Search Our Scientific Publications & Authors

PLoS One 2018 6;13(12):e0207406. Epub 2018 Dec 6.

Tropical and Infectious Diseases Department, Centre Hospitalier Andrée Rosemon, Cayenne, French Guiana.

Background: French Guiana (FG) was the first country in South America to declare chikungunya virus infection (CHIKV). The outbreak affected about 16,000 persons between February 2014 and October 2015, with several atypical cases, but only two fatal cases. We aimed to describe the clinical presentation of patients hospitalized for CHIKV infection, to estimate and identify risk factors of unusual and severe forms in adult patients. Read More

Rheumatol Int 2018 Dec 5. Epub 2018 Dec 5.

Division of Rheumatology, Faculdade de Medicina FMUSP, Universidade de Sao Paulo, Sao Paulo, SP, Brazil.

Recent studies have shown a high prevalence of dyslipidemia in patients with systemic autoimmune myopathies (SAM). However, little is known about the safety of the use of statins in these patients, and this gap in research motivated the accomplishment of the present study. In a retrospective cohort study conducted from 2004 to 2018, 250 patients with SAM were evaluated, and 24 patients had stable forms of SAM (16 dermatomyositis, 1 polymyositis and 7 antisynthetase syndrome) but had dyslipidemia and had received statins. Read More

JCI Insight 2018 Dec 6;3(23). Epub 2018 Dec 6.

Department of Molecular Microbiology and Immunology, School of Medicine, University of Missouri, Columbia, Missouri, USA.

Adeno-associated virus-mediated (AAV-mediated) CRISPR editing is a revolutionary approach for treating inherited diseases. Sustained, often life-long mutation correction is required for treating these diseases. Unfortunately, this has never been demonstrated with AAV CRISPR therapy. Read More

J Child Neurol 2018 Dec 5:883073818811544. Epub 2018 Dec 5.

1 Ersta Sköndal Bräcke University College, Department of Health Care Sciences, Palliative Research Centre, Stockholm, Sweden.

Background And Aims:: Children with severe spinal muscular atrophy have complex care needs due to progressive muscle weakness, eventually leading to respiratory failure. To design a care system adapted to families' needs, more knowledge about parents' experience of care and its coordination between settings is required. This study explores (1) whether parents felt that health professionals took every opportunity to help the child feel as good as possible, (2) parents' satisfaction with various care settings, and (3) parents' satisfaction with coordination between settings. Read More

Brain Sci 2018 Dec 4;8(12). Epub 2018 Dec 4.

School of Medicine, Keele University, Staffordshire ST5 5BG, UK.

Unravelling the complex molecular pathways responsible for motor neuron degeneration in amyotrophic lateral sclerosis (ALS) and spinal muscular atrophy (SMA) remains a persistent challenge. Interest is growing in the potential molecular similarities between these two diseases, with the hope of better understanding disease pathology for the guidance of therapeutic development. The aim of this study was to conduct a comparative analysis of published proteomic studies of ALS and SMA, seeking commonly dysregulated molecules to be prioritized as future therapeutic targets. Read More

Cell Calcium 2018 Nov 27;77:20-28. Epub 2018 Nov 27.

Department of Medicine, Duke University School of Medicine, Durham, NC, United States.

Store operated Ca entry (SOCE) is an ancient and ubiquitous Ca signaling pathway discovered decades ago, but the function of SOCE in human physiology is only now being revealed. The relevance of this pathway to striated muscle was solidified with the description of skeletal myopathies that result from mutations in STIM1 and Orai1, the two SOCE components. Here, we consider the evidence for STIM1 and SOCE in cardiac muscle and the sinoatrial node. Read More

Stem Cells Transl Med 2018 Dec 1. Epub 2018 Dec 1.

Axe Neurosciences, Research Center of the CHU de Quebec-CHUL, Quebec, Canada.

Reumatologia 2018 31;56(5):307-315. Epub 2018 Oct 31.

Department of Systemic Connective Tissue Diseases, National Institute of Geriatrics, Rheumatology, and Rehabilitation, Warsaw, Poland.

Despite its misleading adjective, the most commonly used diagnostic criteria of idiopathic inflammatory myopathies (IIM) are applicable only after all other non-autoimmune muscle diseases have been excluded. It makes differential diagnosis the first step when approaching a patient with muscle weakness. This article is designed to list the most common conditions from which to differentiate in rheumatological care. Read More

Nitric Oxide 2018 Nov 29. Epub 2018 Nov 29.

Department of Molecular and Cellular Pharmacology, University of Miami Miller School of Medicine Miami, Florida, 33101, USA. Electronic address:

Defects in neuronal nitric oxide synthase (nNOS) splice variant localization and signaling in skeletal muscle are a firmly established pathogenic characteristic of many neuromuscular diseases, including Duchenne and Becker muscular dystrophy (DMD and BMD, respectively). Therefore, substantial efforts have been made to understand and therapeutically target skeletal muscle nNOS isoform signaling. The purpose of this review is to summarize recent salient advances in understanding of the regulation, targeting, and function of nNOSμ and nNOSβ splice variants in normal and dystrophic skeletal muscle, primarily using findings from mouse models. Read More

Intern Med J 2018 Dec;48(12):1520-1524

Sleep Disorders Centre, The Prince Charles Hospital, Brisbane, Queensland, Australia.

Patients with neuromuscular diseases benefit from coordinated multidisciplinary care to achieve best outcomes. The integration of multi-specialty healthcare delivered in a single clinic can be challenging for service providers due to cost and resource limitation. Our cross-sectional survey of 53 adult patients with neuromuscular disease across Queensland revealed only 27% support the introduction of an integrated multidisciplinary clinic. Read More

PLoS One 2018 5;13(12):e0207296. Epub 2018 Dec 5.

Genomic Unit, Health Research Institute Hospital La Fe (IIS La Fe), Valencia, Spain.

Nemaline Myopathy (NM) is a rare genetic disorder that encompasses a large spectrum of myopathies characterized by hypotonia and generalized muscle weakness. To date, mutations in thirteen different genes have been associated with NM. The most frequently responsible genes are NEB (50% of cases) and ACTA1 (15-25% of cases). Read More

Mol Immunol 2018 Dec 1;105:165-172. Epub 2018 Dec 1.

Department of Neurology, The First Affiliated Hospital of Zhengzhou University, China. Electronic address:

Background: Idiopathic inflammatory myopathies (IIM) are a group of autoimmune diseases characterized by muscle disorders. We conducted this study to detect whether NF-E2-related factor 2 (Nrf2) pathway inhibit inflammatory infiltration by macrophage in experimental autoimmune myositis (EAM) rat model.

Methods: CD163 levels were examined by immunohistochemistry (IHC), while serum creatine kinase (CK), reactive oxygen species (ROS), and serum monocyte chemoattractant protein-1 (MCP-1), tumor necrosis factor-α (TNF-α), interleukin-6 (IL-6) levels were determined by enzyme linked immunosorbnent assay (ELISA), both in IIM patients and EAM rat. Read More

Ned Tijdschr Geneeskd 2018 11 27;162. Epub 2018 Nov 27.

Universitaire Ziekenhuizen Leuven, afd. Algemene Interne Geneeskunde, België.

The antisynthetase syndrome (AS) is a rare auto-immune disease characterised by inflammatory myopathies, interstitial lung disease, inflammatory arthritis, Mechanic's Hands and Raynaud phenomenon. AS infrequently presents with life-threatening lung disease as its primary or sole manifestation. By means of two clinical case reports, an overview is given of recent advances in diagnosis and treatment of AS-related interstitial lung disease. Read More

J Cachexia Sarcopenia Muscle 2018 Nov 30. Epub 2018 Nov 30.

Department of Experimental Medicine, University of Perugia, Perugia, 06132, Italy.

Primary sarcopenia is a condition of reduced skeletal muscle mass and strength, reduced agility, and increased fatigability and risk of bone fractures characteristic of aged, otherwise healthy people. The pathogenesis of primary sarcopenia is not completely understood. Herein, we review the essentials of the cellular and molecular mechanisms of skeletal mass maintenance; the alterations of myofiber metabolism and deranged properties of muscle satellite cells (the adult stem cells of skeletal muscles) that underpin the pathophysiology of primary sarcopenia; the role of the Ca -sensor protein, S100B, as an intracellular factor and an extracellular signal regulating cell functions; and the functional role of S100B in muscle tissue. Read More

Rheumatology (Oxford) 2018 Nov 28. Epub 2018 Nov 28.

Rheumatology Department, Salford Royal NHS Foundation Trust, Manchester Academic Health Science Centre, Salford.

Objectives: To assess the performance of the EULAR/ACR idiopathic inflammatory myopathies (IIMs) classification criteria in a cohort of incident IIM cases and examine how criteria-assigned IIM subtype correlates with expert opinion.

Methods: Adults with newly diagnosed IIM attending Salford Royal NHS Foundation Trust were identified over a 10 year period. A retrospective review of all putative cases was performed and those fulfilling a consensus expert opinion diagnosis of IIM were included. Read More

J Small Anim Pract 2018 Nov 28. Epub 2018 Nov 28.

Santa Cruz Veterinary Hospital, Santa Cruz, California 95065, USA.

To describe the clinical features and treatment of a cat that was initially presented with fibrotic myopathy affecting the left tensor fascia lata. Approximately 5 months later, the cat was presented again with multiple idiopathic fibrotic myopathies, affecting the ipsilateral rectus femoris and the contralateral semitendinosus muscles. These were each separate lesions and occurred without known history of trauma. Read More

Nat Commun 2018 Nov 28;9(1):5026. Epub 2018 Nov 28.

Division of Genetics and Cell Biology, IRCCS San Raffaele Scientific Institute, via Olgettina 60, Milano, 20132, Italy.

Myoblast fusion (MF) is required for muscle growth and repair, and its alteration contributes to muscle diseases. The mechanisms governing this process are incompletely understood, and no epigenetic regulator has been previously described. Ash1L is an epigenetic activator belonging to the Trithorax group of proteins and is involved in FSHD muscular dystrophy, autism and cancer. Read More

Expert Opin Emerg Drugs 2018 Nov 27. Epub 2018 Nov 27.

d Neurology Unit, S. Anna Hospital , Como , Italy.

Introduction: Dravet syndrome (DS) is an early-onset genetic developmental epileptic encephalopathy characterized by multiple seizure types which are refractory to antiseizure medication. There is an unmet need for effective and tolerable drugs to control different seizure types in DS types, with the aim of improving quality of life and preventing neurological impairment. Areas covered: Narrative review of efficacy and tolerability of fenfluramine, cannabidiol (CBD), verapamil and modulators of serotonin signaling pathways (lorcaserin or trazodone) in the treatment of DS. Read More

Ann Clin Transl Neurol 2018 Nov 14;5(11):1385-1393. Epub 2018 Oct 14.

Department of Neuropathology Charité - Universitätsmedizin Berlin, corporate member of Freie Universität Berlin, Humboldt-Universität zu Berlin, and Berlin Institute of Health Berlin Germany.

Objective: The neuronal ceroid lipofuscinoses (NCL) are genetic degenerative disorders of brain and retina. NCL with juvenile onset (JNCL) is genetically heterogeneous but most frequently caused by mutations of CLN3. Classical juvenile CLN3 includes a rare protracted form, which has previously been linked to autophagic vacuolar myopathy (AVM). Read More

Expert Rev Neurother 2018 Dec 27;18(12):933-943. Epub 2018 Nov 27.

a Krankenanstalt Rudolfstiftung, Messerli Institute , Veterinary University of Vienna , Vienna , Austria.

Introduction: Metabolic myopathies are a heterogeneous group of disorders characterized by inherited defects of enzymatic pathways involved in muscle fiber energetics. Diagnosing metabolic myopathies requires a thoroughly taken individual and family history, a meticulous neurologic exam, exercise tests, blood and urine tests, needle-electromyography, nerve-conduction studies, muscle biopsy, targeted genetic tests, or next-generation sequencing. There is limited evidence from the literature to guide treatment of metabolic myopathies. Read More

J Clin Med 2018 Nov 23;7(12). Epub 2018 Nov 23.

Unit of Neuromuscular Diseases, Department of Neurology, Mental Health and Sensory Organs (NESMOS), SAPIENZA University of Rome, Sant' Andrea Hospital, 00189 Rome, Italy.

Disorders of lipid metabolism affect several tissues, including skeletal and cardiac muscle tissues. Lipid myopathies (LM) are rare multi-systemic diseases, which most often are due to genetic defects. Clinically, LM can have acute or chronic clinical presentation. Read More

Eur J Public Health 2018 Dec;28(suppl_5):38-47

National Centre for Social Research, Athens, Greece.

Background: The relationship between gender, migration status and non-communicable diseases (NCDs) is rarely examined. In this study, we rely on data from the MIGHEAL Survey on health inequalities in Greece collected in 2016 comprising 1332 respondents of which 59.98% identified themselves as Greek-born, 24. Read More

Eur J Appl Physiol 2018 Nov 24. Epub 2018 Nov 24.

Department of Sports Science and Clinical Biomechanics, SDU Sport and Health Sciences Cluster (SHSC), University of Southern Denmark, 5230, Odense, Denmark.

Purpose: The prevalence of lifestyle diseases has escalated, and effective exercise training programmes are warranted. This study tested the hypothesis that regular participation in small-sided team handball training could provide beneficial health effects on cardiovascular, skeletal, and muscular parameters in young adult untrained men.

Method: Twenty-six untrained 20-30-year-old men were randomly allocated to either a team handball training group (HG; n = 14), which completed 1. Read More

Clin Chem Lab Med 2018 Nov 24. Epub 2018 Nov 24.

Department of Biomedical Sciences for Health, Università degli Studi di Milano, Milan, Italy.

Cell Res 2018 Dec 23;28(12):1158-1170. Epub 2018 Nov 23.

Department of Biochemistry and Molecular Biology, Structural Biology Imaging Center, McGovern Medical School at The University of Texas Health Science Center at Houston, 6431 Fannin Street, Houston, TX, 77030, USA.

Inositol-1,4,5-trisphosphate receptors (InsPRs) are cation channels that mobilize Ca from intracellular stores in response to a wide range of cellular stimuli. The paradigm of InsPR activation is the coupled interplay between binding of InsP and Ca that switches the ion conduction pathway between closed and open states to enable the passage of Ca through the channel. However, the molecular mechanism of how the receptor senses and decodes ligand-binding signals into gating motion remains unknown. Read More

Front Neurol 2018 8;9:942. Epub 2018 Nov 8.

Hotchkiss Brain Institute, University of Calgary, Calgary, AB, Canada.

GNE myopathy is characterized by distal muscle weakness, and caused by recessive mutations in . Its onset is characteristically in young adulthood, although a broad spectrum of onset age is known to exist. A large number of mutations in are pathogenic and this clinical phenotype can be difficult to differentiate clinically from other late-onset myopathies. Read More

Phytomedicine 2018 Nov 31;50:300-308. Epub 2018 Jan 31.

Zoology Department, Faculty of Science, Alexandria University, Alexandria 21511, Egypt.

Background: Due to renowned medicinal properties, Ginger rhizomes (Zingiber officinale Roscoe) used traditionally in the treatment of arthritis, rheumatism, muscular aches, constipation, indigestion, hypertension, dementia, fever, and infectious diseases. As an antiemetic, Ginger is consumed by approximately 80% of pregnant women to treat nausea and vomiting of early pregnancy.

Purpose: The aim of this study is to evaluate the impact of ginger extract on the oestrous cycle and implantation in female mice. Read More

Trends Genet 2018 Nov 19. Epub 2018 Nov 19.

Molecular, Cellular, and Developmental Biology Graduate Program and The Center for RNA Biology, The Ohio State University, Columbus, OH, USA; Center for Childhood Cancer and Blood Diseases, The Research Institute at Nationwide Children's Hospital, Columbus, OH, USA; Department of Pediatrics, The Ohio State University College of Medicine, Columbus, OH, USA. Electronic address:

Alternative splicing of pre-mRNA increases genetic diversity, and recent studies estimate that most human multiexon genes are alternatively spliced. If this process is not highly regulated and accurate, it leads to mis-splicing events, which may result in proteins with altered function. A growing body of work has implicated mis-splicing events in a range of diseases, including cancer, neurodegenerative diseases, and muscular dystrophies. Read More

Skelet Muscle 2018 Nov 22;8(1):36. Epub 2018 Nov 22.

Department of Molecular Microbiology and Immunology, School of Medicine, University of Missouri, Medical Sciences Building, One Hospital Drive, Columbia, MO, 65212, USA.

Background: Loss of sarcolemmal nNOSμ is a common manifestation in a wide variety of muscle diseases and contributes to the dysregulation of multiple muscle activities. Given the critical role sarcolemmal nNOSμ plays in muscle, restoration of sarcolemmal nNOSμ should be considered as an important therapeutic goal.

Methods: nNOSμ is anchored to the sarcolemma by dystrophin spectrin-like repeats 16 and 17 (R16/17) and the syntrophin PDZ domain (Syn PDZ). Read More

Acta Neuropathol 2018 Nov 21. Epub 2018 Nov 21.

Board of Governors Regenerative Medicine Institute, Los Angeles, USA.

Amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) are neurodegenerative diseases that overlap in their clinical presentation, pathology and genetics, and likely represent a spectrum of one underlying disease. In ALS/FTD patients, neuroinflammation characterized by innate immune responses of tissue-resident glial cells is uniformly present on end-stage pathology, and human imaging studies and rodent models support that neuroinflammation begins early in disease pathogenesis. Additionally, changes in circulating immune cell populations and cytokines are found in ALS/FTD patients, and there is evidence for an autoinflammatory state. Read More

Drug Des Devel Ther 2018 31;12:3705-3715. Epub 2018 Oct 31.

McColl-Lockwood Laboratory for Muscular Dystrophy Research, Department of Neurology, Cannon Research Center, Carolinas Medical Center, Charlotte, NC 28203, USA,

Background: Antisense oligonucleotide (ASO)-mediated exon skipping has been feasible and promising approach for treating Duchenne muscular dystrophy (DMD) in preclinical and clinical trials, but its therapeutic applications remain challenges due to inefficient delivery.

Methods: We investigated a few Saponins for their potential to improve delivery performance of an antisense 2'-Omethyl phosphorothioate RNA (2'-OMePS) in muscle cells and in dystrophic mice. This study was carried out by evaluating these Saponins' toxicity, cellular uptake, transduction efficiency in vitro, and local delivery in vivo for 2'-OMePS, as well as affinity study between Saponin and 2'-OMePS. Read More

Medicine (Baltimore) 2018 Nov;97(47):e13161

Department of Hematology, Gui Zhou Provincial People's Hospital.

Rationale: Gaucher disease (GD), characterized by glucosylceramide accumulation in the macrophage-monocyte system, is caused by glucosidase b acid (GBA) gene mutations which lead to the deficiency of lysosomal enzyme glucocerebrosidase. The mutation spectrum of GBA in Chinese patients is quite different from those seen in Jewish and non-Jewish Caucasian patients. Thus, it is relatively hard to diagnose GD in Chinese. Read More

J Cachexia Sarcopenia Muscle 2018 Nov 21. Epub 2018 Nov 21.

Institut NeuroMyoGene (INMG), Université Lyon 1, CNRS UMR 5310, INSERM U 1217, Lyon, France.

Background: The protein kinase mechanistic target of rapamycin (mTOR) controls cellular growth and metabolism. Although balanced mTOR signalling is required for proper muscle homeostasis, partial mTOR inhibition by rapamycin has beneficial effects on various muscle disorders and age-related pathologies. Besides, more potent mTOR inhibitors targeting mTOR catalytic activity have been developed and are in clinical trials. Read More

Acta Derm Venereol 2018 Nov 21. Epub 2018 Nov 21.

Department of Dermatology, Saint-Eloi Hospital and Montpellier University Hospital, 34295 Montpellier, France.

Anti-transcriptional intermediary factor-1γ (TIF-1γ) autoantibody may be associated with cancer in adult patients with dermatomyositis. The aim of this study was to evaluate the risk of cancer in the presence of anti-TIF-1γ autoantibody in adult dermatomyositis. A comprehensive database search of EMBASE, MEDLINE and the Cochrane Library up to May 2018 was performed using the main key words "dermatomyositis", "myositis", "inflammatory myopathies" and "anti-TIF-1". Read More

J Anim Sci Biotechnol 2018 8;9:79. Epub 2018 Nov 8.

1Department of Agricultural and Food Sciences, Alma Mater Studiorum - University of Bologna, Via del Florio, 2, 40064 Ozzano dell'Emilia, Italy.

Background: Due to the important functions of arginine in poultry, it should be questioned whether the currently adopted dietary Arg:Lys ratios are sufficient to meet the modern broiler requirement in arginine. The present study aimed, therefore, to evaluate the effects of the dietary supplementation of -arginine in a commercial broiler diet on productive performance, breast meat quality attributes, incidence and severity of breast muscle myopathies and foot pad dermatitis (FPD), and plasma and muscle metabolomics profile in fast-growing broilers.

Results: A total of 1,170 1-day-old Ross 308 male chicks was divided into two experimental groups of 9 replicates each fed either a commercial basal diet (CON, digestible Arg:Lys ratio of 1. Read More

Sensors (Basel) 2018 Nov 17;18(11). Epub 2018 Nov 17.

Division of Physiotherapy, Department of Neurobiology, Care Science and Society, Karolinska Institutet, 141 83 Stockholm, Sweden.

Sedentary Behavior (SB) is among the most frequent human behaviors and is associated with a plethora of serious chronic lifestyle diseases as well as premature death. Office workers in particular are at an increased risk due to their extensive amounts of occupational SB. However, we still lack an objective method to measure SB consistent with its definition. Read More

Sci Rep 2018 Nov 19;8(1):17005. Epub 2018 Nov 19.

Université Côte d'Azur, CNRS, Inserm, iBV, Nice, France.

Intramuscular fat deposition represents a negative prognostic factor for several myopathies, metabolic diseases and aging. Fibro-adipogenic progenitors (FAPs) are considered as the main source of intramuscular adipocytes, but the mechanisms controlling their adipogenic potential are still not elucidated in humans. The aim of this study was to explore the regulation of human FAP adipogenesis by macrophages. Read More

Elife 2018 Nov 19;7. Epub 2018 Nov 19.

Department of Developmental & Stem Cell Biology, Institut Pasteur, Paris, France.

In vertebrates, head and trunk muscles develop from different mesodermal populations and are regulated by distinct genetic networks. Neck muscles at the head-trunk interface remain poorly defined due to their complex morphogenesis and dual mesodermal origins. Here, we use genetically modified mice to establish a 3D model that integrates regulatory genes, cell populations and morphogenetic events that define this transition zone. Read More

Acta Clin Belg 2018 Nov 19:1-5. Epub 2018 Nov 19.

b Faculty of Medicine, Department of Rheumatology , Hacettepe University , Ankara , Turkey.

Muscle weakness is a nonspecific finding of myopathy of any etiology that include iatrogenic, toxic, endocrinological, infectious, immunologic, and metabolic disorders. Among the metabolic myopathies glutaric aciduria type II (GAII) is an autosomal recessively inherited rare disorder of fatty acid and amino acid metabolisms. The late onset form is heterogeneous in terms of symptomatology and severity and for the cases that chronic manifestations of lipid storage myopathy are the only clues for the disease, differential diagnosis can be challenging. Read More

Epilepsia 2018 Dec 19;59(12):2260-2271. Epub 2018 Nov 19.

Neurology Unit, Department of Neuroscience, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.

Objective: PCDH19-related epilepsy is an epileptic syndrome with infantile onset, characterized by clustered and fever-induced seizures, often associated with intellectual disability (ID) and autistic features. The aim of this study was to analyze a large cohort of patients with PCDH19-related epilepsy and better define the epileptic phenotype, genotype-phenotype correlations, and related outcome-predicting factors.

Methods: We retrospectively collected genetic, clinical, and electroencephalogram (EEG) data of 61 patients with PCDH19-related epilepsy followed at 15 epilepsy centers. Read More

Dig Endosc 2018 Nov 18. Epub 2018 Nov 18.

Division of Gastroenterology and Hepatology, Department of Internal Medicine, Nihon University School of Medicine, 1-6, Kanda-Surugadai, Chiyoda-ku, 101-8309, Tokyo, Japan.

Endoscopic submucosal dissection (ESD) is standard treatment for early esophageal cancer (EEC). Cancer located within the diverticulum, which has a thin or nonexistent muscular coating, is extremely rare. We describe successful ESD of esophageal diverticular cancer with a high risk of perforation. Read More

Eur J Pediatr 2018 Nov 17. Epub 2018 Nov 17.

Department of Dermatology, UZ Leuven Campus Gasthuisberg, Herestraat 49, 3000, Leuven, Belgium.

A retrospective study in which we reviewed the hospital files of a subset of 7 patients with Duchenne muscular dystrophy participating in the open-label phase I/II PRO051-02 study in Leuven. The objective of this study was to describe in detail the injection site reactions in these children treated with drisapersen (PRO-051), a 2'-O-methyl phosphorothioate RNA antisense oligonucleotide, that induces exon 51 skipping in Duchenne muscular dystrophy. Antisense oligonucleotides, restoring the reading frame by skipping of exons, have become a potential treatment of Duchenne muscular dystrophy and other monogenetic diseases. Read More

Am J Pathol 2018 Nov 15. Epub 2018 Nov 15.

Center of Translational and Experimental Myology, Istituto Giannina Gaslini, Genova, Italy. Electronic address:

In muscular dystrophies the muscle membrane fragility results in a tissue-specific increase of danger-associated molecules (DAMPs) and infiltration of inflammatory cells. The DAMP extracellular adenosine triphosphate (eATP) released by dying myofibers steadily activates muscle and immune purinergic receptors exerting dual negative effects: a direct damage linked to altered intracellular calcium homeostasis in muscle cells and an indirect toxicity through the "triggering" of the immune response and inhibition of regulatory T cells. Accordingly, pharmacological and genetic inhibition of eATP signaling improves the phenotype in models of chronic inflammatory diseases. Read More

Sci Rep 2018 Nov 16;8(1):16957. Epub 2018 Nov 16.

Lillehei Heart Institute, University of Minnesota, Minneapolis, MN, 55455, USA.

Loss of silencing of the DUX4 gene on chromosome 4 causes facioscapulohumeral muscular dystrophy. While high level DUX4 expression induces apoptosis, the effects of low level DUX4 expression on human myogenic cells are not well understood. Low levels and sporadic expression of DUX4 have been reported in FSHD biopsy samples and myoblast cultures. Read More

Clin Immunol 2018 Nov 13;198:11-18. Epub 2018 Nov 13.

Department of Pediatrics, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China. Electronic address:

Background: Several complications like calcinosis, interstitial lung disease (ILD) or malignancy, are primary causes leading to poor outcomes in idiopathic inflammatory myopathies (IIM) patients. Specific antibodies might help to indicate the occurrence or absence of these complications.

Objective: The aim of this study was to evaluate the association of anti-nuclear matrix protein 2 antibody (anti-NXP2) with calcinosis, ILD and malignancy in IIM patients. Read More

Front Physiol 2018 1;9:1418. Epub 2018 Nov 1.

Department of Biomedical Sciences, Heritage College of Osteopathic Medicine, Ohio University, Athens, OH, United States.

Myostatin, a negative regulator of muscle growth, is considered a potential therapeutic agent for individuals suffering from various muscle wasting and strength declining diseases because inhibiting Mstn signaling leads to muscular hypertrophy. In this study we investigate the interaction between myostatin and the growth hormone/insulin-like growth factor-1 (GH/IGF-1) axis in muscle function and strength. To this end, we measured hind limb grip strength and myostatin levels in two mouse models of GH gene manipulation; GH receptor knockout ( mice which have reduced GH/IGF-1 action, and bovine GH transgenic (bGH) mice which have excess GH/IGF-1 action. Read More

J Am Coll Cardiol 2018 Nov;72(20):2485-2506

Centre for Inherited Cardiovascular Diseases, IRCCS Foundation, University Hospital Policlinico San Matteo, Pavia, Italy.

Hereditary muscular diseases commonly involve the heart. Cardiac manifestations encompass a spectrum of phenotypes, including both cardiomyopathies and rhythm disorders. Common biomarkers suggesting cardiomuscular diseases include increased circulating creatine kinase and/or lactic acid levels or disease-specific metabolic indicators. Read More

Ital J Pediatr 2018 Nov 16;44(Suppl 2):126. Epub 2018 Nov 16.

Division of Inherited Metabolic Diseases, Regional Center for Expanded Neonatal Screening, Department of Women and Children's Health, University Hospital of Padova, Via Orus 2/B, 35129, Padova, Italy.

Newborn screening (NBS) methods and therapeutic options have become increasingly available for mucopolysaccharidoses (MPS), and there is a clear evidence that early intervention significantly improves the outcome. It is recommended that mucopolysaccharidosis type I (MPS I) is included in the US newborn screening panel, and this is currently underway in some NBS programs in the world. The key factors in recommending MPS I for inclusion in NBS are the strongly improved efficacy of early-onset therapy and the improved performance of screening tests. Read More

Conf Proc IEEE Eng Med Biol Soc 2018 Jul;2018:4410-4413

In this work we present the development and preliminary testing of a wearable-technology-enabled platform for the remote rehabilitation of a large number of shoulder muscular-skeletal diseases. The presented system (Shoulphy) is conceived to lead and assess the patient, wearing a minimal set of inertial sensors, through personalized physical rehabilitation programs under the remote supervision of the physician/therapist. We have introduced a minimal inertial sensor set and an associated biomechanical reconstruction method based on a bi-articular model of the shoulder. Read More

Conf Proc IEEE Eng Med Biol Soc 2018 Jul;2018:2136-2141

Injuries, accidents, strokes, and other diseases can significantly degrade the capabilities to perform even the most simple activities in daily life. While assistive technology becomes more and more available to the people affected, there is still a big need for user interfaces suitable for people without functional hand movement. A large share of these cases involves neuromuscular diseases, which lead to severely reduced muscle function. Read More