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  • 文章类型: Case Reports
    Crisponi综合征是一种罕见且严重的遗传性疾病,以肌肉收缩为特征,刺耳,呼吸暂停,喂养麻烦,原因不明的高烧伴随多器官衰竭.在这里,我们报告了一名17个月大的Crisponi综合征女性儿童的内镜胃造瘘术的围手术期护理。严格监测手术室的温度并保持在19°C。患者暴露于吸入和静脉麻醉剂。手术和围手术期都很顺利。Crisponi综合征的发热发作起因于CRLF1突变,这不同于恶性高热的生理途径。
    Crisponi syndrome is a rare and severe heritable disorder characterised by muscle contractions, trismus, apnea, feeding troubles, and unexplained high fever spikes with multiple organ failure. Here we report perioperative care for endoscopic gastrostomy of a 17 month-old female child with Crisponi syndrome. Temperature in the surgery room was strictly monitored and maintained at 19°C. The patient was exposed to both inhaled and intravenous anesthetic agents. Surgical and perioperative periods were uneventful. Episodes of fever in Crisponi syndrome arise from CRLF1 mutation, which differs from the physiological pathway underlying malignant hyperthermia.
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  • 文章类型: Case Reports
    1992年,Brugada和Brugada首次描述了一个新实体,被称为布鲁加达综合症,在没有结构性心脏病的患者中,这与室性心律失常和心源性猝死的高风险相关。这种综合征的特征是一个独特的心电图表型,1型Brugada模式,由狭窄的ST段抬高(≥0.2mV)组成,然后在一个以上的右心前导联中出现负T波。这种模式是动态的,可以是自发的或隐藏的,但在某些情况下被揭露,比如发热州。作者报告了一例在发热状态下复发性晕厥的病因研究过程中诊断为Brugada综合征的病例。
    In 1992, Brugada and Brugada first described a new entity, which became known as Brugada syndrome, that is associated with a high risk of ventricular arrhythmias and sudden cardiac death in patients without structural heart disease. This syndrome is characterized by a distinct electrocardiographic phenotype, type 1 Brugada pattern, consisting of a coved ST-segment elevation (≥0.2 mV) followed by a negative T wave in more than one right precordial lead. This pattern is dynamic, and can be spontaneous or concealed, but is unmasked under certain circumstances, like febrile states. The authors report a case in which the diagnosis of Brugada syndrome was made in the course of etiologic investigation of recurrent syncope in a febrile state.
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