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    Value of Osteoblast-Derived Exosomes in Bone Diseases.
    J Craniofac Surg 2017 May 25. Epub 2017 May 25.
    Department of Plastic Surgery, Huashan Hospital, Fudan University, Shanghai, China.
    Purpose: The authors' purpose is to reveal the value of osteoblast-derived exosomes in bone diseases.

    Methods: Microvesicles from supernatants of mouse Mc3t3 were isolated by ultracentrifugation and then the authors presented the protein profile by proteomics analysis.

    Results: The authors detected a total number of 1536 proteins by mass spectrometry and found 172 proteins overlap with bone database. Read More

    Subtly modulating Glycogen Synthase Kinase 3 β: allosteric inhibitors development and their potential for the treatment of chronic diseases.
    J Med Chem 2017 May 26. Epub 2017 May 26.
    Glycogen synthase kinase 3 β (GSK-3β) is a central target in several unmet diseases. To increase the specificity of GSK-3β inhibitors in chronic treatments we are developing small molecules allowing subtle modulation of GSK-3β activity. Design synthesis, structure-activity relationships and binding mode of quinoline-3-carbohydrazide derivatives as allosteric modulators of GSK-3β are here presented. Read More

    Whole exome sequencing of a patient with suspected mitochondrial myopathy reveals novel compound heterozygous variants in RYR1.
    Mol Genet Genomic Med 2017 May 30;5(3):295-302. Epub 2017 Mar 30.
    Center for Individualized MedicineMayo ClinicJacksonvilleFlorida.
    Background: Pathogenic variants in ryanodine receptor 1 (RYR1, MIM# 180901) are the cause of congenital myopathy with fiber-type disproportion, malignant hyperthermia susceptibility type 1, central core disease of muscle, multiminicore disease and other congenital myopathies.

    Methods: We present a patient with global developmental delay, hypotonia, myopathy, joint hypermobility, and multiple other systemic complaints that were noted early in life. Later she was found to have multiple bone deformities involving her spine, with severe scoliosis that was corrected surgically. Read More

    Cardiovascular magnetic resonance imaging: clinical implications in the evaluation of connective tissue diseases.
    J Inflamm Res 2017 11;10:55-61. Epub 2017 May 11.
    Onassis Cardiac Surgery Center, Athens, Greece.
    Cardiovascular magnetic resonance imaging is a recently developed noninvasive, nonradiating, operator-independent technique that has been successfully used for the evaluation of congenital heart disease, valvular and pericardial diseases, iron overload, cardiomyopathies, great and coronary vessel diseases, cardiac inflammation, stress-rest myocardial perfusion, and fibrosis. Rheumatoid arthritis and other spondyloarthropathies, systemic lupus erythematosus, inflammatory myopathies, mixed connective tissue diseases (CTDs), systemic sclerosis, vasculitis, and sarcoidosis are among CTDs with serious cardiovascular involvement; this is due to multiple causative factors such as myopericarditis, micro/macrovascular disease, coronary artery disease, myocardial fibrosis, pulmonary hypertension, and finally heart failure. The complicated pathophysiology and the high cardiovascular morbidity and mortality of CTDs demand a versatile, noninvasive, nonradiative diagnostic tool for early cardiovascular diagnosis, risk stratification, and treatment follow-up. Read More

    Dynamic changes in the skeletal muscle proteome during denervation-induced atrophy.
    Dis Model Mech 2017 May 25. Epub 2017 May 25.
    Institute for Genetics, Cologne Excellence Cluster on Cellular Stress Responses in Aging-Associated Diseases (CECAD), Cologne Germany
    Loss of neuronal stimulation enhances protein breakdown and reduces protein synthesis, causing rapid muscle mass loss. To elucidate the pathophysiological adaptations that occur in atrophying muscles, we used stable isotope labelling and mass spectrometry to accurately quantify protein expression changes during denervation-induced atrophy after sciatic nerve section in the mouse gastrocnemius muscle (GAST). Additionally, mice were fed a SILAC diet containing (13)C6 lysine for four, seven, or eleven days to calculate relative levels of protein synthesis in denervated and control muscles. Read More

    Vascular disease in COPD: Systemic and pulmonary expression of PARC (Pulmonary and Activation-Regulated Chemokine).
    PLoS One 2017 18;12(5):e0177218. Epub 2017 May 18.
    Department of Pulmonary Medicine, Bellvitge University Hospital -IDIBELL, University of Barcelona, L'Hospitalet de Llobregat, Barcelona, Spain.
    Introduction: The role of Pulmonary and Activation-Regulated Chemokine (PARC) in the physiopathology of Chronic Obstructive Pulmonary Disease (COPD) is not fully understood. The aim of the present study is to analyze the expression of PARC in lung tissue and its relationship with the vascular remodeling of the systemic and pulmonary arteries of COPD subjects.

    Methods: To achieve this objective, protein and gene expression experiments, together with ELISA assays, were performed on the lung tissue, intercostal arteries and serum samples from COPD patients, non-obstructed smokers (NOS) and never-smokers (NS). Read More

    Recessive mutations in MSTO1 cause mitochondrial dynamics impairment, leading to myopathy and ataxia.
    Hum Mutat 2017 May 23. Epub 2017 May 23.
    Molecular Neurogenetics Unit, Foundation IRCCS Neurological Institute Besta, Milan, Italy.
    We report here the first families carrying recessive variants in the MSTO1 gene: compound heterozygous mutations were identified in two sisters and in an unrelated singleton case, who presented a multisystem complex phenotype mainly characterized by myopathy and cerebellar ataxia. Human MSTO1 is a poorly studied protein, suggested to have mitochondrial localization and to regulate morphology and distribution of mitochondria. As for other mutations affecting genes involved in mitochondrial dynamics, no biochemical defects typical of mitochondrial disorders were reported. Read More

    The pathogenesis of dermatomyositis.
    Br J Dermatol 2017 May 24. Epub 2017 May 24.
    Department of Rheumatology, University Hospital of Wales, Cardiff, U.K.
    This review looks at the many different factors thought to play a role in idiopathic inflammatory myopathies (IIM), concentrating mainly on the dermatomyositis (DM) subtype. Subject areas addressed include looking at the different clinical features of IIM, paying particular attention to the skin manifestations. There is a discussion around investigations needed with their perceived value, followed by a description of the immunohistochemical findings of DM. Read More

    A recessive mutation in beta-IV-spectrin (SPTBN4) associates with congenital myopathy, neuropathy, and central deafness.
    Hum Genet 2017 May 24. Epub 2017 May 24.
    NeuroCure Clinical Research Center, Charité-Universitätsmedizin Berlin, Corporate Member of Freie Universität Berlin, Humboldt-Universität zu Berlin, and Berlin Institute of Health (BIH), Berlin, Germany.
    Congenital myopathies are a heterogeneous group of muscle disorders that are often genetically determined. Here, we investigated a boy with congenital myopathy, deafness, and neuropathy from a consanguineous Kurdish family by autozygosity mapping and whole exome sequencing. We found a homozygous nonsense mutation in SPTBN4 [c. Read More

    Recapitulating and Correcting Marfan Syndrome in a Cellular Model.
    Int J Biol Sci 2017 10;13(5):588-603. Epub 2017 Apr 10.
    Faculty of Health Sciences, University of Macau, Taipa, Macau, China.
    Marfan syndrome (MFS) is a connective tissue disorder caused by mutations in FBN1 gene, which encodes a key extracellular matrix protein FIBRILLIN-1. The haplosufficiency of FBN1 has been implicated in pathogenesis of MFS with manifestations primarily in cardiovascular, muscular, and ocular tissues. Due to limitations in animal models to study the late-onset diseases, human pluripotent stem cells (PSCs) offer a homogeneic tool for dissection of cellular and molecular pathogenic mechanism for MFS in vitro. Read More

    Immune Myopathy With Perimysial Pathology Associated With Interstitial Lung Disease and Anti-EJ Antibodies.
    J Clin Neuromuscul Dis 2017 Jun;18(4):223-227
    *Neuromuscular Division, Department of Neurology, Icahn School of Medicine at Mount Sinai, New York, NY; and †Division of Rheumatology, Department of Medicine, Icahn School of Medicine at Mount Sinai, New York, NY.
    Objectives: We report a case of immune myopathy with perimysial pathology associated with anti-glycyl-transfer RNA synthetase (anti-EJ) antibody and an excellent treatment response.

    Methods: Chart review.

    Results: A 36-year-old woman presented with 3 months of fatigue, weight loss, progressive weakness in a scapuloperoneal distribution, and dysphagia. Read More

    Serum levels of adipokines in patients with idiopathic inflammatory myopathies: a pilot study.
    Rheumatol Int 2017 May 23. Epub 2017 May 23.
    Department of Immunology, Instituto Nacional de Cardiología Ignacio Chávez, Mexico City, Mexico.
    Adipokines are cytokines not only regulating metabolic and endocrine activities, but also modulating inflammatory and immune responses in several clinical settings, including autoimmunity. This study was aimed to evaluate whether serum adipokine levels may be useful as markers of disease activity in patients with idiopathic inflammatory myopathies (IIM). Adiponectin, leptin, chemokine C-C motif ligand-2 (CCL2), interleukin (IL)-6, and tumor necrosis factor (TNF) were measured in the serum of all participants. Read More

    Repression of phosphatidylinositol transfer protein α ameliorates the pathology of Duchenne muscular dystrophy.
    Proc Natl Acad Sci U S A 2017 May 22. Epub 2017 May 22.
    Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA 02115;
    Duchenne muscular dystrophy (DMD) is a progressive muscle wasting disease caused by X-linked inherited mutations in the DYSTROPHIN (DMD) gene. Absence of dystrophin protein from the sarcolemma causes severe muscle degeneration, fibrosis, and inflammation, ultimately leading to cardiorespiratory failure and premature death. Although there are several promising strategies under investigation to restore dystrophin protein expression, there is currently no cure for DMD, and identification of genetic modifiers as potential targets represents an alternative therapeutic strategy. Read More

    ACE-2/Ang1-7/Mas cascade mediates ACE inhibitor, captopril, protective effects in estrogen-deficient osteoporotic rats.
    Biomed Pharmacother 2017 May 19;92:58-68. Epub 2017 May 19.
    Department of Pharmacology and Toxicology, College of Pharmacy, King Saud University, Riyadh, Saudi Arabia.
    The local role of the renin angiotensin system (RAS) was documented recently beside its conventional systemic functions. Studies showed that the effector angiotensin II (AngII) alters bone health, while inhibition of the angiotensin converting enzyme (ACE-1) preserved these effects. The newly identified Ang1-7 exerts numerous beneficial effects opposing the AngII. Read More

    Clinical assessment underestimates fat mass and overestimates resting energy expenditure in children with neuromuscular diseases.
    Clin Nutr ESPEN 2016 Oct 1;15:11-15. Epub 2016 Jun 1.
    Pediatrics Division, Faculty of Medicine, Pontificia Universidad Católica de Chile, Chile.
    Background: Nutritional problems are frequent among patients with neuromuscular diseases, who consequently need an adequate evaluation.

    Objective: to describe nutritional assessment and to estimate and measure body composition and energy requirement in children with neuromuscular diseases.

    Subjects And Methods: We performed anthropometry, skinfold measurement and bioelectric impedance analysis (BIA) for estimate and measure, respectively, fat mass (FM). Read More

    Skeletal Muscle Cell Induction from Pluripotent Stem Cells.
    Stem Cells Int 2017 26;2017:1376151. Epub 2017 Apr 26.
    Stem Cell Institute, University of Minnesota Medical School, Minneapolis, MN 55455, USA.
    Embryonic stem cells (ESCs) and induced pluripotent stem cells (iPSCs) have the potential to differentiate into various types of cells including skeletal muscle cells. The approach of converting ESCs/iPSCs into skeletal muscle cells offers hope for patients afflicted with the skeletal muscle diseases such as the Duchenne muscular dystrophy (DMD). Patient-derived iPSCs are an especially ideal cell source to obtain an unlimited number of myogenic cells that escape immune rejection after engraftment. Read More

    Physiology and Pharmacology of Ryanodine Receptor Calcium Release Channels.
    Adv Pharmacol 2017 22;79:287-324. Epub 2017 Feb 22.
    John Curtin School of Medical Research, Australian National University, Canberra, ACT, Australia.
    Ryanodine receptor (RyR) ion channels are essential for skeletal and cardiac muscle function. Their knockout leads to perinatal death from respiratory and cardiac failure. Acquired changes or mutations in the protein cause debilitating skeletal myopathy and cardiac arrhythmia which can be deadly. Read More

    Effects of interactive metronome training on upper extremity function, ADL and QOL in stroke patients.
    NeuroRehabilitation 2017 May 19. Epub 2017 May 19.
    Department of Occupational Therapy, Konyang University, Daejeon, Republic of Korea.
    Background: Rhythm and timing training is stimulation that substitutes for a damaged function controls muscular movement or temporal element, which has positive impacts on the neurological aspect and movement of the brain.

    Objective: This study is to assess the changes caused by rhythm and timing training using an interactive metronome (IM) on upper extremity function, ADL and QOL in stroke patients.

    Methods: In order to assess the effects of IM training, a group experiment was conducted on 30 stroke patients. Read More

    3-Methylglutaconic aciduria, a frequent but underrecognized finding in carbamoyl phosphate synthetase I deficiency.
    Clin Chim Acta 2017 May 17;471:95-100. Epub 2017 May 17.
    Department of Human Genetics, Technical University Munich, Munich, Germany; Institute of Human Genetics, Helmholtz Zentrum, Neuherberg, Germany; Department of Pediatrics, Salzburger Landeskliniken (SALK) and Paracelsus Medical University (PMU), Salzburg, Austria. Electronic address:
    The urea cycle disorder carbamoyl phosphate synthetase I deficiency is an important differential diagnosis in the encephalopathic neonate. This intoxication type inborn error of metabolism often leads to neonatal death or severe and irreversible damage of the central nervous system, even despite appropriate treatment. Timely diagnosis is crucial, but can be difficult on routine metabolite level. Read More

    [Direct mechanism of action in toxic myopathies].
    Ann Pharm Fr 2017 May 16. Epub 2017 May 16.
    Service de toxicologie, CHU Bab-El-Oued, rue Mohamed-Lamine-Debaghine, 16009 Alger, Algérie; Centre national de toxicologie, route du Petit-Staouali-Delly-Brahim, 16062 Alger, Algérie.
    Toxic myopathies are a large group of disorders generated by surrounding agents and characterized by structural and/or functional disturbances of muscles. The most recurrent are those induced by commonly used medications. Illicit drugs, environmental toxins from animals, vegetables, or produced by micro-organisms as well as chemical products commonly used are significant causes of such disorders. Read More

    The golden retriever model of Duchenne muscular dystrophy.
    Skelet Muscle 2017 May 19;7(1). Epub 2017 May 19.
    Department of Veterinary Integrative Biosciences, College of Veterinary Medicine and Biomedical Sciences, Texas A&M University, Mail Stop 4458, College Station, TX, 77843-4458, USA.
    Duchenne muscular dystrophy (DMD) is an X-linked disease caused by mutations in the DMD gene and loss of the protein dystrophin. The absence of dystrophin leads to myofiber membrane fragility and necrosis, with eventual muscle atrophy and contractures. Affected boys typically die in their second or third decade due to either respiratory failure or cardiomyopathy. Read More

    Idiopathic Inflammatory Myopathies: A Review of the Classification and Impact of Pathogenesis.
    Int J Mol Sci 2017 May 18;18(5). Epub 2017 May 18.
    Department of Medicine, Division of Rheumatic Diseases, Case Western Reserve University School of Medicine and University Hospitals Cleveland Medical Center, Cleveland, OH 44106-5076, USA.
    Idiopathic inflammatory myopathies (IIMs) are a group of autoimmune muscle diseases with significant morbidity and mortality. This review details and updates the pathogenesis and emerging importance of myositis-specific antibodies in the development of IIMs. An increase in the understanding of how these myositis-specific antibodies play a role in IIMs has led to the further categorization of IIMs from the traditional polymyositis versus dermatomyositis, to additional subcategories of IIMs such as necrotizing autoimmune myositis (NAM). Read More

    ["Therapy-resistant polymyositis" - is the diagnosis correct?]
    Z Rheumatol 2017 May 18. Epub 2017 May 18.
    Klinik und Poliklinik für Neurologie, Universitätsklinikum Köln, Kerpener Str. 62, 50937, Köln, Deutschland.
    We report the case of a 32-year-old woman with severely elevated serum creatine kinase (CK; 80,000 U/l) and progressive proximal pareses. As muscular biopsy showed inflammatory infiltrates, polymyositis was suspected and immunosuppressive treatment was initiated. However, clinical improvement could not be achieved. Read More

    Discovery of a new mutation in the desmin gene in a young patient with cardiomyopathy and muscular weakness.
    Rom J Morphol Embryol 2017 ;58(1):225-230
    Department of Cardiology, "Prof. Dr. C. C. Iliescu" Institute of Emergency for Cardiovascular Diseases, "Carol Davila" University of Medicine and Pharmacy, Bucharest, Romania;
    A 25-year-old woman with a five years history of syncope, mild left ventricular hypertrophy and moderately enlarged atria, was diagnosed with third degree atrioventricular heart block alternating with atrioventricular heart block 2:1, and received a dual chamber pacemaker. After three years of evolution, she developed atrial fibrillation, marked biatrial enlargement, severely depressed longitudinal myocardial velocities, associated with mild girdle weakness and slight increase in creatine kinase level. The diagnosis of restrictive cardiomyopathy with mild skeletal myopathy imposed the screening for a common etiology. Read More

    MotomiRs: miRNAs in Motor Neuron Function and Disease.
    Front Mol Neurosci 2017 4;10:127. Epub 2017 May 4.
    Molecular Medicine Group, Robarts Research Institute, Schulich School of Medicine and Dentistry, Western UniversityLondon, ON, Canada.
    MiRNAs are key regulators of the mammalian transcriptome that have been increasingly linked to degenerative diseases of the motor neurons. Although many of the miRNAs currently incriminated as participants in the pathogenesis of these diseases are also important to the normal development and function of motor neurons, at present there is no knowledge of the complete miRNA profile of motor neurons. In this review, we examine the current understanding with respect to miRNAs that are specifically required for motor neuron development, function and viability, and provide evidence that these should be considered as a functional network of miRNAs which we have collectively termed MotomiRs. Read More

    Satellite cell-mediated breast muscle regeneration decreases with broiler size.
    Poult Sci 2017 May 17. Epub 2017 May 17.
    Satellite cells (SCs) reside between the sarcolemma and basal lamina of muscle fibers and are the primary contributor of DNA for post-hatch muscle growth and repair. Alterations in SC content or properties by intrinsic and extrinsic factors can have detrimental effects on muscle health and function, and ultimately meat quality. We hypothesized that disrupted SC homeostasis may account in part for the increased breast myopathies observed in growing broilers. Read More

    ALS skeletal muscle shows enhanced TGF-β signaling, fibrosis and induction of fibro/adipogenic progenitor markers.
    PLoS One 2017 16;12(5):e0177649. Epub 2017 May 16.
    Centro de Envejecimiento y Regeneración, CARE Chile UC y Departamento de Biología Celular y Molecular, Facultad de Ciencias Biológicas, Pontificia Universidad Católica de Chile, Santiago, Chile.
    Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease in which upper and lower motoneurons degenerate leading to muscle wasting, paralysis and eventually death from respiratory failure. Several studies indicate that skeletal muscle contributes to disease progression; however the molecular mechanisms remain elusive. Fibrosis is a common feature in skeletal muscle under chronic damage conditions such as those caused by muscular dystrophies or denervation. Read More

    A diffusion-weighted imaging informed continuum model of the rabbit triceps surae complex.
    Biomech Model Mechanobiol 2017 May 18. Epub 2017 May 18.
    Auckland Bioengineering Institute, University of Auckland, Auckland, New Zealand.
    The NZ white rabbit is the animal of choice for much experimental work due to its muscular frame and similar response to human diseases, and is one of the few mammals that have had their genome sequenced. However, continuum-level computational models of rabbit muscle detailing fibre architecture are limited in the literature, especially the triceps surae complex (gastrocnemius, plantaris and soleus), which has similar biomechanics and translatable findings to the human. This study presents a geometrical model of the rabbit triceps surae informed with diffusion-weighted imaging (DWI)-based fibres. Read More

    Functional interaction between FUS and SMN underlies SMA-like splicing changes in wild-type hFUS mice.
    Sci Rep 2017 May 17;7(1):2033. Epub 2017 May 17.
    Istituto di Farmacologia Traslazionale (IFT), CNR, 00133, Rome, Italy.
    Several of the identified genetic factors in Amyotrophic Lateral Sclerosis (ALS) point to dysfunction in RNA processing as a major pathogenic mechanism. However, whether a precise RNA pathway is particularly affected remains unknown. Evidence suggests that FUS, that is mutated in familial ALS, and SMN, the causative factor in Spinal Muscular Atrophy (SMA), cooperate to the same molecular pathway, i. Read More

    The nuclear pore protein Nup153 associates with chromatin and regulates cardiac gene expression in dystrophic mdx hearts.
    Cardiovasc Res 2016 Nov;112(2):555-567
    Institute of Cell Biology and Neurobiology, National Research Council, Rome 00143, Italy.
    Aims: Beyond the control of nuclear-cytoplasmic trafficking nucleoporins regulate gene expression and are involved in cardiac diseases. Notably, a number of cardiovascular disorders have been linked to alterations in epigenetic mechanisms. Here we aimed to determine the contribution of Nup153 to the epigenetic alterations occurring in cardiomyopathy of dystrophin-deficient mdx mice (C57BL/10ScSn-Dmd mdx /J). Read More

    Cofilin - a protein controlling dynamics of actin filaments.
    Postepy Hig Med Dosw (Online) 2017 May 5;71(0):339-351. Epub 2017 May 5.
    Zakład Biochemii i Biologii Komórki, Wydział Nauk Przyrodniczych, Uniwersytet Kazimierza Wielkiego w Bydgoszczy.
    Cofilins are evolutionary conserved proteins present in all Eukaryotic cells. Their primary function is dynamic reorganization of actin cytoskeleton. Two cofilin isoforms are known: cofilin 1, present in all studied non-muscle cells and in embryonic muscle cells, and cofilin 2, which dominates in mature skeletal and cardiac muscles. Read More

    An Ambulatory Electroencephalography System for Freely Moving Horses: An Innovating Approach.
    Front Vet Sci 2017 2;4:57. Epub 2017 May 2.
    Université de Rennes 1, CNRS UMR 6552 - Ethologie Animale et Humaine EthoS, Rennes Cedex, France.
    Electroencephalography (EEG) that has been extensively studied in humans presents also a large interest for studies on animal brain processes. However, since the quality of the recordings is altered by muscular activity, most EEG recordings on animals are obtained using invasive methods with deeply implanted electrodes. This requires anesthesia and can thus only be used in laboratory or clinical settings. Read More

    Altered ionic currents and amelioration by IGF-1 and PACAP in motoneuron-derived cells modelling SBMA.
    Biophys Chem 2017 May 10. Epub 2017 May 10.
    Institute of Biophysics (IBF), Trento Unit, National Research Council (CNR), Via alla Cascata 56/C, 38123 Trento, Italy & Bruno Kessler Foundation (FBK), LabSSAH, Via alla Cascata 56/C, 38123 Trento, Italy. Electronic address:
    Spinal and bulbar muscular atrophy (SBMA), also known as Kennedy's disease, is a motor neuron disease caused by the expansion of a polymorphic CAG tandem repeat encoding a polyglutamine (polyQ) tract in the androgen receptor (AR) gene. SBMA is triggered by the binding of mutant AR to its natural ligands, testosterone and dihydrotestosterone (DHT). To investigate the neuronal alterations of motor neuron cell models of SBMA, we applied patch-clamp methods to verify how polyQ expansions in the AR alter cell ionic currents. Read More

    A Systematic Review and Meta-Analysis of Prevalence Studies of Sporadic Inclusion Body Myositis.
    J Neuromuscul Dis 2017 May 6. Epub 2017 May 6.
    Institute of Immunology and Infectious Diseases, Murdoch University, Murdoch, WA, Australia.
    Background: Sporadic Inclusion Body Myositis (sIBM) is a rare and slowly progressive debilitating muscle disease with symptoms generally developing≥50 years of age.

    Objective: To conduct a systematic review and meta-analysis of the prevalence of sIBM literature, including a methodological quality assessment of the selected papers.

    Methods: A systematic search of Medline, Embase, Cochrane Database of Systematic Reviews and major Myositis and Neurological conferences was conducted. Read More

    Reduced sensory synaptic excitation impairs motor neuron function via Kv2.1 in spinal muscular atrophy.
    Nat Neurosci 2017 May 15. Epub 2017 May 15.
    Center for Motor Neuron Biology and Disease, Columbia University, New York, New York, USA.
    Behavioral deficits in neurodegenerative diseases are often attributed to the selective dysfunction of vulnerable neurons via cell-autonomous mechanisms. Although vulnerable neurons are embedded in neuronal circuits, the contributions of their synaptic partners to disease process are largely unknown. Here we show that, in a mouse model of spinal muscular atrophy (SMA), a reduction in proprioceptive synaptic drive leads to motor neuron dysfunction and motor behavior impairments. Read More

    MRI in neutral lipid storage disease (NLSD).
    J Neurol 2017 May 13. Epub 2017 May 13.
    Department of Neurology, San Filippo Neri Hospital, Rome, Italy.
    Neutral lipid storage disease (NLSD) is a rare inherited disorder of lipid metabolism resulting in lipid droplets accumulation in different tissues. Skeletal muscle could be affected in both two different form of disease: NLSD with myopathy (NLSD-M) and NLSD with ichthyosis (NLSD-I). We present the muscle imaging data of 12 patients from the Italian Network for NLSD: ten patients presenting NLSD-M and two patients with NLSD-I. Read More

    Severe cervical flexion myelopathy with long tract signs: a case report and a review of literature.
    Spinal Cord Ser Cases 2017 11;3:17016. Epub 2017 May 11.
    Department of Orthopedic Surgery, Osaka Minami Medical center, Osaka, Japan.
    Introduction: Hirayama disease, a type of cervical flexion myelopathy, is a rare neurological disease characterized by muscular atrophy of the forearms and hands. Generally, the pathology is limited to the gray matter of the anterior horns in the lower cervical spinal cord. However, in rare cases the damage can spread to the white matter and present as long tract signs. Read More

    Limb-Girdle Muscular Dystrophy 2B and Miyoshi Presentations of Dysferlinopathy.
    Am J Med Sci 2017 May 30;353(5):484-491. Epub 2016 May 30.
    Division of Rheumatology, Louisiana State University Health Science Center, New Orleans, Louisiana.
    We report the following 2 subtypes of progressive limb-girdle dystrophy type 2B: limb-girdle muscular dystrophy type 2B (LGMD2B) and Miyoshi. The first patient described had weakness in the anterior thigh muscles (LGMD2B) and the second patient had calf muscle weakness and atrophy (Miyoshi). Literature review was performed and LGMD2B was compared and distinguished from other myopathies of similar nature. Read More

    Aerobic fitness, muscular strength and obesity in relation to risk of heart failure.
    Heart 2017 May 12. Epub 2017 May 12.
    Center for Primary Health Care Research, Lund University, Malmö, Sweden.
    Objective: Low physical fitness and obesity have been associated with higher risk of developing heart failure (HF), but their interactive effects are unknown. Elucidation of interactions among these common modifiable factors may help facilitate more effective primary prevention.

    Methods: We conducted a national cohort study to examine the interactive effects of aerobic fitness, muscular strength and body mass index (BMI) among 1 330 610 military conscripts in Sweden during 1969-1997 (97%-98% of all 18-year-old men) on risk of HF identified from inpatient and outpatient diagnoses through 2012 (maximum age 62 years). Read More

    Recent advances in epilepsy genetics.
    Neurosci Lett 2017 May 10. Epub 2017 May 10.
    Pediatric Neurology and Muscular Diseases Unit, Department of Neurosciences, Rehabilitation, Ophtalmology, Genetics, Maternal and Child Health, Institute "G. Gaslini" University of Genova, Genoa, Italy, Italy.
    In last few years there has been rapid increase in the knowledge of epilepsy genetics. Nowadays, it is estimated that genetic epilepsies include over than 30% of all epilepsy syndromes. Several genetic tests are now available for diagnostic purposes in clinical practice. Read More

    Ca(2+) Release Channels Join the 'Resolution Revolution'.
    Trends Biochem Sci 2017 May 9. Epub 2017 May 9.
    Department of Physiology and Cellular Biophysics, College of Physicians and Surgeons, Columbia University, New York, NY 10032, USA; Department of Medicine, College of Physicians and Surgeons, Columbia University, New York, NY 10032, USA; Wu Center for Molecular Cardiology, College of Physicians and Surgeons, Columbia University, New York, NY 10032, USA. Electronic address:
    Ryanodine receptors (RyRs) are calcium release channels expressed in the sarcoendoplasmic reticula of many cell types including cardiac and skeletal muscle cells. In recent years Ca(2+) leak through RyRs has been implicated as a major contributor to the development of diseases including heart failure, muscle myopathies, Alzheimer's disease, and diabetes, making it an important therapeutic target. Recent mammalian RyR1 cryoelectron microscopy (cryo-EM) structures of multiple functional states have clarified longstanding questions including the architecture of the transmembrane (TM) pore and cytoplasmic domains, the location and architecture of the channel gate, ligand-binding sites, and the gating mechanism. Read More

    Notch ligands regulate the muscle stem-like state ex vivo but are not sufficient for retaining regenerative capacity.
    PLoS One 2017 12;12(5):e0177516. Epub 2017 May 12.
    Laboratory of Molecular and Cellular Physiology, Graduate School of Pharmaceutical Sciences, Osaka University, Osaka, Japan.
    Myogenic stem cells are a promising avenue for the treatment of muscular disorders. Freshly isolated muscle stem cells have a remarkable engraftment ability in vivo, but their cell number is limited. Current conventional culture conditions do not allow muscle stem cells to expand in vitro with their bona fide engraftment efficiency, requiring the improvement of culture procedures for achieving successful cell-therapy for muscle disorders. Read More

    Deep intronic variants introduce DMD pseudoexon in patient with muscular dystrophy.
    Neuromuscul Disord 2017 Apr 7. Epub 2017 Apr 7.
    Department of Human Genetics, University of Würzburg, Biozentrum Am Hubland, 97074 Würzburg, Germany.
    Dystrophinopathies are X-linked muscle diseases caused by mutations in the large DMD gene. The most common mutations are detected by standard diagnostic techniques. However, some patients remain without detectable mutation, most likely due to changes in the non-coding sequence. Read More

    Not only dominant, not only optic atrophy: expanding the clinical spectrum associated with OPA1 mutations.
    Orphanet J Rare Dis 2017 May 12;12(1):89. Epub 2017 May 12.
    Unit of Molecular Neurogenetics, Fondazione IRCCS Istituto Neurologico 'Carlo Besta', via Temolo 4, 20126, Milan, Italy.
    Background: Heterozygous mutations in OPA1 are a common cause of autosomal dominant optic atrophy, sometimes associated with extra-ocular manifestations. Few cases harboring compound heterozygous OPA1 mutations have been described manifesting complex neurodegenerative disorders in addition to optic atrophy.

    Results: We report here three patients: one boy showing an early-onset mitochondrial disorder with hypotonia, ataxia and neuropathy that was severely progressive, leading to early death because of multiorgan failure; two unrelated sporadic girls manifesting a spastic ataxic syndrome associated with peripheral neuropathy and, only in one, optic atrophy. Read More

    Skeletal muscle metabolism during prolonged exercise in Pompe disease.
    Endocr Connect 2017 May 10. Epub 2017 May 10.
    J Vissing, Dept. of Neurology, Copenhagen Neuromuscular Center, 3342, Copenhagen, Denmark.
    Objective: Pompe disease (glycogenosis type II) is caused by lysosomal alpha-glucosidase deficiency, which leads to a block in intra-lysosomal glycogen breakdown. In spite of enzyme replacement therapy, Pompe disease continues to be a progressive metabolic myopathy. Considering the health benefits of exercise, it is important in Pompe disease to acquire more information about muscle substrate use during exercise. Read More

    Kennedy disease with difficulty in differential diagnosis: A case report.
    Medicine (Baltimore) 2017 May;96(19):e6792
    Department of Neurology, Zhujiang Hospital of Southern Medical University, Guangzhou, China.
    Rationale: Kennedy disease (KD) is also known as spinal bulbar muscular dystrophy. As KD has similar symptoms with most neuromuscular diseases, so it is difficult to make a rapid diagnosis clinically.

    Patient Concerns: We report a case of a 43-year-old male with progressive limb proximal weakness without family history. Read More

    Acute muscular weakness in children.
    Arq Neuropsiquiatr 2017 Apr;75(4):248-254
    Hospital Luis Calvo Mackenna, Provencia, Santiago, Chile.
    Acute muscle weakness in children is a pediatric emergency. During the diagnostic approach, it is crucial to obtain a detailed case history, including: onset of weakness, history of associated febrile states, ingestion of toxic substances/toxins, immunizations, and family history. Neurological examination must be meticulous as well. Read More

    Master and commander? FoxO's role in muscle atrophy.
    J Physiol 2017 May 10. Epub 2017 May 10.
    Muscle Research Unit, Experimental and Clinical Research centre, a Joint Cooperation between Max-Delbrück-centre for Molecular Medicine and Charité Medical Faculty, Berlin, Germany.
    Skeletal muscle atrophy is a primary clinical symptom associated with many diseases such as cachexia, sarcopenia, diabetes, neurodegenerative disorders and myopathies. This article is protected by copyright. All rights reserved. Read More

    Management of cardiac involvement in muscular dystrophies: paediatric versus adult forms.
    Acta Myol 2016 Dec;35(3):128-134
    Cardiomyology and Medical Genetics, Department of Experimental Medicine.
    Muscular dystrophies are a group of genetic disorders characterized by muscle degeneration and consequent substitution by fat and fibrous tissue. Cardiac involvement is an almost constant feature in a great part of these diseases, as both primary myocardial involvement and secondary involvement due to respiratory insufficiency, pulmonary hypertension or reduced mobility. Primary myocardial involvement usually begins more precociously compared to the secondary involvement. Read More

    Brains and Brawn: Toxoplasma Infections of the Central Nervous System and Skeletal Muscle.
    Trends Parasitol 2017 May 5. Epub 2017 May 5.
    Division of Biomedical Sciences, School of Medicine, University of California, Riverside, Riverside, CA, USA. Electronic address:
    Toxoplasma gondii is a widespread parasitic pathogen that infects over a third of the world's population. Following an acute infection, the parasite can persist within its mammalian host as intraneuronal or intramuscular cysts. Cysts will occasionally reactivate, and - depending on the host's immune status and site of reactivation - encephalitis or myositis can develop. Read More

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