نتایج جستجو برای: diamond syndrome
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Shwachman-Diamond syndrome (SDS) is a rare autosomal recessive disorder characterized by exocrine pancreatic insufficiency, bone marrow dysfunction, and skeletal abnormalities. The Shwachman-Bodian-Diamond syndrome (SBDS) gene was identified as a causative gene for SDS in 2003, and genetic analyses of SDS have been performed. Over the last 4 years, a number of different mutations affecting the ...
Recent advances resulting from the identification of the genes responsible for four inherited marrow failure syndromes, Fanconi anemia, dyskeratosis congenita, Diamond-Blackfan anemia, and Shwachman-Diamond syndrome, are reviewed. The interpretation of genetic testing should be guided by an understanding of the limitations of such testing for each disorder. The possibility of an inherited basis...
Autoerythrocyte sensitization syndrome (ASS)—also known as Gardner-Diamond syndrome—is an autoimmune vasculopathy associated with sensitization to phosphatidylserine, a phosphoglyceride of red blood cell membranes [1]. The syndrome was first described in 1955 by Gardner and Diamond in 4 female patients [2]. ASS is typically seen in adult females; however, pediatric and male patients have also b...
Gardner-Diamond syndrome, which also is knownas autoerythrocyte sensitization disorder, is a raresyndrome of inflammatory, edematous papulesthat evolve into painful ecchymoses on the trunkand lower legs after a period of stress with no priorhistory of trauma. This syndrome usually occurs inwomen with a history of psychiatric disorders, themost common one being depression. Although theexact mech...
BACKGROUND Patients with the Shwachman-Diamond syndrome often develop hematologic complications. No risk factors for these complications have so far been identified. The aim of this study was to classify the hematologic complications occurring in patients with Shwachman-Diamond syndrome and to investigate the risk factors for these complications. DESIGN AND METHODS One hundred and two patient...
Hanane ATARGUINE , MD, OuafaHOCAR,MD, PhD, Nadia AKHDARI ,MD, PhD, Said AMAL,MD, PhD Department of Dermatology, ArraziHospital , CHU MohamedVI, Marrakech. Faculty of Medicineand Pharmacy-Cadi AyyadUniversityMarrakech _ _______________________________________________________________________________ ABSTRACT Gardner-Diamond syndrome also known as auto erythrocyte sensitization syndrome is an e...
The inherited bone marrow failure syndromes are traditionally considered to be pediatric disorders, but in fact, many of the patients now are diagnosed as adults, and many diagnosed as children now live to reach adulthood. The most common of these rare disorders include Fanconi anemia, dyskeratosis congenita, Shwachman-Diamond syndrome and amegakaryocytic thrombocytopenia, which often develop a...
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