Diffuse abnormal layering of small intestinal smooth muscle is present in patients with FLNA mutations and x-linked intestinal pseudo-obstruction.

X-linked intestinal pseudo-obstruction, a rare disorder caused by mutations in FLNA, the gene encoding the cytoskeletal protein filamin A, has been regarded as a hereditary enteric neuropathy largely on the basis of sparse and incomplete pathologic studies. Diffuse abnormal layering of small intestinal smooth muscle (DAL) is a rare malformation, which has only been described in 4 patients (all male, 3 in the same family) with intestinal pseudo-obstruction. We report DAL in 5 male patients (2 families) with intestinal pseudo-obstruction and mutations in FLNA.

Risk managers, physicians, and disclosure of harmful medical errors.

Background: Physicians are encouraged to disclose medical errors to patients, which often requires close collaboration between physicians and risk managers.

Methods: An anonymous national survey of 2,988 healthcare facility-based risk managers was conducted between November 2004 and March 2005, and results were compared with those of a previous survey (conducted between July 2003 and March 2004) of 1,311 medical physicians in Washington and Missouri. Both surveys included an error-disclosure scenario for an obvious and a less obvious error with scripted response options.

Medical error disclosure among pediatricians: choosing carefully what we might say to parents.

Objective: To determine whether and how pediatricians would disclose serious medical errors to parents.

Design: Cross-sectional survey.

Setting: St Louis, Missouri, and Seattle, Washington.

Sialidosis presenting as severe nonimmune fetal hydrops is associated with two novel mutations in lysosomal alpha-neuraminidase.

Sialidosis is a lysosomal storage disease characterized by accumulation of sialylated oligosaccharides in tissues, blood and urine and is caused by mutations in the gene for lysosomal alpha-neuraminidase (NEU1). There is wide variability in the age of onset and severity of symptoms in sialidosis. We report here a case of sialidosis due to novel mutations in NEU1 presenting as severe nonimmune hydrops fetalis.

Maternal dietary supplementation with pomegranate juice is neuroprotective in an animal model of neonatal hypoxic-ischemic brain injury.

Neonatal hypoxic-ischemic brain injury remains a significant cause of morbidity and mortality and lacks effective therapies for prevention and treatment. Recently, interest in the biology of polyphenol compounds has led to the discovery that dietary supplementation with foods rich in polyphenols (e.g.