Website
16 May 2019
13
|
EMQ. Hepatitis B
|
14
|
EMQ. G6PDD & G6PD
|
15
|
EMQ. Kell antibodies
|
16
|
EMQ.
Fragile X syndrome
|
17
|
Viva. Mayer-Rokitansky-Küster-Hauser syndrome
|
13. Hepatitis
B and pregnancy.
Lead-in.
These
scenarios relate to hepatitis and pregnancy.
Instructions.
For each
scenario, select the most appropriate option from the option list.
Each option
can be used once, more than once or not at all.
Abbreviations.
HAV: hepatitis
A virus
HBcAg: hepatitis
B core antigen
HBeAg: hepatitis
B e antigen
HBsAg: hepatitis
B surface antigen
HBcAb: antibody
to hepatitis B core antigen
HBeAb: antibody
to hepatitis B e antigen
HBsAb: antibody
to hepatitis B surface antigen
HBIG: hepatitis
B immunoglobulin
HBV: hepatitis
B virus
HBcAg: hepatitis
B core antigen
HBeAg: hepatitis
B e antigen
HBsAg: hepatitis
B surface antigen
HBcAb: antibody
to hepatitis B core antigen
HBeAb: antibody
to hepatitis B e antigen
HBsAb: antibody
to hepatitis B surface antigen
HBIG: hepatitis
B immunoglobulin
HCV: hepatitis
C virus
HEV: hepatitis
E virus
HSV: herpes
simplex virus
VT: vertical
transmission
Option list.
A.
|
acyclovir
|
B.
|
divorce
|
C.
|
HBcAg +ve
|
D.
|
HBeAg +ve
|
E.
|
HbsAg +ve
|
F.
|
HBsAg +ve;
HBsAb –ve; HBcAb –ve; HBeAg +ve
|
G.
|
HBsAg +ve;
HBsAb –ve on two tests six months apart
|
H.
|
HBsAg -ve;
HBsAb -ve on two tests six months apart
|
I.
|
HBsAg -ve;
HBsAb +ve; HBcAb –ve
|
J.
|
HBsAg -ve;
HBsAb +ve; HBcAb +ve
|
K.
|
HBsAg -ve;
HBsAb +ve
|
L.
|
HBsAg +ve;
HBcAg +ve
|
M.
|
HBV vaccine
|
N.
|
HBIG
|
O.
|
HBV vaccine
+ HBIG
|
P.
|
immune as a result
of infection
|
Q.
|
immune as a
result of vaccination
|
R.
|
not immune
|
S.
|
chronic
carrier of HBV infection
|
T.
|
10%
|
U.
|
30%
|
V.
|
50%
|
W.
|
60%
|
X.
|
70-90%
|
Y.
|
soap and
boiling water
|
Z.
|
10% dilution
of bleach in water
|
AA.
|
10% dilution
of formaldehyde in alcohol
|
BB.
|
ultraviolet
irradiation
|
CC.
|
yes
|
DD.
|
no
|
EE.
|
HAV
|
FF.
|
HBV
|
GG.
|
HCV
|
HH.
|
HEV
|
II.
|
HSV
|
JJ.
|
none of the
above
|
Scenario 1.
An
asymptomatic primigravida books at 10 weeks. Her partner had an acute HBV
infection 4 months ago. What results on routine blood testing would indicate
that she has an acute HBV infection?
Scenario 2.
An
asymptomatic primigravida books at 10 weeks. Her partner had an acute HBV
infection 4 months ago. What results on routine blood testing would indicate
that she is immune to the HBV as a result of infection?
Scenario 3.
An
asymptomatic primigravida books at 10 weeks. Her partner had an acute HBV
infection 4 months ago. What results on routine blood testing would indicate
that she is immune to the HBV as a result of HBV vaccine?
Scenario 4.
An
asymptomatic primigravida books at 10 weeks. Her partner had an acute HBV
infection 9 months ago. What results on routine blood testing would show that
she is a chronic carrier of HBV infection?
Scenario 5.
Testing shows
that he is positive for HBsAg, positive for HBcAb but negative for IgM HBcAb.
What does this mean in relation to his HBV status?
Scenario 6.
Testing shows
that he is negative for HBsAg, positive for HBcAb and positive for HBsAb.
What does this
mean in relation to his HBV status?
Scenario 7.
How
common is chronic HBV carrier status in UK pregnant women?
Scenario 8.
What
is the risk of death from chronic HBV carrier status?
Scenario 9.
A
primigravid woman at 8 weeks gestation is found to be non-immune to HBV. She
has recently married and her husband is a chronic carrier. What should be done
to protect her from infection?
Scenario 10.
A
woman is a known carrier of HBV. What is the risk of vertical transmission in
the first trimester?
Scenario 11.
What
is the risk of the neonate who has been infected by vertical transmission
becoming a carrier without treatment?
Scenario 12.
Should
antiviral maternal therapy in the 3rd. trimester be considered for
women with HBeAg or high viral load?
Scenario 13.
How
effective is hepatitis B prophylaxis for the neonate in preventing chronic
carrier status as a result of vertical transmission?
Scenario 14.
Can
a woman who is a chronic HBV carrier breastfeed safely?
Scenario 15.
Hepatitis B
infection is the most dangerous of the viral hepatitis infections in pregnancy.
Scenario 16.
A
pregnant woman who is not immune to HBV has a partner who is a chronic carrier.
Can HBV vaccine be administered safely in pregnancy?
Scenario 17.
A
pregnant woman who is not immune has a partner with acute hepatitis due to HBV.
He cuts his hand and bleeds onto the kitchen table. How should she clean the
surface to ensure that she gets rid of the virus?
Scenario 18.
Is it true
that the presence of HBeAg in maternal blood is a particular risk factor for
vertical transmission? Not really a scenario, but never mind!
Scenario 19.
Does
elective Cs before labour and with the membranes intact reduce the vertical
transmission rate?
Scenario 20.
Which
hepatitis virus normally produces a mild illness, but represents a major risk
to pregnant women, with a mortality rate of up to 5%?
Scenario 21.
A
pregnant woman has a history of viral hepatitis and informs the midwife at
booking that she is a carrier and that she has a significant risk of cirrhosis
and has been advised not to drink alcohol. Which is the most likely hepatitis
virus?
Scenario 22.
Which
hepatitis virus is an absolute contraindication to breastfeeding after
appropriate treatment of the infected mother and prophylaxis for the baby?
Scenario 23.
Which
hepatitis virus is linked to an increased risk of obstetric cholestasis?
14. Glucose-6-phosphate
dehydrogenase deficiency.
Abbreviations.
G6PD: glucose-6-phosphatase
deficiency
G6PDD: glucose-6-phosphate
dehydrogenase deficiency
Scenario
1.
What is G6PDD? There is no
option list.
Scenario
2.
What categories are applied to
G6PDD by the WHO? There is no option list.
Scenario
3.
What other names are commonly
used for G6PDD? There is no option list.
Scenario
4.
Which, if any, of the following
statements are true in relation to G6PDD?
Option list.
A
|
it is the most common enzyme
defect in humans
|
B
|
it is the most common
RBC enzyme defect in humans
|
C
|
it is the most common
cause of neonatal jaundice
|
D
|
it is the most common
cause of sickling crises
|
E
|
is a glycogen storage
disorder
|
F
|
most of those with G6PDD
have chronic anaemia
|
Scenario
5.
Approximately how many people
are affected by G6PDD worldwide?
Option list.
A
|
1,000 million
|
B
|
800 million
|
C
|
600 million
|
D
|
400 million
|
E
|
100 million
|
F
|
50 million
|
G
|
20 million
|
H
|
10 million
|
I
|
none of the above
|
Scenario
6.
Which population has the
highest prevalence of G6PDD?
Option list.
A
|
American Amish
|
B
|
Asians
|
C
|
Ashkenazi Jews
|
D
|
Eskimos
|
E
|
Irish Travellers
|
F
|
Kurdistan Jews
|
G
|
Sub-Saharan Africans
|
H
|
Turks
|
I
|
Uzbekistan albinos
|
J
|
None of the above
|
Which, if any, of the following is the mode of inheritance
of G6PDD?
Option list.
A
|
autosomal dominant
|
B
|
autosomal recessive
|
C
|
mitochondrial pattern
|
D
|
X-linked dominant
|
E
|
X-linked recessive
|
F
|
Y-linked
|
Scenario 8.
Approximately how many mutations of the G6PDD gene have
been identified? There is no option list.
Scenario 9.
Which, if any, of the following is the mode of inheritance
of G6PD?
Option list.
A
|
autosomal dominant
|
B
|
autosomal recessive
|
C
|
mitochondrial pattern
|
D
|
X-linked dominant
|
E
|
X-linked recessive
|
F
|
Y-linked
|
Scenario
10.
Which foodstuff can trigger
haemolysis in G6PDD and gives us one of the alternative names for the
condition? What is the common name for the foodstuff? Which pest particularly
attacks it? There is no option list.
Scenario
11.
Which, if any, of the following
drugs may cause haemolysis in those with G6PDD?
Option list.
A
|
aspirin
|
B
|
diphenhydramine
|
C
|
nalidixic acid
|
D
|
nitrofurantoin
|
E
|
paracetamol
|
F
|
phenytoin
|
G
|
sulphamethoxazole
|
H
|
trimethoprim
|
15. EMQ. Kell antibodies.
Kell antibodies
& pregnancy.
Abbreviations.
∆OD450: spectrophotometric
measurement of deviation in optical density at wavelength 450 nm.
FMM: feto-maternal medicine
HDFN: haemolytic disease of
the fetus and newborn.
MCAPSV: middle cerebral artery
peak systolic velocity.
RBC: red blood cell.
Scenario 12.
Which, if any, of the following alloantibodies is the most common cause
of HDFN?
Option list.
A
|
anti-D
|
B
|
anti-C
|
C
|
anti-c
|
D
|
anti-e
|
E
|
Duffy: Fya
|
F
|
Duffy: Fyb
|
G
|
Kell
|
H
|
Kidd: Jka
|
I
|
Kidd: Jkb
|
Scenario 13.
Which, if any, of the following alloantibodies is the 2nd. most
common cause of HDFN?
Option list. Use the option
list from Scenario 1.
Scenario 14.
Which, if any, of the following alloantibodies is the 3rd. most
common cause of HDFN?
Option list. Use the option
list from Scenario 1.
Scenario 15.
Which of the following statements is true in relation to the Kell
antigen?
Option list.
A
|
it is named after Mrs. Kelleher who was found to have antibodies to it
in 1946
|
B
|
it is named after Gene Kelly, the American actor, dancer and singer as
the research group who found the antigen were big fans
|
C
|
there are > 50 significant variants of the Kell antigen
|
D
|
Kell antibodies are mainly IgA
|
E
|
Kell antibodies are mainly IgM
|
F
|
none of the above
|
Scenario 16.
What proportion of the Caucasian population is K +ve?
Option list.
A
|
1%
|
B
|
5%
|
C
|
9%
|
D
|
15%
|
E
|
25%
|
F
|
33%
|
G
|
57%
|
H
|
none of the above
|
Scenario 17.
The Kell antigen can be detected using cell-free fetal DNA in maternal
serum. True / False.
Scenario 18.
Anti-K is thought to occur mainly as a result of feto-maternal transfusion
of Kell +ve cells during pregnancy and delivery. True / False.
Scenario 19.
Kell HDFN resulting from transfusion of Kell +ve blood is thought to produce more severe HDFN
than that resulting from feto-maternal transfusion. True / False.
Scenario 20.
The Kell antigen can be detected using cell-free fetal DNA in maternal
serum. True / False.
Scenario 21.
Which of the following statements is true in relation to anti-Kell
antibodies in a Kell-negative mother with a Kell +ve pregnancy?
Option list.
A
|
HDND is mainly due to haemolysis of fetal RBC
|
B
|
HDND is mainly due to haemolysis of fetal & neonatal RBC
|
C
|
HDND is mainly due to haemolysis of neonatal RBC
|
D
|
HDND is mainly due to sequestration of fetal RBC
|
E
|
HDND is mainly due to sequestration of fetal & neonatal RBC
|
F
|
HDND is mainly due to sequestration of neonatal RBC
|
G
|
HDND is mainly due to suppression of fetal erythroid progenitor cells
|
H
|
HDND is mainly due to suppression of neonatal erythroid progenitor
cells
|
I
|
none of the above
|
Scenario 22.
Which of the following statements is true in relation to antenatal
detection of HDFN due to anti-K antibodies?
Option list.
A
|
the threshold for significant HDFN is a titre of 1 in 4
|
B
|
the threshold for significant HDFN is a titre of 1 in 8
|
C
|
the threshold for significant HDFN is a titre of 1 in 16
|
D
|
the threshold for significant HDFN is a titre of 1 in 32
|
E
|
the threshold for significant HDFN is a titre of 1 in 64
|
F
|
the threshold for significant HDFN is a titre of 1 in 128
|
G
|
the threshold for significant HDFN is a titre of 1 in 256
|
H
|
none of the above
|
Scenario 23.
Which of the following statements is true in relation to antenatal
detection of HDFN due to anti-K antibodies?
Option list.
A
|
the threshold for significant HDFN is a level > 2 iu/L.
|
B
|
the threshold for significant HDFN is a level > 4 iu/L.
|
C
|
the threshold for significant HDFN is a level > 7.5 iu/L.
|
D
|
the threshold for significant HDFN is a level > 10 iu/L.
|
E
|
the threshold for significant HDFN is a level > 15 iu/L.
|
F
|
the threshold for significant HDFN is a level > 25 iu/L.
|
G
|
the threshold for significant HDFN is any level if anti-E is also
present.
|
H
|
none of the above
|
Scenario 24.
Which, if any, of the following statements are true in relation to referral
to a FMM expert when Kell antibodies are detected?
Option list.
A
|
the threshold for referral is a level of anti-K > 2 iu/L.
|
B
|
the threshold for referral is a level of anti-K > 4 iu/L.
|
C
|
the threshold for referral is a level of anti-K > 7.5 iu/L.
|
D
|
the threshold for referral is a level of anti-K > 10 iu/L.
|
E
|
the threshold for referral is a level of anti-K > 15 iu/L.
|
F
|
the threshold for referral is a level of anti-K > 25 iu/L.
|
G
|
the threshold for referral is any level of anti-K.
|
H
|
the threshold for referral is any level of anti-K if anti-E is also
present.
|
I
|
none of the above
|
Scenario 25.
Which of the following statements is true in relation to the threshold
for antenatal diagnosis of significant HDFN due to anti-K when using
measurement of MCAPSV?
Option list.
A
|
MoM > 1.25
|
B
|
MoM > 1.50
|
C
|
MoM > 1.75
|
D
|
MoM > 2.00
|
E
|
MoM > 2.50
|
F
|
MoM > 3.00
|
G
|
none of the above
|
Scenario 26.
Which of the following statements is true in relation to the threshold
for antenatal diagnosis of significant HDFN due to anti-K when using
measurement of ∆OD450?
Option list.
A
|
MoM > 1.25
|
B
|
MoM > 1.50
|
C
|
MoM > 1.75
|
D
|
MoM > 2.00
|
E
|
MoM > 2.50
|
F
|
MoM > 3.00
|
G
|
none of the above
|
Scenario 27.
Which, if any, of the following statements are true in relation to the
numbers of reticulocytes in cord blood in moderate to severe HDFN?
Option list.
A
|
the numbers are decreased
|
B
|
the numbers are increased
|
C
|
the numbers are normal
|
D
|
none of the above
|
Scenario 28.
Which, if any, of the following statements are true in relation to the
numbers of erythroblasts in cord blood in moderate to severe HDFN?
Option list.
A
|
the numbers are decreased
|
B
|
the numbers are increased
|
C
|
the numbers are normal
|
D
|
none of the above
|
Scenario 29.
Which, if any, of the following statements are true in relation to the level
of bilirubin in cord blood in moderate to severe HDFN?
Option list.
A
|
the numbers are decreased
|
B
|
the numbers are increased
|
C
|
the numbers are normal
|
D
|
none of the above
|
Scenario 30.
Which, if any, of the following statements are true in relation to King Henry
VIII and Kell?
Option list.
A
|
Kell may have been the cause of his subfertility
|
B
|
He may have had the McLeod syndrome
|
C
|
He may have inherited the Kell antigen from Jacquetta Woodville
|
D
|
The Kell antigen may have explained his passion for jousting
|
E
|
The Kell antigen may have explained his passion for extramarital
dalliance
|
The TOG questions
for the Gajjar article can be found here.
Send your answers
and I’ll send mine.
16. Fragile X syndrome
Abbreviations.
FXS: Fragile X syndrome
Lead-in
Which, if any, of the following are
features of FXS in males?
Option List
A
|
autism
|
B
|
epilepsy
|
C
|
hyper-extensible joints
|
D
|
learning difficulty
|
E
|
post-pubertal macroorchidism
|
Question 2.
Lead-in
Which of
the following is the gene related to FXS?
Option List
A
|
Familial
mental resources gene
|
B
|
Familial mental
retardation gene 1
|
C
|
Fragile
mental resources gene
|
D
|
Fragile mental
regulation gene
|
E
|
Frothing mouth &
roaring gene
|
Question 3.
Lead-in
Which, if
any, of the following are features of FXS in females?
Option List
A
|
autism
|
B
|
epilepsy
|
C
|
hyper-extensible joints
|
D
|
learning
difficulty
|
E
|
post-pubertal ovarian
enlargement
|
Question 4.
Lead-in
Why are
women thought to be less affected by FXS than men?
Option List
A
|
two X chromosomes
dilute the effect of affected X chromosome
|
B
|
leonisation
|
C
|
lionisation
|
D
|
lyonisation
|
E
|
none of the above
|
Question 5.
Lead-in
How common
is FXS in males?
Option List
A
|
1 in
1,000
|
B
|
1 in 4,000
|
C
|
1 in 8,000
|
D
|
1 in 20,000
|
E
|
1 in 100.000
|
Question 6.
Lead-in
How common
is FXS in females?
Option List
A
|
1 in
1,000
|
B
|
1 in 4,000
|
C
|
1 in 8,000
|
D
|
1 in 20,000
|
E
|
1 in 100.000
|
Question 7.
Lead-in
Which gene
is implicated in the causation of FXS?
Option List
A
|
fragile
X mental retardation 1
|
B
|
fragile X mitochondrial
recognition 1
|
C
|
fragile X 1
|
D
|
the gene has not yet
been identified
|
E
|
none of the above
|
Question 8.
Lead-in
Which is
the leading hereditary cause of learning difficulty?
Option List
A
|
Down’s
syndrome
|
B
|
fragile X syndrome
|
C
|
galactosaemia
|
D
|
homocystinuria
|
E
|
phenylketonuria
|
Question 9.
Lead-in
Which is
the most common genetic cause of autism?
Option List
A
|
Down’s
syndrome
|
B
|
fragile X syndrome
|
C
|
galactosaemia
|
D
|
homocystinuria
|
E
|
phenylketonuria
|
Question 10.
Lead-in
Which mode
of inheritance occurs with FXS?
Option List
A
|
autosomal
dominant
|
B
|
autosomal recessive
|
C
|
X-linked dominant
|
D
|
X-linked recessive
|
E
|
none of the above
|
Question 11.
Lead-in
What is
the prevalence of seizures in men with FXS?
Option list.
A
|
5%
|
B
|
10%
|
C
|
15%
|
D
|
30%
|
E
|
40%
|
Question 12.
Lead-in
What is
the prevalence of seizures in women with FXS?
Option list.
A
|
5%
|
B
|
10%
|
C
|
15%
|
D
|
30%
|
E
|
40%
|
Question 13.
Lead-in
What is
the story about trinucleotide repeats and FXS. What are TRs? Which TRs are
involved with FXS? How are TRs categorised in relation to FXS?
There is no option list – just write your answers.
Lead-in
What is the FX premutation? What are
its key features?
There is no option
list – just write your answers.
Question 15.
Lead-in
A woman
has the FX premutation. What is the risk of a daughter inheriting it?
Option list.
A
|
1:1
|
B
|
1:2
|
C
|
1:3
|
D
|
1:4
|
E
|
none of
the above
|
Question 16.
Lead-in
A woman
has the FX premutation. What is the risk of a son inheriting it?
Option list.
A
|
1:1
|
B
|
1:2
|
C
|
1:3
|
D
|
1:4
|
E
|
none of
the above
|
Question 17.
Lead-in
A man has
the FX premutation. What is the risk of a daughter inheriting it?
Option list.
A
|
1:1
|
B
|
1:2
|
C
|
1:3
|
D
|
1:4
|
E
|
none of
the above
|
Question 18.
Lead-in
A man has
the FX premutation. What is the risk of a son inheriting it?
Option list.
A
|
1:1
|
B
|
1:2
|
C
|
1:3
|
D
|
1:4
|
E
|
none of
the above
|
Question 19.
Lead-in
Under what
circumstances can expansion of the premutation to the full mutation take place?
Option list.
A
|
only
when passed on by the father
|
B
|
only
when passed on by the mother
|
C
|
only in
temperate climates
|
D
|
only in
tropical climates
|
E
|
none of
the above
|
Question 20.
Lead-in
Which of
the following is true in relation of expansion of the premutation to the full
mutation?
Option list.
A
|
expansion
does not occur with fewer than 300 triplet repeats
|
B
|
expansion
does not occur with fewer than 400 triplet repeats
|
C
|
expansion
does not occur with fewer than 500 triplet repeats
|
D
|
expansion
does not occur with fewer than 1,000 triplet repeats
|
E
|
none of
the above
|
Question 21.
Lead-in
Which of the
following is true?
Option list.
A
|
women
are more likely to have the FX premutation than men
|
B
|
women
are more likely to have the FX premutation than men
|
C
|
women
are more likely to have the FX premutation than men
|
D
|
the
relative prevalence of the FX premutation by gender is unknown
|
Question 22.
Lead-in
What is
the approximate prevalence of the FX premutation in the female general
population?
Option list.
A
|
1 in 100
|
B
|
1 in 200
|
C
|
1 in 500
|
D
|
1 in
1,000
|
E
|
1 in
2,000
|
Question 23.
Lead-in
Which of
the following conditions is more common in women who are carriers of the FX
premutation?
Option list.
A
|
atypical
endometrial hyperplasia
|
B
|
diabetes
type I
|
C
|
diabetes
type II
|
D
|
Parkinsonism
|
E
|
premature
ovarian insufficiency
|
Question 24.
Lead-in
A woman is
a known carrier of the FX premutation. What is the approximate risk of her
developing the condition in the previous question?
Option list.
A
|
5%
|
B
|
10%
|
C
|
15%
|
D
|
25%
|
E
|
40%
|
Question 25.
Lead-in
A woman
has the condition mentioned in the two previous questions. What is approximate
risk of her being a carrier of the FX premutation?
Option list.
A
|
3%
|
B
|
12%
|
C
|
18%
|
D
|
25%
|
E
|
30%
|
Question 26.
Lead-in
What is
the approximate prevalence of the FX premutation in the male general
population? Pick the closest answer from the option list.
Option list.
A
|
1 in 100
|
B
|
1 in 200
|
C
|
1 in 500
|
D
|
1 in
1,000
|
E
|
1 in
2,000
|
Question 27.
Lead-in
A woman
has the condition mentioned in the two previous questions. What is approximate
risk of her being a carrier of the FX premutation?
Option list.
A
|
3%
|
B
|
12%
|
C
|
18%
|
D
|
25%
|
E
|
30%
|
Question 28.
Lead in.
Match the condition with the best option from the option
list. Each option can be used once, more than once or not at all.
Option list.
|
Repeat
|
A
|
CAG
|
B
|
CCTG
|
C
|
CGG
|
D
|
CTG
|
E
|
GAA
|
List of conditions.
Condition
|
Best match from Option list.
|
Friedreich ataxia
|
|
Fragile X syndrome
|
|
Huntington disease
|
|
Myotonic dystrophy Type
1
|
|
Myotonic dystrophy Type 2
|
|
Spinocerebellar ataxia
Type B
|
|
17. Viva. Mayer-Rokitansky-Küster-Hauser
syndrome.
The examiner will ask you a series of questions.
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