Suppr超能文献

一例患有新的沃夫勒姆综合征突变患者的反复自杀行为:从基因到行为的关联

Repetitive Suicidal Behaviors in a Case With a New Mutation of Wolfram Syndrome: A Jump From the Gene to the Behavior.

作者信息

Mirfazeli Fatemeh Sadat, Mohebi Fatemeh, Jahanbakhshi Amin, Aryani Omid, Almasi-Dooghaee Mostafa

机构信息

Mental Health Research Center, Psychosocial Health Research Institute, Iran University of Medical Sciences, Tehran, Iran.

Department of Psychiatry, School of Medicine, Iran University of Medical Sciences, Tehran, Iran.

出版信息

Basic Clin Neurosci. 2022 Nov-Dec;13(6):893-900. doi: 10.32598/bcn.2021.910.3. Epub 2022 Nov 1.

Abstract

Wolfram syndrome (WS) is a rare autosomal recessive neurodegenerative disease with variable symptoms, including neuropsychiatric manifestations. A 26-year-old man was reported with classic symptoms of WS and repetitive psychiatric hospitalizations and at least 16 suicidal attempts. The genetic study demonstrated a novel homozygous stop-codon mutation on the WFS1 gene. This special type of mutation may be related to repetitive suicidal behaviors in this case of WS. Psychological support should be a routine practice in patients with WS.

摘要

沃夫勒姆综合征(WS)是一种罕见的常染色体隐性神经退行性疾病,症状多样,包括神经精神方面的表现。据报道,一名26岁男性患有WS的典型症状,多次因精神疾病住院,且至少有16次自杀未遂。基因研究显示WFS1基因上存在一种新的纯合终止密码子突变。在该例WS患者中,这种特殊类型的突变可能与反复自杀行为有关。心理支持应成为WS患者的常规治疗手段。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4c41/10262289/7e31ae74cbc2/BCN-13-893-g001.jpg

文献检索

告别复杂PubMed语法,用中文像聊天一样搜索,搜遍4000万医学文献。AI智能推荐,让科研检索更轻松。

立即免费搜索

文件翻译

保留排版,准确专业,支持PDF/Word/PPT等文件格式,支持 12+语言互译。

免费翻译文档

深度研究

AI帮你快速写综述,25分钟生成高质量综述,智能提取关键信息,辅助科研写作。

立即免费体验