نتایج جستجو برای: bart pumphrey syndrome
تعداد نتایج: 623293 فیلتر نتایج به سال:
Asp66his, Asp54Lys, and Asp50Asn are mutations in connexin 26 that are observed in the clinic and give rise to autosomal dominant syndromes. They are the result of point mutations in the human gap junction β-2 gene. In order to investigate the structural mechanism of Bart-Pumphrey Syndrome, Keratitis-Ichthyosis-Deafness Syndrome, and Vohwinkel Syndrome, homology modeling was carried out. Asp66 ...
which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited. A B C Fig. 1. Pretreatment photograph. (A) Extensive absence of skin on the left lower extremity, (B) a ruptured blister on the right hand, and (C) nail deformity of the left great toe. Bart syndrome is a rare inherited disorder characterized by the localize...
A critical appraisal and clinical application of Bart BA, Goldsmith SR, Lee KL, et al. Ultrafiltration in decompensated heart failure with cardiorenal syndrome. N. Engl. J. Med. 2012;367:2296-2304. doi: 10.1056/NEJMoa1210357
Bart's syndrome, first described by Bart in 1966, consists of congenital localized absence of skin, congenital epidermolysis bullosa, and associated nail abnormalities. A newborn infant with Bart's syndrome is reported since it is a very rare condition, especially when associated with pyloric and concomitant choanal atresia. To the best of our knowledge, this is the first report presenting a ca...
Aplasia cutis congenita type VI, also known as Bart syndrome, is a rare genetic mechanobullous disorder characterized by congenital localized absence of skin, mucocutaneous blistering lesions, and nail abnormalities. We present the case of a 4-h-old male newborn who presented with complete absence of skin over the anteromedial aspect of both lower legs associated with nail dystrophy since birth...
Title: Small volume plasma exchange for Guillain-Barré syndrome in resource poor settings: a safety and feasibility study Authors: Md Badrul Islam ([email protected]) Zhahirul Islam ([email protected]) Shafiqur Rahman ([email protected]) Hubert Endtz ([email protected]) Margreet Vos ([email protected]) Mathieu der Jagt ([email protected]) Pieter van Doorn (p.a.v...
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