Rare SH2B3 coding variants in lupus patients impair B cell tolerance and predispose to autoimmunity.

Systemic lupus erythematosus (SLE) is a heterogeneous autoimmune disease with a clear genetic component. While most SLE patients carry rare gene variants in lupus risk genes, little is known about their contribution to disease pathogenesis. Amongst them, SH2B3-a negative regulator of cytokine and growth factor receptor signaling-harbors rare coding variants in over 5% of SLE patients.

Atopic dermatitis in adults: An Australian management consensus.

Background/objectives: Atopic dermatitis (AD) has significant negative impact on health-related quality of life, mood, sleep, work productivity and everyday activities. Research into the use of new drugs in the management of AD continues to develop, and international updates and recommendations have been published. However, questions remain in the Australian setting.

Muckle-Wells cryopyrinopathy: complex phenotyping and response to therapy in a new multiplex kindred.

Muckle-Wells syndrome (MWS) is a member of the cryopyrin-associated periodic syndrome family of auto-inflammatory diseases, originally described as a triad of urticaria, sensorineural deafness and amyloidosis. IL-1 blockade is a proven therapy for MWS. The clinical, laboratory and genotypic characteristics of a novel kindred of five individuals with Muckle-Wells syndrome are described.

Pentoxifylline-induced drug rash with eosinophilia and systemic symptoms (DRESS) in a patient with caffeine intolerance.

Background: Drug rash with eosinophilia and systemic symptoms (DRESS) is a severe drug reaction characterised by rash, eosinophilia and systemic involvement.

Main Observations: We report a case of DRESS induced by pentoxifylline used for the treatment of severe alcoholic hepatitis, in a patient with longstanding caffeine intolerance. A history of intolerance to caffeine and other methylxanthines is listed as a contraindication to the use of pentoxifylline, yet this precaution is not mentioned in alcoholic hepatitis treatment guidelines.

Age and gender variations in the management of ischaemic stroke in China.

Background: Stroke is a major health issue in China.

Aims: We aimed to describe the management of patients admitted to hospitals in China with acute ischaemic stroke, and to determine whether there were any differences by age and gender.

Methods: Using a multicentre prospective hospital register across all eight major economic (geographic) regions in China, data on the socioeconomic characteristics, medical history, clinical features, and in-hospital investigations, management, and outcomes were collected on consecutive patients with acute stroke due to cerebral ischaemia during a 5-month period in 2006.

Hereditary sensory and autonomic neuropathy type I in a Chinese family: British C133W mutation exists in the Chinese.

Hereditary sensory and autonomic neuropathy type I (HSAN I) is an autosomal dominant disorder of the peripheral nervous system characterized by marked progressive sensory loss, with variable autonomic and motor involvement. The HSAN I locus maps to chromosome 9q22.1-22.