Weber-Cockayne syndrome
Weber-Cockayne syndrome: a mild, localised form of epidermolysis bullosa simplex, causing recurrent blistering of the palms and soles due to KRT5 or KRT14 mutations.
Category Medical Specialty
Peutz-Jeghers syndrome
Peutz-Jeghers-syndrome: A Syndrome gastrointestinal polyposis characterized by specific melanin pigmentations of the skin and mucous membranes
Johannes Peutz
Johannes Peutz (1886–1957), Dutch internist, first described Peutz-Jeghers syndrome in 1921; pioneer of clinical diagnostics in The Hague.
Harold Jeghers
Harold Jeghers (1904–1990), US internist, co-described Peutz-Jeghers syndrome in 1949; pioneer educator and founder of the Jeghers Medical Index
William Rivers
William Halse Rivers Rivers (1864–1922): neurologist, anthropologist, WWI shell shock pioneer, dermatomes co-mapper, protopathic/epicritic sensation theorist
Hans Chiari
Hans Chiari (1851-1916) was an Austrian pathologist. Eponymously affiliated with the Chiari malformation; Type II Chiari malformation (Arnold–Chiari malformation) and Budd–Chiari syndrome
Procedure: Radial Arterial Line
Emergency procedure, instructions and discussion: Radial Arterial Line, with a guide made in partnership with a recent publication in Emergency medicine Australasia
Charles Ballance
Sir Charles Ballance (1856–1936), pioneer of neurosurgery and otology, first performed facial nerve crossover anastomosis in 1895—an enduring milestone.
Procedure: Radial Arterial Line
Emergency Procedure: Radial Arterial Line, with a guide made in partnership with a recent publication in Emergency medicine Australasia
Malignant Hyperthermia
Malignant Hyperthermia = pharmacogenetic disease of skeletal muscle induced by exposure to certain anaesthetic agents; incidence 1:5,000 -> 1:65,000 anaesthetics (suspected); mutation in the gene coding for the ryanodine receptor
Carl Wernicke
Carl Wernicke (1848–1905), German neurologist who described Wernicke’s area and aphasia, and identified Wernicke’s encephalopathy from thiamine deficiency
CT Case 096
30-year-old male presents following a work place injury. A 20cm metal rod has fallen on his face, resulting in a penetrating orbital injury.