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目的 颅面短小畸形 (craniofacial microsomia, CFM) 是一组临床表型多样的先天性颅颌面畸形, 除可累及颅面骨 骼及体表软组织器官外, 患者的口颌功能及呼吸通气功能也会受到影响. CFM 患者中阻塞性睡眠呼吸暂停 (obstructive sleep apnea, OSA) 的发病率为 7%~67%, 远高于一般人群 (3%~4%). OSA 可引起肺动脉高压、肺心病以及猝死等多种严重并发症. 因 此, 对于 CFM 患者 OSA 的早期筛查、诊断以及干预在 CFM 的综合治疗中至关重要. OSA 的常见治疗方式包括持续气道正压等 保守治疗及正颌手术、牵张成骨术、气管切开术等多种手术方式. 由于 CFM 的特殊颅面畸形使得 OSA 的治疗更加复杂, 应根据 患者的临床症状、畸形程度、年龄及合并症等多种因素制定个性化的治疗方案. 现就 CFM 患者 OSA 的相关诊疗进展作一综述. [ABSTRACT FROM AUTHOR]

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吹口哨面容综合征 (whistling face syndrome, WFS) 是一种先天性肌病颅面综合征。临床表现变异性极大。主要临床 表现为严重的小口畸形, 撅嘴如吹口哨状、鼻唇沟深、内眦赘皮、睑裂狭小、下颌“V”或“H”形的瘢痕样凹陷。有的患者会有手指 屈曲挛缩、内翻马蹄足等症状。神经认知功能一般无异常。该病确切发病率未知。现就 WFS 研究进展作一综述。 [ABSTRACT FROM AUTHOR]

【目的】山蛭素基因在甲醇毕赤酵母中表达。【方法】利用PCR 点突变方法改造山蛭素基因, 将山蛭素基因克隆 到pGEM-T easy 载体中。对重组质粒测序, 构建了毕赤酵母表达载体pPIZB-Hs , 然后转化有活性的GS115 酵母菌株, 筛选表 达酵母菌株GS115, 摇瓶发酵。【结果】改造的山蛭素基因在重组酵母中表达, 重组蛋白质具有对凝血酶抑制活性。【结论】 利用PCR 点突变方法能改造山蛭素基因, 并能在毕赤酵母中表达。

Copyright of Journal of Modern Medicine & Health is the property of Journal of Modern Medicine & Health and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Copyright of Nursing of Integrated Traditional Chinese & Western Medicine is the property of Journal of Clinical Nursing in Practice (Editorial Board, Shanghai Jiao Tong University Press) and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Copyright of Nursing of Integrated Traditional Chinese & Western Medicine is the property of Journal of Clinical Nursing in Practice (Editorial Board, Shanghai Jiao Tong University Press) and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)