Thursday 16 May 2019

Tutorial 16th. May 2019


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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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