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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 2018 Dec 5. 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 2018 Nov 21. 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

Mod Pathol 2018 Nov 6. 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

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 Oct 31. 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 2018 Oct 30. 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

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

Physiol Genomics 2018 Nov 31;50(11):929-939. Epub 2018 Aug 31.

Division of Pediatric Neurology, Department of Pediatrics, University of Florida College of Medicine , Gainesville, Florida.

Next-generation sequencing is commonly used to screen for pathogenic mutations in families with Mendelian disorders, but due to the pace of discoveries, gaps have widened for some diseases between genetic and pathophysiological knowledge. We recruited and analyzed 16 families with limb-girdle muscular dystrophy (LGMD) of Arab descent from Saudi Arabia and Sudan who did not have confirmed genetic diagnoses. The analysis included both traditional and next-generation sequencing approaches. Read More

Biochim Biophys Acta Mol Basis Dis 2019 Jan 18;1865(1):48-55. Epub 2018 Oct 18.

Center for Cardiovascular Research and Alternative Medicine, University of Wyoming College of Health Sciences, Laramie, WY 82071, USA. Electronic address:

The prevalence of cardiometabolic disease has reached an exponential rate of rise over the last decades owing to high fat/high caloric diet intake and satiety life style. Although the presence of dyslipidemia, insulin resistance, hypertension and obesity mainly contributes to the increased incidence of cardiometabolic diseases, population-based, clinical and genetic studies have revealed a rather important role for inherited myopathies and endocrine disorders in the ever-rising metabolic anomalies. Inherited metabolic and endocrine diseases such as glycogen storage and lysosomal disorders have greatly contributed to the overall prevalence of cardiometabolic diseases. Read More

J Cachexia Sarcopenia Muscle 2018 Oct 18. Epub 2018 Oct 18.

Department of Experimental Medicine, University of Perugia, Perugia, Italy.

Emerging evidence suggests that the signalling of the Receptor for Advanced Glycation End products (RAGE) is critical for skeletal muscle physiology controlling both the activity of muscle precursors during skeletal muscle development and the correct time of muscle regeneration after acute injury. On the other hand, the aberrant re-expression/activity of RAGE in adult skeletal muscle is a hallmark of muscle wasting that occurs in response to ageing, genetic disorders, inflammatory conditions, cancer, and metabolic alterations. In this review, we discuss the mechanisms of action and the ligands of RAGE involved in myoblast differentiation, muscle regeneration, and muscle pathological conditions. Read More

Curr Med Res Opin 2018 Nov 9:1-10. Epub 2018 Nov 9.

d Assistance Publique-Hôpitaux de Paris (AP-HP), Hôpital Universitaire Robert Debré , Service d'endocrinologie diabétologie pédiatrique, Centre de Compétence des Pathologies Rares de l'Insulino-Sécrétion et de l'Insulino-Sensibilité (PRISIS) , Paris , France.

Background: Lipodystrophic syndromes are rare diseases of genetic or acquired origin characterized by partial or generalized lack of body fat. Early detection and diagnosis are crucial to prevent and manage associated metabolic dysfunctions, i.e. Read More

Diabetes Metab 2018 Oct 1. Epub 2018 Oct 1.

CHU de Lille, Endocrinology, Diabetology and Metabolism, Université de Lille, Inserm, UMR 1190, Translational research in diabetes, European Genomic Institute for Diabetes (EGID), 59000 Lille, France. Electronic address:

Aims: Mutations of the LMNA gene encoding lamin A/C induce heterogeneous phenotypes ranging from cardiopathies and myopathies to lipodystrophies. The aim of this study was to compare cardiometabolic complications in patients with heterozygous LMNA mutations at the 482nd codon, the 'hotspot' for partial lipodystrophy, with carriers of other, non-R482 LMNA mutations.

Methods And Results: This study included 29 patients with R482 LMNA mutations, 29 carriers of non-R482 LMNA mutation and 19 control subjects. Read More

J Appl Physiol (1985) 2018 Oct 4. Epub 2018 Oct 4.

School of Health and Human Performance, Dublin City University, Ireland.

Context: Physical inactivity and sedentary behaviours are independent risks factors for numerous diseases.

Objective: We examined the capacity of a nutrient cocktail composed of polyphenols, omega-3 fatty acids, vitamin E and selenium to prevent the expected metabolic alterations induced physical activity and sedentary behaviors.

Design/setting/participants: Twenty healthy trained men (averaging∼14,000 steps/d and engaged in sports) were randomly divided into a control group (no supplementation) and a cocktail group for a 20-day free-living intervention during which they stopped exercise and decreased their daily steps to averaging∼3000. Read More

Int J Mol Sci 2018 Sep 27;19(10). Epub 2018 Sep 27.

Department of Metabolic Biochemistry, Rouen University Hospital, 76000 Rouen, France.

Carnitine Palmitoyl transferase 2 (CPT II) is involved in long-chain fatty-acid mitochondrial transport. Three clinical phenotypes of CPT II deficiency have been described: Lethal neonatal onset, infantile severe form, and the late onset more common muscular form. The muscular form of CPT II deficiency is characterized by pain crises and rhabdomyolysis triggered by energy-dependent factors. Read More

Orphanet J Rare Dis 2018 Sep 26;13(1):170. Epub 2018 Sep 26.

Department of Developmental Neuroscience and Molecular Medicine Neuromuscular Unit and Child Neurology, IRCCS Fondazione Stella Maris, Via dei Giacinti 2, 56018, Pisa, Italy.

Background: Dystroglycanopathy (α-DG) is a relatively common, clinically and genetically heterogeneous category of congenital forms of muscular dystrophy (CMD) and limb-girdle muscular dystrophy (LGMD) associated with hypoglycosylated α-dystroglycan. To date, mutations in at least 19 genes have been associated with α-DG. One of them, GMPPB, encoding the guanosine-diphosphate-mannose (GDP-mannose) pyrophosphorylase B protein, has recently been associated with a wide clinical spectrum ranging from severe Walker-Warburg syndrome to pseudo-metabolic myopathy and even congenital myasthenic syndromes. Read More

Biochim Biophys Acta Mol Basis Dis 2018 11 6;1864(11):3708-3722. Epub 2018 Sep 6.

Department of Neurology, Columbia University Medical Center, New York, NY, United States. Electronic address:

Nephrotic syndrome (NS), a frequent chronic kidney disease in children and young adults, is the most common phenotype associated with primary coenzyme Q (CoQ) deficiency and is very responsive to CoQ supplementation, although the pathomechanism is not clear. Here, using a mouse model of CoQ deficiency-associated NS, we show that long-term oral CoQ supplementation prevents kidney failure by rescuing defects of sulfides oxidation and ameliorating oxidative stress, despite only incomplete normalization of kidney CoQ levels and lack of rescue of CoQ-dependent respiratory enzymes activities. Liver and kidney lipidomics, and urine metabolomics analyses, did not show CoQ metabolites. Read More

Muscle Nerve 2018 Sep 8. Epub 2018 Sep 8.

Laboratorio de Nutrición Molecular, Unidad de Investigación Médica en Nutrición, Hospital de Pediatría, Centro Médico Nacional Siglo XXI, Instituto Mexicano del Seguro Social, Ciudad de México, México.

Introduction: In Duchenne muscular dystrophy (DMD) muscle is replaced by adipose tissue. The role of dietary intake (DI) in DMD has not been evaluated. In this study we examined body composition, body mass index (BMI), and adequacy of DI in patients with DMD and evaluated the influence of DI on body composition. Read More

PLoS One 2018 29;13(8):e0203198. Epub 2018 Aug 29.

Genome Integrity and Structural Biology Laboratory, National Institute of Environmental Health Sciences, National Institutes of Health, DHHS, Research Triangle Park, NC, United States of America.

Mutations in mitochondrial DNA (mtDNA) have been linked to a variety of metabolic, neurological and muscular diseases which can present at any time throughout life. MtDNA is replicated by DNA polymerase gamma (Pol γ), twinkle helicase and mitochondrial single-stranded binding protein (mtSSB). The Pol γ holoenzyme is a heterotrimer consisting of the p140 catalytic subunit and a p55 homodimeric accessory subunit encoded by the nuclear genes POLG and POLG2, respectively. Read More

Front Physiol 2018 10;9:1053. Epub 2018 Aug 10.

Center for Human Nutrition, University of Colorado Health Sciences Center, Denver, CO, United States.

The mammalian body is a complex physiologic "ecosystem" in which cells compete for calories (i.e., nutrient-energy). Read More

J Proteome Res 2018 Oct 5;17(10):3333-3347. Epub 2018 Sep 5.

Institute for Genetics , Cologne Excellence Cluster on Cellular Stress Responses in Aging-Associated Diseases (CECAD) , Joseph-Stelzmann-Strasse 26 , 50931 Cologne , Germany.

Skeletal muscles are composed of heterogeneous collections of fibers with different metabolic profiles. With varied neuronal innervation and fiber-type compositions, each muscle fulfils specific functions and responds differently to stimuli and perturbations. We assessed individual fibers by mass spectrometry to dissect protein changes after loss of neuronal innervation due to section of the sciatic nerve in mice. Read More

Nucleus 2018 ;9(1):442-459

c CNR Institute of Molecular Genetics , Unit of Bologna , Bologna , Italy.

Lamin A/C gene mutations can be associated with cardiac diseases, usually referred to as 'cardiolaminopathies' characterized by arrhythmic disorders and/or left ventricular or biventricular dysfunction up to an overt picture of heart failure. The phenotypic cardiac manifestations of laminopathies are frequently mixed in complex clinical patterns and specifically may include bradyarrhythmias (sinus node disease or atrioventricular blocks), atrial arrhythmias (atrial fibrillation, atrial flutter, atrial standstill), ventricular tachyarrhythmias and heart failure of variable degrees of severity. Family history, physical examination, laboratory findings (specifically serum creatine phosphokinase values) and ECG findings are often important 'red flags' in diagnosing a 'cardiolaminopathy'. Read More

Neurotherapeutics 2018 Oct;15(4):1112-1126

Department of Medicine and Health Science, University of Molise, 86100, Campobasso, Italy.

Epilepsy of infancy with migrating focal seizures (EIMFS) is a rare early-onset developmental epileptic encephalopathy resistant to anti-epileptic drugs. The most common cause for EIMFS is a gain-of-function mutation in the KCNT1 potassium channel gene, and treatment with the KCNT1 blocker quinidine has been suggested as a rational approach for seizure control in EIMFS patients. However, variable results on the clinical efficacy of quinidine have been reported. Read More

Prog Lipid Res 2018 10 9;72:1-17. Epub 2018 Aug 9.

Orthopaedic Research & Biotechnology, The Children's Hospital at Westmead, Westmead, NSW, Australia.; Discipline of Paediatrics & Child Heath, Faculty of Medicine, University of Sydney, Camperdown, NSW, Australia. Electronic address:

Lipid storage myopathies (LSMs) are a heterogeneous group of genetic disorders that present with abnormal lipid storage in multiple body organs, typically muscle. Patients can clinically present with cardiomyopathy, skeletal muscle weakness, myalgia, and extreme fatigue. An early diagnosis is crucial, as some LSMs can be managed by simple nutraceutical supplementation. Read More

Mol Genet Metab Rep 2018 Sep 1;16:76-81. Epub 2018 Aug 1.

Consortium for Health and Military Performance, Department of Military and Emergency Medicine, Uniformed Services University, Bethesda, MD 20814, United States.

Exertional rhabdomyolysis is a metabolic event characterized by the release of muscle content into the circulation due to exercise-driven breakdown of skeletal muscle. Recurrent exertional rhabdomyolysis has been associated with metabolic myopathies and mitochondrial disorders, a clinically and genetically heterogeneous group of predominantly autosomal recessive, monogenic conditions. Although genetics factors are well recognized in recurrent rhabdomyolysis, the underlying causes and mechanisms of exercise-driven muscle breakdown remain unknown in a substantial number of cases. Read More

Orphanet J Rare Dis 2018 Jul 19;13(1):120. Epub 2018 Jul 19.

Institute of Human Genetics, Technische Universität München, Trogerstrasse 32, 81675, Munich, Germany.

Background: Mitochondrial acyl-CoA dehydrogenase family member 9 (ACAD9) is essential for the assembly of mitochondrial respiratory chain complex I. Disease causing biallelic variants in ACAD9 have been reported in individuals presenting with lactic acidosis and cardiomyopathy.

Results: We describe the genetic, clinical and biochemical findings in a cohort of 70 patients, of whom 29 previously unpublished. Read More

Contemp Clin Trials Commun 2018 Sep 18;11:10-19. Epub 2018 May 18.

Department of Medical Physiology, School of Medicine, University of Granada, Spain.

Aims: The secreted form of the α-Klotho gene (S-Klotho), which is considered a powerful biomarker of longevity, makes it an attractive target as an anti-ageing therapy against functional decline, sarcopenic obesity, metabolic and cardiovascular diseases, osteoporosis, and neurodegenerative disorders. The S-Klotho plasma levels could be related to physical exercise inasmuch physical exercise is involved in physiological pathways that regulate the S-Klotho plasma levels. FIT-AGEING will determine the effect of different training modalities on the S-Klotho plasma levels (primary outcome) in sedentary healthy adults. Read More

Front Physiol 2018 22;9:773. Epub 2018 Jun 22.

Department of Neurology, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.

Creatine serves as fast energy buffer in organs of high-energy demand such as brain and skeletal muscle. L-Arginine:glycine amidinotransferase (AGAT) and guanidinoacetate -methyltransferase are responsible for endogenous creatine synthesis. Subsequent uptake into target organs like skeletal muscle, heart and brain is mediated by the creatine transporter (CT1, SLC6A8). Read More

Clin Nucl Med 2018 Sep;43(9):e316-e318

South Coast Radiology, Gold Coast University Hospital, Southport, Queensland, Australia.

A 38-year-old woman presented with extreme fatigue and multiple lung nodules. She was referred for a PET/CT, which demonstrated multiple FDG-avid pulmonary nodules and lymph nodes with intense uptake within multiple muscle groups predominantly involving the paraspinal muscles and muscles of mastication. Histopathology of a paraspinal muscle biopsy revealed increased skeletal muscle lipid stores and increased mitochondria with normal morphology. Read More

Essays Biochem 2018 07 20;62(3):443-454. Epub 2018 Jul 20.

Division of Metabolism and Research Unit of Metabolic Biochemistry, Children's Hospital Bambino Gesù, Rome, Italy

Biomarkers are an indicator of biologic or pathogenic processes, whose function is indicating the presence/absence of disease or monitoring disease course and its response to treatment. Since mitochondrial disorders (MDs) can represent a diagnostic challenge for clinicians, due to their clinical and genetic heterogeneity, the identification of easily measurable biomarkers becomes a high priority. Given the complexity of MD, in particular the primary mitochondrial respiratory chain (MRC) diseases due to oxidative phosphorylation (OXPHOS) dysfunction, a reliable single biomarker, relevant for the whole disease group, could be extremely difficult to find, most of times leading the physicians to better consider a 'biosignature' for the diagnosis, rather than a single biochemical marker. Read More

Semin Pediatr Neurol 2018 07 1;26:50-51. Epub 2017 Apr 1.

Section of Genetics and Metabolism, Department of Pediatrics, University of Arkansas for Medical Sciences, Little Rock, AR. Electronic address:

We present the case of a young woman with worsening attacks of muscle pain and rhabdomyolysis beginning at age 14. Initial metabolic testing and electromyography revealed findings of a nonspecific myopathy. Diagnostic options were discussed among the members of a neurogenetics clinic team. Read More

J Vet Intern Med 2018 Jul 29;32(4):1442-1446. Epub 2018 Jun 29.

Department of Large Animal Clinical Sciences, Michigan State University, East Lansing, Michigan.

A 12-hours-old Paint filly was examined because of weakness and dull mentation after birth. Despite IV administered dextrose, the foal remained persistently hypoglycemic with increase in serum activity of muscle and liver enzymes. A postmortem diagnosis of lipid myopathy most similar to multiple acyl-CoA dehydrogenase deficiency (MADD) was confirmed by findings of myofiber lipid accumulation, elevated urine organic acids, and serum free acylcarnitines with respect to control foals. Read More

BMJ Case Rep 2018 Jun 20;2018. Epub 2018 Jun 20.

General and Endocrine Surgery, Footscray Hospital, Footscray, Victoria, Australia.

Abdominal compartment syndrome (ACS) is associated with significant morbidity and mortality requiring prompt treatment. We report a rare case of a 57-year-old man who developed acute lower limb ischaemia, severe metabolic acidosis and renal impairment from massive faecal impaction of unknown aetiology resulting in ACS causing occlusion of the right common iliac artery. This was treated with faecal disimpaction, which eventually resulted in slow but full recovery. Read More

Nutrients 2018 Jun 20;10(6). Epub 2018 Jun 20.

Department of Physiology and Biophysics, University of Illinois at Chicago, Chicago, IL 60612, USA.

The interactions between nutrition and metabolism and skeletal muscle have long been known. Muscle is the major metabolic organ—it consumes more calories than other organs—and therefore, there is a clear need to discuss these interactions and provide some direction for future research areas regarding muscle pathologies. In addition, new experiments and manuscripts continually reveal additional highly intricate, reciprocal interactions between metabolism and muscle. Read More

Orphanet J Rare Dis 2018 Jun 20;13(1):97. Epub 2018 Jun 20.

Orphan Europe, Paris, France.

Background: Hyperammonaemia is a key sign of decompensation in organic acidurias (OAs) and can contribute to severe neurological complications, thus requiring rapid treatment.

Methods: A post-hoc analysis of two retrospective studies analysed the efficacy of carglumic acid ± ammonia (NH) scavengers compared with scavengers alone for reducing plasma NH levels in patients with OAs and hyperammonaemia (plasma NH > 60 μmol/L) during decompensation episodes. NH was analysed in 12-h periods at 0-48 h and 24-h periods at 48-120 h. Read More

Adv Neurobiol 2018 ;20:213-238

Department of Biochemistry, University of Illinois, Urbana-Champaign, IL, USA.

RNA metabolism impacts different steps of mRNA life cycle including splicing, polyadenylation, nucleo-cytoplasmic export, translation, and decay. Growing evidence indicates that defects in any of these steps lead to devastating diseases in humans. This chapter reviews the various RNA metabolic mechanisms that are disrupted in Myotonic Dystrophy-a trinucleotide repeat expansion disease-due to dysregulation of RNA-Binding Proteins. Read More

Front Physiol 2018 23;9:560. Epub 2018 May 23.

Laboratory of Translational Endocrinology, Carlos Chagas Filho Institute of Biophysics, Federal University of Rio de Janeiro, Rio de Janeiro, Brazil.

Skeletal muscle maintains posture and enables movement by converting chemical energy into mechanical energy, further contributing to basal energy metabolism. Thyroid hormones (thyroxine, or T4, and triiodothyronine, or T3) participate in contractile function, metabolic processes, myogenesis and regeneration of skeletal muscle. T3 classically modulates gene expression after binding to thyroid hormone nuclear receptors. Read More

Crit Care Clin 2018 Jul;34(3):357-381

Interdepartmental Division of Critical Care Medicine, University of Toronto, Toronto, ON, Canada; Division of Respirology, Department of Medicine, University Health Network, Toronto General Hospital, 585 University Avenue, Peter Munk Building, 11th Floor Room 192, Toronto, ON M5G 2N2, Canada. Electronic address:

Both limb muscle weakness and respiratory muscle weakness are exceedingly common in critically ill patients. Respiratory muscle weakness prolongs ventilator dependence, predisposing to nosocomial complications and death. Limb muscle weakness persists for months after discharge from intensive care and results in poor long-term functional status and quality of life. Read More

Handb Clin Neurol 2018 ;155:191-203

Neuroscience Axis, CHU de Québec-Laval University, Quebec, QC, Canada; Neuromuscular and Neurogenetic Disease Clinic, CHU de Québec-Laval University, Quebec, QC, Canada. Electronic address:

The presence of spasticity and pyramidal features is a hallmark of some of hereditary ataxias, such as autosomal-recessive spastic ataxia of Charlevoix-Saguenay, other primary spastic ataxias, Friedreich ataxia, or ataxia with isolated vitamin E deficiency. Certain spastic paraplegias, such as spastic paraplegia 7, may present as an ataxic phenotype and often share common pathophysiologic pathways with cerebellar ataxias. Because of the rarity and genetic heterogeneity of these conditions, their molecular diagnosis remains challenging and time consuming. Read More

Diseases 2018 May 21;6(2). Epub 2018 May 21.

PanTherapeutics, CH1095 Lutry, Switzerland.

Applications of viral vectors have found an encouraging new beginning in gene therapy in recent years. Significant improvements in vector engineering, delivery, and safety have placed viral vector-based therapy at the forefront of modern medicine. Viral vectors have been employed for the treatment of various diseases such as metabolic, cardiovascular, muscular, hematologic, ophthalmologic, and infectious diseases and different types of cancer. Read More

Neuromuscul Disord 2018 Jul 9;28(7):586-591. Epub 2018 Apr 9.

Dipartimento di Medicina di Precisione, Università degli Studi della Campania "Luigi Vanvitelli", Napoli, Italy; Telethon Institute of Genetics and Medicine (TIGEM), Pozzuoli, Italy.

Mutations in the GAA gene may cause a late onset Pompe disease presenting with proximal weakness without the characteristic muscle pathology, and therefore a test for GAA activity is the first tier analysis in all undiagnosed patients with hyperCKemia and/or limb-girdle muscular weakness. By using MotorPlex, a targeted gene panel for next generation sequencing, we analyzed GAA and other muscle disease-genes in a large cohort of undiagnosed patients with suspected inherited skeletal muscle disorders (n = 504). In this cohort, 275 patients presented with limb-girdle phenotype and/or an isolated hyperCKemia. Read More

Arch Endocrinol Metab 2018 Jun 17;62(3):376-382. Epub 2018 May 17.

UETeM - Molecular Pathology Group. IDIS-CIMUS, University of Santiago de Compostela, Spain.

Laminopathies are genetic disorders associated with alterations in nuclear envelope proteins, known as lamins. The LMNA gene encodes lamins A and C, and LMNA mutations have been linked to diseases involving fat (type 2 familial partial lipodystrophy [FPLD2]), muscle (type 2 Emery-Dreifuss muscular dystrophy [EDMD2], type 1B limb-girdle muscular dystrophy [LGMD1B], and dilated cardiomyopathy), nerves (type 2B1 Charcot-Marie-Tooth disease), and premature aging syndromes. Moreover, overlapping syndromes have been reported. Read More