Sleep and physical activity patterns in adults and children with Bardet-Biedl syndrome.

Background: Overweight and obesity are common features of the rare disease Bardet-Biedl syndrome (BBS). Sleep and physical activity are behaviors that might impact overweight and obesity and thus may play a key role in the health and well-being of people with BBS. Objectively-measured sleep and physical activity patterns in people with BBS are not well known.

Not all epileptic encephalopathies are Dravet syndrome: Early profound Thr226Met phenotype.

Objective: To define a distinct developmental and epileptic encephalopathy with early onset, profound impairment, and movement disorder.

Methods: A case series of 9 children were identified with a profound developmental and epileptic encephalopathy and mutation.

Results: We identified 9 children 3 to 12 years of age; 7 were male.

Guillain-Barré syndrome in an immunocompromised patient and coccidioidomycosis infection.

A 70-year-old man was referred for evaluation of a 2-week history of numbness and progressive weakness in his lower and upper extremities and subsequently diagnosed with Guillain-Barré syndrome. The patient had been taking mycophenolate mofetil 500 mg twice daily and tacrolimus 6 mg daily for immunosuppression following a kidney transplant 2 years earlier. However, 5 weeks prior to presentation he had been diagnosed with pneumonia due to coccidioidomycosis and his tacrolimus dose was reduced to 1 mg daily to prevent a drug interaction with fluconazole, which was prescribed to treat the coccidioidomycosis infection.

Impact of FUTON and NAA bias on visibility of research.

Objective: To determine whether availability of journals on MEDLINE as FUTON (full text on the Net) affects their impact factor.

Material And Methods: A comprehensive search identified 324 cardiology, nephrology, and rheumatology/immunology journals on-line until May 2003. The status of these journals was ascertained in MEDLINE as having FUTON, abstracts only, and NAA (no abstract available).