Part 2 Set A

• 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.

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.

• 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.

• 3 days of IV methylpred + cyclophosphamide then lower dose orals
• or
• IVIG if severely ill
• or
• IV rituximab (anti CD20)

• Rash, urticaria, GI upset
• TTP - fever, anaemia, thrombocytopenia, altered mental status, renal impairment, schistocytes on blood film, occurs in less than 1%

Carbamazepine

90% response rate with microvascular decompression.

Ciclosporin causes sebhorreic hyperplasia especially if skin is exposed to excess sunlight.

• Flu like symptoms - fevers, rigors, headaches, flushing, myalgia, lethargy
• Low BP during infusion
• Vomitiing
• Tumor pain
• Allergic reactions.

22% experience complete relief with medical therapy only.

30mmhg = elevated pressures

Hypothyroid, Alcoholism, diabetes

Topical steroids, injectable steroids, skin grafts, camo creams.

• Onset before 30
• >1 year duration of remissions
• Optic neuritis at onset

Poor = Pyramidal symptoms aas part fo initial presentaition

Antibiotics - Aminoglycisides, Tetracyclines, Ciprofloxacin, Macrolides, Ampicillin, Clindamicin (lincosamide)

Antiarrythmics - Verapamil, Propanalol, Atenolol, timolol

Neuromuscular blockers

Other - Opiates, Lithium, Phenytoin, Statins, Prednisolone, chloroquine, magnesium

• 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.

• 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
• MS
• ActiveLatent TB
• Pregnancy
• Breastfeeding
• Heart failure iii or iv

Familial conjugated hyperbilirubinaemia - causing increased bilirubin in urine.

Hyperbilirubinaemia - Unconjugated therefore not in urine. Good prognosis.

Test for it by fasting (bili goes up) or slow IV infusion of nicotinic acid.

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%)

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).

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!!

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.

• the 4 M's
• Medication
• Menstruation
• Malnutrition
• Maladies

• 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.

PCI

Abciximab used as adjunct

Poor prognosis if instent thrombosis happens.

Supportive, including NSAIDS for polyarthralgia.

Most resolve spontaneously with no long term sequelae

cause Oxalate crystalluria.

• 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.

Within 24-48hrs

Three quaters will need to continue for 1-3 years

• Prothrombin concentrate - fastest acting
• Recombinant FactorVIIA
• FFP

Insulin resistance

Lipodystrophy - peripheral fat loss and increased abdominal obesity. 

High LDL, Low HDL

Worse with zidovudine but still caused by newer agents

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.

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

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

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

High bHCG with normal AFP and CEA. Very small and very rare lump. Usually missed on examination. USS and CT help confirm diagnosis. 

Metastasizes early.

Very sensitive to Cisplatin based therapy. 80% success rate.

Vomiting temporally removed from eating and vomitus containing recognisable food from hours earlier.

If they have a sibling - consider related stemcell transplantation

Otherwise Imatinib will induce remission in 76% of patients.

• Hypokalemia
• Cardiac drugs - digitalis, quinidine, amiodarone
• Psychotropics - TCAs, Phenothiazines

Daily Dose of oral morphine DIVIDED by 3

Essentially, evidence of Intraventricular conduction delay and a rubbish LV.

• Ejection fraction of <35%
• QRS >120
• Drug refractory symptoms.

• Neoplastic
• Infective (HIV, TB)
• Valvular (IE)
• Trauma
• Uraemic
• Myxoedema

• 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

• Occurs 2-12 months post partum
• Smooth goitre
• Hyperthyroid followed by hypothyroid and then euthyroid.
• Anti-TPO +ve and ESR -ve

Melanosis coli, usually secondary to anthraquinone (senna) laxatives.

Both cause Medullary Thyroid CA

Both cause Phaeochromocytoma

MEN 2A = Parathyroid hypertrophy and cancer

MEN 2 B = Facial swelling, Enlarged colon, skeletal abnorms, Mucous membrane tumors.

Steroids + Methotrexate\Azathioprine

90% survival at 15 years

>5000

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
• Haemodialysis

Longtermsequelae = gastricfibrosis and pyloric stenosis