Search Our Scientific Publications & Authors

J Gerontol A Biol Sci Med Sci 2020 Jun 3. Epub 2020 Jun 3.

University of Massachusetts Amherst.

Skeletal muscle myopathies represent a common non-pulmonary manifestation of influenza infection, leading to reduced physical function and hospitalization in older adults. However, underlying mechanisms remain poorly understood. Our study examined the effects of influenza virus A pulmonary infection on contractile function at the cellular (single fiber) and molecular (myosin-actin interactions and myofilament properties) levels in soleus and extensor digitorum longus muscles of aged (20 months) C57BL/6 male mice that were healthy or flu infected for 7 (7-days post-infection; 7-DPI) or 12 days (12-DPI). Read More

Hawaii J Health Soc Welf 2020 May;79(5 Suppl 1):101-103

Tripler Army Medical Center, Honolulu, HI.

Infant botulism is a progressive process described as starting with descending weakness, facial palsies and constipation. Loss of bulbar reflexes and flaccid paralysis are common in infants less than 6 months old who have infant botulism. , the bacteria that produce the toxin that causes this condition, are ubiquitous in the United States including Hawai'i, but infant botulism is rarely reported here. Read More

Cureus 2020 Apr 28;12(4):e7875. Epub 2020 Apr 28.

Internal Medicine / Pulmonary and Critical Care, University of Kansas Medical Center, Kansas City, USA.

Background Interstitial lung disease (ILD) is a common pathologic consequence of the idiopathic inflammatory myopathies, and it may be the initial presentation of autoimmune disease in many cases. There are no well-established guidelines to direct the evaluation of this disease in these cases. This study looked at the utility of four common serologic tests to screen for a myositis-associated ILD. Read More

EMBO J 2020 Jun 3:e103812. Epub 2020 Jun 3.

Departamento de Biología Molecular, Centro de Biología Molecular "Severo Ochoa" (CBMSO), Universidad Autónoma de Madrid, Madrid, Spain.

It is controversial whether mitochondrial dysfunction in skeletal muscle is the cause or consequence of metabolic disorders. Herein, we demonstrate that in vivo inhibition of mitochondrial ATP synthase in muscle alters whole-body lipid homeostasis. Mice with restrained mitochondrial ATP synthase activity presented intrafiber lipid droplets, dysregulation of acyl-glycerides, and higher visceral adipose tissue deposits, poising these animals to insulin resistance. Read More

Eur Radiol Exp 2020 Jun 3;4(1):33. Epub 2020 Jun 3.

Medical Molecular Imaging Group, Vall d'Hebron Research Institute (VHIR), CIBER-BBN, CIBBIM-Nanomedicine, ISCIII, Hospital Universitari Vall d'Hebron, Universitat Autònoma de Barcelona (UAB), Passeig de la Vall d'Hebron 119-129, 08035, Barcelona, Spain.

Background: Skeletal muscle injury characterisation during healing supports trauma prognosis. Given the potential interest of computed tomography (CT) in muscle diseases and lack of in vivo CT methodology to image skeletal muscle wound healing, we tracked skeletal muscle injury recovery using in vivo micro-CT in a rat model to obtain a predictive model.

Methods: Skeletal muscle injury was performed in 23 rats. Read More

Int J Environ Res Public Health 2020 May 30;17(11). Epub 2020 May 30.

School of Health and Kinesiology, University of Nebraska at Omaha, Omaha, NE 68182, USA.

Postmenopausal status is associated with increased risks for cardiovascular diseases (CVD). This study investigated differences in vascular function, lipids, body composition, and physical fitness in elderly postmenopausal women active in combined resistance and aerobic exercise (CRAE) training for 1 year versus a sedentary cohort of similar-in-age counterparts. Elderly postmenopausal women performing habitual CRAE training for 1 year (age ~75 year; CRAE, = 57) and elderly sedentary postmenopausal women (age ~78 year; SED, = 44) were recruited. Read More

Curr Mol Pharmacol 2020 Jun 2. Epub 2020 Jun 2.

Laboratory of Molecular Pharmacology, Faculty of Pharmaceutical Sciences, Setsunan University, Hirakata, Osaka. Japan.

Background: Among the various orphan G protein-coupled receptors, apelin receptor (APJ), originally identified in the human genome as an orphan G-protein-coupled receptor, was deorphanised in 1998 with the discovery of its endogenous ligand, apelin. Apelin and APJ mRNA are widely expressed in peripheral tissues and the central nervous system in mammals.

Objective: In this review, we discuss the characteristics, pharmacology, physiology, and pathology of the apelin/APJ system in mammals. Read More

Cureus 2020 Apr 27;12(4):e7862. Epub 2020 Apr 27.

Medicine, Nishtar Hospital, Nishtar Medical University, Multan, PAK.

Mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes (MELAS) usually manifests in early life. Clinical hallmarks of the disease are mitochondrial myopathies, encephalopathy with stroke-like episodes, seizures, and lactic acidosis. It rarely manifests in late adulthood. Read More

Theranostics 2020 16;10(14):6448-6466. Epub 2020 May 16.

Key Laboratory of Biorheological Science and Technology, Ministry of Education, College of Bioengineering, Chongqing University, Chongqing 400044, China.

: The exhaustion of muscle satellite cells (SCs) is correlated with muscle diseases, including sarcopenia and Duchenne muscular dystrophy. Exercise benefits skeletal muscle homeostasis and promotes proliferation of SCs. Elucidating the molecular mechanism underlying the muscle function-improving effect of exercise has important implications in regenerative medicine. Read More

Sci Rep 2020 Jun 1;10(1):8865. Epub 2020 Jun 1.

Department of Sport Medicine and Functional Explorations-CRNH Auvergne, Clermont-Ferrand University Hospital, G. Montpied Hospital, Clermont-Ferrand, F-63000, France.

Metabolic myopathies comprise a diverse group of inborn errors of intermediary metabolism affecting skeletal muscle, and often present clinically as an inability to perform normal exercise. Our aim was to use the maximal mechanical performances achieved during two functional tests, isometric handgrip test and cycloergometer, to identify metabolic myopathies among patients consulting for exercise-induced myalgia. Eighty-three patients with exercise-induced myalgia and intolerance were evaluated, with twenty-three of them having a metabolic myopathy (McArdle, n = 9; complete myoadenylate deaminase deficiency, n = 10; respiratory chain deficiency, n = 4) and sixty patients with non-metabolic myalgia. Read More

Dis Model Mech 2020 May 21;13(5). Epub 2020 May 21.

Division of Neurobiology and Anatomy, Graduate School of Medical and Dental Sciences, Niigata University, Niigata 951-8510, Japan

Loss-of-function mutations in dystonin () can cause hereditary sensory and autonomic neuropathy type 6 (HSAN-VI) or epidermolysis bullosa simplex (EBS). Recently, -related diseases were recognized to be more complex than previously thought because a patient exhibited both neurological and skin manifestations, whereas others display only one or the other. A single locus produces at least three major isoforms: (neuronal isoform), (muscular isoform) and (epithelial isoform). Read More

Muscle Nerve 2020 Jun 1. Epub 2020 Jun 1.

Department of Neurology, Mayo Clinic, 200 1st Street SW, Rochester, Minnesota, 55905, USA.

Muscle disorders are characterized by differential involvement of various muscle groups. Among these, weakness predominantly affecting finger flexors is an uncommon pattern, most frequently found in sporadic inclusion-body myositis. This finding is particularly significant when the full range of histopathological findings of inclusion-body myositis is not found on muscle biopsy. Read More

J Clin Invest 2020 Jun;130(6):2766-2776

Muscular dystrophies are debilitating disorders that result in progressive weakness and degeneration of skeletal muscle. Although the genetic mutations and clinical abnormalities of a variety of neuromuscular diseases are well known, no curative therapies have been developed to date. The advent of genome editing technology provides new opportunities to correct the underlying mutations responsible for many monogenic neuromuscular diseases. Read More

Mol Genet Metab Rep 2020 Sep 24;24:100597. Epub 2020 May 24.

Neurology Department, Raymond Poincaré University Hospital, Garches, APHP, France.

Glycogen storage disease type XV (GSD XV) is a recently described muscle glycogenosis due to glycogenin-1 () deficiency characterized by the presence of polyglucosan bodies on muscle biopsy (Polyglucosan body myopathy-2, PGBM2). Here we describe a 44 year-old man with limb-girdle muscle weakness mimicking a limb-girdle muscular dystrophy (LGMD), and early onset exertional myalgia. Neurologic examination revealed a waddling gait with hyperlordosis, bilateral asymmetric scapular winging, mild asymmetric deltoid and biceps brachii weakness, and pelvic-girdle weakness involving the gluteal muscles and, to a lesser extent, the quadriceps. Read More

ESC Heart Fail 2020 May 31. Epub 2020 May 31.

Division of Cardiology, Department of Internal Medicine, Medical University of Graz, Auenbruggerplatz 15, 8036, Graz, Austria.

Aims: Cardiac involvement in myopathies that primarily affect the skeletal muscle is variable and may be subtle, necessitating sensitive diagnostic approaches. Here, we describe the prevalence of cardiac abnormalities in a cohort of patients with skeletal muscle disease presenting at a tertiary care neuromuscular centre.

Methods And Results: We systematically investigated patients with skeletal myopathies and comprehensively analysed their cardiac phenotype including 24 h electrocardiogram, echocardiography with strain analyses, contrast-enhanced cardiac magnetic resonance imaging, and, if at increased risk of coronary artery disease, computed tomography coronary angiography. Read More

Ann Intensive Care 2020 May 29;10(1):67. Epub 2020 May 29.

Department of Intensive Care Medicine, Amsterdam UMC, Location VUmc, Postbox 7057, 1007 MB, Amsterdam, The Netherlands.

Background: Inappropriate ventilator assist plays an important role in the development of diaphragm dysfunction. Ventilator under-assist may lead to muscle injury, while over-assist may result in muscle atrophy. This provides a good rationale to monitor respiratory drive in ventilated patients. Read More

Sci Rep 2020 May 29;10(1):8765. Epub 2020 May 29.

Department of Sport Medicine and Functional Explorations-CRNH Auvergne, Clermont-Ferrand University Hospital, G. Montpied Hospital, Clermont-Ferrand, F-63000, France.

Metabolic myopathies are muscle disorders caused by a biochemical defect of the skeletal muscle energy system resulting in exercise intolerance. The primary aim of this research was to evaluate the oxygen cost (∆V'O/∆Work-Rate) during incremental exercise in patients with metabolic myopathies as compared with patients with non-metabolic myalgia and healthy subjects. The study groups consisted of eight patients with muscle glycogenoses (one Tarui and seven McArdle diseases), seven patients with a complete and twenty-two patients with a partial myoadenylate deaminase (MAD) deficiency in muscle biopsy, five patients with a respiratory chain deficiency, seventy-three patients with exercise intolerance and normal muscle biopsy (non-metabolic myalgia), and twenty-eight healthy controls. Read More

Int J Mol Sci 2020 May 27;21(11). Epub 2020 May 27.

Department of Neurology, Laboratory of Neurogenetics, Faculty of Medicine, University of Thessaly, University Hospital of Larissa, 41110 Larissa, Greece.

Myopathies represent a wide spectrum of heterogeneous diseases mainly characterized by the abnormal structure or functioning of skeletal muscle. The current paper provides a comprehensive overview of cognitive deficits observed in various myopathies by consulting the main libraries (Pubmed, Scopus and Google Scholar). This review focuses on the causal classification of myopathies and concomitant cognitive deficits. Read More

J Peripher Nerv Syst 2020 May 29. Epub 2020 May 29.

Department of Advanced Medical and Surgical Sciences, Second Division of Neurology, University of Campania "Luigi Vanvitelli", Naples, Italy.

Background: Hereditary sensory and autonomic neuropathies (HSAN) encompass a group of peripheral nervous system disorders characterized by remarkable heterogeneity from a clinical and genetic point of view. Mutations in SPTLC1 gene are responsible for HSAN type IA, which usually starts from the second to fourth decade with axonal neuropathy, sensory loss, painless distal ulcerations and mild autonomic features, while motor involvement usually occur later as disease progresses.

Aim And Methods: Beyond the classic presentation of HSAN type IA, an exceedingly rare distinct phenotype related to SPTLC1 mutations at residue serine 331 (S331) has recently been reported, characterized by earlier onset, prominent muscular atrophy, growth retardation, oculo-skeletal abnormalities and possible respiratory complications. Read More

Physiol Res 2020 May 29. Epub 2020 May 29.

Department of Sports Medicine, Peking University Shenzhen Hospital, Shenzhen, Guangdong, China.

Circulating miRNAs have been proposed as the effective diagnostic biomarkers for muscular fibrosis-associated diseases. However, circulating biomarkers for early diagnosis of contracture muscles are limited in gluteal muscle contracture (GMC) patients. Here we sought to explore the abnormally expressed miRNAs in plasma and contraction bands of GMC patients. Read More

Hum Brain Mapp 2020 May 29. Epub 2020 May 29.

Department of Psychiatry, University of California San Diego, La Jolla, California, USA.

Epilepsy is a common and serious neurological disorder, with many different constituent conditions characterized by their electro clinical, imaging, and genetic features. MRI has been fundamental in advancing our understanding of brain processes in the epilepsies. Smaller-scale studies have identified many interesting imaging phenomena, with implications both for understanding pathophysiology and improving clinical care. Read More

Int J Mol Sci 2020 May 25;21(10). Epub 2020 May 25.

Department of Neuroscience Rita Levi Montalcini, University of Turin, 10126 Turin, Italy.

Mitochondria play a central role in a plethora of processes related to the maintenance of cellular homeostasis and genomic integrity. They contribute to preserving the optimal functioning of cells and protecting them from potential DNA damage which could result in mutations and disease. However, perturbations of the system due to senescence or environmental factors induce alterations of the physiological balance and lead to the impairment of mitochondrial functions. Read More

ACS Chem Biol 2020 May 27. Epub 2020 May 27.

Immunosuppressants used to treat autoimmunity are often not curative and have many side effects. Our purpose was to identify therapeutics for autoimmunity of the skeletal muscle termed idiopathic inflammatory myopathies (myositis). Recent evidence shows the pro-inflammatory type I interferons (IFN) and a down-stream product major histocompatibility complex (MHC) class I are pathogenic in myositis. Read More

Front Physiol 2020 7;11:461. Epub 2020 May 7.

Department of Animal Sciences, The Ohio State University, Wooster, OH, United States.

The poultry industry has placed significant emphasis on the selection of meat-type broilers for increased body weight, increased meat yield especially the pectoralis major (breast) muscle, decreased time to processing, and improved feed conversion Although significant improvements have occurred in fast-growing meat-type broilers, myopathies affecting meat quality especially in the pectoralis major muscle have occurred. Many of the broiler breast muscle myopathies are caused by inflammation leading to the necrosis of existing muscle fibers and resulting in replacement of the muscle fibers with extracellular matrix proteins especially fibrillar collagens, fibrosis. This review explores how the fibrotic deposition and organization of extracellular matrix proteins especially the fibrillar collagens, Types I and III, affects the phenotype of the Wooden Breast myopathy, functional properties of the pectoralis major muscle, and meat quality. Read More

Cells 2020 May 24;9(5). Epub 2020 May 24.

Department of Chemistry, Materials and Chemical Engineering "G.Natta", Politecnico di Milano, 20133 Milano, Italy.

Mechanotransduction translates forces into biological responses and regulates cell functionalities. It is implicated in several diseases, including laminopathies which are pathologies associated with mutations in lamins and lamin-associated proteins. These pathologies affect muscle, adipose, bone, nerve, and skin cells and range from muscular dystrophies to accelerated aging. Read More

Int J Mol Sci 2020 May 24;21(10). Epub 2020 May 24.

st Department of Neurology, Eginition Hospital, Medical School, National and Kapodistrian University of Athens, 157 80 Athens, Greece.

Congenital myopathies (CMs) constitute a group of heterogenous rare inherited muscle diseases with different incidences. They are traditionally grouped based on characteristic histopathological findings revealed on muscle biopsy. In recent decades, the ever-increasing application of modern genetic technologies has not just improved our understanding of their pathophysiology, but also expanded their phenotypic spectrum and contributed to a more genetically based approach for their classification. Read More

J Clin Med 2020 May 21;9(5). Epub 2020 May 21.

Department of Clinical Research, Faculty of Infectious & Tropical Disease, London School of Hygiene & Tropical Medicine, London WC1E 7HT, UK.

This review aimed at determining the prevalence and incidence of Myalgic Encephalomyelitis/Chronic Fatigue Syndrome (ME/CFS) in Europe. We conducted a primary search in Scopus, PubMed and Web of Science for publications between 1994 and 15 June 2019 (PROSPERO: CRD42017078688). Additionally, we performed a backward-(reference lists) and forward-(citations) search of the works included in this review. Read More

Epilepsia 2020 May 26. Epub 2020 May 26.

Department of Neuroscience, Biomedicine, and Movement Science, University of Verona, Verona, Italy.

Objective: To evaluate the potential impact of concomitant clobazam (CLB) use on the efficacy of cannabidiol (CBD) treatment in patients with Dravet syndrome and Lennox-Gastaut syndrome using meta-analytical techniques.

Methods: We searched for randomized, placebo-controlled, single- or double-blinded trials. The proportion of patients who achieved ≥50% reduction from baseline in seizure frequency during the treatment period was assessed according to CLB status. Read More

Adv Exp Med Biol 2020 ;1239:421-438

The Kinghorn Cancer Centre, Garvan Institute of Medical Research, Darlinghurst, NSW, Australia.

Class XVIII myosins represent a branch of the myosin family tree characterized by the presence of large N- and C-terminal extensions flanking a generic myosin core. These myosins display the highest sequence similarity to conventional class II muscle myosins and are compatible with but not restricted to myosin-2 contractile structures. Instead, they fulfill their functions at diverse localities, such as lamella, actomyosin bundles, the Golgi apparatus, focal adhesions, the cell membrane, and within sarcomeres. Read More

Sci Rep 2020 May 25;10(1):8593. Epub 2020 May 25.

Defence Institute of Physiology and Allied Sciences (DIPAS), Defence R&D Organization (DRDO), Timarpur, Delhi, India.

Muscular atrophy or muscle loss is a multifactorial clinical condition during many critical illnesses like cancer, cardiovascular diseases, diabetes, pulmonary diseases etc. leading to fatigue and weakness and contributes towards a decreased quality of life. The proportion of older adults (>65 y) in the overall population is also growing and aging is another important factor causing muscle loss. Read More

Exp Gerontol 2020 May 22;137:110972. Epub 2020 May 22.

Department of Aging and Geriatric Research, University of Florida, Gainesville, FL, USA.. Electronic address:

Maintaining physical mobility is important for preventing age-related comorbidities in older adults. Endurance and resistance training prevent mobility loss in aging, but exercise alone does not always achieve the expected improvements in physical and cardiopulmonary function. Recent preclinical evidence suggests that a reason for the variability in exercise training responses may be the age-related dysregulation of the nicotinamide adenine dinucleotide (NAD+) metabolome. Read More

J Vis Exp 2020 May 7(159). Epub 2020 May 7.

Department of Molecular Therapy, National Institute of Neuroscience, National Center of Neurology and Psychiatry;

Duchenne muscular dystrophy (DMD), a progressive and fatal muscle disease, is caused by mutations in the DMD gene that result in the absence of dystrophin protein. To date, we have completed an investigator-initiated first-in-human study at the National Center of Neurology and Psychiatry based on the systemic injection of the morpholino oligonucleotides which are prone to exon-53 skipping. For the effective treatment of DMD, in vitro testing with myoblasts derived from DMD patients to screen drugs and assess patient eligibility before undertaking clinical trials is thought to be essential. Read More

J Appl Lab Med 2020 Mar;5(2):320-331

Department of Biochemistry/Biotechnology, University of Turku, Turku, Finland.

Background: The current biomarkers for diagnosis and monitoring of injured and diseased skeletal muscles, such as creatine kinase (CK), have limited tissue specificity and incapability to differentiate between pathological and physiological changes. Thus, new biomarkers with improved diagnostic accuracy are needed. Our aim was to develop and validate a novel assay for skeletal troponin I (skTnI), and to assess its clinical performance in patients with idiopathic inflammatory myopathies (IIM). Read More

J Neuromuscul Dis 2020 May 16. Epub 2020 May 16.

John Walton Muscular Dystrophy Research Centre, Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, UK.

Background: In 2009, we identified TACO1 as a novel mitochondrial disease gene in a single family, however no second family has been described to confirm the role of TACO1 in mitochondrial disease.

Objective: In this report, we describe two independent consanguineous families carrying pathogenic variants in TACO1, confirming the phenotype.

Methods: Detailed clinical investigations and whole exome sequencing with haplotype analysis have been performed in several members of the two reported families. Read More

Orphanet J Rare Dis 2020 May 22;15(1):118. Epub 2020 May 22.

Cure SMA, Elk Grove Village, IL, USA.

Spinal muscular atrophy (SMA) is a rare neuromuscular disease with a rapidly evolving treatment landscape. To better meet the needs of trial sponsors and the patient community in the United States (US) in this evolving context, Cure SMA established a clinical trial readiness program for new and prospective SMA clinical trial sites. Program development was informed by a review of the SMA clinical trial landscape, successful NMD trial and care networks, and factors important to effective trial conduct in SMA. Read More

Clin Exp Rheumatol 2020 Mar-Apr;38 Suppl 124(2):188-194. Epub 2020 May 22.

Rheumatology Unit, Department of Medicine DIMED, University of Padova, Italy.

Objectives: The burden of hypogammaglobulinaemia following rituximab (RTX) treatment in rheumatic diseases has not been fully elucidated yet. Our aim was to evaluate the frequency and predictors of hypogammaglobulinaemia in patients affected by ANCA-associated vasculitis (AAV) and connective tissue diseases (CTD).

Methods: We retrospectively reviewed prospectively collected data of patients receiving RTX. Read More

Nutr Neurosci 2020 May 22:1-21. Epub 2020 May 22.

Department of Health Sciences, University of Milan, Milan, Italy.

The beneficial effects of many substances have been discovered because of regular dietary consumption. This is also the case with curcumin, whose effects have been known for more than 4,000 years in Eastern countries such as China and India. A curcumin-rich diet has been known to counteract many human diseases, including cancer and diabetes, and has been shown to reduce inflammation. Read More

Stomatologiia (Mosk) 2020 ;99(2):97-104

Central Research Institute of Dentistry and Maxillofacial Surgery, Moscow, Russia.

Aim: To develop a method for automated analysis of TMJ elements based on computed tomography and a method for analyzing the features of the ratio of TMJ elements when changing the position of the mandible without repeated CT examination.

Material And Methods: To complete method required a computer tomogram of the temporomandibular joint in habitual occlusion recorded on spiral or cone-beam imaging; and 3D scans of the dentition obtained with intraoral and laboratory scanners; computer software - 3D graphics editor that can handle volumetric CT data and 3D mesh objects.

Results: Analysis of the joint space of the temporomandibular joint in the entire volume, not a single slice represents a more complete and reliable information about the condition of the joint. Read More

Stomatologiia (Mosk) 2020 ;99(2):61-65

Central Research Institute of Dentistry and Maxillofacial Surgery, Moscow, Russia.

The aim of the study was to analyze the effectiveness of elastocorrective therapy in the complex treatment of patients with musculo-articular dysfunction of TMJ. Patients (=237) underwent a comprehensive examination, including: 1) analysis of control and diagnostic plaster models of the jaws; 2) clinical examination; 3) X-ray examination: panoramic X-ray and TRG in lateral projection, computed tomography (CT) of the temporomandibular joint or X-ray zonography of the temporomandibular joint, and magnetic resonance tomography (MRI) of the temporomandibular joint, 4) electromyography of the chewing muscles, 5) T-Scan occlusion computer analysis; 6) stabilometry. After clinical, X-ray examination and data analysis of functional research methods, an algorithm for diagnostic and therapeutic measures was developed. Read More

Neuromuscul Disord 2020 Apr 16. Epub 2020 Apr 16.

Department of Pathology, School of Medicine, University of California San Diego, La Jolla, CA 92093-0709, USA. Electronic address:

The collagen VI-related muscular dystrophies in people include a broad spectrum of diseases ranging from the severe Ullrich congenital muscular dystrophy to the mild Bethlem myopathy. Clinical features are attributable to both muscle and connective tissue and include progressive muscle weakness and respiratory failure, hyperlaxity of distal joints, and progressive contracture of large joints. Here we describe two different COL6A3 pathogenic variants in Labrador Retriever dogs that result in autosomal recessive or autosomal dominant congenital myopathies with hyperlaxity of distal joints and joint contracture, similar to the condition in people. Read More

Neurobiol Dis 2020 May 11;141:104940. Epub 2020 May 11.

Stem Cells and Metabolism Research Program, Faculty of Medicine, University of Helsinki, Helsinki, Finland; Neuroscience Center, Helsinki Institute of Life Science, University of Helsinki, Helsinki, Finland; Department of Medical and Clinical Genetics, University of Helsinki, Helsinki, Finland. Electronic address:

Mitochondrial intermembrane space proteins CHCHD2 and CHCHD10 have roles in motor neuron diseases such as amyotrophic lateral sclerosis, spinal muscular atrophy and axonal neuropathy and in Parkinson's disease. They form a complex of unknown function. Here we address the importance of these two proteins in human motor neurons. Read More

Brain 2020 May 21. Epub 2020 May 21.

Department of Degenerative Neurological Diseases, National Institute of Neuroscience, National Center of Neurology and Psychiatry, Kodaira, Tokyo, Japan.

The polyglutamine (polyQ) diseases are a group of inherited neurodegenerative diseases that include Huntington's disease, various spinocerebellar ataxias, spinal and bulbar muscular atrophy, and dentatorubral pallidoluysian atrophy. They are caused by the abnormal expansion of a CAG repeat coding for the polyQ stretch in the causative gene of each disease. The expanded polyQ stretches trigger abnormal β-sheet conformational transition and oligomerization followed by aggregation of the polyQ proteins in the affected neurons, leading to neuronal toxicity and neurodegeneration. Read More

Acta Neurol Scand 2020 May 20. Epub 2020 May 20.

Department of Diagnostic and Interventional Radiology, University of Magdeburg, Magdeburg, Germany.

Objectives: Magnetic resonance imaging (MRI) is a cornerstone in diagnosis of myopathies. The present study sought to elucidate possible associations between electromyography (EMG) findings and histogram parameters derived from clinical MRI in myositis and other myopathies.

Materials & Methods: 26 patients with myopathies were included in this retrospective study. Read More

Expert Opin Biol Ther 2020 May 20. Epub 2020 May 20.

University of Warwick, Warwick Medical School , Gibbet Hill road, CV47AL Coventry, UK.

Objectives Nusinersen (Spinraza®, Biogen) and onasemnogene abeparvosec (Zolgensma®, Novartis) are novel gene-based therapies for the orphan disease Spinal Muscular Atrophy. Onasemnogene abeparvosec has been allocated an acquisition cost of up to US$5 million per patient. We undertook a rapid inquiry to evaluate if onasemnogene abeparvosec is likely to be cost effective for the UK NHS. Read More

Clin Cardiol 2020 May 20. Epub 2020 May 20.

Division of Rheumatology, University of California Los Angeles, Los Angeles, California, USA.

Background: Statins are the most widely used lipid lowering therapies which reduce cardiovascular risk, but are associated with muscular adverse events (AEs). Idiopathic inflammatory myopathies (IIM) are autoimmune diseases of the muscle with higher risk of cardiovascular disease. More data is needed regarding statin safety in patients with intrinsic muscle disease such as IIM. Read More

Cureus 2020 May 14;12(5):e8125. Epub 2020 May 14.

Nephrology, Chicago Medical School - Rosalind Franklin University of Medicine and Science, North Chicago, USA.

Rhabdomyolysis is a clinical syndrome with a wide range of presentations; it results in muscle necrosis and release of intracellular muscle contents into the circulation. Inflammatory myopathies are a rare cause of rhabdomyolysis. We present a case of a 46-year-old male with a two-week history of progressively worsening diffuse muscle pain after he had been prescribed omeprazole one month prior. Read More

Biol Res 2020 May 19;53(1):22. Epub 2020 May 19.

Department of Neurology, The First Affiliated Hospital, Sun Yat-sen University, Guangzhou, Guangdong, China.

Background: Duchenne muscular dystrophy (DMD) is a devastating genetic muscular disorder with no effective treatment that is caused by the loss of dystrophin. Human induced pluripotent stem cells (hiPSCs) offer a promising unlimited resource for cell-based therapies of muscular dystrophy. However, their clinical applications are hindered by inefficient myogenic differentiation, and moreover, the engraftment of non-transgene hiPSC-derived myogenic progenitors has not been examined in the mdx mouse model of DMD. Read More

BMC Neurol 2020 May 19;20(1):196. Epub 2020 May 19.

Center for Genetic Muscle Disorders, Hugo W. Moser Research Institute at Kennedy Krieger Institute, 716 North Broadway, Room 411, Baltimore, MD, 21205, USA.

Background: Pathogenic variants in the FKRP gene cause impaired glycosylation of α-dystroglycan in muscle, producing a limb-girdle muscular dystrophy with cardiomyopathy. Despite advances in understanding the pathophysiology of FKRP-associated myopathies, clinical research in the limb-girdle muscular dystrophies has been limited by the lack of normative biomarker data to gauge disease progression.

Methods: Participants in a phase 2 clinical trial were evaluated over a 4-month, untreated lead-in period to evaluate repeatability and to obtain normative data for timed function tests, strength tests, pulmonary function, and body composition using DEXA and whole-body MRI. Read More