SBA revision Flashcards

1
Q

Amenorrhoea + High Oestradiol, High Prolactin

Low LH
Low FSH

A

Pregnancy
- Elevated oestradiol (secreted by placenta) , suppressed LH/FSH

Prolactin also rises in pregnancy

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2
Q

Causes of gynaecomastia?

A

Gynaecomastia describes an abnormal amount of breast tissue in males and is usually caused by an increased oestrogen:androgen ratio. It is important to differentiate the causes of galactorrhoea (due to the actions of prolactin on breast tissue) from those of gynaecomastia

Causes of gynaecomastia
physiological: normal in puberty
syndromes with androgen deficiency: Kallman's, Klinefelter's
testicular failure: e.g. mumps
liver disease
testicular cancer e.g. seminoma secreting hCG
ectopic tumour secretion
hyperthyroidism
haemodialysis
drugs: see below
Drug causes of gynaecomastia
spironolactone (most common drug cause)
cimetidine
digoxin
cannabis
finasteride
gonadorelin analogues e.g. Goserelin, buserelin
oestrogens, anabolic steroids
Ramapril (rare)
Thiazide diuretics (Rare)
Very rare drug causes of gynaecomastia
tricyclics
isoniazid
calcium channel blockers
heroin
busulfan
methyldopa
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3
Q

Drug cause sof Gynaecomastia?

A
spironolactone (most common drug cause)
cimetidine
digoxin
cannabis
finasteride
gonadorelin analogues e.g. Goserelin, buserelin
oestrogens, anabolic steroids
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4
Q

SBHG levels - what conditions decrease/increase it?

A
SHBG levels may be decreased in:
Obesity
Hypothyroidism
Androgen use
Nephrotic syndrome
Cushing's disease, and
Acromegaly.
Levels may be increased in:
Hepatic cirrhosis
Hyperthyroidism, and
Oestrogen use.
SHBG levels fall when testosterone production increases, with oestrogens increasing SHBG synthesis in liver.
Pregnancy leads to increased oestrogens and thus increases SHBG synthesis.
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5
Q

What are mirror movements and what syndrome are they seen in?

A

Mirror movements (for example, clicking the fingers of the right hand and seeing a similar involuntary movement in the left hand) are characteristic of X linked Kallmann’s syndrome.

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6
Q

Causes of hypergonadotrophic hypogonadism?

A

Causes of hypergonadotrophic hypogonadism (high FSH, low oestradiol)

Gonadal dysgenesis 45 XO (Turner syndrome)
Gonadal dysgenesis 46 XY (Swyer syndrome)
Gonadal dysgenesis 46 XX
Familial gonadal dysgenesis 17-hydroxylase deficiency
Galactosaemia
Ataxia telangiectasia
Myotonia dystrophica
Autoimmune disorders
Chemotherapy/radiation therapy (ovarian cytotoxicity)
Resistant ovary syndrome
Menopause, premature ovarian failure.

In the case of women who are taking the combined oral contraceptive pill, because of inhibition of the pituitary by raising concentrations of oestrogen, the secretion of FSH is inhibited.

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7
Q

What is Mendelson syndrome?

A

Mendelson’s syndrome is chemical pneumonitis caused by aspiration during anaesthesia, especially during pregnancy. Aspiration contents may include gastric juice, blood, bile, water or an association of them.

The risk of aspiration - Mendelson’s syndrome - can be reduced through appropriate anaesthetic measures (i.e. cricoid pressure) and through prior use of acid suppressant therapy. Pressure applied posteriorly through the cricoid cartilage can be utilised to occlude the oesophagus and reduce the risk of regurgitation during induction. In most adults, cricoid pressure would be reserved for rapid sequence induction (or any other situation where they were thought to be at high risk of aspiration). But in pregnancy they are felt to all be at high risk of aspiration, cricoid pressure is much more frequently used.

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8
Q

Why do you get hyperthyroidism in pregnancy?

A

Because B-HCG can mimic TSH

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9
Q

What is Omental Cake?

A

The diagnosis is omental carcinomatosis (cake), secondary to ovarian carcinoma.
There is extensive ascites filling the anterior abdomen. In addition there is abnormal soft tissue related to the omentum of the bowel. This is known as omental cake, which is commonly associated with ovarian carcinoma - this patient had a raised CA 125.
Other common associations are stomach and pancreatic carcinoma.

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10
Q

What is the Pearl Index?

A

Methods of contraception are compared by the Pearl index.
A high Pearl index stands for a high chance of unintentionally getting pregnant; a low value for a low chance.
The Pearl index will be determined by the number of unintentional pregnancies related to 100 women years. For example, 100 women can use contraception for one year each with the method that is going to be examined. If three pregnancies occur during this period in this group, the Pearl index will be 3.0.
To give some examples, the Pearl index of condoms is 3-12 and that of the OCP is 0.1 to 1.

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11
Q

Hyperthyroidism in pregnancy?

Mx?

A

Graves’ disease is the commonest cause of hyperthyroidism in pregnancy, and the incidence is roughly 1 in 500 to 1 in 2,000.

Radio-iodine is absolutely contraindicated in pregnancy due to the risk to the fetal thyroid.

The most appropriate treatment is carbimazole/Propylthiouracil and as both drugs cross the placenta the minimal dose of each should be used so as to render the patient euthyroid. It needs careful monitoring of TFTs and dose adjustment.

Both carbimazole and PTU are excreted in small amounts in breast milk. Usually they are of no consequence and breast feeding is not absolutely contraindicated however it is obviously not ideal to take either whilst breastfeeding.

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12
Q

Testicular tumour age groups?

A

The main differentiating factor here is the age of the patient. Teratomas are tumours that more commonly occur in patients of the age group 20-30 and seminomas in the age group 30-50.

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13
Q

Features of infants of diabetic mothers?

A
Hypoglycaemia (as the fetus has been exposed to high circulating glucose levels resulting in the insulin hypersecretion and hence macrosomia)
Congenital abnormalities
Talipes
Congenital heart defects
Polycythaemia
Hypocalcaemia
Birth injuries/shoulder dystocia.
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14
Q

A 22-year-old man returned from a trip to West Africa two days ago. He is complaining of multiple painful ulcers on his penis. He admits to having unprotected sex with a local woman a few days before he left the country.
On examination there are multiple ulcers on his penis, they have a purulent base and bleed when they are touched, the edges are undermined. He has left sided inguinal lymphadenopathy.

A
  • Chancroid (gram -ve Haemophilus ducreyi)
  • Common in tropics, incubation period 3-10days
  • Tx: Abx eg. Cipro + STI screen

Other causes of ulcers:

  • LGV (chlamydia trachomatis) - PC usually solitary ulcer that may be painless, and can be associated with urethritis and proctitis
  • HSV/HZV - both also present with multiple painful ulcers, but incubation period typically longer
  • Primary syphilis (Painless, indurated)
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15
Q

Which Hep is most common in gays?

A

HBV - Especially as it is more transmissable by sex than HCV

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16
Q

Von Willebrand’s disease?

A

Von Willebrand’s disease is the most common hereditary bleeding disorder with autosomal dominant inheritance.
It is caused by a deficiency of von Willebrand factor, which causes platelets to adhere to the blood vessel wall and to each other.
The coagulation profile depends on the subtype of vWD but in the most common (and mild) cases it will show:
Normal platelet count
Prolonged bleeding time
Normal (slightly prolonged) APTT, and
Normal PT.
Diagnosis is confirmed with reduced ristocetin co-factor or reduced vWF factor concentrations.
Because factor VIII is bound to vWF while inactive in circulation it is possible to have relatively reduced factor VIII too, which can prolong the APTT in addition to bleeding time.
In haemophilia A (an isolated defect in factor VIII) there would be a very prolonged APTT with normal vWF levels. Bleeding time would be less abnormal.

Haemophilia B : F9 deficiency (X-linked)

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17
Q

Post-partum thyroiditis?

A

Tends to occur within the three months of delivery followed by a hypothyroid phase at three to six months, followed by spontaneous recovery in one third of cases. In the remaining two-thirds, a single-phase pattern or the reverse occurs.
Management is centred on symptomatic treatment using beta-blockers for relief of tremor or anxiety, and observation for the development of persistent hypo- or hyperthyroidism.

Carbimazole and propylthiouracil (PTU) are thyroid peroxidase inhibitors. They are used in thyrotoxicosis however post-partum thyroiditis is usually transient, therefore symptomatic treatment (with beta-blockers) should be enough.
Radioactive iodine is used in thyrotoxicosis that has not responded to PTU or carbimazole. Lugol’s iodine is part of the treatment of a thyrotoxic storm, in which the patient would be much more clinically unwell and is not the diangosis here.

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18
Q

Epilepsy & pregnancy

A

In pregnancy total plasma concentrations of anticonvulsants fall, so the dose may need to be increased.
Lamotrigine is probably the best choice of antieptileptic for generalised epilepsy in women of child-bearing age. It doesn’t have any major known teratogenic effects but it cannot conclusively be said to be safe. She should receive high-dose folate supplements.
Screening with alpha fetoprotein (AFP) and second trimester ultrasound are required. Vitamin K should be given to the mother prior to delivery.

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19
Q

APS antibodies?

A

Anticardiolipin antibodies may be found.
Venous thrombi occur more often if lupus anticoagulant is positive and arterial thrombi if IgG or IgM antiphospholipid antibody are positive. Long term warfarin is indicated.

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20
Q

SERMs?

A

Raloxifene is the first of the so-called selective oestrogen receptor modulators.
There are fundamentally two types of oestrogen receptor, alpha and beta, distributed at locations such as breast, uterus, bone and in the vasculature.
Raloxifene acts as an oestrogen agonist at some sites, for example, bone to increase mineralisation, but acts as an antagonist at other sites, for example, uterus/breast (preventing endometrial/breast hyperplasia).
It differs from tamoxifen in this regard, because tamoxifen (another SERM) acts as a partial agonist at the endometrium, so can promote endometrial hyperplasia.
- Clomifene is also a SERM

Tamoxifen:
In breast tissue, the drug acts as an antagonist at the oestrogen receptor although it acts as an agonist at other tissues in the body such as the endometrium. Since oestrogen receptor positive breast cancers require the action of oestrogen on the neoplastic cells to grow, blockade at the level of the receptor by tamoxifen reduces the risk of neoplastic transformation or tumour growth. However, in the endometrium, tamoxifen is an agonist at oestrogen receptors and this has the potential to promote carcinomatous growth. For this reason, use of tamoxifen is generally restricted to a maximum of five years to reduce the likelihood of endometrial cancer.
Another site where tamoxifen acts as an agonist is at bone. The effect of activation of oestrogen receptors on bone is to inhibit osteoclast activity and so it acts as a bone density protector and reduces the incidence of osteoporosis.

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21
Q

When in prostate cancer based on PSA would hormonal therapy be indicated?

A

Hormonal therapy not routinely recommended for men with prostate cancer who have a biochemical relapse unless they have:

  • Symptomatic local disease progression
  • Any proven mets
  • PSA doubling time
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22
Q

Haematuria one stop clinic?

A

In the haematuria clinic the following tests are carried out:
Urine for microscopy, culture and sensitivity - to rule out an infection as the cause of the bleeding.
Urine cytology - high grade bladder cancer will show malignant cells on cytology.
Cystoscopy (flexible) - endoscopic procedure to visualise the bladder mucosa in order to identify bladder lesions or stones.
Ultrasound of the renal tract - to identify any renal tumours.

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23
Q

What is Fournier’s gangrene?

A

Fournier’s gangrene is a true urological emergency. Early recognition and surgical debridement is the key to successful treatment.
Fournier’s gangrene is a necrotising fasciitis of the perineum which can rapidly spread to the skin of the entire scrotum and penis (1-2 cm/h). Mortality is high and averages 20-30%.
Risk factors include
Diabetes mellitus (most common)
Alcohol dependence
Immunosuppressive therapy
Longstanding steroid therapy
Malnutrition
HIV
Extremes of age and
Low socio-economic status.
Cellulitis is a non-necrotising inflammation of the skin and subcutaneous tissues, a process related to acute infection that does not involve the fascia or muscles.
A scrotal abscess presents in a similar way to Fournier’s gangrene and often requires surgical intervention to drain the abscess. On examination there is tenderness and swelling but no signs of rapid spread of infection or necrosis.

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24
Q

Causes of elevated Ca125

A
Causes of an elevated CA 125 include:
Ovarian cancer
Endometrial cancer
Tumours of the pancreas, GI tract, lung and breast
Benign gynaecological disease, such as cysts and endometriosis
Early pregnancy
Follicular phase of menstrual cycle, and
Cirrhosis or hepatitis.
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25
Q

Menopause hormone levels?

A

Elevated follicle-stimulating hormone (FSH) and luteinising hormone (LH) together on blood tests three months apart are consistent with the menopause.

Elevated testosterone can occur in a minority of patients post menopause and is consistent with ovarian hyperthecosis. In some women, this will be severe enough to cause hirsutism.

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26
Q

B-HCG and gestational age?

A

Detection of beta hCG forms the basis of the pregnancy test. Beta hCG is elevated in serum around eight days after conception, and it is detectable in urine one to two days later. Implantation occurs around six to seven days after conception. Serum beta hCG levels rise exponentially in early pregnancy to peak around week 10/40.
Although there are broad reference ranges for different gestational ages, there is a lot of intra-individual and intra-pregnancy variation. This means that a level of 7500 IU/l could indicate a gestational age of five to seven weeks in a healthy pregnancy. A more accurate estimation of gestational age is obtained by ultrasound

Beta hCG testing of serum will establish if the patient is pregnant and provide a baseline to enable serial results to be compared. In normal pregnancies beta hCG will double around every two days until it reaches a peak at week 10/40. For a patient with early pregnancy, monitoring of serial beta hCG measurements is useful in detecting a likely ectopic pregnancy. If serum beta hCG increases more slowly than normal an ectopic pregnancy is likely.

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27
Q

What is ovarian hyperthecosis?

A

Ovarian hyperthecosis describes the presence of luteinised theca cell nests in the ovarian stroma. When compared with the closely related condition of PCOS, hyperthecosis is associated with more severe hyperandrogenism and virilisation. Testosterone concentrations are much higher than in PCOS and may exceed 7 nmol/L (levels depend on the method used for laboratory analysis).

Ovarian hyperthecosis accounts for most of the cases of hyperandrogenaemia in postmenopausal women, although its prevalence in younger women is much lower, affecting less than 1% of women with elevated androgens in their reproductive years.

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28
Q

Causes of elevated prolactin?

A

Stress - causes mild degrees of elevation of prolactin to around 600-800 IU/L.
Effects of medication including treatment for anti-psychotics, metoclopramide, certain anti-depressants and anti-epileptics. This is a very heterogenous group and can cause at times marked elevations in prolactin, which are usually asymptomatic.
Hypothyroidism.
Pregnancy
Lactation and nipple stimulation.
Prolactinoma.
Pituitary mass causing compression of the pituitary stalk - this will reduce the tonic inhibitory effect of dopamine on prolactin release, causing increased prolactin secretion.

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29
Q

Pregnancy biochemistry?

A

Pregnancy is associated with: raised prolactin, low LH, low FSH, raised oestrogen, raised progesterone, where progesterone is usually greater than oestrogen.
Changes in pregnancy compared to non-pregnant women:
Dilutional effect causing:
low Na+
low K+
low albumin and gamma globulins
low Hb - mainly dilutional, although iron deficiency is also common
low urea, creatinine and urate
low TSH and low free T4 - hCG is structurally similar to TSH and suppresses fT4 production
Increased WCC and platelets
Increased cholesterol and triglycerides
Increased ESR
Increased alkaline phosphatase - the placenta produces this.

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30
Q

Obstetric cholestasis diagnosis?

A

LFTs or bile acids need to be abnormal in order to make the diagnosis. However, bilirubin is raised in only a minority of cases and visible jaundice is rare. Elevated transaminases and/or GGT are much more common.

Obstetric cholestasis is associated with:
Perinatal mortality
An increased incidence of passage of meconium
Premature delivery
Fetal distress
Delivery by caesarean section
Postpartum haemorrhage.

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31
Q

Hypertension in pregnancy values?

A

Mild hypertension:
Diastolic blood pressure 90-99 mmHg,
Systolic blood pressure 140-149 mmHg.

Moderate hypertension:
Diastolic blood pressure 100-109 mmHg,
Systolic blood pressure 150-159 mmHg.

Severe hypertension:
Diastolic blood pressure 110 mmHg or greater,
Systolic blood pressure 160 mmHg or greater.

NICE recommend the use of low dose aspirin in women at high risk of pre-eclampsia from 12/40 until the birth of the baby. However, this is an unlicensed indication, and treatment benefits and risks should be thoroughly discussed with the patient to allow her to make an informed choice.
Women at high risk are those with any of the following:
Hypertensive disease during a previous pregnancy
Chronic kidney disease
Autoimmune disease such as systemic lupus erythematosus or antiphospholipid syndrome
Type 1 or type 2 diabetes
Chronic hypertension.
Women with one or more of the following characteristics are also at moderately increased risk of hypertensive disorders in pregnancy:
First pregnancy
Age 40 years or older
Pregnancy interval of more than 10 years
Body mass index (BMI) of 35 kg/m2 or more at first visit
Family history of pre-eclampsia
Multiple pregnancy.
Many anti-hypertensive medications which are commonly used in non-pregnant adults are unsuitable during pregnancy. This includes ACE inhibitors which are considered teratogenic. Many beta blockers such as atenolol also carry risks to the fetus, particularly of bradycardia and apnoea if taken just before birth.

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32
Q

Pre-eclampsia recurrence risk?

A

For women with uncomplicated or mild pre-eclampsia in one pregnancy, their risk of developing:
Gestational hypertension in a future pregnancy is about 1 in 2-6 (13-53%).
Pre-eclampsia in a future pregnancy is about 1 in 6 (16%).
For women with severe pre-eclampsia in one pregnancy or with complications such as HELLP syndrome or eclampsia, the risk of pre-eclampsia in a future pregnancy is:
About 1 in 4 (25%) if their previous pregnancy led to delivery before 34 weeks
1 in 2 (55%) pregnancies if it led to delivery before 28 weeks.

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33
Q

NICE diabetes preconception advice?

A

The NICE guidelines on Diabetes in pregnancy (NG3) state that women with diabetes who are planning to become pregnant should be advised:
That the risks associated with pregnancies complicated by diabetes increase with the duration of diabetes
To use contraception until good glycaemic control has been established
That medications for diabetes including insulin regimens will need to be reviewed before and during pregnancy
If it is safely achievable, women with diabetes who are planning to become pregnant should aim to maintain their HbA1c below 48 mmol/mol (6.5%)
Even if 48 mmol/mol (6.5%) cannot be safely reached, women should be reassured that any reduction in HbA1c towards the target is likely to reduce the risk of congenital malformations
Women with diabetes whose HbA1c is above 86 mmol/mol (10%) should be strongly advised to avoid pregnancy
Women with diabetes who are planning a pregnancy should take folic acid at a dose of 5 mg per day.

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34
Q

Pregnancy and diabetes : Which meds are safe/avoided?

A

Treatment should be supplemented with insulin to obtain a target HbA1c

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35
Q

Pregnancy & Diabetes: Labour advice?

A

Women with diabetes in pregnancy:
May require a dextrose infusion during labour to maintain the blood glucose between 4-7 mmol/L
Can have a vaginal delivery, but should be offered elective induction of labour or caesarian section after 38 weeks
Should have access to fetal monitoring in the weeks prior to delivery to identify any fetal distress
Should give birth in a place permitting rapid access to neonatal resuscitation facilities
Give birth to babies with a risk of neonatal hypoglycaemia - babies should be observed for 24 hours after birth to ensure any hypoglycaemia is detected and treated
Are at increased risk of hypoglycaemia during breastfeeding.

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36
Q

Smear test screening?

A

Women aged 25-49 years living in England are routinely recalled for screening every three years.
Women receive their first invitation for cervical screening at 25 years of age. They are not invited earlier as changes in the young cervix can be normal and result in unnecessary treatment.
Provided the smears remain negative and there are no symptoms to suggest cervical cancer, the routine recall is three years for women aged 25-49 years.
Women aged 50-64-years-old are routinely recalled for a smear every five years.
After the age of 65 years, women are only screened if they have not had a smear since the age of 50 years (including those who have never had a smear) or those who have had recent abnormal smears.
This is because due to the natural history and progression of cervical cancer, it is highly unlikely women over 65 years old will go on to develop the disease.

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37
Q

Antibiotics for UTI in pregnancy

A

Amoxacillin/penicillin drug of choice

Trimethoprim is folate antagonist should be avoided in first trimester

Doxycycline - should be avoided as associated with discolouration of teeth, skin, phototoxicitiy, tinnitutus and multiple skeletal developmental abnoralities.

  • CI Throughout pregnancy
  • Should term use during breast feeding okay as minimal accumulation in breast milk

Nitro - CI in porphyria/G6PD. Best avoided beyond 38wks as immature red cell enzyme system of neonates may increase risk of haemolysis
- Found in breast milk so NOT suitable for breast feeding mothers.

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38
Q

Microgynon 30?

A

COCP containing oestrogen ethinylestradiol (30ug) and levenorgestrel (150ug)

Some classes of antibiotics, such as metronidazole, are enzyme inducers when used in short courses, and additional barrier methods of contraception are mandatory while using the antibiotic and for four weeks after discontinuing it.

Other drugs which cause hepatic enzyme induction which are likely to cause contraception failure include anticonvulsants, antivirals, antifungals and some over-the-counter herbal remedies including St John’s Wort. A comprehensive drug history is very important in all patients.

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39
Q

ALL

A

ALL is the most common representing 23% of childhood cancers, with an annual rate of 30-40 per million.
Age of less than 2 and greater than 9 at presentation suggests adverse prognosis.
The chromosomal abnormality in ALL involves a translocation in the 11q23 region.
It does affect the meninges which is why prophylactic cranio-spinal irradiation and intrathecal methotrexate is given.
It carries a good prognosis with a cure rate of 80%. However male sex carries a worse prognosis.

The peak incidence is 2 years in females and 3 years in males.

Sites of involvement may include testes and meninges, which carry a poor prognosis. Meningeal disease may be prevented by intrathecal chemotherapy and cranial radiotherapy, but not in all cases.

Relapse on treatment and male sex carry a poorer prognosis.

The prognosis is poor if the age is less than 1 year or greater than 9 years.

Treatment is usually for two years in girls and three years in boys.

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40
Q

Commonest site for osteoclastoma?

A

Approximately 50% of giant cell tumours (osteoclastomas) are located around the knee at the distal femur.
Next commonest site is the proximal tibia, with the proximal humerus and distal radius representing the third and fourth most common sites, respectively.
Most commonly giant cell tumours are solitary lesions; less than 1% are multicentric.

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41
Q

Ewing’s?

A

Ewing’s tumour occurs at a younger age than osteosarcoma and its range of incidence is primarily between 5 - 30 years.
The patient usually presents with pyrexia pain and may have an elevated erythrocyte sedimentation rate.
The tumour involves a long bone, particularly the diaphysis. Forty per cent of cases of Ewing’s sarcoma are found in the axial skeleton, usually pelvis. With large tumours the site of origin is inferred from the centre of radius of the mass.
The tumour is primarily destructive and ill-defined and erodes the cortex of the bone.
Its cellular origin is obscure but is thought to be derived from undifferentiated mesenchymal cells in the medulla of the bone.
There is an early periosteal reaction and a classical appearance of this tumour is of a lamellated series of periosteal reactions showing an onion skin appearance. The elevation of the periosteum gives rise to the Codman’s triangle appearance.

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42
Q

Cancers causing bone mets?

A

Breast (35%), prostate (30%), bronchus (10%), kidney (5%) and thyroid (2%).

Bone metastases occur in 30% of patients with malignant disease.

They usually present with:
bone pain
a lump
pathological fracture
hypercalcaemia, or
cord compression.
Ten per cent of patients with bone metastases will develop a pathological fracture.
Radiological changes usually occur late and bone scintigraphy is the most sensitive investigation available to detect metastatic spread.
Most metastases are osteolytic but some tumours, particularly prostate carcinoma, cause osteosclerotic lesions.

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43
Q

Wernicke’s?

A

B1 (thiamine deficiency)

Ataxia, confusion + ocular disturbances

Wernicke’s encephalopathy is a neuropsychiatric disorder caused by thiamine deficiency which is most commonly seen in alcoholics. Rarer causes include: persistent vomiting, stomach cancer, dietary deficiency. A classic triad of nystagmus, ophthalmoplegia and ataxia may occur. In Wernicke’s encephalopathy petechial haemorrhages occur in a variety of structures in the brain including the mamillary bodies and ventricle walls

Features
nystagmus (the most common ocular sign)
ophthalmoplegia
ataxia
confusion, altered GCS
peripheral sensory neuropathy

Investigations
decreased red cell transketolase
MRI

Treatment is with urgent replacement of thiamine

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44
Q

GBS

A

Classic Guillain-Barré syndrome (GBS) is an acute, ascending, and progressive neuropathy characterised by
Ascending weakness
Paraesthesias and
Hyporeflexia.
In severe cases muscle weakness may lead to respiratory failure. Severe labile autonomic dysfunction also may occur.
Maximal weakness typically occurs two weeks after the initial onset of symptoms but may evolve early and abruptly. Two thirds of patients have a history of gastrointestinal or respiratory infection from one to three weeks prior to the onset of weakness.
Lymphomas, particularly Hodgkin’s disease, pregnancy, surgery, and drugs can cause it.

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45
Q

Wegener’s?

A

Onset of Wegener’s granulomatosis may be insidious or acute, and the full spectrum of the disease may take years to evolve.
Presenting complaints include:
Severe haemorrhagic rhinorrhoea
Paranasal sinusitis
Nasal mucosal ulcerations (with consequent secondary bacterial infection)
Serous or purulent otitis media
Hearing loss
Cough
Haemoptysis, and
Pleuritis.
Renal involvement is prominent and frequently dominates the patient’s clinical picture. Glomerulonephritis with proteinuria, haematuria, and red cell casts typically precedes functional renal impairment.
Serum complement levels are normal or elevated. The erythrocyte sedimentation rate (ESR) is elevated.
Leukocytosis is present.
Anaemia may be profound.
Antinuclear antibodies and LE cells are absent. High titres of antineutrophilic cytoplasmic antibodies (ANCA) are almost invariably present and may provide a relatively specific and sensitive marker for diagnosing the disease and sometimes for following its course.

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46
Q

Which tumours produce ectopic ACTH?

Presentation?

A
Small cell lung cancer is the most common tumour associated with ectopic ACTH production. Other types of tumours include tumours of the
Thymus
Pancreas
Thyroid
Adrenal gland.

Patients with paraneoplastic (ectopic) adrenocorticotropic hormone production present with
Polyuria and polydipsia (from elevated blood glucose)
Oedema
Muscle wasting
Fatigue
Hypertension
Hypokalaemia

rather than the classic clinical features of hypercortisolism (for example, moon faces, striae, or buffalo hump).
Laboratory evaluations reveal excessive cortisol production (for example, elevated 24 hour urine-free cortisol) and lack of dexamethasone suppression of morning cortisol levels.
Plasma ACTH levels greater than 200 pg/mL suggest ectopic ACTH production and warrant a search for an underlying malignancy, especially a primary lung or pancreatic tumour.

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47
Q

Definition of blindness?

A

Legally blind: 6/60 or worse in better eye with correction

WHO: 3/60 or worse or unable to count fingers in daylight at 3m

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48
Q

Drug causes of osteoporosis?

A
Corticosteroids
Heparin
Cyclosporin
Methotrexate, and
Cytotoxic therapy.
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49
Q

How long after isolated episode of mania controlled by medication can you drive?

A

After a period of three months of remaining stable and well

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50
Q

Olanzapine SE?

A
Akathisia (restlessness, or an inability to sit still) is a typical side effect associated with the use of the atypical antipsychotic olanzapine.
Others include:
Agranulocytosis
Hyperprolactinaemia
Hyperglycaemia
Depression, and
Anxiety.
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51
Q

Termination of oculogyric crisis?

A

IV procyclidine

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52
Q

Inferior/posterior dislocation of lens cause?

A

This would be consistent with a diagnosis of homocytinstinuria.

In Marfan’s syndrome the lens often dislocates in an upward and outward direction.

Other causes of lens dislocation include homocystinuria. and following cataract surgery.

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53
Q

Sinusitis organism & Abx of choice?

A

Studies have shown that 70% of cases of community-acquired acute sinusitis in adults and children are caused by Streptococcus pneumoniae and Haemophilus influenzae.

Second line therapies include ciprofloxacin and co-amoxiclav. First and second generation cephalosporins are not generally favoured.

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54
Q

Management of acute opiate withdrawal?

A

A good way of managing acute opioid withdrawal in patients who are actively using heroin is to titrate codeine to effect. It can be given in 30-60 mg doses and repeated each 30 minutes until the symptoms have begun to subside.

If a patients normally takes methadone then their dispensing pharmacy should be contacted to confirm their dose prior to administration. Codeine could be used in the meantime to alleviate symptoms of opioid withdrawal.

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55
Q

Pott’s cancer?

A

Pott’s cancer is a scrotal cancer caused by coal tar exposure.

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56
Q

ALL good and bad prognostic factors?

A
Good prognostic factors
FAB L1 type
Common ALL
Pre-B phenotype
Low initial WBC
Poor prognostic factors
FAB L3 type
B, T cell type
Philadelphia translocation, t(9;22) 
Increasing age at diagnosis
Male sex
CNS involvement
High initial WBC (e.g. > 100).
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57
Q

Pea stuck in ear. Mx?

A

Suction with or without sedation is the most appropriate method in this case.
Irrigation is contraindicated for soft objects, organic matter or seeds, which may swell when exposed to water.
Syringing the ear is an option for many foreign bodies, providing that the tympanic membrane is not perforated. However, it should not be used for vegetable matter, since vegetable matter may swell in the presence of water.
Use of any implement (such as a hook) that may push the pea further into the ear canal should be avoided.
Use of a general anaesthetic for this sort of incident is too risky and magnetic probe would obviously be of no use here.

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58
Q

Frontal lobe lesions

A

Lesions of the frontal lobe include difficulties with task sequencing and executive skills.
Other symptoms include:
Expressive aphasia (receptive aphasias are due to a temporal lobe lesion)
Primitive reflexes
Perseveration (repeatedly asking the same question or performing the same task)
Anosmia, and
Changes in personality.

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59
Q

Parietal lobe lesions

A

Lesions of the parietal lobe include:
Apraxias
Neglect
Astereognosis (unable to recognise an object by feeling it), and
Visual field defects (typically homonymous inferior quadrantanopia).
They may also cause alcalculia (inability to perform mental arithmetic).

60
Q

Temporal lobe lesions

A
Lesions of the temporal lobe cause:
Visual field defects (typically homonymous superior quadrantanopia)
Wernicke's (receptive) aphasia
Auditory agnosia, and
Memory impairment.
61
Q

Occipital lobe lesions

A

Occipital lobe lesions include:
Cortical blindness (blindness due to damage to the visual cortex and may present as Anton syndrome where there is blindness but the patient is unaware or denies blindness)
Homonymous hemianopia, and
Visual agnosia (seeing but not perceiving objects - it is different to neglect since in agnosia the objects are seen and followed but cannot be named).

62
Q

Causes of miosis/mydriasis?

A
Causes of small pupils include:
Horner's syndrome
Old age
Pontine haemorrhage
Argyll Robertson pupil
Drugs, and
Poisons (opiates, organophosphates).
Causes of dilated pupils include:
Holmes-Adie (myotonic) pupil
Third nerve palsy
Drugs, and
Poisons (atropine, CO, ethylene glycol).
63
Q

Gauchers disease?

A

The slide shows yellow papules (pingueculae) in the cornea; these are characteristic of Gaucher disease.
Gaucher disease is inherited as an autosomal recessive disease. The disease is caused by a deficiency of the enzyme glucocerebrosidase, essential for the metabolism of glycolipids.
There are three types of Gaucher disease:
Type 1: Chronic non-neuropathic; adult Gaucher disease
Type 2: Acute neuropathic; infantile Gaucher disease
Type 3: Subacute neuropathic; juvenile Gaucher disease
Patients with all types of disease have hepatosplenomegaly and large glucocerebroside-rich cells (Gaucher cells) infiltrating the bone marrow.
Type 2, infantile Gaucher disease, carries the worst prognosis, with children seldom surviving beyond 2 years.
Type 1 disease is the commonest, usually presenting in childhood with hepatosplenomegaly, but not uncommonly in middle or old age.
Bone marrow replacement and hypersplenism result in anaemia and thrombocytopenia.
Pathological bone fractures and avascular necrosis of the femoral heads are not uncommon.
Bony disease may be confined to the distal ends of the femurs, with formation of characteristic ‘Erlenmeyer flask’ shaped cysts.
The skin may show a grey-brown discolouration, especially around the forehead, hands and pre-tibial regions. Characteristic yellow or yellow-brown papules (pingueculae) develop at the sclerocorneal junctions.

64
Q

Procyclidine overdose?

A

Procyclidine is used to treat the parkinsonian side-effects of neuroleptics; its presence in the patient’s pocket implies that he was taking neuroleptics.

Signs of procyclidine overdose include:
Agitation
Confusion
Sleeplessness lasting up to 24 hours or more, and
Pupils are dilated and unreactive to light.
Visual and auditory hallucinations and tachycardia have also been reported.

65
Q

cancer pain niche drugs

A

Carbamazepine is in use for the treatment of neuropathic pain of malignancy, diabetes and other disorders.
Clodronate inhibits osteoclastic bone resorption and is used to treat malignant bone pain and the associated hypercalcaemia.
The corticosteroids are used to treat pain from central nervous system tumours. Reducing the inflammation and oedema relieves the pain caused by neural compression.
Nifedipine helps relieve painful oesophageal spasm and tenesmus associated with gastrointestinal tumours.
Painful bladder spasm may be relieved by oxybutynin.

66
Q

Hearing loss prevalence in:

Birth

50-59
60-69
70-79
80-89

A

Birth: 0.3%

50-59%: 10%

60-69%: 25%

70-79: 50%

80-89%: 70-80%

67
Q

Hemiballismum?

A

This is hemiballismus, and in a patient with diabetes is likely to be due to a vascular event in the contralateral subthalamic nucleus.
Hemiballismus is usually characterised by involuntary flinging motions of the extremities, which are often violent. It is continuous and random, and can involve proximal, distal or facial muscles. It is always unilateral, but it is common for arms and legs to move together. The movements worsens with activity, and decrease with relaxation. It results from a decrease in activity of the subthalamic nucleus of the basal ganglia, which results in decreased suppression of involuntary movements.
In addition to strokes there are a number of other causes of hemiballismus. These include:
traumatic brain activity
amyotrophic lateral sclerosis
hypergylcaemia
malignancy
vascular malformations
tuberculomas, and
demyelinating plaques.
Treatment should initially start with identifying and treating the cause. When pharmacological treatment is necessary this is usually initially with an antidopaminergic such as haloperidol or chlorpromazine. Topiramate can be used, as can intrathecal baclofen, botulinum toxin and tetrabenazine. Functional neurosurgery can be used for cases which have failed to respond to other treatment.

68
Q

Paget’s disease of bone - associated cancer?

A

Osteogenic sarcoma complicates 5% of cases.

69
Q

Myeloma presentation

A

The following are presenting clinical features of multiple myeloma:
Older adults - median age 60 years; male more than female
Anaemia
Bone pain - most common in the back or ribs; may present as a pathologic fracture following minimal trauma, especially of the femoral neck
Infection - commonly with encapsulated organisms such as Streptococcus pneumoniae, Haemophilus influenzae; due to suppression of antibody production and neutropenia
Hypercalcaemia - nausea, fatigue, confusion, polyuria, constipation
Weight loss is common
Hyperviscosity.
The hypercalcaemia is caused by osteoclast activating factors.

70
Q

SSRI overdose?

A

Unlike the tricyclic antidepressants, fluoxetine, like many of the SSRIs are safe in overdose and cause very few adverse effects.
Rarely, reports would suggest that tachycardia can occur together with:
tremor
drowsiness
nausea, and
vomiting.
Pupillary constriction or respiratory suppression suggests opiates.
Prolonged QRS complex is consistent with TCA overdose.

71
Q

Corneal haze?

A

Corneal haze in acute angle closure glaucoma is caused by oedema of the cornea which fails to maintain its usual state of dehydration when the intra-ocular pressure becomes high. Corneal haze can be seen with any of the above conditions but would typically be most pronounced in angle closure glaucoma or a very large corneal abrasion.

72
Q

Serotonin syndrome?

A

It is characterised by:
Extremes of temperature (and in life threatening cases this can rise above 41.5°C)
Mental agitation and confusion
Hypertonia
Hyperreflexia
Clonus.
Often the signs are more obvious in the lower limbs than upper and there may be muscle twitching and the inability to lie still. The pupils are typically dilated and the skin is sweaty. Blood results may show metabolic acidosis and renal failure with rhabdomyolysis. Cardiac dysrhythmias may develop in association with hyperkalaemia.
The serotonergic toxidrome is caused by a flooding of the central nervous system with excess serotonin; there are many drugs which can cause this to happen, including all the antidepressants to some extent and by various mechanisms. Fluoxetine is a selective serotonin reuptake inhibitor (SSRI) which blocks the uptake of the neurotransmitter serotonin at the post-synaptic cleft and leads to higher synaptic levels of serotonin.
Other neuropsychiatrically active drugs such as monoamine oxidase inhibitors, tricyclic antidepressants and antipsychotic drugs all modulate the metabolism of serotonin to some degree and can be implicated in the development of the serotonergic toxidrome. Other drugs such as opioid analgesics (tramadol and pethidine) can cause excess serotonin levels, as can various herbal remedies including:
St John’s wort
Antimigraine class of drug ‘triptans’
Antiemetics, such as ondansetron
The antibiotic linezolid.
It is also very important to recognise that many recreational drugs augment serotonin pharmacodynamics and it is important to identify if patients have taken cocaine, ecstasy (MDMA), LSD, amphetamines or any of the newer similar drugs such as GHB.
Deliberate overdosage is a common cause of serotonergic toxidrome but it is worth noting that it may occur inadvertently. In patients taking multiple drugs that affect the metabolism and usage of serotonin this risk is significantly increased, particularly if the mechanism of serotonin modulation is different. Patients are often not aware of the potential dangers of taking recreational drugs in combination with antidepressants and doctors often prescribe drugs such as tramadol and ondansetron in combination with antidepressants without considering the potential interactions.
Life threatening serotonergic toxidrome is a medical emergency and patients will likely need admission to the intensive care unit for haemofiltration, intubation, paralysis and artificial cooling to control the temperature and manage the rhabdomyolysis. Serotonin antagonists such as cyproheptadine may be given.
Tachycardia and hypertension can be controlled with intravenous short acting beta blockade such as metoprolol or esmolol. Agitation may be treated with benzodiazepines. The hyperpyrexia associated with serotonergic toxidrome arises from sustained isotonic muscle contractions and is not hypothalamically mediated so there is no benefit in giving paracetamol to control temperature.
The serotonergic toxidrome is a relatively specific presentation, typically of rapid onset, and while other drugs may display some similar features, it is unlikely the other drugs listed in the question will cause this picture.

73
Q

TCA overdose?

A

Features of a tricyclic overdose are due to a combination of anticholinergic effects within the brain and on the autonomic nervous system and also because of blockade of α1 adrenergic receptors. Amitriptyline is significantly cardiotoxic as it also blocks the cardiac delayed rectifier potassium channel (IKr).
Symptoms include:
Tachycardia
Hot dry skin
Dry mucous membranes
Dilated pupils
Urinary retention
Ileus
Ataxia
Nystagmus
Coma
Respiratory depression
Hyperreflexia
Extensor plantar response
Cardiac failure
Profound hypotension, and
Convulsions.
Often the ECG is grossly abnormal with significant prolongation of the PR and QT intervals and also the QRS complex. There may also be conduction delay and ventricular tachycardia. Significant metabolic acidosis is present as a consequence of the acidity of the drug and also rhabdomyolysis and renal failure.
Data collected from meta-analyses studying significant overdoses over long periods have shown that rapid correction of the severe acidosis leads to an improved outcome and greatly reduces the risk of fatal arrhythmia. Intravenous 8.4% sodium bicarbonate solution is recommended in patients where there is a documented acidosis and in patients presenting in cardiac arrest. Even in the absence of a significant acidosis, if there is evidence of prolongation of the PR, QT or QRS, bicarbonate is recommended, aiming for a pH of 7.5 on sequential blood gas analysis.
In cardiac arrest patients, IV bicarbonate should be considered as an early adjunct to usual ALS protocols and certainly should be tried before resuscitation attempts are abandoned. It is worth noting that 8.4% bicarbonate solution is highly irritant and should be delivered via a central vein if possible, however this is often impractical in arrest situations. A fluid bolus should also be given and response monitored.
Newer research into the treatment of tricyclic overdose advocates the use of the lipid suspension Intralipid at the dose of 1.5 ml/kg as a bolus to stabilise the myocardium in instances where bicarbonate has been ineffective or cardiac arrhythmias persist despite adequate alkalinisation of the blood. Intralipid should usually be considered a second line agent and hence is not the correct answer in this case.
Glucagon is often given in tricyclic overdoses when the patient develops cardiac failure or profound hypotension refractory to fluids as a bridge before inotropic support can be instigated. It works by upregulating cAMP signalling in the myocardium and increasing cardiac output. It has no place in the management of patients in cardiac arrest.
There is evidence that patients with tricyclic overdoses have been resuscitated with good neurological recovery even after prolonged down-times. Generally, it is recommended that resuscitation attempts should continue for at least 60 minutes in the absence of significant co-morbidity, despite the biochemical picture from the arterial gas analysis.

74
Q

NMS?

A

Neuroleptic malignant syndrome (NMS) is a potentially life threatening condition occasionally associated with the long term use of many antipsychotic drugs. It should be considered as the cause of deterioration in any patient taking any potentially causative drug, particularly if there has been a recent dose increase. Unfortunately, it is often diagnosed late as it is a great mimicker and can be mistaken for various other conditions, including the underlying psychiatric condition, and patients may be given more of the drug causing the problem initially. NMS is caused by modulation of dopamine in the brain and massive release of calcium from the sarcoplasmic reticulum. This occurs due to activation of the ryanodine receptor, which normally mediates release of sarcoplasmic calcium in response to sarcolemmal depolarisation. However in patients with NMS (and also in malignant hyperpyrexia) there is persistent activation of the ryanodine receptor, which causes high metabolic activity in muscles that generates pyrexia and rhabdomylosis. The underlying defect in the receptor is inherited as an autosomal dominant trait.
Features of NMS include extreme muscle rigidity and parkinsonism due to high degree blockade of dopaminergic neurotransmission within the nigrostriatal pathways of the basal ganglia. Often patients will be unable to lie on the bed for examination due to fixed muscle rigidity and contracture. Tremor may or may not be present. High circulating concentrations of calcium increase muscle contractility and this hyperactivity of musculature leads to extreme hyperpyrexia, rhabdomyolysis and renal failure. Biochemical evidence of all the above can be seen in the vignette.
There is almost always extreme agitation and confusion and there may be fluctuations in consciousness due to blockade in both the mesolimbic system and the reticular activating system of the brainstem. Dopamine blockade also causes autonomic instability and there may well be labile blood pressure with tachycardia and even cardiovascular collapse. White cell count is often extremely elevated as well due to the rhabdomyolysis and this, coupled with pyrexia, often leads to a misdiagnosis of sepsis; clearly this needs to be excluded by careful examination and further testing but NMS must be considered in these patients. NMS patients often present with extreme sweating due to failure of the autonomic system and NMS is sometimes known as ‘sweat shock syndrome’ due to this.
Treatment of NMS is IV fluid rehydration, dantrolene (an antagonist of the ryanodine receptor) and bromocriptine (a dopamine agonist that acts centrally).

75
Q

Laryngeal carcinoma referred pain?

A

Ear - The convergence projection theory is currently the accepted theory to explain the mechanism of referred pain from the larynx to the ear. Sensory afferent nerve fibres from cranial nerves and C2 and C3 spinal roots which innervate the head and neck and ear converge along a common sensory neuronal pathway when entering the central nervous system (CNS). Therefore because they converge and enter the CNS along the same point, the CNS is unable to pinpoint from where the source of pain is coming.

76
Q

Reinke’s oedema?

A

Reinke’s oedema is typically caused by recent strain on the vocal cords. For example, this might classically affect opera singers after a performance. The strain causes subepithelial infiltration of interstitial fluid into the vocal cords causing oedema.

77
Q

Depersonalisation vs derealisation?

A

Depersonalisation refers to the feeling that you yourself are not real, as distinct from derealisation that refers to a feeling of unreality such that the world seems not to be real.

78
Q

Erythema nodosum causes?

A
Common causes include: 
Streptococcal infection
Upper respiratory tract infection
Sarcoidosis
Inflammatory bowel disease.
Less common causes include:
TB
Histoplasmosis
Coccidioidomycosis
Psittacosis
Cat scratch fever
Yersinia infection
Salmonellosis
Chlamydial infection
Drugs (oral contraceptive, sulfonamides (eg. co-trimoxazole), aspartame, bromides, iodides).
79
Q

Kernicterus chronic hyperbilirubinaemia triad?

A

athetosis
gaze disturbance, and
hearing loss.

80
Q

Prader willi?

A
Prader-Willi is associated with a deletion on the paternal 15q in 70% of cases - Angelman's syndrome is associated with a deletion on the maternally inherited 15q in approximately 80% of cases.
Prader-Willi is associated with:
neonatal hypotonia and poor feeding
moderate mental handicap
small genitalia
hyperphagia, and
obesity in later childhood.
81
Q

Galactasemia?

A

Auto.dom mutation metabolic disorder. Galactosaemia may result from mutations in one of several enzymes in the pathway that converts galactose to glucose. Because of this there can be a broad spectrum of disease severity and clinical presentation.

Galactokinase (GALK; 17p24) mutations - cataracts are present in virtually all patients and may be bilateral, although severity probably varies depending on milk intake. Cataracts in children at birth have been documented although they are more commonly seen after several weeks of life. Some affected patients will also have mental retardation, seizures or complement deficiencies.

Galactose-1-phosphate uridytransferase (GALT; 9p13) mutations - tends to present as a life threatening illness within the first few weeks of life, causing poor feeding, poor weight gain, lethargy, vomiting, diarrhoea, hypotonia, hepatomegaly, jaundice and excessive bleeding/bruising. Cataracts are usually seen at presentation although in the first few weeks of life may only be visible using a slit lamp examination. Long term problems include ovarian failure, cognitive impairment and ataxia.

Uridine diphosphate galactose-4 epimerase (GALE; 1p36) mutations are often confined to the erythrocytes and can be asymptomatic in many patients.
Generalised GALE deficiency is very rare but causes a more severe phenotype.

82
Q

Roseola infatum?

A

Roseola infantum (also known as exanthem subitum, occasionally sixth disease) is a common disease of infancy caused by the human herpes virus 6 (HHV6). It has an incubation period of 5-15 days and typically affects children aged 6 months to 2 years.

Features
high fever: lasting a few days, followed by a
maculopapular rash
febrile convulsions occur in around 10-15%
diarrhoea and cough are also commonly seen

Other possible consequences of HHV6 infection
aseptic meningitis
hepatitis

Roseola = HHV 6

Parvovirus = Slapped cheek

83
Q

Pulsus alternans?

A

A physical finding with arterial pulse waveform showing alternating strong and weak beats. It is almost always indicative of left ventricular systolic impairment, and carries a poor prognosis.

84
Q

ASD closure?

A

ASDs often close spontaneously and the chance of spontaneous closure is related to size, that is, 5-8 mm 80% closure, whereas if the defect is greater than 8 mm then there is little chance of closure.

85
Q

Downsyndrome endocardial cushion defect?

A

In Down’s syndrome with an endocardial cushion defect, irreversible pulmonary hypertension occurs earlier than in children with normal chromosomes

86
Q

CHD: Splitting?

A

‘Splitting’ refers to separation of the aortic (A2) and pulmonary (P2) components of the second heart sound (S2).

‘Normal/physiological’ splitting occurs in inspiration only, when P2 is after A2. During expiration there is no splitting and only a single S2 is heard.

‘Fixed splitting’ is a feature of an atrial septal defect (ASD), not a VSD. This is when P2 is delayed (and after A2) during BOTH inspiration and expiration.
‘Reversed splitting’ occurs in severe aortic stenosis and that is when A2 occurs after P2.

87
Q

Which of the following is not a feature of Down’s syndrome?

A third fontanelle

Ataxic gait

Duodenal atresia

Increased incidence of hypothyroidism

Susceptibility to acute leukaemia

A

Ataxic gait

Cerebellar dysfunction is not a feature of Down’s syndrome, however an Alzheimer’s-like syndrome of memory loss and cognitive decline develops when patients reach the mid thirties.

88
Q

Turners?

A

—> assess femoral pulse if short stature to check for coarctation

Turner’s syndrome is a chromosomal disorder affecting around 1 in 2,500 females. It is caused by either the presence of only one sex chromosome (X) or a deletion of the short arm of one of the X chromosomes. Turner’s syndrome is denoted as 45,XO or 45,X

Features
short stature
shield chest, widely spaced nipples
webbed neck
bicuspid aortic valve (15%), coarctation of the aorta (5-10%)
primary amenorrhoea
cystic hygroma (often diagnosed prenatally)
high-arched palate
short fourth metacarpal
multiple pigmented naevi
lymphoedema in neonates (especially feet)

There is also an increased incidence of autoimmune disease (especially autoimmune thyroiditis) and Crohn’s disease

BONE AGE DELAYED BY 2 YRs

89
Q

Causes of advanced bone age?

A

CAH
Precocious puberty
Obesity due to overeating/under exercising

90
Q

ITP?

A

Idiopathic thrombocytopenic purpura (ITP) is an immune mediated reduction in the platelet count. Antibodies are directed against the glycoprotein IIb/IIIa or Ib-V-IX complex.

ITP can be divided into acute and chronic forms:

Acute ITP
more commonly seen in children
equal sex incidence
may follow an infection or vaccination
usually runs a self-limiting course over 1-2 weeks

Chronic ITP
more common in young/middle-aged women
tends to run a relapsing-remitting course

Evan’s syndrome
ITP in association with autoimmune haemolytic anaemia (AIHA)

The clotting time will be normal as the coagulation factors are not affected.

91
Q

Hereditary spherocytosis?

A

The disease is usually transmitted in an autosomal dominant fashion.
Some forms can present in the neonatal period but overall there is a large spectrum of clinical disease.
Splenomegaly is common.
Haemolysis occurs and the blood film can look similar to autoimmune haemolytic anaemia.
The Coombs’ test is negative in hereditary spherocytosis which helps distinguish the two conditions.
Splenectomy stops further haemolysis and the patient can lead a normal life. The timing of splenectomy is very individual - ideally it will be done after 5 years old when the chances of life-threatening encapsulated bacterial infection reduce.

92
Q

AVSD?

A

The AVSD (AV canal defects) form a spectrum from complete canal defect to ostium primum ASD. In primum ASD there is a defect in the lower part of the atrial septum. In the complete canal defect there is also involvement of the medial part of the tricuspid and mitral valves, and in the upper part of the ventricular septum. Hence there are overlapping murmurs of ASD, VSD, tricuspid and mitral regurgitation together with heart failure.

93
Q

Which drugs exacerbate psoriasis?

A

Beta-blockers are well known to induce psoriasis or to exacerbate existing psoriasis.
Non-steroidal anti-inflammatory drugs, antimalarials, and lithium may exacerbate psoriasis, contributing to erythrodermic and pustular eruptions.
Reactions may occur from less than one month to one year after the medication is initiated.
Tapering doses of steroids may also produce exacerbation of psoriasis.

94
Q

Langerhans cell histiocytosis

A

Diabetes insipidus + lytic bone lesions + exopthalmos

95
Q

Osteomyelitis organism?

A

The commonest infecting organism in acute osteomyelitis in children over the age of 4 years is Staphylococcus aureus.
With immunisation, cases of haematogenous osteomyelitis due to Haemophilus influenzae have almost been eradicated.
Salmonella is the characteristic organism in sickle cell anaemia.
Pseudomonas infection is a common organism in haemodialysis patients and intravenous drug addicts.

96
Q

Behcets?

A

Behcet’s disease is a rare multisystem vasculitis more common in males than females.
Clinical features include the classical triad of:
Recurrent oral ulceration
Recurrent genital ulceration, and
Iritis.
Other features include:
Fever
Abdominal pain
Diarrhoea
Episcleritis
Polyarteritis
Arterial and venous thromboses, and
Pericarditis.
Patients may exhibit pathergy (development of pustules at venepuncture sites).
HLA B5 is associated with ocular disease; HLA B12 is associated with recurrent oral ulcers.
Treatment is with steroids or colchicine.

97
Q

MUMPs sequalae

A
Parotitis, oophoritis and orchitis occur frequently in the condition. Another clinical manifestations of mumps is acute pancreatitis.
Sequelae may include:
Meningoencephalitis
Arthritis
Transverse myelitis
Cerebellar ataxia, and
Deafness.
DIC is not an expected feature of the condition.
98
Q

What should do test for with coeliac

A

Anti-TTG is used as a screening test due to sensitivity of nearly 100%. Anti-endomysial antibodies are observer-dependent and are more expensive so are not recommended as a first line screening test. Antigliadin is rarely measured due to its lower accuracy. IgA levels must also be measured because IgA-deficient patients may be asymptomatic and it causes a false-negative anti-TTG test.

99
Q

What causes closure of the fetal shunts?

A

In the fetus the umbilical vein conveys oxygenated blood from the placenta to the ductus venosus and back to the inferior vena cava. After birth, when the placenta is born and the umbilical cord is clamped, flow in the umbilical vein reduces to zero. Gradually the vein fibroses to form the umbilical ligament, an extension of the ligamentum teres hepatis that attaches to the umbilicus. In states of raised portal pressure (for example, cirrhosis) the umbilical vein may re-open.

This is in contrast to closure of the ductus arteriosus, which is a more complex process. Increased arterial oxygen tension causes a reduction in prostaglandin production and results in contraction of the ductus arteriosus. Raised prostaglandin levels keep the ductus arteriosus open.

Pulmonary arterial pressures fall at birth due to air entry in the lungs. This reverses flow through the foramen ovale in atrial septum and results in its closure.

100
Q

What does cox inhibition in first 48 hrs of life do?

A

COX inhibition reduces prostaglandins, which are needed for patency of the ductus arteriosus.
In fetal life the ductus arteriosus transmits blood from the pulmonary trunk to the arch of the aorta, attaching between the origins of the left common carotid and left subclavian arteries. Prostaglandins vasodilate the ductus arteriosus and are needed to maintain its patency. At birth there is an increase in arterial oxygen tension which results in a fall in prostaglandin production. (This is due to oxygen-dependent re-esterification of arachidonic acid, the precursor for prostaglandins.) When the vasodilating influence of prostaglandins is removed the ductus begins to constrict and over 24-48 hours it completely fibroses.
Administration of a cyclo-oxygenase inhibitor (for example, indomethacin) artificially reduces prostaglandin levels and promotes ductus closure. This is used as a therapy in patent ductus arteriosus.
In contrast, some congenital cardiac defects are ‘duct-dependent’ such that they rely on patency of the ductus arteriosus to maintain systemic circulation, for example, hypoplastic left heart. In these cases, prostaglandin infusions are given to keep the duct open.

101
Q

When does a newborn start producing immunoglobulin?

A

Immunoglobulin production begins after six months - for the first three months maternal IgG provides most antibody cover to the infant. This means that infants are most susceptible to encapsulated bacterial infection between 3 and 9 months.

102
Q

When do the fontanelles close?

A

Posterior fontanelle closes at eight weeks but the anterior fontanelle closes between 12 and 18 months. An increasing head circumference in a child where the fontanelles have not closed is suggestive of rising intracranial pressure, especially with a full anterior fontanelle. Potential causes include hydrocephalus or an intracranial mass, for example, medulloblastoma. A suitable first line investigation would be ultrasound through the anterior fontanelle, which would be able to demonstrate ventricular dilatation.

103
Q

Sweat test CF results?

A

The sweat test is first line for diagnosis of CF, which demonstrates low sodium and chloride excretion in affected children.

104
Q

Rheumatic fever cardiac findings

A

The pancarditis causes a sustained tachycardia that is particularly prominent at night with loss of normal nocturnal bradycardia and sinus arrhythmia. Conduction abnormalities, including prolonged PR interval, are reported and are included in the diagnostic criteria. Pericarditis may be found clinically with a pericardial rub. In addition patients may have features typical of congestive cardiac failure, including cardiomegaly.
Several murmurs are recognised:
Aortic regurgitation causing an early diastolic murmur best heard at the left sternal border in expiration with the patient leaning forward
Mitral regurgitation causing a pansystolic murmur best heard at the apex in expiration radiating into the axilla
The Carey Coombs murmur, which is a mid-diastolic murmur best heard at the apex. This is not due to mitral stenosis but endocarditis of the mitral valves causes thickening and turbulent blood flow that produces the murmur.

105
Q

ASD..it’s a long one

A
Atrial septal defects are often asymptomatic and characteristically produce fixed splitting of the second heart sound.
Atrial septal defects (ASDs) are of three types:
Ostium primum
Ostium secundum and
Venous sinosus (a patent foramen ovale is not classed as an ASD).
They are interesting as even quite large defects often remain asymptomatic into adulthood. They are often picked up opportunistically during auscultation, the main finding being fixed splitting of the second heart sound.
Consider the flow of blood in this 5-year-old and assume that her ASD is quite large. Blood returns from the pulmonary veins into the left atrium. Diastole begins, the mitral and tricuspid valves open and blood has a 'choice' of how to leave the left atrium: either through the mitral valve or through the ASD. Assuming that the ASD is large enough not to be a limitation to flow, the only determining factor as to how much blood flows across the ASD is the difference in compliance between the left and right ventricles.
In general, the right ventricle is greatly more compliant than the left, owing to its thinner wall and its crescent shape, allowing it to be deformed much more readily than the left ventricle. This allows blood to flow preferentially from the left atrium into the right atrium and onwards through the right ventricle into the pulmonary circulation and back into the left atrium. This causes volume overload of the right sided circulation, resulting in right atrial and ventricular hypertrophy, which manifests on an ECG as tall P waves and often with an rSr' pattern in V1. This also increases the naturally small splitting of the second heart sound (S2).
The right ventricle normally takes slightly longer to fill than the left ventricle causing two parts of S2 to be heard - the closure of the aortic valve first (A2), followed by the pulmonary valve (P2). This splitting normally varies with ventilation.
During inspiration, intrathoracic pressure drops and venous return increases, in turn increasing the volume of the right ventricle and so the time it takes to empty, thereby widening the splitting.
In expiration, as intrathoracic pressure increases and venous return decreases, this process is reversed and so the splitting narrows. The extra flow through the right side due to an ASD causes the splitting to be widened but it is the lack of variation with ventilation that suggests an intra-atrial connection is the cause.
During inspiration, venous return to the right side is maximal. During expiration, no closing of the gap occurs for two reasons. Firstly, pulmonary venous return to the left atrium increases as the lung parenchyma squeezes down on its vasculature. Secondly, there is less volume in the right ventricle relative to during inspiration and so it is not as far along its volume/compliance curve, that is, it has more room to fill. This room to fill plus extra blood available from the left atrium to fill it means that the volume of blood on the right side remains at a relatively constant increased level, resulting in a wide fixed splitting of the second heart sound.
The extra flow over the pulmonary valve can produce a soft mid-systolic murmur which, in the absence of wide fixed splitting, may well be interpreted as an innocent flow murmur. There may also be a soft diastolic murmur of increased flow over the tricuspid valve. The soft, innocent nature of these murmurs explains why ASDs are often missed on clinical examination as often the only clue is the wide fixed splitting of the second heart sound coupled with the area that the murmurs are heard loudest.
Although ASDs are often asymptomatic in early life, as the pulmonary vascular resistance increases with age through adulthood, the right sided circulation can become pressure overloaded, leading to right ventricular failure. They also allow for paradoxical embolisation of venous clots into the systemic circulation, increasing the risk of infarctions such as stroke. They should usually, therefore, be closed.
106
Q

Down syndrome: Most common cardiac abnormalities?

A

Atrioventricular septal defect, ventricular septal defect, tetralogy of Fallot, atrial septal defect, patent ductus arteriosus

107
Q

Bisphosphonates & renal failure

A

CI if GFR Can cause hypocalcaemia though

108
Q

Trimethoprim & Potassium?

A

Acts similarly to amiloride, blocking K+ channels, leading to a rise in Potassium

109
Q

Non-small cell lung cancer?

A

80% of lung cancers

Squamous cell cancer
typically central
Cavitating lesions
associated with parathyroid hormone-related protein (PTHrP) secretion → hypercalcaemia
strongly associated with finger clubbing
hypertrophic pulmonary osteoarthropathy (HPOA)

Adenocarcinoma
typically peripheral
most common type of lung cancer in non-smokers, although the majority of patients who develop lung adenocarcinoma are smokers

Large cell lung carcinoma
typically peripheral
anaplastic, poorly differentiated tumours with a poor prognosis
may secrete β-hCG

110
Q

Small Cell lung cancer?

A

usually central
arise from APUD* cells
associated with ectopic ADH, ACTH secretion
ADH → hyponatraemia
ACTH → Cushing’s syndrome
ACTH secretion can cause bilateral adrenal hyperplasia, the high levels of cortisol can lead to hypokalaemic alkalosis
Lambert-Eaton syndrome: antibodies to voltage gated calcium channels causing myasthenic like syndrome

111
Q

Lung cancer: Paraneoplastic features?

A

Small cell
ADH - hyponatraemia
ACTH - not typical, hypertension, hyperglycaemia, hypokalaemia, alkalosis and muscle weakness are more common than buffalo hump etc
Lambert-Eaton syndrome

Squamous cell
parathyroid hormone-related protein (PTH-rp) secretion causing hypercalcaemia
clubbing
hypertrophic pulmonary osteoarthropathy (HPOA)
hyperthyroidism due to ectopic TSH

Adenocarcinoma
gynaecomastia

112
Q

GAD Mx?

A

Management of generalised anxiety disorder (GAD)

NICE suggest a step-wise approach:
step 1: education about GAD + active monitoring
step 2: low intensity psychological interventions (individual non-facilitated self-help or individual guided self-help or psychoeducational groups)
step 3: high intensity psychological interventions (cognitive behavioural therapy or applied relaxation) or drug treatment. See drug treatment below for more information
step 4: highly specialist input e.g. Multi agency teams

Drug treatment
NICE suggest sertraline should be considered the first-line SSRI
interestingly for patients under the age of 30 years NICE recommend you warn patients of the increased risk of suicidal thinking and self-harm. Weekly follow-up is recommended for the first month

113
Q

Myopia/Hypermetropia risks?

A

Myopia = Retinal detachment

Hypermetropia = Acute angle closure glaucoma

114
Q

Endopthalmitis?

A

Inflammation of internal coats of eye

115
Q

Oculomotor nerve palsy: Pupil involvement?

A

Pupil involvement implies a compressive cause and the rapid painful onset suggests an expanding lesion. eg. PCA aneurysm –> Oculomotor nerve palsy

116
Q

Horner’s Ix?

A

Cocaine will only dilate normal pupil (prevents NA reuptake, and in Horner’s, will be no NA secretion)

117
Q

Which vaccine should be delayed in unwell kids?

A

DTP: vaccination should be deferred in children with an evolving or unstable neurological condition

Seasonal influenza vaccine:
Contraindications
immunocompromised
aged

118
Q

Paediatric dehydration oral replacement?

A

50ml/kg over 4 hrs + maintenance

consider giving the ORS solution via a nasogastric tube if they are unable to drink it or if they vomit persistently

Treat suspected or confirmed shock with a rapid intravenous infusion of 20 ml/kg of 0.9% sodium chloride solution.

If a child remains shocked after the first rapid intravenous infusion:

immediately give another rapid intravenous infusion of 20 ml/kg of 0.9% sodium chloride solution and

119
Q

Rheumatic fever cause?

A

GAS - Strep pyogenes

Diagnosis is based on evidence of recent streptococcal infection accompanied by:
2 major criteria
1 major with 2 minor criteria

Evidence of recent streptococcal infection
ASOT > 200iu/mL
history of scarlet fever
positive throat swab
increase in DNase B titre
Major criteria
erythema marginatum
Sydenham's chorea
polyarthritis
carditis (endo-, myo- or peri-)
subcutaneous nodules
Minor criteria
raised ESR or CRP
pyrexia
arthralgia (not if arthritis a major criteria)
prolonged PR interval
120
Q

Causes and tests for prolonged jaundice?

A

If there are still signs of jaundice after 14 days a prolonged jaundice screen is performed, including:
conjugated and unconjugated bilirubin: the most important test as a raised conjugated bilirubin could indicate biliary atresia which requires urgent surgical intervention
direct antiglobulin test (Coombs’ test)
TFTs
FBC and blood film
urine for MC&S and reducing sugars
U&Es and LFTs

Causes of prolonged jaundice
biliary atresia
hypothyroidism
galactosaemia
urinary tract infection
breast milk jaundice
congenital infections e.g. CMV, toxoplasmosis
121
Q

Beckwith-Wiedemann?

A

= Big babies

Over-growth

  • Large for dates
  • Large organs, may have exomphalos because of bowel overgrowth
  • Characteristic earlobe creases
  • Become hypoglycaemic because of increased insulin levels
122
Q

Cows milk protein intolerance Mx?

A

Management if formula-fed
extensive hydrolysed formula (eHF) milk is the first-line replacement formula for infants with mild-moderate symptoms
amino acid-based formula (AAF) in infants with severe CMPA or if no response to eHF
around 10% of infants are also intolerant to soya milk

Management if breast-fed
continue breastfeeding
eliminate cow’s milk protein from maternal diet
use eHF milk when breastfeeding stops, until 12 months of age and at least for 6 months

CMPI usually resolves by 1-2 years of age. A challenge is often performed in the hospital setting as anaphylaxis can occur.

123
Q

DMD vs BMD?

A

Overview
X-linked recessive
due to mutation in the gene encoding dystrophin, dystrophin gene on Xp21
dystrophin is part of a large membrane associated protein in muscle which connects the muscle membrane to actin, part of the muscle cytoskeleton
in Duchenne muscular dystrophy there is a frameshift mutation resulting in one or both of the binding sites are lost leading to a severe form
in Becker muscular dystrophy there is a non-frameshift insertion in the dystrophin gene resulting in both binding sites being preserved leading to a milder form

Duchenne muscular dystrophy
progressive proximal muscle weakness from 5 years
calf pseudohypertrophy
Gower’s sign: child uses arms to stand up from a squatted position
30% of patients have intellectual impairment

Becker muscular dystrophy
develops after the age of 10 years
intellectual impairment much less common

124
Q

COCP cancer risk?

A

increased risk of breast and cervical cancer

protective against ovarian, endometrial and CRC

125
Q

Measles complications?

A
encephalitis: typically occurs 1-2 weeks following the onset of the illness)
subacute sclerosing panencephalitis: very rare, may present 5-10 years following the illness
febrile convulsions
giant cell pneumonia
keratoconjunctivitis, corneal ulceration
diarrhoea
increased incidence of appendicitis
myocarditis
126
Q

Acute fatty liver of pregnancy?

A

Acute fatty liver of pregnancy is rare complication which may occur in the third trimester or the period immediately following delivery.

Features
abdominal pain
nausea & vomiting
headache
jaundice
hypoglycaemia
severe disease may result in pre-eclampsia

Investigations
ALT is typically elevated e.g. 500 u/l

Management
support care
once stabilised delivery is the definitive management

127
Q

Pyoderma gangrenosum causes?

A
Causes*
idiopathic in 50%
inflammatory bowel disease: ulcerative colitis, Crohn's
rheumatoid arthritis, SLE
myeloproliferative disorders
lymphoma, myeloid leukaemias
monoclonal gammopathy (IgA)
primary biliary cirrhosis

Management
the potential for rapid progression is high in most patients and most doctors advocate oral steroids as first-line treatment
other immunosuppressive therapy, for example ciclosporin and infliximab, have a role in difficult cases

128
Q

Perineal tear degrees?

A
  • 1st degree = tear within vaginal mucosa only
  • 2nd degree = tear into subcutaneous tissue
  • 3rd degree = laceration extends into external anal sphincter
  • 4th degree = laceration extends through external anal sphincter into rectal mucosa

3a: less than 50% of EAS thickness torn
3b: more than 50% of EAS thickness torn
3c: IAS torn

129
Q

Endometriosis Mx?

A

Management depends on clinical features - there is poor correlation between laparoscopic findings and severity of symptoms
NSAIDs and other analgesia for symptomatic relief
combined oral contraceptive pill
progestogens e.g. medroxyprogesterone acetate
gonadotrophin-releasing hormone (GnRH) analogues - said to induce a ‘pseudomenopause’ due to the low oestrogen levels
intrauterine system (Mirena)
drug therapy unfortunately does not seem to have a significant impact on fertility rates

Surgery
some treatments such as laparoscopic excision and laser treatment of endometriotic ovarian cysts may improve fertility

130
Q

Tx of C.diff?

A

Withdraw current abx + treat with Metronidazole/ Vancomycin if severe

131
Q

Down’s screening

A

Combined test (10-14): AFP + BHCG (raised) + PAPPa ( reduced)

Quadruple Test (14-20) : AFP (Low) + Oestriol (low) + inhibin A (raised) + BHCG (High)

132
Q

Mx of migraine in children?

A

Acute:

  • Ibuprofen > Paracetamol
  • Triptans (5HT Agonist) only by specialised
  • Sumatriptan spray SE Tingling, heat, heaviness

Prophylaxis:
Pizotifen (5HT antagonist)/ Propanolol

  1. Valproate, topiramate and amitryptiline
133
Q

Pregnancy anaemia values?

A

Booking visit

134
Q

COCP exclusion criteria

A

Cut-off age for smoker = 35 (>15/day)

Cut off BMI = 35kg/M

Persistant BP > 160/95

Examples of UKMEC 3 :
more than 35 years old and smoking less than 15 cigarettes/day
BMI > 35 kg/m^2*
migraine without aura and more than 35 years old
family history of thromboembolic disease in first degree relatives

135
Q

Rheumatology autoantibodies

A

RA: RF (70%), Anti-CCP (98%), ANA+ve (30%)

Gout: -ve birefringent

Sjogrens: RF, Ro, La

SLE: Ds-DNA, Anti-histone in drug induced, SM, RNP

Poly/dermatomyositis: Jo-1

Diffuse systemic sclerosis : Scl-70

CREST (limited cutaneous): - Anti-centromere

PBC: Women, 50s, IgM, AMA +ve

PSC: Males, UC, pANCA (80%), ANA and SMA

136
Q

Causes of drug induced lupus?

A

Procainamide

Phenytoin

Hydralazine

Isoniazid

137
Q

Lumbar puncture interpretation

A

Bacterial : Cloudy , PMN, Increased Cell count, Decreased glucose (1.5)

Viral: Clear, lymphocyte/monocyte, Glucose > 50%, Protein

138
Q

Psych eponymous syndromes

A

• De Clerambaults syndrome/Erotomania - Delusion that a person of high-standing is in
love with them.
• Othello’s syndrome - Morbid jealousy Obsession their partner is cheating.
• Folie a deux - A shared delusion between two family members
• Couvade syndrome - Man feels physical side effects of partners pregnancy
• Capgras Delusion - Loved one has been replaced by an imposter
• Fregoli’s Delusion - Loved one is impersonating other people
• Cotards Delusion - Belief that they are dead. Assoc depression with psychosis.
• Ekboms Syndrome - Tactile hallucinations of parasitic infestations.

139
Q

Alcohol withdrawl Mx

A

Out-patient detoxification (majority)
• Oralthiamine and reducing dose chlordiazepoxide.

Inpatient (previous DT’s/seizures or coincidental)
• IV pabrinex bags 1+2, oral chlordiazepoxide.
• If high risk of seizures, cover with diazepam (quicker onset of action than chlordiazepoxide).

140
Q

Psych defence mechanisms

A
  • Sublimation: modifying unacceptable desires to make them acceptable. E.g. A person who has an obsessive need for control and order becomes a successful business entrepreneur.
  • Projection: internal issues are attributed to an external cause
  • Acting out: unacceptable behaviour in response to conflict e.g. self-harm
  • Reaction formation: opposite reaction to hide true feelings
  • Splitting: people are either all good or all bad.
141
Q

Live attenuated vaccines?

A
Live attenuated vaccines
BCG
MMR
oral polio
yellow fever
oral typhoid
Intranasal influenza
142
Q

Mode of emergency contraception

A

Levonorgestrel (Levonelle): Inhibits ovulation

Ulipristal (Ella one): Inhibits ovulation

Intrauterine contraceptive device Primary: Toxic to sperm and ovum
Also: Inhibits implantation

143
Q

Modes of contraception short:

A

COCP: Inhibit ovulation

POP: Thickens mucus

IUS: Prevents endometrial proliferation (+ thickens mucus)

IUD: Decrease sperm motility & Survival

Implant/Injection: Inhibit ovulation (+ Thicken mucus)

144
Q

prevention of specific types of renal stones

A

Calcium stones may be due to hypercalciuria, which is found in up to 5-10% of the general population.
high fluid intake
low animal protein, low salt diet (a low calcium diet has not been shown to be superior to a normocalcaemic diet)
thiazides diuretics (increase distal tubular calcium resorption)

Oxalate stones
cholestyramine reduces urinary oxalate secretion
pyridoxine reduces urinary oxalate secretion

Uric acid stones
allopurinol
urinary alkalinization e.g. oral bicarbonate

145
Q

Breast feeding CI

A

The following drugs can be given to mothers who are breast feeding:
antibiotics: penicillins, cephalosporins, trimethoprim
endocrine: glucocorticoids (avoid high doses), levothyroxine*
epilepsy: sodium valproate, carbamazepine
asthma: salbutamol, theophyllines
psychiatric drugs: tricyclic antidepressants, antipsychotics**
hypertension: beta-blockers, hydralazine
anticoagulants: warfarin, heparin
digoxin

The following drugs should be avoided:
antibiotics: ciprofloxacin, tetracycline, chloramphenicol, sulphonamides
psychiatric drugs: lithium, benzodiazepines
aspirin
carbimazole
sulphonylureas
cytotoxic drugs
amiodarone
146
Q

Syndromes

A

Patau ((13) - Small head , eyes, cleft lip.palate

Edwards (18): Small jaw, low ears, rockerbottom feet, overlapping fingers

Noonan: Webbed neck, short, PS, pectus excavatum

Piere Robin: Micro, Posterior displacement, Cleft palate

Turner: 45 XO: Short, shield chest, webbed neck, Coarctation, primary amenorrhoea, pigmened naevi

Neurofibromatosis: Aut-Dom Chr 17 (NF2: Chr 22)

G6PD: X linked recessive in meds

Hereditary sphero: Aut-Dom