Journal of investigative medicine : the official publication of the American Federation for Clinical Research
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Retracted Publication
Mutation analysis of WASF2 and GALE genes in one Chinese family with benign familial infantile convulsions with a novel locus.
Benign familial infantile convulsions (BFIC) are an autosomal dominant form of idiopathic epilepsy in which partial and generalized seizures commence in the first 3 months of life and spontaneously remit by age 1 year. As it is still unknown whether WASF2 and GALE genes are responsible for pure BFIC syndromes, in this article, mutations of the WASF2 and GALE genes in the proband of one Chinese family with pure BFICs were studied. ⋯ One exonic variant (1047A-->G) and one intronic variant (IVS10+13A-->G), neither causing a modification of the physiologic messenger ribonucleic acid maturation, were found. The WASF2 and GALE genes do not appear to be involved in the ethiopathogenesis of pure BFIC syndromes, at least in the Chinese family we studied.
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Bronchopulmonary dysplasia (BPD) is a pulmonary disorder that causes significant morbidity and mortality in premature infants. BPD is pathologically characterized by inflammation, fibrosis, and mucosal necrosis, which leads to emphysematous coalescence of alveoli. We tested the hypothesis that azithromycin, a macrolide antibiotic, would decrease the severity of lung injury in an animal model of BPD. ⋯ Azithromycin significantly decreased lung damage as determined by the mean linear intercept in the hyperoxia groups (p < .001). Finally, azithromycin-treated pups had lower levels of IL-6 in lung homogenate from the hyperoxia groups (p < .05). Azithromycin treatment resulted in improved survival, less emphysematous change, and decreased IL-6 levels in an animal model of BPD.
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African Americans commonly have normal high-density lipoprotein cholesterol (HDL-C) and low triglyceride levels despite having insulin resistance and obesity. The higher than expected HDL-C levels are usually attributed to low levels of hepatic triglyceride lipase (HTGL) activity. Factors that regulate HTGL in African Americans are not well delineated. ⋯ The data suggest that adiponectin is a significant metabolic concomitant of HTGL activity in African Americans.
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Obesity has become an international public health concern. In the United States, the rates of overweight and obesity have escalated dramatically in the last several decades. The health implications of obesity stem from its relationship with the development and progression of several health complications and diseases. ⋯ Although this basic biological variable is an obvious area for scientific study, research analyzing the influence of sex on obesity and cardiovascular disease is gravely lacking. The Society for Women's Health Research convened a workshop of obesity and cardiovascular disease experts in November 2005 to identify the gaps in scientific knowledge and crucial next steps in research related to sex differences in obesity and cardiovascular disease. This meeting report describes the workshop attendees' recommendations in detail.