Results 91 to 100 of about 71,356 (167)

ST-segment elevation acute coronary syndrome in a child with Duchenne muscular dystrophy: a case report

open access: yesРоссийский кардиологический журнал
Introduction. Duchenne muscular dystrophy is an X-linked muscle disorder caused by the dystrophin absence. This leads to the death of muscle cells and cardiomyocytes and their subsequent replacement with adipose and fibrous tissue.
Z. G. Tatarintseva   +2 more
doaj   +1 more source

Fat Embolism Syndrome in Duchenne Muscular Dystrophy Patients: Early Recognition and Aggressive Therapy

open access: yesCase Reports in Critical Care, 2018
We describe two pediatric patients with Duchenne muscular dystrophy that presented with acute neurologic deterioration and hypoxic respiratory failure requiring mechanical ventilation.
Lee D. Murphy   +2 more
doaj   +1 more source

A Shape-Based Functional Index for Objective Assessment of Pediatric Motor Function [PDF]

open access: yesarXiv
Clinical assessments for neuromuscular disorders, such as Spinal Muscular Atrophy (SMA) and Duchenne Muscular Dystrophy (DMD), continue to rely on subjective measures to monitor treatment response and disease progression. We introduce a novel method using wearable sensors to objectively assess motor function during daily activities in 19 patients with ...
arxiv  

Preliminary design of a device to assist handwriting in children with movement disorders [PDF]

open access: yesarXiv, 2019
This paper presents the development of a new passive assistive handwriting device, which aims to stabilize the motion of people living with movement disorders. Many people living with conditions such as cerebral palsy, stroke, muscular dystrophy or dystonia experience upper limbs impairments (muscle spasticity, unselective motor control, muscle ...
arxiv  

Targeting RyR Activity Boosts Antisense Exon 44 and 45 Skipping in Human DMD Skeletal or Cardiac Muscle Culture Models

open access: yesMolecular Therapy: Nucleic Acids, 2019
Systemic delivery of antisense oligonucleotides (AO) for DMD exon skipping has proven effective for reframing DMD mRNA, rescuing dystrophin expression, and slowing disease progression in animal models.
Florian Barthélémy   +6 more
doaj  

Exosome-Mediated Benefits of Cell Therapy in Mouse and Human Models of Duchenne Muscular Dystrophy

open access: yesStem Cell Reports, 2018
Summary: Genetic deficiency of dystrophin leads to disability and premature death in Duchenne muscular dystrophy (DMD), affecting the heart as well as skeletal muscle.
Mark A. Aminzadeh   +15 more
doaj  

Muscular Dystrophy (Duchenne) in a Girl with Turner's Syndrome

open access: yesJournal of Medical Genetics, 1965
P. Ferrier, F. Bamatter, D. Klein
semanticscholar   +1 more source

Interpretation of "Diagnosis and management of Duchenne muscular dystrophy: a guide for families (2011 version)"

open access: yesChinese Journal of Contemporary Neurology and Neurosurgery, 2015
The guideline "Diagnosis and management of Duchenne muscular dystrophy" was supported by a 3-year-long project guided by US Centers for Disease Control and Prevention (CDC), in collaboration with patient advocacy groups [Muscular Dystrophy Association ...
Xi-hua LI
doaj  

Efficacy and safety of Viltepso® in Duchenne muscular dystrophy: review of clinical studies

open access: yesРусский журнал детской неврологии
The author presents a literature review on the safety and efficacy of antisense oligonucleotides in the treatment of Duchenne muscular dystrophy using the exon skipping method using Viltepso® (viltolarsen), the only drug of this class registered in ...
V. M. Suslov, D. I. Rudenko
doaj   +1 more source

Upper-body free-breathing Magnetic Resonance Fingerprinting applied to the quantification of water T1 and fat fraction [PDF]

open access: yesarXiv
Over the past decade, Magnetic Resonance Fingerprinting (MRF) has emerged as an efficient paradigm for the rapid and simultaneous quantification of multiple MRI parameters, including fat fraction (FF), water T1 ($T1_{H2O}$), water T2 ($T2_{H2O}$), and fat T1 ($T1_{fat}$).
arxiv  

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