منابع مشابه
update on hyper ige syndrome (hies)
hyper ige syndrome (hies) is a rare primary immunodeficiency disease. most of hies cases are sporadic. hies type ad is caused by mutation in signal transducer and activator of transcription-3 (stat-3). a number of mosaicism hies has been reported that is associated with intermediate phenotype. autosomal recessive hies (ar-hies) is due to mutation in dock-8 or cytokine sis 8 and tyk2 or tyrosine...
متن کاملMSX1 Mutation in Witkop Syndrome; A Case Report
The Witkop syndrome is a rare autosomal dominant disorder characterized by the absence of several teeth and abnormalities of the nails. This is the first report of a rare genetic tooth and nail syndrome diagnosed in a 2.5-year-old boy with early exfoliation of the primary canine, absence of the primary incisors, and nail dysplasia. A homozygous mutation was identified in 3’-UTR of MSX1 gene in ...
متن کاملUpdate on carcinoid syndrome.
The carcinoid syndrome is a result of the release of multiple carcinoid tumor factors, particularly serotonin, kinins, and histamine. These factors cause flushing, hemodynamic instability, right-sided heart disease, bronchospasm, and gastrointestinal symptoms. A through preoperative assessment concentrating on these areas is necessary. The use of invasive monitors perioperatively, with the avoi...
متن کاملBrugada syndrome--an update.
A diagnostic triad characterizes Brugada syndrome. It consists of a right bundle branch block, ST-segment elevation in leads V1-V3 and sudden cardiac death (SCD). Approximately 50% of patients with Brugada syndrome noted to have familial occurrence, this suggests a genetic component of the disease. Mutations in gene SCN5A, an encoder for human cardiac sodium channel on chromosome 3p21, causes B...
متن کاملPOEMS SYNDROME: an Update
POEMS syndrome is a rare, chronic and disabling condition. The causes of this condition remain unknown; however, chronic overproduction of proinflammatory cytokines appears to be a major contributor. Early diagnosis is essential to start treatment before the clinical state of the patient becomes compromised. A complete evaluation of the disease at its onset is critical to the treatment decision...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: Human Mutation
سال: 2020
ISSN: 1059-7794,1098-1004
DOI: 10.1002/humu.23968