Tutorial 2 December 2013

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https://soundcloud.com/drtmcf/2-december-2013

Tonight we wrote 4 essay plans and started to anwer a rather long EMQ.
Send you essay plans and I'll send mine.
Send what you can do of the EMQ and I'll provide the answer.

4.	EMQ 4 Mode of inheritance.
11	A 25-year-old attends the A&E department at 36 weeks’ gestation complaining of headache. 1. List the differential diagnosis.                            6 marks 2. Justify the history you will obtain.     6 marks 3. Evaluate the management options.   8 marks
12	A woman of 18 attends the A&E Department requesting emergency contraception. 1.  Outline the history you will take.                        4 marks. 2.  Justify the investigations you will arrange.      2 marks. 3.  Outline the methods of emergency contraception and their pros and cons.  8 marks                                                                                                                               3.  Justify your management.                                  8 marks.
13	A 35-year-old woman plans to go to a malarial area of Africa to join her husband who works there. She is 6 weeks pregnant. Critically evaluate the advice you will give her.
14	With regard to the Clinical Negligence Scheme for Trusts. 1. What it the CNST?                                                                      8 marks 2. Describe the impact of the CNST on obstetric practice.    12 marks

Mode of inheritance.

Lead-in.

The following questions relate to the mode of inheritance – some not quite to “mode”, but I am sure you will indulge me!

For each question, write what you think is the mode of inheritance or appropriate answer. There is no option list.

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. BRCA 1.
13. BRCA2.
14. Cavanan syndrome.
15. Charcot-Marie-Tooth disease.
16. chondrodystrophy.
17. Christmas disease.
18. congenital adrenal hyperplasia.
19. cri-du-chat syndrome.  
20. Dandy-Walker syndrome.
21. developmental dysplasia of the hip.
22. Down’s syndrome.
23. Duchenne muscular dystrophy
24. Dwarfism. See isolated growth hormone deficiency.
25. Edward’s syndrome.
26. exomphalos.
27. Ehlers-Danlos syndrome
28. Fanconi anaemia
29. Fitz-Hugh-Curtis syndrome.
30. Fragile X syndrome.
31. galactosaemia.
32. gastroschisis.
33. glucose-6-phosphatase deficiency. G6PD.
34. glucose-6-phosphate dehydrogenase deficiency. G6PDD.
35. haemochromatosis.
36. haemosiderosis..
37. haemophilia A:
38. haemophilia B:
39. Hunter syndrome.
40. Huntington’s disease.
41. ichthyosis.
42. isolated growth hormone deficiency.
43. juvenile polycystic kidney disease.
44. Kallmann’s syndrome.
45. Klinefelter’s syndrome.
46. Lesch Nyhan syndrome.
47. Lynch syndrome (HNPCC).
48. Malignant hyperthermia.
49. Maple syrup urine disease.  
50. Marfan’s syndrome.
51. Martin-Bell syndrome.
52. Mayer-Rokitansky-Kuster-Hauser syndrome.
53. McCune-Albright syndrome.
54. Meckel-Gruber syndrome.
55. Medium-chain acyl-CoA dehydrogenase deficiency.
56. mucopolysaccharidosis type I.
57. Myotonic dystrophy.
58. neurofibromatosis.
59. Niemann-Pick disease.
60. Noonan syndrome.
61. ocular albinism.
62. osteogenesis imperfecta.
63. osteoporosis.
64. Patau’s syndrome.
65. Perrault syndrome.
66. phenyketonuria.
67. polydactyly.
68. Prader-Willi syndrome. 
69. Potter’s syndrome.
70. pyruvate kinase deficiency.
71. sickle cell disease.
72. spherocytosis.
73. Syndrome X.
74. Tay-Sach’s disease.
75. Thalassaemia.
76. Thrombophilia.
77. Triple X syndrome.
78. Turner’s syndrome.
79. Swyer’s syndrome.
80. Uniparental disomy.
81. VACTERL.
82. vitamin D resistant rickets
83. von Willebrand’s disease.
84. A mother has spina bifida. What is the risk of a child being affected? 
85. A mother has had a child with spina bifida, what is the risk of the next child being affected?   
86. A mother has had two children with spina bifida. What is the risk of the next child being affected?
87. A mother has grand-mal epilepsy. What is the risk of her child having epilepsy?
88. A mother and her partner both have grand-mal epilepsy. What is the risk of their child having epilepsy?
89. A mother has insulin-dependent diabetes mellitus. What is the risk of a child being affected?
90. A mother has congenital heart disease. What is the risk of a child being affected?  
91. A mother takes lithium for bi-polar disorder throughout her pregnancy. What is the risk of the child having congenital heart disease?
92. 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?