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Goldenhar and cri-du-chat syndromes: a contiguous gene deletion syndrome?   总被引:2,自引:0,他引:2  
We report a full-term male infant born to nonconsanguinous parents who had clinical features of Goldenhar syndrome and cri du chat syndrome. At birth, the infant was noted to have dysmorphic features with bilateral preauricular tags, rotated ears, bilateral epicanthic folds, a left epibulbar lipodermoid, and an accessory left nipple. After he was assessed for feeding difficulty and tachypnea, he was found to have esophageal atresia with tracheoesophageal fistula. In addition, he had a high-pitched, cat-like cry, characteristic of cri-du-chat syndrome. He also failed a hearing test. Chromosomal analysis and fluorescence in situ hybridisation studies showed an unbalanced karyotype with a terminal deletion of the segment p14 on the short arm of chromosome 5, which is consistent with the cri-du-chat locus. The association of Goldenhar syndrome and cri-du-chat syndrome in this patient suggests that the chromosome 5p14 locus may harbor a gene implicated with Goldenhar syndrome.  相似文献   
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Reduction of transmission of human immunodeficiency virus type 1 (HIV-1) through human milk is needed. Alkyl sulfates such as sodium dodecyl sulfate (SDS) are microbicidal against HIV-1 at low concentrations, have little to no toxicity, and are inexpensive. The authors have reported that treatment of HIV-1-infected human milk with < or = 1% (10 mg/mL) SDS for 10 minutes inactivates cell-free and cell-associated virus. The SDS can be removed with a commercially available resin after treatment without recovery of viral infectivity. In this article, the authors report results of selective biochemical analyses (ie, protein, immunoglobulins, lipids, cells, and electrolytes) of human milk subjected to SDS treatment and removal. The SDS treatment or removal had no significant effects on the milk components studied. Therefore, the use of alkyl sulfate microbicides to treat milk from HIV-1-positive women may be a simple, practical, and nutritionally sound way to prevent or reduce transmission of HIV-1 while still feeding with mother's own milk.  相似文献   
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Hip fractures among elderly people frequently result in permanent disabilities, nursing home placement, and death. The bulk of hip fracture research focuses on elderly women. Within the Veterans Health Administration (VHA), the majority of patients are men. There are no published national reports on hip fractures with large male samples, or on related inpatient mortality among veterans. This retrospective study of 13,546 veterans with hip fracture discharges from 1998-2002 found unadjusted mortality rates are higher in the VHA, compared with the general population. VHA patients tend to be older men in poor health who stay in the hospital longer Increased knowledge about the risks and outcomes associated with hip fractures in men could lead to improved primary and secondary injury-prevention programs. Rehabilitation nurses in acute care can be catalysts in proactively incorporating protective devices, screening for osteoporosis, and initiating lifestyle changes in their plans of care to optimize outcomes for hip fracture patients.  相似文献   
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Reproductive Function in Epilepsy   总被引:10,自引:10,他引:0  
Summary: : The hypothalamic-pituitary-gonadal axis is a complex system within which both positive and negative feedback occur among its elements and higher brain systems. The occurrence of seizures and changes in the secretion of pituitary hormones can affect the feedback loop. Both seizures and antiepileptic drugs can affect the hypothalamic-pituitary-gonadal axis of males and females and cause changes in hormones and sexuality. Reproductive dysfunction has a social impact because of reduced fertility. Once conception occurs, live birth rates are not diminished. Prospective studies of men and women with epilepsy are needed.  相似文献   
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Transcutaneous oxygen measurements (TcpO2) have been shown to be an index of tissue perfusion and it has been suggested that the main haemodynamic variable influencing tissue perfusion is cardiac output, assuming that inspired oxygen remains constant. To investigate this hypothesis we studied 23 consecutive patients in order to identify if changes in cardiac output correlated with similar changes in TcpO2 measurements. No correlation was found to suggest that cardiac output was the main haemodynamic determinant of TcpO2 measurements.  相似文献   
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In 1995, the National League for Nursing commissioned a Panel on Interdisciplinary/Transdisciplinary Education. The focus of the Panel's work was to examine educational issues that transcend the health professions and to make recommendations for future implementation of an interdisciplinary approach to addressing them. This article is being simultaneously published by several professional journals. The goal is to seek as much feedback as possible.  相似文献   
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