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I am also weak in Beh. & Genteics - drfuture
#51
i finally learnt how to use p value and CI in the question stemmm

i m so happy
no can anyone help me with
if we inc the sensitivity how do we dec the PPV
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#52
@dowtie what do u mean? can u share the concept u have learnt please?

increasing sensitivity means decrease in FN

and it also means that we are decreasing the threshold for positive diagnosis and in this way we are increasing the the FP risk so we are increasing the denominator of the PPV which is TP/TP+FP so we are decreasing the PPV of the test
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#53
SOME NOTES FROM GOLJAN:

decreasing the upper limit value of diagnosing a disease will result in:

lesser chance of missing truly diseased people( ie. higher chance of picking up truly diseased people) ie. TP rate increase which is equal to sensitivity so sensitivity increases.

and when we get a negative reslut it is very likely to be negative because of this lowering of diagnostic threshold rather than a FN so inc. TN and dec. FN which means inc.. in negative NPV

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#54
http://ocw.tufts.edu/Content/20/lecturen...medium.jpg

This is called:

a.Triosomy
b.Aneuploidy
c. Tetraploidy
d. Triploidy
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#55
Q11 a boy with down syndrome undegoes karyotyping and it shows 46 chromosomes not 47 chromosomes. what is the defect that have likely occured during gametogenesis?

a. meitotic non dysjunction
b. Robertsonian translocation
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#56
Q12 A 4-year-old boy presents to the physician’s office with coarse facies,
short stature, stiffening of the joints, and mental retardation. Both parents,
a 10-year-old sister, and an 8-year-old brother all appear unaffected. The
patient’s mother is pregnant. She had a brother who died at 15 years of age
with similar findings that seemed to worsen with age. She also has a
nephew (her sister’s son) who exhibits similar features. Based on the probable
mode of inheritance, the risk that her fetus is affected is

a. 100%
b. 67%
c. 50%
d. 25%
e. Virtually 0
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#57


Q11 NAswr is B




Q12 Answer d
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#58
Q 13 homocystenemia can be caused by:

a. Cystathionine synthase deff.
b. Pyridoxal phospahe deff.
c. B12 deff.
d. All the above
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#59
Q14. A woman with cystic fibrosis (219700) marries her first cousin.
What is the risk that their first child will have cystic fibrosis?
a. 1/2
b. 1/4
c. 1/8
d. 1/16
e. 1/32

VIP question
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#60
ANswer to 13 and 14


13. DD



14. Draw a perdigree i wuill take 30 seconds bt u will definetly get the answer
.
The genotype of the affected woman with cystic fibrosis is therefore best represented
as the two lowercase letters cc. Her parents are obligate carriers for
the disorder (genotypes Cc), and one of her grandparents must also be a
carrier (barring new mutations). Her first cousin then has a 1/4 chance of
being a carrier, since one of their common grandparents is a carrier, one
of his parents has a 1/2 chance of being a carrier, and he has a 1/2 chance of
inheriting the c allele from his parent. The affected woman can only transmit
c alleles to her fetus, while her cousin has 1/2 chance of transmitting his
c allele if it is present. Thus, the probability that the first child will have cystic
fibrosis is 1/4 (cousin is carrier) × 1/2 (cousin transmits c allele) = 1/8
(fetus has cc genotype).
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