Friday 20 June 2014

Tutorial 19 June 2014

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4
EMQ. Mode of inheritance.
11
With regard to anti-phospholipid syndrome:
1.  outline the clinical manifestations of APS.          4 marks.
2.  outline the implications of APS for pregnancy  4 marks.
3.  critically evaluate how the diagnosis is made.   4 marks.
4.  critically evaluate the management in the woman wishing to be pregnant.     8 marks.
12
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
13
Critically evaluate vitamin supplementation in pregnancy.
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.   cystic fibrosis.
21.   Dandy-Walker syndrome.
22.   developmental dysplasia of the hip.
23.   Down’s syndrome.
24.   Duchenne muscular dystrophy
25.   Dwarfism. See isolated growth hormone deficiency.
26.   Edward’s syndrome.
27.   exomphalos.
28.   Ehlers-Danlos syndrome
29.   Fanconi anaemia
30.   Fitz-Hugh-Curtis syndrome.
31.   Fragile X syndrome.
32.   galactosaemia.
33.   gastroschisis.
34.   glucose-6-phosphatase deficiency. G6PD.
35.   glucose-6-phosphate dehydrogenase deficiency. G6PDD.
36.   haemochromatosis.
37.   haemosiderosis..
38.   haemophilia A:
39.   haemophilia B:
40.   Hunter syndrome.
41.   Huntington’s disease.
42.   ichthyosis.
43.   isolated growth hormone deficiency.
44.   juvenile polycystic kidney disease.
45.   Kallmann’s syndrome.
46.   Klinefelter’s syndrome.
47.   Lesch Nyhan syndrome.
48.   Lynch syndrome (HNPCC).
49.   Malignant hyperthermia.
50.   Maple syrup urine disease. 
51.   Marfan’s syndrome.
52.   Martin-Bell syndrome.
53.   Mayer-Rokitansky-Kuster-Hauser syndrome.
54.   McCune-Albright syndrome.
55.   Meckel-Gruber syndrome.
56.   Medium-chain acyl-CoA dehydrogenase deficiency.
57.   mucopolysaccharidosis type I.
58.   Myotonic dystrophy.
59.   neurofibromatosis.
60.   Niemann-Pick disease.
61.   Noonan syndrome.
62.   ocular albinism.
63.   osteogenesis imperfecta.
64.   osteoporosis.
65.   Patau’s syndrome.
66.   Perrault syndrome.
67.   phenyketonuria.
68.   polydactyly.
69.   porphyria.
70.   Prader-Willi syndrome. 
71.   Potter’s syndrome.
72.   pyruvate kinase deficiency.
73.   sickle cell disease.
74.   spherocytosis.
75.   Syndrome X.
76.   Tay-Sach’s disease.
77.   Thalassaemia.
78.   Thrombophilia.
79.   Triple X syndrome.
80.   Turner’s syndrome.
81.   Swyer’s syndrome.
82.   Uniparental disomy.
83.   VACTERL.
84.   vitamin D resistant rickets
85.   von Willebrand’s disease.
86.   A mother has spina bifida. What is the risk of a child being affected? 
87.   A mother has had a child with spina bifida, what is the risk of the next child being affected?  
88.   A mother has had two children with spina bifida. What is the risk of the next child being affected?
89.   A mother has grand-mal epilepsy. What is the risk of her child having epilepsy?
90.   A mother and her partner both have grand-mal epilepsy. What is the risk of their child having epilepsy?
91.   A mother has insulin-dependent diabetes mellitus. What is the risk of a child being affected?
92.   A mother has congenital heart disease. What is the risk of a child being affected? 
93.   A mother takes lithium for bi-polar disorder throughout her pregnancy. What is the risk of the child having congenital heart disease?
94.   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?




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