Search Our Scientific Publications & Authors

Biomed Res Int 2019 13;2019:4789101. Epub 2019 Mar 13.

Department of Pediatric Radiology, Medical University of Bialystok, Bialystok, Poland.

Introduction: In addition to the "gold standard" of therapy-steroids and gene therapy-there are experimental trials using granulocyte-colony stimulating factor (G-CSF) for patients with Duchenne muscular dystrophy (DMD). The aim of this study was to present the biochemical changes in blood after repeating cycles of granulocyte-colony stimulating factor G-CSF therapy in children with DMD.

Materials And Methods: Nineteen patients, aged 5 to 15 years, with diagnosed DMD confirmed by genetic tests, participated; nine were in wheelchairs, and ten were mobile and independent. Read More

Hastings Cent Rep 2019 Mar;49(2):17-25

In this article, our analysis of empathy in the clinical context hinges on the complexities of patients who are acutely suffering. Using a case concerning a heart transplant patient with Duchenne muscular dystrophy, Alex, and his nurse, Joe, we investigate how empathy's phenomenological nebulousness can generate doubts about its virtue. Even when asking, "How are you, Alex?" Joe hates the question; it seems empty, silly. Read More

Am J Physiol Cell Physiol 2019 Apr 17. Epub 2019 Apr 17.

Departments of Orthopaedics and Physiology, University of Maryland School of Medicine, United States.

Mechanical forces regulate muscle development, hypertrophy, and homeostasis. Force-transmitting structures allow mechanotransduction at the sarcolemma, cytoskeleton, and nuclear envelope. There is growing evidence that YAP (Yes-associated protein) serves as a nuclear relay of mechanical signals and can induce a range of downstream signaling cascades. Read More

Muscle Nerve 2019 Apr 17. Epub 2019 Apr 17.

Division of Neurology, Children's Hospital of Eastern Ontario, University of Ottawa, Ottawa, Ontario, Canada.

Hum Mol Genet 2019 Mar 5. Epub 2019 Mar 5.

MDUK Oxford Neuromuscular Centre, Department of Physiology, Anatomy and Genetics, Oxford, UK.

Duchenne muscular dystrophy (DMD) is a lethal neuromuscular disorder caused by loss of dystrophin. Several therapeutic modalities are currently in clinical trials but none will achieve maximum functional rescue and full disease correction. Therefore, we explored the potential of combining the benefits of dystrophin with increases of utrophin, an autosomal paralogue of dystrophin. Read More

Sci Rep 2019 Apr 15;9(1):6078. Epub 2019 Apr 15.

Centre for Molecular Medicine and Innovative Therapeutics, Murdoch University, Perth, 6150, Australia.

Antisense oligonucleotide (AO)-mediated splice modulation has been established as a therapeutic approach for tackling genetic diseases. Recently, Exondys51, a drug that aims to correct splicing defects in the dystrophin gene was approved by the US Food and Drug Administration (FDA) for the treatment of Duchenne muscular dystrophy (DMD). However, Exondys51 has relied on phosphorodiamidate morpholino oligomer (PMO) chemistry which poses challenges in the cost of production and compatibility with conventional oligonucleotide synthesis procedures. Read More

Dev Med Child Neurol 2019 Apr 13. Epub 2019 Apr 13.

Department of Epidemiology and Biostatistics, Schulich School of Medicine and Dentistry, Western University, London, ON, Canada.

Aim: To describe fatigue in Duchenne muscular dystrophy (DMD) from patients' and parents' perspectives and to explore risk factors for fatigue in children and adolescents with DMD.

Method: A multicentre, cross-sectional study design was used. Seventy-one patients (all males; median age 12y, age range 5-17y) identified via the Canadian Neuromuscular Disease Registry, and their parents completed questionnaires. Read More

Am J Transl Res 2019 15;11(3):1202-1218. Epub 2019 Mar 15.

Department of Medical Genetics, Faculty of Medicine and Dentistry, University of Alberta 8812-112 St., Edmonton, AB T6G 2H7, Canada.

Duchenne muscular dystrophy (DMD) is an X-linked recessive fatal neuromuscular disorder characterized by progressive muscle degeneration which affects one in 3500-5000 males born worldwide. DMD is caused by loss-of-function mutations in the () gene encoding for dystrophin, a cytoskeletal protein that supports the structural integrity of myofibers during cycles of muscle contraction and relaxation. DMD patients do not only experience skeletal muscle deterioration but also severe cardiomyopathy, which is recognized as the current leading cause of death for the disease. Read More

Neural Regen Res 2019 Aug;14(8):1317-1320

MDUK Oxford Neuromuscular Centre, Department of Physiology, Anatomy and Genetics, Oxford, UK.

Skeletal muscle has an extraordinary capacity to regenerate after injury and trauma. The muscle repair mechanism is a complex process orchestrated by multiple steps. In neuromuscular disorders such as Duchenne muscular dystrophy (DMD), the pathological consequences of the lack of dystrophin and the loss of the dystrophin-associated protein complex are dramatic, with a progressive cascade of events, such as continual influx of inflammation, repeated cycles of degeneration and impaired regeneration. Read More

Sci Rep 2019 Apr 8;9(1):5770. Epub 2019 Apr 8.

Center for Genetic Medicine, Feinberg School of Medicine, Northwestern University, Chicago, IL, USA.

The loss of dystrophin produces a mechanically fragile sarcolemma, causing muscle membrane disruption and muscle loss. The degree to which exercise alters muscular dystrophy has been evaluated in humans with Duchenne Muscular Dystrophy (DMD) and in mouse models including the mdx mouse but with inconsistent findings. We now examined two different levels of exercise, moderate and low intensity, in the mdx mouse model in the DBA2J background. Read More

Qual Health Res 2019 Apr 8:1049732319838235. Epub 2019 Apr 8.

1 Bloorview Research Institute, Toronto, Ontario, Canada.

Clinicians' positive demeanor and "strengths based" focus can include working to create a cheerful atmosphere in health care environments, cheering for improvements in assessment outcomes, and cheering up clients in situations of decline. Drawing from philosopher Karen Barad's theories of inclusions and exclusions, we investigated what comes to matter (and what is excluded from mattering) when there is cheerfulness, cheering, and so forth (cheer*) in the day-to-day practices of a neuromuscular clinic. We worked collaboratively with clinicians, young people with Duchenne muscular dystrophy, and their families to co-examine the clinic in three iterative exploratory method spaces: (a) group "dialogues" with clinicians; (b) consultative interviews with children, families, and clinicians; and (c) transdisciplinary research team analysis sessions. Read More

J Pediatr 2019 Apr 4. Epub 2019 Apr 4.

Pediatric Non-invasive Ventilation and Sleep Unit, Necker University Hospital, Paris, France.

Objective: To describe and compare the lung function decline in patients with Duchenne muscular dystrophy on glucocorticoid therapy in contrast with glucocorticoid-naïve patients, and to define the deciles of pulmonary decline in glucocorticoid-treated patients.

Study Design: This retrospective study examined lung function of patients with Duchenne muscular dystrophy over 6 years of age followed between 2001 and 2015 at 2 centers-glucocorticoid-treated patients in Cincinnati, Ohio, and glucocorticoid-naïve patients in Paris, France. Forced vital capacity (FVC, FVC%), forced expiratory volume in 1 second, maximal inspiratory pressure, maximal expiratory pressure, and peak expiratory flow data were analyzed. Read More

Cell Tissue Res 2019 Apr 5. Epub 2019 Apr 5.

Departamento de Imunobiologia, Instituto de Biologia, Universidade Federal Fluminense, Niterói, Rio de Janeiro, 24020-141, Brazil.

Duchenne muscular dystrophy is a lethal X-linked muscle wasting disease due to mutations of the dystrophin gene leading to distinct susceptibility to degeneration and fibrosis among skeletal muscles. This study aims at verifying whether intense mdx diaphragm remodeling could be attributed to influences from the omentum, a lymphohematopoietic tissue rich in progenitor cells and trophic factors. Mdx omentum produces growth factors HGF and FGF and increased amounts of VEGF with pleiotropic actions upon muscular progenitors and myoblast differentiation. Read More

Eur J Anaesthesiol 2019 Apr 3. Epub 2019 Apr 3.

From the Department of Anaesthesiology, Herlev and Gentofte Hospital, University of Copenhagen, Herlev, Denmark (EL-M, ML-K, JB-S, CM-S, MV-M, MR-G).

Background: Nondepolarising muscle relaxants (NDMRs) provide optimal conditions for tracheal intubation and improve surgical conditions. Several clinical conditions, diseases and pharmacological interactions have been suggested to cause resistance towards NDMRs that may translate into difficult intubation or inadequate operating conditions during surgery.

Objective: The aim of this study was to evaluate the current evidence of patient groups with resistance towards NDMRs. Read More

Acta Myol 2018 Dec 1;37(4):272-274. Epub 2018 Dec 1.

Cardiomyology and Medical Genetics, Department of Experimental Medicine, University of Campania "Luigi Vanvitelli", Naples, Italy.

Duchenne muscular Dystrophy (DMD) is a X-linked degenerative disorder affecting skeletal muscles and myocardium caused by mutations in the dystrophin gene, mainly deletions and duplications. Point-mutations account for 13% and stop codon mutations are even more unfrequent. A drug treatment for patients with DMD caused by stop codon gene mutations and still ambulant, has become recently available, based on the clear demonstration of its efficacy in slowing the course of the disease. Read More

SAGE Open Med 2019 27;7:2050312119840518. Epub 2019 Mar 27.

Department of Pediatrics, The University of Arizona, Tucson, AZ, USA.

Introduction: Information on use of palliative care services among individuals with Duchenne and Becker muscular dystrophy is scant despite the clearly documented need.

Methods: We examined associations between uptake of palliative care services by 233 males with Duchenne and Becker muscular dystrophy aged 12 and older for both caregiver and affected male characteristics using the Muscular Dystrophy Surveillance Tracking and Research Network baseline interview.

Results: Ninety-one percent of caregivers (213/233) used at least one palliative care service. Read More

JCI Insight 2019 Apr 4;4(7). Epub 2019 Apr 4.

Dystrophin deficiency leads to progressive muscle degeneration in Duchenne muscular dystrophy (DMD) patients. No known cure exists, and standard care relies on the use of antiinflammatory steroids, which are associated with side effects that complicate long-term use. Here, we report that a single intravenous dose of clinical-stage cardiac stromal cells, called cardiosphere-derived cells (CDCs), improves the dystrophic phenotype in mdx mice. Read More

PLoS One 2019 3;14(4):e0214645. Epub 2019 Apr 3.

Department Biomechanical Engineering, University of Twente, Enschede, The Netherlands.

Duchenne muscular dystrophy (DMD) is a muscular condition that leads to muscle loss. Orthotic devices may present a solution for people with DMD to perform activities of daily living (ADL). One such device is the active trunk support but it needs a control interface to identify the user's intention. Read More

FEBS J 2019 Apr 3. Epub 2019 Apr 3.

Department of Biochemistry, Molecular Biology and Biophysics, University of Minnesota, Minneapolis, MN, USA.

Eccentric contractions (ECCs) induce force loss in several skeletal muscles of dystrophin-deficient mice (mdx), with the exception of the soleus (Sol). The eccentric force : isometric force (ECC : ISO), expression level of utrophin, fiber type distribution, and sarcoendoplasmic reticulum calcium ATPase expression are factors that differ between muscles and may contribute to the sensitivity of mdx skeletal muscle to ECC. Here, we confirm that the Sol of mdx mice loses only 13% force compared to 87% in the extensor digitorum longus (EDL) following 10 ECC of isolated muscles. Read More

Nat Biotechnol 2019 Apr;37(4):335-337

, Brighton, UK.

Orphanet J Rare Dis 2019 Apr 2;14(1):75. Epub 2019 Apr 2.

Medical Management Centre, Department of Learning, Informatics, Management and Ethics, Karolinska Institutet, Stockholm, Sweden.

FASEB J 2019 Apr 2:fj201802479R. Epub 2019 Apr 2.

Department of Growth Regulation, Institute for Frontier Life and Medical Sciences, Kyoto University, Kyoto, Japan.

Skeletal muscle satellite cells (SMSCs), the major stem cells responsible for the regeneration of skeletal muscle, are normally cell cycle arrested but differentiate to generate myocytes upon muscle damage, forming new myofibers along with self-renewing stem cells in preparation for subsequent injury. In this study, we investigated which factors stimulate the proliferation and differentiation of SMSCs and found that pyruvate, the end product of glycolysis, stimulates their differentiation. Pyruvate antagonizes the effects of hypoxia on preferential self-renewal of SMSCs through dephosphorylation or activation of pyruvate dehydrogenase (PDH), which mediates opening of the gateway from glycolysis to the tricarboxylic acid (TCA) cycle by producing acetyl coenzyme A from pyruvate. Read More

J Cachexia Sarcopenia Muscle 2019 Apr 2. Epub 2019 Apr 2.

School of Kinesiology and Health Science, Muscle Health Research Centre, 344 Norman Bethune College, York University, Toronto, ON, Canada.

Background: Muscle wasting and weakness in Duchenne muscular dystrophy (DMD) causes severe locomotor limitations and early death due in part to respiratory muscle failure. Given that current clinical practice focuses on treating secondary complications in this genetic disease, there is a clear need to identify additional contributions in the aetiology of this myopathy for knowledge-guided therapy development. Here, we address the unresolved question of whether the complex impairments observed in DMD are linked to elevated mitochondrial H O emission in conjunction with impaired oxidative phosphorylation. Read More

Mol Genet Genomic Med 2019 Apr 1:e622. Epub 2019 Apr 1.

Department of Pathology, Nanfang Hospital and School of Basic Medical Sciences, Southern Medical University, Guangzhou, P.R. China.

Background: Duchenne muscular dystrophy (DMD) is the most common form of inherited muscular dystrophy. Germline mutations in dystrophin (DMD) gene cause DMD, with a X-linked recessive mode of inheritance. Patients with DMD are usually characterized by weakness of muscle, usually started since childhood and gradually the patient will unable to stand and walk. Read More

Neuromuscul Disord 2019 Apr 20;29(4):342. Epub 2019 Feb 20.

Developmental Endocrinology Research Group, Royal Hospital for Children, Glasgow. Electronic address:

Int J Mol Sci 2019 Mar 27;20(7). Epub 2019 Mar 27.

Dipartimento di scienze Biomediche, Sperimentali e Cliniche "M. Serio", Università degli studi di Firenze, Viale Morgagni 50, 50134 Firenze, Italy.

In skeletal muscle, adiponectin has varied and pleiotropic functions, ranging from metabolic, anti-inflammatory, insulin-sensitizing to regenerative roles. Despite the important functions exerted by adiponectin, the study of the hormone in myopathies is still marginal. Myopathies include inherited and non-inherited/acquired neuromuscular pathologies characterized by muscular degeneration and weakness. Read More

FASEB J 2019 Apr 1:fj201802488R. Epub 2019 Apr 1.

Department of Human Genetics, Leiden University Medical Centre, Leiden, The Netherlands.

The C57BL/10ScSn- Dmd/J (BL10- mdx) mouse has been the most commonly used model for Duchenne muscular dystrophy (DMD) for decades. Their muscle dysfunction and pathology is, however, less severe than in patients with DMD, which complicates preclinical studies. Recent discoveries indicate that disease severity is exacerbated when muscular dystrophy mouse models are generated on a DBA2/J genetic background. Read More

Neuromuscul Disord 2019 Apr 25;29(4):317-320. Epub 2019 Jan 25.

Department of Human Genetics, Radboud University Medical Centre, Nijmegen, The Netherlands.

In African neurological practice, muscle disorders are either underdiagnosed or underrepresented. This may in part be due to the large burden of other more common neurological disorders. In this report we describe the first Tanzanian patient with genetically confirmed Becker muscular dystrophy. Read More

Nurs Open 2019 Apr 10;6(2):283-292. Epub 2018 Nov 10.

University of Edinburgh Old Medical School Teviot Place Edinburgh UK.

Aim: To contribute insight into health and social care integration through an exploration of the care experiences of adults with degenerative neuromuscular conditions who use a mechanical ventilator at home.

Design: Descriptive qualitative research.

Methods: Seventeen semi-structured interviews were conducted with patients and family carers living in Scotland during 2015-2016 and thematically analysed. Read More

J Neuroeng Rehabil 2019 Mar 27;16(1):44. Epub 2019 Mar 27.

Department of Rehabilitation, Radboud University Medical Center, Donders Centre for Neuroscience, P.O. Box 9101, Nijmegen, HB, 6500, The Netherlands.

Background: Performing daily activities independently becomes more difficult in time for patients with Duchenne muscular dystrophy (DMD) due to muscle weakness. When performing seated daily activities, the trunk plays an indispensable role besides the upper extremities. However, knowledge is lacking on the interaction between trunk and upper extremities. Read More

Nucleic Acids Res 2019 Mar 27. Epub 2019 Mar 27.

Department of Chemistry and Biochemistry, University of Bern, Freiestrasse 3, Bern CH-3012, Switzerland.

Tc-DNA is a conformationally constrained oligonucleotide analogue which shows significant increase in thermal stability when hybridized with RNA, DNA or tc-DNA. Remarkably, recent studies revealed that tc-DNA antisense oligonucleotides (AO) hold great promise for the treatment of Duchenne muscular dystrophy and spinal muscular atrophy. To date, no high-resolution structural data is available for fully modified tc-DNA duplexes and little is known about the origins of their enhanced thermal stability. Read More

Sci Rep 2019 Mar 26;9(1):5210. Epub 2019 Mar 26.

Department of Electrical and Computer Engineering, University of Minnesota - Twin Cities, Minneapolis, MN, 55455, USA.

Patients with Duchenne muscular dystrophy (DMD) lack the protein dystrophin, which is a critical molecular component of the dystrophin-glycoprotein complex (DGC). Dystrophin is hypothesized to function as a molecular shock absorber that mechanically stabilizes the sarcolemma of striated muscle through interaction with the cortical actin cytoskeleton via its N-terminal half and with the transmembrane protein β-dystroglycan via its C-terminal region. Utrophin is a fetal homologue of dystrophin that can subserve many dystrophin functions and is therefore under active investigation as a dystrophin replacement therapy for DMD. Read More

Physiol Rep 2019 Mar;7(6):e14018

Department of Physiology & Biophysics, University of Washington, Seattle, Washington.

Duchenne muscular dystrophy (DMD), caused by absence of the protein dystrophin, is a common, degenerative muscle disease affecting 1:5000 males worldwide. With recent advances in respiratory care, cardiac dysfunction now accounts for 50% of mortality in DMD. Recently, we demonstrated that simvastatin substantially improved skeletal muscle health and function in mdx (DMD) mice. Read More

Cell Prolif 2019 Mar 26:e12599. Epub 2019 Mar 26.

Department of Experimental Medicine, University of Perugia, Perugia, Italy.

Sertoli cells (SeC) are responsible for the immunoprivileged status of the testis thanks to which allogeneic or xenogeneic engraftments can survive without pharmacological immune suppression if co-injected with SeC. This peculiar ability of SeC is dependent on secretion of a plethora of factors including maturation factors, hormones, growth factors, cytokines and immunomodulatory factors. The anti-inflammatory and trophic properties of SeC have been largely exploited in several experimental models of diseases, diabetes being the most studied. Read More

Cells 2019 Mar 23;8(3). Epub 2019 Mar 23.

Mitochon Pharmaceuticals, Inc., 970 Cross Lane, Blue Bell, PA 19422, USA.

In the sanctity of pure drug discovery, objective reasoning can become clouded when pursuing ideas that appear unorthodox, but are spot on physiologically. To put this into historical perspective, it was an unorthodox idea in the 1950's to suggest that warfarin, a rat poison, could be repositioned into a breakthrough drug in humans to protect against strokes as a blood thinner. Yet it was approved in 1954 as Coumadin and has been prescribed to billions of patients as a standard of care. Read More

Zhongguo Dang Dai Er Ke Za Zhi 2019 Mar;21(3):244-248

Department of Pediatrics, First Affiliated Hospital of Zhengzhou University, Zhengzhou 450052, China.

The purpose of this study is to analyze the family's clinical data of 22 children who were given an intended clinical diagnosis of Duchenne muscular dystrophy (DMD), and to explore the clinical value of next-generation sequencing (NGS) in the molecular diagnosis of DMD. The probands were simultaneously tested by NGS for a gene panel associated with hereditary neuromuscular disease and multiplex ligation-dependent probe amplification (MLPA) for the Dystrophin gene. The exon deletion/repetition mutations of the Dystrophin gene determined by both methods were compared and the point mutations of the Dystrophin gene were verified by Sanger sequencing. Read More

Glob Pediatr Health 2019 15;6:2333794X19835661. Epub 2019 Mar 15.

The Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada.

Vitamin D supplementation is important for many chronic pediatric conditions to help maintain bone health; however, there is little evidence about how disease-related factors affect vitamin D status. The objective was to compare 25-hydroxyvitamin D (25(OH)D) concentrations in 3 pediatric cohorts (Duchenne muscular dystrophy [DMD], systemic lupus erythematosus [SLE], and osteogenesis imperfecta [OI]). In a retrospective study of 367 subjects, children with DMD had increased prevalence of vitamin D insufficiency (25% vs 14% [SLE] and 10% [OI], = . Read More

World J Pediatr 2019 Mar 23. Epub 2019 Mar 23.

Department of Neurology, University of Rochester School of Medicine and Dentistry, 601 Elmwood Ave, Box 673, Rochester, NY, 14642, USA.

Background: Advances in treatment for Duchenne muscular dystrophy (DMD) and spinal muscular atrophy (SMA) hold promise for children with these disorders. Accurate genetic diagnosis, early in the disease process, will allow these treatments to be most effective. Newborn screening (NBS) for SMA has been recommended in the United States, and a pilot DMD NBS program is underway in Hangzhou, China. Read More

Biochim Biophys Acta Mol Basis Dis 2019 Mar 21. Epub 2019 Mar 21.

Department of Pharmacology, Faculty of Medicine, Chiang Mai University, Thailand; Research Center of Pharmaceutical Nanotechnology, Chiang Mai University, Thailand; Laboratory of Developmental Neurobiology, Department of Molecular Cell Biology, Leiden University Medical Center, the Netherlands. Electronic address:

Evolutionarily conserved homeostatic systems have been shown to modulate synaptic efficiency at the neuromuscular junctions of organisms. While advances have been made in identifying molecules that function presynaptically during homeostasis, limited information is currently available on how postsynaptic alterations affect presynaptic function. We previously identified a role for postsynaptic Dystrophin in the maintenance of evoked neurotransmitter release. Read More

Curr Opin Pharmacol 2019 Mar 19;47:40-45. Epub 2019 Mar 19.

School of Pharmacy and Biomedical Sciences, University of Portsmouth, UK; Military Institute of Hygiene and Epidemiology, Warsaw, Poland. Electronic address:

Mutations in the dystrophin and sarcoglycans genes result in muscular dystrophies causing severe disability and premature death and where no effective treatment is available. New therapeutic approaches targeting secondary disease mechanisms have a strong translational potential. Dystrophic muscle damage triggers release of ATP whilst loss of ecto-ATPase activity of sarcoglycan further elevates extracellular ATP (eATP) levels. Read More

Biochemistry 2019 Apr 1;58(15):2061-2076. Epub 2019 Apr 1.

Duchenne muscular dystrophy (DMD) is a common and devastating genetic disease primarily caused by exon deletions that create a genetic frameshift in dystrophin. Exon skipping therapy seeks to correct this by masking an exon during the mRNA maturation process, restoring dystrophin expression, but creating an edited protein missing both the original defect and the therapeutically skipped region. Crucially, it is possible to correct many defects in alternative ways, by skipping an exon either before or after the patient's defect. Read More

J Dent Sci 2018 Mar 13;13(1):60-67. Epub 2018 Feb 13.

Department of Dentistry, School of Dentistry National Taiwan University, No. 1, Changde St., Taipei City, 10048, Taiwan.

Background/purpose: Concomitant hypo-hyperdontia (CHH) is a rare numeric dental anomaly characterized by congenital missing teeth and supernumerary teeth occurring in the same individual. Due to its rarity and sporadicity, the causes of CHH have been completely unknown. Detailed characterization and presentation of more CHH cases not only strengthen clinical diagnosis and treatment for the patients but facilitate the search for etiological factors of the disorder. Read More

J Muscle Res Cell Motil 2019 Mar 19. Epub 2019 Mar 19.

Department of Biology, Maynooth University, National University of Ireland, Maynooth, Co. Kildare, Ireland.

The diaphragm is a crucial muscle involved in active inspiration and whole body homeostasis. Previous biochemical, immunochemical and cell biological investigations have established the distribution and fibre type-specific expression of key diaphragm proteins. Building on these findings, it was of interest to establish the entire experimentally assessable diaphragm proteome and verify the presence of specific protein isoforms within this specialized subtype of skeletal muscle. Read More

J Cachexia Sarcopenia Muscle 2019 Mar 18. Epub 2019 Mar 18.

State Key Laboratory of Space Medicine Fundamentals and Application, China Astronaut Research and Training Center, Beijing, China.

Background: Muscle wasting occurs in response to various physiological and pathological conditions, including ageing and Duchenne muscular dystrophy (DMD). Transforming growth factor-β1 (TGF-β1) contributes to muscle pathogenesis in elderly people and DMD patients; inhibition of TGF-β1 signalling is a promising therapeutic strategy for muscle-wasting disorders. Hemojuvelin (HJV or Hjv as the murine homologue) is a membrane-bound protein that is highly expressed in skeletal muscle, heart, and liver. Read More

J Pathol 2019 Mar 18. Epub 2019 Mar 18.

Center for Genetic Medicine, Children's National Health System, Washington, DC, USA.

Exon skipping is a promising genetic therapeutic strategy for restoring dystrophin expression in the treatment of Duchenne muscular dystrophy (DMD). The potential for newly synthesized dystrophin to trigger an immune response in DMD patients, however, is not well established. We have evaluated the effect of chronic phosphorodiamidate morpholino oligomer (PMO) treatment on skeletal muscle pathology and asked whether sustained dystrophin expression elicits a dystrophin-specific autoimmune response. Read More

J Pediatr Rehabil Med 2019 Mar 6. Epub 2019 Mar 6.

Department of Epidemiology and Biostatistics, University of South Carolina Arnold School of Public Health, Columbia, SC, USA.

Purpose: Studies have shown that children with muscular dystrophy are at increased risk for falls, however there is insufficient information about what predicts the first and subsequent events. The purpose of this study was to describe the experience of injury with emphasis on identifying risk factors for fall-related injuries.

Methods: We studied 269 boys with muscular dystrophy describing their injury experience and identifying risk and protective factors associated with 281 non-simultaneous injuries and 127 falls that resulted in Emergency Department visits and/or inpatient hospitalization during the period 1998-2014. Read More

Sports (Basel) 2019 Mar 15;7(3). Epub 2019 Mar 15.

Laboratory of Muscle and Translational Therapeutics, Department of Physical Therapy, Duquesne University, Pittsburgh, PA 15228, USA.

Precision medicine is being discussed and incorporated at all levels of health care and disease prevention, management, and treatment. Key components include new taxonomies of disease classification, the measurement and incorporation of genetics and "omics" data, biomarkers, and health care professionals who can optimize this information for a precision approach to treatment. The study and treatment of Duchenne Muscular Dystrophy is making rapid advances in these areas in addition to rapid advances in new gene and cell-based therapies. Read More

PLoS One 2019 15;14(3):e0213768. Epub 2019 Mar 15.

Department of Pediatrics, Graduate School of Medicine Kyoto University, Kyoto City, Japan.

Duchenne muscular dystrophy (DMD) is the most common and severe form of muscular dystrophy. The major symptoms of this condition are walking difficulties, dyspnea caused by progressive skeletal muscle weakness, and cardiomyopathy. Recent advances in ventilator support devices have dramatically decreased mortality caused by respiratory distress. Read More

Curr Med Sci 2019 Feb 13;39(1):138-145. Epub 2019 Mar 13.

Department of Neurology, Peking University First Hospital, Beijing, 100034, China.

Quantitative magnetic resonance image (MRI) in individual muscles may be useful for monitoring disease progression in Duchenne muscular dystrophy (DMD). The purpose of this study was to measure T2 relaxation time of thigh muscles in children with DMD and healthy boys, and to correlate the T2 relaxation time of muscles with the fat fraction (FF) at quantitative magnetic resonance and results of clinical assessment. Thirty-two boys with DMD and 18 healthy boys were evaluated with T2 mapping and three-point Dixon MRI. Read More

Curr Med Sci 2019 Feb 13;39(1):67-74. Epub 2019 Mar 13.

Department of Orthopaedics, Union Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, 430022, China.

Demyelination of axons plays an important role in the pathology of many spinal cord diseases and injuries. Remyelination in demyelinated lesions is primarily performed by oligodendrocyte progenitor cells (OPCs), which generate oligodendrocytes in the developing and mature central nervous system. The efficiency of remyelination decreases with age. Read More