. breast ca
c. uterine ca
d. pacreatitis
e. thromboembolic dx
Q:
A 37 y/o F G2P1, at term gestation has been in the 2nd
stage of labor for 2 hrs. The fetus appears to be average size, so forceps are used. After delivery of head, the shoulders become entrapped. Each of the fellowing maneuvers can be used for shoulder dystocia EXCEPT
1. Suprapublic pressure and McRobert\'s maneuver
2. Delivery of the posterior arm
3. Woods screw maneuver
4. fundal pressure
A: dont give fundal pressure in shoulder dystocia, ans 4
The recommended sequence for reducing shoulder dystocia begins with calling for help and asking the mother to stop her pushing efforts (Figure 4). The first step is the McRoberts maneuver, in which assistants hyperflex the mother\'s hips against her abdomen, thereby rotating the symphysis pubis anteriorly and decreasing the forces needed to deliver the fetal shoulders
If the McRoberts maneuver does not result in delivery, the physician may want to perform an episiotomy (if needed) and call in the anesthesia and neonatal teams. The Rubin maneuver (or the reverse Woods screw) can then be tried.
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mudpiles_jiggy_cram facts