Thursday, 4 June 2015

Tutorial 4th. June 2015





4 June 2015.

12
Air Travel & Pregnancy. SIP 1. 2013. Extract key facts for EMQs.
13
EMQ. Cystic fibrosis.
14
Communication skills: explain recessive inheritance
15
EMQ. Parvovirus & pregnancy.
16
EMQ. Mental Capacity Act.

12.      Air Travel & Pregnancy. SIP 1. 2013.
Extract key facts for EMQs.

13.      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?

14.      Role-play.
Explain recessive inheritance as you would in a station on cystic fibrosis.

15.      EMQ. Parvovirus & pregnancy.
             
Lead-in.
The following scenarios relate to parvovirus infection
Pick one option from the option list.
Each option can be used once, more than once or not at all.

Abbreviations.
PvIgM:     parvovirus B19 IgM

Option list.
There is none: make up your own answers!
Scenario 1.
What type of virus is parvovirus?
Scenario 2.
Is the title B19 something to do with the American B19 bomber, its potentially devastating bomb load and the comparably devastating consequences of the parvovirus on human erythroid cell precursors?
Scenario 3.
PVB19 in the UK occurs in mini-epidemics at 3 – 4 year intervals, usually during the summer months.
Scenario 4.
Which animal acts as the main reservoir for infection?
Scenario 5.
What percentage of UK adults are immune to parvovirus infection?
Scenario 6.
What names are given to acute infection in the human?
Scenario 7.
What is the incubation period for parvovirus infection?
Scenario 8
What is the duration of infectivity for parvovirus infection?
Scenario 9.
What are the usual symptoms of parvovirus infection in the adult?
Scenario 10.
What is the incidence of parvovirus infection in pregnancy?
Scenario 11.
How is recent infection diagnosed?
Scenario 12.
How long does PvIgM persist and why is this important?
Scenario 13.
What is the rate of vertical transmission of parvovirus infection?
Scenario 14.
Are women with parvovirus infection who are asymptomatic less likely to pass the virus to their fetuses?
Scenario 15.
To what degree is parvovirus infection teratogenic?
Scenario 16.
What proportion of pregnancies infected with parvovirus are lost?
Scenario 17.
What is the timescale for the onset of hydrops?
Scenario 18.
Laboratories are advised to retain bloods obtained at booking for at least 2 years for possible future reference. True or false?
Scenario 19.
What ultrasound features would trigger consideration of cordocentesis?
Scenario 20.
Must suspected parvovirus infection be notified to the authorities?  Yes or No.
Scenario 21.
Possible parvovirus infection does not need to be investigated after 20 week’s gestation.  True or false?
Scenario 22
If serum is sent to the laboratory from a woman with a rash in pregnancy for screening for rubella, the laboratory should automatically test for parvovirus infection too.  True or false?

16.      EMQ. Mental Capacity Act.

Lead-in.
The following scenarios relate to the Mental Capacity Act 2005.
Pick one option from the option list.
Each option can be used once, more than once or not at all.

Abbreviations.
CAD:        Court-appointed Deputy.
COP:         Court of Protection.
FGR:         fetal growth restriction.
LPA:          Lasting Power of Attorney.
MCA:       Mental Capacity Act 2005.
PoA:         Power of Attorney.

Option list.
A.                       Yes
B.                       No
C.                       True
D.                       False
E.                        Does not exist
F.                        The husband
G.                       A parent
H.                       The child
I.               The General Practitioner
J.               The Consultant
K.                        The Registrar
L.                                      The Consultant treating the patient
M.                     A Consultant not involved in treating the patient
N.                       The Medical Director
O.                      A person with Powers of Attorney
P.                        The sheriff or sheriff’s deputy
Q.                      Balance of probabilities
R.                       Beyond reasonable doubt
S.                        None of the above.

Scenario 1.
A person with LPA is normally not a family member.
Scenario 2.
A Sheriff’s Deputy is normally not a family member.
Scenario 3.
A person with PoA can consent to treatment for the patient who lacks capacity.
Scenario 4.
A Court-appointed Deputy can consent to treatment for the patient who lacks capacity, but must go back to the Court of Protection if further consent is required for additional treatment.
Scenario 5.
A person with PoA can authorise withdrawal of all care except basic care in cases of individuals with persistent vegetative states.
Scenario 6.
An advance decision can authorise withdrawal of all but basic care in cases of persistent vegetative states.
Scenario 7
A person with PoA cannot overrule an advance direction about withdrawal or withholding of life-sustaining care.
Scenario 8
A woman is seen in the antenatal clinic at 39 weeks’ gestation. Her blood pressure is 180/110 and she has +++ of proteinuria on dipstick testing. She has mild epigastric pain. A scan shows evidence of FGR with the baby on the 2nd. centile. Doppler studies of the umbilical artery are abnormal and a non-stress CTG shows loss of variability and variable decelerations. She is advised that she appears to have severe pre-eclampsia and is at risk of eclampsia and of intracranial haemorrhage. She is told of the associated risk of mortality and morbidity. She is also advised that the baby is showing evidence of severe FGR and has abnormal Doppler studies and CTG which could lead to death or hypoxic damage. She declines admission or treatment. She says she trusts in God and wishes to leave her fate and that of her baby in His hands. She is seen by a psychiatrist who assesses her as competent under the MCA and with no evidence of mental disorder. The obstetrician wants to apply to the COP for an order for compulsory treatment. Can he do this?
Scenario 9
A woman is admitted at 36 weeks’ gestation with evidence of placental abruption. She is semi-comatose and shocked. There is active bleeding and the cervical os is closed. Fetal heart activity is present but with bradycardia and decelerations. The consultant decides that Caesarean section is the best option to save her live and that of the baby. When reading the notes, the registrar comes across an advance notice drawn up by the woman and her solicitor. It states that she does not wish Caesarean section, regardless of the risk to her and the baby. The consultant tells the registrar that they can ignore it now that she is no longer competent and get on with the Caesarean section for which she will be thankful afterwards. The registrar says that the advance notice is binding. Who is correct?
Scenario 10
An 8 year old girl is admitted with abdominal pain. Appendicitis is diagnosed with peritonitis and surgery is advised. The parents decline treatment on religious grounds. Can the consultant in charge overrule the parents and give consent?





Monday, 1 June 2015

Tutorial 1 June 2015

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1 June 2015.

7
EMQ.  Mode of inheritance
8
EMQ.  Cervical cancer staging
9
SBA.  Cancer incidence & mortality
10
EMQ. Stolen notes
11
EMQ. Cowden syndrome

7. 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.
achondrogenesis.
achondroplasia.
acute fatty liver of pregnancy (AFLP).
adreno-genital syndrome
adult polycystic kidney disease.
androgen insensitivity syndrome.
albinism.
Angelman syndrome.
Apert syndrome.
Becker muscular dystrophy.
Beckwith-Wiedemann syndrome.
BRCA 1.
BRCA2.
Cavanan syndrome.
Charcot-Marie-Tooth disease.
chondrodystrophy.
Christmas disease.
congenital adrenal hyperplasia.
Cowden syndrome.
cri-du-chat syndrome. 
cystic fibrosis.
Dandy-Walker syndrome.
developmental dysplasia of the hip.
Down’s syndrome.
Duchenne muscular dystrophy
Dwarfism. See isolated growth hormone deficiency.
Edward’s syndrome.
exomphalos.
Ehlers-Danlos syndrome
Fanconi anaemia
Fitz-Hugh-Curtis syndrome.
Fragile X syndrome.
galactosaemia.
gastroschisis.
glucose-6-phosphatase deficiency. G6PD.
glucose-6-phosphate dehydrogenase deficiency. G6PDD.
haemochromatosis.
haemosiderosis..
haemophilia A:
haemophilia B:
Hunter syndrome.
Huntington’s disease.
ichthyosis.
isolated growth hormone deficiency.
juvenile polycystic kidney disease.
Kallmann’s syndrome.
Klinefelter’s syndrome.
Lesch Nyhan syndrome.
Lynch syndrome (HNPCC).
Malignant hyperthermia.
Maple syrup urine disease. 
Marfan’s syndrome.
Martin-Bell syndrome.
Mayer-Rokitansky-Kuster-Hauser syndrome.
McCune-Albright syndrome.
Meckel-Gruber syndrome.
Medium-chain acyl-CoA dehydrogenase deficiency.
mucopolysaccharidosis type I.
Myotonic dystrophy.
neurofibromatosis.
Niemann-Pick disease.
Noonan syndrome.
ocular albinism.
osteogenesis imperfecta.
osteoporosis.
Patau’s syndrome.
Perrault syndrome.
phenyketonuria.
polydactyly.
porphyria.
Potter’s syndrome.
Prader-Willi syndrome. 
Prune-belly syndrome
pyruvate kinase deficiency.
sickle cell disease.
spherocytosis.
Syndrome X.
Tay-Sach’s disease.
Thalassaemia.
Thrombophilia.
Triple X syndrome.
Turner’s syndrome.
Swyer’s syndrome.
Uniparental disomy.
VACTERL.
vitamin D resistant rickets
von Willebrand’s disease.
A mother has spina bifida. What is the risk of a child being affected? 
A mother has had a child with spina bifida, what is the risk of the next child being affected?  
A mother has had two children with spina bifida. What is the risk of the next child being affected?
A mother has grand-mal epilepsy. What is the risk of her child having epilepsy?
A mother and her partner both have grand-mal epilepsy. What is the risk of their child having epilepsy?
A mother has insulin-dependent diabetes mellitus. What is the risk of a child being affected?
A mother has congenital heart disease. What is the risk of a child being affected? 
A mother takes lithium for bi-polar disorder throughout her pregnancy. What is the risk of the child having congenital heart disease?
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?

8 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.

9 Cancer incidence and mortality.

Question 1.
Lead-in
What is the most common female cancer?

Option List


Bowel

Breast

Cervix

Endometrium

Lung

Question 2.
Lead-in
What is the 2nd. most common female cancer?

Option List


Bowel

Breast

Cervix

Endometrium

Lung

Question 3.
Lead-in
What is the 3rd. most common female cancer.

Option List


Bowel

Breast

Cervix

Endometrium

Lung

Question 4.
Lead-in
What is the 4th. most common female cancer.

Option List


Bowel

Breast

Cervix

Endometrium

Lung


Question 5.
Lead-in
What is the 5th. most common female cancer?

Option List


Cervix

Non-Hodgkin’s lymphoma

Ovary

Skin

Vulva

Question 6.
Lead-in
What is the most common cancer causing female death in the UK?

Option List


Breast

Bowel

Lung

Ovary

Pancreas

Question 7.
Lead-in
What is the 2nd. most common cancer causing female death in the UK?

Option List


Breast

Bowel

Lung

Ovary

Pancreas

Question 8.
Lead-in
What is the 3rd. most common cancer causing female death in the UK?

Option List


Breast

Bowel

Lung

Ovary

Pancreas

Question 9.
Lead-in
What is the 4th. most common cancer causing female death in the UK?


Option List


Brain

Oesophagus

Ovary

Pancreas

Uterus

Question 10.
Lead-in
What is the 5th. most common cancer causing female death in the UK?

Option List


Brain

Oesophagus

Ovary

Pancreas

Uterus

10. Risk management: stolen case notes.

Stolen case-notes.

Lead-in.
A doctor has been asked to carry out an audit and 50 sets of case-notes are to be used.
He is given 49 sets of notes and a day in which to go through them and extract the necessary data.
This he does in the hospital.
The final set of notes cannot be found initially, but are found two weeks later.
The doctor is given the notes on a Friday afternoon as he is leaving for home.
He decides to take the notes home to extract the data.
On the way home he stops at his favourite supermarket.
When he emerges, his car has been stolen with the notes inside.
He reports the theft to the police.
He informs you, the Clinical Director, on the Monday when he returns to work.
What action will you take?
Pick one option from the option list.

Abbreviations.

Option list.

Report events to the Caldicott Guardian

Report events to the Chief Executive

Report events to the General Medical Council

Report events to the NHSLA as a “never event”

Report events to the NHSLA as a “serious incident”

Report events to the Root Cause Analysis Team

Report events as a serious adverse incident

Report events to the Trust Information Management Committee

Suspend the doctor until a full investigation has been done

11. Cowden syndrome.
Scenario 1.
Lead in.
Which feature is associated with Cowden syndrome?
Option list.
A.     albinism
B.     hamartoma
C.     hammer-toe
D.     hypertrichosis
E.     stammer
Scenario 2.
Lead in. Which condition has the highest risk of occurrence in women with Cs?
Option list.
A.     breast cancer
B.     bowel cancer
C.     congenital absence of Mullerian tract derivatives
D.     hypertension
E.     hypothyroidism
Scenario 3.
Lead in. Which gynaecological cancer is a particular risk for women with Cs?
Option list.
A.     Bartholin’s gland cancer
B.     cervical cancer
C.     choriocarcinoma
D.     endometrial cancer
E.     vulval cancer
Scenario 4.
Lead in. Which cancer has increased risk for men with Cs?
Option list.
A.     breast cancer
B.     colon cancer
C.     melanoma
D.     renal cancer
E.     thyroid cancer
F.      all of the above