Thursday, 26 May 2016

Tutorial 26th. May 2016

Website.

26 May 2016.

7
EMQ. Cystic fibrosis.
8
EMQ.  Mode of inheritance
9
EMQ.  Cervical cancer staging
10
SBA.  Cancer incidence & mortality

7.        EMQ. Cystic fibrosis.
This question is about cystic fibrosis.
For each scenario choose the option that gives the best answer.
Each option can be used once, more than once or not at all.
And, to make you behave in a model fashion, there is no option list, so you have to decide the correct answer.
Scenario 1.
A woman is 8 weeks pregnant and known to be a carrier of cystic fibrosis.
Her husband is Caucasian.
What is the risk of the child having cystic fibrosis?
Scenario 2.
A healthy woman attends for pre-pregnancy counselling.
Her brother has cystic fibrosis. Her husband is Caucasian.
He has been screened for cystic fibrosis. The test was negative.
What is the risk of them having a child with cystic fibrosis?
Scenario 3.
A healthy woman is a known carrier of cystic fibrosis.
She attends for pre-pregnancy counselling. Her husband has cystic fibrosis.
What is the risk of them having a child with CF?
Scenario 4.
A healthy woman attends for pre-pregnancy counselling. Her sister has had a child with cystic fibrosis.
What is her risk of being a carrier?
Scenario 5.
A woman attends for pre-pregnancy counselling. Her mother has cystic fibrosis.
What is the risk that she is a carrier?
Scenario 6 .
A woman attends for pre-pregnancy counselling. Her mother has cystic fibrosis.
The partner’s risk of being a carrier is 1 in X.
What is the risk that she will have a child with CF?
Scenario 7.
A healthy Caucasian woman is 10 weeks pregnant.
Her husband is a known carrier of cystic fibrosis.
Which test would you arrange?
Scenario 8.
A woman attends for pre-pregnancy counselling. She has read about diagnosing CF using cffDNA from maternal blood. Is it possible to test for CF in this way?
Scenario 9.
A woman and her husband are known carriers of cystic fibrosis.
What is the risk of them having an affected child.
Scenario 10.
A woman and her husband are known carriers of cystic fibrosis.
What can they do to reduce the risk of having an affected child?
Scenario 11.
A woman and her husband are known carriers of cystic fibrosis.
Can CVS exclude an affected pregnancy?
Scenario 12.
A woman with cystic fibrosis is planning pregnancy. Her husband is a  known carriers of cystic fibrosis. What is the risk of having an affected child?
Scenario 13.
A woman with cystic fibrosis has a normal delivery of a healthy, 3.2 kg. baby at term. She has been advised not to breastfeed because her breast milk will be protein-deficient due to malabsorption.
Is this advice correct?
Scenario 14.
A woman with cystic fibrosis has a normal delivery of a healthy, 3.2 kg. baby at term. She has been advised not to breastfeed because her breast milk will contain abnormally low levels of sodium.
Is this advice correct?

8.        EMQ.  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.   Cowden syndrome.
20.   cri-du-chat syndrome. 
21.   cystic fibrosis.
22.   Dandy-Walker syndrome.
23.   developmental dysplasia of the hip.
24.   Down’s syndrome.
25.   Duchenne muscular dystrophy
26.   Dwarfism. See isolated growth hormone deficiency.
27.   Edward’s syndrome.
28.   exomphalos.
29.   Ehlers-Danlos syndrome
30.   Fanconi anaemia
31.   Fitz-Hugh-Curtis syndrome.
32.   Fragile X syndrome.
33.   galactosaemia.
34.   gastroschisis.
35.   glucose-6-phosphatase deficiency. G6PD.
36.   glucose-6-phosphate dehydrogenase deficiency. G6PDD.
37.   haemochromatosis.
38.   haemosiderosis.
39.   haemophilia A:
40.   haemophilia B.
41.   Hunter syndrome.
42.   Huntington’s disease.
43.   ichthyosis.
44.   isolated growth hormone deficiency.
45.   juvenile polycystic kidney disease.
46.   Kallmann’s syndrome.
47.   Klinefelter’s syndrome.
48.   Lesch Nyhan syndrome.
49.   Lynch syndrome (HNPCC).
50.   Malignant hyperthermia.
51.   Maple syrup urine disease. 
52.   Marfan’s syndrome.
53.   Martin-Bell syndrome.
54.   Mayer-Rokitansky-Kuster-Hauser syndrome.
55.   McCune-Albright syndrome.
56.   Meckel-Gruber syndrome.
57.   Medium-chain acyl-CoA dehydrogenase deficiency.
58.   mucopolysaccharidosis type I.
59.   Myotonic dystrophy.
60.   neurofibromatosis.
61.   Niemann-Pick disease.
62.   Noonan syndrome.
63.   ocular albinism.
64.   osteogenesis imperfecta.
65.   osteoporosis.
66.   Patau’s syndrome.
67.   Perrault syndrome.
68.   phenyketonuria.
69.   polydactyly.
70.   porphyria.
71.   Potter’s syndrome.
72.   Prader-Willi syndrome. 
73.   Prune-belly syndrome.
74.   pyruvate kinase deficiency.
75.   sickle cell disease.
76.   spherocytosis.
77.   Syndrome X.
78.   Tay-Sach’s disease.
79.   Thalassaemia.
80.   Thrombophilia.
81.   Triple X syndrome.
82.   Turner’s syndrome.
83.   Swyer’s syndrome.
84.   Uniparental disomy.
85.   VACTERL.
86.   vitamin D resistant rickets
87.   von Willebrand’s disease.
88.   A mother has spina bifida. What is the risk of a child being affected? 
89.   A mother has had a child with spina bifida, what is the risk of the next child being affected?   
90.   A mother has had two children with spina bifida. What is the risk of the next child being affected?
91.   A mother has grand-mal epilepsy. What is the risk of her child having epilepsy?
92.   A mother and her partner both have grand-mal epilepsy. What is the risk of their child having epilepsy?
93.   A mother has insulin-dependent diabetes mellitus. What is the risk of a child being affected?
94.   A mother has congenital heart disease. What is the risk of a child being affected? 
95.   A mother takes lithium for bi-polar disorder throughout her pregnancy. What is the risk of the child having congenital heart disease?
96.   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?

9.        EMQ.  Cervical cancer staging.
EMQ Paper 1 , Question 6 . Ca Cx staging.
Lead-in.
The following scenarios relate to cervical cancer staging.
For each, select the most appropriate staging.
Pick one option from the option list.
Each option can be used once, more than once or not at all.
Scenario 1.
A woman of 25 has a cone biopsy. The histology report shows squamous cell carcinoma penetrating to a depth of 2 mm and 6 mm in width. The resection margins are tumour-free. There is no evidence of spread outside the uterus. She is nulliparous and wishes to retain her fertility.
Scenario 2.
A woman of 25 has a cone biopsy. The histology report shows squamous cell carcinoma penetrating to a depth of 5 mm and 6 mm in width. The resection margins are tumour-free. There is no evidence of spread outside the uterus. She is nulliparous and wishes to retain her fertility.
Scenario 3.
A woman of 25 has a cone biopsy. The histology report shows squamous cell carcinoma penetrating to a depth of 5 mm and 6 mm in width. The resection margins are not tumour-free. There is no evidence of spread outside the uterus. She is nulliparous and wishes to retain her fertility.
Scenario 4.
A woman of 25 has a cone biopsy. The histology report shows squamous cell carcinoma penetrating to a depth of 6 mm and 3 cm in width. The resection margins are tumour-free. There is no evidence of extension outside the uterus. She is nulliparous and wishes to retain her fertility.
Scenario 5.
A woman of 25 has a cone biopsy. The histology report shows squamous cell carcinoma penetrating to a depth of 6 mm and 5 cm in width. The resection margins are tumour-free. She is nulliparous and wishes to retain her fertility.
Scenario 6.
A woman of 38 has a cone biopsy. The histology report shows squamous cell carcinoma penetrating to a depth of 4 mm and 6mm in width. The resection margins are tumour-free. An MR scan shows involvement of the lymphatic nodes in the left of the pelvis.
Scenario 7.
A woman of 45 has carcinoma of the cervix. It extends into the parametrium, but not to the pelvic side-wall. It involves the upper 1/3 of the vagina. There is MR evidence of para-aortic node involvement.
Scenario 8.
A woman of 55 has carcinoma of the cervix. It extends to the pelvic side-wall. It involves the upper 1/3 of the vagina. She has a secondary on the end of her nose.
Scenario 9.
A woman of 55 has carcinoma of the cervix. It involves the bladder mucosa.
Scenario 10.
A woman of 35 has a proven cancer of the cervix with extension into the right parametrium, but not to the pelvic side-wall. Left hydroureter and left non-functioning kidney are noted on IVP and there is no other explanation for the findings. Cystoscopy shows bullous oedema of the bladder mucosa.
Scenario 11.
A woman of 25 has a cone biopsy. It shows malignant melanoma. The lesion invades to a depth of 3 mm and is 5 mm in width. The margins of the biopsy are clear. There is evidence of lymphatic vessel involvement. There is no evidence of spread outside the uterus.
Option list.
Micro-invasive cervical cancer.
Stage Ia1
Stage Ia2
Stage Ia3
Stage Ib1
Stage Ib2
Stage Ib3
Stage IIa
Stage IIb
Stage IIc
Stage IIIa
Stage IIIb
Stage IIIc
Stage IVa
Stage IVb
Stage IVc
Stage Va
Stage Vb
Stage Vc
None of the above.
This question illustrates the problems surrounding staging. If you are not a cancer specialist, it is not something that you think about very often, if ever. So you have to put it into your list of things to revise in the days before the exam. If you haven’t started this list, do so now.

10.      SBA.  Cancer incidence & mortality.
Abbreviations.
JCVI:      Joint Committee on Vaccination and Immunisation
NHL:      non-Hodgkin Lymphoma

Question 1.
Lead-in
Which is the most common female cancer?
Option List
A.       
Bowel
B.       
Breast
C.       
Cervix
D.       
Endometrium
E.        
Lung
Question 2.
Lead-in
Which is the 2nd. most common female cancer?
Option List
A.       
Bowel
B.       
Breast
C.       
Cervix
D.       
Endometrium
E.        
Lung
Question 3.
Lead-in
Which is the 3rd. most common female cancer?
Option List
A.       
Bowel
B.       
Breast
C.       
Cervix
D.       
Endometrium
E.        
Lung
Question 4.
Lead-in
Which is the 4th. most common female cancer?
Option List
A.       
Bowel
B.       
Breast
C.       
Cervix
D.       
Endometrium
E.        
Lung
Question 5.
Lead-in
Which is the 5th. most common female cancer?
Option List
A.       
Cervix
B.       
Malignant melanoma
C.       
Non-Hodgkin’s lymphoma
D.       
Ovary
E.        
Vulva
Question 6.
Lead-in
Which is the 6th. most common female cancer?
Option List
A.       
Cervix
B.       
Non-Hodgkin’s lymphoma
C.       
Ovary
D.       
Skin
E.        
Vulva
Question 7.
Lead-in
Where does cervical cancer feature in the list of the most common female cancers?
Option List
A.       
10th.
B.       
12th.
C.       
16th.
D.       
20th.
E.        
24th.
Question 8.
Lead-in
Where does vulval cancer feature in the list of the most common female cancers?
Option List
A.       
10th.
B.       
12th.
C.       
16th.
D.       
20th.
E.        
24th.
Question 9.
Lead-in
Which is the most common cancer causing female death in the UK?
Option List
A.       
Breast
B.       
Bowel
C.       
Lung
D.       
Ovary
E.        
Pancreas
Question 10.
Lead-in
Which is the 2nd. most common cancer causing female death in the UK?
Option List
A.       
Breast
B.       
Bowel
C.       
Lung
D.       
Ovary
E.        
Pancreas
Question 11.
Lead-in
Which is the 3rd. most common cancer causing female death in the UK?
Option List
A.       
Breast
B.       
Bowel
C.       
Lung
D.       
Ovary
E.        
Pancreas
Question 12.
Lead-in
Which is the 4th. most common cancer causing female death in the UK?
Option List
A.       
Brain
B.       
Oesophagus
C.       
Ovary
D.       
Pancreas
E.        
Uterus
Question 13.
Lead-in
Which is the 5th. most common cancer causing female death in the UK?
Option List
A.       
Brain
B.       
Oesophagus
C.       
Ovary
D.       
Pancreas
E.        
Uterus
Question 14.
Which is the 6th. most common cancer causing female death in the UK?
Option List
A.       
Brain
B.       
Oesophagus
C.       
Ovary
D.       
Pancreas
E.        
Uterus
Question 15.
Lead-in
The incidence of cervical cancer has fallen from the late 1970s until now. What is the approximate figure for the fall?
Option List
A.       
10%
B.       
25%
C.       
50%
D.       
60%
E.        
75%
Question 16.
Lead-in
The incidence of cervical cancer fell in the past decade. What is the approximate figure for the fall?
Option List
A.       
5%
B.       
10%
C.       
15%
D.       
20%
E.        
25%
Question 17.
Lead-in
What proportion of cervical cancer is diagnosed in women < 45 years?
Option List
A.       
20%
B.       
30%
C.       
40%
D.       
50%
E.        
60%
Question 18.
Lead-in
When was routine HPV vaccination of girls introduced in the UK?
Option List
A.       
2000
B.       
2002
C.       
2004
D.       
2006
E.        
2008
Question 19.
Lead-in
From what year might we expect to see a reduction in cervical cancer incidence as a result of the HPV vaccination programme?
Option List
A.       
2020
B.       
2025
C.       
2030
D.       
2040
E.        
2050
Question 20.
Lead-in
When was routine HPV vaccination of boys introduced in the UK?
Option List
A.       
2010
B.       
2011
C.       
2012
D.       
2014
E.        
None of the above


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