drkjigs
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Topics: 28
Posts: 146
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Here are some of the questions I could rmember.. thought we can discuss the answers with explanations. More to follow later.
1).4 yr girl, 5/7 h/o fever, abdo pain, nausea, vomitting , diarrhoea. Skin has petechiae. Hepatospleenomegaly. Hb-8.7, plts 60,000. Bld smear-fragmented RBC. Whcih renal finding most likely?
a. Glomerular crescents
b.IgG GBM Ab
c.Membranoproliferative GN
d.Narrowing of capillary wall by fibrin deposition
e.Periglomerular grannuloma with giant cells
2) female neonate. Hypotonia. Pregnancy-polyhydraminous. Mom has lack of facial expression & muscle weakness. She did not have similiar probs as a child or infant. Which phenomenon explains this condidtion?
a.anticipation
b.delayed onset,
c.genetic heterogenity,
d. incomplete penetrance,
e. pleiotropy
3). In acute coronary spasm, within seconds mitochondria swelling & depletion of glycogen grannules. Which event caused this?
a.accumullation of FFA
b. Decrease ATP
c. Degradation of membrane phospholipids
d. Efflux of K
e. Influx of Na
4).42 female has dizziness & ringing in the ears 7 days after starting a drug. ?drug
a Acitaminophen
b asprin
c auranofin
d methotrexate
e prednisolone
5).In gout, excess production of uric acid is due to lack of reflex inhibition by ADP or GDP at which enzyme?
a. Adenine deaminase
b dihydrofolate reductase
c G6PD
d Nucleotide phosphorylase
e Phosphoribosylpyrophosphate synthetase
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| mash
Forum Fanatic
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1 glomerular crescents
2 anticipation
3 dec ATP
4 aspirin
5 phosphoribosyl pyrophosphate synthase
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| drkjigs
Forum Senior
Topics: 28
Posts: 146
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why crescents for que 1?
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| Idiopathic
Forum Guru
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I think it is (D), it looks like DIC or HUS to me. I suppose a possible outcome would be renal failure, which could looks like (A)
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| mash
Forum Fanatic
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Posts: 1,326
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sorry, it shud be D fr ques 1
hyaline fibrin microthrombi r the hallmark of HUS
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I hear and I forget. I see and I remember. I do and I understand.
--Confucius
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| sk
Forum Senior
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Thanks Drkjigs........
1.d...2.a.....3.b.......4.b....5.e....for the 5th question...
according to kap lecture notes.....AMP..IMP...GDP inhibit PRPP amidotransferase...the RLS.....or is it PRPP synthetase?
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| dr.shar
Forum Elite
Topics: 38
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2) female neonate. Hypotonia. Pregnancy-polyhydraminous. Mom has lack of facial expression & muscle weakness. She did not have similiar probs as a child or infant. Which phenomenon explains this condidtion?
a.anticipation
b.delayed onset,
c.genetic heterogenity,
d. incomplete penetrance,
e. pleiotropy
my ans is d, incomplete penetrance.
can you please explain why is anticipation.....
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| Idiopathic
Forum Guru
Topics: 19
Posts: 641
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It looks like myotonic dystrophy...mom was affected, but later in life, while the infant was affected very eary. We know myotonic dystrophy is a trinucleotide repeat disorder and therefore we know it is anticipation.
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| Tigershark
Forum Newbie
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Posts: 3
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In incomplete penetrance individuals will have the abnormal genotype but a normal phenotype, not varying degrees of expression.
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