SBA revision Flashcards

Question

Menopause hormone levels?

Answer 1

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.

Answer 2

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.

Answer 3

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.

Answer 4

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.

Answer 5

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.

Answer 6

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.

Answer 7

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.

Answer 8

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.

Answer 9

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.

Answer 10

Treatment should be supplemented with insulin to obtain a target HbA1c

Answer 11

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.

Answer 12

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.

Answer 13

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.

Answer 14

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.

Answer 15

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.

Answer 16

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.

Answer 17

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.

Answer 18

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.

Answer 19

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

Answer 20

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.

Answer 21

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.

Answer 22

``` 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.

Answer 23

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

Answer 24

``` Corticosteroids Heparin Cyclosporin Methotrexate, and Cytotoxic therapy. ```

Answer 25

After a period of three months of remaining stable and well

Answer 26

``` 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. ```

Answer 27

IV procyclidine

Answer 28

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.

Answer 29

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.

Answer 30

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.

Answer 31

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

Answer 32

``` 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). ```

Answer 33

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.

Answer 34

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.

Answer 35

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).

Answer 36

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

Answer 37

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).

Answer 38

``` 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). ```

Answer 39

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.

Answer 40

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.

Answer 41

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.

Answer 42

Birth: 0.3% 50-59%: 10% 60-69%: 25% 70-79: 50% 80-89%: 70-80%

Answer 43

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.

Answer 44

Osteogenic sarcoma complicates 5% of cases.

Answer 45

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.

Answer 46

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.

Answer 47

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.

Answer 48

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.

Answer 49

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.

Answer 50

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).

Answer 51

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.

Answer 52

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.

Answer 53

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.

Answer 54

``` 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). ```

Answer 55

athetosis gaze disturbance, and hearing loss.

Answer 56

``` 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. ```

Answer 57

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.

Answer 58

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

Answer 59

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.

Answer 60

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.

Answer 61

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

Answer 62

'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.

Answer 63

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.

Answer 64

---> 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

Answer 65

CAH Precocious puberty Obesity due to overeating/under exercising

Answer 66

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.

Answer 67

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.

Answer 68

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.

Answer 69

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.

Answer 70

Diabetes insipidus + lytic bone lesions + exopthalmos

Answer 71

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.

Answer 72

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.

Answer 73

``` 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. ```

Answer 74

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.

Answer 75

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.

Answer 76

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.

Answer 77

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.

Answer 78

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.

Answer 79

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

Answer 80

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.

Answer 81

``` 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. ```

Answer 82

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

Answer 83

CI if GFR Can cause hypocalcaemia though

Answer 84

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

Answer 85

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

Answer 86

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

Answer 87

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

Answer 88

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

Answer 89

Myopia = Retinal detachment Hypermetropia = Acute angle closure glaucoma

Answer 90

Inflammation of internal coats of eye

Answer 91

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

Answer 92

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

Answer 93

DTP: vaccination should be deferred in children with an evolving or unstable neurological condition Seasonal influenza vaccine: Contraindications immunocompromised aged

Answer 94

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

Answer 95

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 ```

Answer 96

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 ```

Answer 97

= 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

Answer 98

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.

Answer 99

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

Answer 100

increased risk of breast and cervical cancer | protective against ovarian, endometrial and CRC

Answer 101

``` 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 ```

Answer 102

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

Answer 103

``` 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

Answer 104

- 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

Answer 105

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

Answer 106

Withdraw current abx + treat with Metronidazole/ Vancomycin if severe

Answer 107

Combined test (10-14): AFP + BHCG (raised) + PAPPa ( reduced) Quadruple Test (14-20) : AFP (Low) + Oestriol (low) + inhibin A (raised) + BHCG (High)

Answer 108

Acute: - Ibuprofen > Paracetamol - Triptans (5HT Agonist) only by specialised - Sumatriptan spray SE Tingling, heat, heaviness Prophylaxis: Pizotifen (5HT antagonist)/ Propanolol 2. Valproate, topiramate and amitryptiline

Answer 109

Booking visit

Answer 110

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

Answer 111

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

Answer 112

Procainamide Phenytoin Hydralazine Isoniazid

Answer 113

Bacterial : Cloudy , PMN, Increased Cell count, Decreased glucose (1.5) Viral: Clear, lymphocyte/monocyte, Glucose > 50%, Protein

Answer 114

• 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.

Answer 115

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).

Answer 116

* 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.

Answer 117

``` Live attenuated vaccines BCG MMR oral polio yellow fever oral typhoid Intranasal influenza ```

Answer 118

Levonorgestrel (Levonelle): Inhibits ovulation Ulipristal (Ella one): Inhibits ovulation Intrauterine contraceptive device Primary: Toxic to sperm and ovum Also: Inhibits implantation

Answer 119

COCP: Inhibit ovulation POP: Thickens mucus IUS: Prevents endometrial proliferation (+ thickens mucus) IUD: Decrease sperm motility & Survival Implant/Injection: Inhibit ovulation (+ Thicken mucus)

Answer 120

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

Answer 121

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 ```

Answer 122

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