睡眠医学图片：沃尔夫拉姆综合征中的睡眠呼吸障碍--差点致命的事件

IF 3.8 2区医学 Q1 CLINICAL NEUROLOGY Sleep medicine Pub Date : 2024-09-12 DOI:10.1016/j.sleep.2024.09.012

Mariana Serino , Pedro Amorim , Ana Pimentel , Paulo Viana , José Manuel Pereira , Mafalda van Zeller

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引用次数: 0

摘要

沃尔夫拉姆综合征（WS）是一种罕见的常染色体隐性遗传疾病。作者报告了一例 WS 患者的病例，该患者患有阻塞性睡眠呼吸暂停（OSA），且未得到诊断/治疗，伴有长时间的呼吸暂停、低通气和夜间低氧血症，这可能导致他在睡眠中发生几乎致命的事件。解决 WS 患者的睡眠呼吸障碍问题可以提高他们的生活质量，并有可能延长他们的寿命。

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Images in sleep medicine sleep-disordered breathing in Wolfram's syndrome - A near-fatal event

Wolfram syndrome (WS) is a rare autosomal-recessive genetic disorder. The authors report a case of a patient with WS and undiagnosed/untreated obstructive sleep apnea (OSA) associated with prolonged periods of apnea and hypopnea and nocturnal hypoxemia, which may have predisposed him to the development of a near-fatal event during sleep. Addressing sleep-disordered breathing in patients with WS could improve their quality of life and potentially their longevity.

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来源期刊

Sleep medicine 医学-临床神经学

CiteScore

8.40

自引率

6.20%

发文量

1060

审稿时长

49 days

期刊介绍： Sleep Medicine aims to be a journal no one involved in clinical sleep medicine can do without. A journal primarily focussing on the human aspects of sleep, integrating the various disciplines that are involved in sleep medicine: neurology, clinical neurophysiology, internal medicine (particularly pulmonology and cardiology), psychology, psychiatry, sleep technology, pediatrics, neurosurgery, otorhinolaryngology, and dentistry. The journal publishes the following types of articles: Reviews (also intended as a way to bridge the gap between basic sleep research and clinical relevance); Original Research Articles; Full-length articles; Brief communications; Controversies; Case reports; Letters to the Editor; Journal search and commentaries; Book reviews; Meeting announcements; Listing of relevant organisations plus web sites.