Tutorial 8 August 2022

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8^th.  August  July 2022.

45	Role-play. Complaint. Mis-filed combined Ds test report
46	EMQ. The MAGPIE trial
47	EMQ. Phenylketonuria
48	SBA.   Coeliac disease & pregnancy
49	EMQ. Asymptomatic bacteruria

 

45.   Role-play. Complaint. Mis-filed combined Ds test report.

Candidate's Instructions.

You are the SpR in the ante-natal clinic. The consultant has been called to the labour ward to help with a case of placenta accreta and you have been put in charge of the clinic.

Mrs Jones had a “combined test” at 11 weeks which gave a risk of Down’s syndrome of 1: 40. The report was filed in the notes in error by a clerk without being shown to any of the medical or midwifery staff.

She attended today for the routine 20-week scan. The ultrasonographer found the report in the notes, realised that no action had been taken, informed the patient and made arrangements for her to see you urgently. You tasks are to deal with the situation as you would in real life.

 

46.   MAGPIE Trial.

Question 1.   Which, if any, of the following is true of the Magpie trial?

Option list.

A	it compared MgSO4 with placebo in the management of eclampsia / severe PET
B	it compared MgSO4 with lytic cocktail in the management of eclampsia / severe PET
C	it compared MgSO4 with phenytoin in the management of eclampsia / severe PET
D	it compared MgSO4 with alcohol in the management of threatened premature labour
E	it compared MgSO4 with atosiban in the management of threatened premature labour
F	it compared MgSO4 with ritodrine in the management of threatened premature labour
G	it compared MgSO4 with dexamethasone in the prevention of cerebral palsy due to extreme prematurity
H	it compared MgSO4 with placebo in the prevention of cerebral palsy due to extreme prematurity
I	none of the above

Question 2.   Which if any of the following are true of the Magpie trial?

Option list.

A	it involved ~ 1,000 women
B	it involved ~ 10,000 women
C	it involved ~ 20,000 women
C	it involved > 20,000 women
D	it involved ~ 30 hospitals
E	it involved ~ 50 hospitals
F	it involved ~ 80 hospitals
G	it involved > 150 hospitals
H	it involved 5 countries
I	it involved 10 countries
J	it involved 20 countries
K	it involved 30 countries
L	it involved 50 countries
M	it involved >50 countries

Question 3.   Which if any of the following are true?

Option list.

A	almost 50% of the women were in Africa
B	almost 50% of the women were in America
C	almost 50% of the women were in Asia
D	almost 50% of the women were in Australia / New Zealand
E	almost 50% of the women were in Europe

Question 4.   Which, if any, of the following is true of the Magpie trial?

Option list.

A	cerebral palsy rates at 2 years were ↓ by the use of MgSO4 in babies born < 34 weeks
B	cerebral palsy rates at 2 years were unchanged  by the use of MgSO4 in babies born < 34 week
C	eclampsia rates were reduced by about half by the use of MgSO4
D	eclampsia rates were reduced by about half by the use of MgSO4 but only in underdeveloped countries
E	maternal mortality was significantly ↓ by the use of MgSO4
F	maternal mortality was significantly ↓ by the use of MgSO4, but only in underdeveloped countries
G	premature delivery was significantly ↓ by the use of MgSO4
H	perinatal mortality from prematurity was significantly ↓ by the use of MgSO4

 

47.   Phenylketonuria in pregnancy.

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

 

48.   Coeliac disease & pregnancy.

Abbreviations.

AGA:        anti-gliadin antibodies 

CD:          coeliac disease.

DGP:        IgG deamidated gliadin peptide.

EMA:       IgG endomysial antibodies. 

FGR:        Fetal growth restriction.

HLA:        Human leucocyte antigen.

IgA:          immunoglobulin A. 

tIgA:        total immunoglobulin A.

tTGA:       IgA tissue transglutaminase antibody.

vLBW:      very low birth weight.

vPTB:       very pre-term birth (<30/52).

Question 1. What is coeliac disease?

Option List

A.	allergy to gluten
B.	malabsorption due to large bowel inflammation
C.	an auto-immune disorder triggered by gluten sensitivity causing villous atrophy of the descending colon in individuals with a genetic predisposition
D.	an auto-immune disorder triggered by gluten sensitivity causing villous atrophy of the gastric mucosa in individuals with a genetic predisposition
E.	an auto-immune disorder triggered by gluten sensitivity causing villous atrophy of the small bowel in individuals with a genetic predisposition

Question 2. What is the prevalence of coeliac disease in women of reproductive age?

Option List

A.	0.1%
B.	0.5%
C.	1%
D.	2-5%
E.	5-10%

Question 3. Which of the following groups have an increased risk of CD?

Option List

A.	1st. degree relatives of those with CD
B.	those with type 1 diabetes
C.	those with iron deficiency anaemia
D.	those with osteoporosis
E.	those with unexplained infertility

Question 4. Which of the following are features of CD in the non-pregnant population?

Option List

A.	abdominal bloating and pain
B.	amenorrhoea
C.	anaemia
D.	recurrent miscarriage
E.	unexplained infertility

Question 5. How do pregnant women with CD present most commonly?

Option List

A	anaemia
B	failure to gain weight in pregnancy
C	intra-uterine growth retardation
D	low BMI
E	no recognised abnormality

Question 6. Which of the following commonly occur in pregnant women with CD?

Option List

A	anaemia
B	failure to gain weight in pregnancy
C	intra-uterine growth retardation
D	low BMI
E	no recognised abnormality

Question 7. How should the woman with suspected CD be investigated initially?

Option List

A.	jejunal biopsy
B.	IgA EMA
C.	IgA tTGA
D.	IgA EMA + IgA tTGA
E.	tIgA + tTGA

Question 8. Which, if any, of the following statements are true in relation to the woman due to have testing for suspected CD?

Option List

A.	continue with a diet that includes gluten ≥ once daily for at least 1 month
B.	continue with a diet that includes gluten ≥ once daily for at least 6 weeks
C.	continue with a diet with ≥ 10 gm. gluten daily for at least 1 month
D.	continue with a diet with ≥ 10 gm. gluten daily for at least 6 weeks
E.	follow a strict gluten-free diet for at least 3 months

Question 9. What advice should be given to those who have gone on to a gluten-free diet in the month before testing?

Option List

A.	the gluten-free diet may render the serological tests –ve, but not intestinal biopsy
B.	the gluten-free diet may render the intestinal biopsy –ve, but not the serological tests
C.	the gluten-free diet may render all the tests -ve
D.	if she is happy with the gluten-free diet, there is no  point in testing
E.	she is not qualified to make medical decisions and should not be so stupid on future occasions

Question 10. Which of the following conditions should make consideration of testing for CD sensible?

Option List

A.	amenorrhoea
B.	Down’s syndrome
C.	epilepsy
D.	recurrent miscarriage
E.	Turner’s syndrome
F	unexplained infertility

Question 11. What recommendation does NICE make about the information to be provided to healthcare professionals with the results of serological tests for CD?

Option List

A.	the results alone should be provided
B.	the results with the local reference values for children, adult men and adult women
C.	the results with the local and national reference values for children, adult men and adult women
D.	the results with interpretation of their meaning
E.	the results with interpretation of their meaning + recommended actions

Question 12. How is the diagnosis of CD confirmed after +ve serological testing?

Option List

A.	colonoscopy
B.	enteroscopy
C.	gastroscopy
D.	rectal biopsy
E.	small bowel biopsy

Question 13. Which skin condition is particularly associated with CD?

Option List

A.	atopic eczema
B.	dermatitis herpetiformis
C.	dermatitis multiforme
D.	dermatographia
E.	psoriasis

Question 14. Which of the following are likely to be absorbed less well than normally in women with CD?

Option List

A.	carbohydrate
B.	fat
C.	folic acid
D.	protein
E.	vitamins B12, D & K

Question 15. What is the appropriate treatment of CD?

Option List

A.	antibiotics: long-term in low-dosage
B.	azathioprine
C.	cyclophosphamide
D.	rectal steroids
E.	none of the above

Question 16. Which of the following do not contain gluten?

Option List

A.	barley
B.	oats
C.	rapeseed oil
D.	rye
E.	wheat

 

49.   Asymptomatic bacteruria.

Abbreviations.

ASB:              asymptomatic bacteriuria.

ASBIP:           ASB in pregnancy.

LE:                 leukocyte esterase.

MSU:            mid-stream specimen of urine.

Question 5.           What is the definition of ASB?

Option list.

A	> 1,000,000 colonies per mL on MSU
B	> 100,000 colonies per mL on MSU
C	> 10,000 colonies per mL on MSU
D	> 1,000 colonies per mL on MSU
E	> 1,000,000 organisms per mL on MSU
F	> 100,000 organisms per mL on MSU
G	> 10,000 organisms per mL on MSU
H	> 1,000 organisms per mL on MSU
I	none of the above

Question 6.       Which, if any of the following reflect NICE’s advice  re routine screening for ASBIP?

Option list.

A	routine screening should be offered early in pregnancy
B	screening should be by culture of a MSU
C	screening by dipstick testing for nitrites and leukocyte esterase is acceptable as an alternative to MSU screening
D	routine screening is not recommended
E	talk of urine is indelicate and ill-suited to genteel discourse so please desist

Question 7.       Which, if any of the following reflect the NSC’s advice  re  screening for ASBIP?

Option list.

A	routine screening should be offered early in pregnancy
B	screening should be by culture of a MSU
C	screening by dipstick testing for nitrites and leukocyte esterase is acceptable as an alternative to MSU screening
D	routine screening is not recommended
E	talk of urine is indelicate and ill-suited to genteel discourse

Question 8.       Which, if any, of the following are proven to be more likely in those with ASBIP?

Option list.

A	chorioamnionitis
B	cystitis
C	endometritis
D	↑ perinatal mortality
E	LBW
F	learning difficulty
G	fetal anaemia
H	maternal anaemia
I	premature birth
J	pyelonephritis
K	schizophrenia

Question 9.       What was the main justification for routine screening for ASBIP?

Option list.

A	it reduces the risk of cystitis
B	it reduces the risk of premature labour
C	it reduces the risk of IUGR
D	it reduces the risk of pyelonephritis
E	the laboratory staff like to be busy
F	none of the above.

Question 10.    Which of the following statements is correct about leukocyte esterase?

Option list.

A	LE is a sensitive indicator of UTI
B	LE derives from inflamed bladder mucosa
C	LE derives from bacteria killed by leukocytes
D	LE testing is an acceptable method of screening for ASB
E	a +ve urine LE test usually leads to testing of a MSU
F	none of the above