A retrospective analysis of 237 Chinese families with Duchenne muscular dystrophy history and strategies of prenatal diagnosis

Journal of Clinical Laboratory Analysis, EarlyView.
Source: Journal of Clinical Laboratory Analysis - Category: Laboratory Medicine Source Type: research

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Publication date: Available online 17 January 2019Source: Respiratory Physiology &NeurobiologyAuthor(s): Lívia Cocato Luiz, Fernando Augusto Lima Marson, Celize Cruz Bresciani Almeida, Adyléia Aparecida Dalbo Contrera Toro, Anamarli Nucci, José Dirceu RibeiroAbstractIntroductionDuchenne muscular dystrophy(DMD) shows motor and respiratory impairment.Methods19 DMD patients(DMDG) (nine ambulatory and 10 non-ambulatory) were evaluated through motor function measure(MFM), 6-minute walk test(6MWT), respiratory muscle strength, cough peak flow, spirometry and volumetric capnography(VCap) tools. Control gr...
Source: Respiratory Physiology and Neurobiology - Category: Respiratory Medicine Source Type: research
Duchenne muscular dystrophy (DMD) is an X-linked disease characterized by skeletal muscle degeneration and a significant cardiomyopathy secondary to cardiomyocyte damage and myocardial loss. The molecular basis of DMD lies in the absence of the protein dystrophin, which plays critical roles in mechanical membrane integrity and protein localization at the sarcolemma. A popular mouse model of DMD is the mdx mouse, which lacks dystrophin and displays mild cardiac and skeletal pathology that can be exacerbated to advance the disease state.
Source: Journal of Molecular and Cellular Cardiology - Category: Cytology Authors: Source Type: research
Publication date: Available online 17 January 2019Source: Clinica Chimica ActaAuthor(s): Kuo Zhang, Xin Yang, Guigao Lin, Yanxi Han, Jinming LiAbstractDuchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD) are X-linked recessive, inherited neuromuscular disorders, caused by pathogenic variants in the dystrophin gene that encodes the dystrophin protein. A number of mutations have been identified in the past years, producing dystrophin diversity and resulting in mild to severe phenotypes in patients. Mutations in the dystrophin gene can be characterized by laboratory testing to confirm a clinical diagnosis of ...
Source: Clinica Chimica Acta - Category: Laboratory Medicine Source Type: research
New research, led by Harvard scientists, identifies a novel potential therapeutic target for treating amyotrophic lateral sclerosis (ALS).
Source: Health News from Medical News Today - Category: Consumer Health News Tags: Muscular Dystrophy / ALS Source Type: news
End-stage dilated cardiomyopathy (DCM) is the leading cause of morbidity and mortality in patients with Duchenne Muscular Dystrophy (DMD). No studies are available on the effect of ivabradine on long-term outcomes in end-stage DMD/DCM.
Source: International Journal of Cardiology - Category: Cardiology Authors: Source Type: research
We report that even before tumor formation, MuSCs exhibit increased self-renewal and an expression signature associated with RMSs. These cells can form tumorspheres in vitro and give rise to RMSs in vivo. Finally, we show that the inflammatory genes Ccl11 and Rgs5 are involved in RMS growth. Together, our results show that DMD severity drives MuSC-mediated RMS development.Graphical Abstract
Source: Cell Reports - Category: Cytology Source Type: research
This study evaluated the pharmacokinetics of ezutromid in patients with DMD who followed a balanced diet. This was a multicenter, double‐blind, placebo‐controlled, ascending single and multiple oral dose study. Twelve pediatric patients were randomly allocated to 1 of 3 treatment sequences within which were 3 treatment periods of 2 weeks each. Each patient received, in a dose‐escalating fashion, 1250 mg and 2500 mg twice daily (BID) of ezutromid administered orally as a microfluidized suspension (F3) with placebo in the other treatment period. Throughout the study, patients followed a balanced diet including recommen...
Source: Clinical Pharmacology in Drug Development - Category: Drugs & Pharmacology Authors: Tags: Original Manuscript Source Type: research
People with Duchenne muscular dystrophy (DMD) can develop an otherwise-rare muscle cancer, called rhabdomyosarcoma, due to the muscle cells' continuous work to rebuild the damaged tissue. However, little is known about how the cancer arises, hindering development of a treatment or test that could predict cancer risk.
Source: World Pharma News - Category: Pharmaceuticals Tags: Featured Research Research and Development Source Type: news
DUX4 is a transcription factor whose misexpression in skeletal muscle causes facioscapulohumeral muscular dystrophy (FSHD). While DUX4's transcriptional activity has been extensively characterized, the DUX4-induced proteome remains undescribed. Here, we report concurrent measurement of RNA and protein levels in DUX4-expressing cells via RNA-seq and quantitative mass spectrometry. DUX4 transcriptional targets were robustly translated, confirming the likely clinical relevance of proposed FSHD biomarkers. However, a multitude of mRNAs and proteins exhibited discordant expression changes upon DUX4 expression. Our dataset revea...
Source: eLife - Category: Biomedical Science Tags: Genetics and Genomics Human Biology and Medicine Source Type: research
Cognitive deficit has been identified in one third of patients affected by Duchenne Muscular Dystrophy, primarily attributed to loss of the short Dp71 dystrophin, the major brain dystrophin isoform. In this st...
Source: Stem Cell Research and Therapy - Category: Stem Cells Authors: Tags: Short report Source Type: research
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