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[克兰费尔特综合征:筛查研究进行早期诊断是否必要?]

[Klinefelter syndrome: is early diagnosis by screening study necessary?].

作者信息

Frey C

出版信息

Monatsschr Kinderheilkd. 1986 Feb;134(2):78-83.

PMID:3702879
Abstract

Diagnostic procedures and care for patients diagnosed as Klinefelter's syndrome, as well as the patients' coping with this situation, are examined on the basis of two case reports. Specifically, the screening for X-chromatin positive males (buccal smear) is considered. Besides necessary diagnostic procedures as careful somatopsychological examination remains of utmost importance. In cases with etiologically unclear and genetically not explainable learning disabilities, especially with reduced capacity for verbalization, the sex-chromatin examination is indicated. Because of its possible effect as a "self-fulfilling prophecy", a newborn screening is not recommended. Treatment and care should take into account all aspects of somatic and psychic datas. Educational and supportive psychotherapy and pharmacotherapy (Testosteron) should be combined. Co-operation should be interdisciplinary.

摘要

基于两份病例报告,对诊断为克兰费尔特综合征患者的诊断程序与护理,以及患者对这种情况的应对进行了研究。具体而言,考虑了对X染色质阳性男性(口腔涂片)的筛查。除了必要的诊断程序外,仔细的躯体心理检查仍然至关重要。对于病因不明且遗传学上无法解释的学习障碍病例,尤其是语言表达能力下降的情况,建议进行性染色质检查。由于其可能产生“自我实现预言”的影响,不建议进行新生儿筛查。治疗和护理应考虑躯体和心理数据的各个方面。应将教育性和支持性心理治疗与药物治疗(睾酮)相结合。合作应是跨学科的。

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