نتایج جستجو برای: congenital disorders

تعداد نتایج: 776325  

Journal: :The Japanese Journal of Nutrition and Dietetics 1985

Journal: :Neuromuscular disorders : NMD 2004
Francesco Muntoni Thomas Voit

The congenital muscular dystrophies are a heterogeneous group of inherited disorders. The clinical features range from severe and often early fatal disorders to relatively mild conditions compatible with survival into adult life. The recent advances in the genetic basis of congenital muscular dystrophies have allowed to significantly improve our understanding of their pathogenesis and clinical ...

تقی پور, مهرداد, فرهادی, رویا, مختاری اسبوئی, فرزاد, کریمی نسب, محمدحسین,

Congenital dislocation of the knee (CDK) is a rare congenital anomaly and the incidence of the CDK is estimated as 1 per 100,000 births. Diagnosis is made through clinical inspection and X-ray radiography. Our patient is a newborn male with congenital dislocation of the left knee. After diagnosis, the knee was reduced successfully within 24 hours of birth and then serial casting was performed. ...

Farshad Moghaddam, Hossein, Ghahvechi, Masoud, Gharib, Behdad, Gorji, Mojtaba, Memarian, Sara, Mohsenipour, Reihaneh, Rahmani, Parisa, Saidi, Maryam, Shervin Badv, Reza, Yarali, Bahram,

Congenital Myasthenic Syndromes (CMS) are rare inherited disorders characterized by dysfunction of neuromuscular transmission at the neuromuscular junction. Most patients with congenital myasthenic syndromes present in the infancy. Major symptoms of affected individuals include weakness and fatigue during the first years of life. Patients may show hypotonia, facial weakness, swallowing difficul...

Journal: :Saudi medical journal 2010
Enas T Abdul-Karim Saad F Mohammed

OBJECTIVE To study the clinical characteristic, presentation, complications in patients with congenital coagulation disorders who attended the Congenital Coagulation Disorders Center, Baghdad, Iraq. METHODS This cross-sectional study was conducted in the Center of Congenital Coagulation Disorders, Al-Mansour Pediatric Teaching Hospital, Baghdad, Iraq between March 2008 and August 2008. The sa...

2017
Denise Cassandrini Rosanna Trovato Anna Rubegni Sara Lenzi Chiara Fiorillo Jacopo Baldacci Carlo Minetti Guja Astrea Claudio Bruno Filippo M. Santorelli Angela Berardinelli Enrico S. Bertini Giacomo Comi Adele D’Amico Maria Alice Donati Maria Teresa Dotti Fabiana Fattori Marina Grandis Lorenzo Maggi Francesca Magri Maria A. Maioli Alessandro Malandrini Francesco Mari Roberto Massa Eugenio Mercuri Luciano Merlini Maurizio Moggio Marina Mora Lucia O. Morandi Olimpia Musumeci Vincenzo Nigro Marika Pane Elena Pegoraro Elena M. Pennisi Lorenzo Peverelli Giulia Ricci Carmelo Rodolico Lucia Ruggiero Michele Sacchini Lucio Santoro Marco Savarese Gabriele Siciliano Alessandro Simonati Paola Tonin Antonio Toscano

Congenital myopathies are a group of genetic muscle disorders characterized clinically by hypotonia and weakness, usually from birth, and a static or slowly progressive clinical course. Historically, congenital myopathies have been classified on the basis of major morphological features seen on muscle biopsy. However, different genes have now been identified as associated with the various pheno...

Journal: :بینا 0
احمدعلی فردوسی aa ferdosi تهران - پاسداران- بوستان 9 - بیمارستان لبافی نژاد- مرکز تحقیقات چشم ژاله رجوی zh rajavi تهران - پاسداران- بوستان 9 - بیمارستان لبافی نژاد- مرکز تحقیقات چشم محمد صادقی m sadeghi دانشگاه علوم پزشکی تهران بهارک گلستانه b golestaneh دانشگاه علوم پزشکی شهید بهشتی مهدی یاسری m yaseri دانشگاه علوم پزشکی شهید بهشتی

purpose: to determine the frequency of otolaryngological disorders in patients with congenital nasolacrimal duct obstruction (cnldo) as compared to controls. methods: in this case-control study, 80 children with cnldo (cases) and 80 children without cnldo (controls) were examined for ophthalmological and otolaryngological dosirders. data analysis was performed using pearson chi-square and fishe...

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