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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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