نتایج جستجو برای: rallison syndrome
تعداد نتایج: 621917 فیلتر نتایج به سال:
Wolcott-Rallison syndrome (WRS) is a rare autosomal-recessive disorder characterized by the association of permanent neonatal or early-infancy insulin-dependent diabetes, multiple epiphyseal dysplasia and growth retardation, and other variable multisystemic clinical manifestations. Based on genetic studies of two inbred families, we previously identified the gene responsible for this disorder a...
Wolcott-Rallison syndrome (WRS) and the recently delineated microcephaly with simplified gyration, epilepsy, and permanent neonatal diabetes syndrome (MEDS) are clinically overlapping autosomal recessive disorders characterized by early onset diabetes, skeletal defects, and growth retardation. While liver and renal symptoms are more severe in WRS, neurodevelopmental characteristics are more pro...
Early-onset diabetes, liver dysfunction, growth retardation, spondyloepiphyseal dysplasia, and tendency to skeletal fractures due to osteopenia are characteristics of Wolcott-Rallison syndrome (WRS). Eukaryotic translation initiation factor 2α kinase (EIF2AK3) is the only known gene, which is responsible for this rare autosomal recessive disorder. Here, we report two siblings a girl and a boy w...
BACKGROUND Mucinases and sialidases contribute to the process of invasion and colonisation in many conditions and infections of the female reproductive tract by degrading the protective cervical mucus. The role of hydrolytic enzymes in the pathogenesis of sexually transmitted diseases and their effect on cervical mucus are discussed in this review. METHODS Articles were searched for using the...
* Corresponding Author : Dr Umang G Thakkar, MBBS, DCH. Associate Prof. in Department of Regenerative Medicine and stem cell therapy and paediatrics, G. R. Doshi and K.M. Mehta Institute of Kidney Diseases & Research Centre (IKDRC) Dr. H. L. Trivedi Institute Of Transplantation Sciences (ITS), Civil Hospital Campus, Asarwa, Ahmedabad 380016, Gujarat, India. Tel: +91 79 22685608, Tele-fax: +91 7...
Background Wolcott-Rallison syndrome (WRS) is caused by recessive EIF2AK3 gene mutations and characterized by permanent neonatal diabetes (PNDM), skeletal dysplasia, and recurrent hepatitis. The frequency of this rare syndrome is largely unknown. Objectives To define the frequency and spectrum of WRS in the Kingdom of Saudi Arabia (KSA) based on published data. Methods The Medline database was ...
for patient selection, procedural techniques, patient management and follow-up, definitions, endpoints, and research trial design. Europace 2012;14:528–606. 5. Duytschaever M, Mairesse G, Verbeet T, Knecht S. The right recommendations for the wrong reasons? Europace 2013;15:615–617. 6. Coseis Nielsen J, Raatikainen P, Hindricks G, Walfridsson H, Kongstad O, Pehrson S, Englund A, Hartikainen J, ...
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