1型葡萄糖转运体缺陷综合征一例报告及文献复习

目的总结1型葡萄糖转运体缺陷综合征的临床特点、实验室检查、分子遗传学诊断及生酮饮食治疗疗效。方法报告1例以痫样发作为首发的1型葡萄糖转运体缺陷综合征病例。检索国内外相关文献,共检索出明确诊断的1型葡萄糖转运体缺陷综合征32例,进行文献复习。结果包括作者报告1例患者,共33例,男19例,女14例。临床特点:27/33例有痫样发作,发作年龄2个月至35岁之间。大多发作年龄在6个月以内。25/33例有共济失调,大多数轻中度共济失调,少部分患者共济失调影响行走及日常生活。24/33例肌张力障碍。14/33例有小头畸形。实验室检查:30/33例患者进行了脑脊液糖检查,23-56mg/dl之间,平均34.2±4.7mg/dl。脑脊液糖/血糖0.24-0.57之间,平均0.38±0.07。21/33例患者进行了红细胞摄取3-O-甲基-D-葡萄糖的能力检查,结果显示红细胞摄取3-O-甲基-D-葡萄糖的能力较正常对照下降约50%左右。29/33例进行了脑电图检查,发现痫样放电25例,表现为多灶性棘波、棘慢波。32/33例患者进行了GLUT1-DS基因SLC2A1筛查,发现12例错义突变,2例无义突变,2例插入突变,16例缺失或剪切位点突变。治疗:所有癫痫患者均进行了抗癫痫药物治疗,痫样发作均难以控制。28/33例患者(25例癫痫患者和3例发作性运动障碍)进行了生酮饮食治疗。24例癫痫患者的痫样发作完全控制,1例痫样发作明显缓解。3例发作性运动障碍明显改善。结论 1型葡萄糖转运体缺陷综合征临床以难治性痫样发作、语言智能发育落后、脑脊液糖/血糖明显降低为特点,常规抗癫痫药物难以控制痫样发作,生酮饮食能够控制痫样发作,并对语言、认知、运动障碍均有改善作用。     

天水医事简略

天水地处甘肃东南部,历史悠久,医疗卫生源远流长,名家辈出,由于古时兵乱灾疫较多,加之造纸术,印刷术落后,使得众多珍贵文献难以保存至今,本文就笔者研习所得做一简要阐述。     

婴儿组织胞浆菌病1例并文献复习

目的提高对婴儿组织胞浆菌病(histoplasmosis,HP)的认识。方法报告1例婴儿组织胞浆菌病,并结合文献对该病病原学、流行病学、临床表现、诊断和治疗等方面进行分析。结果婴儿HP以不规则发热、咳嗽、腹泻、肝脾肿大为主要临床表现,骨髓穿刺检查找到组织胞浆菌确诊。结论 HP是由荚膜组织胞浆菌感染所致的一种以侵犯网状内皮系统或肺部为主的深部真菌病。婴儿HP临床表现多样,以播散型为主,病情进展迅速,在短期内即可造成多器官功能衰竭而导致救治失败。确诊有赖病原学的检查。     

A High Bifurcation of the Dorsal Branch with Dominant Superficial Palmar Branch of the Radial Artery: A Case Report of an Aberrant Radial Artery with Traumatic Aneurysm

Anatomical abnormalities such as unusual bifurcations or aberrant arteries of the radial artery are extremely rare and due to malformation or disruption of the vascular net. We present a case of a 64 year old woman with a high bifurcated dorsal branch of the left radial artery, consulting us for a pulsatile mass in the anatomical snuffbox after a fall. The mass measured 3–4 mm in diameter and was located on the dorsal aspect of the wrist over the anatomical snuffbox. Primary imaging studies using Duplex Ultrasound suggested an aneurysm of the radial artery, further imaging with arteriogram revealed a high bifurcation of the dorsal branch of the radial artery, presenting with an aneurysm. The deep palmar branch of the ulnar artery was the dominating vessel, allowing ligation and excision of the aneurysm. Histological evaluation revealed intimal wall hyperplasia within the aneurysm, suggesting an injury as initiating factor. A review of the literature showed that this abnormality of high bifurcation of the dorsal palmar branch of the radial artery has not been previously reported. Management of aneurysms at the wrist is discussed.     

学术论文作者机构规范文档构建

以中国生物医学文献数据库为基础,面向基于学术论文开展机构检索、分析与评价相关知识服务需要,对学术论文作者机构名称规范目标与内容、体系结构与组织方式以及构建过程与实现策略进行研究、实践总结。     

Strategies intended to address vaccine hesitancy: Review of published reviews

When faced with vaccine hesitancy, public health authorities are looking for effective strategies to address this issue. In this paper, the findings of 15 published literature reviews or meta-analysis that have examined the effectiveness of different interventions to reduce vaccine hesitancy and/or to enhance vaccine acceptance are presented and discussed. From the literature, there is no strong evidence to recommend any specific intervention to address vaccine hesitancy/refusal. The reviewed studies included interventions with diverse content and approaches that were implemented in different settings and targeted various populations. Few interventions were directly targeted to vaccine hesitant individuals. Given the paucity of information on effective strategies to address vaccine hesitancy, when interventions are implemented, planning a rigorous evaluation of their impact on vaccine hesitancy/vaccine acceptance will be essential.     

近35年文献的银屑病关节炎中医证候分布特点分析

【目的】分析对1979～2013年35年间的银屑病关节炎（psoriatic arthritis, PsA)研究文献,探讨PsA的中医证候特点,为临床辨证分型提供依据。【方法】利用多个数据库对1979～2013年的中医药期刊所报道的PsA中医辨证分型的文献进行检索,提取其中涉及到的中医证候信息,对文献中出现的PsA证候进行名称规范并归类,应用统计软件SPSS 17.0对证候、证素、舌脉的频次、频率进行统计分析。【结果】共检出文献84篇,符合要求者26篇。共出现10种舌质、15种舌苔、22种脉象。经规范证候名称后,获得共计39种中医证型,进一步对相近证候进行归并,最终得到14种证型,最常见的前5位证型为风湿热痹、风热血燥、热毒炽盛、风寒湿痹、肝肾亏虚。将上述证型按病性证素分布进行统计分析,得到PsA相关病性证素有14种,对其进行二次归并后得到9种证素,居于前6位的为热、痰湿、风、燥、虚、血瘀。【结论】 PsA的证候类型繁多,证素分布中除寒、热外,亦与痰湿、风、燥、血瘀相关,提示寒、热、痰湿、风、燥、血瘀在PsA发病中占有重要的地位。     

结直肠碰撞瘤1例及文献复习

目的探讨结直肠碰撞瘤(CRCT)的临床病理特征。方法对1例CRCT患者的临床资料进行分析,并行组织学观察、免疫组化和基因检测,进而复习相关文献,同顾性分析国内外11例CRCT情况。结果 CRCT以高龄(>65岁)男性患者多见,临床表现无特殊,术前诊断率低,最后诊断需病理检查与免疫组化检查,基因分析有助诊断。病理特点为同一部位出现2个不同组织类型的肿瘤结合,瘤组织间无移行和混合,有各自的转移途经,以腺癌和恶性淋巴瘤的碰撞多见。治疗以手术为丰,辅以化疗、放疗。结论 CRCT在临床中罕见,诊断、治疗均困难,预后较差,临床需要提高认识,相关的临床病理特点有待进一步总结。     

医院门诊开展分时段就诊的思考

基于目前大型综合医院门诊患者流量过于集中的现状,为进一步规范就诊秩序,改善就诊感受,在多年来开展预约诊疗的基础上,探索分时段就诊方式。按时段测算各科室门诊流量,调整信息系统,分配不同时段的号源数量。同时组织医务人员培训,宣传、引导患者按照建议时段就诊,转变医院管理理念和患者就诊习惯。通过监测按建议时段就诊符合率、问卷调查等阶段性评价手段,发现医患双方对分时段就诊具有一定知晓、关注和认可程度,同时也反映出实际运行中的问题。