منابع مشابه
H Syndrome Masquerade as Rheumatologic Disease
Background H syndrome is an autosomal recessive genodermatosis with a low prevalence which is caused by a mutation in SLC29A3 gene. This disorder is characterized by sclerotic, hyperpigmented, hypertrichotic cutaneous plaques with systemic involvement including: hepatosplenomegaly, heart anomalies, hearing loss, hypogonadism, low height, and hyperglycemia. Case Presentation Here we have pres...
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The case history of a 40-year-old woman with a fatal haemorrhage from a duodenal ulcer, jejunitis, renal lithiasis, hypertrophy of the adrenal glands, multiple adenomas of the pancreas, and three adenomas of both the parathyroid and pituitary glands is reported. Though there was histological evidence, in the bones, of hyperparathyroidism, the serum levels of calcium, phosphorus, and phosphatase...
متن کاملRett Syndrome: A Focus on Gut Microbiota
Rett syndrome (RTT) is an X-linked neurodevelopmental disorder affecting 1 in 10,000 live female births. Changes in microbiota composition, as observed in other neurological disorders such as autism spectrum disorders, may account for several symptoms typically associated with RTT. We studied the relationship between disease phenotypes and microbiome by analyzing diet, gut microbiota, and short...
متن کاملAcute Coronary Syndrome: Focus on Antiplatelet Therapy.
The American Heart Association/American College of Cardiology in 2014 published a focused update of the 2007 and 2012 guidelines for non-ST-segment elevation acute coronary syndrome (NSTE-ACS). The management of ST-segment elevation myocardial infarction (STEMI) is described in a separate guideline published in 2013. The focused updates to the guidelines contain updated recommendations for dual...
متن کاملEndocrine autoimmunity in Turner syndrome
BACKGROUND Turner syndrome is caused by numeric and structural abnormalities of the X chromosome. An increased frequency of autoimmunity as well as an elevated incidence of autoantibodies was observed in Turner patients. The aim of this study was to conduct a retrospective analysis of the incidence of autoimmunity in 66 Italian patients affected by Turner syndrome. METHODS Sixty-six unselecte...
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ژورنال
عنوان ژورنال: AACE Clinical Case Reports
سال: 2016
ISSN: 2376-0605
DOI: 10.4158/ep15824.co