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Neurogastroenterol Motil 2019 Apr 23:e13599. Epub 2019 Apr 23.

Rheumatology Unit, University of Pisa, Pisa, Italy.

Background: Swallowing impairment is frequently present in patients with idiopathic inflammatory myopathies (IIMs), and it represents an important cause of morbidity, dramatically reducing the quality of life of patients. Moreover, dysphagia is associated to a worst prognosis. Unfortunately, no standardized instrumental techniques for the assessment of the upper gastrointestinal tract in IIM patients are available. Read More

Med Res Rev 2019 Apr 23. Epub 2019 Apr 23.

Dipartimento di Neuroscienze, Riabilitazione, Oftalmologia, Genetica e Scienze Materno-Infantili (DINOGMI), University of Genova, Genova, Italy.

Creatine is pivotal in energy metabolism of muscle and brain cells, both in physiological and in pathological conditions. Additionally, creatine facilitates the differentiation of muscle and neuronal cells. Evidence of effectiveness of creatine supplementation in improving several clinical conditions is now substantial, and we review it in this paper. Read More

Int J Mol Sci 2019 Apr 19;20(8). Epub 2019 Apr 19.

Molecular Cardiology Laboratory, IRCCS Policlinico San Donato, San Donato Milanese, 20097 Milan, Italy.

Circular RNAs (circRNAs) constitute a recently re-discovered class of non-coding RNAs functioning as sponges for miRNAs and proteins, affecting RNA splicing and regulating transcription. CircRNAs are generated by "back-splicing", which is the linking covalently of 3'- and 5'-ends of exons. Thus, circRNA levels might be deregulated in conditions associated with altered RNA-splicing. Read More

J Pediatr (Rio J) 2019 Apr 19. Epub 2019 Apr 19.

Universidade Federal do Rio de Janeiro (UFRJ), Departamento de Pediatria, Genética Clínica, Rio de Janeiro, RJ, Brazil.

Background: Duchenne muscular dystrophy, an X-linked genetic disease, leads to progressive muscle weakness mainly in the lower limbs. Motor function tests help to monitor disease progression. Can low-cost, simple assessments help in the diagnostic suspicion of Duchenne muscular dystrophy? The authors aim to define the sensitivity of time to rise from the floor, time to walk 10meters (10MWT), and time to run 10meters (10MRT), evaluating them as eventual diagnostic screening tools. Read More

Nucleic Acid Ther 2019 Apr 22. Epub 2019 Apr 22.

1 Université de Versailles St- Quentin, U1179 INSERM, UFR des Sciences de la Santé, Montigny le Bretonneux, France.

Antisense oligonucleotides (ASOs) hold promise for therapeutic splice switching correction for genetic diseases, in particular for Duchenne muscular dystrophy (DMD), for which ASO-exon skipping represents one of the most advanced therapeutic strategies. We have previously reported the therapeutic potential of tricyclo-DNA (tcDNA) in mouse models of DMD, highlighting the unique pharmaceutical properties and unprecedented uptake in many tissues after systemic delivery, including the heart and central nervous system. TcDNA-ASOs demonstrate an encouraging safety profile and no particular class-related toxicity, however, when administered in high doses for several months, mild renal toxicity is observed secondary to predictable phosphorothioate (PS)-ASO accumulation in kidneys. Read More

Medicine (Baltimore) 2019 Apr;98(16):e15206

Department of Nephrology.

Rationale: Cyclosporine A (CsA) is a potent immunosuppressive agent originally used to prevent rejection after organ transplantation but now more frequently used for treatment of refractory autoimmune diseases. It can induce adverse effects, such as nephrotoxicity, gastrointestinal reactions, and gingival hyperplasia whist myopathy with subacute muscular atrophy are rare.

Patient Concerns: A 55-year-old male patient with idiopathic membranous nephropathy treated with cyclosporine A at 3 mg/kg/d and prednisone at 0. Read More

Adv Biomed Res 2019 28;8:23. Epub 2019 Mar 28.

Department of Infectious Diseases, Isfahan University of Medical Sciences, Isfahan, Iran.

Muscular hydatid cyst is a rare condition mainly secondary to the cysts from other organs. We hereby present an uncommon case of primary hydatid cyst found in the right biceps brachii muscle of a 36-year-old male. Magnetic resonance revealed no involvement in any other part of his body. Read More

J Pediatr (Rio J) 2019 Apr 18. Epub 2019 Apr 18.

Universidade Federal da Bahia (UFBA), Instituto de Ciências da Saúde, Programa de Pós-Graduação em Processos Interativos dos Órgãos e Sistemas, Salvador, BA, Brazil; Universidade Federal do Rio Grande do Sul (UFRGS), Faculdade de Medicina (FAMED), Departamento de Pediatria, Porto Alegre, RS, Brazil; Universidade Federal da Bahia (UFBA), Complexo Hospitalar Universitário Professor Edgard Santos (HUPES), Serviço de Gastroenterologia e Hepatologia Pediátricas, Salvador, BA, Brazil.

Objective: To investigate the occurrence of sarcopenia in children and adolescents with chronic liver disease.

Methods: A series of cases, with patients aged 6-19 years of both genders, who were treated in Liver Outpatient Clinics. Weight, height, muscle strength (assessed by manual grip strength), and muscle mass (estimated through dual-energy X-ray absorptiometry) were measured. Read More

Muscle Nerve 2019 Apr 20. Epub 2019 Apr 20.

National Institute of Nursing Research, NIH, Bethesda, MD, USA.

Introduction: The purpose of this study was to obtain a 6-month natural history of motor function performance in individuals with RYR1-RM using the Motor Function Measure (MFM-32) and graded functional tests (GFTs), while facilitating preparation for interventional trials.

Methods: A total of 34 participants completed the MFM-32 and GFTs at baseline and 6-month visits.

Results: Motor deficits using MFM-32 were primarily observed in the standing and transfers domain (D1, mean 71%). Read More

Neurol Sci 2019 Apr 19. Epub 2019 Apr 19.

Department of Internal Medicine, Faculty of Medicine Ramathibodi Hospital, Mahidol University, Bangkok, Thailand.

Spinal muscular atrophy (SMA) is one of the leading causes of death in infants and young children from heritable diseases. Patients diagnosed with SMA develop symmetrical progressive muscle weakness and atrophy from degeneration of alpha motor neurons. Approximately 95% of patients have a homozygous deletion of survival motor neuron 1 (SMN1) gene in exon 7 and inherited in autosomal recessive pattern. Read More

J Spinal Cord Med 2019 Apr 18:1-7. Epub 2019 Apr 18.

b Department of pathology , Shariati Hospital, Tehran University of Medical Sciences , Tehran , Iran.

Objective: To examine the hypothesis that what is the concomitant mechanism of action botulinum toxin type A (BoNTA) administration by intravesical electromotive into the bladder resulting in bladder function improvement. We also tried to confirm the possibility of retrograde trans-axonal transportation of toxin.

Design: Animal study. Read More

RMD Open 2019 28;5(1):e000850. Epub 2019 Mar 28.

Division of Rheumatology, Department of Internal Medicine, The Jikei University School of Medicine, Tokyo, Japan.

Objective: To define the characteristic findings on MRI of skeletal muscles in patients with dermatomyositis (DM) relative to those in patients with other idiopathic inflammatory myopathies (IIMs) and to assess their diagnostic performance in DM.

Methods: Thirty-six patients with DM, 17 patients with amyopathic DM, 19 patients with polymyositis and 16 patients with non-IIM classified by the 2017 European League Against Rheumatism/American College of Rheumatology criteria were included in this study. The following MRI findings (short-tau inversion recovery [STIR] and gadolinium-enhanced fat-suppressed T1-weighted imaging [Gd-T1WI]) for proximal limb muscles were compared between the disease groups and between myositis-specific autoantibodies/myositis-associated autoantibodies (MSAs/MAAs)-positive and MSAs/MAAs-negative groups: structures with high signal intensity (HSI) (subcutaneous, fascia, muscle); distributions of HSI areas in muscle (diffuse, patchy, peripheral) and patterns of HSI in muscle (honeycomb, foggy, strong HSI). Read More

BMJ Case Rep 2019 Apr 16;12(4). Epub 2019 Apr 16.

Department of Internal Medicine, University of Texas Southwestern Medical Center, Dallas, Texas, USA.

A 61-year-old Hispanic man presented to a county hospital for subacute progressive weakness, heliotrope rash and dysphagia. There was initial suspicion for dermatomyositis (DM) given the history; however, the physical exam was not consistent. An MRI followed by a muscle biopsy revealed necrotising autoimmune myositis and anti-3-hydroxy-3-methylglutary-coenzyme A-reductase antibody titers returned positive; the patient was diagnosed with necrotising autoimmune myositis. Read More

Ann Rheum Dis 2019 Apr 17. Epub 2019 Apr 17.

Department of Internal Medicine 3, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany.

Neuromuscul Disord 2019 Feb 20. Epub 2019 Feb 20.

Friedrich-Baur-Institute, Dep. of Neurology, Ludwig-Maximilians-University of Munich, Ziemssenstraße 1A, 80336 Munich, Germany. Electronic address:

Neurofilaments are structural components of motor axons. Recently different variants resulting in translation of a cryptic amyloidogenic element of the neurofilament-heavy polypeptide (NEFH) gene have been described to cause Charcot-Marie-Tooth disease type 2CC (CMT2CC) by forming amyloidogenic toxic protein aggregation. Until now only few CMT2CC patients have been described. Read More

Neurocase 2019 Apr 16:1-4. Epub 2019 Apr 16.

c Department of Neuroscience, Reproductive and Odontostomatological Sciences, Epilepsy Centre , "Federico II" University of Naples , Naples , Italy.

Many neuropsychiatric phenotypes have been reported in association with rearrangements in the 15q11-q13 region. Clinical presentations can include hypotonia, developmental delay, severe/moderate intellectual disabilities, poor expressive language, difficult to treat epilepsy, and autism spectrum disorders. Here we report an additional case of a girl with inversion duplication on chromosome 15 (Inv-Dup 15) showing a peculiar and milder clinical phenotype, including atypical high-functioning autism disorder, late onset and drug-responsive epilepsy, and a relatively good language development . Read More

Muscle Nerve 2019 Apr 16. Epub 2019 Apr 16.

Department of Human Genetics, Emory University School of Medicine, Atlanta, GA, USA.

Introduction: UDP N-acetylglucosamine2-epimerase/N-acetylmannosamine-kinase (GNE) gene mutations can cause mostly autosomal-recessive myopathy with juvenile-onset known as hereditary-inclusion-body-myopathy (HIBM).

Methods: We describe a family of a patient showing an unusual HIBM with both vacuolar myopathy and myositis without quadriceps-sparing, hindering diagnosis. We show how genetic testing with functional assays, clinical transcriptome sequencing (RNA-seq) in particular, helped facilitate both the diagnosis and a better understanding of the genotype-phenotype relationship. Read More

JCI Insight 2019 Apr 16;5. Epub 2019 Apr 16.

Nemaline myopathy is a congenital neuromuscular disorder characterized by muscle weakness, fiber atrophy and presence of nemaline bodies within myofibers. However, the understanding of underlying pathomechanisms is lacking. Recently, mutations in KBTBD13, KLHL40 and KLHL41, three substrate adaptors for the E3-ubiquitin ligase Cullin-3, have been associated with early-onset nemaline myopathies. Read More

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

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

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

Neuromuscul Disord 2019 Mar 2. Epub 2019 Mar 2.

Department of Neurology, Mayo Clinic, 200 First Street SW, Rochester, MN 55905, USA. Electronic address:

Actinopathy is a group of clinically and pathologically heterogeneous myopathies due to mutations in the skeletal muscle sarcomeric α-actin 1-encoding gene (ACTA1). Disease-onset spans from prenatal life to adulthood and weakness can preferentially affect proximal or distal muscles. Myopathological findings include a spectrum of structural abnormalities with nemaline rods being the most common. Read More

Mitochondrion 2019 Apr 12. Epub 2019 Apr 12.

Medical Genetics-Neurogenetics, IRCCS Foundation, C. Besta Neurological Institute, Milan, Italy. Electronic address:

Congenital Muscular Dystrophies (CMDs) are a heterogeneous group of autosomal recessive disorders presenting at birth with psychomotor delay, cognitive impairment, muscle weakness and hypotonia. Here we described an alteration of mitochondrial inner membrane potential and mitochondrial network in cells derived from Italian patients carrying three novel mutations in CHKB gene, recently associated with "megaconial CMD". On the bases of our findings, we hypothesize that the mitochondrial membrane potential alteration, presumably as a consequence of the altered biosynthesis of phosphatidylcholine, could be responsible for the peculiar morphological aspect of mitochondria in this disease and might be involved in the disease pathogenesis. Read More

Medicine (Baltimore) 2019 Apr;98(15):e15147

Department of Pathology, The First Hospital and College of Basic Medical Sciences, China Medical University, Shenyang, Liaoning Province, China.

Rationale: Malignant mesothelioma is a malignant tumor with poor prognosis, which usually originates in the pleura, peritoneum, and pericardial cavity. Mesotheliomas that originate from the diaphragm are very rare. Here, we report a case of primary malignant mesothelioma of the diaphragm with liver invasion. Read More

Medicine (Baltimore) 2019 Apr;98(15):e15128

Central Michigan University (CMU) College of Medicine, Mt. Pleasant, MI.

The purpose of this study is to examine the treatment of noncancer musculoskeletal pain in different clinical settings by assessing patient demographics, pain diagnoses, opioid analgesic monitoring, and alternative treatments.Data was collected in a retrospective chart review involving 300 randomly selected charts with an active musculoskeletal diagnosis based on the 10th revision of the International Statistical Classification of Diseases and Related Health Problems codes. The population consisted of primary care outpatient clinic and emergency department encounters during the timeframe of January 1, 2016 to March 31, 2016 in a predominantly rural community in Michigan. Read More

Front Physiol 2019 29;10:287. Epub 2019 Mar 29.

Department of Neurosciences, Mario Negri Institute for Pharmacological Research IRCCS, Milan, Italy.

Skeletal muscle is a highly vascularized tissue that can secrete proteins called myokines. These muscle-secreted factors exert biological functions in muscle itself (autocrine effect) or on short- or long-distant organs (paracrine/endocrine effects) and control processes such as metabolism, angiogenesis, or inflammation. Widely differing diseases ranging from genetic myopathies to cancers are emerging as causing dysregulated secretion of myokines from skeletal muscles. Read More

G Ital Nefrol 2019 Apr;36(2)

UOSVD di Nefrologia e Dialisi ASL Bari. Sede Direzionale: Osp. "S. Maria degli Angeli" Putignano.

Fatty acid oxidation disorders are inborn errors of metabolism. One of the possible alterations involves the failure of the carnitin-based transport of long-chain fatty acids into the mitochondria, necessary for muscle metabolism in case of prolonged physical exertion. Three kinds of Carnitin-Palmitoyl Transferase type 2 (CPT2) deficiency have been described: a myopathic form, a severe infantile form and a neonatal form. Read More

Int J Vitam Nutr Res 2019 Apr 15:1-6. Epub 2019 Apr 15.

4 Digestive Diseases Research Center, Shariati Hospital, Tehran University of Medical Sciences, Tehran, Iran.

Purpose: In inflammatory bowel disease increased asymmetric dimethylarginine (ADMA) levels could inhibit nitric oxide (NO) synthase. Vitamin D may increase activity and expression of endothelial NO synthase, which could be done through its possible mechanism of decreasing ADMA levels. The aim of this study is to investigate the possible effect of Vitamin D3 on serum ADMA levels in ulcerative colitis (UC) patients. Read More

Neurology 2019 Apr 12. Epub 2019 Apr 12.

From the Peripheral Nervous System (S.S., M.G., C.C., A.P.), Muscle & ALS Department, Pasteur 2 Hospital, Centre Hospitalier Universitaire de Nice, and Institute for Research on Cancer and Aging of Nice (S.S., C.B., N.L., P.N., G.C.), CNRS, INSERM, Université Côte d'Azur; Department of Genetics and Molecular Biology (A.B.-S., S.R., M.J.), Cochin Hospital, Paris, France; Department of Human Genetics (R.J.L.F.L., S.M.v.d.M.), Leiden University Medical Center, the Netherlands; Rare Neuromuscular Diseases Centre (C.C.), Department of Human Neuroscience, Sapienza University of Rome, Italy; Pathology Department (F.C.), CHRU of Caen, INSERM U1075, University of Caen, Normandy; Myology Institute (T.S., A.B., B.E.), Center of Research in Myology, APHP, Sorbonne Université, UPMC Univ Paris 06, INSERM UMRS974, CNRS FRE3617, Paris; Electromyography and Neuromuscular Department (C.V., F.B., P.P.), Neurologic Hospital, Lyon East Hospital Group, Lyon-Bron, France; Neuromuscular Center, Department of Neuroscience (M.C., E.P.), and Clinical Genetics Unit, Department of Women's and Children's Health (L.S.), University of Padova, Italy; Institut Imagine, Imagine Bioinfomatics Platform (M.B.), Paris Descartes University; Département de Neurologie (A.E.-L.), Hôpitaux Universitaires, Strasbourg; Nord/Est/Ile de France Neuromuscular Center (P.L.), Neurology Department, Raymond Poincaré Teaching Hospital, Garches; INSERM U1179 (P.L.), END-ICAP, Versailles Saint-Quentin-en-Yvelines University, Montigny-le-Bretonneux, France; and IRP Città della Speranza (L.S.), Padova, Italy.

Objective: To compare the clinical features of patients showing a classical phenotype of facioscapulohumeral muscular dystrophy (FSHD) with genetic and epigenetic characteristics of the FSHD1 and FSHD2 loci D4Z4 and .

Methods: This is a national multicenter cohort study. We measured motor strength, motor function, and disease severity by manual muscle testing sumscore, Brooke and Vignos scores, clinical severity score (CSS), and age-corrected CSS, respectively. Read More

Clin Investig Arterioscler 2019 Apr 9. Epub 2019 Apr 9.

Unidad de Lípidos, Servicio de Medicina Interna, Hospital San Pedro, Logroño, La Rioja, España.

Statins are contraindicated in patients with myopathies. Until a few years ago, in those patients with Familial Hypercholesterolemia who also presented muscular dystrophies and didńt reach adequate cholesterol plasmatic levels, the next therapeutic ladder was lipoapheresis. When iPCSK9 first appeared, lipoapheresis could be suspended in some of these patients, sustaining nevertheless proper levels of cholesterol. Read More

Eur J Rheumatol 2019 Mar 10. Epub 2019 Mar 10.

Department of Rheumatology, Royal Hallamshire Hospital, Sheffield Teaching Hospitals NHS Foundation Trust, Sheffield, UK.

J Neurol Neurosurg Psychiatry 2019 Apr 11. Epub 2019 Apr 11.

Department of Internal Medicine and Clinical Immunology, Sorbonne Université, University Pierre et Marie et Curie, APHP, Hôpital Pitié-Salpêtrière, Paris, France.

Redox Biol 2019 Apr 3;24:101183. Epub 2019 Apr 3.

Unit of Biology and Genetics, Department of Movement, Human and Health Sciences, University of Rome "Foro Italico", Piazza Lauro de Bosis 15, 00135, Rome, Italy. Electronic address:

Besides its substantial role in eye lens, αB-crystallin (HSPB5) retains fundamental function in striated muscle during physiological or pathological modifications. In this study, we aimed to analyse the cellular and molecular factors driving the functional response of HSPB5 protein in different muscles from mice subjected to an acute bout of non-damaging endurance exercise or in C2C12 myocytes upon exposure to pro-oxidant environment, chosen as "in vivo" and "in vitro" models of a physiological stressing conditions, respectively. To this end, red (GR) and white gastrocnemius (GW), as sources of slow-oxidative and fast-glycolytic/oxidative fibers, as well as the soleus (SOL), mainly composed of slow-oxidative type fibers, were obtained from BALB/c mice, before (CTRL) and at different times (0', 15', 30' 120') following 1-h of running. Read More

Am J Phys Med Rehabil 2019 Apr 17. Epub 2019 Apr 17.

Rehabilitation Research Center at Santa Clara Valley Medical Center, San Jose, CA.

Mechanical insufflation-exsufflation (MIE), or "cough-assist" is a commonly used method of clearing tracheal and pulmonary secretions in patients with respiratory insufficiency secondary to spinal cord injury (SCI). This report presents a novel technique termed the Pharyngeal Clearance Maneuver (PCM) which utilizes a modified application of the MIE device to mobilize "secretion burden" at the portion of the trachea above the tracheostomy cuff during cuff deflation. Utilization of this strategy may reduce the risk of aspiration, infection, and respiratory compromise for patients with high cervical SCI in the acute rehabilitation setting. Read More

Muscle Nerve 2019 Apr 10. Epub 2019 Apr 10.

Department of Neurology, University of Colorado School of Medicine, Denver, Colorado, USA.

Introduction: The utility of repeat muscle biopsy has not been adequately evaluated.

Methods: A retrospective review was undertaken of 144 repeat muscle biopsies performed from 1980 to 2017. Repeat biopsy was considered clinically relevant if it provided a new diagnosis, changed the existing diagnosis, or led to treatment changes or further investigations. Read More

Am J Case Rep 2019 Apr 11;20:499-502. Epub 2019 Apr 11.

Department of Diagnostic Radiology, Tan Tock Seng Hospital, Singapore, Singapore.

BACKGROUND Acute muscular sarcocystosis (AMS) is one of a spectrum of diseases caused by the Sarcocystis parasite which infects humans in regions where it is endemic. Infections present with non-specific signs and symptoms and have been known to occur in clusters. CASE REPORT A 51-year-old Vietnamese male presented to Tan Tock Seng Hospital, Singapore with 3 weeks of fever, urticarial rash, non-productive cough, and lower back pain. Read More

Int J Rheum Dis 2019 Apr 10. Epub 2019 Apr 10.

Servicio de Reumatología, Hospital General Universitario Gregorio Marañón, Madrid, Spain.

Background: Inflammatory idiopathic myositis (IIM) comprises a heterogeneous group of systemic muscular diseases that can occur together with other connective tissue diseases (CTD), named overlap myositis (OM). The question of whether OM is a distinct entity still remains controversial.

Aim: The present study was conducted to assess the clinical and prognostic differences between patients diagnosed with OM, primary polymyositis (PM) and primary dermatomyositis (DM). Read More

Respir Physiol Neurobiol 2019 Apr 6;264:33-39. Epub 2019 Apr 6.

Department of Cardiovascular and Respiratory Sciences, Sapienza University of Rome, Italy.

Patient with idiopathic pulmonary hypertension (IPAH) develop peripheral inefficiency which could lead to an increase total energy expenditure and that could have a significant prognostic impact. To test the hypothesis, fifty-five consecutive stable IPAH patients (mean age 51±17 years) and 24 matched controls underwent an incremental exercise test and followed for a 5 years' period. Total energy expenditure was assessed as the ratio between total [Formula: see text] uptake (during both effort and recovery) and total external work ( [Formula: see text] ). Read More

Ann Biomed Eng 2019 Apr 8. Epub 2019 Apr 8.

Department of Biomedical Engineering, Duke University, Durham, NC, 27705, USA.

A number of significant muscle diseases, such as cachexia, sarcopenia, systemic chronic inflammation, along with inflammatory myopathies share TNF-α-dominated inflammation in their pathogenesis. In addition, inflammatory episodes may increase susceptibility to drug toxicity. To assess the effect of TNF-α-induced inflammation on drug responses, we engineered 3D, human skeletal myobundles, chronically exposed them to TNF-α during maturation, and measured the combined response of TNF-α and the chemotherapeutic doxorubicin on muscle function. Read More

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

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

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

Proc Natl Acad Sci U S A 2019 Apr 8;116(17):8397-8402. Epub 2019 Apr 8.

Molecular Neurobiology Group, Institute of Physiological Chemistry, University of Marburg, 35032 Marburg, Germany;

Actin filaments (F-actin) are key components of sarcomeres, the basic contractile units of skeletal muscle myofibrils. A crucial step during myofibril differentiation is the sequential exchange of α-actin isoforms from smooth muscle (α-SMA) and cardiac (α-CAA) to skeletal muscle α-actin (α-SKA) that, in mice, occurs during early postnatal life. This "α-actin switch" requires the coordinated activity of actin regulators because it is vital that sarcomere structure and function are maintained during differentiation. Read More

Eur J Paediatr Neurol 2019 Mar 21. Epub 2019 Mar 21.

Department of Neuropediatrics and Muscle Disorders, Medical Center - University of Freiburg, Faculty of Medicine, Freiburg, Germany.

Objectives: To systematically review the literature of quality of life (QoL) of patients with spinal muscular atrophy (SMA), a rare, autosomal-recessive neuromuscular disease associated with extensive morbidity and elevated mortality.

Methods: We searched Embase, Web of Science, and PubMed for full-text, English-language articles (published between January 1, 2000 and July 31, 2018) reporting results from studies of QoL of patients with SMA. We excluded review and editorial articles, studies reporting results for samples comprising <5 patients (to allow for meaningful inference), and case reports/qualitative assessments. Read More

BMC Musculoskelet Disord 2019 Apr 9;20(1):152. Epub 2019 Apr 9.

Department of Diagnostic and Interventional Neuroradiology, Klinikum rechts der Isar, Technische Universität München, Munich, Germany.

Background: Magnetic resonance imaging (MRI) is the modality of choice for diagnosing and monitoring muscular tissue pathologies and bone marrow alterations in the context of lower back pain, neuromuscular diseases and osteoporosis. Chemical shift encoding-based water-fat MRI allows for reliable determination of proton density fat fraction (PDFF) of the muscle and bone marrow. Prior to quantitative data extraction, segmentation of the examined structures is needed. Read More

Clin Chim Acta 2019 Apr 5;495:123-128. Epub 2019 Apr 5.

Department of Cardiovascular Medicine, Fukushima Medical University, Fukushima, Japan.

Titin, encoded by the gene TTN, is the largest human protein, and plays central roles in sarcomeric structures and functions in skeletal and cardiac muscles. Mutations of TTN are causally related to specific types of muscular dystrophies and cardiomyopathies. A developed methodology of next generation sequencing has recently led to the identification of novel TTN mutations in such diseases. Read More

J Clin Neurosci 2019 Apr 4. Epub 2019 Apr 4.

Department of Neurosciences and Mental Health, Centro Hospitalar Universitário de Lisboa-Norte, Lisbon, Portugal; Instituto de Medicina Molecular and Instituto de Fisiologia, Faculdade de Medicina, Universidade de Lisboa, Portugal.

Distal myopathies are a clinically and genetically heterogeneous group characterized by distal weakness at onset. Distal myopathies are classified according to age of onset, inheritance pattern, clinical features and molecular diagnosis. Inclusion body myopathy with early-onset Paget disease and fronto-temporal dementia is a rare adult late-onset disease related to valosin-containing protein gene mutations with an autosomal dominance inheritance. Read More

Zhonghua Bing Li Xue Za Zhi 2019 Apr;48(4):298-302

Beijing Neurosurgical Institute, Beijing Tiantan Hospital, Capital Medical University, Beijing 100070, China.

To investigate the ultrastructural features of muscle in patients with mitochondrial encephalomyopathy for its diagnosis and differential diagnosis. The clinical data of 27 mitochondrial encephalomyopathy patients who underwent left or right biceps brachii muscle biopsy at Department of Neurosurgery, Beijing Tiantan Hospital, Capital Medical University from July 2006 to August 2017 were analyzed retrospectively. The muscle biopsy specimens were examined underlight microscope and transmission electron microscope. Read More

Anticancer Res 2019 Apr;39(4):1965-1969

Department of Orthopaedic Surgery, Graduate School of Medical Sciences, Kanazawa University, Kanazawa, Japan.

Background/aim: For cases of musculoskeletal sarcoma of the knee presenting to our institute, we prioritize joint preservation whenever possible. To investigate patient satisfaction and desire for joint preservation, a questionnaire survey was performed.

Patients And Methods: Surveys were mailed to 62 patients with musculoskeletal sarcoma of the knee. Read More

Anticancer Res 2019 Apr;39(4):1959-1964

Department of Orthopaedic Surgery, Graduate School of Medical Sciences, Kanazawa University, Kanazawa, Japan.

Background/aim: At our institute, we prioritize joint-preservation whenever possible in cases of musculoskeletal knee sarcoma. This study aimed to evaluate patient satisfaction after joint-preservation surgery using different scales.

Patients And Methods: Surveys were mailed to 62 patients with musculoskeletal knee sarcoma. Read More

Clin Immunol 2019 Apr 2;203:9-13. Epub 2019 Apr 2.

Department of Pediatrics and Developmental Biology, Graduate School of Medical and Dental Sciences, Tokyo Medical and Dental University (TMDU), Tokyo, Japan. Electronic address:

Immune dysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) syndrome is one of the inborn errors of immunity, characterized by impaired function of the regulatory T cells. Clinical manifestations of IPEX syndrome are characterized by various autoimmune diseases with autoantibodies. The comprehensive analysis for autoantibodies using human proteome microarrays in the four patients with IPEX syndrome was performed. Read More

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

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

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

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

Front Cell Dev Biol 2019 19;7:38. Epub 2019 Mar 19.

Institute of Cancer and Genomic Sciences, College of Medical and Dental Sciences, University of Birmingham, Birmingham, United Kingdom.

Autophagy is an intracellular degradation pathway for malfunctioning aggregation-prone proteins, damaged organelles, unwanted macromolecules and invading pathogens. This process is essential for maintaining cellular and tissue homeostasis that contribute to organismal survival. Autophagy dysfunction has been implicated in the pathogenesis of diverse human diseases, and therefore, therapeutic exploitation of autophagy is of potential biomedical relevance. Read More

Front Immunol 2019 21;10:412. Epub 2019 Mar 21.

Section for Experimental Neuropsychiatry, Department of Psychiatry and Psychotherapy, Medical Center-University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany.

Mitochondrial diseases are caused by dysfunctions in mitochondrial metabolic pathways. MELAS syndrome is one of the most frequent mitochondrial disorders; it is characterized by encephalopathy, myopathy, lactic acidosis, and stroke-like episodes. Typically, it is associated with a point mutation with an adenine-to-guanine transition at position 3243 of the mitochondrial DNA (mtDNA; m. Read More