نتایج جستجو برای: dmd

تعداد نتایج: 4377  

Journal: :Veterinary ophthalmology 2015
Màrian Matas Riera David Donaldson Simon Lawrence Priestnall

The aim of this article was to describe Descemet's membrane detachment (DMD) following phacoemulsification in five equine eyes and to review the human literature on this topic. In the last decade, there has been increased reporting of DMD in the human literature, in particular following cataract surgery. The natural history of DMD remains unknown and although various medical and surgical treatm...

2016
Hong-Hao Yu Heng Zhao Yu-Bo Qing Wei-Rong Pan Bao-Yu Jia Hong-Ye Zhao Xing-Xu Huang Hong-Jiang Wei

Dystrophinopathy, including Duchenne muscle dystrophy (DMD) and Becker muscle dystrophy (BMD) is an incurable X-linked hereditary muscle dystrophy caused by a mutation in the DMD gene in coding dystrophin. Advances in further understanding DMD/BMD for therapy are expected. Studies on mdx mice and dogs with muscle dystrophy provide limited insight into DMD disease mechanisms and therapeutic test...

2014
LORENZA MAGLIANO MARIA GRAZIA D'ANGELO GIUSEPPE VITA MARIKA PANE ADELE D'AMICO UMBERTO BALOTTIN CORRADO ANGELINI ROBERTA BATTINI LUISA POLITANO MELANIA PATALANO ALESSANDRA SAGLIOCCHI FEDERICA CIVATI ERIKA BRIGHINA GIAN LUCA VITA SONIA MESSINA MARIA SFRAMELI MARIA ELENA LOMBARDO ROBERTA SCALISE GIULIA COLIA MARIA CATTERUCCIA ANGELA BERARDINELLI MARIA CHIARA MOTTA ALESSANDRA GAIANI CLAUDIO SEMPLICINI LUCA BELLO GUJA ASTREA ANTONELLA ZACCARO MARIANNA SCUTIFERO

This study explored the burden in parents and healthy siblings of 4-17 year-old patients with Duchenne (DMD) and Becker (BMD) muscular dystrophies, and whether the burden varied according to clinical aspects and social resources. Data on socio-demographic characteristics, patient's clinical history, parent and healthy children burden, and on parent's social resources were collected using self-r...

Journal: :Neuromuscular Disorders 2021

Duchenne muscular dystrophy (DMD) is a rapidly progressive X-linked disorder characterized by muscle weakening responsible for the loss of ambulation around age 12. One if limiting factor clinical development sensitivity and reliability current outcomes. Recently, 95th centile stride velocity (SV95C) was qualified European medicines agency as valid secondary outcome trials in subjects with DMD....

Journal: :Neuromuscular Disorders 2020

Journal: :Journal of Nonlinear Science 2021

Dynamic mode decomposition (DMD) has become synonymous with the Koopman operator, where continuous time dynamics are discretized and examined using (i.e. composition) operators. Using newly introduced “occupation kernels,” present manuscript develops an approach to DMD that treats directly through Liouville operator. This outlines technical theoretical differences between Koopman-based for disc...

Journal: :genetics in the 3rd millennium 0
محمد تقی اکبری mohammad taghi akbari no.98, akbari medical genetics laboratory, taleghani street, tehran, iranآزمایشگاه ژنتیک پزشکی دکتر اکبری، خیابان طالقانی، شماره 98، تهران، ایران./ تلفن: 8896868 شهره زارع کاریزی shohreh zare karizi akbari medical genetics laboratory, tehran, iran1- آزمایشگاه ژنتیک پزشکی دکتر اکبری، تهران، ایران شهریار نفیسی shahriai nafisi department of neurology, tehran university of medical science, tehran, iranبخش مغز و اعصاب، دانشگاه علوم پزشکی تهران، تهران، ایران زهرا بهمنی zahra bahmani akbari medical genetics laboratory, tehran, iran1- آزمایشگاه ژنتیک پزشکی دکتر اکبری، تهران، ایران

duchene and becker muscular dystrophy (dmd and bmd) are x-linked conditions that result from a defect in the dystrophin gene located on xp21. dmd is the most frequent neuromuscular disease in humans (1/3500 male newborns). in approximately 65% of dmd and bmd patients, deletions in the dystrophin gene have been identified as the molecular determinant. population-based variations in frequency and...

2011
Janaka Wansapura Kan Hor Wojciech Mazur Robert Fleck Michael Taylor D Woodrow Benson William Gottliebson

Background Duchenne Muscular Dystrophy (DMD), a lethal X-linked skeletal and cardiac myopathy, affects 1/3500 males[1-2]. MRI studies have shown occult ventricular dysfunction and myocardial fibrosis in DMD patients. Previously we used the Full Width of Half Maximum (FWHM) of T2 distribution in LV to quantify the myocardial structural heterogeneity in DMD patients. In DMD subject groups, we sho...

2017
Michael Munsell Molly Frean Joseph Menzin Amy L Phillips

OBJECTIVE As the multiple sclerosis (MS) disease-modifying drug (DMD) treatment options have expanded to include oral therapies, it is important to understand whether route of administration is associated with DMD adherence. The objective of this study was to compare adherence to DMDs in patients with MS newly initiating treatment with a self-injectable versus an oral DMD. METHODS This retros...

2014
Chen Chen Hongwei Ma Feng Zhang Lu Chen Xuesha Xing Shusen Wang Xue Zhang Yang Luo Maurilio Sampaolesi

Duchenne muscular dystrophy (DMD) is a common X-linked recessive disease of muscle degeneration and death. In order to provide accurate and reliable genetic counseling and prenatal diagnosis, we screened DMD mutations in a cohort of 119 Chinese patients using multiplex ligation-dependent probe amplification (MLPA) and denaturing high performance liquid chromatography (DHPLC) followed by Sanger ...

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