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Dtsch Med Wochenschr 2020 Jul 2;145(13):887-894. Epub 2020 Jul 2.

Muscle pain as a common symptom in daily practice frequently occurs as a non-specific accompanying symptom in multiple internal and neurological diseases. Primarily inflammatory or autoimmune muscular diseases are causing muscle pain. However, a number of non-inflammatory causes of pain can also be considered for differential diagnosis. Read More

Acta Myol 2020 Mar 1;39(1):24-28. Epub 2020 Mar 1.

Neuromuscular Disease Unit, Neurology Department, Coimbra University and Hospital Centre, Coimbra, Portugal.

Myopathies caused by gene mutations are clinically and pathologically heterogeneous and, until recently, difficult to diagnose. The availability of NGS panels for hereditary neuromuscular diseases changed our insight regarding their frequency and allowed a better perception of the different phenotypes and morphological abnormalities associated. We present a male Portuguese patient with the classical phenotype of Laing early-onset distal myopathy (MPD1) beginning at 6 years of age, very slowly progressive, and with a mild to moderate impact on daily life by the age of 56. Read More

Cells 2020 Jun 23;9(6). Epub 2020 Jun 23.

Neurology IV-Neuroimmunology and Neuromuscular Diseases Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, 20133 Milan, Italy.

Laminopathies are a wide and heterogeneous group of rare human diseases caused by mutations of the LMNA gene or related nuclear envelope genes. The variety of clinical phenotypes and the wide spectrum of histopathological changes among patients carrying an identical mutation in the LMNA gene make the prognostic process rather difficult, and classical genetic screens appear to have limited predictive value for disease development. The aim of this study was to evaluate whether a comprehensive profile of circulating cytokines may be a useful tool to differentiate and stratify disease subgroups, support clinical follow-ups and contribute to new therapeutic approaches. Read More

Eur J Hum Genet 2020 Jun 22. Epub 2020 Jun 22.

Signature Research Program in Cardiovascular and Metabolic Disorders, Duke-NUS Medical School, Singapore, 169857, Singapore.

Major Facilitator Superfamily Domain containing 2a (MFSD2A) is an essential endothelial lipid transporter at the blood-brain barrier. Biallelic variants affecting function in MFSD2A cause autosomal recessive primary microcephaly 15 (MCPH15, OMIM# 616486). We sought to expand our knowledge of the phenotypic spectrum of MCPH15 and demonstrate the underlying mechanism of inactivation of the MFSD2A transporter. Read More

Lancet Diabetes Endocrinol 2020 Jul;8(7):594-605

Academic Center For Thyroid Disease, Department of Internal Medicine, Erasmus Medical Center, Rotterdam, Netherlands. Electronic address:

Background: Disordered thyroid hormone transport, due to mutations in the SLC16A2 gene encoding monocarboxylate transporter 8 (MCT8), is characterised by intellectual and motor disability resulting from cerebral hypothyroidism and chronic peripheral thyrotoxicosis. We sought to systematically assess the phenotypic characteristics and natural history of patients with MCT8 deficiency.

Methods: We did an international, multicentre, cohort study, analysing retrospective data from Jan 1, 2003, to Dec 31, 2019, from patients with MCT8 deficiency followed up in 47 hospitals in 22 countries globally. Read More

Eur J Neurol 2020 Jun 17. Epub 2020 Jun 17.

Neurology Department, Shariati Hospital, Tehran University of Medical Sciences, Tehran, Iran.

Background: Very long-chain acyl-CoA dehydrogenase deficiency (VLCADD) is a hereditary disorder of mitochondrial long-chain fatty acid oxidation that manifests with variable presentations, including exercise intolerance, cardiomyopathy, and liver disease. Herein, we describe the clinical and genetic manifestations of six patients with adult-onset VLCADD.

Methods: In this study, clinical, pathological, and genetic findings of six adult patients (four Iranian and two Serbian) with VLCADD and their response to treatment are described. Read More

Pediatr Int 2020 Jun 17. Epub 2020 Jun 17.

Department of Pediatric Surgery, Istanbul Medeniyet University, Faculty of Medicine, Goztepe Training and Research Hospital, Istanbul, Turkey.

Background: The data about PEG insertions in small infants is limited with inclusion of older children in most studies. We aimed to evaluate the safety of PEG placement in infants weighing ≤5 kg together with their follow-up results.

Methods: A retrospective evaluation of the records between January 2005 and December 2019 was done. Read More

Eur J Paediatr Neurol 2020 May 22. Epub 2020 May 22.

Department of Biomedical, Metabolic and Neural Sciences, University of Modena and Reggio Emilia, Modena, Italy; Department of of Molecular, Cell and Cancer Biology, University of Massachsetts Medical School, Worcester, USA. Electronic address:

Among 1339 unrelated cases accrued by the Italian National Registry for facioscapulohumeral muscular dystrophy (FSHD), we found three unrelated cases who presented signs of Williams-Beuren Syndrome (WBS) in early childhood and later developed FSHD. All three cases carry the molecular defects associated with the two disorders. The rarity of WBS and FSHD, 1 in 7500 and 1 in 20,000 respectively, makes a random association of the two diseases unlikely. Read More

Front Physiol 2020 28;11:548. Epub 2020 May 28.

Istituto Auxologico Italiano, Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS), Experimental Laboratory for Auxo-endocrinological Research, Verbania, Italy.

The aim of the present study was to investigate the effects of a 3-week in-hospital body weight reduction program (BWRP), entailing moderate energy restriction, physical activity, psychological counseling and nutritional education, on body composition and lower limb muscle power (LLP) output in obese children and adolescents. Three thousand seven hundred seventy-eight obese [BMI: 36.2 ± 5. Read More

J Clin Invest 2020 Jun 16. Epub 2020 Jun 16.

Model Animal Research Center of Nanjing University, Nanjing University, Nanjing, China.

Skeletal muscle depends on the precise orchestration of contractile and metabolic gene expression programs to direct fiber type specification and to ensure muscle performance. Exactly how such fiber type-specific patterns of gene expression are established and maintained remains unclear, however. Here, we demonstrate that histone mono-methyltransferase MLL4 (KMT2D), an enhancer regulator enriched in slow myofibers, plays a critical role in controlling muscle fiber identity as well as muscle performance. Read More

Medicine (Baltimore) 2020 Jun;99(24):e20310

Department of neurological rehabilitation, The Third People's Hospital of Qingdao.

Rationale: Mitochondrial encephalomyopathy with lactic acidosis and stroke- like episodes (MELAS) syndrome is caused by mitochondrial respiratory chain dysfunction and oxidative phosphorylation disorder. It is a rare clinical metabolic disease involved with multiple systems.

Patient Concerns: A 22-year-old patient presented with limb convulsion accompanied by loss of consciousness, headache, partial blindness, blurred vision, and so on. Read More

Gen Comp Endocrinol 2020 Jun 12;295:113526. Epub 2020 Jun 12.

Department of Poultry Science, University of Arkansas, Fayetteville, AR 72701, United States.

Myopathies (Woody Breast (WB) and White Striping (WS)) of broiler chickens have been correlated with fast growth. Recent studies reported that localized hypoxia and metabolic impairment may involve in these myopathies of birds. In order to better understand the stress response mechanisms affecting myopathies of broilers, the aim of this study was to examine effects of WB and both WB/WS on stress hormone corticosterone (CORT) levels and expressional changes of stress response genes including glucocorticoid (GC) receptor (GR), 11β-Hydroxysteroid dehydrogenase type 1 (11β-HSD1), DNA methylation regulators (DNMTs), and arginine vasotocin receptor 1a and 1b (V1aR, V1bR). Read More

Front Cell Dev Biol 2020 26;8:322. Epub 2020 May 26.

Department of Animal Genetics, Breeding and Reproduction, College of Animal Science and Technology, Nanjing Agricultural University, Nanjing, China.

The different skeletal muscle fiber types exhibit distinctively different physiological and metabolic properties, and have been linked to both human metabolic diseases and meat quality traits in livestock. Circular RNAs (circRNAs) are a new class of endogenous RNA regulating gene expression, but regulatory mechanisms of skeletal muscle fibers involved in circRNAs remain poorly understood. Here, we constructed circRNA expression profiles of three fast-twitch biceps femoris (Bf) and three slow-twitch soleus (Sol) muscles in pigs using RNA-seq and identified 16,342 distinct circRNA candidates. Read More

Neurol Sci 2020 Jun 10. Epub 2020 Jun 10.

Epilepsy Surgery Center, IRCCS NEUROMED, Via Atinense 18, 86170, Pozzilli (IS), Italy.

Background: Vagal nerve stimulation (VNS) is an effective palliative therapy in drug-resistant epileptic patients and is also approved as a therapy for treatment-resistant depression. Depression is a frequent comorbidity in epilepsy and it affects the quality of life of patients more than the seizure frequency itself. The aim of this systematic review is to analyze the available literature about the VNS effect on depressive symptoms in epileptic patients. Read More

Semin Arthritis Rheum 2020 May 25;50(4):627-635. Epub 2020 May 25.

Department of Rheumatology, Xiangya Hospital, Central South University, 87 Xiangya Road, Changsha, Hunan 410008, People's Republic of China. Electronic address:

Idiopathic inflammatory myopathies (IIMs) are a group of heterogeneous autoimmune diseases characterized by muscle weakness, muscle inflammation and extramuscular manifestations. Despite extensive efforts, the mechanisms of IIMs remain largely unknown, and treatment is still a challenge for physicians. Metabolism changes have emerged as a crucial player in autoimmune diseases, such as systemic lupus erythematosus (SLE) and rheumatoid arthritis (RA). Read More

Medicine (Baltimore) 2020 Jun;99(23):e20577

Although both metabolic syndrome (MetS) and irritable bowel syndrome (IBS) have been linked with altered gut microbiota, only a few studies investigated the association between them. Hence, we aimed to evaluate the prevalence of MetS along with depression and fibromyalgia syndrome (FMS) in IBS patients.This was a case-control study in which 3808 consecutive patients who attended outpatient clinics of Erzurum Regional Training and Research Hospital between May 2019 and August 2019 were evaluated in terms of IBS with Rome-IV criteria. Read More

Eur J Transl Myol 2020 Apr 1;30(1):8826. Epub 2020 Apr 1.

Interdepartmental Research Centre of Myology (CIR-Myo), Department of Biomedical Sciences, University of Padova, Italy.

More than half a century of skeletal muscle research is continuing at Padua University (Italy) under the auspices of the Interdepartmental Research Centre of Myology (CIR-Myo), the European Journal of Translational Myology (EJTM) and recently also with the support of the A&CM-C Foundation for Translational Myology, Padova, Italy. The Volume 30(1), 2020 of the EJTM opens with the collection of abstracts for the conference "2020 Padua Muscle Days: Mobility Medicine 30 years of Translational Research". This is an international conference that will be held between March 18-21, 2020 in Euganei Hills and Padova in Italy. Read More

Diabetes Metab Syndr Obes 2020 12;13:1611-1617. Epub 2020 May 12.

Department of Geriatrics, Xuanwu Hospital, Capital Medical University, China National Clinical Research Center for Geriatric Medicine, Beijing 100053, People's Republic of China.

Objective: Normal-weight obesity (NWO) is characterized by high body fat percentage (BFP) in individuals with normal body mass index (BMI). This condition may increase the risk of serious health problems, such as cardiovascular diseases, diabetes, insulin resistance, hypertension, and metabolic syndrome. However, the prevalence of NWO in older adults in Beijing remains unclear. 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

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

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

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

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

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

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

Hum Mutat 2020 May 25. Epub 2020 May 25.

National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland.

Farber disease and spinal muscular atrophy with progressive myoclonic epilepsy are a spectrum of rare lysosomal storage disorders characterized by acid ceramidase deficiency (ACD), resulting from pathogenic variants in N-acylsphingosine amidohydrolase 1 (ASAH1). Other than simple listings provided in literature reviews, a curated, comprehensive list of ASAH1 mutations associated with ACD clinical phenotypes has not yet been published. This publication includes mutations in ASAH1 collected through the Observational and Cross-Sectional Cohort Study of the Natural History and Phenotypic Spectrum of Farber Disease (NHS), ClinicalTrials. Read More

J Neurovirol 2020 04 23;26(2):143-148. Epub 2020 May 23.

Department of Neurology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.

A pandemic due to novel coronavirus arose in mid-December 2019 in Wuhan, China, and in 3 months' time swept the world. The disease has been referred to as COVID-19, and the causative agent has been labelled SARS-CoV-2 due to its genetic similarities to the virus (SARS-CoV-1) responsible for the severe acute respiratory syndrome (SARS) epidemic nearly 20 years earlier. The spike proteins of both viruses dictate tissue tropism using the angiotensin-converting enzyme type 2 (ACE-2) receptor to bind to cells. Read More

Front Physiol 2020 30;11:350. Epub 2020 Apr 30.

Institute of Biomedical Technologies, National Research Council, Segrate, Italy.

PLoS Comput Biol 2020 May 18;16(5):e1007871. Epub 2020 May 18.

Boler-Parseghian Center for Rare and Neglected Disease, University of Notre Dame, Notre Dame, Indiana, United States of America.

Monogenetic diseases provide unique opportunity for studying complex, clinical states that underlie neurological severity. Loss of glycine decarboxylase (GLDC) can severely impact neurological development as seen in non-ketotic hyperglycinemia (NKH). NKH is a neuro-metabolic disorder lacking quantitative predictors of disease states. Read More

Acta Physiol (Oxf) 2020 May 14:e13496. Epub 2020 May 14.

Venetian Institute of Molecular Medicine (VIMM), Padova, Italy.

Aim: Resistance exercise increases muscle mass over time. However, the early signalling events leading to muscle growth are not yet well-defined. Here, we aim to identify new signalling pathways important for muscle remodelling after exercise. Read More

Syst Rev 2020 May 13;9(1):110. Epub 2020 May 13.

Medical Clinic Tuebingen, Department of Sports Medicine, Hoppe-Seyler Str. 6, 72076, Tuebingen, Germany.

Background: To date multimorbidity has not received much attention in health policies, even though multiple chronic diseases put high demands on the health care system in industrial nations. Enormous costs of care and a physically, mentally, and socially reduced quality of life are common consequences of multimorbidity. Physical activity (PA) has a positive preventive and therapeutic effect on common non-communicable diseases. Read More

JIMD Rep 2020 May 31;53(1):16-21. Epub 2020 Mar 31.

Department of Neurology, Copenhagen Neuromuscular Center, Rigshospitalet Copenhagen University Hospital Copenhagen Denmark.

The objective of this study was to investigate the fat and carbohydrate metabolism in a patient with propionic acidemia (PA) during exercise by means of indirect calorimetry and stable isotope technique. A 34-year-old patient with PA performed a 30-minute submaximal cycle ergometer test. Data were compared to results from six gender- and age-matched healthy controls. Read More

Brain Dev 2020 Aug 7;42(7):539-545. Epub 2020 May 7.

Department of Paediatric Neurology, School of Medicine, Dokuz Eylul University, Izmir, Turkey.

Background: Congenital disorders of glycosylation (CDG) is a heterogeneous group of congenital metabolic diseases with multisystem clinical involvement. ALG3-CDG is a very rare subtype with only 24 cases reported so far.

Case: Here, we report two siblings with dysmorphic features, growth retardation, microcephaly, intractable epilepsy, and hemangioma in the frontal, occipital and lumbosacral regions. Read More

Curr Med Chem 2020 May 4. Epub 2020 May 4.

Odesa I. I. Mechnikov National University, Odessa. Ukraine.

The obesity and the associated non-communicable diseases (NCDs) were globally increasing in their prevalence. While the modern-day lifestyle required less ventilation of metabolic energy through muscular activities, this lifestyle transition also provided the unlimited accession to foods around the clock, which prolonged the daily eating period of foods that contained high calorie and high glycemic load. These situations promoted the high continuous flux of carbon substrate availability in mitochondria and induced the indecisive bioenergetic switches. Read More

Skelet Muscle 2020 Apr 27;10(1):12. Epub 2020 Apr 27.

Laboratory of Molecular and Experimental Cardiology, TU Dresden, Heart Center Dresden, Dresden, Germany.

Background: Pulmonary hypertension leads to right ventricular heart failure and ultimately to cardiac cachexia. Cardiac cachexia induces skeletal muscles atrophy and contractile dysfunction. MAFbx and MuRF1 are two key proteins that have been implicated in chronic muscle atrophy of several wasting states. Read More

Biosci Microbiota Food Health 2020 25;39(2):23-32. Epub 2019 Dec 25.

Department of Medical Biology, Meram Faculty of Medicine, Necmettin Erbakan University, Konya, Turkey.

The human body contains many microorganisms, including a large number of bacteria, viruses, fungi, and protozoa, which are referred to as the microbiota. Compared with the number of cells comprising the human body, that of the microbiota has been found to be much larger. The microbiome is defined as microorganisms and their genomes have been shown to contain about 100 times more genes than the human genome. Read More

Life (Basel) 2020 Apr 17;10(4). Epub 2020 Apr 17.

Messerli Institute, Krankenanstalt Rudolfstiftung, 1180 Vienna, Austria.

The aim of this review is to summarize and discuss recent findings and new insights in the etiology and phenotype of metabolic myopathies. The review relies on a systematic literature review of recent publications. Metabolic myopathies are a heterogeneous group of disorders characterized by mostly inherited defects of enzymatic pathways involved in muscle cell metabolism. Read More

Int J Mol Sci 2020 Apr 10;21(7). Epub 2020 Apr 10.

Department of Biomedical, Metabolic and Neural Sciences, University of Modena and Reggio Emilia, 41125 Modena, Italy.

Facioscapulohumeral muscular dystrophy (FSHD) is characterized by incomplete penetrance and intra-familial clinical variability. The disease has been associated with the genetic and epigenetic features of the D4Z4 repetitive elements at 4q35. Recently, D4Z4 hypomethylation has been proposed as a reliable marker in the FSHD diagnosis. Read More

Orphanet J Rare Dis 2020 Apr 10;15(1):90. Epub 2020 Apr 10.

Pôle Neurosciences - Service de Neurologie, Centre de Référence SLA et les maladies du neurone moteur, Hôpital Pasteur2, CHU de Nice Université Côte d'Azur, Nice, France.

Background: Kennedy's disease (KD), also known as spinal and bulbar muscular atrophy (SBMA), is a rare, adult-onset, X-linked recessive neuromuscular disease caused by CAG expansions in exon 1 of the androgen receptor gene (AR). The objective of the French national diagnostic and management protocol is to provide evidence-based best practice recommendations and outline an optimised care pathway for patients with KD, based on a systematic literature review and consensus multidisciplinary observations.

Results: The initial evaluation, confirmation of the diagnosis, and management should ideally take place in a tertiary referral centre for motor neuron diseases, and involve an experienced multidisciplinary team of neurologists, endocrinologists, cardiologists and allied healthcare professionals. Read More

Int J Mol Sci 2020 Apr 8;21(7). Epub 2020 Apr 8.

Department of Clinical and Experimental Cardiology, Heart Center, Amsterdam Cardiovascular Sciences, Amsterdam UMC, University of Amsterdam, 1105 AZ Amsterdam, The Netherlands.

Patients with very long-chain acyl-CoA dehydrogenase deficiency (VLCADD) can present with life-threatening cardiac arrhythmias. The pathophysiological mechanism is unknown. We reprogrammed fibroblasts from one mildly and one severely affected VLCADD patient, into human induced pluripotent stem cells (hiPSCs) and differentiated these into cardiomyocytes (VLCADD-CMs). Read More

Cells 2020 Mar 20;9(3). Epub 2020 Mar 20.

Inserm UMRS938, Saint-Antoine Research Center, Sorbonne University, 75012 Paris, France.

Variants in , encoding A-type lamins, are responsible for laminopathies including muscular dystrophies, lipodystrophies, and progeroid syndromes. Cardiovascular laminopathic involvement is classically described as cardiomyopathy in striated muscle laminopathies, and arterial wall dysfunction and/or valvulopathy in lipodystrophic and/or progeroid laminopathies. We report unexpected cardiovascular phenotypes in patients with -associated lipodystrophies, illustrating the complex multitissular pathophysiology of the disease and the need for specific cardiovascular investigations in affected patients. Read More

Lancet Neurol 2020 04 18;19(4):317-325. Epub 2020 Mar 18.

Department of Neurology, University Hospital Essen, Essen, Germany.

Background: Nusinersen is approved for the treatment of 5q spinal muscular atrophy of all types and stages in patients of all ages. Although clinical trials have shown improvements in motor function in infants and children treated with the drug, data for adults are scarce. We aimed to assess the safety and efficacy of nusinersen in adults with 5q spinal muscular atrophy. Read More

Nursing 2020 Apr;50(4):50-54

Marianne Bush is an RN contractor for a national wellness company.

Chronic fatigue syndrome (CFS) is a long-term, often misunderstood disorder that involves the nervous, immune, metabolic, endocrine, and digestive systems. This article describes the pathophysiology of CFS, signs and symptoms of CFS in adults, diagnostic criteria for CFS, and nursing considerations for patients with CFS. Read More

Hum Mol Genet 2020 May;29(7):1192-1204

Department of Human Genetics, Hannover Medical School, Carl-Neuberg-Str. 1, 30625 Hannover, Germany.

Congenital anomalies of the kidney and urinary tract (CAKUT) are the most common cause of end-stage kidney disease in children. While the genetic aberrations underlying CAKUT pathogenesis are increasingly being elucidated, their consequences on a cellular and molecular level commonly remain unclear. Recently, we reported rare heterozygous deleterious LIFR variants in 3. Read More

J Cachexia Sarcopenia Muscle 2020 Mar 10. Epub 2020 Mar 10.

Sorbonne Université, INSERM, AIM, Centre de Recherche en Myologie, UMRS 974, AP-HP, Hôpital Pitié Salpêtrière, Paris, France.

Background: Aldehyde dehydrogenases (ALDHs) are key players in cell survival, protection, and differentiation via the metabolism and detoxification of aldehydes. ALDH activity is also a marker of stem cells. The skeletal muscle contains populations of ALDH-positive cells amenable to use in cell therapy, whose distribution, persistence in aging, and modifications in myopathic context have not been investigated yet. Read More

Am J Clin Nutr 2020 05;111(5):983-996

International Center for the Assessment of Nutritional Status (ICANS), Department of Food Environmental and Nutritional Sciences (DeFENS), University of Milan, Milan, Italy.

Background: Knowledge on resting energy expenditure (REE) in spinal muscular atrophy type I (SMAI) is still limited. The lack of a population-specific REE equation has led to poor nutritional support and impairment of nutritional status.

Objective: To identify the best predictors of measured REE (mREE) among simple bedside parameters, to include these predictors in population-specific equations, and to compare such models with the common predictive equations. Read More

J Clin Med 2020 Mar 3;9(3). Epub 2020 Mar 3.

Regional Coordinator Centre for Rare Diseases, University Hospital of Udine, 33100 Udine, Italy.

Niemann-Pick type C (NPC) disease is an autosomal recessive lysosomal storage disorder caused by mutations in or genes. In 2009, the molecular characterization of 44 NPC Italian patients has been published. Here, we present an update of the genetic findings in 105 Italian NPC patients belonging to 83 unrelated families (77 NPC1 and 6 NPC2). Read More

Genes (Basel) 2020 02 28;11(3). Epub 2020 Feb 28.

Department of Biomedical, Metabolic and Neural Sciences, University of Modena and Reggio Emilia, 4,41121 Modena, Italy.

Facioscapulohumeral muscular dystrophy (FSHD) has been associated with the genetic and epigenetic molecular features of the CpG-rich D4Z4 repeat tandem array at 4q35. Reduced DNA methylation of D4Z4 repeats is considered part of the FSHD mechanism and has been proposed as a reliable marker in the FSHD diagnostic procedure. We considered the assessment of D4Z4 DNA methylation status conducted on distinct cohorts using different methodologies. Read More