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    Pathogenic role of anti-SRP and anti-HMGCR antibodies in necrotizing myopathies: Myofiber atrophy and impairment of muscle regeneration in necrotizing autoimmune myopathies.
    Ann Neurol 2017 Feb 22. Epub 2017 Feb 22.
    Sorbonne Universités UPMC Univ Paris 06, Inserm, CNRS, Myology research center, Pitié-Salpêtrière University Hospital, Paris, France.
    Objective: Immune mediated necrotizing myopathies (IMNM) may be associated with either anti-SRP or anti-HMGCR antibodies (Abs) and the titer of these Abs is correlated with the disease activity. We investigated if anti-SRP and anti-HMGCR Abs could be involved in muscle damages.

    Methods: Muscle biopsies of patients were analyzed for atrophy and regeneration, by measuring the fibers size and by performing immunostaining of neonatal myosin heavy chain. Read More

    Rigid spine syndrome associated with sensory-motor axonal neuropathy resembling Charcot-Marie-Tooth disease is characteristic of BAG3 gene mutations even without cardiac involvement.
    Muscle Nerve 2017 Feb 22. Epub 2017 Feb 22.
    Centre de Référence de Pathologie Neuromusculaire Paris-Est, Institut de Myologie, CHU La Pitié-Salpêtrière, Assistance Publique-Hôpitaux de Paris, Paris, France.
    Introduction: BAG3 (Bcl-2 associated athanogene-3) mutations have been described in rare cases of rapidly progressive myofibrillar myopathies. Symptoms begin in the first decade with axial involvement and contractures and are associated with cardiac and respiratory impairment in the second decade. Axonal neuropathy has been documented, but usually not as a key clinical feature. Read More

    Infections and Vaccinations as Possible Triggers of Inflammatory Myopathies.
    Muscle Nerve 2017 Feb 22. Epub 2017 Feb 22.
    SA Pathology, Frome Rd, Adelaide, SA, 5000, Australia.
    Introduction: The role of vaccinations and infections in triggering idiopathic inflammatory myopathies (IIM) has not been confirmed.

    Methods: Among patients with histologically-confirmed myositis, infections or vaccinations administered prior to myositis onset were determined. The characteristics of this group were compared with controls (myositis patients without prior infection or vaccination). Read More

    Exertional rhabdomyolysis and heat stroke: Beware of volatile anesthetic sedation.
    World J Crit Care Med 2017 Feb 4;6(1):21-27. Epub 2017 Feb 4.
    Karel Heytens, Department of Anesthesiology, University Hospital Antwerp, 2650 Edegem, Belgium.
    In view of the enormous popularity of mass sporting events such as half-marathons, the number of patients with exertional rhabdomyolysis or exercise-induced heat stroke admitted to intensive care units (ICUs) has increased over the last decade. Because these patients have been reported to be at risk for malignant hyperthermia during general anesthesia, the intensive care community should bear in mind that the same risk of life-threatening rhabdomyolysis is present when these patients are admitted to an ICU, and volatile anesthetic sedation is chosen as the sedative technique. As illustrated by the three case studies we elaborate upon, a thorough diagnostic work-up is needed to clarify the subsequent risk of strenuous exercise, and the anesthetic exposure to volatile agents in these patients and their families. Read More

    The Epigenetic Regulator SMCHD1 in Development and Disease.
    Trends Genet 2017 Feb 17. Epub 2017 Feb 17.
    The Walter and Eliza Hall Institute of Medical Research, Melbourne VIC, Australia; The Department of Medical Biology, The University of Melbourne, Melbourne VIC, Australia. Electronic address:
    It has very recently become clear that the epigenetic modifier SMCHD1 has a role in two distinct disorders: facioscapulohumoral muscular dystrophy (FSHD) and Bosma arhinia and micropthalmia (BAMS). In the former there are heterozygous loss-of-function mutations, while both gain- and loss-of-function mutations have been proposed to underlie the latter. These findings have led to much interest in SMCHD1 and how it works at the molecular level. Read More

    Progressive Motor Deficit is Mediated by the Denervation of Neuromuscular Junctions and Axonal Degeneration in Transgenic Mice Expressing Mutant (P301S) Tau Protein.
    J Alzheimers Dis 2017 Feb 10. Epub 2017 Feb 10.
    Department of Neuroscience, Section Medical Physiology, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands.
    Tauopathies include a variety of neurodegenerative diseases associated with the pathological aggregation of hyperphosphorylated tau, resulting in progressive cognitive decline and motor impairment. The underlying mechanism for motor deficits related to tauopathy is not yet fully understood. Here, we use a novel transgenic tau mouse line, Tau 58/4, with enhanced neuron-specific expression of P301S mutant tau to investigate the motor abnormalities in association with the peripheral nervous system. Read More

    What's in the Literature?
    J Clin Neuromuscul Dis 2017 Mar;18(3):165-175
    *Departments of Neurology and Pathology (Neuropathology), School of Medicine, University of Pittsburgh, Pittsburgh, PA; and †Department of Neurology, Jacobs School of Medicine and Biomedical Sciences, University at Buffalo, SUNY, Buffalo, NY.
    In this edition of this column, we review new studies concerning the pathophysiology, treatment, and outcomes of patients with necrotizing myopathy, genetic testing in congenital myopathies, and limb girdle muscular dystrophies, and the incidence of polyneuropathy in the myotonic dystrophies. Various studies in myasthenia gravis, including those concerning antibody testing, clinical features, and quality of life are also reviewed as are recent findings in congenital myasthenic syndromes. Finally, 2 studies concerning polyneuropathy are discussed, including one on the association of polyneuropathy in patients with the metabolic syndrome and one on laboratory testing in patients with otherwise idiopathic small fiber polyneuropathy. Read More

    National survey of health in the tattoo industry: Observational study of 448 French tattooists.
    Int J Occup Med Environ Health 2017 Feb 13;30(1):111-120. Epub 2017 Feb 13.
    University of Helsinki, Helsinki, Finland (Departments of Dermatology, Allergology and Venereology).
    Objectives: The data regarding the health of professional tattooists is inexistent. Tattooists are usually heavily tattooed and exposed daily to body fluids and skin-to-skin contacts with customers, tattoo inks, solvents, allergens, irritants, and work for hours often in inadequate positions using vibrating tattoo machines. We analyzed the health status of active French professional tattooists. Read More

    Recessive MYPN mutations cause cap myopathy with occasional nemaline rods.
    Ann Neurol 2017 Feb 21. Epub 2017 Feb 21.
    Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), Illkirch, France.
    Congenital myopathies are phenotypically and genetically heterogeneous. We describe homozygous truncating mutations in MYPN in 2 unrelated families with a slowly progressive congenital cap myopathy. MYPN encodes the Z-line protein myopalladin implicated in sarcomere integrity. Read More

    The new neuromuscular disease related with defects in the ASC-1 complex: report of a second case confirms ASCC1 involvement.
    Clin Genet 2017 Feb 20. Epub 2017 Feb 20.
    Unidade de Genética Molecular, Centro de Genética Médica Dr. Jacinto Magalhães, Centro Hospitalar do Porto, Porto, 4099-028, Portugal.
    Next-generation sequencing technology aided the identification of the underlying genetic cause in a female newborn with a severe neuromuscular disorder. The patient presented generalized hypotonia, congenital bone fractures, lack of spontaneous movements and poor respiratory effort. She died within the first days of life. Read More

    Neoplastic diseases of the spermatic cord: an overview of pathological features, evaluation, and management.
    Transl Androl Urol 2017 Feb;6(1):101-110
    Department of Physiology and Biophysics, Stony Brook University School of Medicine, Stony Brook, NY, USA;; Department of Urology, Stony Brook University School of Medicine, Stony Brook, NY, USA.
    Extracellular tumors found with the spermatic cord, known as neoplasms, are usually identified to be benign. However, the accurate and timely diagnosis of spermatic cord masses is highly crucial, especially when most results are often overlooked or unclear. In this review, we discuss the anatomy and embryology of the spermatic cord. Read More

    Co-incidence of Turner syndrome and Duchenne muscular dystrophy - an important problem for the clinician.
    Dev Period Med 2016 ;20(4):273-278
    Department of Biology and Genetics, Medical University of Gdańsk.
    Introduction: Turner syndrome is a relatively common chromosomal disorder which affects about one in 2000 live born females. Duchenne muscular dystrophy is an X-linked recessive disorder affecting 1:3600 live born males. Considering the above, the coexistence of these two diseases may occur only anecdotally. Read More

    Transcriptome analysis reveals non-identical microRNA profiles between arterial and venous plasma.
    Oncotarget 2017 Feb 14. Epub 2017 Feb 14.
    Department of Physiology and Pathophysiology, Department of Biomedical Informatics, Centre for Noncoding RNA Medicine, MOE Key Lab of Cardiovascular Sciences, School of Basic Medical Sciences, Peking University, Beijing, 100191, China.
    Circulating microRNAs presented in venous plasma have been demonstrated as powerful biomarkers for the complex diseases like cancer. Nevertheless, those presented in arterial plasma remained largely unexplored. Here, using microarray technique, we compared microRNA expression profiles of the matched arterial and venous plasma samples from the same male rats. Read More

    1q21.3 deletion involving GATAD2B: An emerging recurrent microdeletion syndrome.
    Am J Med Genet A 2017 Mar;173(3):766-770
    Division of Medical Genetics, Department of Pediatrics, Faculty of Medicine Ramathibodi Hospital, Mahidol University, Bangkok, Thailand.
    GATAD2B gene is involved in chromatin modification and transcription activity. Loss-of-function mutations of GATAD2B have recently been defined to cause a recognizable syndrome with intellectual disability (ID). Human TPM3 gene encoding thin filament protein is associated with myopathies. Read More

    An Unusual Suspect Causing Hypoxemic Respiratory Failure.
    J Investig Med High Impact Case Rep 2017 Jan-Mar;5(1):2324709616687587. Epub 2017 Jan 1.
    Medical College of Wisconsin, Milwaukee, WI, USA.
    Introduction: Antisynthetase syndrome (ASS) is characterized by the presence of anti-Jo-1 antibodies in conjunction with clinical findings of fever, polymyositis-dermatomyositis, and interstitial lung disease (ILD). Inflammatory myopathies carry a high risk of malignancy, but this association is less well outlined in ASS. We present the case of a patient with ASS who developed non-Hodgkin's lymphoma with acute hypoxemic respiratory failure. Read More

    Anti-HMGCR Autoantibodies in Juvenile Idiopathic Inflammatory Myopathies Identify a Rare but Clinically Important Subset of Patients.
    J Rheumatol 2017 Feb 15. Epub 2017 Feb 15.
    From the Royal National Hospital for Rheumatic Diseases, Royal United Hospitals Foundation Trust; University of Bath, Bath; University College London (UCL) Institute of Child Health; Arthritis Research UK Centre for Adolescent Rheumatology at UCL, University College London Hospitals (UCLH), and Great Ormond Street Hospital (GOSH), London; Leeds Children's Hospital, Leeds; Nottingham University Hospitals UK National Health Service (NHS) Trust, Nottingham, UK. Funding for the UK Juvenile Dermatomyositis Cohort and Biomarker study has been provided by the Wellcome Trust UK (085860), Action Medical Research UK (SP4252), The Myositis Support Group UK, Arthritis Research UK (14518, 20164), The Henry Smith Charity and Great Ormond Street Children's Charity (V1268), and the National Institute for Health Research (NIHR) Translational Research Collaboration Rare Diseases. This research was supported by the NIHR Biomedical Research Centre at GOSH for Children NHS Foundation Trust and Institute of Child Health UCL. SLT is supported by a fellowship from The Bath Institute for Rheumatic Diseases and has received previous support from the BMA Doris Hillier Grant (2012). S.L. Tansley, MBChB, MRCP, Royal National Hospital for Rheumatic Diseases, Royal United Hospitals Foundation Trust, and University of Bath; Z.E. Betteridge, BSc, PhD, University of Bath; S. Simou, MSc, UCL Institute of Child Health; T.S. Jacques, PhD, MRCP, FRCPath, UCL Institute of Child Health, and GOSH; C. Pilkington, MBBS, FRCPCH, FRCP, GOSH; M. Wood, MBBS, MRCPCH, Leeds Children's Hospital; K. Warrier, MBBS, MRCPCH, Nottingham University Hospitals NHS Trust; L.R. Wedderburn, MD, PhD, FRCP, UCL Institute of Child Health, and GOSH, and Arthritis Research UK Centre for Adolescent Rheumatology at UCL, UCLH, and GOSH; N.J. McHugh, MD, FRCP, FRCPath, Royal National Hospital for Rheumatic Diseases, Royal United Hospitals Foundation Trust, and University of Bath. Address correspondence to Dr. S.L. Tansley, Royal National Hospital For Rheumatic Diseases NHS Foundation Trust, Upper Borough Walls, Bath BA1 1RL, UK. E-mail: Accepted for publication December 23, 2016.
    Objective: We aimed to establish the prevalence and clinical associations of anti-HMG-CoA-reductase (anti-HMGCR) in a large UK cohort with juvenile myositis.

    Methods: There were 381 patients investigated for anti-HMGCR using ELISA.

    Results: Anti-HMGCR autoantibodies were detected in 4 patients (1%). Read More

    Prominent subcutaneous oedema as a masquerading symptom of an underlying inflammatory myopathy.
    Intern Med J 2017 Feb;47(2):217-221
    Department of Clinical Immunology, Westmead Hospital, Sydney, New South Wales, Australia.
    The inflammatory myopathies are a group of immune-mediated inflammatory muscle disorders that typically present with marked proximal muscle weakness. We report four cases of inflammatory myopathies with marked subcutaneous oedema as their main complaint. Three of the four patients had normal or low levels of creatine kinase, an enzyme often markedly elevated in these disorders. Read More

    Clinical applications of near-infrared diffuse correlation spectroscopy and tomography for tissue blood flow monitoring and imaging.
    Physiol Meas 2017 Feb 15. Epub 2017 Feb 15.
    Biomedical Engineering,University of Kentucky, Lexington, Kentucky,UNITED STATES.
    Near-infrared (NIR) light enables the deep tissue investigation of microvascular hemodynamics. Blood flow is one such available observable promoting a wealth of physiological insight both individually and in combination with other metrics. Diffuse correlation spectroscopy (DCS) and, to a lesser extent, diffuse correlation tomography (DCT), have received interest over the past two decades as noninvasive methods for tissue blood flow measurement and imaging. Read More

    DYNC1H1 mutations associated with neurological diseases compromise processivity of dynein-dynactin-cargo adaptor complexes.
    Proc Natl Acad Sci U S A 2017 Feb 14. Epub 2017 Feb 14.
    Division of Cell Biology, Medical Research Council (MRC) Laboratory of Molecular Biology, Cambridge CB2 0QH, United Kingdom;
    Mutations in the human DYNC1H1 gene are associated with neurological diseases. DYNC1H1 encodes the heavy chain of cytoplasmic dynein-1, a 1.4-MDa motor complex that traffics organelles, vesicles, and macromolecules toward microtubule minus ends. Read More

    Exome Sequencing Identifies De Novo DYNC1H1 Mutations Associated With Distal Spinal Muscular Atrophy and Malformations of Cortical Development.
    J Child Neurol 2017 Mar 20;32(4):379-386. Epub 2016 Dec 20.
    1 Institute of Pediatric Translational Medicine, Shanghai Children's Medical Center, Shanghai Jiaotong University School of Medicine, Shanghai, PR China.
    Exome sequencing has become a formidable tool for identifying potential de novo variants in causative genes of human diseases, such as neurodegenerative disorders. This article describes a 16-month-old girl with spinal muscular atrophy with lower extremity predominance and a 13-month-old girl with malformations of cortical development. Exome sequencing identified a novel de novo heterozygous missense mutation c. Read More

    Mutations in INPP5K Cause a Form of Congenital Muscular Dystrophy Overlapping Marinesco-Sjögren Syndrome and Dystroglycanopathy.
    Am J Hum Genet 2017 Feb 1. Epub 2017 Feb 1.
    Department of Pharmacology and Physiology, The George Washington University School of Medicine and Health Science, Washington, DC 20037, USA. Electronic address:
    Congenital muscular dystrophies display a wide phenotypic and genetic heterogeneity. The combination of clinical, biochemical, and molecular genetic findings must be considered to obtain the precise diagnosis and provide appropriate genetic counselling. Here we report five individuals from four families presenting with variable clinical features including muscular dystrophy with a reduction in dystroglycan glycosylation, short stature, intellectual disability, and cataracts, overlapping both the dystroglycanopathies and Marinesco-Sjögren syndrome. Read More

    Mutations in INPP5K, Encoding a Phosphoinositide 5-Phosphatase, Cause Congenital Muscular Dystrophy with Cataracts and Mild Cognitive Impairment.
    Am J Hum Genet 2017 Feb 8. Epub 2017 Feb 8.
    Friedrich-Baur-Institute, Department of Neurology, Ludwig Maximilians University Munich, 80336 Munich, Germany. Electronic address:
    Phosphoinositides are small phospholipids that control diverse cellular downstream signaling events. Their spatial and temporal availability is tightly regulated by a set of specific lipid kinases and phosphatases. Congenital muscular dystrophies are hereditary disorders characterized by hypotonia and weakness from birth with variable eye and central nervous system involvement. Read More

    Differences in gut microbiota profile between women with active lifestyle and sedentary women.
    PLoS One 2017 10;12(2):e0171352. Epub 2017 Feb 10.
    Research Group on Nutrition, Physical Activity and Health, School of Doctorate Studies and Research, European University, Madrid, Spain.
    Physical exercise is a tool to prevent and treat some of the chronic diseases affecting the world's population. A mechanism through which exercise could exert beneficial effects in the body is by provoking alterations to the gut microbiota, an environmental factor that in recent years has been associated with numerous chronic diseases. Here we show that physical exercise performed by women to at least the degree recommended by the World Health Organization can modify the composition of gut microbiota. Read More

    Mechanisms of Cardiomyocyte Proliferation and Differentiation in Development and Regeneration.
    Curr Cardiol Rep 2017 Feb;19(2):13
    Richard King Mellon Foundation Institute for Pediatric Research and Division of Cardiology, Children's Hospital of Pittsburgh of UPMC, and Department of Pediatrics, University of Pittsburgh School of Medicine, 4401 Penn Ave, Pittsburgh, PA, 15224-1334, USA.
    Purpose Of Review: Congenital heart disease is the most common birth defect and acquired heart disease is the leading cause of death in adults. Understanding the mechanisms that drive cardiomyocyte proliferation and differentiation has the potential to advance the understanding and potentially the treatment of different cardiac pathologies, ranging from myopathies and heart failure to myocardial infarction. This review focuses on studies aimed at elucidating signal transduction pathways and molecular mechanisms that promote proliferation, differentiation, and regeneration of differentiated heart muscle cells, cardiomyocytes. Read More

    Pyruvate kinase M2 and the mitochondrial ATPase Inhibitory Factor 1 provide novel biomarkers of dermatomyositis: a metabolic link to oncogenesis.
    J Transl Med 2017 Feb 10;15(1):29. Epub 2017 Feb 10.
    Departamento de Biología Molecular, Centro de Biología Molecular Severo, Ochoa, CSIC-UAM, Universidad Autónoma de Madrid, c/Nicolás Cabrera 1, 28049, Madrid, Spain.
    Background: Metabolic alterations play a role in the development of inflammatory myopathies (IMs). Herein, we have investigated through a multiplex assay whether proteins of energy metabolism could provide biomarkers of IMs.

    Methods: A cohort of thirty-two muscle biopsies and forty plasma samples comprising polymyositis (PM), dermatomyositis (DM) and sporadic inclusion body myositis (sIBM) and control donors was interrogated with monoclonal antibodies against proteins of energy metabolism using reverse phase protein microarrays (RPPA). Read More

    Hereditary Myopathies with Early Respiratory Insufficiency in Adults.
    Muscle Nerve 2017 Feb 9. Epub 2017 Feb 9.
    Department of Neurology, Mayo Clinic, Rochester, Minnesota, USA.
    Introduction: Hereditary myopathies with early respiratory insufficiency as a predominant feature of the clinical phenotype are uncommon and underestimated in adults.

    Methods: We reviewed the clinical and laboratory data of patients with hereditary myopathies that demonstrated early respiratory insufficiency prior to the need for ambulatory assistance. Only patients with disease-causing mutations or a specific histopathological diagnosis were included. Read More

    Pathophysiology of Bone Fragility in Patients with Diabetes.
    Calcif Tissue Int 2017 Feb 8;100(2):122-132. Epub 2017 Feb 8.
    Diabetes and Bone network, Department Endocrinology and Diabetes, University Campus Bio-Medico of Rome, Via Alvaro del Portillo, 21 - 00128, Rome, Italy.
    It has been well established that bone fragility is one of the chronic complications of diabetes mellitus, and both type 1 and type 2 diabetes are risk factors for fragility fractures. Diabetes may negatively affect bone health by unbalancing several pathways: bone formation, bone resorption, collagen formation, inflammatory cytokine, muscular and incretin system, bone marrow adiposity and calcium metabolism. The purpose of this narrative review is to explore the current understanding of pathophysiological pathways underlying bone fragility in diabetics. Read More

    In Vivo Human Somitogenesis Guides Somite Development from hPSCs.
    Cell Rep 2017 Feb;18(6):1573-1585
    Department of Microbiology, Immunology and Molecular Genetics, University of California, Los Angeles, Los Angeles, CA 90095, USA; Center for Duchenne Muscular Dystrophy, University of California, Los Angeles, Los Angeles, CA 90095, USA; Eli and Edythe Broad Center of Regenerative Medicine and Stem Cell Research, University of California, Los Angeles, Los Angeles, CA 90095, USA. Electronic address:
    Somites form during embryonic development and give rise to unique cell and tissue types, such as skeletal muscles and bones and cartilage of the vertebrae. Using somitogenesis-stage human embryos, we performed transcriptomic profiling of human presomitic mesoderm as well as nascent and developed somites. In addition to conserved pathways such as WNT-β-catenin, we also identified BMP and transforming growth factor β (TGF-β) signaling as major regulators unique to human somitogenesis. Read More

    Single-Cell Analysis of SMN Reveals Its Broader Role in Neuromuscular Disease.
    Cell Rep 2017 Feb;18(6):1484-1498
    Department of Stem Cell and Regenerative Biology, Harvard University, Cambridge, MA 02138, USA; Harvard Stem Cell Institute, Harvard University, Cambridge, MA 02138, USA. Electronic address:
    The mechanism underlying selective motor neuron (MN) death remains an essential question in the MN disease field. The MN disease spinal muscular atrophy (SMA) is attributable to reduced levels of the ubiquitous protein SMN. Here, we report that SMN levels are widely variable in MNs within a single genetic background and that this heterogeneity is seen not only in SMA MNs but also in MNs derived from controls and amyotrophic lateral sclerosis (ALS) patients. Read More

    Emerging Roles of ER Stress and Unfolded Protein Response Pathways in Skeletal Muscle Health and Disease.
    J Cell Physiol 2017 Feb 8. Epub 2017 Feb 8.
    Department of Anatomical Sciences and Neurobiology, University of Louisville School of Medicine, Louisville, KY 40202.
    Skeletal muscle is the most abundant tissue in the human body and can adapt its mass as a consequence of physical activity, metabolism, growth factors, and disease conditions. Skeletal muscle contains an extensive network of endoplasmic reticulum (ER), called sarcoplasmic reticulum, which plays an important role in the regulation of proteostasis and calcium homeostasis. In many cell types, environmental and genetic factors that disrupt ER function cause an accumulation of misfolded and unfolded proteins in the ER lumen that ultimately leads to ER stress. Read More

    Predictors of Health-Related Quality of Life in boys with Duchenne muscular dystrophy from six European countries.
    J Neurol 2017 Feb 7. Epub 2017 Feb 7.
    Department of Neuropediatrics and Muscle Disorders, University Medical Center Freiburg, Mathildenstraße 1, 79116, Freiburg, Germany.
    Duchenne muscular dystrophy (DMD) is a progressive, genetically determined neuromuscular disease that affects males and leads to severe physical disability in early teenage years. Over the last decades, patient-reported outcomes such as Health-Related Quality of Life (HRQoL) gained great interest in clinical research. However, little is known about factors affecting HRQoL in boys with DMD. Read More

    Complex ventricular septal defects. Update on percutaneous closure.
    Rom J Morphol Embryol 2016 ;57(4):1195-1205
    Department of Pediatric Cardiology, "Maria Sklodowska Curie" Emergency Children's Hospital, Bucharest, Romania;
    Ventricular septal defects (VSDs) are the most common congenital heart diseases. Sometimes they can be complex because of anatomy, age of the patients or associated diseases. Surgery has been performed for many years and is considered as the gold standard for the treatment of VSD. Read More

    [Peripheral nerve injury in LAMA2-related congenital muscular dystrophy patients].
    Zhonghua Er Ke Za Zhi 2017 Feb;55(2):95-99
    Department of Pediatrics, Peking University First Hospital, Beijing 100034, China.
    Objective: To explore the injury pattern and features of peripheral nerve in congenital muscular dystrophy patients caused by LAMA2 gene mutation. Method: Seventeen patients genetically or molecular pathologically diagnosed as LAMA2-related congenital muscular dystrophy were recruited in Peking University First Hospital between 2002 and 2015. All the patients received nerve conduction velocity (NCV) and needle electromyography tests. Read More

    [Reversible alterations in the neuroimages associated with vigabatrine treatment in infants with epileptic spasms].
    Rev Neurol 2017 Feb;64(4):169-174
    Hospital Infantil Universitario Nino Jesus, 28009 Madrid, Espana.
    Introduction: Vigabatrin (VGB) is a first-line drug for the treatment of infantile spasms. Recently, several reports claim the existence of abnormalities in magnetic resonance imaging (MRI) (particularly affecting basal ganglia, and visible in T2 and diffusion sequences) in infants with spasms that were receiving high doses of VGB (> 100 mg/kg/day), which appear to be reversible after withdrawal of treatment.

    Case Reports: We present two cases with an epileptic encephalopathy in the first year of life and seizures consisting of infantile spasms. Read More

    Job rotation: Effects on muscular activity variability.
    Appl Ergon 2017 Apr 18;60:83-92. Epub 2016 Nov 18.
    Pontificia Universidad Javeriana, Department of Industrial Engineering, Carrera 7 # 40-62, Bogotá, Colombia.
    Job rotation strategies have been used for years as an administrative intervention to reduce the risk of musculoskeletal disorders. The benefits of job rotation have been hypothesized to occur via changes in muscular activity variability (MAV). However, the effect of job rotation on MAV has not been fully analyzed in a literature review. Read More

    Predictors of musculoskeletal discomfort: A cross-cultural comparison between Malaysian and Australian office workers.
    Appl Ergon 2017 Apr 12;60:52-57. Epub 2016 Nov 12.
    Centre for Ergonomics and Human Factors, School of Psychology and Public Health, La Trobe University, Victoria 3086, Australia. Electronic address:
    Prevalence and predictors associated with musculoskeletal disorders (MSDs) vary considerably between countries. It is plausible that socio-cultural contexts may contribute to these differences. We conducted a cross-sectional survey with 1184 Malaysian and Australian office workers with the aim to examine predictors associated with MSD discomfort. Read More

    Effects of button position on a soft keyboard: Muscle activity, touch time, and discomfort in two-thumb text entry.
    Appl Ergon 2017 Apr 27;60:282-292. Epub 2016 Dec 27.
    University of Ulsan, 93 Daehak-ro, Nam-gu, Ulsan, 680-749, Republic of Korea. Electronic address:
    Intensive use of the thumbs for text entry on smartphones may contribute to discomfort, pain, or musculoskeletal disorders. This study investigated the effect of twenty-five button positions (5 rows × 5 columns) on a soft keyboard for two-thumb entry. Two experiments measured muscle activity, touch time, and discomfort as a function of the button positions. Read More

    Effect of work boot type on work footwear habits, lower limb pain and perceptions of work boot fit and comfort in underground coal miners.
    Appl Ergon 2017 Apr 3;60:146-153. Epub 2016 Dec 3.
    Biomechanics Research Laboratory, School of Medicine, Faculty of Science, Medicine & Health, University of Wollongong, Wollongong, Australia.
    Lower limb injuries are highly prevalent in underground coal mining. Wearing gumboots with inadequate ankle support was thought to contribute to these injuries. Despite the uptake of leather lace-up boots, which provide more ankle support, no recent research could be found investigating the effect of this alternative work boot in underground coal mining. Read More

    Anti-cytoplasmic Autoantibodies in Hodgkin's Lymphoma.
    Clin Lab 2016 Aug;62(8):1579-1584
    Background: A 42-year old male patient with anamnesis of bronchial asthma presented himself with exertional dyspnea. High titer antibodies of cytoplasmic pattern in the indirect immunofluorescence test (IIFT) on HEp-2cells, not attributable to common specificities like anti-tRNA-synthetases, anti-signal recognition particle (SRP) or anti-ribosomal proteins (RPs) prompted the molecular biological approach for determination of antigen specificity. In-depth investigation of the patient's clinical settings revealed a lymphocyte predominant Hodgkin's lymphoma, which could be brought to complete remission by chemotherapy. Read More

    A systematic review of the relationship between dystemprament (sue Mizaj) and treatments and management of diseases (Ilaj and Eslah-e-Mizaj).
    Electron Physician 2016 Dec 25;8(12):3378-3384. Epub 2016 Dec 25.
    Research Assistant, Molecular and Cellular Research Center, Shahrekord University of Medical Sciences, Shahrekord, Iran.
    Background: Temperament refers to four different humors differentiating in individuals and, as a result, proposes specific therapy for diseases as well as special types of management (avoidance).

    Objective: The aim of this study was to overview the relationship between dystemprament and treatment and management of diseases.

    Methods: A computerized search of published articles was performed using PubMed, Scopus, Web of Science, and Medline databases as well as local sources from 1965 to 2016. Read More

    Angiotensin II type II receptors and colonic dysmotility in 2,4-dinitrofluorobenzenesulfonic acid-induced colitis in rats.
    Neurogastroenterol Motil 2017 Feb 3. Epub 2017 Feb 3.
    Dipartimento di Scienze e Tecnologie Biologiche Chimiche e Farmaceutiche (STEBICEF), Laboratorio di Fisiologia generale, Università di Palermo, Palermo, Italy.
    Background: Angiotensin II (Ang II), the main peptide of the renin-angiotensin system (RAS), has been suggested to be involved in inflammatory bowel diseases. Since RAS has emerged as gut motility regulator, and dysmotility is associated with intestinal inflammation, our objective was to investigate in rat 2,4-dinitrobenzenesulfonic acid (DNBS)-induced colitis the functionality of RAS and its contribution to colonic motor alterations.

    Methods: The effects of Ang II on the longitudinal colonic muscular contractility of control and DNBS-treated rats were characterized in vitro. Read More

    Evidence of Some Natural Products with  Antigenotoxic Effects. Part 1: Fruits and  Polysaccharides.
    Nutrients 2017 Feb 2;9(2). Epub 2017 Feb 2.
    Escuela Superior de Medicina, Instituto Politécnico Nacional, Unidad Casco de Santo Tomas, Plan de San Luis y Díaz Mirón s/n, México D.F. 11340, México.
    Cancer is one of the leading causes of deaths worldwide. The agents capable of causing damage to genetic material are known  as genotoxins and, according to their mode of action, are classified into mutagens, carcinogens or teratogens. Genotoxins are  involved in the pathogenesis of several chronic degenerative diseases including hepatic, neurodegenerative and cardiovascular  disorders, diabetes, arthritis, cancer, chronic inflammation and ageing. Read More

    UTE-T2(⁎) Analysis of Diseased and Healthy Achilles Tendons and Correlation with Clinical Score: An In Vivo Preliminary Study.
    Biomed Res Int 2017 5;2017:2729807. Epub 2017 Jan 5.
    Department of Radiology, Huashan Hospital, Fudan University, Shanghai, China.
    Objective. To compare T2(⁎) value of healthy and diseased Achilles tendons (AT) with a recently introduced three-dimensional ultrashort echo time (3D-UTE) sequence and analyze the correlation between T2(⁎) value and clinical scores. Methods. Read More

    DMDtoolkit: a tool for visualizing the mutated dystrophin protein and predicting the clinical severity in DMD.
    BMC Bioinformatics 2017 Feb 2;18(1):87. Epub 2017 Feb 2.
    Department of Neurology, General Hospital of Chinese People's Armed Police Forces, Beijing, 100039, China.
    Background: Dystrophinopathy is one of the most common human monogenic diseases which results in Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD). Mutations in the dystrophin gene are responsible for both DMD and BMD. However, the clinical phenotypes and treatments are quite different in these two muscular dystrophies. Read More

    Comparison of immunohematological profile between endurance- and power-oriented elite athletes.
    Appl Physiol Nutr Metab 2016 Nov 9:1-6. Epub 2016 Nov 9.
    a Physiology and Biochemistry of Exercise Laboratory, Interdisciplinary Center for Human Performance Study (CIPER), Faculdade de Motricidade Humana, Universidade Lisboa, Estrada da Costa, 1499-002 Cruz-Quebrada, Portugal.
    There is general perception that elite athletes are highly susceptible to changes in immunohematological profile. The objective of this study was to compare immunohematological parameters of elite athletes of different aerobic and muscular strength sports and analyze changes over 2 months. Sixteen judoists and 14 swimmers were evaluated 2 months before (M1) and immediately prior to competition (M2). Read More

    Comparison between ultrasound-guided interfascial pulsed radiofrequency and ultrasound-guided interfascial block with local anesthetic in myofascial pain syndrome of trapezius muscle.
    Medicine (Baltimore) 2017 Feb;96(5):e6019
    aDepartment of Physical Medicine and Rehabilitation, College of Medicine, Yeungnam University bDepartment of Medical Statistics, College of Medicine, Catholic University of Daegu, Daegu, Republic of Korea.
    Myofascial pain syndrome (MPS) of the trapezius muscle (TM) is a frequently occurring musculoskeletal disorder. However, the treatment of MPS of the TM remains a challenge. We investigated the effects of ultrasound (US)-guided pulsed radiofrequency (PRF) stimulation on the interfascial area of the TM. Read More

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