Tutorial 30 August 2021

 

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44	Talk. Neonatal jaundice
45	SBA. Ospemifene
46	EMQ. Phenylketonuria
47	EMQ. Mycoplasma genitalium

 44.         Talk. Neonatal jaundice.

I gave this talk earlier in the year, but need to do it again for those who joined since. Apologies to those who heard it before. It comes up in the exam and is not in the standard O&G sources.

 45.         SBA. Ospemifene.

Abbreviations.

CEEBZA:     conjugated equine oestrogen/bazedoxifene.

CYP:            cytochrome P450 enzyme.

DVT:           deep vein thrombosis.

EMAA:       Euproean Medicines Authority’s authorisation of ospemifene.

ER:              oestrogen receptor.

GSOM:       Genitourinary syndrome of the menopause.

SERM:        selective oestrogen receptor modulator.

VTE:           venous thrombo-embolism.

Question 1.

What type of drug is ospemifene?

Option List

A	GnRH analogue
B	selective androgen receptor modulator
C	selective oestrogen receptor modulator
D	selective progestogen receptor modulator
E	selective serotonin reuptake inhibitor antagonist

Question 2.

What conditions is it licensed for in the UK? This is not a true SBA as there may be > 1 correct answer.

Option List

A	genito-urinary syndrome of the menopause
B	oligomenorrhoea
C	oligospermia
D	osteoporosis
E	vulvo-vaginal atrophy

Question 3.

What is its effect on bone ERs?

Option List

A	agonist
B	antagonist
C	unknown

Question 4.

Lead-in

Which, of the following statements is most accurate about the use of ospemifene for women who have had breast cancer or at increased risk of being affected by it?

Option List

A	it is an agonist for breast ERs and is contraindicated
B	it is an antagonist for breast ERs and its use is safe
C	there is insufficient data to be certain of its risks

Question 5.

What is its effect on endometrial ERs?

Option List

A	it has a strong agonist effect
B	it has a weak agonist effect
C	it has a strong antagonist effect
D	it has a weak ant agonist effect
E	its effect is unknown

Question 6.

What is its effect on DVT risk?

Option List

A	the risk is decreased
B	the risk is increased
C	the risk is unknown

Question 7.

Which, if any, of the following statements are true? This is not a true SBA as there may be > 1 correct answer.

A	it is mainly excreted in urine
B	it is metabolised by hepatic CYPs
C	it should not be used with acyclovir
D	it should not be used with fluconazole
E	it should not be used with ketoconazole
F	it should not be used with metformin
G	it should not be used with oestrogen
H	it should not be used with other SERMS

 

46.         EMQ. Phenylketonuria.

Abbreviations.

PA:     phenylalanine.

PAH:   phenylalanine hydroxylase.

PKU:   phenylketonuria.

Tyr:    tyrosine.

Option list.

A	autosomal dominant
B	autosomal recessive
C	X-linked dominant
D	X-linked recessive
E	1 in 100,000
F	1 in 50,000
G	1 in 10,000
H	1 in 5,000
I	deficiency in phenylalanine hydroxylase
J	deficiency in phenylalanine oxidase
K	deficiency in phenylalanine transferase
L	deficiency in phenylketone hydroxylase
M	deficiency in phenylketone oxidase
N	raised PA levels
O	reduced PA levels
P	raised tyrosine levels
Q	reduced tyrosine levels
R	normal tyrosine levels
S	No
T	Yes
U	unknown

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 is 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 relevant 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.

Option List

A	1 in 1,000
B	1 in 2,500
C	1 in 5,000
D	1 in 10,000
E	1 in 100,000
F	1 in 150,000
G	1 in 200,000
H	1 in 1,000,000

 

Ethnic group	Prevalence
Turkish	1 in 2,600
Irish	1 in 4,500
Caucasian	1 in 10,000
East Asian	1 in 10,000
Japanese	1 in 143,000
Finnish	1 in 200,000

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 PKU levels higher or lower than maternal? There is no option list.

Question 17.         

Which, if any, of the following  are true in relation to the maternal phenylketonuria 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 PKU in the mother?

Question 19.         

Is screening for PKU a routine part of the neonatal screen 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 included in the routine neonatal ‘heelprick’ screening test?

Question 22.         

Is neonatal screening for PKU still done using Guthrie’s 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 problems are associated with it? There is no option list.

Question 24.         

How long should the main treatment of PKU be continued and why? There is no option list.

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

 

47.         EMQ. Mycoplasma genitalium.

Many of the questions are not true EMQs as they have more than one correct answer. I have tried to include all the facts I think might feature in the exam and packing more than one into a question reduces the total number of questions and makes the document a bit more manageable. It also reduces the amount of typing I have to do.

Abbreviations.

BASSH:         British Association for Sexual Health and HIV.

BASHHMG:  British Association for Sexual Health and HIV’s “National guideline for the management of infection with Mycoplasma genitalium”. 2018

MG:               Mycoplasma genitalium.

NHSCS:         NHS Cervical Screening Programme

Scenario 1.              

Which, if any, of the following statements are true in relation to MG? This is not a true EMQ as there may be more than one correct answer.

Option list.

A	MG was first isolated in 2001
B	MG was first isolated from men with non-gonococcal urethritis (NGU)
C	MG belongs to the Cutemollies class
D	MG is the smallest known yeast with the ability to self-replicate
E	MG is the smallest known bacterium with the ability to self-replicate
F	MG has an unusual, double-layered cell wall
G	MG has an unusual protrusion at one end
H	MG’s protrusion enables it to adhere to epithelial cells
I	MG’s protrusion enables it to invade epithelial cells
J	MG is best seen on a Gram stain

Scenario 2.              

Which, if any, of the following statements are true in relation to Mycoplasmas?

Option list.

A	are the largest known bacteria
B	have no cell wall
C	have no nuclei
D	are resistant to ß-lactam antibiotics
E	are resistant to sulphonamides
F	colonies show a ‘scrambled egg’ appearance on culture on agar
G	particularly affect mucosal surfaces

Scenario 3.              

Which, if any, of the following statements are true in relation to Mg?

Option list.

A	when the organism was originally found, culture took 50 days
B	Mg is facetious
C	Mg is a facultative aerobe
D	Mg is a facultative anaerobe
E	Mg is a facultative aerobe & anaerobe
F	Mg is fastidious

Scenario 4.              

Which, if any, of the following are true in relation to the approximate prevalence of MG?

Option list.

A	it is ~ 0.1%
B	it is ~ 1.0%
C	it is ~ 5.0%
D	it is ~ 5-10%
E	it is > 10%
F	none of the above

Scenario 5.              

Which, if any, of the following is true in relation to screening for MG? This is a true EMQ with only one correct answer.

Option list.

A	screening for MG is now included in the NCSP
B	screening for MG is now offered as part of the NHSCS
C	screening should be offered to all sexually active women < 30 years old
D	screening should only be offered to those with symptoms suggestive of infection
E	screening should be offered to all partners of those with MG infection
F	none of the above

Scenario 6.              

Which, if any, of the following are included in BASHHMG as risk factors for infection with MG?

Option list.

A	Cigarette smoking
B	Multiple dancing partners
C	Multiple sexual partners
D	Non-white ethnicity
E	Younger age
F	None of the above

Scenario 7.              

Which of the following statements is true in relation to MG and co-infection with other organisms?

Option list.

A	MG excretes bactericidal toxins and co-infection is rare
B	MG co-infection is most often with chlamydia
C	MG co-infection is most often with E. coli
D	MG co-infection is most often with HIV
E	MG co-infection is most often with TB
F	None of the above

Scenario 8.              

Which of the following statements is true in relation to MG and men?

Option list.

A	It is the most common cause of NGU
B	It is the most common cause of epididymitis
C	It is the most common cause of prostatitis
D	It is a well-recognised cause of male sub-fertility
E	Most men with MG infection are asymptomatic
E	None of the above

Scenario 9.              

Which, if any, of the following statements are true in relation to MG and women?

Option list.

A	MG is linked to an ↑ risk of cervicitis
B	MG is linked to an ↑ risk of endometritis
C	MG is linked to an ↑ risk of female infertility
D	MG is linked to an ↑ risk of miscarriage
E	MG is linked to an ↑ risk of otitis media
F	MG is linked to an ↑ risk of pelvic inflammatory disease
G	MG is linked to an ↑ risk of postcoital bleeding
H	MG is linked to an ↑ risk of postmenopausal bleeding
I	MG is linked to an ↑ risk of preterm birth
J	MG is linked to an ↑ risk of damage to Fallopian tube cilia
K	MG is linked to an ↑ risk of puerperal psychosis
L	MG is linked to an ↑ risk of puerperal sepsis
M	Most infected women are asymptomatic
N	None of the above

Scenario 10.           

Which, if any, of the following statements are true in relation to current concerns about Mg?

Option list.

A	It could become a ‘superbug’, resistant to most antibiotics, within a decade
B	Infection is often misdiagnosed as chlamydia with ↑ risk of antibiotic resistance
C	‘superbug’ status would be likely to lead to an ↑ in renal failure
D	‘superbug’ status would be likely to lead to an ↑ in female infertility
E	‘superbug’ status would be likely to lead to an ↑ in male infertility

Scenario 11.           

Which, if any, of the following are used in the recommended test for MG infection in women?

Option list.

A	blood testing for MG IgG
B	blood testing for MG IgM
C	cervical smears checked microscopically for the diagnostic intracellular inclusion bodies
D	culture and sensitivity of cervical swab specimens using MG-specific culture medium
E	culture and sensitivity of 1st. void MSSU using MG-specific culture medium
F	culture and sensitivity of vaginal swab specimens using MG-specific culture medium
G	NAATs that detect the MG G-antigen
H	NAATs that detect MG DNA
I	NAATs that detect MG RNA
J	serum testing for MG-specific antigen
K	vaginal swabs taken by the woman
L	none of the above

Scenario 12.           

Which, if any, of the following statements are true in relation to testing for antibiotic resistance after initial tests are +ve for MG?

Option list.

A	test for resistance to cephalosporins
B	test for resistance to macrolides
C	test for resistance to penicillin
D	test for resistance to quinolones
E	test for resistance to macrolides
F	test for resistance to streptomycin
F	test for resistance to sulphonamides
F	test for resistance to tetracyclines
G	None of the above

Scenario 13.           

Which, if any, of the following statements are true in relation to estimates of antibiotic resistance in current strains of MG in the UK?

Option list.

A	20% are resistant to cephalosporins
B	40% are resistant to macrolides
C	50% are resistant to penicillin
D	50% are resistant to quinolones
E	10% are resistant to streptomycin
F	90% are resistant to sulphonamides
F	40% are resistant to tetracyclines
F	None of the above

Scenario 14.           

Which, if any, of the following is BASHHMG’s recommended 1^st. line treatment of uncomplicated MG?

Option list.

A	azithromycin 1 gram daily for 7 days
B	doxycycline 100 mg twice daily for 7 days
C	doxycycline 100 mg twice daily for 10 days
D	doxycycline 100 mg twice daily for 7 days
E	doxycycline 100 mg twice daily for 7 days then azithromycin 1 gram daily for 2 days
F	moxifloxacin 400mg orally once daily for 7 days
G	moxifloxacin 400mg orally once daily for 10 days
H	none of the above

Scenario 15.           

Lead-in

Which, if any, of the following is BASHHMG’s recommended 1^st. line treatment of complicated MG?

Option list.

A	doxycycline 100 mg twice daily for 10 days
B	doxycycline 100 mg twice daily for 14 days
C	moxifloxacin 400mg orally once daily for 10 days
D	moxifloxacin 400mg orally once daily for 14 days
E	none of the above

Scenario 16.           

Lead-in

This is not an EMQ or SBA!

Fill in the gaps in the table below, using option list.

Option list.

A	aminoglycoside
B	cephalosporin
C	macrolide
D	penicillin
E	quinolone
F	tetracycline

Table.

Drug name	Category of drug
azithromycin
doxycycline
moxifloxacin

Scenario 17.           

Which, if any, of the following statements is true in relation to test of cure (TOC) after treatment of MG?

Option list.

A	TOC should be offered to everyone who has been treated for MG
B	TOC should only be offered to those who had signs of infection before treatment
C	TOC should only be offered to those who had symptoms of infection before treatment
D	TOC should only be offered to those who had signs and symptoms before treatment
E	TOC should only be offered to those who continue to have signs or symptoms two weeks or more after the start of treatment
F	none of the above

Scenario 18.           

Which, if any, of the following statements are true in relation to the timing of test of cure (TOC) after treatment of MG?

Option list.

A	TOC is best done at 3 weeks after start of treatment
B	TOC is best done at 4 weeks after start of treatment
C	TOC is best done at 5 weeks after start of treatment
D	TOC is best done at 6 weeks after start of treatment
E	TOC should not be done < 2 weeks from the start of treatment
F	TOC should not be done < 3 weeks from the start of treatment
G	TOC should not be done < 4 weeks from the start of treatment