Knowledge and management of sport-related concussion in primary care in New Zealand.

Aim: To assess the current state of knowledge around sport-related concussion (SRC) guidelines and management among primary care doctors in New Zealand.

Methods: An online, self-administered, 21-item multi-choice questionnaire targeted at general practitioners and urgent care doctors in New Zealand was used. Main outcome measures were knowledge and management of patients with SRC through to return-to-sport.

Mutations in SLC6A19, encoding B0AT1, cause Hartnup disorder.

Hartnup disorder, an autosomal recessive defect named after an English family described in 1956 (ref. 1), results from impaired transport of neutral amino acids across epithelial cells in renal proximal tubules and intestinal mucosa. Symptoms include transient manifestations of pellagra (rashes), cerebellar ataxia and psychosis.

Triple-A syndrome with prominent ophthalmic features and a novel mutation in the AAAS gene: a case report.

Background: Triple-A syndrome (Allgrove syndrome) is an autosomal recessive disorder characterized by adrenal insufficiency, alacrima, achalasia, and - occasionally - autonomic instability. Mutations have been found in the AAAS gene on 12q13.

Case Presentation: We present the case of a 12 year-old boy with classic systemic features of triple-A syndrome and several prominent ophthalmic features, including: accommodative spasm, dry eye, superficial punctate keratopathy, and pupillary hypersensitivity to dilute pilocarpine.

Renal glucosuria due to SGLT2 mutations.

Isolated renal glucosuria results from mutations in SGLT2, which codes for an active transporter specific for d-glucose and expressed in the luminal membrane of the renal proximal tubule. In affected individuals, glucosuria leads to pursuit of hyperglycemia to exclude defects in glucose metabolism, and to investigation of renal proximal tubular function to exclude renal Fanconi syndrome. Here we present clinical and molecular data regarding a 19-year-old woman with isolated glucosuria.