نتایج جستجو برای: allgrove syndrome
تعداد نتایج: 621917 فیلتر نتایج به سال:
سندرم آلگرو (allgrove syndrome) ،سندرم تریپل آ یا نقص فامیلی گلوکوکورتیکوئید یک نقص ژنتیکی نادر با توارث اتوزوم مغلوب است و اولین بار درسال1978 توسط الگرو و همکارانش گزارش گردید. سندرم آلگرو با فقدان اشک (آلاکریما )، نقص ایزوله گلوکوکورتیکوئید و آشالازی قسمت تحتانی مری شناسایی می شود. یافته های عصبی و پوستی نیز درتعدادی از بیماران دیده می شود. افزایش رنگدانه پوستی و فقدان اشک از یافته های کلیدی...
Allgrove or 4 "A" syndrome: an autosomal recessive syndrome causing multisystem neurological disease
To cite: Thomas J, Subramanyam S, Vijayaraghavan S, et al. BMJ Case Rep Published online: [please include Day Month Year] doi:10.1136/bcr-2014208900 DESCRIPTION A 26-year-old man presented with progressive difficulty in swallowing for 2 years and increased skin pigmentation for 1 year. This was associated with a loss of weight despite a preserved appetite. He had a lack of tears since childhood...
The aim of the present paper is to report the anesthesia administration to a patient who was planned to undergo Heller myotomy for achalasia. There wasnot property in the patient whom allgrove syndrome was excepted any steroid treatment in preoperative period. The night before the operation 18 mg of prednisolone was administered intravenously. Induction of anesthesia was performed with thiopent...
BACKGROUND Triple A syndrome (or Allgrove syndrome) is a rare autosomal recessive disorder characterized by alacrima, achalasia, adrenal insufficiency and autonomic/neurological abnormalities. The majority of cases are caused by mutations in the AAAS gene located on chromosome 12q13. However, the clinical picture as well as genetic testing may be complex since symptomatology is variable and mut...
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