26th. May 2022

 

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11	SBA. Androgen insensitivity syndrome
12	EMQ. Montgomery & consent
13	EMQ. Galactosaemia
14	SBA. Pertussis
15	EMQ. Phenylketonuria
16	EMQ. Maternal Mortality definitions

 

10.   SBA. Androgen insensitivity syndrome.

Abbreviations.

AIS:             androgen insensitivity syndrome

Question 1. What is the estimated prevalence of AIS?

Option List

A.	2-5 per 100,000 boys at birth
B.	5-10 per 100,000 girls at birth
C.	2-5 per 100,000 genetic males at birth
D.	5-10 per 100,000 genetic females at birth
E.	none of the above.

Question 2. Which of the following sub-types of AIS do not exist? There may be > 1 answer.

Sub-types

1.	complete AIS
2.	incomplete AIS
3.	mild AIS
4.	partial AIS
5.	total AIS

Option List

A.	1
B.	2
C.	3
D.	4
E.	5
F.	1 + 3
G.	2 + 3
H.	2 + 5
I.	3 + 5
J.	4 + 5

Question 3. How common is partial AIS?

Option List

A.	at least as common as complete AIS
B.	at least as common as total AIS
C.	less common than mild AIS
D.	as common as incomplete AIS
E.	none of the above.

Question 4. How common is incomplete AIS?

Option List

A.	at least as common as complete AIS
B.	at least as common as total AIS
C.	less common than mild AIS
D.	as common as partial AIS
E.	none of the above.

Question 5. How common is mild AIS?

Option List

A.	at least as common as complete AIS
B.	at least as common as total AIS
C.	less common than complete AIS
D.	as common as partial AIS
E.	none of the above.

Question 6. No more prevalence!! What is the mode of inheritance of AIS?

Option List

A.	autosomal dominant
B.	autosomal recessive
C.	X-linked dominant
D.	X-linked recessive
E.	mitochondrial

Question 7. What proportion of AIS is due to new mutations?

Option List

A.	0%
B.	1 – 20%
C.	21 – 40%
D.	41-60%
E.	61-80%

Question 8. Which gene is involved in AIS?

Option List

A.	androgen receptor gene
B.	aromatase receptor gene
C.	androstenedione gene
D.	oestrogen receptor gene
E.	none of the above

Question 9. How many mutations have been described of the gene which is involved in AIS?

Option List

A.	0-10
B.	11-100
C.	101-200
D.	201-300
E.	>300

Question 10. Which is the most common clinical presentation in AIS?

Option List

A.	ambiguous genitalia
B.	precocious puberty
C.	premature menopause
D.	primary amenorrhoea
E.	secondary amenorrhoea

Question 11. Which of the following are more common in AIS?

Option List

A.	anlagen
B.	coarctation of the aorta
C.	“coast of Maine” pigmentation pattern
D.	renal tract anomalies
E.	none of the above.

Question 12. A woman of 20 is found to have AIS. She has a pre-pubertal sister. What is the chance

 that the sister also has AIS, assuming that the condition is not due to a new mutation in the elder sister?

Option List

A.	1 in 1
B.	1 in 2
C.	1 in 4
D.	1 in 8
E.	1 in 16

Question 13. What is the risk of the gonads becoming malignant in AIS?

Option List

A.	10%
B.	20%
C.	30%
D.	> 30%
E.	accurate risk not known

Question 14. Which, if any, of the following are true about the androgen receptor gene (ARG)?

Option List

A	achondroplasia is linked to mutations of the ARG
B	alopecia areata is linked to mutations of the ARG
C	benign prostatic hyperplasia is linked to mutations of the ARG
D	diabetes is linked to mutations of the ARG
E	spinal-bulbar muscular atrophy is linked to mutations of the ARG
F	none of the above is linked to mutations of the ARG

Question 15. Which, if any, of the following are androgen receptor antagonists?

Option List

A	aspirin
B	cannabis
C	cimetidine
D	cyproterone acetate
E	flutamide
F	spironolactone

 

11.   EMQ. Montgomery & consent.

Abbreviations.

BMA:       British Medical Association.

GMC:       General Medical Council.

Question 1.       Which, if any, of the following statements is most accurate?

Lead-in

A	The Montgomery ruling largely replaces the Bolam ruling
B	The Montgomery ruling largely replaces the Chester ruling
C	The Montgomery ruling largely replaces the Sidaway ruling
D	The Montgomery ruling is being contested in the European Court by the GMC as it infringes the rights of doctors
E	The Montgomery ruling is being contested in the European Court by the BMA as it infringes the rights of doctors

Question 2.            Which, if any, of the following statements are true? This is not a true EMQ as > 1 of the answers may be correct.

Lead-in

A	the level of risk, however small, must be disclosed if a patient requests it
B	the level of risk of damage from a procedure need not be disclosed if < 1%
C	the level of risk of damage from a procedure need not be disclosed if < 10%
D	a material risk is one that would be reflected in damages > £100,000 if negligence were proved in court
E	a material risk is one that would be reflected in damages > £1,000,000 if negligence were proved in court
F	a material risk is one that involves anatomical damage, not emotional or psychological
G	a material risk is one that a reasonable person in the patient’s situation would be likely to regards as significant

 

12.   EMQ. Galactosaemia.

Abbreviations.

GA:             galactose

GAA:           galactosaemia

GALT:         galactose-1-phosphate uridylyltransferase

Scenario 1.        What is galactosemia? There is no option list.

Scenario 2.        What is the mode of inheritance? There is no option list.

Scenario 3.        Which of the following is the most common cause of galactosemia in Caucasians?

Option list.

A	mutation of the GALE gene
B	mutation of the GALF gene
C	mutation of the GALK gene
D	mutation of the GALk1 gene
E	mutation of the GALT gene

Scenario 4.        What is the mutation which causes Classical Galactosaemia?

Option list.

A	Q188L
B	Q188M
C	Q188R
D	R188L
E	R188M
F	R188R
G	None of the above

Scenario 5.        What is the Duarte mutation? There is no option list.

Scenario 6.        What are the main sources of galactose? There is no option list.

Scenario 7.        What is the approximate prevalence of galactosemia? There is no option list.

Answer. GHR says: 1 in 30,000 to 1 in 60,000.

Scenario 8.        Which of the following groups has the highest prevalence of galactosaemia?

Option list.

A	Armenians
B	Ashkenazi Jews
C	French absinthe drinkers
D	Irish campers
E	Irish travellers
F	Masai
G	Scottish campers
H	None of the above

Scenario 9.             Which is the most common mutation in the group with the highest incidence of galactosemia? There is no option list.

Scenario 10.     Which, if any, of the following are linked to untreated GAA in the newborn?

Option list.

A	­ risk of coagulation problems
B	­ risk of congenital hypothyroidism
C	­ risk of diabetes
D	­ risk of diarrhoea
E	­ risk of failure to thrive
F	­ risk of liver failure
G	­ risk of renal failure
H	­ risk of staphylococcal infection

Scenario 11.          What are the main problems associated with non-treatment of galactosaemia in adults? There is no option list.

Scenario 12.          Which, if any, of the following statements are true in relation to the effects of a galactose-reduced diet (GRD) on long-term complications (LTCs)?

Option list.

A	a GRD has a major protective effect on LTCs, but only if started within 2 weeks of birth
B	a GRD has a major protective effect on LTCs, but only if started within 12 weeks of birth
C	a GRD has a major protective effect on LTCs, but only if followed meticulously
D	a GRD has a major protective effect on LTCs, but only if started within 2 weeks of birth and continued for life
E	a GRD has a major protective effect on LTCs, but only if started within 2 weeks of birth and continued for life
F	none of the above

Scenario 13.          Is screening for galactosaemia included in the UK neonatal screening programme? If not, why not?

 

13. SBA. Pertussis.

Abbreviations.

JCVI:                   Joint Committee on Vaccination and Immunisation .

PIPP:                   pertussis immunisation programme for pregnancy.

Question  1.     Why is pertussis of current concern in obstetrics?

Option List

A	Research has linked pertussis in the 1st. trimester to ↑ 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.     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.          Which, if any, of the following statements are 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 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

Question  4.          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.     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.     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.          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.     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.          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.       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.       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.       Which of the following best describe the DOH’s advice about pertussis? This is not a true SBA as there may be > 1 connect answer.

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 permanently

Question  13.       Which, if any, of the following statements is true in relation to average annual number of deaths due to pertussis in the years before routine 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.  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.       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.       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.       A pregnant woman misses out on vaccination as part of the PIPP. 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 hate this subject now

 

14.   EMQ. Phenylketonuria.

Abbreviations.

BH₄:            tetrahydrobiopterin.

BH₄D:         tetrahydrobiopterin deficiency.

HPAA:        hyperphenylalaninaemia.

IUGR:         intrauterine growth retardation.

PA:              phenylalanine.

PAH:           phenylalanine hydroxylase.

PAHD:        phenylalanine hydroxylase deficiency.

PARD:         phenylalanine-restricted diet.

Pgvla:         pegvaliase

PKU:           phenylketonuria  .

PPP:            pregnancy prevention programme.

Sapro:        sapropterin

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

 

Question 1.            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.            Which, if any, of the following statements are true about hyperphenylalaninaemia? This is not a true EMQ as more than one answer may be correct.

Option List

A	it blocks growth hormone
B	it destroys astrocyte miosis
C	it disrupts folic acid activity
D	it enhances vitamin A activity
E	it interferes with myelin synthesis
F	it negates the effects of vitamin C
G	nobody knows, nobody cares; especially me

Question 6. How is PKU inherited? Use the option list.

Question 7. Which chromosome houses the gene related to PKU transmission?

Question 8. How many mutations of the gene related to PKU have so far been identified?

Question 9. Is a person with PKU likely to have one or two mutations of the PKU gene?

Question 10.        What is BH4?

Question 11.        What is pegvaliase?

Question 12.        What is the approximate prevalence of PKU in Caucasians?

Question 13.        What is the approximate prevalence of PKU carrier status in Caucasians?

Question 14.        The prevalence of PKU varies between ethnic groups.

Match each of the following ethnic groups to the closest prevalence given in the option list.

Question 15.        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 16.        Are fetal PA levels higher or lower than maternal?

Question 17.        Which, if any, of the following  are true in relation to the maternal PKU syndrome? This is not a true EMQ as there may be more than correct answer.

Option list.

A	asymptomatic bacteruria is more common
B	cholestasis of pregnancy is more common
C	early onset gestational hypertension is more common
D	eczema is more common
E	gallstones are more common
F	miscarriage is more common
G	MPKUS is usually due to non-adherence to a low phenylalanine diet
H	porphyria is more common
I	reversible posterior cerebral syndrome is more common
J	urinary tract urea stones are more common
K	none of the above

Question 18.        What are the main consequences for the offspring of untreated maternal PKU?

Question 19.        Is neonatal screening for PKU routine in the UK?

Question 20.        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!

Question 21.         What conditions are covered in the routine neonatal ‘heelprick’ screening test?

Question 22.        Is neonatal screening for PKU still done using the bacterial inhibition method? If not, what method is used? There is no option list.

Question 23.        What is the main treatment of PKU and what are its problems?

Question 24.        How long should the main treatment of PKU be continued and why?

Question 25.        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 26.        Which if any of the following statements are true about screening for PKU and its effects in the neonate born to a woman with PKU ?

Option list.

A	routine bloodspot screening alone is required
B	the neonate should be examined by a paediatrician for signs of PKU
C	the baby should have developmental assessment, even if it does not have PKU
D	an ultrasound scan should be done because of the increased risk of developmental dysplasia of the hip
E	the baby should be started on a low PA diet until all assessments are complete
F	none of the above.

Question 27.        Is breast-feeding advisable for women with PKU?

Question 28.        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.

Option List

A	it binds PA to circulating plasma proteins, reducing its free levels
B	it increases hepatic metabolism of PAH.
C	it increases renal excretion of PA
D	it is a co-factor for PAH, increasing its efficacy in reducing PA levels
E	it is phenylalanine ammonia lyase, capable of breaking down PA
F	it is a synthetic PAH enzyme
G	it reduces absorption of PA from the small bowel

 

TOG CPD questions. These are open-access, so reproduced here.

Regarding phenylketonuria (PKU):

1.        it is a deficiency of the amino acid phenylalanine (Phe).                                True  False

2.        it is an X-linked recessive inherited metabolic disease.                                True  False

3.        it results in a deficiency in the amino acid tyrosine.                                True  False

4.        it is treated with a low-phenylalanine restricted diet.                                True  False

5.        the incidence is approximately 1:1000.                                                   True  False

6.        the Newborn Screening Programme has been a great success in the diagnosis and management of children with PKU.                                                                      True  False

7.        neonates with fetal alcohol syndrome and PKU are clinically difficult to distinguish at birth.                                                                                                             True  False

8.        in utero exposure to very high levels of phenylalanine results in reversible neurological damage to the fetus.                                                                                        True  False

9.        pregnancy outcome is improved substantially when treatment results in low maternal phenylalanine concentrations ideally before conception.                               True  False

10.      oral methods of contraception should be switched to barrier methods at least 12 months before conception.                                                                                        True  False

11.      the risk of congenital heart defects is estimated to be 7–10%.                      True  False

12.      it is an indication for early delivery by caesarean section.                               True  False

13.      neonates born to mothers with PKU should be offered screening for PKU as per the routine national screening programme.                                                                    True  False

14.      breastfeeding is contraindicated in women with PKU.                               True  False

With regard to the biochemistry of PKU:

15.      Phe is passively transported across the placenta.                                 True  False

16.      fetal Phe levels are approximately 1.25-2.5 times > than maternal levels.   True  False

Children born to women with PKU:

17.      tend to have blue eyes.                                                                             True  False

18.      are fair skinned.                                                                                          True  False

With regard to the effect of high Phe levels on loss of IQ or behavioural changes:

19.      these changes are reversible in utero.                                                     True  False

20.      they are reversible with resumption of diet deficient of Phe.                       True  False

 

15.   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.

AFE:                    Amniotic Fluid Embolism.

APH:                   Antepartum haemorrhage.

PPH:                   Postpartum haemorrhage.

SUDEP:               Sudden Unexplained Death in Epilepsy. 

 

Question 1.            What is a Maternal Death?

Question 2.            Which categories are included in the definition of MD?  >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?

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 chickenpox at 30 weeks’ gestation. What kind of death is it?

Question 7.            A woman dies of sepsis secondary to pyelonephritis at 20 weeks’ gestation. What kind of death is it?

Question 8.            A woman dies from sepsis two weeks after C section. The sepsis was due to uterine infection that started as chorioamnionitis. What kind of death is it?

Question 9.            A woman dies from hepatitis C at 40 weeks’ gestation. The infection was transmitted sexually. What kind of death is it?

Question 10.        A woman dies from suicide at 10 weeks’ gestation. What kind of death is it?

Question 11.        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 12.        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 13.        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 14.        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 15.        What is a “maternity”.

Question 16.        What is the definition of the Maternal Mortality Rate?

Question 17.        What is the Maternal Mortality Ratio?

Question 18.        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 19.        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 20.        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 her abdomen, rupturing her spleen and provoking placental abruption. She dies of haemorrhage, mostly from the abruption. What kind of death is it?

Question 21.        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 22.        Could a maternal death from malignancy be classified as “direct”?

Question 23.        Could a maternal death from malignancy be classified as “Indirect”?

Question 24.        Could a maternal death from malignancy be classified as “Coincidental”?

Question 25.        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 26.        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?