12
November 2020
|
6 |
RCOG & TOG sample questions. Go
through all of them as they make for easy marks. TOG has CPD questions in
every issue. Make sure you can answer all of them from the last 2 - 3 years,
don’t just read the articles. |
|
7 |
EMQ.
Fragile X syndrome |
|
8 |
EMQ. Maternal Mortality definitions |
|
9 |
EMQ. Uterine transplant. |
|
10 |
SBA. Lynch syndrome. |
|
11 |
SBA. Cowden syndrome. |
6. RCOG &
TOG sample questions.
Go through all of them as they make for easy marks. TOG has CPD questions
in every issue. Make sure you can answer all of them from the last 2 - 3 years,
don’t just read the articles.
7. EMQ.
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.
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, 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.
Lead-in
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.
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 5.
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 6.
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 7.
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 8.
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 9.
Lead-in
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.
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.
Question 11.
Lead-in
What is the FXS premutation? What are its key features?
There is no option list – just write your
Answers.
Question 12.
Lead-in
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.
Lead-in
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.
Lead-in
A woman develops POI. What is the chance that she has FXS?
Option List. There is none to make
you think.
Question 15.
Lead-in
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.
Lead-in
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.
Lead-in
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 feature. 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 expansion
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
8. EMQ.
Maternal Mortality definitions.
Option List.
A.
Death of a woman during
pregnancy and up to 6 weeks later, including accidental and incidental causes.
B.
Death of a woman
during pregnancy and up to 6 weeks later, excluding accidental and incidental
causes.
C.
Death of a woman
during pregnancy and up to 52 weeks later, including accidental and incidental
causes.
D.
Death of a woman
during pregnancy and up to 52 weeks later, excluding accidental and incidental
causes.
E.
A pregnancy going
to 24 weeks or beyond.
F.
A pregnancy going
to 24 weeks or beyond + any pregnancy resulting in a live-birth.
G.
Maternal deaths
per 100,000 maternities.
H.
Maternal deaths
per 100,000 live births.
I.
Direct + indirect
deaths per 100,000 maternities.
J.
Direct + indirect
deaths per 100,000 live births.
K.
Direct death.
L.
Indirect death.
M.
Early death.
N.
Late death.
O.
Extra-late death.
P.
Fortuitous death.
Q.
Coincidental
death.
R.
Accidental death.
S.
Maternal murder.
T.
Not a maternal
death.
U.
Yes
V.
No.
W.
I have no idea.
X.
None of the
above.
Abbreviations.
MD: maternal
death.
MMR: Maternal
Mortality Rate.
MMRat: Maternal
Mortality Ratio.
SUDEP: Sudden
Unexplained Death in Epilepsy.
Question 1.
What is a Maternal Death (MD)?
Option list.
|
A |
death during pregnancy |
|
B |
death during pregnancy or the month after |
|
C |
death during pregnancy or the six weeks after |
|
D |
death during pregnancy or the three months after |
|
E |
death during pregnancy or the year after |
|
F |
none of the above |
Question 2.
Which categories are included in the definition of MD? This is not a true
EMQ as >1 answer may be correct.
Option list.
|
A |
accidental death |
|
B |
coincidental death |
|
C |
direct death |
|
D |
iatrogenic death |
|
E |
incidental death |
|
F |
indirect death |
|
G |
late death |
Question 3.
Which categories are included in the discussions in the MMRs? This is not
a true EMQ as >1 answer may be correct.
Option list.
|
A |
accidental death |
|
B |
coincidental death |
|
C |
direct death |
|
D |
iatrogenic death |
|
E |
incidental death |
|
F |
indirect death |
|
G |
late death |
Question 4.
A woman dies
from a ruptured ectopic pregnancy at 10 weeks’ gestation. What kind of death is
it?
Question 5.
A woman dies
from a ruptured appendix at 10 weeks’ gestation. What kind of death is it?
Question 6.
A woman dies from suicide
at 10 weeks’ gestation. What kind of death is it?
Question 7.
A woman with a
10-year-history of coronary artery disease dies of a coronary thrombosis at 36
weeks’ gestation. What kind of death is it?
Question 8.
A woman has
gestational trophoblastic disease, develops choriocarcinomas and dies from it
24 months after the GTD was diagnosed and the uterus evacuated. What kind of death is it?
Question 9.
A woman
develops puerperal psychosis from which she makes a poor recovery. She kills
herself when the baby is 18 months old. What
kind of death is it?
Question 10.
A woman
develops puerperal psychosis from which she makes a poor recovery. She kills
herself when the baby is 6 months old. What
kind of death is it?
Question 11.
What is a
“maternity”.
Question 12.
What is the definition of
the Maternal Mortality Rate?
Question 13.
What is the
Maternal Mortality Ratio?
Question 14.
A woman is
diagnosed with breast cancer. She has missed a period and a pregnancy test is
+ve. She decides to continue with the pregnancy. The breast cancer does not respond
to treatment and she dies from secondary disease at 38 weeks. What kind of
death is it?
Question 15.
A woman who
has been the subject of domestic violence is killed at 12 weeks’ gestation by
her partner. What kind of death is it?
Question 16.
A woman is
struck by lightning as she runs across a road. As a result she falls under the
wheels of a large lorry which runs over abdomen, rupturing her spleen and
provoking placental abruption. She dies of haemorrhage, mostly from the
abruption. What kind of death is it?
Question 17.
A woman is abducted
by Martians who are keen to study human pregnancy. She dies as a result of the
treatment she receives. As this death could only have occurred because she was
pregnant, is it a direct death?
Question 18.
Could a
maternal death from malignancy be classified as “Direct”?
Question 19.
Could a
maternal death from malignancy be classified as “Indirect”?
Question 20.
Could a
maternal death from malignancy be classified as “Coincidental”?
Question 21.
A pregnant
woman is walking on the beach at 10 weeks when she is struck by lightning and
dies. What kind of death is this?
Question 22.
A woman is
sitting on the beach breastfeeding her 2-year old baby when she is struck by
lightning and dies. What kind of death is this?
9. EMQ. Uterine transplant.
Uterine transplant.
Abbreviations.
ET: embryo
transfer.
UT: uterine
transplant
Scenario 1.
When was the 1st.
human uterine transplant performed?
Option list.
|
A |
2000 |
|
B |
2015 |
|
C |
2010 |
|
D |
2011 |
|
E |
2012 |
|
F |
2013 |
|
G |
2014 |
|
H |
2015 |
|
I |
2016 |
|
J |
2017 |
Scenario 2.
When was the 1st.
livebirth after human uterine transplant?
Option list.
|
A |
2000 |
|
B |
2015 |
|
C |
2010 |
|
D |
2011 |
|
E |
2012 |
|
F |
2013 |
|
G |
2014 |
|
H |
2015 |
|
I |
2016 |
|
J |
2017 |
Scenario 3.
How many live
births had occurred worldwide after UT up to the end of 2018?
Option list
|
A |
< 5 |
|
B |
5 - 10 |
|
C |
11 - 20 |
|
D |
21 - 50 |
|
E |
51 - 100 |
|
F |
> 100 |
Scenario 4.
For which of
the following conditions is UT a possible treatment?
Option list.
|
A |
Androgen Insensitivity
syndrome. AIS. |
|
B |
Congenital Adrenal
hyperplasia. CAH. |
|
C |
Kallmann’s syndrome. KS. |
|
D |
Mayer-Rokitansky-Küster-Hauser
syndrome. MRKH. |
|
E |
McCune-Albright
syndrome. MCAS. |
|
F |
Swyer’s syndrome. SS. |
|
G |
Turner’s syndrome. TS. |
Scenario 5.
Which, if any,
of the following are commonly used for donor selection?
Option list.
|
A |
absence of adenomyosis |
|
B |
absence of fibroids |
|
C |
age < 65 years |
|
D |
good general health |
|
E |
negative cervical smear
and no high-risk HPV |
|
F |
no cancer in past 5
years |
|
G |
parous |
|
H |
vaginal length > 7
cm. |
Scenario 6.
Has successful
transplant occurred using a dead donor?
Option list.
|
A |
No |
|
B |
Yes |
Scenario 7.
What is the
rate of graft survival at 1 year, failure being the need for hysterectomy?
Option list.
|
A |
< 10% |
|
B |
11 – 20% |
|
C |
21 – 30% |
|
D |
31 – 40% |
|
E |
41 – 50% |
|
F |
51 – 60% |
|
G |
> 60% |
|
H |
the figure is unknown |
Scenario 8.
Which of the
following statements is correct?
Option list.
|
A |
donor surgery is more extensive
than recipient surgery |
|
B |
donor surgery is less
extensive than recipient surgery |
|
C |
donor surgery is as
extensive as recipient surgery |
Scenario 9.
What are the main risks for the recipient?
There is no option list to make you think.
Write down the main things you can think of.
Scenario 10.
What are the
risks to the donor in addition to the usual ones of bleeding, infection, haematoma and thrombosis? There is
no option list.
Scenario 11.
Which
condition has been the reason for recipients needing uterine transplant and
which complication is more likely in addition to the usual ones of
bleeding, infection, haematoma and
thrombosis? There is no option list.
Scenario 12.
When is IVF
and cryopreservation of eggs done?
Option list.
|
A |
before uterine
transplantation |
|
B |
at the time of uterine
transplantation |
|
C |
12 months after uterine
transplantation to ensure graft rejection does not occur |
|
D |
when the recipient
chooses |
|
E |
none of the above |
Scenario 13.
Which
maintenance therapy was used immediately before embryo transfer in the first
case resulting in livebirth?
Option list.
|
A |
azathioprine +
corticosteroids + tacrolimus |
|
B |
azathioprine +
ciclosporin + corticosteroids + mycophenolate mofetil |
|
C |
azathioprine +
corticosteroids + mycophenolate mofetil + tacrolimus |
|
D |
azathioprine +
corticosteroids + tacrolimus |
|
E |
ciclosporin +
corticosteroids + mycophenolate mofetil + tacrolimus |
|
F |
ciclosporin +
mycophenolate mofetil + tacrolimus |
|
G |
corticosteroids +
mycophenolate mofetil + tacrolimus |
|
H |
corticosteroids +
tacrolimus |
10. SBA. Lynch syndrome.
Lynch syndrome.
Abbreviations
CRC: colorectal cancer.
EC: endometrial cancer.
HNPCC: hereditary non-polyposis colo-rectal
cancer.
IBD: inflammatory bowel disease:
Crohn’s & ulcerative colitis.
IDDM: insulin-dependent diabetes mellitus.
Ls: Lynch syndrome.
Question 1.
Lead-in
What is Lynch syndrome?
Option List
|
A |
auto-immune condition leading to reduced factor X levels in blood |
|
B |
hereditary condition
which increases the risk of many cancers, particularly breast |
|
C |
hereditary condition which increases the risk of many cancers,
particularly breast & colorectal |
|
D |
hereditary condition which increases the risk of many cancers,
particularly colorectal & endometrial |
|
E |
none of the above |
Question 2.
Lead-in
How is Lynch syndrome inherited?
Option List
|
A |
it is an autosomal dominant condition |
|
B |
it is an autosomal
recessive condition |
|
C |
it is an X-linked
dominant condition |
|
D |
it is an X-linked recessive
condition |
|
E |
none of the above |
Question 3.
Lead-in
Which, if any, of the following genes can cause Lynch syndrome?
Option List
|
A |
MLH1 + MLH2 + MOH1 |
|
B |
MLH1 + MLH2 + MSH1 |
|
C |
MLH1 + MLH2 + MSH6 |
|
D |
MLH1 + MSH2 + MSH6 |
|
E |
None of the above |
Question 4.
Lead-in
Mutations of which 2 of the following genes cause the majority of cases
of Lynch syndrome?
Option List
|
A |
MLH1 + MLH2 |
|
B |
MLH1 + MSH1 |
|
C |
MLH1 + MSH2 |
|
D |
MLH2 + MSH1 |
|
E |
MLH2 + MSH2 |
Question 5.
Lead-in
What is the approximate prevalence of Ls in the UK population?
Option List
|
F. |
1 in 50 |
|
G. |
1 in 100 |
|
H. |
1 in 1,000 |
|
I.
|
3 in 1,000 |
|
J. |
none of the above |
Question 6.
Lead-in
Approximately what % of individuals with Ls have had the diagnosis
established?
Option List
|
F. |
< 5% |
|
G. |
5 -10% |
|
H. |
10-20% |
|
I.
|
20-30% |
|
J. |
>30% |
Question 7.
Lead-in
Which, if any, of the following conditions are associated with an ↑ risk of Lynch syndrome?
Conditions
|
acromegaly |
|
Addison’s disease |
|
anosmia |
|
coeliac disease |
|
IBD |
|
IDDM |
Option List
|
A |
acromegaly + Addison’s disease + coeliac disease + IBD + IDDM |
|
B |
acromegaly + disease + anosmia + coeliac disease + IBD |
|
C |
acromegaly + IBD + IDDM |
|
D |
acromegaly + IBD |
|
E |
Addison’s disease + anosmia + coeliac disease + IBD + IDDM |
|
F |
acromegaly + Addison’s disease + anosmia + coeliac disease + IBD +
IDDM |
|
G |
acromegaly + Addison’s disease + anosmia + coeliac disease + IBD +
IDDM |
|
H |
none |
Question 8.
Lead-in
Which 2 cancers are most likely in women with Lynch syndrome?
Cancers.
|
A |
breast |
|
B |
bowel |
|
C |
cervix |
|
D |
endometrium |
|
E |
ovary |
|
F |
pancreas |
Option List
|
A |
breast + bowel |
|
B |
breast + pancreas |
|
C |
breast + endometrium |
|
D |
bowel + cervix |
|
E |
bowel + endometrium |
|
F |
bowel + ovary |
|
G |
bowel + pancreas |
|
H |
endometrium + ovary |
Question 9.
Lead-in
What does NICE recommend about screening for Lynch syndrome for the
population with no personal history of colorectal cancer?
Option List
|
A |
offer screening to those
aged < 50 years with ≥ 1 affected 1st.O relative |
|
B |
offer screening to those
aged < 60 years with ≥ 1 affected 1st.O relative |
|
C |
offer screening to those
with ≥ 1 affected 1st.O relative aged < 50 years at
diagnosis |
|
D |
offer screening to those
with ≥ 1 affected 1st.O relative aged < 60 years at
diagnosis |
|
E |
none of the above |
Question 10.
Lead-in
What does NICE recommend in relation to screening for Lynch syndrome in
those with a new diagnosis of colorectal cancer?
Option List
|
A |
offer screening to everyone, regardless of age and family history |
|
B |
offer screening to those
aged < 50 years at diagnosis |
|
C |
offer screening to those
aged < 60 years at diagnosis |
|
D |
offer screening to those
aged < 50 years at diagnosis with + ≥ 1 affected 1st.O
relative |
|
E |
offer screening to those
aged < 60 years at diagnosis with + ≥ 1 affected 1st.O
relative |
Question 11.
Lead-in
What does NICE recommend about screening for Lynch syndrome for the
population with no personal history of thyroid cancer?
Option List
|
A |
offer screening to those
aged < 50 years with ≥ 1 affected 1st.O relative |
|
B |
offer screening to those
aged < 60 years with ≥ 1 affected 1st.O relative |
|
C |
offer screening to those
with ≥ 1 affected 1st.O relative aged < 50 years at
diagnosis |
|
D |
offer screening to those
with ≥ 1 affected 1st.O relative aged < 60 years at
diagnosis |
|
E |
none of the above |
Question 12.
Lead-in
What does NICE recommend in relation to screening for Lynch syndrome in
those with a new diagnosis of thyroid cancer?
Option List
|
A |
offer screening to everyone, regardless of age and family history |
|
B |
offer screening to those
aged < 50 years at diagnosis |
|
C |
offer screening to those
aged < 60 years at diagnosis |
|
D |
offer screening to those
aged < 50 years at diagnosis with + ≥ 1 affected 1st.O
relative |
|
E |
none of the above |
Question 13.
Lead-in
What does NICE recommend about screening for Lynch syndrome for the
population with no personal history of endometrial cancer?
Option List
|
A |
offer screening to those
aged < 50 years with ≥ 1 affected 1st.O relative |
|
B |
offer screening to those
aged < 60 years with ≥ 1 affected 1st.O relative |
|
C |
offer screening to those
with ≥ 1 affected 1st.O relative aged < 50 years at
diagnosis |
|
D |
offer screening to those
with ≥ 1 affected 1st.O relative aged < 60 years at
diagnosis |
|
E |
none of the above |
Question 14.
Lead-in
What does NICE recommend in relation to screening for Lynch syndrome in
those with a new diagnosis of endometrial cancer?
Option List
|
A |
offer screening to those
aged < 50 years with ≥ 1 affected 1st.O relative |
|
B |
offer screening to those
aged < 60 years with ≥ 1 affected 1st.O relative |
|
C |
offer screening to those
with ≥ 1 affected 1st.O relative aged < 50 years at
diagnosis |
|
D |
offer screening to those
with ≥ 1 affected 1st.O relative aged < 60 years at
diagnosis |
|
E |
none of the above |
Question 15.
Lead-in
What does NICE recommend about screening for Lynch syndrome for the
population with no personal history of colorectal cancer?
Option List
|
A |
offer screening to those
aged < 50 years with ≥ 1 affected 1st.O relative |
|
B |
offer screening to those
aged < 60 years with ≥ 1 affected 1st.O relative |
|
C |
offer screening to those
with ≥ 1 affected 1st.O relative aged < 50 years at
diagnosis |
|
D |
offer screening to those
with ≥ 1 affected 1st.O relative aged < 60 years at
diagnosis |
|
E |
none of the above |
Question 16.
Lead-in
What does NICE recommend in relation to screening for Lynch syndrome in
those with a new diagnosis of colorectal cancer?
Option List
|
A |
offer screening to everyone, regardless of age and family history |
|
B |
offer screening to those
aged < 50 years at diagnosis |
|
C |
offer screening to those
aged < 60 years at diagnosis |
|
D |
offer screening to those
aged < 50 years at diagnosis with + ≥ 1 affected 1st.O
relative |
|
E |
offer screening to those
aged < 60 years at diagnosis with + ≥ 1 affected 1st.O
relative |
Question 17.
Lead-in
What relationship, if any, exists between Ls and acromegaly?
Option List
|
A |
the risk of Ls is ↓ in those with
acromegaly compared with the general population |
|
B |
the risk of Ls is ↑ in those with
acromegaly compared with the general population |
|
C |
the risk of Ls is unchanged in those with acromegaly compared with the
general population |
|
D |
the risk of Ls in unknown in those with acromegaly |
Question 18.
Lead-in
What is the effect of aspirin consumption on the risk of EC and CRC?
Option List
|
A |
aspirin reduces the risk of EC and
CRC |
|
B |
aspirin reduces the risk of EC but not CRC |
|
C |
aspirin reduces the risk of CRC but not EC |
|
D |
aspirin does not reduce the risk of EC or CRC |
|
E |
aspirin reduces the risk
of EC and CRC, but the risks outweigh the benefits |
Question 19.
Lead-in
A healthy woman of 35 years is diagnosed with Ls? What are the key
elements of the National Screening Programme for people with Ls?
There is no option list – just write down everything you know.
Question 20.
Lead-in
Which, if any, of the following were recommendations made by Monahan et
al, the 30 experts who wrote to the BMJ in 2017?
Option List
|
A |
creation of a national register of people with Ls |
|
B |
creation of a post of
Consultant in Ls for each NHS Trust |
|
C |
creation of a post of
Clinical Champion for Ls in each NHS Region. |
|
D |
creation of a post of
Clinical Champion for Ls in the DOH. |
|
E |
none of the above |
11. SBA. Cowden syndrome.
Abbreviations.
Cs: Cowden syndrome.
PTEN: Phosphatase
and tensin homolog.
Scenario 1.
Which feature is associated with Cowden syndrome?
Option list.
A. albinism
B. hamartoma
C. hammer-toe
D. hypertrichosis
E. stammer
Scenario 2.
Which condition has the highest risk of occurrence in women with Cs?
Option list.
A. breast cancer
B. bowel cancer
C. congenital absence of Müllerian tract
derivatives
D. hypertension
E. hypothyroidism
Scenario 3.
Which gynaecological cancer is a particular risk for women with Cs?
Option list.
A. Bartholin’s gland cancer
B. cervical cancer
C. choriocarcinoma
D. endometrial cancer
E. vulval cancer
Scenario 4.
Which cancer is more common in men with Cs?
Option list.
A. breast cancer
B. colon cancer
C. melanoma
D. renal cancer
E. thyroid cancer
F. all of the above
Beirne. TOG CPD.
2015. 17.4. These are open-access.
Inherited cancer risk in gynaecology.
Only one question related to Cs
specifically, but the others could be asked.
With regard to inherited cancers,
1. germline mutations are the cause of
inherited cancer syndromes. True / False
2. they make up 5–10% of all cancers. True / False
3 the autosomal dominant mode of inheritance
is the most common. True / False
4. multifactorial interaction between low
penetration and environmental factors occurs in 20–25% of cases. True / False
With
regard to Cowden syndrome,
19. 80% of patients have an identifiable germline
mutation in PTEN. True / False
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