Year 2 Flashcards
Name the genetic condition associated with the following tumours:
Thyroid: medullary thyroid cancer
Adrenal: pheochromocytoma
Parathyroid: hyperplasia/adenomas
MEN2a
Describe the pathophysiology of pemphigus vulgaris
Type II hypersensitivity - IgG4 antibodies against desmosomal proteins leads to loss of keratinocyte adhesion in the skin and mucous membranes, leading to superficial blisters, erosions, and mucosal ulcers
In _____________ hyperparathyroidism, caused by a autonomous parathyroid following years of renal failure, PTH will be high and calcium will be high
Tertiary
What hearing test results (using a tuning fork) would indicate sensorineural hearing loss?
Air conduction > bone conduction (Rinne’s)
Head in good ear (Webers)
Name the genetic condition associated with the following tumours:
Thyroid: medullary thyroid cancer
Adrenal: pheochromocytoma
Parathyroid: hyperplasia/adenomas
Mucosal neuromas
MEN2b
Vertical double vision with hypertropia/hypotropia on cover test suggests a problem with which of the ocular muscles?
SO, SR, IR, IO
What is nephrotic syndrome?
Indicative of a non-proliferative process affecting podocytes
Clinical features:
- Heavy proteinuria (> 3 g/day)
- Hypoalbuminaemia
- Non-dependent oedema, classically periorbital
Name the enzyme deficient in acute intermittent porphyria, and the porphyrin which will accumulate as a result
Porphobilinogen deaminase, porphobilinogen
Which condition is associated with anti-centromere antibody?
Limited systemic sclerosis
Which cranial nerve supplies all the extraocular muscles except the superior oblique and lateral rectus?
CN III - oculomotor
Where is the lesion? Name the defect
Lesion of optic nerve → ipsilateral monocular visual loss
A patient with CN _____ palsy typically presents with horizontal diplopia which is worsened when they attempt to look towards the affected side; unopposed adduction of the eye results in a convergent squint or esotropia (eye turns inwards)
CN VI
Describe the mechanism of action of SGLT2 inhibitors
Lower renal threshold for glucose so increase urinary glucose excretion
Describe the clinical presentation of a meniscal tear
Pain and tenderness localised to joint line (medial or lateral)
Usually twisting sports injury in younger patients
What is Anderson-Fabry’s disease?
X-linked lysosomal storage disease - inborn error of glycosphingolipid metabolism (deficiency of ⍺-galactosidase A)
Describe the clinical presentation of Alport’s syndrome
Suspect in patients with microscopic haematuria +/- hearing loss in the early years
Proteinuria seen later but confers bad prognosis
Injury to which nerve results in wrist drop?
Radial nerve
What hearing test results (using a tuning fork) would indicate conductive hearing loss?
Bone conduction > air conduction (Rinne’s)
Head in bad ear (Webers)
Which nerves can be damaged by a supracondylar fracture of the humerus?
Median, ulnar
What is the most common cause of nephrotic syndrome in adults?
Focal segmental glomerulosclerosis
How would you manage an intracapsular hip fracture in a previously low-functioning patient?
Hemi-arthroplasty
Describe the usual mechanism of injury of a PCL injury
Tend to occur following a direct blow to anterior tibia (e.g. dashboard, motorbike)
How would you manage a displaced intracapsular fracture in a previously high-functioning patient?
Total hip replacement
Cover test: uncovered eye moves up
Hypertropia
Cover test: uncovered eye moves inward
Exotropia
Describe the biopsy findings in focal segmental glomerulosclerosis
Light microscopy - small areas of mesangial collapse and sclerosis
Electon microscopy:
- Primary FSGS → diffuse podocyte process fusion
- Secondary → podocyte process fusion limited to sclerotic areas
Minimal Ig/complement deposition on IF
A patient with a CN ____ palsy typically presents with a ‘down and out’ appearance of the affected eye
CN III
Damage to which nerve will cause the following clinical signs:
Radial nerve
Describe the clinical presentation of Meniere’s disease
Attacks are comprised of a triad of severe paroxysmal vertigo, with sensorineural hearing loss and tinnitus on the affected side
Vertigo is recurrent, spontaneous, rotational vertigo with at least 2 episodes >20 mins (often lasting hours)
Which nerve supplies the first webspace of the foot?
Deep peroneal nerve
Describe the usual mechanism of injury of an LCL injury
Usually occur with varus stress and hyperextension, often occurs in combination with PCL or ACL injury
What is the second most common cause of nephrotic syndrome in adults?
Membranous nephropathy
Injury to which nerve will result in a winged scapula?
Long thoracic nerve
Injury to which nerve results in a positive Trendelenburg sign?
Superior gluteal nerve
Describe the pathophysiology of bullous pemphigoid
Type II hypersensitivity – anti-hemidesmosome antibodies (IgG) react with an antigen of the hemidesmosomes anchoring basal cells to the basement membrane
Describe the mechanism of action of TZDs
Reduce insulin resistance by interaction with PPAR-y
Describe the usual mechanism of injury of an ACL injury
Usually twisting sports injury
A patient with CN ____ palsy typically presents with a vertical diplopia when looking inferiorly, and the affected eye turned upward when in primary position?
CN IV
Which nerve is affected in carpal tunnel syndrome?
Median nerve
Damage to which nerve will cause the following clinical signs:
Median nerve
Describe the mechanism of sulphonylureas
Close ATP-sensitive K+ channels which stimulate insulin release
Describe the findings in a right-sided CN IV palsy
Right eye turns upwards
Where is the lesion? Name the defect
Lesion at parietal upper radiation → contralateral homonymous inferior quadrantanopia
Describe the classical clinical presentation of porphyria cutanea tarda
Middle-aged man, associated with liver disease
Describe the clinical presentation of an ACL injury
Audible pop followed by deep knee pain and swelling (haemarthrosis) within an hour of the injury
Pain settles but leaves rotatory instability (gives way on turning on a planted foot due to excessive internal rotation of the tibia)
Excessive anterior translation of the tibia on the anterior drawer test and Lachman test
Which condition is associated with anti-cardiolipin antibody and lupus anti-coagulant?
Anti-phospholipid syndrome
What type of hearing loss is demonstrated by the audiogram?
Sensorineural hearing loss
Which condition is associated with anti-Scl-70 antibody?
Diffuse systemic sclerosis
What is a vestibular migraine?
Episode of vertigo in someone who has a history of migraines - about 25% of migraine sufferers have spontaneous attacks of vertigo and ataxia
Which nerve is affected in cubital tunnel syndrome?
Ulnar nerve
Injury to which nerve results in foot drop?
Common peroneal nerve
What is the Dix-Hallpike manoeuvre?
Diagnostic examination for benign positional paroxysmal vertigo - positive test will invoke the symptoms and geotropic, tortional nystagmus will be present