Miscellaneous 3 Flashcards
Leukocyte ALP
What causes it to be raised?
Raised in
myelofibrosis
leukaemoid reactions
polycythaemia rubra vera
infections
steroids, Cushing’s syndrome
pregnancy, oral contraceptive pill
Leukocyte ALP
What causes it to be low?
Low in
chronic myeloid leukaemia
pernicious anaemia
paroxysmal nocturnal haemoglobinuria
infectious mononucleosis
ENA
Specific nuclear antigens + ANA posi
Anti-Ro
Anti-La
Anti-Jo1
Anti-centromere
Anti-Scl-70
anti-Ro: Sjogren’s syndrome, SLE, congenital heart block
anti-La: Sjogren’s syndrome
anti-Jo 1: polymyositis
anti-scl-70: diffuse cutaneous systemic sclerosis
anti-centromere: limited cutaneous systemic sclerosis
Genetics
Noonan syndrome
Describe genetic defect and inheritance
Autosomal dominant
Normal karyotype
Ch 12 gene defect
Noonan syndrome
Similar to…?
Features
As well as features similar to Turner’s syndrome (webbed neck, widely-spaced nipples, short stature, pectus carinatum and excavatum), a number of characteristic clinical signs may also be seen:
cardiac: pulmonary valve stenosis
ptosis
triangular-shaped face
low-set ears
coagulation problems: factor XI deficiency
Complications of panretinal laser photocoagulation
- 50% develop noticeable reduction in visual fields due to scarring of peripheral retinal tissue
- Decrease in night vision
- Generalised decrease in visual acuity and macular oedema
Sarcoidosis related syndromes
Lofgrens syndrome
Haerfordt syndrome
Lofgren’s syndrome - bilateral hilar lymphadenopathy + fever + erythema nodusum + polyarthralgia
Haerfordt syndrome - Bilateral hilar lymphadenopathy + fever + parotid enlargement + anterior uveitis
Sarcoidosis - when to give steroids?
- patients with chest x-ray stage 2 or 3 (ie parenchymal changes) disease who are symptomatic.
- Patients with asymptomatic and stable stage 2 or 3 disease who have only mildly abnormal lung function do not require treatment
** hypercalcaemia - eye, heart or neuro involvement
Renal calculi
Risk factors (general)
dehydration
hypercalciuria, hyperparathyroidism, hypercalcaemia
cystinuria
high dietary oxalate
renal tubular acidosis
medullary sponge kidney, polycystic kidney disease
beryllium or cadmium exposure
Renal calculi
Risk factors for urate stones
Drugs that promote calcium stones
Risk factors for urate stones
* gout
* ileostomy: loss of bicarbonate and fluid results in acidic urine, causing the precipitation of uric acid
Drug causes
* drugs that promote calcium stones: loop diuretics, steroids, acetazolamide, theophylline
* thiazides can prevent calcium stones (increase distal tubular calcium resorption)
Renal calculi
Categories based on composition
- Calcium oxalate most common
- Cystine
- Uric acid
- Calcium phosphate
- Struvite
Renal stones
Calcium oxalate
* Radiological appearance
- Hypercalciuria is a major risk factor
- Stones are radio-opaque
Renal stones
Cystine
Cause
Radio
Only 1% of stones
Inherited recessive disorder of transmembrane cystine transport leading to decreased absorption of cystine from intestine and renal tubule
Multiple stones may form
Relatively radiodense because they contain sulphur
Renal stones
Uric acid stones
Caused by…
Precipitated by…
Radio
Uric acid is a product of purine metabolism
May precipitate when urinary pH low
May be caused by diseases with extensive tissue breakdown e.g. malignancy
More common in children with inborn errors of metabolism
Radiolucent
Which stones are caused by RTA?
Calcium phosphate stones may occur in RTA
High urinary pH increases supersaturation of urine with calcium and phosphate
Renal tubular acidosis types 1 and 3 increase risk of stone formation (types 2 and 4 do not)
Radio-opaque stones (composition similar to bone)
What are staghorn calculi and what are they usually made up of?
stag-horn calculi involve the renal pelvis and extend into at least 2 calyces. They develop in alkaline urine and are composed of struvite (ammonium magnesium phosphate, triple phosphate). Ureaplasma urealyticum and Proteus infections predispose to their formation
Renal calculi
Initial management of renal colic
Which stones can be managed conservatively?
NSAID - IM diclofenac but note may increase risk of cardiovasc events
Stones usually <5mm will pass spontaneously within 4 weeks.
Renal calculi
- Ureteric obstruction neccessitates removal
- Renal anatomical anomalies may mean more invasive mx.
- Infection + obstruction = definitely need deccompression by nephrostomy
Management of stone removal and treatment
Renal stone
Advice on prevention for calcium stones
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 - how to prevent
cholestyramine reduces urinary oxalate secretion
pyridoxine reduces urinary oxalate secretion
How to prevent uric acid stones
allopurinol
urinary alkalinization e.g. oral bicarbonate
Malignant Melanoma
Superficial spreading vs nodular
Superficial spreading
Most common - makes up 70% of cases
Affects arms legs back chest young people
a Growing mole
Nodular
Second commonest
Sun exposed skin in middle aged people
Red or black lump which bleeds/oozes
Lentigo Maligna
- Precursor to lentigo maligna melanoma
- Suspicious flat freckle growing slowly
- Chronically sun exposed skin
Which type of malignant melanoma can cause Hutchinsons sign - subungual pigmentation on palms or feet or subungal
Acral lentiginous
Liver transplantation criteria
Arterial pH < 7.3, 24 hours after ingestion
or all of the following:
prothrombin time > 100 seconds
creatinine > 300 µmol/l
grade III or IV encephalopathy
How to calculate relative risk?
Relative risk is the ratio of risk in experimental group to control group risk
EER/CER
Key indications of NIV
**COPD with respiratory acidosis pH 7.25-7.35
**the BTS guidelines state that NIV can be used in patients who are more acidotic (i.e. pH < 7.25) but that a greater degree of monitoring is required (e.g. HDU) and a lower threshold for intubation and ventilation should be used
* type II respiratory failure secondary to chest wall deformity, neuromuscular disease or obstructive sleep apnoea
* cardiogenic pulmonary oedema unresponsive to CPAP
* weaning from tracheal intubation
Thromboyic thromboytopenic purpura
Aetiology and pathophysiology
- Large and sticky multimers of VWF
- Platelets clump within vessels
- ADAMTS13 deficiency - adamts13 breaks down these large multimers of VWF
- May overlap with HUS
Describe features of TTP
- Adult females
- ITP is more common
- Fever
- Micro-emboli cause fluctuating neurological signs
- Thrombocytopenia (duh!)
- Microangiopathic haemolytic anaemia
- Renal failure
TTP triggers precipitants
Causes
* post-infection e.g. urinary, gastrointestinal
* pregnancy
* drugs: ciclosporin, oral contraceptive pill, penicillin, clopidogrel, aciclovir
* tumours
* SLE
* HIV
ITP in adults
- Autoantibodies against platelet membrane glycoproteins GPIIb/IIIa
- Bone marrow produces megakaryocytes which are platelet precurosirs
- Purpura occurs due to increased permeability in capillaries
Isolated low plt with no anaemia
Secondary causes of ITP
Rheumatological diseases
CLL
Lymphoma
Viral infections
Various pharmacological agents
Cardiac action potentials
Describe the movement of Na, K or Ca at each stage of the cardiac AP
* Rapid depolarisation
* Early depolarisation
* Plateau
* Final repolarisation
* Restoration of ionic concentrations
Rapid depolarisation
* Rapid sodium influx
Early depolarisation
* Efflux of potassium
Plateau
* Slow influx of calcium
Final repolarisation
* Efflux of potassium
Restoration of ionic concentrations
* Na/K/ATPase - slow entry of Na into cell decreasing potential difference until threshold potential reached.
Riboflavin deficiency
Angular cheilitis
A cofactor of flavin adenine dinucleotide
Alcohol withdrawal timeline
Alcohol withdrawal
* symptoms: 6-12 hours
* seizures: 36 hours
* delirium tremens: 72 hours
Inheritance pattern achondroplasia
Autosomal dominant
Which one of the following antibodies are associated with painful sensory neuropathy in patients with small cell lung cancer?
Anti Hu
* including painful sensory neuropathy, which often precedes the diagnosis of small cell lung cancer. These antibodies target neuronal cells leading to various neurological manifestations including peripheral neuropathy. The presence of these antibodies in a patient presenting with unexplained neurological symptoms should prompt a search for an underlying malignancy, particularly small cell lung cancer.
Pendred’s syndrome
inheritance pattern, main fearures, aetiology
- autosomal recessive
- bilateral sensorineural deafness, mild hypothyroidism, goitre presenting with delay in academic prog. Worsens with head trauma
- Defect in iodine organification > hypothyroid
- MRI will show one and a half turns in cochlea
Treatment of tetanus
IVIg
IV metronidazole
Treatment of haemolytic uraemic syndrome
There is no role for antibiotics, steroids or immunosuppressants in haemolytic uraemic syndrome (HUS).
Plasma exchange may be indicated, particularly in severe cases of HUS not associated with diarrhoea
Describe presentation of still’s disease in adults
Epidemiology, features, immunology
Epidemiology
has a bimodal age distribution - 15-25 yrs and 35-46 yrs
Features
arthralgia
elevated serum ferritin
rash: salmon-pink, maculopapular
pyrexia
typically rises in the late afternoon/early evening in a daily pattern and accompanies a worsening of joint symptoms and rash
lymphadenopathy
rheumatoid factor (RF) and anti-nuclear antibody (ANA) negative
Management of parkinsons disease (Rx)
- Motor symptoms affecting quality of life - levodopa
- Not affecting quality of life - DA, levodopa, MAO-B inhibitor
Name the genetic disorder:
Young man with cerebellar signs, mixed LMN UMN signs, pes cavus, optic atrophy, normal IQ.
Friedrichs Ataxis
Management of organophosphate poisoning
IV atropine!
Paraneoplastic syndromes affecting nervous system
Lambert Eaton Myasthenic syndrome
Anti-Hu
Anti-Yo
Lambert-Eaton myasthenic syndrome
associated with small cell lung cancer (also breast and ovarian)
antibody directed against pre-synaptic voltage gated calcium channel in the peripheral nervous system
can also occur independently as autoimmune disorder
Anti-Hu
associated with small cell lung carcinoma and neuroblastomas
sensory neuropathy - may be painful
cerebellar syndrome
encephalomyelitis
Anti-Yo
associated with ovarian and breast cancer
cerebellar syndrome
Paraneoplastic syndromes affecting nervous system
Anti-GAD
Anti-Ri
Anti-GAD antibody
associated with breast, colorectal and small cell lung carcinoma
stiff person’s syndrome or diffuse hypertonia
Anti-Ri
associated with breast and small cell lung carcinoma
ocular opsoclonus-myoclonus
Paraneoplastic syndromes affecting nervous system
Purkinje cell antibody
Purkinje cell antibody
- peripheral neuropathy in breast cancer
