Thursday, 24 July 2014

Tutorial 24 July 2014

Website.




14
EMQ. Cystic fibrosis.
15
EMQ. Turner’s syndrome
47
A woman attends the pre-pregnancy counselling clinic. She plans her second pregnancy in the near future. Her sister recently had a baby with Down’s syndrome.
1.  Outline and justify your agenda for the discussion.        4 marks
2.  Critically evaluate the investigations you will arrange.    4 marks
3.  Justify the key information you will include.                   12 marks
48
A 30-year-old woman with thalassaemia major attends for pre-pregnancy counselling.
1. Justify the history you will take.                       4 marks
2. Detail the investigations you will arrange.     6 marks
3. Outline the issues you will discuss in relation to risks of pregnancy.                                                                             5 marks
4 Outline the management of pregnancy in cases of thalassaemia  major.                                                                                   5 marks
49
A nulliparous woman is found to have hydrops fetalis on a routine 20 week anomaly scan.
1. List the main causes of hydrops fetalis.  12 marks.
2. Outline the key investigations.                   8 marks
50
A woman of 48 is referred with erratic vaginal bleeding for six months. She has had an intra-uterine contraceptive in place for five years. She has occasional hot flushes.
1. Justify the things you will focus on in taking her history.  6 marks
2. Justify the investigations you will perform.                          6 marks
3. Justify the advice you will give.                                               8 marks

This question is about cystic fibrosis.

To make you behave in a model fashion, there is no option list:  you have to decide the correct answer.

Scenario 1.
A woman is 8 weeks pregnant and known to be a carrier of cystic fibrosis.
Her husband is Caucasian.
What is the risk of the child having cystic fibrosis?
Scenario 2.
A healthy woman attends for pre-pregnancy counselling.
Her brother has cystic fibrosis. Her husband is Caucasian.
He has been screened for cystic fibrosis. The test was negative.
What is the risk of them having a child with cystic fibrosis?
Scenario 3.
A healthy woman is a known carrier of cystic fibrosis.
She attends for pre-pregnancy counselling. Her husband has cystic fibrosis.
What is the risk of them having a child with CF?
Scenario 4.
A healthy woman attends for pre-pregnancy counselling. Her sister has had a child with cystic fibrosis.
What is her risk of being a carrier?
Scenario 5.
A woman attends for pre-pregnancy counselling. Her mother has cystic fibrosis.
What is the risk that she is a carrier?
Scenario 6 .
A woman attends for pre-pregnancy counselling. Her mother has cystic fibrosis.
The partner’s risk of being a carrier is 1 in X.
What is the risk that she will have a child with CF?
Scenario 7.
A healthy Caucasian woman is 10 weeks pregnant.
Her husband is a known carrier of cystic fibrosis.
Which test would you arrange?
Scenario 8.
A woman attends for pre-pregnancy counselling. She has read about diagnosing CF using cffDNA from maternal blood. Is it possible to test for CF in this way?
Scenario 9.
A woman and her husband are known carriers of cystic fibrosis.
What is the risk of them having an affected child.
Scenario 10.
A woman and her husband are known carriers of cystic fibrosis.
What can they do to reduce the risk of having an affected child?
Scenario 11.
A woman and her husband are known carriers of cystic fibrosis.
Can CVS exclude an affected pregnancy?
Scenario 12.
A woman with cystic fibrosis has a normal delivery of a healthy, 3.2 kg. baby at term. She has been advised not to breastfeed because her breast milk will be protein-deficient due to malabsorption.
Is this advice correct?
Scenario 13.
A woman with cystic fibrosis has a normal delivery of a healthy, 3.2 kg. baby at term. She has been advised not to breastfeed because her breast milk will contain abnormally low levels of sodium.
Is this advice correct?


Turner’s  syndrome.

This is supposed to be an EMQ, but some of the questions are MCQ with “True” and “False” answerst. It includes everything I think you might be asked about Turner’s.

Option list.
There is no option list.

Questions.

1.         TS is due to 45XO.                                                                  
2.         What is the incidence of TS?                                             
3.         The incidence of TS rises with maternal age?             .
4.         Most cases of TS are due to loss of a paternal chromosome. 
5.         How common in 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                                                        
10.     ↑ NT is a feature of congenital heart disease           
11.     Low birth weight is a feature of TS.                                 .
12.     If TS is suspected, but the neonate’s karyotype from blood testing is normal, the diagnosis is Noonan’s syndrome.                                        .
13.     Neonates are at normal risk of developmental dysplasia of the hip. 
14.     Immune hydrops is more common in TS.                    
15.     Cystic hygroma is more common in TS.                        
16.     What is the approximate risk of 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. 
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.
24.     What % of adolescents with TS have scoliosis.           .
25.     Inverted nipples are more common in TS.                  
26.     1ry. amenorrhoea occurs in all cases.                            
27.     Adrenarche occurs at a normal time.                            
28.     Cubitus valgus is more common in TS.                          
29.     Cleft palate if a feature of TS.                                           
30.     Micrognathia is a feature of TS.                                       
31.     Abnormalities of teeth and nails are more common in TS.   
32.     Otitis media is more common in TS.                                               
33.     Intelligence is usually lower in TS, especially verbal skills.     
34.     Women with TS have higher mortality rates than other women..
35.     Oestrogen should be started on diagnosis to promote bone growth.  .
36.     Oestrogen-only HRT is appropriate for bone protection.     
37.     Women with TS have an ↑ risk of hypertension.    
38.     Women with TS have an ↑ risk of coeliac disease. 
39.     Women with TS have an increased risk of Crohn’s disease and ulcerative colitis. 
40.     Women with TS have an ↑ risk of diabetes                               
41.     Women with TS have an ↑ risk of hyperthyroidism.              
42.     Women with TS have an ↑ risk of deafness.              .
43.     Women with TS have an ↑ risk of osteoporosis.
44.     Women with TS have similar rates of red-green colour blindness to men.  
45.     Women with TS have a normal incidence of ptosis.
46.     Women with TS cannot have children.
47.     The “short stature homeobox” (SHOX) gene has been implicated in TS


Tutorial 21 July 2014

Website.
Contact us.

Only one person attended, so there was no tutorial.
The topics we would have discussed are below.

Send your answers and I'll send mine.


13
EMQ Haemophilia A. Prepregnancy counselling.
43
You are the SpR in the fertility clinic.
A couple have been referred by their General Practitioner after basic investigation of their three years of infertility. She has a 5-year-old daughter by a previous partner. The pregnancy, delivery and puerperium were normal. Her menstrual cycle is normal and a serum progesterone has confirmed ovulation.
He has never made a partner pregnant and the GP letter states that he has a low sperm count.
1. Justify the history you will take.                                4 marks
2. How do you categorise male infertility?                  4 marks
2. Justify the investigations you will arrange.             4 marks
3. Outline the management and available options.   8 marks
44
A 55-year-old woman is referred to the gynaecology clinic. A friend of the same age has recently been found to have osteopenia and has been started on a bisphosphonate drug. She wishes to discuss her risk of osteoporosis and what she can do to reduce it.
1. Discuss how her risk of osteoporosis can be assessed.                        6 marks
2. Critically evaluate the steps that can be taken to reduce her risk.  14 marks
45
With regard to cervical cancer:
1.  Critically evaluate the FIGO staging classification.       8 marks
Describe the FIGO staging.                                                  12 marks
46
A 25-year-old midwife sustains a needle-stick injury during a normal delivery and requests advice.
1. Which potential infections are of concern in needle-stick injuries? 2 marks.
2. What characteristics of needle-stick or “splash” exposure increase the risk of infection? 4 marks.
3. What history will you take? 6 marks.
4. What should be done to minimise the risks?  8 marks.

Lead-in.
The following scenarios relate to haemophilia A and pre-pregnancy counselling.
For each, select the most appropriate risk from the option list.
Pick one option from the option list.
Each option can be used once, more than once or not at all.

Scenario 1.
A nulliparous 20-year-old wishes to know the risk of her being a carrier as her father has mild haemophilia A.
Scenario 2.
A nulliparous 20-year-old wishes to know the risk of her being a carrier as her father has severe haemophilia A.
Scenario 3.
A para 3, 30-year-old wishes to know the risk of her being a carrier as her mother is a carrier.
Scenario 4.
A para 0+4, 25-year-old wishes to know the risk of her being a carrier as her sister has an affected son.
Scenario 5.
 A para 6, 40-year-old wishes to know the risk of her being a carrier as her daughter has had an affected baby.
Scenario 6.
 A nulliparous woman wishes to know the risk of a son having haemophilia as she is a carrier.
Scenario 7.
A nulliparous woman wishes to know the risk of a son having haemophilia as her husband has haemophilia A.
Scenario 8.
A nulliparous woman wishes to know the risk of a daughter being a carrier as she is a carrier.
Scenario 9.
A nulliparous woman wishes to know the risk of a daughter being a carrier as her husband has haemophilia A.
Scenario 10.
A nulliparous woman wishes to know the risk of a son having haemophilia as her paternal grandfather had haemophilia A.
Scenario 11.
A nulliparous woman wishes to know the risk of a son having haemophilia as her maternal grandfather had haemophilia A.
Scenario 12.
A nulliparous woman wishes to know the risk of a son having haemophilia as her husband’s paternal grandfather had haemophilia A.
Scenario 13.
A nulliparous woman wishes to know the risk of a son having haemophilia as her husband’s maternal grandfather had haemophilia A.
Scenario 14.
A nulliparous woman wishes to know the risk of a son having haemophilia as her mother’s brother has haemophilia A.
Scenario 15.
A nulliparous woman wishes to know her risk of being a carrier as she has read about it in a magazine. There is no family history of haemophilia A.



Option list.

A.
0 %
B.
0.1 %
C.
1 %
D.
12.5 %
E.
13.3%
F.
20 %
G.
25 %
H.
33 %
I.
50 %
J.
66.6%
K.
68 %
L.
75 %
M.
80 %
N.
90 %
O.
100 %
P.
200 %


Monday, 14 July 2014

Tutorial 14 July 2014

Website.
Contact us.



10
Maternal mortality definitions.
35
A 25-year-old primigravida attends for a routine scan and echogenic bowel is noted.
1. What is the advice of the National Screening Committee in relation to “soft markers”?                                                6 marks.
2. What conditions are linked to echogenic bowel?     6 marks.
3. Justify your management.                                           12 marks.
36
A 41-year-old woman attends for review after a normal hysteroscopy. She now wishes treatment for her incapacitating heavy periods which have not responded to medical management.
1. Outline the history you will take.                          4 marks.   
2. Outline the investigations you will consider.      4 marks.
3. Critically evaluate your advice on the available management options.                                                                         12 marks
37
With regard to breastfeeding.
a. what are the benefits of breastfeeding?                          8 marks
b. what are the contraindications to breastfeeding?         4 marks
c. what are the WHO recommendations about duration of breastfeeding?    2 marks
d. What can be done to promote breastfeeding?                6 marks
38
Critically evaluate Down’s syndrome screening.


Maternal Mortality.

Lead-in.
The following scenarios relate to maternal mortality.
Pick the option that best answers the task in each scenario from the option list.
Each option can be used once, more than once or not at all.
Option List.
Death of a woman during pregnancy and up to 6 weeks later, including accidental and incidental causes.
Death of a woman during pregnancy and up to 6 weeks later, excluding accidental and incidental causes.
Death of a woman during pregnancy and up to 52 weeks later, including accidental and incidental causes.
Death of a woman during pregnancy and up to 52 weeks later, excluding accidental and incidental causes.
A pregnancy going to 24 weeks or beyond.
A pregnancy going to 24 weeks or beyond + any pregnancy resulting in a live-birth.
Maternal deaths per 100,000 maternities.
Maternal deaths per 100,000 live births.
Direct + indirect deaths per 100,000 maternities.
Direct + indirect deaths per 100,000 live births.
Direct death.
Indirect death.
Early death.
Late death.
Extra-late death.
Fortuitous death.
Coincidental death.
Accidental death.
Maternal murder.
Not a maternal death.
Yes
No.
I have no idea.
None of the above.
Abbreviations.
MMR:   Maternal Mortality Rate.
MMRat:               Maternal Mortality Ratio.
SUDEP: Sudden Unexplained Death in Epilepsy.               

Option list.

Scenario 1.
What is a Maternal Death?
Scenario 2.
A woman dies from a ruptured ectopic pregnancy at 10 weeks’ gestation. What kind of death is it?
Scenario 3.
A woman dies from a ruptured appendix at 10 weeks’ gestation. What kind of death is it?
Scenario 4.
A woman dies from suicide at 10 weeks’ gestation. What kind of death is it?

Scenario 5.
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?
Scenario 6.
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?
Scenario 7
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?
Scenario 8
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?
Scenario 9
What is a “maternity”.
Scenario 10
What is the definition of the Maternal Mortality Rate?
Scenario 11
What is the Maternal Mortality Ratio?
Scenario 12
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?
Scenario 13
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?
Scenario 14
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 abdomen, rupturing her spleen and provoking placental abruption. She dies of haemorrhage, mostly from the abruption. What kind of death is it?
Scenario 15
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?
Scenario 16
Could a maternal death from malignancy be classified as “Direct”.
Scenario 17
Could a maternal death from malignancy be classified as “Indirect”.
Scenario 18
Could a maternal death from malignancy be classified as “Coincidental”?


Thursday, 10 July 2014

Tutorial 10 July 2014

Website.
Contact us.


10 July 2014
9
EMQ. Mental Capacity.
31
With regard to cell-free fetal DNA (cffDNA).
a. what is cffDNA?                                                4 marks
b. detail the current uses of cffDNA in the NHS.       6 marks
c. discuss the potential uses of cffDNA.                 10 marks
32
A 20-year-old woman is referred to the gynaecology clinic with a complaint of hirsutism. Critically evaluate the management.
1.  Outline the necessary facts to obtain from the history.  6 marks.
2.  Justify the investigations you would arrange.                8 marks.
3.  Outline the key aspects of the management.               6 marks.
33
Critically evaluate neonatal screening.
34
Discuss the key aspects of neonatal jaundice.
a. why it is important.                    4 marks.
b. the causes of neonatal jaundice. 8 marks.
c. the management.                       8 marks.

Mental Capacity Act 2005.

Lead-in.
The following scenarios relate to the Mental Capacity Act 2005.
Pick one option from the option list.
Each option can be used once, more than once or not at all.

Abbreviations.
CAD:      Court-appointed Deputy.
COP:      Court of Protection.
FGR:      fetal growth restriction.
LPA:       Lasting Power of Attorney.
PoA:      Power of Attorney.

Option list.

A.       
Yes
B.       
No
C.       
True
D.       
False
E.        
Does not exist
F.        
The husband
G.      
A parent
H.       
The child
I.         
the General Practitioner
J.         
the Consultant
K.       
the Registrar
L.        
The Consultant treating the patient
M.     
A Consultant not involved in treating the patient
N.      
The Medical Director
O.      
A person with Powers of Attorney
P.       
The sheriff or sheriff’s deputy
Q.      
Balance of probabilities
R.       
Beyond reasonable doubt
S.        
None of the above.

Scenario 1.
A person with LPA is normally not a family member.
Scenario 2.
A Sheriff’s Deputy is normally not a family member.
Scenario 3.
A person with PoA can consent to treatment for the patient who lacks capacity.
Scenario 4.
A Court-appointed Deputy can consent to treatment for the patient who lacks capacity, but must go back to the Court of Protection if further consent is required for additional treatment.
Scenario 5.
A person with PoA can authorise withdrawal of all care except basic care in cases of individuals with persistent vegetative states.
Scenario 6.
An advance decision can authorise withdrawal of all but basic care in cases of persistent vegetative states.
Scenario 7
A person with PoA cannot overrule an advance direction about withdrawal or withholding of life-sustaining care.
Scenario 8
A woman is seen in the antenatal clinic at 39 weeks’ gestation. Her blood pressure is 180/110 and she has +++ of proteinuria on dipstick testing. She has mild epigastric pain. A scan shows evidence of FGR with the baby on the 2nd. centile. Doppler studies of the umbilical artery are abnormal and a non-stress CTG shows loss of variability and variable decelerations. She is advised that she appears to have severe pre-eclampsia and is at risk of eclampsia and of intracranial haemorrhage. She is told of the associated risk of mortality and morbidity. She is also advised that the baby is showing evidence of severe FGR and has abnormal Doppler studies and CTG which could lead to death or hypoxic damage. She declines admission or treatment. She says she trusts in God and wishes to leave her fate and that of her baby in His hands. She is seen by a psychiatrist who assesses her as competent under the MCA and with no evidence of mental disorder. The obstetrician wants to apply to the COP for an order for compulsory treatment. Can he do this?
Scenario 9
A woman is admitted at 36 weeks’ gestation with evidence of placental abruption. She is semi-comatose and shocked. There is active bleeding and the cervical os is closed. Fetal heart activity is present but with bradycardia and decelerations. The consultant decides that Caesarean section is the best option to save her live and that of the baby. When reading the notes, the registrar comes across an advance notice drawn up by the woman and her solicitor. It states that she does not wish Caesarean section, regardless of the risk to her and the baby. The consultant tells the registrar that they can ignore it now that she is no longer competent and get on with the Caesarean section for which she will be thankful afterwards. The registrar says that the advance notice is binding. Who is correct?
Scenario 10
An 8 year old girl is admitted with abdominal pain. Appendicitis with peritonitis is diagnosed and surgery is advised. The parents decline treatment on religious grounds. Can the consultant in charge overrule the parents and give consent?