good for those whos exam is near - rizowana

[ArchivalUser]

Block One
1. Reactive Hyperemia?? What will happen to the blood flow after a vessel is occluded and the muscle is made to exercise. Will the blood flow to the tissue increased or decreased
2. Brown fat what is it and if it™s used in infant as a source of nutrition.
3. Breast cancer and its staging there were 2 questions on this One asked how wud u grade the system what would u include in under T0 or T1 and the second one asked about the when does the decision of excise the lymph nodes is made.
4. Vincristine?? MOA
5. Mesna
6. Microtubules what r they and what r their functions
7. Radial nerve and its course
8. Common Peroneal Nerve
9. If doing a venopuncture and the needle goes deep into the tissue pain radiates in the arm which nerve is hit. >>> Depending on the location of the venopuncture which they showed u have to choose between Musculocutaneous or Radial n.
10. Lung Pic Gross >> Upper Lobe semi-cavities but blackened which I thought was Sarcoidosis because the cavities were in the centre of the Lobes and it didn™t look like it was Anthracotic pigment
11. CXR showing Ghon complex but u had to figure out if there was any fungus ball in the CXR and the details were of an alcoholic, IV abuser and homeless man and that™s about it. U had to play odds whether this was MAI or Miliary TB
12. A homeless, alcoholic, non-diabetic person, couple of things were happening to him suddenly has urethral pain becomes oliguric. Now they tell u that they saw stones under polarized light and they appeared to be biferingent. They show a picture of CS of Kidney all the background was blackened with scattered crystals emitting pink red hue to it. I tried to see even if they were octagonal or hexagonal but couldn™t figure it out. Now the question was that what do u give this person: - Steroids, Uricosuric agents, Chemotherapy, Diuretics, Balanced Diet. The difficult thing was that one had to be very sure of whether this is Amyloidosis or Simple increased Uric acid concentration which can be due to Increased NADH due to Alcoholism
13. cutaneous nerve supply of the lower aprt of the leg medial is which of the spinal cord component.
14. Obturator Nerve
15. Pudendal Nerve
16. Lymphatic drainage of the lower limb the superficial drainage
17. how does a varicocele develop
18. what r the layers of the varicocele
19. What™s the Embyrology of the Inguinal hernia
20. fracture of the clavicle what structures r bound to be damaged the most
21. Another CXR which showed the Fracture of the clavicle and the clinical picture of the hemomedinastium was given now u had to give best course of action by the EMTs
22. CXR showing the posterior dislocation of the Shoulder joint which muscle is most likely to be injured
23. CXR showing the Superior dislocation of the Shoulder joint which structure is most likely to be affected
24. Brachial Plexus injuries >> I think the superior Cord
25. Medial nerve and its course
26. Fracture of Humeral Joint which specific artery and nerve is most likely to be injured
27. Rupture of the bladder due to trauma they show the dye with in the bladder and the outside the bladder and then they show MRIs and ask u where else is the Dye seen
28. If u have lacerated spongy urethra where will the urine end up in the which anatomical space
29. If the musclar urethra is injured then which anatomical space is the urine most likely to be headed
30. Identify a tumor just based on the different MRIs
31. MRIs of the Knee joint asking to identify the location of the Anterior crucial ligament
32. MRI of the Knee Joint and Figure out by the secanrio whether the Medial or lateral Colateral ligament is torn
33. Identify Intussusceptions on XR
34. Identify Small bowel Obstruction on XR
All these MRIs and CT were presented to me in the 5th and 6th block

35. A Gross pic of Hemorrhoids coming out of anus the pic was clear but full of blood so it was really hard to differentiate between hemorrhoids and anal fissure
36. 50 yrs female occult bleeding there is no family history of cancer. Show u a gross and a microscopic picture. Identify which sort of a polyp it was
37. same picture male different gross and histo didn™t look anything like in Goljan or Webpath but the histo had a lot of the fat cells beneath its muscosal layer
38. Thyroglossal cyst
39. Di geroge Syndrome
40. Effects of the tumor regressing drugs
41. if u r given Interferon Alpha which of the receptors r expected to be activated in the cells
42. if u given IL-2 then what sort of lineage be found decreased in the blood
43. Ant Mediastinum 5 XR where I had to pick one with an Adult with Thymoma
44. Compression of Sub-Clavian vein was given but described in such a way that it was very hard to figure out what it was. Because the Pt closely resembled a pericardial effusion u had to be very sure that the scenario was correctly described. The clue they had given u was presence of SIADH
45. Position of ventricles behind the sternum was asked in a way that it took me three reads to figure it out. Because the scenario was somewhat of a traumatic accident where the pt was hypotensive and had pericardial effusion but then asked u where the wound of entry was.
46. Vessel occlusion is told then they ask u tell whether the effect of Mitochondria in hypoxia can be identified by presence of in the cytoplasm
47. if a muscle is made to exercise for 10 mins and then made hypoxic then what will be found in the nuclear material in the cells
48. what actually causes the vessels to dilate in conditions of hypoxia and what happens at the cellular level where does the initial signaling starts
49. Which type of RNA will be found in the nucleolus if the muscle was made to exercise for 10 mins and then after vessel occlusion its made to exercise for one min
50. Germ cell tumor of ovaries.
51. Ca 125
52. AFP
53. why do the small arteries not respond to hypoxia of chemical nature
54. Pt had a time lag in the both his Radial pulses while both his carotids were normal. Coarctation of Aorta was told to u but u had to figure out where the pathology lies
55. PDA was asked in such a way that if don™t know the values of the Pressures in all the chambers of the Heart u r totally screwed. This is only given in UW and nowhere else.
56. MS was of an infant
57. MR of an old Polish lady along with a gross pic. They didn™t say it was MR u had to figure it out by the Gross pic
58. MVP a gross picture was given and figure out what it was.
59. Vegetations on the Heart shown by Gross pic and u had to figure out what sort of the vegetation it was some help was given by the clinical picture they had given.
60. same as above but no clinical scenario was given
61. Aortic dissection
62. Biventricular hypertrophy > genetics and pathophysio
63. Rheumatic fever in children and in adults everything about it there is to know.
64. Cardiac volume loops *2. A pt with HF on digioxin and the effects of epinephrine on the Cardiac loop. The loops were given as choices
65. I-cell disease
66. Sickle cell anemia :- 2nd most imp rate limiting enzyme
67. Lead Poisoning : what actually causes the enzyme blockade
68. Lead Poisoning : the 2nd most imp rate limiting step
69. Sickle cell osteomyelitis 2nd most common organism
70. Myelofibrosis
71. Essential Thrombocytopenia
72. Inf. Mono
73. Pernicious Anemia
74. Acid Base *2
75. O.I
76. Marfans
77. Ehler Danlos
78. Gout
79. Septic Arthritis
80. Aseptic Arthritis
81. APKD
82. Fibrinolysis
83. I-CAM and its involvement in Chemotaxis
84. LAF
85. myc gene
86. APC gene
87. How to find primary pathogen from a culture which includes non pathogenic flora
88. HIV gene * 3
89. DOC in bactriodes in Children
90. DOC in gram “ve sepsis
91. Clostridium difficle DOC * 2
92. DOC Mycobacterium Avium
93. Trypansomas cruz
94. Chagas disease
95. Why multi regime anitmalarials r used ( there is a similar question in KQbank or UW but the choices were different
96. MOA of NO
97. 2nd Messengers Learn them all Seriously
98. Chemical Structures of IP3 and DAG figure out which is IP3
99. Chemical Structures of Ketoconazole.
100. Question stated MOA of Ketoconazole then asked by giving the list of reactions at which step does Ketoconazole act
101. SE of Bleomycin
102. SE of DNA polymerase (they didn™t say that it was Acyclovir but u shud know what is DNA polymerase
103. DOC for CMV Retinitis
104. DOC for AIDS Retinitis
105. Reason for Multidrug resistence in HIV
106. Ribavirin
107. Chemical Structure of Biphosphonates
108. Which form of Vit D shud be in osteoporosis
109. Gardener with absolute lymphocytosis and lymphatic blockade. Given a gross pic asked u whether this Elephantiasis but no though the normal eye would perhaps but the gardener was the real buzzword. Think superficial fungus :- Sporothrix schenckii
110. Histoplasmosis
111. Blastomycosis
112. Cocciodies
113. Relationship of the COPD with macrocytosis and why :- CO2 retention.

[ArchivalUser]

mdsurgeon - 08/09/08 16:30

Zoonotic organisms
1. Brucella==>from goat,sheep, cattle, unpasteurized dairy product(specialy imported cheese).
2. Bacillus anthracis==>spore from goat,cow, animal hair,wool, spores from dead animal
3. Listeria monocytogenes==>animals,(GI&UG) umpasteurized milk, plants,soil. Cabbages(coleslaw)
4.Salmonella enteritidis==> chicken product(raw chicken &egg), turtles.
5.Campylobacter==>cattle, sheep,dogs,cats,poultry(most important).
6.Q fever (Coxiella burnetii)==>pregnant animal , aerosols ofanimal urine, feces amniotic fluid,placental tissue
7.Chlamydia psittaci ==>birds , parrots turkeys.
8.Francisella tularensis==>tick bite= dermatocentor. Rabbits deer, rodents.
9.Pasteurella ==>cat bite , or dogs. Mouth of animal.
10.Yersinia pestis ==>flea bite. Rodents,prairie dogs, chipmunks,squirrels, field mice.
Yersinia enterocolitica==> unpasteurized milk, pork.

[ArchivalUser]

http://www.punisher.byethost16.com/

very usefull link sply for beginners. thanks to masha.

[ArchivalUser]

hey thanx for the help ...but yaar its mcu to do .m scared..btw when is your exam ...

[ArchivalUser]

AUTOSOMAL DOMINANT


Mnemonic: POPS is from MAN Hunt Family-2

P-Ploydactyly
O-Osteogenesis imperfecta
P-Polycystic kidney(Adult)
S-Spherocytosis

M-Marfans
A(A3) *Acute intermittent porphyria
*Alpha 1 Anti trypsin Deficiency
*Achondroplasia
N-Neurofibromatosis-1

Hunt-Huntingtons disease

Family-2:Familial Polyposis Syndrome
Familial Hypercholesterolemia

[ArchivalUser]

BIOCHEM HIGHYIELD

1-phenylalanine changes to tyrosine and tyrosine gives catecholamines

2.-lysosomal enzymes.defect in mannose phosporylationI-cell diseasecoarse facial

3-familial hypercholestromia ..AD inheritance xanthoma.apo B100 receptor deficient..LDL

4-competitive enzyme.increase Km.noncompetitive and irreversible enzymes decrease Vmax

5-wernicke “korsakoff syndrome thiamine deficiency ..confabulation ..mamillary bodies dry beriberi wet beriberi alcoholics

6-Tay-sachs diseasehexosaminidaseA def .ganglioside GM2 accumulating cherry red spot in macula blindness death>>>..sphingosine>>>> ceramid
Cermid..+cholin>>> sphingomyelin..
ceramid+..udp- glu and udp- galac..>>>cerebrosides...
cerebrosides..+sialic acid>>>>gangliosides

32- Tay-sachs diseasehexosaminidaseA def .ganglioside GM2 accumulating cherry red spot in macula blindness death>>....FA-carnitine(outer membrane)>>>FA-CoA>>>.Acetyl-CoA>>>.ketones .and.citric acid cycle(matrix) lysine changes to carnitine by methylation...

54-FA-CoA to Acetyl-CoA by LCAD ..and.. MCAD enzymes
MCAD (medium chain acetyl CoA dehydrogenase) def..fasting hypoglycemia.hypoketosisdicarboxylic academia.Flu liketreat..with IV glucose

55-carnitine acetyltransferase (CAT )defand carnitine palmytotransferase (CPT) def .. myopathy..myglobulinuriaelevated muscle triglyceride..happens by fasting and exercise

56-carboxylation of glutamic acid needs vit K

57- decarboxylation of alpha ketoacids needs thiamine

58-gallstones made of calcium bilirubinate in sickle cell anemia

59-pyrovat

60-pyrovateto.. Acetyl Co A.. ..by pyrovate dehydrogenase ..thiamine dependant

61-pyrovate tooxaloacetate.by..pyrovate carboxylasebiotin dependant

62-thiamine dependant enzymespyrovate dehydrogenase.alpha “ketoglutarate dehydrogenase(TCA) cycletransketolaseHMPshunt

63-alanine..and lactate..change topyrovate

64-amino acid metabolism.

65-in musclepyrovate change to alanine

66-in liveralanine ..and aspartate..and NH3.enter to urea cycle..gives urea

67-in tissuesglutamate +NH3..chnages to glutamine..it enters kidney

68- in kidneyglutamine changes to ..glutamate +NH3then to NH4 then NH4 + urea .enter to urine

69-amino acid ..metabolism in muscle and liver are vit B6 dependant

70-urea cycle in liver.

71-NH4+HCO3 . >>>>.carbamoyl phosphateby carbamoyl phosphate synthetase I..def of this enzyme causeshyperammonemia ,,elevated blood glutaminedecreased blood urea and BUN cerebra edema

Carbamoyl phosphate+ornithine>>>citruline..by ornithine transcarbamoylase.def of this enzyme causeshyperammonemiaelevated blood glutamine..decreased blood urea and BUN .and..increased uracil and orotic acid in blood and urine

72-Citruline+aspartate.>>>>arginosuccinate.>>>fumarate..+arginine

73-Arginine>>>> urea +ornithine.

74-ketogenic amino acids..leucine lysine

75-mitochondria..innermembrane.carnitine acyl transferase II

76-mitochondria.outermembrane.fatty acyl CoA synthetase

77-G6PDHhexokinasepyrovate kinaseare..in cytosol

78-folate defovercooked food and old foods

79-concentration of enzyme elvationincreasingVmax

80-Km cannot be changed by substrate or enzyme

81-G6PD def..susceptible to oxidative stress..antimalarial drugsprimaquine..nitrofurantoinsulfonamides infections.favabean

82-tyrosine >>>dopaby tyrosin hyroxylase..

83-dopa >>>> ..dopamine.by ..dopa decarboxylase

84-dopamine..>>>norepinephrineby dopamine beta hydrxylase

85-norepinephrine>>>> epinephrineby phenylethanolamin “N-mthyltransferase(PNMT)

86-Hurler disease lysosomal storage disease..alpha-L-iduronidase def

Cardiomayopathy..corneal cloudingheparan sulfate and dermatan sulfate accumulation

[ArchivalUser]

YIELDS FOR ONE TIME REVIEW FOR STEP 1
* cleft palate: ."failure of fusion of LATERAL PALENTINE, NASAL SEPTUM
* Cleft lip: Failure of fusion of MAXILLARY, MEDIAL NASAL.
*Case of alcoholic pancreatic. Elevated AST. AST>ALT, ALT>AST in viral h.
* Oocyte arrested in prophage of meiosis 1 for years until ovulation.
* Case of infant of missing kidneys.oligohydramnios.
* Case of g!rl who has loss of eversion and lifting whole leg to walk: what nerve? A.. common peroneal
* Loss of sensation of lateral digitsA ..median n.
* Tumor compressing renal vein, what is result? A.. edema in lower leg, varicocele, esophageal varicies were the choices.
Blood supply to descending colon ..Inferior mesenteric artery.
* Case of man with bloody diarrhea, biopsy shows psuedopolyps.. ulcerative colitis.
*What participates in late wound repair.. collagen type 1.
A Gross photo of brain :. oligodendrocytes in CNS.
* Boy with DM type 1:..absence of B cells in pancreas.
* Section of lymph node, arrow at paracortex ..houses T cells. A Transection of Reticular Nucleus ..loss of consciousness.
* Gross photo ofbrainstem, where is : cranial nerve 5?
* Visual field defect of homonymous hemianopsia, where is the lesion? A .. East the optic chiasm.
* Knee jerk reflex arc.
* Where do the cerebral veins drain into : ..find on angiogram.
* Case of asthmatic given 02 and then P02 drops from 75% to 60%, C02 retention drops, what happened? I put diffusion problem. ~
* Gross pic of bone. find epipyseal plate.
* Histology of muscle fiber. Where does ATP and mysosin work?


* Graph of chemical synapse. Included receptors alpha and beta,
Dopamine, Acelyacholine, Norepi and Epinephrine. What drug would activate beta I receptor? -
* Case of woman going into res. Distress and dies, what happened? .. Pulmonary infarct.
* Case of sensitivity and specifity .
* One case of mode. A.. most appearing score. * One case of cohort study .A.. forward in time
* One case of clinical study A ..compares 2 or more treatments.
* Case of pt having psychotic symptoms, weight loss, agitation, dilated pupils, what drug abused? Amphetamine.
* Case of premature delivery .Parents do not want child. What do you do? Deliver and attempt resuscitation even if prognosis is bad.
* Pt tells medical student not to tell anyone about his homosexuality , what do you do? A.. make note in chart for treatment team.
* Deteriorating alcoholic pt told neighbor DNR if hospitalized, what do you do? Choice is not to or resuscitate. I chose to resuscitate.
* Case of grieving widow. Depression normal up to one year .
* Case of alcoholic..thiamine def, destruction of mamillary bodies. * What neurotransmitter does cocaine effect?
* Case of pessimistic, stressful, overly critical man most likely to developA.. MI or gastric ulcer? * Case of denial,
* Case of reaction formationA ..when an unwanted feeling is replaced with
itaTMs opposite. Man who doesndTMt want to exercise after MI says that hedTMII run
the marathon after doing nothing after MI.
* Case of 6 year old boy starting to wet bed after birth of younger
sister. Mom brings him to Dr. Dr. doesnd?TMt give meds but rather asks questions about problems in family and tells mom she should spend more time with boy. * Case of father bringing 10 year old boy to Dr. cuz hed?TMs worried hedTMs
a homo cuz his best friend is another boy A .natural process. * Case of denial.
* Cognitive changes in elderly.
* Case of yregnant woman having seizures and vomiting, hypertension, erotonuriaA.. eclampsia. -
* Case of virgin having symptoms of UTI, what is pathogen?A.. E. coli
* Case ofboy having bloody diarrhea after eating hamburger? A.. E. coli
* Case of hyperthyroid man with normal TSH, normal radioactive Iodine
uptake, normal thyroid size, whataTMs the problem?A.. exogenous dose of thyroid hormones.
* What does haloperidol act on? A ..dopamine receptors.
* Pic ofDNA replication, where is helicase? A.. at the fork unwinding. * Few cases of modes of inheritance.
* One Hardy-Weinberg population genetics problem.
* Case of pt taking anti-depressive eats cheese and wine having headacheA.. MOA inhibitors + tyramineA.. hypertensive crisis.
* Case of G6PD deficiency A.. decrease in NADPH leading to hemolytic anema. * Case ofMcArdled?TMs dis. What is deficient? Glycolosis or Gluconeogenisis?

.
A~ Case of PKU
A ~ Case of Alkaptonuria ..dark urine.
A~ Case of Lesch-Nyhan syndrome ..hyperurisemia, def. In HGPRT. ~
A ~ Case of elderly woman who doesn?t have marked osteoporosis, why? A .. elevated serum estrogens.
A ~ What does estrogen do to lipid profile? A.. increase HDL and decrease LDL. A ~ What is evident in lung section of fetus with
Respiratory Distress syndrome? A~. no surfactant, I chose amniotic fluid. ~
A ~ Case of megalobalstic anemia without peripheral neuropathies A.. folate def.
A ~ Case of cytic fibrosis with infection A.. Pseudomonas aeruginosa.
A ~ What causes goosebumps? A ..pic of hair follicle. Look for erector pili muscle.
A ~ What organism survived boiling? A ..Bacillus sp. Spore former. A ~ Case of child with hematuria after sore throat, what titer
is elevated? A ..ASO
A ~ What can cause shock? A ..endotoxin A~ Staph is CATALASE +
A ~ Case of cellulitis, cocci in chainsA ..strep
A ~ Case of enteritis after eating Mexican cheese, gram + coccobacillusA ..I chose staph.
A ~ What organism causes pneumonia and grows of charcoal media?A.. Legionella A ~ Infection in burn pt.A ..pseudomonas sp.
A ~ What can give most lasting treatment for ulcerA.. antimicrobials.
A ~ Case of woman in camping trip having sex with friend now having sore wrists and ankles with multiple lesions on trunk and
arms, aspirate of fluid show spirochetesA ..Iymes dis.
A ~ Case of meningitis in AillS pt.A ..cryptococcus sp.
A ~ Alpha I antitrypsin def., What causes destruction of lung? A ..unopposed action of elastase.
A ~ Most effective vaccineA ..live attenuated? A ~ Case ofDiGeorge synd.
A ~ One problem of Complemation-Fixation test-
A ~ Case of asthmatic taking drug to improve FEVIA.. broncholilator.
A ~ Case ofDown Synd.A.. meiotic DISJUNCTION ofHOMOLOGOUS chromosomes. A ~ Case of DuchennedTMs Ms
Dystorphy A ..defect in dystrophin gene which results in hypertrophy in calf muscle, replaces with fat. Dx with biopsy. A ~
Case of Marfand?TMs Synd. A.. autosomal dominant A ~ ACE inhibitors cause renal damage.
A ~ Case of elevated alpha feto-protein in 16 week of pregnancy. Maybe eossible overestimation of fetal age.
A ~ STAGE has more prognostic value than grade.
A ~ Case of man having back pain and difficulty in urination A ..prostatic adenocarcinoma -metastisis.
A ~ Case of man with diff in urination, enlarged prostate but normal psAA .. chronic prostititis?
A ~ M spike on electrophoeresis A ..multiple myeloma A ~ Case of mega colonA ..HursprungdTMs dis
A ~ Pt with resting tremor A. .substantia nigra. ParkinsondTMs A~ Temporal arteritis can lead to A.. blindness.
,-
* Case of girl getting sick after drinking alcohol, what drug is she
(on?A.. metronidozole, disalfuram like effect.
* Griseofulvin.A.. interferes with microtubual function, distrupts mitosis.
Mechanism of action of Acyclovir ,
* DOC for CMV A ..ganciclovir, F oscarnet is gancyclovir fails.
* Case of pt taking nasal decongestant, what receptor is activated? A .. alpha 1.
* Side effects ofLithiumA.. hypothyroidism and nephrogenic Dl. ,
* ACE inhibitors will INCREASE renin due to reflex inhibition.
* Man with high lipids and hypertension having muscle pains and
myalgias, which drugs are causing symptoms? A.. lovastatin and loop diuretic. * Acetazlamide will causeA.. metabolic acidosis.
* Pt on warfarin has infarct, what other drug is he taking? A .. ehenobarbitol, induces P450 systep.
* Case of gout what drugs to useA.. colchicine not answer, probenecid was
~ choice. -,
* Mech. Of action of AllopurinolA.. inhibits xanthine oxidase. * Side effect ofPTUA.. agranulocytosis.
* One half life problem. J * Pt has anemia after taking anti malarial drug, what dei Does pt have?A.. G6PD dei
* One case with cardiac cycle.
* Case of new born with bleedingA..def. Vit K.
* Case of child with Necator americanus infection and anemia why? A.. dei of iron.
* Case ofD. latum infection and anemia why?A.. BI2 dei that leads to megalogblastic anemia.
Which landmark distinguishes indirect from direct hernias? A.. inferior eyigastric artery .-
* Woman on menopause, which is hypofunctioning? A ..ovary
* Case of person with infections of Candidiasis, what is the defect? A.. cellular immunity .
* Case of loss of sensation of face, what nerve is affected? A ..Maxillary branch ofCN V.
* Cystic fibrosis pt with malabsorption, what will you see on biopsy of eancreas? A ..Atrophy
* Pt taking pills develops acute hepatic reaction based on enzyme levels, AST>AL T, what did she take? A.. acetaminophen.
* Case of hypothyroidism, high TSH, low thyroid levelsA.. Hashimotod?TMs * Case of what happens to liver after ethanol ingestion.A.. fatty change. * Case of Diptheria toxin.A ..inhibition of elongation factor .
* Case of hypertensive having orthostatic hypotension, what drug? A .. Prazosin.A.. alpha I antogonist.
* Where does anti-cancer effect of Vincristine and Vinblastine work? DNA or RNA ?
* Case of hypertensive develops Lupus-Like symptoms, what drug is she taking?A.. Hydralazine. Other drugs include: procainamided?:. *

.maple syrup urine disease- 2 questions 2.cherry-red spot- enzyme deficiency 3. ct of the thorax- identification of mediastinal
structures
4. gross brain specimens- LOTS ofthem- sections at different levels
5. brachial plexus questions- muscular deficit
given- identify lesion on a diagram of the plexus 6. drug induced sle
7. prostatic c* loads of questions. 8. Iyme disease
9. vibrio parahaemolyticus 10. parkinsons disease
11. chest x ray- showing aspirated object-
identify which lobe of lung it has lodged in
12. genetics- transposons 13. CT of abdomen-at the level of pancreas
14. VITAMIN D/ calcium/ phosphate metabolism- NUMBER of questions- rickets 15.mediastinal anatomy- 16.stroke localization
17. ethics questions- regarding elderly patient
with dementi* and who would make the decision about whether or not to continue icu care-
18. atrophic gastritis
19. vitamin b12 def 20. thiamine def in alcoholics 21. syringomyelia
22. hardy-weinberg calculations 23.alcohol metabolism 24. drugs for osteoporosis
25. HRT
26. GBS-guillian barre syndrome
27. cimetidine effect on p450 and drug metabolism
28. sensitivity/specificity calculation
29. study design identification- clinical trial and case control is what i remember
30. pulmonary embolism- 2 questions 31. duchennes muscular dystrophy
32. autism
33. affect ofp53 deletion
34. benzodiazepines- 3-4 ques on mechanism of action/metabolism/changes in dosage for elderly
35. PCO- history given- had to know gross
36. sensitivity and odds ratio
37.marfans syndrome
38.menl and men2 syndrome 2 questions

[ArchivalUser]

bump

[ArchivalUser]

GENETICS HIGH YEILD

1-AR inheritancecystic fibrosis.xeroderma pigmentosumTay-sachs.sickle cell anemia.PKU(phenyl ketonuria)hemochromatosis.many enzyme def

2-AR.Homozygote25%.. heterozygotes50%

2-Tay-sachs.ashkenazi jews.hexosaminidase def.ARhomozygote25%

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 whitespancreatic insufficiency.(85%)deletion of ..phenylalanineat position..508..responsible for protein folding..

5-CFsterility in male 95%.....inf staph..pseudomonascause of death.= pulmonary disease..abnormal chloride channel protein(CFTR) gene

5-X-linked dominantfemaleskipped generation is unusual

6-X-linked recessivemale.male are hemizygousfemale 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 recessivehemophilia A.Duchenne.muscular dystrophy

10-X-linked recessiveif mother is carrieran affected male chance is 25%

11-X-linked recessiveif mother carrier and affected fatheraffected child is 50%

12-X chromosome inactivation.. is DNA seen as barr body in interphaserandomfixed(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 VIIIsever disease..because it makes truncated mutation

17-Duchenne muscular dystrophy..gene dystrophindeath..cardirespiratory failure..frame shift mutation..X-linked

18-X-linked dominantif 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..hypogonadismobesity..deletion on long arm ch.15 transmitted by father

25-Angelman synd.mental retardseizures ataxia.. deletion ch.15.. mother

26-Imprinting is based on ..methlation of DNA

27-Down™s synd..trisomy 21.AML is seen with ..newborns.ALLin older children

28-Mutation in ACTH receptorcortisolandrogenACTH 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-GFRM = ACTH

32-Variable expressiondifferent degree of phenotypes or faces of diseaselike 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 Heteroplastydifferent mutations ..in same locus .



35- Allelic Heteroplasty.like mis-sense and ..nonsense ..mutation in factor VIII gene

36-Mitochondrial ..inheritance.sperm cell has no mitochondriaso it comes from mother..both male and female are affected

37-Mitochondrial inheritanceleber hereritary optic neuropathyoptic nerve damage

38-Mtochondriadisorder.offen expresses as neuropathies and myopathies

39-Brain and muscle are highly dependent on oxidative phosphorylation

40-MELAS.mitochondrial encephalomyopathylactic acidosis.stroke like

41-Myocolonic epilepsy.with .ragged red muscle fibers

42-Mitochondria.Leber..MELAS.Myoclonic epilepsy

43-X-linkedincidence and gene frequency are the same

44-Duchenne.X-linked.if incidence is,,,1/3000then gene frequency is the same 1/3000

45-..p + q = 1..p = dominant allel q = recessive allel heterozygote carrier = 2q

46-Natural selectionAfrican-American population with sickle cell anemia

47-Natural selection..cystic fibrosis.resistant to typhoid fever

48-Natural selectionHemochromatosis.in ..iron poor environment

49-Genetic drift.rapid change in gene frequencies in small population

50-Genetic drift..Ellis van creveld diseaseshort stature.polydactylyheart disease

51-Gene flowexchange 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 18rocker-bottom feet

56-Patu synd ..trisomy 13..polydacylycleft lip and palate.renal defect

57-Patu..Edward..die before age 2 y

58-Variable expressionxeroderma pigmentosum..hempophila Aneurofibromatosis type 1

59-Incomplete penetrancein some people disease can not be seenthey are Obligate carrier but their father or mother are affected

60-Incomplete penetrancehereditary hemochromatosisfamilial breast cancerretinoblastoma

61-Delayed aged of onset..huntingtonfamilial breast cancer.familial colon cancer..
Hemochromatosis.adult polycystic disease

62-Pleiotropy..single disease affects ..multiple organsMarfan

63-Locus heterogeneity..same diseasebut different loci..ostegenesis imperfecta. Some on...ch.7 andsome on .ch.17

64-New mutation.acondroplasia(80% new mutation)neurofibromatosis type1 (50% new mutation)

65-Anticipationtrinuclotide repeatmytonic dystrophyfragile X synd Huntington

66-Anticipationrecent generations have greater severity or earlier age(younger)

67-Barr bodycan 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 syndLONG arm of X chromosome elongationLONG..ears(large)LONGtestes(marcro-orchidism)LONG range of joint motion(hypermobile joint)

71-Fragile X synd..CGG repeat..in the 5™ untranslated region of FMR1 gene

[ArchivalUser]

genetics hy is great i really need to do it before the exam...!!!!
thanx again rizowana