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

Related Links:

Publication date: September 2018Source: Archives of Cardiovascular Diseases Supplements, Volume 10, Issues 3–4Author(s): Pascal Amedro, Marie Vincenti, Grégoire De La Villeon, Kathleen Lavastre, Catherine Barrea, Sophie Guillaumont, Charlene Bredy, Lucie Gamon, Albano C. Meli, Olivier Cazorla, Jeremy Fauconnier, Pierre Meyer, François Rivier, Jerome Adda, Thibault Mura, Alain LacampagneBackgroundPrognosis of Duchenne muscular dystrophy (DMD) is related to cardiac dysfunction, occurring in the second decade. The prevention of cardiomyopathy stands as one of the most challenging clinical research issues i...
Source: Archives of Cardiovascular Diseases Supplements - Category: Cardiology Source Type: research
AbstractThree-dimensional (3D) speckle-tracking echocardiography (STE) is a new imaging modality used for quantitative analysis of left ventricular (LV) function. The aim of this study is to assess the value of 3D STE in early detection of subclinical myocardial involvement in children with Duchenne muscular dystrophy (DMD). Fifty-six children with DMD (mean age, 8.8  ± 1.9 years) and 31 age-matched control subjects were studied. Patients were subdivided into two groups by age: ≤ 8 or>  8 years. Standard echocardiography examinations were performed to measure LV size and e...
Source: The International Journal of Cardiovascular Imaging - Category: Radiology Source Type: research
This 70 year old man in routine check up showed up this ECG. What is it ? a  quick debate ensued ! Is this RVH RBBB Or Both ? Neither RBBB nor RVH Wrong lead placement Is it a normal ECG after all ? I thought it was RVH. (do considered RBBB) but since lead V 2 showed tall R , I was more than sure RVH was likely . Many voted for RBBB. .Some others said RBBB can never occur in monophasic form.I said it’s possible. Some body challenged me without Echo Imaging a  monophasic RBBB can never be differentiated from RVH. After a mini argument I reluctantly agreed.Yes, it seemed there is no way to differentia...
Source: Dr.S.Venkatesan MD - Category: Cardiology Authors: Tags: cardiology -ECG RBBB vs RVH how to diagnose RBBB in RVH and vice versa rvh in rbbb tall r in v1 differential diagnosis Source Type: blogs
Mark McQuain has raised the persistent, vexing issue of the pricing of drugs for rare diseases—in the case at hand, Sarepta’s eteplirsen (Exondys 51) for Duchenne Muscular Dystrophy, the disease over which the late comedian Jerry Lewis lost sleep every Labor Day weekend for years. Mark provided an excellent summary (he calls it “crude,” but … Continue reading "Mumbling orphans—a bit more"
Source: blog.bioethics.net - Category: Medical Ethics Authors: Tags: Health Care Allocation / Access / Public Health biotechnology Health Care Practice syndicated Source Type: blogs
Fukuyama congenital muscular dystrophy (FCMD), an autosomal recessive disorder characterized by the combination of severe muscular dystrophy and dysgenesis of the eye and central nervous system which causes intellectual deficits and epilepsy, was first reported by Fukuyama et  al. in 1960 [1, 2]. FCMD is the second most prevalent of the Japanese childhood-onset muscular dystrophies after Duchenne muscular dystrophy (DMD), but it is rarely reported outside of Japan. The annual incidence was previously reported to be 2.9 per 100,000 live births [3, 4].
Source: Neuromuscular Disorders - Category: Neurology Authors: Source Type: research
Duchenne muscular dystrophy (DMD) is an X-linked progressive myopathy due to mutations in the dystrophin gene, affecting one in every 3 ’600–10’000 live male births [1,2]. Boys with DMD typically present with delayed motor milestones and muscle weakness, they progress to loss of ambulation around their teens, and respiratory and heart failure during the second decade. Corticosteroids remain the standard supportive therapy for DMD even though new treatments recently emerged [3–6]. Along with other risk factors that are present in DMD such as progressive weakness, immobility and delayed puberty, chron...
Source: Neuromuscular Disorders - Category: Neurology Authors: Tags: Case report Source Type: research
Authors: Angelini C, Giaretta L, Marozzo R Abstract INTRODUCTION: Limb Girdle Muscular Dystrophies (LGMD) encompasses a clinically heterogeneous group of rare, genetic progressive muscle disorders presenting with weakness and atrophy of predominant pelvic and shoulder muscles. The spectrum of disease severity ranges from severe childhood-onset muscular dystrophy to adult-onset dystrophy. Areas covered: The review presents an update of the clinical phenotypes and diagnostic options for LGMD including both dominant and recessive LGMD and consider their differential clinical and histopathological features. An overview of...
Source: Expert Review of Neurotherapeutics - Category: Neurology Tags: Expert Rev Neurother Source Type: research
By Mark McQuain In my previous blog entry, I crudely summarized the genetic basis for Duchenne Muscular Dystrophy (DMD) and one pharmaceutical company’s (Sarepta) current effort to research, manufacture and finance a genetic treatment that increases the production of a muscle protein missing in patients with DMD called dystrophin. Please see my previous blog entry … Continue reading "The Cost of Getting RNA to Mumble"
Source: blog.bioethics.net - Category: Medical Ethics Authors: Tags: Health Care Allocation / Access / Public Health bioethics biotechnology Health Care Practice syndicated Source Type: blogs
ACS Medicinal Chemistry LettersDOI: 10.1021/acsmedchemlett.8b00287
Source: ACS Medicinal Chemistry Letters - Category: Chemistry Authors: Source Type: research
ConclusionThe CRISPR/Cas9 gene editing tool is a powerful arsenal in the field of gene therapy and molecular medicine; hence, more research should be called to focus on the ample potential this tool has to offer in the field of neurodegenerative diseases.
Source: Neurological Sciences - Category: Neurology Source Type: research
More News: China Health | Laboratory Medicine | Muscular Dystrophy | Reflex Sympathetic Dystrophy