Thursday, 24 July 2014

Tutorial 24 July 2014

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14
EMQ. Cystic fibrosis.
15
EMQ. Turner’s syndrome
47
A woman attends the pre-pregnancy counselling clinic. She plans her second pregnancy in the near future. Her sister recently had a baby with Down’s syndrome.
1.  Outline and justify your agenda for the discussion.        4 marks
2.  Critically evaluate the investigations you will arrange.    4 marks
3.  Justify the key information you will include.                   12 marks
48
A 30-year-old woman with thalassaemia major attends for pre-pregnancy counselling.
1. Justify the history you will take.                       4 marks
2. Detail the investigations you will arrange.     6 marks
3. Outline the issues you will discuss in relation to risks of pregnancy.                                                                             5 marks
4 Outline the management of pregnancy in cases of thalassaemia  major.                                                                                   5 marks
49
A nulliparous woman is found to have hydrops fetalis on a routine 20 week anomaly scan.
1. List the main causes of hydrops fetalis.  12 marks.
2. Outline the key investigations.                   8 marks
50
A woman of 48 is referred with erratic vaginal bleeding for six months. She has had an intra-uterine contraceptive in place for five years. She has occasional hot flushes.
1. Justify the things you will focus on in taking her history.  6 marks
2. Justify the investigations you will perform.                          6 marks
3. Justify the advice you will give.                                               8 marks

This question is about cystic fibrosis.

To make you behave in a model fashion, there is no option list:  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 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 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 contain abnormally low levels of sodium.
Is this advice correct?


Turner’s  syndrome.

This is supposed to be an EMQ, but some of the questions are MCQ with “True” and “False” answerst. It includes everything I think you might be asked about Turner’s.

Option list.
There is no option list.

Questions.

1.         TS is due to 45XO.                                                                  
2.         What is the incidence of TS?                                             
3.         The incidence of TS rises with maternal age?             .
4.         Most cases of TS are due to loss of a paternal chromosome. 
5.         How common in monosomy X in TS?                            
6.         How common is monosomy Y in TS?                             
7.         What % of miscarriages are due to TS?                         
8.         What % of TS pregnancies miscarry?                             
9.         ↑ NT is a feature of TS                                                        
10.     ↑ NT is a feature of congenital heart disease           
11.     Low birth weight is a feature of TS.                                 .
12.     If TS is suspected, but the neonate’s karyotype from blood testing is normal, the diagnosis is Noonan’s syndrome.                                        .
13.     Neonates are at normal risk of developmental dysplasia of the hip. 
14.     Immune hydrops is more common in TS.                    
15.     Cystic hygroma is more common in TS.                        
16.     What is the approximate risk of malignancy if there is XY mosaicism in TS?  
17.     How common is webbing of the neck in TS?                              
18.     How common is a low occipital hairline in TS?                            
19.     How common is congenital heart disease in TS?      
20.     Dissecting aortic aneurysm is more common in TS. 
21.     How common is lymphoedema in TS?                          
22.     How common is kidney disease in TS?                          
23.     Short stature in TS has been linked to the TS gene.
24.     What % of adolescents with TS have scoliosis.           .
25.     Inverted nipples are more common in TS.                  
26.     1ry. amenorrhoea occurs in all cases.                            
27.     Adrenarche occurs at a normal time.                            
28.     Cubitus valgus is more common in TS.                          
29.     Cleft palate if a feature of TS.                                           
30.     Micrognathia is a feature of TS.                                       
31.     Abnormalities of teeth and nails are more common in TS.   
32.     Otitis media is more common in TS.                                               
33.     Intelligence is usually lower in TS, especially verbal skills.     
34.     Women with TS have higher mortality rates than other women..
35.     Oestrogen should be started on diagnosis to promote bone growth.  .
36.     Oestrogen-only HRT is appropriate for bone protection.     
37.     Women with TS have an ↑ risk of hypertension.    
38.     Women with TS have an ↑ risk of coeliac disease. 
39.     Women with TS have an increased risk of Crohn’s disease and ulcerative colitis. 
40.     Women with TS have an ↑ risk of diabetes                               
41.     Women with TS have an ↑ risk of hyperthyroidism.              
42.     Women with TS have an ↑ risk of deafness.              .
43.     Women with TS have an ↑ risk of osteoporosis.
44.     Women with TS have similar rates of red-green colour blindness to men.  
45.     Women with TS have a normal incidence of ptosis.
46.     Women with TS cannot have children.
47.     The “short stature homeobox” (SHOX) gene has been implicated in TS


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