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Differences between beckers and duchenne's muscular dystrophy?
- Beckers is the nicer one!!
- - Age of onset 3-adulthood
- -Can have a near normal lifespan
- -Affects the heart with conduction abnorms rather than cardiomyopathy, may require pacemaker
- -can be wheelchair bound anywhere from early 20s to 70s.
What symptoms and bloods would you expect from a macroadenoma of the pituitary?
What is the best management if there are mass effects?
Symptoms = peripheral visual field loss, lethargy, erectile dysfuntion, galactorrhea
Bloods = Low TSH, Low testosterone, Low cortisol, low IGF-1, High prolactin because pressure effects stop dopamine coming down the stalk and inhibiting.
Features of NF-1 (von recklinghausens)?
- Chromosome 17
- Cafe-au-lait - dark brown patches
- Neurofibromas - skin or pink tan coloured nodules and papules
- Axillary freckling
- Lisch nodules - pigmented hamartomas on iris
- Phaechromo, opticglioma, astrocytomas
- Spinal nerve root involvement can lead to muscle wasting, cord compression and sensory loss that causes charcot footing.
Medications you can use to induce remission in Wegners?
- 3 days of IV methylpred + cyclophosphamide then lower dose orals
- IVIG if severely ill
- IV rituximab (anti CD20)
Side effects of clopidogrel?
- Rash, urticaria, GI upset
- TTP - fever, anaemia, thrombocytopenia, altered mental status, renal impairment, schistocytes on blood film, occurs in less than 1%
Drug of choice for trigeminal neuralgia?
How effective is surgery if medical management is ineffective?
90% response rate with microvascular decompression.
Why do renal transplant patients get Rosacea?
Ciclosporin causes sebhorreic hyperplasia especially if skin is exposed to excess sunlight.
Side effects of rituximab?
- Flu like symptoms - fevers, rigors, headaches, flushing, myalgia, lethargy
- Low BP during infusion
- Tumor pain
- Allergic reactions.
How effective is medical therapy at treating carpal tunnel? (splinting and local steroid injections)
What is the cut off for elevated carpal tunnel pressures?
Associated conditions of carpal tunnel?
22% experience complete relief with medical therapy only.
30mmhg = elevated pressures
Hypothyroid, Alcoholism, diabetes
treatment of choice for necrobiosis lipoidica?
Topical steroids, injectable steroids, skin grafts, camo creams.
Good prognostic factors for MS?
Poor prognostic factors for MS?
- Onset before 30
- >1 year duration of remissions
- Optic neuritis at onset
Poor = Pyramidal symptoms aas part fo initial presentaition
Which drugs can exacerbate Myasthenia Gravis?
Antibiotics - Aminoglycisides, Tetracyclines, Ciprofloxacin, Macrolides, Ampicillin, Clindamicin (lincosamide)
Antiarrythmics - Verapamil, Propanalol, Atenolol, timolol
Other - Opiates, Lithium, Phenytoin, Statins, Prednisolone, chloroquine, magnesium
What causes Paroxysmal nocturnal haemoglobinuria?
Whats the best test for it?
What does it predispose to?
- PNH is caused by a lck of Delay accelerating factor (DAF) CD%% and Membrane inhibitor of reactive lysis (MIRL) CD59.
- The lack of these causes red cells to react with complement and platelets.
- Results in intravascular haemolysis, dark morning urine and increased thrombotic events
- The free haemoglobin is mopped up by haptoglobin.
- Best test is to look for CD59 on red cells (flow cytometry). Hams test can also be done but not as sensitive.
Increased risk of aplastic anaemia and leukaemia.
What is Ebstein's anomaly?
What does it predispose to?
- Two leaflets of the tricuspid valve are displaced towards the apex of the Right ventricle.
- This causes 'atrialization' of the right ventricle and an ASD
- It can also result in conduction abnorms such as accessory pathways leading to WPW.
- Active infection
- ActiveLatent TB
- Heart failure iii or iv
What is dubin Johnson syndrome?
Familial conjugated hyperbilirubinaemia - causing increased bilirubin in urine.
What is Gilbert's?
Hyperbilirubinaemia - Unconjugated therefore not in urine. Good prognosis.
Test for it by fasting (bili goes up) or slow IV infusion of nicotinic acid.
What investigations can you do for sarcoid?
Transbronchial biopsy. most likely to confirm disgnosis
CXR = BHL + paratracheal adenopathy (90%)
Serum-ACE - raised in 60%. released by macrophages, can also be increased in tuberculosis, histioplasmosis, lymphoma, liver disease. (60%)
Serum Calcium = raised due to VitD production by macrophages (2-60%)
Pulmonary function tests = restrictive picture, sequential testing is good for prognosticsation.
Can be leucopenic + hypergammagloublinameia
Kveim reaction - intradermal injection of liverspleen sarcoid nodes (50-60%)
How does AIP present?
Abdominal pain - severe and poorly localized (most common, 95% of patients experience)
Urinary symptoms (Dysuria, urinary retention/incontinence or dark urine)
Peripheral neuropathy (patchy numbness and paresthesias)
Proximal motor weakness (usually starting in upper extremities which can progress to include respiratory impairment and death)
Autonomic nervous system involvement (circulating catecholamine levels are increased, may see tachycardia, hypertension, sweating, restlessness and tremor)
Neuropsychiatric symptoms (anxiety, agitation, hallucination, hysteria, delirium, depression)
Electrolyte abnormalities (Hyponatremia may be due to hypothalamic involvement leading to SIADH that may lead to seizures).
How do you investigate AIP?
Urinary tests - Ehrlics test, urinary deltaaminolevulonic acid and urinary porphobiliniogen
UV exposure of urine will turn it purple.
Blood test - erythrocyte porphobilinogen deaminase are DECREASED!!
How do you treat AIP?
Stop drugs which trigger attacks
- High serum glucose inhibits heme synthesis so
- -high carb diet
- -IV dextrose
IV haematin is useful if dextrose doesn't seem to be working.
What can trigger AIP?
- the 4 M's
Explain pacemaker Nomeclature?
- First letter = Chamber being paced (O,A,V,D)
- Second letter = Chamber being sensed (O,A,V,D)
- Third Letter = Response (O,I,T,D)
- Fourth letter = Rate modulation (O,R)
VVIR = Sing Ventricle is being paced, the same single ventricle is being sensed and inhibited to modulate its rate.
Management of In-stent thrombosis?
Abciximab used as adjunct
Poor prognosis if instent thrombosis happens.
Whats the treatment and most likely outcome from an episode of acute sarcoidosis?
Supportive, including NSAIDS for polyarthralgia.
Most resolve spontaneously with no long term sequelae
What does ethylene glycol do to your urine?
cause Oxalate crystalluria.
How do you investigate Zollinger-ellison syndrome
- Fasting gastrin levels on 3 different days
- -Gastrin secretion is pulsatile
Basal acid output estimation
Secretin stimulation test
Imaging and then surgery
Octreotide, interferon and chemo are options if there are mets.
How quickly should GCA symptoms improve on steroids?
How long do you continue steroids for?
Three quaters will need to continue for 1-3 years
Options for acute bleed with signs of shock on warfarin?
- Prothrombin concentrate - fastest acting
- Recombinant FactorVIIA
Side effects of Zidovudine?
Lipodystrophy - peripheral fat loss and increased abdominal obesity.
High LDL, Low HDL
Worse with zidovudine but still caused by newer agents
Whats Subclavian Steal Syndrome all about?
Retrograde flow in the left vertebral artery because of a proximal stenosis of the left subclavian artery.
blood flows up the right vertebral and down the left vertebral and deprives the brainstem of bloodflow causing a TIA mimic.
What does the BNF say about prescribing and continuing Ciclosporin?
Its terrible for your kidneys and your BP.
- Atleast 2 baseline measurments needed before starting.
- Creatinine checked every 2 weeks for first 3 months
- Discontinue after 3 months use to allow kidneys to recover
What is Haemolytic-Uraemic Syndrome?
Characterized by haemolysis, Acute renal failure, Low platelets
Usually precipitated by Ecoli0157 infections
Shiga-toxin binds to Gb3 receptor on glomerular endothelium, this cause various ignalling events which disable ADAMTS13 metalloprotease. This allows vWF to form its multimers and lots of microthrombosis happens.
Pill-in-pocket Chemical cardioversion
CONTRAINDICATED in previous ischaemic HD
Dermatological conditions in pregnancy?
Melasma and Darkening of line alba - Both caused by Melanocyte stimulating hormone
Pyogenic Granuloma - Non-pigmented vascular growths
PUPP - Pruritic Urticated papules and plaques of Pregnancy arise in abdominal striae
Pemphigoid Gestationis - IgG mediated blistering condition
Choriocarcinoma characteristics, treatment and success rate?
High bHCG with normal AFP and CEA. Very small and very rare lump. Usually missed on examination. USS and CT help confirm diagnosis.
Very sensitive to Cisplatin based therapy. 80% success rate.
What is the hallmark of gastric-emptying disorders?
Vomiting temporally removed from eating and vomitus containing recognisable food from hours earlier.
Treatment for chronic myeloid leukemia?
If they have a sibling - consider related stemcell transplantation
Otherwise Imatinib will induce remission in 76% of patients.
Causes of U-waves on ECG?
- Cardiac drugs - digitalis, quinidine, amiodarone
- Psychotropics - TCAs, Phenothiazines
Oramorph to diamorphine conversion?
Daily Dose of oral morphine DIVIDED by 3
Indications for cardiac resynchronization?
Essentially, evidence of Intraventricular conduction delay and a rubbish LV.
- Ejection fraction of <35%
- QRS >120
- Drug refractory symptoms.
Causes of Pericardial effusion?
- Infective (HIV, TB)
- Valvular (IE)
What is periodic alveolar proteinosis?
- Disease that can be primary or secondary.
- Secondary to atypical mycobacterium, PCP, organic dust, immunosupressants and haematological malignancies.
- Presents with SOB + constitutional symptoms
- Investigate with BAL which is acis-schiff +ve
- Increased levels of Surfactant A+D
- Crazy paving dense infiltrates on HRCT
- Treat with lung washing
Characteristics of Post-partum thyroiditis?
- Occurs 2-12 months post partum
- Smooth goitre
- Hyperthyroid followed by hypothyroid and then euthyroid.
- Anti-TPO +ve and ESR -ve
What do you find on colonoscopy in laxative abuse?
Melanosis coli, usually secondary to anthraquinone (senna) laxatives.
What features do MEN2 A and B have in common?
Both cause Medullary Thyroid CA
Both cause Phaeochromocytoma
What features differ between MEN 2A and B?
MEN 2A = Parathyroid hypertrophy and cancer
MEN 2 B = Facial swelling, Enlarged colon, skeletal abnorms, Mucous membrane tumors.
How do you treat Takayasu's Arteritis?
Whats the survival rates with treatment?
Steroids + Methotrexate\Azathioprine
90% survival at 15 years
What levels of prolactin would you expect with a Macroprolactinoma?
What signs and symptoms indicate that you need to actively treat Iron overdose?
How do you actively treat?
Abdo pain, nausea, vomitting - iron corrodes GI tract
Hypotension - iron causes vasodilatation
- Treatment =
- Gastric lavage upto 6hrs,
- IM desferrioxamine,
- IV desferrioxamine,
- PO desferrioxamine to chelate abdominal stuff
Longtermsequelae = gastricfibrosis and pyloric stenosis