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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

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

Int J Mol Sci 2019 Mar 27;20(7). Epub 2019 Mar 27.

Dipartimento di scienze Biomediche, Sperimentali e Cliniche "M. Serio", Università degli studi di Firenze, Viale Morgagni 50, 50134 Firenze, Italy.

In skeletal muscle, adiponectin has varied and pleiotropic functions, ranging from metabolic, anti-inflammatory, insulin-sensitizing to regenerative roles. Despite the important functions exerted by adiponectin, the study of the hormone in myopathies is still marginal. Myopathies include inherited and non-inherited/acquired neuromuscular pathologies characterized by muscular degeneration and weakness. Read More

J Mol Med (Berl) 2019 Mar 29. Epub 2019 Mar 29.

Dipartimento di Scienze Biomediche, Sperimentali e Cliniche "Mario Serio", Università degli Studi di Firenze, viale Morgagni 50, 50134, Florence, Italy.

The role of adiponectin has been particularly deepened in diabetic muscles while the study of adiponectin in hereditary myopathies has been marginally investigated. Here, we report the study about adiponectin effects in Col6a1 (collagen VI-null) mice. Col6a1 mice show myophatic phenotype closer to that of patients with Bethlem myopathy, thus representing an excellent animal model for the study of this hereditary disease. Read More

Nat Commun 2019 03 27;10(1):1396. Epub 2019 Mar 27.

Centre for Medical Research, University of Western Australia, Harry Perkins Institute of Medical Research, Perth, 6000, WA, Australia.

Myoglobin, encoded by MB, is a small cytoplasmic globular hemoprotein highly expressed in cardiac myocytes and oxidative skeletal myofibers. Myoglobin binds O facilitates its intracellular transport and serves as a controller of nitric oxide and reactive oxygen species. Here, we identify a recurrent c. Read More

Cells 2019 Mar 23;8(3). Epub 2019 Mar 23.

Mitochon Pharmaceuticals, Inc., 970 Cross Lane, Blue Bell, PA 19422, USA.

In the sanctity of pure drug discovery, objective reasoning can become clouded when pursuing ideas that appear unorthodox, but are spot on physiologically. To put this into historical perspective, it was an unorthodox idea in the 1950's to suggest that warfarin, a rat poison, could be repositioned into a breakthrough drug in humans to protect against strokes as a blood thinner. Yet it was approved in 1954 as Coumadin and has been prescribed to billions of patients as a standard of care. Read More

Semin Dial 2019 Mar 24. Epub 2019 Mar 24.

John Walls Renal Unit, University Hospitals Leicester NHS Trust, Leicester, UK.

Patients on hemodialysis are physically inactive. Less than 50% of hemodialysis patients undertake exercise once a week and such patients have increased mortality compared to patients who undertake regular exercise. The reasons for physical inactivity and reduced functional capacity are complex and inter-related, with skeletal muscle catabolism, chronic inflammation, anemia, malnutrition, uremia, the burden of co-morbid diseases, and "enforced" sedentary time during hemodialysis all contributing. Read More

Chin Med J (Engl) 2019 Apr;132(7):805-810

Institute of Neuromuscular and Neurodegenerative Diseases.

Background: Abnormally activated mechanistic target of rapamycin (mTOR) pathway has been reported in several model animals with inherited metabolic myopathies (IMMs). However, the profiles of mTOR pathway in skeletal muscles from patients are still unknown. This study aimed to analyze the activity of mTOR pathway in IMMs muscles. Read More

J Cachexia Sarcopenia Muscle 2019 Mar 20. Epub 2019 Mar 20.

Venetian Institute of Molecular Medicine, Via Orus 2, 35129, Padova, Italy.

Background: Skeletal muscle is a plastic tissue that adapts to changes in exercise, nutrition, and stress by secreting myokines and myometabolites. These muscle-secreted factors have autocrine, paracrine, and endocrine effects, contributing to whole body homeostasis. Muscle dysfunction in aging sarcopenia, cancer cachexia, and diabetes is tightly correlated with the disruption of the physiological homeostasis at the whole body level. Read More

Epilepsia Open 2019 Mar 17;4(1):102-109. Epub 2019 Jan 17.

Molecular and Cellular Therapeutics Royal College of Surgeons in Ireland Dublin Ireland.

Objective: To ascertain the clinical and genetic factors contributing to carbamazepine- and oxcarbazepine-induced hyponatremia (COIH), and to carbamazepine (CBZ) metabolism, in a retrospectively collected, cross-sectional cohort of people with epilepsy.

Methods: We collected data on serum sodium levels and antiepileptic drug levels in people with epilepsy attending a tertiary epilepsy center while on treatment with CBZ or OXC. We defined hyponatremia as Na+ ≤134 mEq/L. Read More

J Med Food 2019 Apr 13;22(4):416-420. Epub 2019 Mar 13.

1 Department of Biochemistry and Pharmacology, School of Medicine, University of Marília (UNIMAR), Marília, Brazil.

Many studies have shown that plants can be therapeutic alternatives in the prevention or treatment of various diseases. Among these, green coffee may present different pharmacological effects related to the regulation of glycemia and lipid metabolism and is related to the prevention of cardiovascular diseases. The objective of our study was to evaluate the effects of using green and ripe coffee on the metabolic profile and muscular enzymes after the practice of physical exercises in Wistar rats. Read More

World J Clin Cases 2019 Feb;7(4):494-499

The Center for Pediatric Liver Diseases, Children's Hospital of Fudan University, Shanghai 201102, China.

Background: Pediatric recurrent acute liver failure (RALF) with recovery between episodes is rare. Causes include autoimmune disease, which may flare and subside; intermittent exposure to toxins, as with ingestions; and metabolic disorders, among them the fever-associated crises ascribed to biallelic mutations in , with RALF beginning in infancy. disease manifest with RALF, as known to date, includes central and peripheral neurologic and muscular morbidity (hepatocerebellar neuropathy syndrome). Read More

Biochem Biophys Res Commun 2019 Apr 27;511(3):658-664. Epub 2019 Feb 27.

INSERM UMR 1141, Hôpital Robert Debré, 48 Boulevard Sérurier, 75019, Paris, France; Université Paris Diderot, Paris, France. Electronic address:

Mitochondria play a vital role in proliferation and differentiation and their remodeling in the course of differentiation is related to the variable energy and metabolic needs of the cell. In this work, we show a distinctive mitochondrial remodeling in human induced pluripotent stem cells differentiated into neural or mesenchymal progenitors. While leading to upregulation of the citrate synthase-α-ketoglutarate dehydrogenase segment of the Krebs cycle and increased respiratory chain activities and respiration in the mesenchymal stem cells, the remodeling in the neural stem cells resulted in downregulation of α-ketoglutarate dehydrogenase, upregulation of isocitrate dehydrogenase 2 and the accumulation of α-ketoglutarate. Read More

Hum Mutat 2019 Feb 28. Epub 2019 Feb 28.

Metabolic Unit, Great Ormond Street Hospital NHS Trust, Institute for Child Health UCL, London, UK.

Pathogenic de novo variants in the X-linked gene SLC35A2 encoding the major Golgi-localized UDP-galactose transporter required for proper protein and lipid glycosylation cause a rare type of congenital disorder of glycosylation known as SLC35A2-congenital disorders of glycosylation (CDG; formerly CDG-IIm). To date, 29 unique de novo variants from 32 unrelated individuals have been described in the literature. The majority of affected individuals are primarily characterized by varying degrees of neurological impairments with or without skeletal abnormalities. Read More

Sci Rep 2019 Feb 26;9(1):2770. Epub 2019 Feb 26.

School of Biological Sciences, University of Reading, Reading, UK.

The dystrophin-glycoprotein complex (DGC) links the muscle cytoskeleton to the extracellular matrix and is responsible for force transduction and protects the muscle fibres from contraction induced damage. Mutations in components of the DGC are responsible for muscular dystrophies and congenital myopathies. Expression of DGC components have been shown to be altered in many myopathies. Read More

Int J Mol Sci 2019 Feb 15;20(4). Epub 2019 Feb 15.

CNR National Research Council of Italy, Institute of Molecular Genetics, Unit of Bologna, 40136 Bologna, Italy.

The mechanistic target of rapamycin (mTOR) is a ubiquitous serine/threonine kinase that regulates anabolic and catabolic processes, in response to environmental inputs. The existence of mTOR in numerous cell compartments explains its specific ability to sense stress, execute growth signals, and regulate autophagy. mTOR signaling deregulation is closely related to aging and age-related disorders, among which progeroid laminopathies represent genetically characterized clinical entities with well-defined phenotypes. Read More

Nat Commun 2019 02 15;10(1):797. Epub 2019 Feb 15.

Instituto de Investigaciones Biomédicas "Alberto Sols", CSIC-UAM, 28029, Madrid, Spain.

FXR1 is an alternatively spliced gene that encodes RNA binding proteins (FXR1P) involved in muscle development. In contrast to other tissues, cardiac and skeletal muscle express two FXR1P isoforms that incorporate an additional exon-15. We report that recessive mutations in this particular exon of FXR1 cause congenital multi-minicore myopathy in humans and mice. Read More

Genetics 2019 04 30;211(4):1297-1313. Epub 2019 Jan 30.

Institut de Biochimie et Génétique Cellulaires, Université de Bordeaux and CNRS UMR5095, 33077 Bordeaux cedex, France

Purine homeostasis is ensured through a metabolic network widely conserved from prokaryotes to humans. Purines can either be synthesized , reused, or produced by interconversion of extant metabolites using the so-called recycling pathway. Although thoroughly characterized in microorganisms, such as yeast or bacteria, little is known about regulation of the purine biosynthesis network in metazoans. Read More

Mol Cell Probes 2019 04 22;44:14-20. Epub 2019 Jan 22.

Medical Genetics Center, Munich, Germany; Department of Neurology, Friedrich-Baur-Institute, Klinikum der Ludwig-Maximilians-University, Munich, Germany. Electronic address:

The heterooctameric mitochondrial trifunctional protein (MTP), composed of four α- and β-subunits harbours three enzymes that each perform a different function in mitochondrial fatty acid β-oxidation. Pathogenic variants in the MTP genes (HADHA and HADHB) cause MTP deficiency, a rare autosomal recessive metabolic disorder characterized by phenotypic heterogeneity ranging from severe, early-onset, cardiac disease to milder, later-onset, myopathy and neuropathy. Since metabolic myopathies and neuropathies are a group of rare genetic disorders and their associated muscle symptoms may be subtle, the diagnosis is often delayed. Read More

Am J Med Genet A 2019 Mar 16;179(3):386-396. Epub 2019 Jan 16.

The Prenatal Diagnosis and Medical Genetics Program, Department of Obstetrics and Gynecology, Mount Sinai Hospital, University of Toronto, Toronto, Ontario, Canada.

The ryanodine receptor 1 (RYR1) is a calcium release channel essential for excitation-contraction coupling in the sarcoplasmic reticulum of skeletal muscles. Dominant variants in the RYR1 have been well associated with the known pharmacogenetic ryanodinopathy and malignant hyperthermia. With the era of next-generation gene sequencing and growing number of causative variants, the spectrum of ryanodinopathies has been evolving with dominant and recessive variants presenting with RYR1-related congenital myopathies such as central core disease, minicore myopathy with external ophthalmoplegia, core-rod myopathy, and congenital neuromuscular disease. Read More

Eur J Pediatr 2019 Mar 7;178(3):387-394. Epub 2019 Jan 7.

Centro de Referência de Doenças Hereditárias do Metabolismo, Departamento de Pediatria Médica, Hospital de Santa Maria - CHULN, Av. Prof. Egas Moniz, 1649-035, Lisbon, Portugal.

Fatty acid β-oxidation (FAO) disorders have a wide variety of symptoms, not usually evident between episodes of acute decompensations. Cardiac involvement is frequent, and severe ventricular arrhythmias are suspected of causing sudden death. Expanded newborn screening (ENS) for these disorders, hopefully, contribute to prevent potentially acute life-threatening events. Read More

Indian Heart J 2018 Dec 10;70 Suppl 3:S120-S125. Epub 2018 Aug 10.

Department of Clinical Pharmacology & Therapeutics, Nizam's Institute of Medical Sciences, Punjagutta, Hyderabad, India.

Objectives: Statins are the most commonly prescribed medications for the treatment of atherosclerotic cardiovascular disease. Statin-associated adverse effects occur in ∼10% of patients and are associated with polymorphisms in several key genes coding for transporters and metabolizing enzymes that affect statin pharmacokinetics. In the present study, we examine the association between cytochrome P450 3A5*3 (CYP3A5*3) T>C (rs776746), COQ G>C (rs4693075), and SLCO1B1 T>C (rs4149056) genetic variants with the risk of myopathy in South Indian patients on statin therapy. Read More

Ann Dermatol Venereol 2018 Dec;145 Suppl 7:VIIS24-VIIS31

Service de dermatologie, hôpital Saint-André, CHU de Bordeaux, 1, rue Jean-Burget, 33000 Bordeaux, France. Electronic address:

What's new in internal medicine will be dedicated to three topics: i) inflammatory myopathies constituting a heterogenous group of diseases whose clinical manifestations, immunological abnormalities, treatment response and outcomes vary widely; ii) alterations of gut microbiota contributing to the occurrence or development of a range of conditions, including autoimmune diseases for which further work is necessary to understand the correlation of dysbiosis with these diseases; iii) the reciprocal relationship between obesity, metabolic syndrome, atherosclerosis and autoimmune diseases. New data concerning systemic sclerosis, cutaneous vasculitis, adult Still's disease, autoantibodies anti DFS70, Epstein Barr virus and autoimmune diseases were also highlighted. Read More

J Pediatr 2019 01;204:305-313.e14

Department of Human Genetics, University of California, Los Angeles, CA. Electronic address:

Mol Nutr Food Res 2019 03 3;63(6):e1800649. Epub 2019 Jan 3.

Chongqing Key Laboratory of Traditional Chinese Medicine for Prevention and Cure of Metabolic Diseases, College of Traditional Chinese Medicine, Chongqing Medical University, Chongqing, China.

Scope: This study investigates the dual actions of 6-gingerol in stimulating both plasma adiponectin and muscular adiponectin receptor signaling in naturally ageing rats.

Methods And Results: Twenty-two-month-old male SD rats were treated with 6-gingerol (0.2 mg kg , once daily) for 7 weeks. Read More

EJIFCC 2018 Dec 5;29(4):285-289. Epub 2018 Dec 5.

Institute of Medical Biochemistry and Laboratory Diagnostics, First Faculty of Medicine, Charles University and General University Hospital, Prague, Czech Republic.

Chronic alcohol consumption is a world-wide socioeconomic problem. Three metabolic pathways of ethanol were describe in human - alcohol dehydrogenase (ADH), microsomal ethanol oxidizing system (MEOS, CYP2E1) and catalase. Ethanol directly bounds to different molecules (e. Read More

Front Neurol 2018 4;9:981. Epub 2018 Dec 4.

Molecular Medicine, Pisa, Italy.

Hereditary spastic paraplegia (HSP) refers to a group of genetically heterogeneous neurodegenerative motor neuron disorders characterized by progressive age-dependent loss of corticospinal motor tract function, lower limb spasticity, and weakness. Recent clinical use of next generation sequencing (NGS) methodologies suggests that they facilitate the diagnostic approach to HSP, but the power of NGS as a first-tier diagnostic procedure is unclear. The larger-than-expected genetic heterogeneity-there are over 80 potential disease-associated genes-and frequent overlap with other clinical conditions affecting the motor system make a molecular diagnosis in HSP cumbersome and time consuming. Read More

Nat Commun 2018 12 17;9(1):5342. Epub 2018 Dec 17.

University Medical Center Groningen, University of Groningen, Department of Biomedical Sciences of Cell & Systems, Groningen, AV, 9791, The Netherlands.

BAG3 is a multi-domain hub that connects two classes of chaperones, small heat shock proteins (sHSPs) via two isoleucine-proline-valine (IPV) motifs and Hsp70 via a BAG domain. Mutations in either the IPV or BAG domain of BAG3 cause a dominant form of myopathy, characterized by protein aggregation in both skeletal and cardiac muscle tissues. Surprisingly, for both disease mutants, impaired chaperone binding is not sufficient to explain disease phenotypes. Read More

Front Physiol 2018 26;9:1639. Epub 2018 Nov 26.

Eurecat, Centre Tecnològic de Catalunya, Technological Unit of Nutrition and Health, Reus, Spain.

We previously demonstrated that chronic exposure to different photoperiods induced marked variations in several glucose and lipid metabolism-related parameters in normoweight Fischer 344 (F344) rats. Here, we examined the effects of the combination of an obesogenic cafeteria diet (CAF) and the chronic exposure to three different day lengths (L12, 12 h light/day; L18, 18 h light/day; and L6, 6 h light/day) in this rat strain. Although no changes were observed during the first 4 weeks of adaptation to the different photoperiods in which animals were fed a standard diet, the addition of the CAF for the subsequent 7 weeks triggered profound physiologic and metabolic alterations in a photoperiod-dependent manner. Read More

Rheumatol Int 2019 Feb 5;39(2):311-316. Epub 2018 Dec 5.

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

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

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

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

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

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

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

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

J Cachexia Sarcopenia Muscle 2019 Feb 21;10(1):35-53. Epub 2018 Nov 21.

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

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

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

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

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

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

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

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

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

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

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

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

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

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

Skelet Muscle 2018 11 13;8(1):35. Epub 2018 Nov 13.

Muscle Metabolism Discovery Performance Unit, GlaxoSmithKline, King of Prussia, PA, USA.

Background: In muscular dystrophy and old age, skeletal muscle repair is compromised leading to fibrosis and fatty tissue accumulation. Therefore, therapies that protect skeletal muscle or enhance repair would be valuable medical treatments. Hypoxia-inducible factors (HIFs) regulate gene transcription under conditions of low oxygen, and HIF target genes EPO and VEGF have been associated with muscle protection and repair. Read More

Nutrients 2018 Nov 12;10(11). Epub 2018 Nov 12.

Departamento de Enfermería, Facultad de Ciencias de la Salud, Avda. De la Ilustración, 60, Universidad de Granada, 18016 Granada, Spain.

This study investigated the associations of muscular fitness and various indicators of body fatness with cardio-metabolic risk factors and determined the muscular strength and body fatness thresholds for detecting a high risk of cardio-metabolic dysfunction in young adults. A cross-sectional study was conducted on 1798 collegiate students (61.5% females, mean age 20. Read More

Int J Mol Sci 2018 Nov 12;19(11). Epub 2018 Nov 12.

Myology Laboratory, Institute of Biomedical Problems RAS, Moscow 123007, Russia.

Molecular mechanisms that trigger disuse-induced postural muscle atrophy as well as myosin phenotype transformations are poorly studied. This review will summarize the impact of 5' adenosine monophosphate -activated protein kinase (AMPK) activity on mammalian target of rapamycin complex 1 (mTORC1)-signaling, nuclear-cytoplasmic traffic of class IIa histone deacetylases (HDAC), and myosin heavy chain gene expression in mammalian postural muscles (mainly, soleus muscle) under disuse conditions, i.e. Read More

Mod Pathol 2019 Apr 6;32(4):462-483. Epub 2018 Nov 6.

Department of Pathology, University of Chicago, Chicago, IL, USA.

The interpretation of muscle biopsies is complex and provides the most useful information when integrated with the clinical presentation of the patient. These biopsies are performed for workup of a wide range of diseases including dystrophies, metabolic diseases, and inflammatory processes. Recent insights have led to changes in the classification of inflammatory myopathies and have changed the role that muscle biopsies have in the workup of inherited diseases. Read More

Neurotherapeutics 2018 10;15(4):915-927

Division of Neuromuscular & Neurometabolic Disorders, Departments of Pediatrics and Medicine, McMaster University, Hamilton Health Sciences Centre, Rm 2H26, Hamilton, ON, L8S 4L8, Canada.

Most of the glycogen metabolism disorders that affect skeletal muscle involve enzymes in glycogenolysis (myophosphorylase (PYGM), glycogen debranching enzyme (AGL), phosphorylase b kinase (PHKB)) and glycolysis (phosphofructokinase (PFK), phosphoglycerate mutase (PGAM2), aldolase A (ALDOA), β-enolase (ENO3)); however, 3 involve glycogen synthesis (glycogenin-1 (GYG1), glycogen synthase (GSE), and branching enzyme (GBE1)). Many present with exercise-induced cramps and rhabdomyolysis with higher-intensity exercise (i.e. Read More

Adv Exp Med Biol 2018;1088:369-391

Graduate Program in Health Sciences, Universidade Federal de Ciências da Saúde de Porto Alegre (UFCSPA), Porto Alegre, Rio Grande do Sul, Brazil.

Currently, the number of chronic diseases has increased due to increasing in life expectancy of population. Among them, cardiovascular diseases (CVD) are the most prevalent and responsible for the high mortality and morbidity rates. Patients with CVD have metabolic, hemodynamic, and musculoskeletal changes. Read More

Mol Genet Genomic Med 2018 11 31;6(6):1134-1139. Epub 2018 Oct 31.

Montreal Neurological Institute, McGill University, Montreal, Quebec, Canada.

Background: Hereditary spastic paraplegia (HSP) is a group of rare disorders characterized by spastic paraparesis and other symptoms. Often, other diseases can mimic HSP, which may delay diagnosis and treatment.

Methods: Whole exome sequencing was performed in families with clinically suspected HSP without a genetic diagnosis. Read More

Skeletal Radiol 2019 May 30;48(5):653-676. Epub 2018 Oct 30.

Department of Internal Medicine, Hospital Clinic, Universitat de Barcelona (UB) and CIBERER, Villarroel 170, 08036, Barcelona, Spain.

Magnetic resonance imaging (MRI) is considered the most sensitive and specific imaging technique for the detection of muscle diseases related to myopathies. Since 2008, the use of whole-body MRI (WBMRI) to evaluate myopathies has improved due to technical advances such as rolling table platform and parallel imaging, which enable rapid assessment of the entire musculoskeletal system with high-quality images. WBMRI protocols should include T1-weighted and short-tau inversion recovery (STIR), which provide the basic pulse sequences for studying myopathies, in order to detect fatty infiltration/muscle atrophy and muscle edema, respectively. Read More

Poult Sci 2018 Oct 27. Epub 2018 Oct 27.

Beijing Advanced Innovation Center for Food Nutrition and Human Health, China Agricultural University, Beijing 100083, China.

Selenium (Se) is an essential nutrient for humans and all food-producing animal species. Nutritional deficiencies of Se and (or) vitamin E induce exudative diathesis, nutritional pancreatic atrophy, and nutritional muscular dystrophy in chicks. Although these diseases are presumably associated with the need of Se for the synthesis of the 21st amino acid, selenocysteine (Sec, U) in selenoproteins, metabolic functions of the 25 selenoproteins identified in avian species remain largely unknown. Read More

Case Rep Neurol Med 2018 30;2018:9658251. Epub 2018 Sep 30.

MRC Centre for Neuromuscular Diseases, Institute of Neurology, Queen Square, London, UK.

McArdle disease is a metabolic myopathy mainly characterised by symptom onset during physical activities or isometric muscle contraction. Resistance (also termed strength) training is a type of physical exercise focusing on the use of resistance (e.g. Read More

Am J Case Rep 2018 Oct 26;19:1272-1278. Epub 2018 Oct 26.

Department of Internal Medicine, Haeundae Paik Hospital, Inje University College of Medicine, Busan, South Korea.

BACKGROUND Rhabdomyolysis is a syndrome characterized by muscle necrosis and secretion of intracellular muscle components into the blood circulation. Acute compartment syndrome is a potential complication of severe rhabdomyolysis. CASE REPORT We report 3 cases of compartment syndrome-related peripheral neuropathy in alcoholic individuals with rhabdomyolysis. Read More

Nutr Clin Pract 2018 Dec 25;33(6):772-789. Epub 2018 Oct 25.

Department of Kinesiology, University of Waterloo, Ontario, Canada.

Muscle wasting occurs rapidly within days of an admission to the intensive care unit (ICU). Concomitant muscle weakness and impaired physical functioning can ensue, with lasting effects well after hospital discharge. Early physical rehabilitation is a promising intervention to minimize muscle weakness and physical dysfunction. Read More

Neuromuscul Disord 2018 Nov 11;28(11):914-926. Epub 2018 Sep 11.

Department of Neurology, Neurovascular Research Unit, Herlev Gentofte Hospital, University of Copenhagen, Denmark; PDE Research Group, Lundbeck Foundation Center for Neurovascular Research (LUCENS), Denmark. Electronic address:

Neuronal nitric oxide synthase (nNOS) is involved in nitric oxide (NO) production and suggested to play a crucial role in blood flow regulation of skeletal muscle. During activation of the muscle, NO helps attenuate the sympathetic vasoconstriction to accommodate increased metabolic demands, a phenomenon known as functional sympatholysis. In inherited myopathies such as the dystrophinopathies Duchenne and Becker muscle dystrophies (DMD and BMD), nNOS is lost from the sarcolemma. Read More