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. Light microscopic, ultrastructural, and immunohistochemical studies showed abnormal lamination of the small intestinal muscularis propria with associated absent or severely reduced FLNA immunoreactivity. Intestinal samples from the oldest patient in the series, a teenager, showed multinucleate myocytes in small and large intestine, along the submucosal surface of the muscularis propria. As neither DAL nor the pattern of myocyte multinucleation observed in our patients have been described outside the context of X-linked intestinal pseudo-obstruction, these histopathologic features may be specific for this hereditary disorder and suggest an underlying myopathic basis for dysmotility in affected patients.

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. RESULTS: More risk managers than physicians were aware that an error-reporting system was present at their hospital (81% versus 39%, p < .001) and believed that mechanisms to inform physicians about errors in their hospital were adequate (51% versus 17%, p < .001). More risk managers than physicians strongly agreed that serious errors should be disclosed to patients (70% versus 49%, p < .001). Across both error scenario, risk managers were more likely than physicians to definitely recommend that the error be disclosed (76% versus 50%, p < .001) and to provide full details about how the error would be prevented in the future (62% versus 51%, p < .001). However, physicians were more likely than risk managers to provide a full apology recognizing the harm caused by the error (39% versus 21%, p < .001). CONCLUSIONS: Risk managers have more favorable attitudes about disclosing errors to patients compared with physicians but are less supportive of providing a full apology. These differences may create conflicts between risk managers and physicians regarding disclosure. Health care institutions should promote greater collaboration between these two key participants in disclosure conversations.

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. PARTICIPANTS: University-affiliated hospital and community pediatricians and pediatric residents. Main Exposure Anonymous 11-item survey administered between July 1, 2003, and March 31, 2004, containing 1 of 2 scenarios (less or more apparent to the child's parent) in which the respondent had caused a serious medical error. MAIN OUTCOME MEASURES: Physician's intention to disclose the error to a parent and what information the physician would disclose to the parent about the error. RESULTS: The response rate was 56% (205/369). Overall, 53% of all respondents (109) reported that they would definitely disclose the error, and 58% (108) would offer full details about how the error occurred. Twenty-six percent of all respondents (53) would offer an explicit apology, and 50% (103) would discuss detailed plans for preventing future recurrences of the error. Twice as many pediatricians who received the apparent error scenario would disclose the error to a parent (73% [75] vs 33% [34]; P < .001), and significantly more would offer an explicit apology (33% [34] vs 20% [20]; P = .04) compared with the less apparent error scenario. CONCLUSIONS: This study found marked variation in how pediatricians would disclose a serious medical error and revealed that they may be more willing to do so when the error is more apparent to the family. Further research on the impact of professional guidelines and innovative educational interventions is warranted to help improve the quality of error disclosure communication in pediatric settings.

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. blueberries, green tea extract) provides neuroprotection in adult animal models of ischemia and Alzheimer's disease. We sought to determine whether protection of the neonatal brain against a hypoxic-ischemic insult could be attained through supplementation of the maternal diet with pomegranate juice, notable for its high polyphenol content. Mouse dams were provided ad libitum access to drinking water with pomegranate juice, at one of three doses, as well as plain water, sugar water, and vitamin C water controls during the last third of pregnancy and throughout the duration of litter suckling. At postnatal day 7, pups underwent unilateral carotid ligation followed by exposure to 8% oxygen for 45 min. Brain injury was assessed histologically after 1 wk (percentage of tissue area loss) and biochemically after 24 h (caspase-3 activity). Dietary supplementation with pomegranate juice resulted in markedly decreased brain tissue loss (>60%) in all three brain regions assessed, with the highest pomegranate juice dose having greatest significance (p < or = 0.0001). Pomegranate juice also diminished caspase-3 activation by 84% in the hippocampus and 64% in the cortex. Ellagic acid, a polyphenolic component in pomegranate juice, was detected in plasma from treated but not control pups. These results demonstrate that maternal dietary supplementation with pomegranate juice is neuroprotective for the neonatal brain.