Past test Flashcards
What is considered portal hypertension?
then the pressure in the portal vein is > 12mmHg
What is the wedged hepatic venous pressure?
The wedged hepatic venous pressure is the pressure recorded by a catheter wedged in a hepatic vein - it most accurately reflect the portal venous pressure in the hepatic sinusoids.
Wedged hepatic venous pressure is elevated in sinusoidal and post sinusoidal portal hypertension but remains normal in pre-sinusoidal portal hypertension
What test can be used to elucidate a mechanical reason for elevated hemidiaphragm?
The diagnosis of unilateral paralysis, suggested bu asymmetric elevation of the affected hemidiaphragm on XR can be confimred by fluoroscopy
What is pituitary apoplexy?
Pituitary apoplexy is a rare yet potentially life-threatening clinical syndrome characterized by acute haemorrhagic infarction of the pituitary gland, typically within a pre-existing pituitary adenoma.
How does pituitary apoplexy present?
an abrupt onset of severe headache, visual disturbances, ophthalmoplegia due to cranial nerve palsies (particularly CN III, IV, and VI), altered mental status, and potential endocrine dysfunction such as adrenal insufficiency or hypopituitarism
How is pituitary apoplext diagnosed?
MRI
Laboratory evaluation should include assessment of anterior pituitary hormonal function (e.g., serum cortisol, thyroid-stimulating hormone, free thyroxine, prolactin, insulin-like growth factor-1) as well as electrolytes to evaluate for diabetes insipidus.
ECG changes in pericarditis?
ST elevation with concavity upward in all leads facing the epicardial surface i.e anterior, inferior and lateral
Only cavity leads - aVR, V1 and rarely V2 show ST depression
This is followed by the return of ST segments to baseline and flat or inverted T waves
PR depression - the most specific marker for pericarditis
What is Pseudoxanthoma elasticum?
Pseudoxanthoma elasticum is an inherited condition (usually autosomal recessive*) characterised by an abnormality in elastic fibres
Features
retinal angioid streaks
‘plucked chicken skin’ appearance - small yellow papules on the neck, antecubital fossa and axillae
cardiac: mitral valve prolapse, increased risk of ischaemic heart disease
gastrointestinal haemorrhage
What is inclusion body myositis?
It typicall presents with slowly progressive weakness and wasting of the finger flexors and quadriceps.
Slow disease progression
Leads to diffiuclty in walking, frequent falls
Dysphagia is a common manifestation
CK is normal or up to 5x the normal range
There is no available treatment
What does EMG show in inclusion body myositis?
inflammatory myopathic changes, increased insertional and spontaneous activity as well and small amplitude, short duration polyphasic unit
MEN type 1?
3ps
Parathyroid - hyperparathyroid due to parathyroid hyperplasia
Pituitary
ancreas - insulinoma and gastrinoma
Also adrenal and thyroid
MEN 1 gene
How does MEN present?
Most commonly presents with hypercalcaemia
MEN typa IIa?
Medullary thyroid cancer (70%)
Parathyroid (60%)
Phaechromocytoma
RET oncocogene
MEN type IIb?
Medullary thyroid cancer
Phaeochromocytoma
Marfanoid habitus
Neuromas
RET oncogene
What type of MEN is Hirshprung’s disease associated with?
MEN 2
What is mucosal neuroma?
This is a dermatological unique to MEN2B
Mucosal neuromas are the most consistent and distinctive feature
Yellow white sessile painless nodules on the lips or tongue
How does metoclopramide cause galactorrhoea?
Metoclopramide is a dopamine antagonist that binds to D2- receptors on pituitary lactotropes. This stimulates the release of prolactin by anterior pituitary resulting in galacotthoea.
Prolactin inhibits GNRH and gonadotopin secretion and so oligomenorrhoea or amenorrhoea can occur.
Microscopic polyangitis
Microscopic polyangiitis is a small-vessel ANCA vasculitis.
Features
renal impairment: raised creatinine, haematuria, proteinuria
fever
other systemic symptoms: lethargy, myalgia, weight loss
rash: palpable purpura
cough, dyspnoea, haemoptysis
mononeuritis multiplex
Investigations
pANCA (against MPO) - positive in 50-75%
cANCA (against PR3) - positive in 40%
What is the genetic link between MND and frontotemporal dementia?
It is a hexanucleotide repeat expansion of the GGGGCC repeat in the C9orf72 gee
How many trinucleotide repeat are there in Huntingtons?
Cases have been reported with repeats ranging from 37 to 120
Polymyositis
symmetrical proximal muscle weakness
T cell mediated - against muscle fibres
Features
- proximal muscle weaakness, raynaud’s, ILD, dysphagia, dysphonia
Ix - elevated CK, EMG, muscle biopsy, anti-Jo-1 (seen in pattern of disease associated with lung involvement, Raynaud’s and fever)
Best diagnostic test - muscle biopsy
tx - high dose steroids
azathioprine
dermatomyositis is a variant of the disease where skin manifestations are prominent, for example a purple (heliotrope) rash on the cheeks and eyelids
what is membranoproliferative glomerulonephritis?
also known as mesangiocapillary glomerulonephritis
What is types 1 membranoproliferative glomerulonephritis?
accounts for 90% of cases
cause: cryoglobulinaemia, hepatitis C
renal biopsy
electron microscopy: subendothelial and mesangium immune deposits of electron-dense material resulting in a ‘tram-track’ appearance
What is types 2 membranoproliferative glomerulonephritis?
Type 2 - ‘dense deposit disease’
causes: partial lipodystrophy (patients classically have a loss of subcutaneous tissue from their face), factor H deficiency
caused by persistent activation of the alternative complement pathway
low circulating levels of C3
C3b nephritic factor is found in 70%
an antibody to alternative-pathway C3 convertase (C3bBb)
stabilizes C3 convertase
renal biopsy
electron microscopy: intramembranous immune complex deposits with ‘dense deposits’
Mechanism of action of trimethoprim?
interferes with DNA synthesis by inhibiting dihydrofolate reductase
may, therefore, interact with methotrexate, which also inhibits dihydrofolate reductase
Methotrexate interactions?
Interactions
avoid prescribing trimethoprim or co-trimoxazole concurrently - increases risk of marrow aplasia
high-dose aspirin increases the risk of methotrexate toxicity secondary to reduced excretion
Methotrexate toxicity
the treatment of choice is folinic acid
What is Truvada?
A conmbination medicadtion containing emtricitabine and tenofavir
recommended as first line therapy in the UK
It can lead to renal tubular damage
What is medullary sponge kidney?
Condition characterised by dilation of the collecting ducts in the papillae with accompanying cystic changes.
cyst formation is commonly associated with the development of small calculi in the papillary zones with surounding increased density - this is because the dilated collecting ducts are filled with contrast medium,
What are the symptoms of bronchial carcinoid?
Recurrent haemoptysis with segmental collapse is a typical presentation of bronchial carcinoid.
Recurrent pneumonia
Can rarely cause carcinoid syndrome
Invesitgations for carcinoid tumours?
urinary 5-HIAA
plasma chromogranin A y
Management of carcinoid syndrome?
somatostatin analogues e.g. octreotide
diarrhoea: cyproheptadine may help
mechanism of action of methotrexate?
an antimetabolite that inhibits dihydrofolate reductase, which interferes with tetrahydrofolate stores required for synthesis of purines and thymidylate in inflammatory cells.
What is McCune-Albright syndrome?
McCune-Albright syndrome is not inherited, it is due to a random, somatic mutation in the GNAS gene.
Features
precocious puberty
cafe-au-lait spots
polyostotic fibrous dysplasia
short stature
Ehlers-Danlos syndrome?
Ehler-Danlos syndrome is an autosomal dominant connective tissue disorder that mostly affects type III collagen. This results in the tissue being more elastic than normal leading to joint hypermobility and increased elasticity of the skin.
Features and complications
elastic, fragile skin
joint hypermobility: recurrent joint dislocation
easy bruising
aortic regurgitation, mitral valve prolapse and aortic dissection
subarachnoid haemorrhage
angioid retinal streaks
When should pleural effusions be drained?
When the fluid is infected
when the pH <7.2
when the gram stains shows the presence of organisms
when the fluid is frankly purulent
when clinical improvement is slow despite abx therapy
What is seen on menopausal blood tests?
Persistently high FSH and low oestrogen
what is fragile X syndrome?
Fragile X syndrome is a trinucleotide repeat disorder.
Features in males
learning difficulties
large low set ears, long thin face, high arched palate
macroorchidism
hypotonia
autism is more common
mitral valve prolapse
Features in females (who have one fragile chromosome and one normal X chromosome) range from normal to mild
Diagnosis
can be made antenatally by chorionic villus sampling or amniocentesis
analysis of the number of CGG repeats using restriction endonuclease digestion and Southern blot analysis
what conditions are associoated wiht premature ovarian insufficiency?
Addisons disease
autoimmune thyroid disease
All woman should be tested for the FMR1 premutation (fragile X) regardless of family history
what is St John’s wort taken for?
shown to be as effective as tricyclic antidepressants in the treatment of mild-moderate depression
mechanism: thought to be similar to SSRIs (although noradrenaline uptake inhibition has also been demonstrated)
**Inducer of the P450 system
Tetrad of symptoms in narcolepsy?
hypersomnia
cataplexy
hypnagogic/hypnopompic hallucinations
sleep paralysis
when should multiple doses of activated charcoal be given?
to aid elimination of some drugs that are prone to enterohepatic circulation - charcoal adsorbs drug excreted in bile and prevents reabsorption in the small bowel. typical examples include aspirin, quinine, carbamezapin, phenobarbital and theophylline
Ratnauds and digital ulcers and calcinosis?
Systemic sclerosis
(ulcers very unusual in primary raynaud’s phenomenon)
Antibodies seen in systemic sclerosis?
Limited scleroderma with systemic involvement -anti-centromere antibody
Diffuse scleroderma - scleroderma involving the trunk and proximal limbs as well as face and distal limbs (anti-Scl70 aka anti-topoisomerase-1
Investigations of avascular necrosis of the hip?
MRI is the investigation of choice
which anti-eplieptic causes haeorrhagic disease of the newborn
Phenytoin induces vitamin K metabolism, which can cause a relative vitamin K deficiency, creating the potential for heamorrhagic disease of the newborn
What are the types of autoimmune hepatitis?
associated with HLA B8, DR3
differential for primary hyperparathyroidism?
It is important to consider the rare but relatively benign condition of benign familial hypocalciuric hypercalcaemia, caused by an autosomal dominant genetic disorder. Diagnosis is usually made by genetic testing and concordant biochemistry (urine calcium : creatinine clearance ratio <0.01-distinguished from primary hyperparathyroidism).
