Role-play.
Sterilisation
request.
|
|
45
|
|
46
|
EMQ. Gordon, Holmes &
Semmelweis
|
47
|
EMQ.
Fragile X syndrome
|
48
|
SBA. Lynch syndrome.
|
Candidates.
Shradha Chakhaiyar India
Kate Danby UK
Sagnika Dash Qatar
Natasha D’Sousa UK
Marlon Hamsworth Malta
Krish Harikrishnan
UK
Pradeep Kaur India
Namrata Kumar India
Harriet Lamb UK
Fiona Mackie UK
Manupriya Madhaven India / London
Pratibha Malik India
Roma Poplawski UK
Surbhi Rathore India
Nandita Sanyal India
Kritika Vats India
44.
Role-play. Sterilisation request.
Candidate’s
instructions.
This
is a roleplay station. You are about to see Anne Jones who wishes to be
sterilised.
Your
tasks are to take a history and discuss her request.
GP
letter.
Castle
Surgery,
Gambit
Grove,
Chesstown.
CHS1 U99.
Re
Anne Jones.
25
Checkmate Street,
Chesstown.
CHS7 Y86.
Dear
Doctor,
Please
see Mrs Jones who wishes to be sterilised. Our family planning specialist is on
leave and I know little about modern contraception, so have not offered any
advice.
Regards,
Dr.
O.U.T. de Touche.
45.
Structured discussion. Cochrane Collaboration.
Candidate’s
instructions.
The examiner will
ask you 10 questions about Cochrane.
The discussion will
refer to the chart below.
46. Gordon,
Holmes & Semmelweis.
Which,
if any, of the following statements are true in relation to Semmelweis?
Option list.
A
|
his full name
was Ignác Fülöp Semmelweis, but he was known to friends as "Naci".
|
B
|
he lived from
1818 to 1865
|
C
|
he
revolutionised understanding of ‘childbed fever’
|
D
|
he
revolutionised understanding of rheumatic fever
|
E
|
he
revolutionised understanding of tuberculosis
|
F
|
he pioneered
proton beam therapy
|
G
|
his
professional ‘Damascene moment’ came after the death of his colleague,
Kolletschka, at the hands of a medical student in 1847
|
H
|
his work was
vilified by the majority of his professional contemporaries
|
I
|
he died in a lunatic
asylum
|
J
|
he died in a
road traffic accident
|
K
|
he died at home
in bed with his mistress
|
Scenario 2.
Which,
if any, of the following statements are true in relation to Gordon?
Option list.
A
|
his full name
was Hamish Gordon, but he was known to friends as "Hamy".
|
B
|
he lived from
1801 to 1864
|
C
|
he
revolutionised understanding of ‘childbed fever’
|
D
|
he
revolutionised understanding of rheumatic fever
|
E
|
he
revolutionised understanding of tuberculosis
|
F
|
he pioneered
proton beam therapy
|
G
|
his professional
‘Damascene moment’ came after epidemics of erysipelas and puerperal fever in
Aberdeen in the late 18th. century
|
H
|
his work was
vilified by the majority of his professional contemporaries
|
I
|
he died in a
lunatic asylum
|
J
|
he died in a
road traffic accident
|
K
|
he died at home
in bed with his mistress
|
Scenario
3.
Which, if any, of the following statements are true in relation to
Wendell Holmes?
Option
list.
A
|
his full name was Wendell Holmes, but he was known to friends as
"Wellie".
|
B
|
he lived from 1801 to 1864
|
C
|
he revolutionised understanding of ‘childbed fever’
|
D
|
he revolutionised understanding of rheumatic fever
|
E
|
he revolutionised understanding of tuberculosis
|
F
|
he pioneered proton beam therapy
|
G
|
he was a fan of the work of Gordon.
|
H
|
his work on childbed fever was vilified by the majority of his
professional contemporaries
|
I
|
he died in a lunatic asylum
|
J
|
he died in a road traffic accident
|
K
|
he died at home in bed with his mistress
|
47. Fragile
X syndrome
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 dilutes the effect of 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
F.
|
Down’s
syndrome
|
G.
|
fragile X syndrome
|
H.
|
galactosaemia
|
I.
|
homocystinuria
|
J.
|
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.
Answer.
Females
|
Males
|
POI GHR says 20% have overt POI with menopause by the
age of 40, compared with a 1% risk in other women. Others have ‘occult’ POI
with reduced fertility but normal cycles.
A woman with POI has a 2-4% of having the FX
premutation. If there is a family history of POI, the figure is up to 15%.
~ 90% of POI has no identified cause and the FX
permutation carrier status is the most common known cause.
The premutation may expand to the full mutation when
handed on to a son, giving him full-blown FXS.
It is handed on intact to daughters, giving them a
50:50 risk of getting it.
The premutation predisposes women to anxiety,
depression and social awkwardness.
|
FXTAS which classically develops from the 60s on.
Many men were ‘high flyers’ in their early days.
There is some evidence of mental deterioration before
the tremor and ataxia are apparent.
|
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%
|
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 (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 carriers of the premutation are affected by fragile X
tremor ataxia syndrome as male carriers. 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
48. 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
K.
|
1 in 50
|
L.
|
1 in 100
|
M.
|
1 in 1,000
|
N.
|
3 in 1,000
|
O.
|
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
|
.
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