寻找HLA匹配无关供者概率曲线的计算及其应用

目的　建立在骨髓库中寻找到HLA匹配供者概率曲线P的回归方程式 ,并用于评估骨髓库的最适大小。方法　在哈迪 -温伯格群体中的HLA单体型频率可以从供者表型资料求得。寻找到一个HLA匹配供者的概率可以表示成供者数和HLA单体型频率的函数。使用对数曲线拟合方法推导出该概率曲线的回归方程。结果　笔者推导出在中国人骨髓库中寻找到至少一例HLA -A ,B ,DR抗原全配合供者概率的回归方程式为P =- 0 .6 7+0 .2 5lgN(N为骨髓库中的供者数 ,介于 5万到 1 0 0万 )。在骨髓库供者数达到 75万人时 ,大约 80 %的患者可以找到HLA配合供者。结论　找到HLA配合供者概率取决于骨髓库供者人数的多寡以及HLA单体型频率。HLA群体遗传学资料有助于决定骨髓库的最适大小及其供者成员的组成。     

线粒体基因的分子诊断:早期氨基糖苷类抗生素耳毒作用的发现与预防

氨基糖苷类抗生素如庆大霉素、链霉素和托普霉素等都是在临床上非常重要的药物,而这些药物的使用常常会导致部分病人听力不可逆的损伤,在耳聋病人中,有很高比例是由于氨基糖苷类抗生素的耳毒性引起的.在家族性的药物损伤性耳聋中,氨基糖苷类抗生素耳毒性的高度敏感通常为母系遗传,提示线粒体DNA上的突变可能是导致此类症状的分子生物学基础.突变分析发现在线粒体12S rRNA上发现了多个和严重的药物性耳聋相关的基因突变,其中尤以A1555G和C1494T突变在氨基糖苷类抗生素引发的耳聋病例中占有显著的比重.A1555G或C1494T突变在12S rRNA的A区形成一个新的结合碱基对,使12S rRNA的二级结构与细菌的16S rRNA更为相似,促进了氨基糖苷类抗生素与之结合,使得带该类突变的个体在使用氨基糖苷类抗生素后会发生或者加重听力缺失.一系列的研究数据提供了有价值的信息和技术,使得预测哪些人具有氨基糖苷类抗生素耳毒性的高风险成为可能,同时提高了氨基糖苷类抗生素治疗的安全性,对于降低耳聋的发病率具有重大的意义.     

Early childhood development: putting knowledge into action

As part of its continuing mission to serve trustees and staff of health foundations and corporate giving programs, Grantmakers In Health (GIH) convened a select group of grantmakers and national experts who have made a major commitment to improve the health and well being of young children. The roundtable explored the latest research examining early childhood development, as well as public and private programs serving families with young children. The discussion ultimately centered upon the importance of grantmaker involvement to improve early childhood development, including the services delivered to young children and their families, training for professionals, and continued research and evaluation. This report brings together key points from the day's discussion with factual information on demographic, health and human services, and public policy trends drawn from a background paper prepared for the meeting. When available, recent findings, facts, and figures have been incorporated.     

高免疫球蛋白E综合征：2例报道及文献回顾

高免疫球蛋白E综合征(H IES)是一种罕见的免疫缺陷性疾病,表现为血清IgE水平升高、皮肤湿疹、反复皮肤感染和特征性的肌肉骨骼表现。作者报道2例在本院就诊的患者并回顾当前文献。患者1是一18个月大的非裔美国男孩,伴有复发性葡萄球菌冷脓肿、肺炎和菌血症。该患者皮肤严重湿疹     

头皮原发性皮肤神经节细胞瘤

神经节细胞瘤是一种神经内分泌肿瘤，其发生与自主神经系统的交感或副交感神经节有关。罕见发生于膀胱、前列腺和子宫。本文作者报道1例发生于儿童头皮的原发性皮肤神经节细胞瘤。对此肿瘤进行了组织学、免疫组化和超微结构研究。该病例可能代表神经嵴细胞向鳃弓发育过程中的一种异常迁移。此外，研究结果还强调在胚胎发育过程中神经嵴和鳃弓／裂之间有复杂的相互作用。     

在非裔美国人中用1％吡美莫司软膏治疗伴色素减退的脂溢性皮炎的先导性试验

背景:非裔美国人发生脂溢性皮炎时可伴色素减退。治疗通常应用皮质激素和抗真菌药,然而长期使用皮质激素可导致皮肤萎缩,眼内压增高,或加重色素减退。吡美莫司已被成功用于治疗一些脂溢性皮炎患者。目的:此开放性预试验用于评估吡美莫司治疗非裔美国人中伴色素减退的脂溢性皮炎     

联用alefacept和依那西普治疗3例单用依那西普治疗无效的银屑病患者

本文报道联用alefacept和依那西普治疗3例单用依那西普疗效不佳的银屑病患者。完成12周alefacept治疗后，所有患者病情改善，且持续了至少8周。无副反应或感染发生，CD4＋T细胞计数高于正常值。     

A Novel Digital Tourniquet Using a Sterile Glove and Hemostat

Background. Surgery of the digit is facilitated with adequate hemostasis for visualization of the operative field. Several types of tourniquets have been used for this purpose, including glove fingers, Penrose drains, Marmed digital tourniquets, and standard pneumatic tourniquets.
Objective. To present a novel method to achieve hemostasis during surgery of the digit.
Materials. A slightly oversized sterile glove, a hemostat, and a pair of scissors.
Conclusion. We present a novel method to achieve hemostasis using a sterile glove and a hemostat, that allows the surgeon to methodically titrate the amount of compression necessary to attain a bloodless field while minimizing the risks of excessive pressures.
Surgery of the digit is facilitated with adequate hemostasis for visualization of the operative field. Several types of tourniquets have been used for this purpose, including glove fingers, Penrose drains, Marmed digital tourniquets, and standard pneumatic tourniquets. We present a novel method to achieve hemostasis using a sterile glove and a hemostat that allows the surgeon to methodically titrate the amount of compression necessary to attain a bloodless field while minimizing the risks of excessive pressures.