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Tonight we managed an EMQ and four essays and still finished early!
I have not recorded the discussion of the EMQ, but the answer I have written is comprehensive.
Send me your version and I'll send mine.
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 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. Don’t add a load of rare syndromes – you will just end up confused. But add anything that you know has featured in the exam.
List of questions.
1. achondrogenesis.
2. achondroplasia.
3. acute fatty liver of pregnancy (AFLP).
4. adreno-genital syndrome
5. adult polycystic kidney disease.
6. androgen insensitivity syndrome.
7. albinism.
8. Angelman syndrome.
9. Apert syndrome.
10. Becker muscular dystrophy.
11. Beckwith-Wiedemann syndrome.
12. Cavanan syndrome.
13. Charcot-Marie-Tooth disease.
14. chondrodystrophy.
15. congenital adrenal hyperplasia.
16. cri-du-chat syndrome.
17. Dandy-Walker syndrome.
18. developmental dysplasia of the hip.
19. Down’s syndrome.
20. Duchenne muscular dystrophy
21. Edward’s syndrome.
22. exomphalos.
23. Ehlers-Danlos syndrome
24. Fanconi anaemia
25. Fitz-Hugh-Curtis syndrome.
26. Fragile X syndrome.
27. galactosaemia.
28. gastroschisis.
29. glucose-6-phosphatase deficiency. G6PD.
30. glucose-6-phosphate dehydrogenase deficiency. G6PDD.
31. haemochromatosis.
32. haemosiderosis..
33. haemophilia A:
34. haemophilia B:
35. Hunter syndrome.
36. Huntington’s disease.
37. juvenile polycystic kidney disease.
38. Kallmann’s syndrome.
39. Klinefelter’s syndrome.
40. Lesch Nyhan syndrome.
41. Lynch syndrome (HNPCC).
42. Malignant hyperthermia.
43. Maple syrup urine disease.
44. Marfan’s syndrome.
45. Martin-Bell syndrome.
46. Mayer-Rokitansky-Kuster-Hauser syndrome.
47. McCune-Albright syndrome.
48. Meckel-Gruber syndrome.
49. Medium-chain acyl-CoA dehydrogenase deficiency.
50. mucopolysaccharidosis type I.
51. Myotonic dystrophy.
52. neurofibromatosis.
53. Niemann-Pick disease.
54. Noonan syndrome.
55. ocular albinism.
56. osteogenesis imperfecta.
57. osteoporosis.
58. Patau’s syndrome.
59. Perrault syndrome.
60. phenyketonuria.
61. polydactyly.
62. Prader-Willi syndrome.
63. Potter’s syndrome.
64. pyruvate kinase deficiency.
65. sickle cell disease.
66. spherocytosis.
67. Syndrome X.
68. Tay-Sach’s disease.
69. Thalassaemia.
70. Triple X syndrome.
71. Turner’s syndrome.
72. Swyer’s syndrome.
73. Uniparental disomy.
74. VACTERL.
75. von Willebrand’s disease.
76. A mother has spina bifida. What is the risk of a child being affected?
77. A mother has had a child with spina bifida, what is the risk of the next child being affected?
78. A mother has had two children with spina bifida. What is the risk of the next child being affected?
79. A mother has grand-mal epilepsy. What is the risk of her child having epilepsy?
80. A mother and her partner both have grand-mal epilepsy. What is the risk of their child having epilepsy?
81. A mother has insulin-dependent diabetes mellitus. What is the risk of a child being affected?
82. A mother has congenital heart disease. What is the risk of a child being affected?
83. A mother takes lithium for bi-polar disorder throughout her pregnancy. What is the risk of the child having congenital heart disease?
84. 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?
Essays 12 July 2012.
A woman is referred to the gynaecology clinic with a complaint of an unpleasant odour emanating from the genital area.
1. Outline the history you will take. 6 marks
2. Critically evaluate the differential diagnosis. 6 marks
3. Critically evaluate the management. 8 marks.
With regard to female genital mutilation (FGM).
1. what are the key aspects of the law in the UK relating to FGM? 2 marks.
2. what are the responsibilities of the doctor who suspects that a child may be subjected to FGM? 2 marks.
3. how is FGM graded? 3 marks.
4. outline the management of woman found at booking to have had FGM. 13 marks.
With regard to Gestational Trophoblastic Neoplasia.
Outline the factors influencing prognosis.
With regard to the Clinical Negligence Scheme for Trusts.
1. What it the CNST? 6 marks.
2. Describe the impact of the CNST on obstetric practice. 14 marks.
