نتایج جستجو برای: canada syndrome

تعداد نتایج: 690784  

پایان نامه :وزارت علوم، تحقیقات و فناوری - دانشگاه شهید چمران اهواز - دانشکده علوم 1394

مقدمه. سندرم زجرتنفسی نوزادان (infant respiratory distress syndrome) ، یک بیماری حاد ریوی است که معمولا نوزادان نارس به آن مبتلا می شوند. در این بیماری، ریه نابالغ و غیر عملکردی است. در واقع نقص در سورفاکتانت باعث ایجاد این بیماری می شود. سورفاکتانت باعث کاهش کشش سطحی آلوئول ها می شود و در نتیجه از کلاپس و بسته شدنشان جلوگیری می کند. پروتئین abca3 ترنسپورتر لیپیدهای سورفاکتانت، نقش بسیار مهمی د...

Journal: :Paediatrics & child health 2008
Miriam Santschi Claude Lemoine Claude Cyr

BACKGROUND Seat belts have been proven to save lives. However, if they are not properly fitted, 'seat belt syndrome' can occur. The aim of the present study was to describe injuries encountered in Canadian children with seat belt-associated injuries. METHODS Canadian paediatricians and paediatric subspecialists were surveyed monthly through the Canadian Paediatric Surveillance Program. Childr...

Journal: :American journal of human genetics 2015
Kevin A Strauss Robert N Jinks Erik G Puffenberger Sundararajan Venkatesh Kamalendra Singh Iteen Cheng Natalie Mikita Jayapalraja Thilagavathi Jae Lee Stefan Sarafianos Abigail Benkert Alanna Koehler Anni Zhu Victoria Trovillion Madeleine McGlincy Thierry Morlet Matthew Deardorff A Micheil Innes Chitra Prasad Albert E Chudley Irene Nga Wing Lee Carolyn K Suzuki

CODAS syndrome is a multi-system developmental disorder characterized by cerebral, ocular, dental, auricular, and skeletal anomalies. Using whole-exome and Sanger sequencing, we identified four LONP1 mutations inherited as homozygous or compound-heterozygous combinations among ten individuals with CODAS syndrome. The individuals come from three different ancestral backgrounds (Amish-Swiss from ...

Journal: :Neuropediatrics 1993
E Hauser R Bittner C Liegl G Bernert J Zeitlhofer

We report on two siblings, a boy and a girl, with agenesis of corpus callosum and neuronopathy. The children show diffuse hypotonia, delayed motor and mental development. Neurophysiological examinations revealed reduction of the motor nerve conduction velocity, absence of sensory nerve action potentials, abnormal somatosensory and visual evoked potentials. Nerve biopsies showed reduced density ...

Journal: :Journal of medical genetics 1998
P M Czarnecki D L Van Dyke S Vats G L Feldman

geal atresia" and renal agenesis and renal dysplasia with von Maeyer-RokitanskiKuster complex.'4 As yet, there is no consistent detectable chromosomal or metabolic cause of the 3C syndrome, including the 22ql 1.2 deletion discussed here. In the 16 families known to have children with the 3C syndrome, four males and 14 females, two had two affected daughters, three are related, and five belong t...

2017
Grace Xu Byron H. Gottschalk Umut Kocabaş Adrian Baranchuk

Address for Correspondence: Dr. Grace Xu, Department of Medicine, Queen’s University School of Medicine, Kingston, Canada Phone: 647 234 6926 e-mail: [email protected] Received: 31 May 2017 Accepted: 15 September 2017 • DOI: 10.4274/balkanmedj.2017.0621 Available at www.balkanmedicaljournal.org Cite this article as: Xu G, Gottschalk BH, Kocabaş U, Baranchuk A. Not All Brugada Electrocardiogram P...

2015
Edgard Delvin Natasha Patey Josée Dubois Melanie Henderson Émile Lévy

Edgard Delvin CHU Sainte-Justine Research Center, 3175 Côte Ste-Catherine, Montreal, Quebec, Canada, H3T 1C5 e-mail: delvineasympatico.ca. Tel: (450) 681-1715 Summary: The rapidly increasing prevalence of childhood obesity and its associated co-morbidities such as hypertriglyceridemia, hyper-insulinemia, hypertension, early atherosclerosis, metabolic syndrome, and non-alcoholic fatty liver dise...

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