نتایج جستجو برای: dmd

تعداد نتایج: 4377  

Journal: :Neurologia 2017
I Vieitez P Gallano L González-Quereda S Borrego I Marcos J M Millán T Jairo C Prior J Molano M J Trujillo-Tiebas J Gallego-Merlo M García-Barcina M Fenollar C Navarro

INTRODUCTION Duchenne muscular dystrophy (DMD) is a severe X-linked recessive neuromuscular disease that affects one in 3500 live-born males. The total absence of dystrophin observed in DMD patients is generally caused by mutations that disrupt the reading frame of the DMD gene, and about 80% of cases harbour deletions or duplications of one or more exons. METHODS We reviewed 284 cases of mal...

2014
Lijun Tian Junhua Cao Xingqiang Deng Chuanling Zhang Tong Qian Xianxiang Song Baoshan Huang

BACKGROUND Gene expression analysis is powerful for investigating the underlying mechanisms of Duchenne muscular dystrophy (DMD). Previous studies mainly neglected co-expression or transcription factor (TF) information. Here we integrated TF information into differential co-expression analysis (DCEA) to explore new understandings of DMD pathogenesis. METHODS Using two microarray datasets from...

2017
Peiqing Chen Yanan Zhu Ke Yao

BACKGROUND Femtosecond laser-assisted cataract surgery (FLACS) has grown in popularity among ophthalmologists as a novel technique. However, descemet membrane detachment (DMD) began to be found as the complication after FLACS. We report a case of serious DMD following FLACS due to the inappropriate incision design. CASE PRESENTATION An 85-year-old man with apparent cornea arcus senilis underw...

Journal: :Proceedings of the National Academy of Sciences of the United States of America 2015
Yetrib Hathout Edward Brody Paula R Clemens Linda Cripe Robert Kirk DeLisle Pat Furlong Heather Gordish-Dressman Lauren Hache Erik Henricson Eric P Hoffman Yvonne Monique Kobayashi Angela Lorts Jean K Mah Craig McDonald Bob Mehler Sally Nelson Malti Nikrad Britta Singer Fintan Steele David Sterling H Lee Sweeney Steve Williams Larry Gold

Serum biomarkers in Duchenne muscular dystrophy (DMD) may provide deeper insights into disease pathogenesis, suggest new therapeutic approaches, serve as acute read-outs of drug effects, and be useful as surrogate outcome measures to predict later clinical benefit. In this study a large-scale biomarker discovery was performed on serum samples from patients with DMD and age-matched healthy volun...

2012
Jerry R. Mendell Nancy D. Leslie Kevin M. Flanigan Julie Gastier-Foster Diane M. Dunn Brett Duval Cindy Hamil Kandice Roush

Objective: Creatine kinase (CK) levels are increased on dried blood spots in newborns related to the birthing process. As a marker for newborn screening, CK in Duchenne muscular dystrophy (DMD) results in false-positive testing. In this report, we introduce a 2-tier system using the dried blood spot to first assess CK with follow-up DMD gene testing. Methods: A fluorometric assay based upon the...

2016
Shouta Miyatake Yuko Shimizu-Motohashi Shin’ichi Takeda Yoshitsugu Aoki

Duchenne muscular dystrophy (DMD), an incurable and a progressive muscle wasting disease, is caused by the absence of dystrophin protein, leading to recurrent muscle fiber damage during contraction. The inflammatory response to fiber damage is a compelling candidate mechanism for disease exacerbation. The only established pharmacological treatment for DMD is corticosteroids to suppress muscle i...

Journal: :Journal of applied physiology 2014
Lilian Lacourpaille François Hug Arnaud Guével Yann Péréon Armelle Magot Jean-Yves Hogrel Antoine Nordez

The decrease in muscle strength in patients with Duchenne muscular dystrophy (DMD) is mainly explained by a decrease in the number of active contractile elements. Nevertheless, it is possible that other electrochemical and force transmission processes may contribute. The present study aimed to quantify the effect of DMD on the relative contribution of electrochemical and force transmission comp...

Journal: :Japanese journal of medicine 1989
M Uchino S Araki T Miike

We studied total SDS-solubilized muscle proteins (TMP) of Duchenne muscular dystrophy (DMD) and other neuromuscular disorders, with special attention to the change of dystrophin suspected of being the product of DMD locus. SDS gel electrophoresis of DMD patients showed an absence of band 5 and an extreme faintness of band 2 with a decrease of band 4', 5', and 5''. Immunoblot analysis, using ant...

Journal: :Epigenomics 2016
Mark M Perry Francesco Muntoni

Noncoding RNAs (ncRNAs) such as miRNAs and long noncoding RNAs modulate gene transcription in response to environmental stressors and other stimuli. A role for ncRNAs in muscle pathologies has been demonstrated and further evidence suggests that ncRNAs also play a role in Duchenne muscular dystrophy (DMD). Studies investigating the differential expression of miRNAs in biological fluids between ...

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