|
31 |
Role-play. Fragile X syndrome |
|
32 |
Role-play. Teach general pre-pregnancy
counselling |
|
33 |
EMQ. Hepatitis D. Delta |
|
34 |
SBA. Fragile X syndrome |
|
35 |
EMQ. G6PDD & G6PD |
31. Candidate's Instructions.
You are about to see Mary White who has been booked with
her first pregnancy by the midwife in the antenatal clinic. All is well and she
has been given the usual advice and leaflets. The midwife has asked you to see
her as there is a family history of Fragile X syndrome.
Your task is to discuss Fragile X syndrome and the
implications for Mary, the pregnancy and her father.
32. Prepregnancy counselling.
Candidate’s instructions.
Use your own name. You are an SpR5 and a teaching afternoon is planned
for the midwives from the antenatal clinic and junior medical staff. Your
consultant recently met a patient who had booked at the clinic. It had been a
busy day and the only prepregnancy counselling she received was a booklet which
she was told to read. The patient has limited reading skills and the consultant
felt that a session on the importance of face-to-face prepregnancy counselling
was timely. You have been asked to conduct a teaching session. Maggie Murray,
one of the midwives, has volunteered to be a role-player so that you can
illustrate appropriate technique.
Your tasks are to explain the importance of prepregnancy counselling and
demonstrate appropriate technique, using Maggie both as a midwife attending the
teaching session and a patient booking in.
33. Hepatitis D. Hepatitis Delta.
Abbreviations:
HBcAg: hepatitis B core antigen
HBeAg: hepatitis B e antigen
HBsAg: hepatitis B surface antigen
HBsAb: antibody to hepatitis B surface antigen
HBV: hepatitis B virus
HCV: hepatitis C virus
HCsAg: hepatitis C surface antigen
HDVIgG HDV immunoglobulin G
HDVIgM HDV immunoglobulin M
HDV: hepatitis D virus; hepatitis delta
virus
HEV: hepatitis E virus
HEsAg: hepatitis E surface antigen
Question
1.
Which, if any,
of the following statements are true in relation to HVD? This is not a true EMQ
as there may be >1 correct answer.
Option list.
|
A |
HDV is a large DNA virus |
|
B |
HDV gains entry to human
cells via the HDV receptor |
|
C |
HDV gains entry to human
cells by donning a disguise and using the HBV receptor |
|
D |
HDV only flourishes when
there is HbsAb present |
|
E |
HDV only flourishes when
there is HbsAg present |
|
F |
Coinfection is when HDV
and another viral infection are present at the same time |
|
G |
Superinfection is when
HDV is present in abnormally high numbers |
|
H |
HDV infection is the
least serious of the viral hepatitides in relation to pregnancy |
|
I |
HDV treatment was
revolutionised by analysis of the benefits of drinking bleach as suggested by
Donald Trump |
|
J |
the WHO has recommended
that those who follow medical advice from Donald trump should be categorised
as ‘having the DTs’. |
|
K |
HDV needs the presence
of HBsAg to be a significant pathogen |
|
L |
HDV needs the presence
of HCsAg to be a significant pathogen |
|
M |
HDV needs the presence
of HEsAg to be a significant pathogen |
|
N |
pegylated interferon
alpha is highly effective as treatment |
|
O |
mother-to-child
transmission is mainly via the placenta |
|
P |
the infected neonate
should be given HDV vaccine |
34. Fragile X syndrome
Abbreviations.
FXS: Fragile X syndrome
FXTAS: Fragile X tremor ataxia syndrome
HFEA: Human Fertilisation and Embryology
Authority
PIGD: pre-implantation genetic diagnosis.
POF: premature ovarian failure (now
known as POI)
POI: premature ovarian insufficiency
TR: trinucleotide repeat
TTR: tetranucleotide repeat
Question 1.
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.
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 3.
Why are women thought to be less affected by FXS than men?
Option List
|
A. |
two X chromosomes dilute the effect of an affected X chromosome |
|
B. |
leonisation |
|
C. |
lionisation |
|
D. |
lyonisation |
|
E. |
none of the above |
Question 4.
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 5.
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 6.
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 7.
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 8.
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 9.
Which mode of inheritance occurs with FXS?
|
A.
|
autosomal dominant |
|
B.
|
autosomal recessive |
|
C.
|
X-linked dominant |
|
D.
|
X-linked recessive |
|
E.
|
none of the above |
Question 10.
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.
Question 11.
What is the FXS premutation? What are its key features?
There is no option list – just write your Answers.
Question 12.
A woman has FXS. What is her approximate risk of POI?
Option List
|
A. |
0.1% |
|
B. |
1.0% |
|
C. |
5.0% |
|
D. |
10% |
|
E. |
20% |
|
F. |
none of the above |
Question 13.
A woman is a carrier of the FX pre-mutation. What is her approximate
risk of POI?
Use the option list in the previous question.
Question 14.
A woman develops POI. What is the chance that she has FXS?
Option List. There is none to make
you think.
Question 15.
A woman develops POI. What is the chance that she is a carrier of the
FXS premutation?
Option List. There is none to make
you think.
Question 16.
A woman develops POI. She has a 1st. degree relative with
POI. What is the chance that she has FXS?
Option List. There is none to make
you think.
Question 17.
A woman develops POI. She has a 1st. degree relative with
POI. What is the chance that she is a carrier of the FXS premutation?
Option List. There is none to make
you think.
The
following are TOG CPD questions. They are open access, so I have produced them
here. There are linked to the following article, which is also open access.
Fragile X syndrome:
an overview Bambang et al. TOG 2011. Volume 13. Issue 2
Fragile X syndrome (FXS)
1. is the most common cause of learning
difficulty. True / False
2. is an X-linked dominant disorder. True / False
With regard to women with FXS,
3. the phenotype is worse than in men. True / False
4. if they have the full mutation, they are
more likely to have a normal IQ than autistic features.
True / False
With regard to the genetics of FXS,
5. women with 100 trinucleotide repeats are at
higher risk of POI than those with 60. True / False
6. equal numbers of female & male
carriers of the premutation are affected by FXTAS.
True / False
With regard to POI and FXS,
7. up to 25% of women with the fragile X
premutation develop POI. True / False
8. measurement of levels of anti-Müllerian
hormone is a valid test for assessing risk of POI.
True / False
9. women with POI have a 5-10% chance of
spontaneous pregnancy. True / False
With regard to testing for FXS,
10. cell-free fetal DNA testing in maternal blood
at 11 weeks is available for identifying the fragile X premutation. True / False
11. cascade screening involves testing within
families of affected individuals. True / False
12. the HFEA allows preimplantation genetic
diagnosis of FXS. True / False
With regard to fragile X tremor ataxia
syndrome,
13. Parkinson’s disease is one of the recognised
differential diagnoses. True / False
With regard to testing for FXS,
14. PIGD allows distinction between the pre- and
full FMR-1mutations. True / False
With regard to FXS,
15. the mother and daughters of a normal
transmitting father are obligate carriers. True / False
16. women with the syndrome are at a greater risk
of developing depression compared with the general population. True / False
17. where there are larger numbers of repeat
trinucleotides, there is an increased tendency for these repeats to expand in
the offspring, causing them to have earlier onset or more severe clinical
effects. True / False
18. it is a recognised cause of macro-orchidism
before and after puberty. True / False
19. men with the syndrome are known to have
spermatozoa containing the FMR-1mutation.
True / False
20. in families of women with FXS, carriers of
the premutation are known to have irregular menses and shorter cycles than
non-carriers. True / False
35. 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 |
No comments:
Post a Comment