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在德国、奥地利和瑞士的临床实验室中进行遗传性血小板缺陷检测。德国血栓与止血研究学会(GTH)儿科永久小组进行的一项调查结果。

Testing for inherited platelet defects in clinical laboratories in Germany, Austria and Switzerland. Results of a survey carried out by the Permanent Paediatric Group of the German Thrombosis and Haemostasis Research Society (GTH).

机构信息

Department of Paediatrics, Innsbruck Medical University, Austria.

出版信息

Platelets. 2010;21(6):470-8. doi: 10.3109/09537104.2010.482163.

Abstract

Inherited platelet defects are a rare and heterogeneous group of disorders. The majority of affected patients present with mild to moderate bleeding tendencies. However, in trauma and surgery, bleeding may be difficult to control. Laboratory tests for diagnosis are necessary for the prevention and treatment of critical bleeding. The aim of the THROMKID study was to obtain information on the means of investigating platelet function employed by clinical centres in German-speaking countries. For this purpose a patterns-of-practice survey was conducted from 2005 to 2007, the results of which are reported here. A total of 37 out of 41 identified clinical centers serving 98 million people completed the survey questionnaire. The number of tests offered for assessment of platelet function varied between 1 and 11, median 4. Aggregometry continued to be the most popular and helpful technique for evaluation of suspected platelet function disorders (100%). The PFA-100(R) CT (76%) and in vivo bleeding time (54%) were used to screen patients with suspected platelet function disorders. Selection of tests was based on a case-by-case decision at most centres (82%). The majority of centres performed specific platelet function tests less than 50 times per month. This survey illustrates the preferences of clinical centres in the selection, performance and interpretation of platelet function tests. These practices may considerably influence the detection and diagnosis of platelet function disorders. There is an urgent need for existing tests to be improved and new, fast and reliable tests of platelet function to be developed.

摘要

遗传性血小板缺陷是一组罕见且异质性的疾病。大多数受影响的患者表现为轻度至中度出血倾向。然而,在创伤和手术中,出血可能难以控制。为了预防和治疗严重出血,有必要进行诊断性实验室检查。THROMKID 研究的目的是获取有关德国语区临床中心血小板功能检测方法的信息。为此,于 2005 年至 2007 年进行了一项实践模式调查,现将结果报告如下。共有 41 个确定的临床中心中的 37 个为 9800 万人提供服务,完成了问卷调查。评估血小板功能的检测数量从 1 到 11 个不等,中位数为 4。聚集试验仍然是评估疑似血小板功能障碍最受欢迎和最有帮助的技术(100%)。PFA-100(R)CT(76%)和体内出血时间(54%)用于筛选疑似血小板功能障碍的患者。大多数中心(82%)根据具体情况决定选择检测。大多数中心进行特定的血小板功能检测每月少于 50 次。这项调查说明了临床中心在选择、执行和解释血小板功能检测方面的偏好。这些做法可能会极大地影响血小板功能障碍的检测和诊断。目前迫切需要改进现有检测方法,并开发新的、快速和可靠的血小板功能检测方法。

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