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Tonight's EMQ was:
Mode of inheritance.
Lead-in.
The following questions relate to the mode of inheritance.
For each question, choose the answer from the option list that best matches. Each option can be used once, more than once or not at all.
Comment.
You are expected to know a lot of basic genetics and it is hard to remember all the details. A list to go over in the days before the exam makes sense. Use this one and add anything else you can think of – and let me know of your additions so I can add them to this list. You will note that I have made a few additions since the tutorial.
List of questions.
1. achondroplasia.
2. adreno-genital syndrome.
3. Adult polycystic kidney disease.
4. androgen insensitivity syndrome.
5. Angelman syndrome.
6. Apert syndrome.
7. Becker muscular dystrophy.
8. Cavanan syndrome.
9. Charcot-Marie-Tooth disease.
10. Cri-du-chat syndrome.
11. Dandy-Walker syndrome.
12. Down’s syndrome.
13. Duchenne muscular dystrophy.
14. Edward’s syndrome.
15. Ehlers-Danlos syndrome.
16. Fitz-Hugh-Curtis syndrome
17. Fragile X syndrome.
18. Glucose-6-phosphate dehydrogenase deficiency.
19. Haemochromatosis.
20. Haemosiderosis.
21. haemophilia A:
22. haemophilia B:
23. Huntington’s disease.
24. Juvenile polycystic kidney disease.
25. Klinefelter’s syndrome.
26. Lynch syndrome (HNPCC).
27. Marfan’s syndrome.
28. Mayer-Rokitansky-Kuster-Hauser syndrome:
29. Myotonic dystrophy.
30. Neurofibromatosis.
31. Noonan syndrome.
32. Patau’s syndrome.
33. Perrault syndrome.
34. Phenyketonuria.
35. Prader-Willi
36. Potter’s syndrome.
37. Sickle cell disease.
38. Syndrome X.
39. Tay-Sach’s disease.
40. Thalassaemia.
41. Triple X syndrome.
42. Turner’s syndrome
43. Swyer’s syndrome.
44. VACTERL.
45. von Willebrand’s disease.
46. A mother has spina bifida. What is the risk of a child being affected?
47. A mother has had a child with spina bifida, what is the risk of the next child being affected? ~
48. A mother has had two children with spina bifida. What is the risk of the next child being affected?
49. A mother has grand-mal epilepsy. What is the risk of her child having epilepsy?
50. A mother and her partner both have grand-mal epilepsy. What is the risk of their child having epilepsy?
51. A mother has insulin-dependent diabetes mellitus. What is the risk of a child being affected?
52. A mother has congenital heart disease. What is the risk of a child being affected?
53. A mother takes lithium for bi-polar disorder throughout her pregnancy. What is the risk of the child having congenital heart disease?
54. A mother has a nuchal translucency scan at 11 weeks. The result is 6 mm. What is the risk of the fetus having congenital heart disease?
The essays were:
Essays 2 February 2012
A primigravid woman attends the antenatal booking clinic at 5 weeks’ gestation. She smells strongly of alcohol. She admits to consuming at least ½ bottle of vodka each day.
1. Critically evaluate the public health advice available in the UK about alcohol and pregnancy. 4 marks.
2. Critically evaluate screening for alcohol abuse in pregnancy. 4 marks.
3. Critically evaluate the risks to the fetus and child of the mother who abuses alcohol in pregnancy. 6 marks.
4. Justify the management you would arrange for this patient. 6 marks.
With regard to anti-phospholipid syndrome (APS):
1. outline how the diagnosis is made. 4 marks.
2. outline the clinical manifestations of APS. 6 marks.
3. outline the management of APS in relation to pregnancy. 10 marks.
It is Saturday morning. You are the on-call SpR for gynaecology and have been asked for help by the locum Registrar in A&E. A man has returned from Africa on a surprise visit home. On arrival he cut his finger on a kitchen knife and has attended A&E for treatment. He is accompanied by his wife. His finger has been cleaned and two sutures have been inserted. Prior to treatment he mentioned that he was found to be HIV+ve as a result of extra-marital heterosexual activity in Africa and was started on anti-retroviral therapy there. He refuses to disclose his HIV status to his wife as she would “go mad” if she were to discover his infidelity. She has asked for contraceptive advice as he was not due to return for several months and she stopped contraception when he left 3 months before. The A&E Consultant has gone out to a major road traffic accident and is not expected to be available for about an hour. The husband is not prepared to await his return. The sexually-transmitted disease STD clinic is closed and will not open until Monday. You have spoken to your Consultant who has said he doesn’t want to know and that you have to “get on with it”. Outline and justify your management.
Critically evaluate palliative treatment in gynaecological oncology.
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