Thursday, 1 August 2013

Tutorial 1 August 2013

Tutorial.
Website.
Contact us.


You can click on the title or "Tutorial" above to go to Soundcloud and access and download the tutorial.
I am also putting it on Dropbox.
If you want to access the ones on Dropbox, you need a Dropbox account.
You also need to let me know the e-mail address you use for the account.
I can then link your account to my Dropbox files and you can access them whenever you want.
If you don't have a Dropbox account, click on the link below.
This will take you to Dropbox and it is child's play to set up an account.




54
You have been asked to write guidance for the unit in relation to labour and delivery in water.
Outline how you will go about the task.       8 marks.
Discuss the key issues to be included in the guidance. 12 marks
55
A woman of 54 is referred with a history of vaginal bleeding for 3 days.
Her last menstrual period was 9 months ago. She has menopausal symptoms. Critically evaluate the investigation.
56
A 30-year-old woman para 1+1 presents at 34 weeks gestation with right loin pain, frequency of micturition, dysuria and pyrexia.
1. Justify the history you will take.                                          6 marks.
2. Justify the investigations you will arrange.                           6 marks.
3. Justify your management if the diagnosis is pyelonephritis. 12 marks.
57
A 20 year-old woman with a known history of drug abuse attends the hospital antenatal booking clinic in her first pregnancy.
a. outline the factors determining her level of risk  4 marks.
b. outline the risks to the mother                           6 marks.
c. outline the risks to the fetus                               4 marks.
d. outline the risks to the neonate & infant              4 marks.
e. outline the risk to others                                     2 marks.

Before that we had an EMQ, that was part EMQ, part MCQ.



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?














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