Website
|
13
|
EMQ. Uterine transplant.
|
|
SBA. Lynch syndrome.
|
|
|
15
|
EMQ. Maternal Mortality definitions.
|
|
16
|
SBA. Pertussis and pregnancy.
|
|
17
|
EMQ. Phenylketonuria.
|
13. 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
|
2005
|
|
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.
Same as Scenario 1.
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
|
14. 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
|
A.
|
1 in 50
|
|
B.
|
1 in 100
|
|
C.
|
1 in
1,000
|
|
D.
|
3 in
1,000
|
|
E.
|
none of the above
|
Question 6.
Lead-in
Approximately
what % of individuals with Ls have had the diagnosis established?
Option List
|
A.
|
< 5%
|
|
B.
|
5 -10%
|
|
C.
|
10-20%
|
|
D.
|
20-30%
|
|
E.
|
>30%
|
Question 7.
Lead-in
Which, if
any, of the following conditions are associated with an ↑
risk of Lynch syndrome?
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
|
none
|
Question 8.
Lead-in
Which 2
cancers are most likely in women with Lynch syndrome?
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
|
15. EMQ.
Maternal Mortality definitions.
Lead-in.
Pick the option that best answers the question in each
scenario.
Each option can be used once, more than once or not at
all.
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.
MMR: Maternal Mortality Rate.
MMRat: Maternal Mortality Ratio.
SUDEP: Sudden Unexplained Death in Epilepsy.
Scenario 1.
What is a Maternal Death?
Scenario 2.
A woman dies from a ruptured
ectopic pregnancy at 10 weeks’ gestation. What kind of death is it?
Scenario 3.
A woman dies from a ruptured
appendix at 10 weeks’ gestation. What kind of death is it?
Scenario 4.
A woman dies from suicide at 10 weeks’ gestation. What
kind of death is it?
Scenario 5.
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?
Scenario 6.
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?
Scenario 7
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?
Scenario 8
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?
Scenario 9
What is a “maternity”.
Scenario 10
What is the definition of the Maternal Mortality Rate?
Scenario 11
What is the Maternal Mortality
Ratio?
Scenario 12
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?
Scenario 13
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?
Scenario 14
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?
Scenario 15
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?
Scenario 16
Could a maternal death from malignancy
be classified as “Direct”.
Scenario 17
Could a maternal death from
malignancy be classified as “Indirect”.
Scenario 18
Could a maternal death from
malignancy be classified as “Coincidental”?
Scenario 19.
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?
Scenario 20.
A woman is sitting on the beach
breastfeeding her 2-month old baby when she is struck by lightning and dies.
What kind of death is this.
16. SBA.
Pertussis and pregnancy.
Question 1.
Lead-in.
Why is pertussis of current concern in
obstetrics?
Option
List
|
A
|
Research has linked pertussis
in the 1st. trimester with an ↑ risk of congenital heart disease
|
|
B
|
A mini-epidemic since 2011 has caused ↑ deaths of mothers & of babies
< 3 months
|
|
C
|
A mini-epidemic since 2011 has caused ↑ deaths of babies < 3 months
|
|
D
|
The infecting organism has become increasingly drug-resistant
|
|
E
|
The infecting organism has become increasingly virulent
|
Question 2.
Lead-in
Which organism causes whooping
cough?
Option
List
|
A
|
Bordella
pertussis
|
|
B
|
Bacteroides pertussis
|
|
C
|
Rotavirus whoopoe
|
|
D
|
Respiratory syncytiovirus pertussis
|
|
E
|
None of the above
|
Question 3.
Lead-in
Which, if any, of the following
statements is true about the organism what causes whooping cough? This is not a
true SBA as I have condensed several questions into one to save space, there
are more than 5 options and there may be more than one correct answer.
Option
List
|
A
|
the organism is aerobic
|
|
B
|
the organism is anaerobic
|
|
C
|
the organism is capsulated
|
|
D
|
the organism is flagellate
|
|
E
|
the
organism is an obligate intra-cellular parasite
|
|
F
|
the organism is a Gram -ve diplococcus
|
|
G
|
the organism is a Gram +ve diplococcus
|
|
H
|
the organism requires special transport
media
|
|
I
|
no one is going to ask me any of this stuff
|
Lead-in
Which of the following statements is true?
Option List
|
A
|
Pertussis is no longer a significant threat
to infants
|
|
B
|
Pertussis
remains a significant threat to infants
|
|
C
|
The risk
of death from pertussis is eliminated by timely antibiotic therapy
|
|
D
|
the risk
of death from pertussis is eliminated by timely antiviral therapy
|
|
E
|
None of
the above
|
Question 5.
Lead-in
Which of the following statements
is true?
Option
List
|
A
|
Pertussis
is not a notifiable disease
|
|
B
|
Pertussis is a notifiable disease
|
|
C
|
Pertussis is not a notifiable
disease, but cases should be reported to the local bacteriologist
|
|
D
|
Pertussis is not a notifiable disease,
but cases should be subject to audit
|
Question 6.
Lead-in
What is the main mode of spread
of the organism that causes pertussis?
Option
List
|
A
|
contact with contaminated
surfaces
|
|
B
|
contaminated food
|
|
C
|
contaminated water
|
|
D
|
respiratory droplets
|
|
E
|
none of the above
|
Question 7.
Lead-in
What is the main reservoir of the
organism that causes pertussis?
Option
List
|
A
|
budgerigars
|
|
B
|
cats
|
|
C
|
dogs
|
|
D
|
humans
|
|
E
|
pigeons
|
|
F
|
pigs
|
|
G
|
none of the above
|
Question 8.
Lead-in
What is the epidemiology of
pertussis?
Option
List
|
A
|
the
condition is endemic
|
|
B
|
the condition is endemic with
mini-epidemics every 3-5 years
|
|
C
|
the condition is endemic with
mini-epidemics most years in the winter months
|
|
D
|
the condition is epidemic, with
outbreaks at roughly three-year intervals
|
|
E
|
the condition is epidemic, with
outbreaks at unpredictable intervals
|
Question 9.
Lead-in
What is the incubation period for
pertussis?
Option
List
|
A
|
3-6 days
|
|
B
|
7-10 days
|
|
C
|
11-14 days
|
|
D
|
15-18 days
|
|
E
|
none of the above.
|
Question 10.
Lead-in
What is the duration of infectivity
of someone with pertussis?
Option
List
|
A
|
2 days from exposure → 5 days
after onset of paroxysms of coughing
|
|
B
|
3 days from exposure → 10 days
after onset of paroxysms of coughing
|
|
C
|
4 days from exposure → 14 days
after onset of paroxysms of coughing
|
|
D
|
6 days from exposure → 21 days
after onset of paroxysms of coughing
|
|
E
|
none of the above
|
Question 11.
Lead-in
What % of non-immune, close
contacts of pertussis will develop the disease?
Option
List
|
A
|
50%
|
|
B
|
60%
|
|
C
|
70%
|
|
D
|
80%
|
|
E
|
90%
|
Question 12.
Lead-in
What practical issues are current
for obstetrician in relation to pertussis?
Option
List
|
A
|
The
DOH advises that all pregnant women be immunised to ↓maternal death rates.
|
|
B
|
The DOH advises that all pregnant
women be immunised to ↓ deaths in babies < 3 months.
|
|
C
|
The DOH advises that all babies be
immunised at birth.
|
|
D
|
The DOH advised that “Boostrix- IPV” should replace
“Repevax” from July 2014.
|
|
E
|
The DOH advises that immunisation of
pregnant women be continued until 2019
|
Question 13.
Lead-in
Which, if any, of the following
statements is true in relation to average annual number of deaths due to
pertussis in the years before routing child immunisation was introduced?
Option
List
|
A
|
the number was 10,000
|
|
B
|
the number was 5,000
|
|
C
|
the number was 4,000
|
|
D
|
the number was 3,500
|
|
E
|
the number was <1,000
|
Question 14.
Lead-in
Which, if any, of the following
statements are true in relation to pertussis vaccine.
Option
List
|
A
|
“Boostrix- IPV” is a vaccine for pertussis only
|
|
B
|
“Repevax” is a vaccine for pertussis
only
|
|
C
|
“Boostrix- IPV” &
“Repevax” are live, attenuated vaccines
|
|
D
|
“Boostrix- IPV” &
“Repevax” act against diphtheria, tetanus and polio as well as pertussis
|
|
E
|
“Boostrix- IPV” &
“Repevax” are acellular
|
Question 15.
Lead-in
Which, if
any, of the following statements are true in relation to the JCVI’s advice of
the best time to administer pertussis vaccine in pregnancy?
Option List
|
A
|
20 - 24
weeks
|
|
B
|
25- 28 weeks
|
|
C
|
28 - 32 weeks
|
|
D
|
28 - 34 weeks
|
|
E
|
none of the above
|
Question 16.
Lead-in
A woman
has suspected pertussis in early pregnancy. Should she still be offered
vaccination?
Option List
|
A
|
Yes
|
|
B
|
No
|
|
C
|
I don’t know
|
|
D
|
I don’t know
|
|
E
|
I hate this subject now
|
Question 17.
Lead-in
A woman
has proven pertussis in early pregnancy. Should she still be offered
vaccination?
Option List
|
A
|
Yes
|
|
B
|
No
|
|
C
|
I don’t know
|
|
D
|
I don’t know
|
|
E
|
I hate this subject now
|
Question 18.
Lead-in
A pregnant
woman misses out on vaccination as part of the TIPP. Should vaccination still
be offered in the puerperium?
Option List
|
A
|
Yes
|
|
B
|
No
|
|
C
|
I don’t know
|
|
D
|
I don’t know
|
|
E
|
I am having a breakdown due to this subject now
|
17. EMQ.
Phenylketonuria.
Some of these are not true EMQs – some have
no option list and you have to decide the correct answer for yourself. This is
what you are advised to do in the exam – read the question, decide the answer
and then look for it on the option
list.
Abbreviations.
BH4: tetrahydrobiopterin.
BH4D: tetrahydrobiopterin deficiency.
HPA: hyperphenylalaninaemia.
PA: phenylalanine.
PAH: phenylalanine hydroxylase.
PKU: phenylketonuria.
Tyr: tyrosine.
Option list.
|
A.
|
autosomal dominant
|
|
B.
|
autosomal recessive
|
|
C.
|
X-linked dominant
|
|
D.
|
X-linked recessive
|
|
E.
|
1 in 100,000
|
|
F.
|
1 in 50,000
|
|
G.
|
1 in 10,000
|
|
H.
|
1 in 5,000
|
|
I.
|
deficiency in phenylalanine
hydroxylase
|
|
J.
|
deficiency in phenylalanine
oxidase
|
|
K.
|
deficiency in phenylalanine
transferase
|
|
L.
|
deficiency in phenylketone hydroxylase
|
|
M.
|
deficiency in phenylketone
oxidase
|
|
N.
|
raised PA levels
|
|
O.
|
reduced PA levels
|
|
P.
|
raised tyrosine levels
|
|
Q.
|
reduced tyrosine levels
|
|
R.
|
normal tyrosine levels
|
|
S.
|
No
|
|
T.
|
Yes
|
|
U.
|
unknown
|
What
is PKU? Write your answer – there is no option list.
Question
2.
What is PKU due to? Use the option list.
Question
3.
What levels of PA and Tyr are typical in PKU?
Use the option list. This is not a real EMQ as there are two answers.
Question
4.
Is PKU subdivided into different categories?
If “yes”, what are the categories? Write your answer – there is no option list.
Question
5.
How is PKU inherited? Use the option list.
Question
6.
Which chromosome houses the gene related to
PKU transmission?
Question
7.
How many mutations of the gene related to PKU
have so far been identified?
Question
8.
Is a person with PKU likely to have one or
two mutations of the relevant gene?
Question
9.
What are the main consequences of PKU? Write
your answer – there is no option list.
Question
10.
Which, if any, of the following are
characteristic of PKU?
Option list.
|
A.
|
alopecia
|
|
B.
|
angst
|
|
C.
|
facial dysmorphism
|
|
D.
|
facial hair in females and
pre-pubertal males
|
|
E.
|
kyphosis
|
|
F.
|
macroorchidism in post-pubertal
males
|
Question
11.
Are fetal PKU levels higher or lower than
maternal? Write your answer – there is no option list.
Question
12.
What is the approximate prevalence of PKU in
Caucasians?
Question
13.
The prevalence of PKU varies between ethnic
groups.
Match each of the following ethnic groups to
the closest prevalence given in the option list.
Option List
|
1.
|
1 in 1,000
|
|
2.
|
1 in 2,500
|
|
3.
|
1 in 5,000
|
|
4.
|
1 in 10,000
|
|
5.
|
1 in 100,000
|
|
6.
|
1 in 150,000
|
|
7.
|
1 in 200,000
|
|
8.
|
1 in 1,000,000
|
|
Ethnic group
|
Prevalence
|
|
Turkish
|
|
|
Irish
|
|
|
Caucasian
|
|
|
East Asian
|
|
|
Japanese
|
|
|
Finnish
|
|
Question
14.
Is screening for PKU a routine part of the
neonatal screen in the UK?
Question
15.
The test for PKU used to be known by the name
of its inventor. Who was he and why did he have a particular interest? There is no option list and no one is
going to ask you except me!
Lead-in
What
is the main treatment of PKU and what problems are associated with it? There is
no option list.
Question 17.
Lead-in
How
long should the main treatment of PKU be continued and why? There is no option
list.
Question
18.
Lead-in
A woman with PKU is planning her first
pregnancy at the age of 22. She has been off the PKU-restricted diet since the
age of 10 and can barely remember being on it. Should she be advised to
re-start the diet? If ‘yes’, when should she start and what explanation would
you give for the advice?
Question
19.
Lead-in
Is breast-feeding advisable for women with
PKU?
Question
20.
Lead-in
Are any other therapeutic approaches
available? If ‘yes’, what are they and how do they work? If ‘yes’ use the
option list for the mode of action.
There is a recent TOG article by Munyame et al.
The linked CPD questions are here:
It is not yet free-access, but the first page is
displayed on the internet and happens to have the phenylketonuria questions, so
you can access them.
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