12,684 results match your criteria Becker Muscular Dystrophy

Persistent NF-κB activation in muscle stem cells induces proliferation-independent telomere shortening.

Cell Rep 2021 May;35(6):109098

Department of Orthopaedic Surgery, Perelman School of Medicine, The University of Pennsylvania, Philadelphia, PA 19104, USA; Department of Cell and Developmental Biology, Perelman School of Medicine, The University of Pennsylvania, Philadelphia, PA 19104, USA; Institute of Regenerative Medicine, Musculoskeletal Regeneration Program, Perelman School of Medicine, The University of Pennsylvania, Philadelphia, PA 19104, USA. Electronic address:

During the repeated cycles of damage and repair in many muscle disorders, including Duchenne muscular dystrophy (DMD), the muscle stem cell (MuSC) pool becomes less efficient at responding to and repairing damage. The underlying mechanism of such stem cell dysfunction is not fully known. Here, we demonstrate that the distinct early telomere shortening of diseased MuSCs in both mice and young DMD patients is associated with aberrant NF-κB activation. Read More

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Mechanics of dystrophin deficient skeletal muscles in very young mice and effects of age.

Am J Physiol Cell Physiol 2021 May 12. Epub 2021 May 12.

Department of Medicine, Baylor College of Medicine, Houston, Texas, 77030, United Statesgrid.39382.33.

The MDX mouse is an animal model of Duchenne muscular dystrophy, a human disease marked by an absence of the cytoskeletal protein, dystrophin. We hypothesized that (1) dystrophin serves a complex mechanical role in skeletal muscles by contributing to passive compliance, viscoelastic properties, and contractile force production and (2) age is a modulator of passive mechanics of skeletal muscles of the MDX mouse. Using an in vitro biaxial mechanical testing apparatus, we measured passive length-tension relationships in the muscle fiber direction as well as transverse to the fibers, viscoelastic stress-relaxation curves, and isometric contractile properties. Read More

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Loss of dystrophin expression in skeletal muscle is associated with senescence of macrophages and endothelial cells.

Am J Physiol Cell Physiol 2021 May 12. Epub 2021 May 12.

Department of Applied Human Sciences, University of Prince Edward Island, Charlottetown, Prince Edward Island, Canadagrid.139596.1.

Cellular senescence is the irreversible arrest of normally dividing cells and is driven by cell cycle inhibitory proteins such as p16, p21 and p53. When cells enter senescence, they secrete a host of proinflammatory factors known as the senescence associated secretory phenotype which has deleterious effects on surrounding cells and tissues. Little is known of the role of senescence in Duchenne Muscular Dystrophy (DMD), the fatal X-linked neuromuscular disorder typified by chronic inflammation, extracellular matrix remodeling and a progressive loss in muscle mass and function. Read More

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Spanish translation and linguistic validation of the North Star Ambulatory Assessment for Duchenne muscular dystrophy functional evaluation.

Rev Neurol 2021 May;72(10):337-342

Universitat Pompeu Fabra, Barcelona, España.

Introduction: There is a need for reliable and properly validated outcome measures in Duchenne muscular dystrophy, both to monitor functional impairment and to assess the impact of new therapies.

Objective: We aimed to perform a translation of the North Star Ambulatory Assessment scale into Spanish and a linguistic validation of the resulting Spanish version.

Materials And Methods: A structured multistage process based on international guidelines was used, with the following steps: translation (preparation, forward translation, reconciliation, back translation, back translation review, clinicians' review), linguistic validation though pilot testing (cognitive interviewing, medical review, review of results and final changes), and finalization (proofreading, final report). Read More

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WGS and RNA Studies Diagnose Noncoding Variants in Males With High Creatine Kinase.

Neurol Genet 2021 Feb 29;7(1):e554. Epub 2021 Jan 29.

Kids Neuroscience Centre (L.B.W., S.J.B., A.B., F.J.E., H.J., S.A.S., G.L.O., E.C.O., N.F.C., K.J.J., S.T.C.), Kids Research Institute, The Children's Hospital at Westmead, New South Wales, Australia; Discipline of Child and Adolescent Health (L.B.W., S.J.B., A.B., F.J.E., S.A.S., G.L.O., E.C.O., N.F.C., K.J.J., S.T.C.), Faculty of Medicine and Health, The University of Sydney, Westmead, New South Wales, Australia; Analytic and Translational Genetics Unit (B.B.C., J.L.M., T.T., E.V., D.G.M., M.L.), Massachusetts General Hospital, Boston; Medical and Population Genetics (B.B.C., J.L.M., T.T., E.V., B.W., S.S., D.G.M., M.L.), and Center for Mendelian Genomics (B.B.C., J.L.M., E.V., B.W., S.S., D.G.M., M.L.), Broad Institute of MIT & Harvard, Cambridge, MA; Functional Neuromics (F.J.E., S.T.C.), Children's Medical Research Institute, Westmead, New South Wales, Australia; Murdoch Children's Research Institute (S.S.), Parkville, Victoria, Australia; Department of Diagnostic Genomics (M.R.D., F.F., R.G.), PathWest Laboratory Medicine WA, Nedlands, Australia; Department of Clinical Genetics (S.A.S., A.M., K.J.J.), Children's Hospital at Westmead, New South Wales, Australia; Department of Genetic Medicine (M.C.T.), Westmead Hospital, New South Wales, Australia; Discipline of Genomic Medicine (M.C.T., A.M.), Sydney Medical School, The University of Sydney, New South Wales, Australia; Centre for Clinical Genetics (D.R.M.), Sydney Children's Hospital, Randwick, New South Wales, Australia; School of Women's and Children's Health (D.R.M., M.A.F.), UNSW Medicine, UNSW Sydney, Australia; Department of Neurology (M.A.F., H.S.), Sydney Children's Hospital, Randwick, New South Wales, Australia; Department of Clinical Genetics (A.M.), Nepean Hospital, Sydney, Australia; Genetic Health Service NZ (K.N.), Wellington, New Zealand; Neurology Laboratory (M.-X.W.), Royal Prince Alfred Hospital, Camperdown, New South Wales, Australia; Central Clinical School (M.-X.W.), Faculty of Medicine and Health, The University of Sydney, Camperdown, New South Wales, Australia; Anatomic Pathology (A.C., C.C., N.G., S.A.), The Children's Hospital at Westmead, New South Wales, Australia; Anatomic Pathologist (D.N.K.), Department of Pathology and Molecular Medicine, University of Otago, Wellington, New Zealand; and Harvard Medical School (D.G.M.), Boston, MA.

Objective: To describe the diagnostic utility of whole-genome sequencing and RNA studies in boys with suspected dystrophinopathy, for whom multiplex ligation-dependent probe amplification and exomic parallel sequencing failed to yield a genetic diagnosis, and to use remnant normal splicing in 3 families to define critical levels of wild-type dystrophin bridging clinical spectrums of Duchenne to myalgia.

Methods: Exome, genome, and/or muscle RNA sequencing was performed for 7 males with elevated creatine kinase. PCR of muscle-derived complementary DNA (cDNA) studied consequences for premessenger RNA (pre-mRNA) splicing. Read More

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February 2021

Voluntary and magnetically evoked muscle contraction protocol in males with Duchenne muscular dystrophy: safety, feasibility, reliability, and validity.

Muscle Nerve 2021 May 11. Epub 2021 May 11.

Division of Rehabilitation Science, Department of Rehabilitation Medicine, Medical School-University of Minnesota, Minneapolis, MN.

Introduction: Clinical trials addressing treatments for Duchenne muscular dystrophy (DMD) require reliable and valid measurement of muscle contractile function across all disease severity levels. This work aimed to evaluate a protocol combining voluntary and evoked contractions to measure strength and excitability of wrist extensor muscles, for safety, feasibility, reliability, and discriminant validity between males with DMD and controls.

Methods: Wrist extensor muscle strength and excitability were assessed in males with DMD (N=10; mean 15. Read More

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[Carrier screening model for Duchenne muscular dystrophy for women of reproductive age based on a pre-pregnancy birth defect control platform].

Zhonghua Yi Xue Yi Chuan Xue Za Zhi 2021 May;38(5):485-487

Hangzhou Health Service Center for Children and Women, Hangzhou, Zhejiang 310006, China.

Objective: To establish a screening model for females of reproductive age carrying Duchenne muscular dystrophy (DMD) variants based on a current community health examination platform.

Methods: A total of 61 870 participants were recruited between October 2017 and October 2019. Serum creatine kinase (CK) was measured with a Roche Cobasc 701/702 using an enzymatic rate method. Read More

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[Study on newborn screening for Duchenne muscular dystrophy and diagnostic strategy].

Zhonghua Yi Xue Yi Chuan Xue Za Zhi 2021 May;38(5):430-434

Ningbo Women and Children's Hospital, Ningbo Municipal Key Laboratory of Comprehensive Prevention and Treatment of Birth Defects, Ningbo, Zhejiang 315012, China.

Objective: To establish a newborn screening system for Duchenne muscular dystrophy (DMD) through assessment of MM isoenzyme of creatine kinase (CK-MM) activity.

Methods: The CK-MM level was detected using dry blood spot filter paper from 10 252 male newborns. The results were grouped based on their gestational age, sampling time and intervals between the experiments. Read More

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[Variant analysis and therapeutic prospect for Chinese pedigrees affected with Duchenne/Becker muscular dystrophy from a single center over the past 15 years].

Zhonghua Yi Xue Yi Chuan Xue Za Zhi 2021 May;38(5):425-429

Center of Genetic and Prenatal Diagnosis, Department of Gynecology and Obstetrics, the First Affiliated Hospital of Zhengzhou University, Zhengzhou, Henan 450052, China.

Objective: To summarize the result of genetic testing and therapeutic prospect of 2042 unrelated Chinese pedigrees affected with Duchenne/Becker muscular dystrophy (DMD/BMD) from a single center from 2005 to 2019.

Methods: Peripheral blood samples of the pedigrees were collected for the detection of DMD gene variants with combined multiple ligation-dependent probe amplification (MLPA), next generation sequencing (NGS) and Sanger sequencing.

Results: DMD and BMD have respectively accounted for 78. Read More

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Autism medical comorbidities.

World J Clin Pediatr 2021 May 9;10(3):15-28. Epub 2021 May 9.

Department of Pediatrics, University Medical Center, King Abdulla Medical City, Arabian Gulf University, Manama P.O. Box 26671, Bahrain, Bahrain.

Medical comorbidities are more common in children with autism spectrum disorders (ASD) than in the general population. Some genetic disorders are more common in children with ASD such as Fragile X syndrome, Down syndrome, Duchenne muscular dystrophy, neurofibromatosis type I, and tuberous sclerosis complex. Children with autism are also more prone to a variety of neurological disorders, including epilepsy, macrocephaly, hydrocephalus, cerebral palsy, migraine/headaches, and congenital abnormalities of the nervous system. Read More

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MRTF-A regulates Ca release through CACNA1S.

J Biosci 2021 ;46

College of Life Science and Health, Wuhan University of Science and Technology, Wuhan 430065, China.

Gene therapy is considered a potential treatment for Duchenne muscular dystrophy (DMD). Researchers have been working on this for many years to find effective therapeutic targets. Here, we found that MRTF-A (myocardin-related transcription factor A) could activate the transcription of L-type Ca-channel-related protein CACNA1S (calcium voltage-gated channel subunit alpha1 S) by binding to the CarG box in the promoter of CACNA1S. Read More

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January 2021

Prenatal diagnosis of de novo DMD duplication by multiplex ligation-dependent probe amplification (MLPA) after noninvasive prenatal screening (NIPS) at 11 gestational weeks.

Taiwan J Obstet Gynecol 2021 May;60(3):570-573

Department of Obstetrics and Gynecology, CHA Gangnam Medical Center, CHA University, Seoul, South Korea; Genetics Laboratory, Fertility Center of CHA Gangnam Medical Center, CHA University, Seoul, South Korea. Electronic address:

Objective: Dystrophinopathy is an X-linked recessive muscular dystrophy caused by mutations in the DMD gene. Herein we describe the prenatal detection of DMD gene mutations in a patient with no family history, by multiplex ligation-dependent probe amplification (MLPA) after noninvasive prenatal screening (NIPS).

Case Report: A 41-year-old woman underwent NIPS owing to an advanced maternal age. Read More

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Underlying diseases in sporadic presentation of high creatine kinase levels in girls.

Clin Chim Acta 2021 May 6. Epub 2021 May 6.

Department of Pediatrics, Hyogo College of Medicine, Nishinomiya, Japan.

Background: Persistent creatine kinase (CK) elevation can occur due to various conditions. Identifying the causes of hyperCKemia is crucial for enabling appropriate follow-up and care. Girls with elevated CK levels may be carriers of Duchenne/Becker muscular dystrophy (DMD/BMD), making diagnosis more difficult than that in boys. Read More

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Preserved thenar muscles in non-ambulant Duchenne muscular dystrophy patients.

J Cachexia Sarcopenia Muscle 2021 May 8. Epub 2021 May 8.

Duchenne Center, Leiden, Netherlands.

Background: Clinical trials in Duchenne muscular dystrophy (DMD) focus primarily on ambulant patients. Results cannot be extrapolated to later disease stages due to a decline in targeted muscle tissue. In non-ambulant DMD patients, hand function is relatively preserved and crucial for daily-life activities. Read More

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STARS overexpression in the mdx mouse enhances muscle functional capacity and regulates the actin cytoskeleton and oxidative phosphorylation pathways.

Exp Physiol 2021 May 7. Epub 2021 May 7.

Institute for Physical Activity and Nutrition (IPAN), School of Exercise and Nutrition Sciences, Deakin University, Geelong, Australia.

New Findings: What is the central question of this study? Striated Muscle activator of Rho signalling (STARS) is an actin-binding protein that regulates transcriptional pathways controlling muscle function, growth and myogenesis; processes impaired in dystrophic muscle. Regulation of the STARS pathway in Duchenne muscular dystrophy (DMD is unknown. What is the main finding and its importance? Members of the STARS signalling pathway are reduced in the quadriceps of patients with DMD and in mouse models of muscular dystrophy. Read More

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Low human dystrophin levels prevent cardiac electrophysiological and structural remodelling in a Duchenne mouse model.

Sci Rep 2021 May 7;11(1):9779. Epub 2021 May 7.

Department of Experimental Cardiology, Amsterdam UMC (Location AMC), Meibergdreef 9, 1005 AZ, Amsterdam, The Netherlands.

Duchenne muscular dystrophy (DMD) is a progressive neuromuscular disorder caused by loss of dystrophin. This lack also affects cardiac structure and function, and cardiovascular complications are a major cause of death in DMD. Newly developed therapies partially restore dystrophin expression. Read More

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Matrilineal analysis of mutations in the DMD gene in a multigenerational South Indian cohort using DMD gene panel sequencing.

Mol Genet Genomic Med 2021 May 7:e1633. Epub 2021 May 7.

MedGenome Labs, Bangalore, India.

Background: Duchenne muscular dystrophy (DMD) is an X-linked recessive neuromuscular disorder characterised by progressive irreversible muscle weakness, primarily of the skeletal and the cardiac muscles. DMD is characterised by mutations in the dystrophin gene, resulting in the absence or sparse quantities of dystrophin protein. A precise and timely molecular detection of DMD mutations encourages interventions such as carrier genetic counselling and in undertaking therapeutic measures for the DMD patients. Read More

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Bayesian adaptive design for clinical trials in Duchenne muscular dystrophy.

Stat Med 2021 May 7. Epub 2021 May 7.

Wave Life Sciences Ltd, Cambridge, Massachusetts.

A Bayesian adaptive design is proposed for a clinical trial in Duchenne muscular dystrophy. The trial was designed to demonstrate treatment efficacy on an ambulatory-based clinical endpoint and to identify early success on a biomarker (dystrophin protein levels) that can serve as a basis for accelerated approval in the United States. The trial incorporates placebo augmentation using placebo data from past clinical trials. Read More

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Evolving Roles of Muscle-Resident Fibro-Adipogenic Progenitors in Health, Regeneration, Neuromuscular Disorders, and Aging.

Front Physiol 2021 20;12:673404. Epub 2021 Apr 20.

Departamento de Biología Celular y Molecular, Center for Aging and Regeneration (CARE-ChileUC), Facultad de Ciencias Biológicas, Pontificia Universidad Católica de Chile, Santiago, Chile.

Normal skeletal muscle functions are affected following trauma, chronic diseases, inherited neuromuscular disorders, aging, and cachexia, hampering the daily activities and quality of life of the affected patients. The maladaptive accumulation of fibrous intramuscular connective tissue and fat are hallmarks of multiple pathologies where chronic damage and inflammation are not resolved, leading to progressive muscle replacement and tissue degeneration. Muscle-resident fibro-adipogenic progenitors are adaptable stromal cells with multilineage potential. Read More

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Randomised controlled trial evaluating the use of Zoledronic acid in Duchenne Muscular Dystrophy.

J Clin Endocrinol Metab 2021 May 6. Epub 2021 May 6.

Department of Endocrinology, Children's Hospital at Westmead, Sydney, Australia.

Context: Patients with glucocorticoid dependent Duchenne Muscular Dystrophy (DMD) have increased fracture risk and reduced bone mineral density (BMD), often precipitating mobility loss.

Objective: To investigate use of Zoledronic acid (ZA) in DMD in improving BMD.

Design: Two arm, parallel, randomised controlled trial. Read More

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Fiber Optic Raman Spectroscopy of Muscle in Preclinical Models of Amyotrophic Lateral Sclerosis and Duchenne Muscular Dystrophy.

ACS Chem Neurosci 2021 May 5. Epub 2021 May 5.

Sheffield Institute for Translational Neuroscience, University of Sheffield, Sheffield S10 2HQ, UK.

Neuromuscular diseases result in muscle weakness, disability, and, in many instances, death. Preclinical models form the bedrock of research into these disorders, and the development of and potentially translational biomarkers for the accurate identification of disease is crucial. Spontaneous Raman spectroscopy can provide a rapid, label-free, and highly specific molecular fingerprint of tissue, making it an attractive potential biomarker. Read More

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Determinants of usage and non-adherence to noninvasive ventilation in children and adults with Duchenne muscular dystrophy.

J Clin Sleep Med 2021 May 4. Epub 2021 May 4.

Department of Medicine, Division of Pulmonary and Critical Care Medicine, University of California San Diego, San Diego, CA.

Study Objectives: Duchenne muscular dystrophy (DMD) is a neuromuscular disorder that leads to chronic respiratory insufficiency and failure. Use of home noninvasive ventilation (NIV) has been linked to improved outcomes including reduced mortality. Despite the importance of NIV, factors promoting optimal NIV usage and determinants of non-adherence have not been rigorously examined. Read More

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Mediterranean Diet, Brain and Muscle: Olive Polyphenols and Resveratrol Protection in Neurodegenerative and Neuromuscular Disorders.

Curr Med Chem 2021 May 3. Epub 2021 May 3.

Institute of Biochemistry and Cell Biology, Section of Neurobiology, (IBBC-CNR), Rome. Italy.

The Mediterranean diet is worldwide recognized as a good prototype of nutrition due to the conspicuous intake of olive oil, nuts, red wine, legumes, fruit, and vegetables, all fundamental elements rich in antioxidant substances and polyphenols. Polyphenols are a wide range of phytochemicals and/or synthetic chemical compounds with proven beneficial properties for human health. In the present review, we critically summarize the well-characterized antioxidant and anti-inflammatory properties of polyphenols contained in the olives and extra virgin olive oil and of resveratrol, a non-flavonoid phenolic compound. Read More

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Proteomic analysis identifies key differences in the cardiac interactomes of dystrophin and micro-dystrophin.

Hum Mol Genet 2021 May 5. Epub 2021 May 5.

Centre for Gene Therapy, The Research Institute at Nationwide Children's Hospital, Columbus, 43205, OH, USA.

ΔR4-R23/ΔCT micro-dystrophin (μDys) is a miniaturized version of dystrophin currently evaluated in a Duchenne muscular dystrophy (DMD) gene therapy trial to treat skeletal and cardiac muscle disease. In pre-clinical studies, μDys efficiently rescues cardiac histopathology, but only partially normalizes cardiac function. To gain insights into factors that may impact the cardiac therapeutic efficacy of μDys, we compared by mass spectrometry the composition of purified dystrophin and μDys protein complexes in the mouse heart. Read More

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The relationship between scoliosis and upper extremity functions in patients with Duchenne muscular dystrophy.

Turk J Phys Med Rehabil 2021 Mar 4;67(1):41-47. Epub 2021 Mar 4.

Department of Physical Medicine and Rehabilitation, Dokuz Eylül University, Faculty of Medicine, Izmir, Turkey.

Objectives: The aim of this study was to investigate the relationship between scoliosis and upper extremity functions in patients with Duchenne muscular dystrophy (DMD).

Patients And Methods: Between January 2018 and July 2018, a total of 55 patients (54 males, 1 female; mean age: 9.9±2. Read More

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20-Hydroxyecdysone, from Plant Extracts to Clinical Use: Therapeutic Potential for the Treatment of Neuromuscular, Cardio-Metabolic and Respiratory Diseases.

Biomedicines 2021 Apr 29;9(5). Epub 2021 Apr 29.

Biophytis, Sorbonne Université, BC9, 4 place Jussieu, 75005 Paris, France.

There is growing interest in the pharmaceutical and medical applications of 20-hydroxyecdysone (20E), a polyhydroxylated steroid which naturally occurs in low but very significant amounts in invertebrates, where it has hormonal roles, and in certain plant species, where it is believed to contribute to the deterrence of invertebrate predators. Studies in vivo and in vitro have revealed beneficial effects in mammals: anabolic, hypolipidemic, anti-diabetic, anti-inflammatory, hepatoprotective, etc. The possible mode of action in mammals has been determined recently, with the main mechanism involving the activation of the Mas1 receptor, a key component of the renin-angiotensin system, which would explain many of the pleiotropic effects observed in the different animal models. Read More

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Nutritional status, swallowing disorders, and respiratory prognosis in adult Duchenne muscular dystrophy patients.

Pediatr Pulmonol 2021 May 3. Epub 2021 May 3.

CRMR des maladies neuromusculaires Nord-Est-Ile de France, Hôpital Raymond Poincaré, APHP, Université Paris Saclay/UFR Simone Veil-Santé-Université de Versailles Saint Quentin en Yvelines, Garches, France.

Malnutrition and swallowing disorders are common in Duchenne muscular dystrophy (DMD) patients. We assessed, in adult DMD with home mechanical ventilation (HMV) and cough assist device, its prevalence and the relationships with respiratory muscle strength and long-term respiratory prognosis. We reviewed the patients (n = 117, age 18-39 years [median 24]), followed in a reference center, from 2006 to 2015, to obtain clinical baseline, nutritional status, vital capacity (VC), maximal inspiratory pressure (MIP), and maximal expiratory pressure (MEP). Read More

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Neural substrates of neuropsychological profiles in dystrophynopathies: A pilot study of diffusion tractography imaging.

PLoS One 2021 3;16(5):e0250420. Epub 2021 May 3.

Department of Developmental Neuroscience, IRCCS Stella Maris, Calambrone, Pisa, Italy.

Introduction: Cognitive difficulties and neuropsychological alterations in Duchenne and Becker muscular dystrophy (DMD, BMD) boys are not yet sufficiently explored, although this topic could have a relevant impact, finding novel biomarkers of disease both at genetics and neuroimaging point of view. The current study aims to: 1) analyze the neuropsychological profile of a group of DMD and BMD boys without cognitive impairment with an assessment of their executive functions; 2) explore the structural connectivity in DMD, BMD, and age-matched controls focusing on cortico-subcortical tracts that connect frontal cortex, basal ganglia, and cerebellum via the thalamus; 3) explore possible correlations between altered structural connectivity and clinical neuropsychological measures.

Materials And Methods: This pilot study included 15 boys (5 DMD subjects, 5 BMD subjects, and 5 age-matched typically developing, TD). Read More

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Everyday Life Participation Using Powered Wheelchair Standing Devices by Boys With DMD.

OTJR (Thorofare N J) 2021 May 3:15394492211004844. Epub 2021 May 3.

The University of Sydney School of Health Sciences, New South Wales, Australia.

Powered wheelchair standing devices (PWSDs) allow supported standing for activity; however, little is known about their use. To understand factors affecting use of supported standing for participation among boys with Duchenne muscular dystrophy (DMD) and characteristics of successful users, we gathered data over 7 days from boys who had used PWSDs for 24 months, using a smartphone application. We used descriptive statistics to identify factors that affected their participation. Read More

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The Potential of Induced Pluripotent Stem Cells to Test Gene Therapy Approaches for Neuromuscular and Motor Neuron Disorders.

Front Cell Dev Biol 2021 13;9:662837. Epub 2021 Apr 13.

Sorbonne University, INSERM, Institute of Myology, Center of Research in Myology, Paris, France.

The reprogramming of somatic cells into induced pluripotent stem cells (iPSCs) represents a major advance for the development of human disease models. The emerging of this technique fostered the concept of "disease in a dish," which consists into the generation of patient-specific models . Currently, iPSCs are used to study pathological molecular mechanisms caused by genetic mutations and they are considered a reliable model for high-throughput drug screenings. Read More

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