Thursday 4 August 2016

Tutorial 4 August 2016

4 August 2016.

 54
EMQ. Folic acid & pregnancy
55
EMQ. BRCA 1 & 2
56
EMQ. Turner’s syndrome
57
EMQ. AMH
58
SBA. Kisspeptin

54.   EMQ. Folic acid & pregnancy.
Lead-in.
There is no option list. You have to decide your answers.
Option list.
There is none.
Scenario 1.                
What is the incidence of NTD in the UK?
Scenario 2.                
What is the risk of an affected sibling for the woman who becomes pregnant after having a baby with NTD?
Scenario 3.                
Which foods contain significant amounts of folic acid?
Scenario 4.                
What percentage of folic acid is destroyed by cooking / food storage?
How many people in the UK are estimated to have a folate-deficient diet?
Scenario 5.                
What is the significance of the MTHFR (Methylenetetrahydrofolate reductase gene)?
Scenario 6.                
What is the significance of the Meckel-Gruber syndrome to this issue?
Scenario 7.                
By what gestation has the neural tube closed?
Scenario 8.                
What proportion of pregnant women have taken folic acid preconceptually?
Scenario 9.                
What dose and duration of folic acid is advised for routine periconceptual use?
Scenario 10.            
List the women to whom a higher dose should be offered.
Scenario 11.            
How effective is periconceptual folic acid consumption in reducing NTD risk in the low-risk population?
Scenario 12.            
How effective is periconceptual folic acid consumption in reducing NTD risk in women who have had an affected baby?
Scenario 13.            
What is the risk of NTD recurrence for a woman who has had two affected babies?
Scenario 14.            
What is the risk of NTD in Ireland?
Scenario 15.            
Scenario 16.            
What effect does periconceptual folic acid have on the risk of stillbirth?
Scenario 17.            
What effect does periconceptual folic acid have on the risk of autistic spectrum disorder?
Scenario 18.            
What effect does periconceptual folic acid have on maternal haemoglobin levels?
Scenario 19.            
What recommendations have been made by the RCOG to improve folic acid levels in pregnancy?
Scenario 20.            
Which names are of importance in the history of folic acid and NTD?
Scenario 21.            
What neurological condition has been thought potentially problematic with folic acid supplementation?
Scenario 22.
Which, if any, of the following have been linked to maternal folic acid levels?
A
↓ risk of multiple sclerosis in offspring with normal maternal levels
B
↑ risk of placental abruption with low maternal levels
C
↑ risk of autistic spectrum disorder with excessive maternal levels
D
↑ risk of IUGR with low maternal levels
E
↑ risk of premature delivery with low maternal levels.
is thought that the amount of maternal exposure to sunlight may be the key factor.

55.   SBA.
BRCA1 & 2 carriers and risk of breast and ovarian cancer.
Abbreviations.
BSO:        bilateral salpingo-oophorectomy
EOC:        epithelial ovarian cancer
HGSOG:  high-grade serous ovarian cancer
LGSOG:   low-grade serous ovarian cancer
Scenario 1.
Which, if any, of the following statements are true?
A
EOC is the most common gynaecological cancer in the developed world
B
EOC is the leading cause of death from gynaecological cancer in the developed world
C
50% of EOC is mucinoid
D
HGSOG is 20 times more common than LGSOG
E
HGSOG is the main cause of death from ovarian cancer
F
overall life time risk of EOC is 1 in 70
G
the main risk factors for EOC are cigarette smoking & older age
H
5% of ovarian cancer is due to identified hereditary genetic factors
I
BRCA1 is linked to an ↑ risk of breast, ovarian, pancreatic and prostate cancer
J
BRCA2 is linked to an ↑risk of breast, ovarian, pancreatic and prostate cancer & melanoma
K
The prevalence of BRCA1 & 2 mutations is about 1 in 400 in the general population
L
The prevalence of BRCA1 & 2 mutations is about 1 in 40 in the Ashkenazi Jewish population
M
The risk of developing ovarian cancer by 75 years is BRCA1: 50% and BRCA2: 25%
N
EOC associated with BRCA1 &2 is mostly low-grade mucinous in type
O
The risk of male breast cancer is about 7% with BRCA2, higher than with BRCA1
P
BRCA1 & 2 are DNA repair genes
Q
male breast, pancreatic and prostate cancer are more common with BRCA2 than BRCA1
Scenario 2.
A woman of 30 has two sisters who developed breast cancer before the age of 40. They and she have been proved to be carriers of BRCA1.
She attends the gynaecology clinic requesting information about her lifetime risk of breast cancer.
What is the approximate figure?
Scenario 3.
A woman of 30 has two sisters who developed breast cancer before the age of 40. They and she have been proved to be carriers of BRCA1.
She attends the gynaecology clinic requesting information about her lifetime risk of ovarian cancer.
What is the approximate figure?
Scenario 4.
A woman of 30 has two sisters who developed breast cancer before the age of 40. They and she have been proved to be carriers of BRCA2.
She attends the gynaecology clinic requesting information about her lifetime risk of breast cancer.
What is the approximate figure?
Scenario 5.
A woman of 30 has two sisters who developed breast cancer before the age of 40. They and she have been proved to be carriers of BRCA2.
She attends the gynaecology clinic requesting information about her lifetime risk of ovarian cancer.
What is the approximate figure?
Scenario 6.
The woman asks for the overall figure for lifetime risk of breast cancer in UK women for comparison with her risk. What is the approximate figure?
Scenario 7.
The woman asks for the overall UK figure for lifetime risk of ovarian cancer for comparison with her risk. What is the approximate figure?
Scenario 8
Which of the following genes have mutations that increase the risk of breast cancer?
A
ATM
B
CDH1
C
CHEK1
D
FATHEAD
E
MARBELLA.
F
NBENE
G
p45
H
p53.
I
PALB2
J
PNINE
K
PTEN
L
RADON50
M
RINT1
Scenario 9
A man of 30 has two sisters who developed breast cancer before the age of 40. They and he have been proved to be carriers of BRCA2.
His GP phones to ask about his lifetime risk of breast cancer. What is the approximate figure?
Scenario 10
A man of 30 has two sisters who developed breast cancer before the age of 40. They and he have been proved to be carriers of BRCA2.
His GP phones to ask about his lifetime risk of ovarian cancer. What is the approximate figure?
Scenario 11
A woman of 30 has two sisters who developed breast cancer before the age of 40. They and she have been proved to be carriers of BRCA2.
She attends the gynaecology clinic requesting information about the value of prophylactic mastectomy. What advice will you give about efficacy?
Scenario 12
A woman of 30 has two sisters who developed breast cancer before the age of 40. They and she have been proved to be carriers of BRCA2.
She attends the gynaecology clinic requesting information about the benefits of prophylactic salpingo-oophorectomy – her family is complete and her husband has had vasectomy. What is the approximate figure for the efficacy of BSO in relation to cancer?
Scenario 13.
A woman of 30 has two sisters who developed breast cancer before the age of 40. They and she have been proved to be carriers of BRCA1.
She attends the gynaecology clinic requesting information about the benefits of prophylactic salpingo-oophorectomy. What are the disadvantages of BSO?
Scenario 14
A woman of 30 has two sisters who developed breast cancer before the age of 40. They and she have been proved to be carriers of BRCA1.
She attends the gynaecology clinic requesting information about the benefits of prophylactic salpingo-oophorectomy.  What alternatives should be discussed?

56.   EMQ.
Turner’s  syndrome.
This is supposed to be an EMQ, but some of the questions are MCQs with “True” and “False” answers. But it includes everything I think you might be asked about Turner’s.
Abbreviations.
DDH
developmental dysplasia of the hip
Option list 1.

  1.  
1 in   500

  1.  
1 in 1,000

  1.  
1 in 1,500

  1.  
1 in 2,000

  1.  
1 in 2,500

  1.  
1 in 3,000

  1.  
1 in 10,000

  1.  
1 in 50,000
Option list 2.

  1.  
0%

  1.  
0.1%

  1.  
1 %

  1.  
2%

  1.  
5%

  1.  
10%

  1.  
15%

  1.  
20%

  1.  
30%

  1.  
40%

  1.  
50%

  1.  
60%

  1.  
70%

  1.  
80%

  1.  
90%

  1.  
> 90%

  1.  
Most common

  1.  
2nd. most common

  1.  
True

  1.  
False

  1.  
Answer not on this option list.
Option list 1 is for question 2, option list 2 is for all the others.
1.         TS is due to 45XO.                                                                                                            True /False
2.         What is the incidence of TS?                                                                                         
3.         The incidence of TS rises with maternal age?            .                                                True /False
4.         Most cases of TS are due to loss of a paternal chromosome.                                True /False
5.         How common is monosomy X in TS?                         
6.         How common is monosomy Y in TS?                         
7.         What % of miscarriages are due to TS?                     
8.         What % of TS pregnancies miscarry?                         
9.         ↑ NT is a feature of TS                                                                                                    True /False
10.     ↑ NT is more common in foetuses with congenital heart disease                        True /False
11.     Low birth weight is a feature of TS.                                                                               True /False.
12.     If TS is suspected, but the neonate’s karyotype from blood testing is normal, the diagnosis is Noonan’s syndrome.                                                                                                      True /False.
13.     Neonates with TS are at normal risk of DDH.                                                             True /False
14.     Immune hydrops is more common in TS.                                                                   True /False
15.     Cystic hygroma is more common in TS.                                                                       True /False
16.     What is the approximate risk of gonadal malignancy if there is XY mosaicism in TS?   
17.     How common is webbing of the neck in TS?                           
18.     How common is a low occipital hairline in TS?                       
19.     How common is congenital heart disease in TS?     
20.     Dissecting aortic aneurysm is more common in TS.                                                  True /False
21.     How common is lymphoedema in TS?                       
22.     How common is kidney disease in TS?                       
23.     Short stature in TS has been linked to the TS gene.                                                  True /False
24.     What % of adolescents with TS have scoliosis.         .
25.     Inverted nipples are more common in TS.                                                                  True /False
26.     1ry. amenorrhoea occurs in all cases.                                                                         True /False
27.     Adrenarche occurs at a normal time.                                                                          True /False
28.     Cubitus valgus is more common in TS.                                                                        True /False
29.     Cleft palate if a feature of TS.                                                                                        True /False
30.     Micrognathia is a feature of TS.                                                                                    True /False
31.     Abnormalities of teeth and nails are more common in TS.                                     True /False
32.     Otitis media is more common in TS.                                                                                           True /False
33.     Intelligence is usually lower in TS, especially verbal skills.                                       True /False
34.     Women with TS have higher mortality rates than other women.                          True /False
35.     Oestrogen should be started on diagnosis to promote bone growth.                     True /False
36.     Oestrogen-only HRT is appropriate for bone protection.                                        True /False
37.     Women with TS have an ↑ risk of hypertension.                                                     True /False
38.     Women with TS have an ↑ risk of coeliac disease.                                                  True /False
39.     Women with TS have an increased risk of Crohn’s disease and ulcerative colitis.         True /False
40.     Women with TS have an ↑ risk of diabetes                                                                              True /False
41.     Women with TS have an ↑ risk of hyperthyroidism.             True /False                                   True /False
42.     Women with TS have an ↑ risk of deafness.            .                                                True /False
43.     Women with TS have an ↑ risk of osteoporosis.                                                      True /False
44.     Women with TS have similar rates of red-green colour blindness to men.                      True /False
45.     Women with TS have a normal incidence of ptosis.                                                 True /False
46.     Women with TS cannot have children.                                                                        True /False
47.     The “short stature homeobox” (SHOX) gene has been implicated in TS.                    True /False

57.   EMQ. AMH
AMH.
Abbreviations.
AFC:         antral follicle count
AFP:         antral follicle pool
AMH:       anti-Müllerian hormone
COC:        combined oral contraceptive
COS:        controlled ovarian stimulation
GnRHA:   gonadotrophin releasing hormone analogue
PCOS:      polycystic ovary syndrome
POF:         premature ovarian failure
SHBG:      sex hormone binding globulin
Question 1.
Lead-in
Which of the following statements best describes AMH.
Option List
A.       
AMH is a GnRH analogue
B.       
AMH is a decapeptide
C.       
AMH is an octopeptide
D.       
AMH is a glycoprotein
E.        
AMH is an aromatase inhibitor
Question 2.
Lead-in
Option List
From whom does the word “Müllerian” originate?
A.       
Andreas John Müller
B.       
Johannes Peter Müller
C.       
Heinrich Müller
D.       
Jacob Müllerian
E.        
Peter Müllerian.
Question 3.
Lead-in
Where is AMH produced?
Option List
A.       
anterior pituitary
B.       
granulosa cells
C.       
granulosa and Leydig cells
D.       
granulosa and Sertoli cells
E.        
Sertoli cells
Question 4.
Lead-in
What is the story about AMH and Swyer’s syndrome in the fetus?
Option List
A.       
AMH and testosterone are produced in normal amounts
B.       
AMH and testosterone are produced at about half the normal levels
C.       
AMH is produced in normal amounts; testosterone is deficient
D.       
AMH is deficient; testosterone is produced in normal amounts
E.        
AMH and testosterone are both deficient
Question 5.
Lead-in
Which of the following statements best apply to AMH and the female?
Option List
A.       
ovarian granulosa cells produce AMH from 20 weeks’ gestation  and production continues throughout life
B.       
ovarian granulosa cells produce AMH from 36 weeks’ gestation and production continues throughout life
C.       
ovarian granulosa cells produce AMH from 20 weeks’ gestation and production continues until puberty
D.       
ovarian granulosa cells produce AMH from  20 weeks’ gestation and production continues until the menopause
E.        
ovarian granulosa cells produce AMH from 36 weeks’ gestation and production continues until the menopause
Question 6.
Lead-in
Where is AMH mostly produced?
Option List
A.       
granulosa cells of pre-antral and small antral follicles
B.       
granulosa cells of the dominant follicle
C.       
granulosa cells of primordial follicles
D.       
corpus luteum
E.        
anterior pituitary
Question 7.
Lead-in
What is the relationship between AMH and the AFP?
Option List
A.       
AMH levels correlate well with the AFP
B.       
AMH levels fluctuate throughout the menstrual cycle and only correlate with the AFP between days 1 and 5
C.       
AMH levels fluctuate throughout the menstrual cycle and only correlate with the AFP about 7 days before menstruation
D.       
AMH is inversely proportional to the  AFP
E.        
AMH does not correlate well with the AFP.
Question 8.
Lead-in
What is the relationship between a woman’s reproductive potential and her age?
Option List
A.       
Reproductive potential is directly proportional to age
B.       
Reproductive potential is inversely proportional to age
C.       
Reproductive potential declines with age
D.       
Reproductive potential declines exponentially with age
E.        
Reproductive potential declines linearly with age
Question 9.
Lead-in
What is the main effect of AMH in the female fetus?
Option List
A.       
promotion of the development of the para-mesonephric system
B.       
promotion of the development of the mesonephric system
C.       
suppression of the development of the para-mesonephric system
D.       
suppression of the development of the mesonephric system
E.        
none of the above
Question 10.
Lead-in
What is the main effect of AMH in the male fetus?
Option List
A.       
promotion of the development of the para-mesonephric system
B.       
promotion of the development of the mesonephric system
C.       
suppression of the development of the para-mesonephric system
D.       
suppression of the development of the mesonephric system
E.        
none of the above
Question 11.
Lead-in
What is the main role of AMH in the woman of reproductive years?
Option List
A.       
acts to encourage primordial follicles to mature and join the pool of antral follicles
B.       
acts to prevent primordial follicles maturing and joining the pool of antral follicles
C.       
is the trigger for the LH surge and ovulation
D.       
maintains the corpus luteum
E.        
none of the above
Question 12.
Lead-in
What is the main effect of AMH on FSH within the ovary?
Option List
A.       
it acts to increase the effect of FSH
B.       
it acts synergistically with FSH
C.       
it acts to decrease the effect of FSH
D.       
it blocks the effect of FSH
E.        
none of the above
Question 13.
Lead-in
When is the best time to measure AMH in a woman whose menstrual cycles are 28 days long?
Option List
A.       
days 1 – 5
B.       
days 6 – 10
C.       
days 11 – 15
D.       
about day 21
E.        
none of the above
Question 14.
Lead-in
What is the significance of low AMH levels?
Option List
A.       
indicative of reduced AFP
B.       
indicative of reduced AFP and ovarian reserve
C.       
indicative of hyperprolactinaemia
D.       
indicative of PCOS
E.        
indicative of POF
Question 15.
Lead-in
What is the significance of raised AMH levels?
Option List
A.       
indicative of increased AFP and ovarian reserve
B.       
indicative of reduced AFP and ovarian reserve
C.       
indicative of hyperprolactinaemia
D.       
indicative of PCOS
E.        
indicative of POF
Question 16.
Lead-in
What happens to AMH levels in pregnancy?
Option List
A.       
levels fall with conception due to follicular suppression and become normal with the return of ovulation after delivery
B.       
levels remain normal until about 12 weeks, then decline, returning to normal in the early puerperium
C.       
levels remain normal until about 20 weeks, then decline, returning to normal in the early puerperium
D.       
levels remain normal until about 12 weeks, then decline, returning to normal with the return of ovulation after delivery
E.        
none of the above
Question 17.
Lead-in
A woman takes a COC for 3 months. What is the likely effect on her AMH levels?
Option List
A.       
no significant effect
B.       
reversible reduction
C.       
irreversible reduction
D.       
reduction to undetectable levels
E.        
none of the above
Question 18.
Lead-in
A woman takes a COC for 18 months. What is the likely effect on her AMH levels?
Option List
A.       
no significant effect
B.       
reversible reduction
C.       
irreversible reduction
D.       
reduction to undetectable levels
E.        
none of the above
Question 19.
Lead-in
A woman uses a GnRHA for 3 months. What is the likely effect on her AMH levels?
Option List
A.       
no significant effect
B.       
reversible reduction
C.       
irreversible reduction
D.       
reduction to undetectable levels
E.        
none of the above
Question 20.
Lead-in
A woman uses a GnRHA for 18 months. What is the likely effect on her AMH levels?
Option List
A.       
no significant effect
B.       
reversible reduction
C.       
irreversible reduction
D.       
reduction to undetectable levels
E.        
none of the above
Question 21.
Lead-in
Which of the following statements is correct?
Option List
A.       
ART is futile and should be declined in women with AMH levels < 0.1 mcg/l
B.       
ART is futile and should be declined in women with AMH levels < 0.5 mcg/l
C.       
ART is futile and should be declined in women with AMH levels < 1 mcg/l
D.       
ART is futile and should be declined in women with AMH levels < 5 mcg/l
E.        
none of the above
Question 22.
Lead-in
Which, if any, of the following statements is the most accurate in relation to AMH as a marker for ovarian reserve?
Statements
A.       
AMH is equivalent to AFC as a marker for ovarian reserve
B.       
AMH is inferior to AFC as a marker for ovarian reserve
C.       
AMH is superior to AFC as a marker for ovarian reserve
D.       
AMH is inferior to FSH & inhibin B assay as a marker for primordial follicle numbers
E.        
AMH is superior to FSH & inhibin B assay as a marker for primordial follicle numbers
Question 23.
Lead-in
Which, if any, of the following statements is true in relation to reduced ovarian reserve?
Statements
A.       
AFC <10 from both ovaries is indicative
B.       
day 2 FSH <10 u/l is indicative
C.       
ovarian volume <10 cm3 is indicative
D.       
AFC and ovarian volume are accurate markers
E.        
↓ AMH levels are indicative
Question 24.
Lead-in
Which of following statements is true about predicting the age at the menopause?
Option List
A.       
FSH >30 u/l in the early follicular phase is the most useful predictor
B.       
pre-auricular dermal elasticity is the most useful predictor
C.       
the woman’s mother’s age at the menopause is the most useful predictor
D.       
the AMH level is the most useful predictor
E.        
the AMH level in conjunction with the woman’s age is the most useful predictor
Question 25.
Lead-in
Which of the following statements are true of AMH levels and response to fertility treatment?
Statements                                                                    
A.       
AMH levels are strong indicators of the quantitative response to COS
B.       
AMH levels help with tailoring COS protocols to the individual
C.       
about 10% of women have a poor response to COS
D.       
high AMH levels justify the use of lower doses of FSH
E.        
AMH levels are equivalent to basal FSH & inhibin as predictors of quantitative response to COS
Question 26.
Lead-in
Which of the following statements are true in relation to the pre-antral and antral follicles?
Statements
A.       
antrum means “door” or “entrance”
B.       
“pre-antral” and “primordial” describe the same follicles
C.       
pre-antral follicles show separate granulosa and luteal layers
D.       
pre-antral follicles are readily seen on ultrasound
E.        
antral follicles have a fluid-filled cavity
Question 27.
Lead-in
Which of the following statements are true about the incidence of OHSS?
Statements
A.       
the incidence varies with the type of ovarian stimulation used
B.       
mild OHSS occurs in about 30% of conventional IVF cycles
C.       
moderate / severe OHSS occurs in about 1% of conventional IVF cycles
D.       
about 0.3% of women need hospitalisation for OHSS after IVF
E.        
OHSS does not occur with clomiphene use
Question 28.
Lead-in
Which of the following statements are true?
Statements
A.       
basal AMH levels are increased in PCOS
B.       
high basal levels of AMH are linked to an ↑ risk of OHSS with ovarian stimulation
C.       
low basal levels of AMH are linked to an ↑ risk of OHSS with ovarian stimulation
D.       
↑ BMI is linked to an ↑ risk of OHSS with ovarian stimulation
E.        
older age is linked to an ↑ risk of OHSS with ovarian stimulation
Option List
1
A + B + D + E
2
A + C + D + E
3
A + B + D
4
A + B + E
5
A + C + D
Question 29.
Lead-in
Which of the following statements are true?
Statements
A.       
there is evidence of a +ve link between AMH levels and pregnancy rates
B.       
there is evidence of a –ve link between AMH levels and pregnancy rates
C.       
AMH levels are a practical means of predicting pregnancy rates
D.       
AMH levels are best used with BMI in predicting pregnancy rates
E.        
AMH levels are best used with FSH levels in predicting pregnancy rates
Question 30.
Lead-in
Which of the following statements are true?
Option list
A.       
PCOS is associated with an increased basal AMH level
B.       
PCOS is associated with a decreased basal AMH level
C.       
elevated AMH levels are included in the diagnostic criteria for PCOS
D.       
reduced AMH levels are included in the diagnostic criteria for PCOS
E.        
PCOS-associated increase in antral follicle numbers explains the ↑ AMH levels
Question 31.
Lead-in
Bhide et al say that women with PCOS can be sub-divided into two groups which do no overlap on the basis of AMH levels. Which of the following statements is true?
Statements
A.       
Group 1 is linked to high AMH levels, high androgen levels, insensitivity to insulin and anovulation
B.       
Group 1 is linked to lower AMH levels, high androgen levels, insensitivity to insulin and anovulation
C.       
Group 2 is linked to high AMH levels, lower androgen levels, better sensitivity to insulin and anovulation
D.       
Group 2 is linked to lower AMH levels, lower androgen levels, better sensitivity to insulin and ovulation
E.        
None of the above

58.   EMQ. Kisspeptin.
Lead in.
Pick the best answer from the list below about kisspeptin.
Option list.
A
is a pheromone released by the salivary glands during passionate embraces
B
is a digestive enzyme released by the salivary glands during passionate embraces
C
is a digestive enzyme found in human carnivores but not vegetarians
D
is thought necessary for trophoblastic invasion and low levels have been linked to miscarriage, recurrent miscarriage and ↑ risk of PET
E
is named after “Kisses” chocolate
F
does not exist and this question is a very poor joke by someone who should know better

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