Search Our Scientific Publications & Authors

Vet Res 2019 Feb 18;50(1):14. Epub 2019 Feb 18.

National Institute of Aquatic Resources, Technical University of Denmark, Kongens Lyngby, Denmark.

Piscine orthoreovirus (PRV) mediated diseases have emerged throughout salmonid aquaculture. Three PRV subtypes are currently reported as causative agents of or in association with diseases in different salmonid species. PRV-1 causes heart and skeletal muscle inflammation (HSMI) in Atlantic salmon (Salmo salar) and is associated with jaundice syndrome in farmed chinook salmon (Oncorhynchus tshawytscha). Read More

Int J Endocrinol 2019 15;2019:3054820. Epub 2019 Jan 15.

Department of Pathology and Pathophysiology, Wuhan University School of Basic Medical Sciences, Wuhan, 430071 Hubei, China.

Objective: The involvement of phosphodiesterase type 5 (PDE5) in the development of insulin resistance has been reported recently. However, the underlying molecular mechanism remains unclear. The present study aims at investigating the potential impacts of PDE5A on insulin signaling in C2C12 skeletal muscle myotubes and uncover the related mechanism. Read More

Skeletal Radiol 2019 Feb 15. Epub 2019 Feb 15.

Department of Radiology, University of California, San Diego Medical Center, 408 Dickinson Street, San Diego, 92103, CA, USA.

This article will review the anatomy and common pathologies affecting the peroneus longus muscle and tendon. The anatomy of the peroneus longus is complex and its long course can result in symptomatology referable to the lower leg, ankle, hindfoot, and plantar foot. Proximally, the peroneus longus muscle lies within the lateral compartment of the lower leg with its distal myotendinous junction arising just above the level of the ankle. Read More

Nat Commun 2019 Feb 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

Mol Ther Methods Clin Dev 2019 Mar 18;12:202-222. Epub 2019 Jan 18.

Department of Infectious Diseases/Virology, Heidelberg University Hospital, Heidelberg, Germany.

Parvoviruses are highly attractive templates for the engineering of safe, efficient, and specific gene therapy vectors, as best exemplified by adeno-associated virus (AAV). Another candidate that currently garners increasing attention is human bocavirus 1 (HBoV1). Notably, HBoV1 capsids can cross-package recombinant (r)AAV2 genomes, yielding rAAV2/HBoV1 chimeras that specifically transduce polarized human airway epithelia (pHAEs). Read More

Drugs 2019 Feb 14. Epub 2019 Feb 14.

Division of Neurology, Department of Medicine, Faculty of Medicine and Dentistry, University of Alberta Hospital, 7-112 Clinical Sciences Building, 11350-83 Ave, Edmonton, AB, T6G 2G3, Canada.

Myasthenia gravis is a rare, heterogeneous, classical autoimmune disease characterized by fatigable skeletal muscle weakness, which is directly mediated by autoantibodies targeting various components of the neuromuscular junction, including the acetylcholine receptor, muscle specific tyrosine kinase, and lipoprotein-related protein 4. Subgrouping of myasthenia gravis is dependent on the age of onset, pattern of clinical weakness, autoantibody detected, type of thymic pathology, and response to immunotherapy. Generalized immunosuppressive therapies are effective in all subgroups of myasthenia gravis; however, approximately 15% remain refractory and more effective treatments with improved safety profiles are needed. Read More

Clin Sci (Lond) 2019 Feb 12;133(3):465-481. Epub 2019 Feb 12.

Laboratory of Hepato-Gastroenterology, Institut de Recherche Expérimentale et Clinique, Université catholique de Louvain (UCLouvain), Brussels, Belgium

Skeletal muscle is a tissue that represents 30-40% of total body mass in healthy humans and contains up to 75% of total body proteins. It is thus the largest organ in non-obese subjects. The past few years have seen increasing awareness of the prognostic value of appreciating changes in skeletal muscle compartment in various chronic diseases. Read More

Lab Invest 2019 Feb 11. Epub 2019 Feb 11.

Department of Pathology, Case Western Reserve University, Cleveland, OH, USA.

Inclusion body myositis (IBM) is the most common cause of primary myopathy in individuals aged 50 years and over, and is pathologically characterized by protein aggregates of p62 and mislocalized cytoplasmic TDP-43, as well as mitochondrial abnormalities in affected muscle fibers. Our recent studies have shown the accumulation of TDP-43 in mitochondria in neurons from patients with amyotrophic lateral sclerosis (ALS) and frontotemporal degeneration (FTD), and revealed mitochondria as critical mediators of TDP-43 neurotoxicity. In this study, we investigated the association between mitochondria and TDP-43 in biopsied skeletal muscle samples from IBM patients. Read More

Aging Cell 2019 Feb 10:e12920. Epub 2019 Feb 10.

Department of Pathology, University of Michigan Medical School, Ann Arbor, Michigan.

Pharmacological treatments can extend mouse lifespan, but lifespan effects often differ between sexes. 17-α estradiol (17aE2), a less feminizing structural isomer of 17-β estradiol, produces lifespan extension only in male mice, suggesting a sexually dimorphic mechanism of lifespan regulation. We tested whether these anti-aging effects extend to anatomical and functional aging-important in late-life health-and whether gonadally derived hormones control aging responses to 17aE2 in either sex. Read More

Biol Blood Marrow Transplant 2019 Feb 6. Epub 2019 Feb 6.

Surgery, Vanderbilt University Medical Center, Nashville, Tennessee, USA.

New-onset post-transplant diabetes mellitus (PTDM) occurs frequently following allogeneic hematopoietic cell transplant (HCT). Although calcineurin inhibitors and corticosteroids are assumed the cause for hyperglycemia, patients developing PTDM have elevated fasting C-peptide levels before HCT and prior to immunosuppressive medications. To determine if PTDM results from established insulin resistance present before transplant, we performed oral glucose tolerance tests (OGTT) and measured whole-body, peripheral, and hepatic insulin sensitivity with euglycemic hyperinsulinemic clamps before and 90 days after HLA-identical sibling donor HCT in 20 patients without pre-transplant diabetes. Read More

Eur J Clin Nutr 2019 Feb 6. Epub 2019 Feb 6.

Department of Physiology, Pathology, Biostatistics, Orthopaedics and Endocrinology, St John's Medical College and Hospital, Bangalore, Karnataka, India.

Background: The rise in prevalence rates of Type 2 Diabetes among Indians is well recognized. The research focus has been primarily to understand the changes in insulin sensitivity and beta cell dysfunction among Indians with Type 2 Diabetes. However, no data are available on the role of peripheral tissue, in particular intramyocellular lipid (IMCL) content and its impact on glucose homeostasis among Indians with prediabetes. Read More

Diabetes 2019 Feb 6. Epub 2019 Feb 6.

Transgenics Core.

Proximal tubular epithelial cells are highly energy demanding. Their energy need is covered mostly from mitochondrial fatty acid oxidation. It is suggested, but not entirely clear whether derailments in fatty acid metabolism and mitochondrial dysfunction are forerunners of tubular damage. Read More

FASEB J 2019 Feb 6:fj201802209R. Epub 2019 Feb 6.

Department of Pharmacology and Laboratory of Aging and Nervous Diseases, Jiangsu Key Laboratory of Translational Research and Therapy for Neuro-Psycho-Diseases, School of Pharmaceutical Sciences, Soochow University, Suzhou, China.

TP53-induced glycolysis and apoptosis regulator (TIGAR), a glycolytic inhibitor, plays vital roles in regulating cellular metabolism and oxidative stress. However, the role of highly expressed TIGAR in skeletal muscle remains unexplored. In the present study, TIGAR levels varied in different skeletal muscles and fibers. Read More

Int J Mol Sci 2019 Feb 2;20(3). Epub 2019 Feb 2.

Department of Immunology, Instituto Nacional de Cardiología "Ignacio Chávez", Juan Badiano 1, Sección XVI, Tlalpan, Mexico City 14080, Mexico.

Although there are several reviews that report the interrelationship between sarcopenia and obesity and insulin resistance, the relation between sarcopenia and the other signs that compose the metabolic syndrome (MetS) has not been extensively revised. Here, we review the mechanisms underlying MetS-related sarcopenia and discuss the possible therapeutic measures proposed. A vicious cycle between the loss of muscle and the accumulation of intramuscular fat might be associated with MetS via a complex interplay of factors including nutritional intake, physical activity, body fat, oxidative stress, proinflammatory cytokines, insulin resistance, hormonal changes, and mitochondrial dysfunction. Read More

Matrix Biol 2019 Feb 1. Epub 2019 Feb 1.

Centro de Envejecimiento y Regeneración, CARE Chile UC, Chile; Departamento de Biología Celular y Molecular, Chile. Electronic address:

Muscular fibrosis is caused by excessive accumulation of extracellular matrix (ECM) that replaces functional tissue, and it is a feature of several myopathies and neuropathies. Knowledge of the biology and regulation of pro-fibrotic factors is critical for the development of new therapeutic strategies. Upon unilateral sciatic nerve transection, we observed accumulation of ECM proteins such as collagen and fibronectin in the denervated hindlimb, together with increased levels of the profibrotic factors transforming growth factor type β (TGF-β) and connective tissue growth factor (CTGF/CCN2). Read More

Hum Mol Genet 2019 Feb 1. Epub 2019 Feb 1.

Genetics Research Centre, Molecular and Clinical Sciences Institute, St George's University of London, Cranmer Terrace, London, UK.

Hypertrophic cardiomyopathy (HCM) is the most common inherited cardiovascular disorder, yet the genetic cause of up to 50% of cases remains unknown. Here we show that mutations in KLHL24 cause hypertrophic cardiomyopathy in humans. Using genome-wide linkage analysis and exome sequencing we identified homozygous mutations in KLHL24 in two consanguineous families with HCM. Read More

Mol Genet Genomic Med 2019 Feb 3:e561. Epub 2019 Feb 3.

Department of Echocardiography, Zhongshan Hospital, Shanghai Institute of Cardiovascular Disease, Shanghai Institute of Medical Imaging, Fudan University, Shanghai, China.

Background: Danon disease is an X-linked dominant hereditary condition caused by mutations in the gene encoding lysosomal-associated membrane protein 2 (LAMP2), leading to failure of lysosome binding to autophagosomes, accumulation of glycogen in the heart, and abnormal cardiac function.

Methods: We describe identification of a mutation in LAMP2, c.741+1G>T, in a family with Danon disease by whole exome sequencing. Read More

Surg Pathol Clin 2019 Mar 20;12(1):51-62. Epub 2018 Dec 20.

Department of Pathology, Memorial Sloan Kettering Cancer Center, 1275 York Avenue, New York, NY 10065, USA. Electronic address:

Myogenic sarcomas include soft tissue sarcomas that show skeletal muscle differentiation (rhabdomyosarcoma) and those with smooth muscle differentiation (leiomyosarcoma). Rhabdomyosarcomas are more common in the pediatric age group and leiomyosarcomas occur more often in the adult population. Based on the clinico-pathologic features and genetic abnormalities identified, the rhabdomyosarcomas are classified into embryonal, alveolar, spindle cell/sclerosing, and pleomorphic subtypes. Read More

Clin Imaging 2019 Jan 5;55:18-22. Epub 2019 Jan 5.

Department of Radiology, Kyung Hee University College of Medicine, Kyung Hee University Hospital, #26 Kyunghee-daero, Dongdaemun-gu, Seoul 02447, Republic of Korea. Electronic address:

Neuromuscular choristomas are rare tumors with mature skeletal muscle elements admixed with neural elements. Follow-up results are limited, the natural history of neuromuscular choristomas is poorly understood. To date, 14 cases of sciatic nerve neuromuscular choristomas have been reported, but follow-up results were provided only for 10 cases (median duration: 2 years). Read More

Circulation 2019 Jan 31. Epub 2019 Jan 31.

Neuromuscular and Cardiovascular Cell Biology, Max-Delbrueck-Center, Germany.

Background: Titin is a giant elastic protein that spans the half-sarcomere from Z-disk to M-band. It acts as a molecular spring and mechanosensor and has been linked to striated muscle disease. The pathways that govern titin dependent cardiac growth and contribute to disease are diverse and difficult to dissect. Read More

Neurol Neuroimmunol Neuroinflamm 2019 Mar 24;6(2):e535. Epub 2018 Dec 24.

Department of Neurology (N.U., K.T., C.I., A.U., A.K., T.T., J.S.), Graduate School of Medicine, University of Tokyo; Division of Neurology (M.K., K.K.), Department of Internal Medicine, National Defense Medical College, Saitama; Division of Neurology (Y. Shiio), Tokyo Teishin Hospital; Department of Neurology (Y. Sakurai), Mitsui Memorial Hospital; Department of Neurology (Y.H.), Teikyo University School of Medicine; and Department of Neurology (K.Y., S.N.-E.), Fukushima Medical University, Japan.

Objective: To provide evidence that idiopathic inflammatory myopathy (IM) with myasthenia gravis (MG) frequently shows thymoma association and polymyositis (PM) pathology and shares clinicopathologic characteristics with IM induced by immune checkpoint inhibitors (ICIs).

Methods: We analyzed the clinicopathologic features of 10 patients with idiopathic IM and MG identified in 970 consecutive patients with biopsy-proven IM.

Results: Seven patients (70%) had thymoma. Read More

Front Immunol 2018 11;9:3143. Epub 2019 Jan 11.

Department of Pathology and Immunology, Faculty of Medicine, University of Geneva, Geneva, Switzerland.

Leukocyte migration is a crucial process in both homeostatic and inflammatory conditions. The spatiotemporal distribution of immune cells is balanced between processes of cellular mobilization into the bloodstream, their adhesion to vascular beds and trafficking into tissues. Systemic regulation of leukocyte mobility is achieved by different signals including neuronal and hormonal cues, of which the catecholamines and glucocorticoids have been most extensively studied. Read More

Muscle Nerve 2019 Jan 24. Epub 2019 Jan 24.

Department of Medical and Biological Physics, Kazan State Medical University, Kazan, Russia.

Introduction: The aim of this study was to compare the effects of adenosine-5'-triphosphate (ATP) and adenosine on the contractility of rodent extensor digitorum longus (EDL) muscle at normal and low temperatures.

Methods: Contractions of rat and mouse isolated EDL were induced by either electrical stimulation (ES) or exogenous carbachol and recorded in the presence of ATP or adenosine (both at 100 μM).

Results: ATP at all temperatures caused a decrease of the contractions induced by carbachol in rat and mouse EDL and ES-induced contractions in rat EDL, while it potentiated the ES-induced contractions of mouse EDL. Read More

Oncol Lett 2019 Feb 19;17(2):1477-1482. Epub 2018 Nov 19.

Department of Ophthalmology, Rigshospitalet, Copenhagen University Hospital, 2100 Copenhagen, Denmark.

The aim of the present study was to describe a rare case of orbital precursor B-lymphoblastic lymphoma (B-LBL) in an adult. A 56-year-old male in complete remission of a gastric precursor B-LBL was referred to our orbital clinic due to rapid development of left-sided painless periorbital swelling, diplopia, and proptosis. Complete ophthalmoplegia was observed. Read More

BMJ Case Rep 2019 Jan 22;12(1). Epub 2019 Jan 22.

PET/CT, Chronic Respiratory Diseases Research Center, National Research Institute of Tuberculosis and Lung Diseases (NRITLD), Shahid Beheshti University of Medical Sciences, Tehran, The Islamic Republic of Iran.

Rectal carcinoma with metastasis to skeletal muscle is a rare finding. According to literature review, 17 cases of skeletal muscle metastasis from colorectal carcinoma have been documented where only six cases were rectal carcinomas.We discuss a case of a middle-aged man with a known history of high-grade mucinous adenocarcinoma of the rectum, status post abdominoperineal resection followed by adjuvant radiotherapy and chemotherapy. Read More

Parasit Vectors 2019 Jan 22;12(1):49. Epub 2019 Jan 22.

Dipartimento di Medicina Veterinaria, Università degli Studi di Bari, Str. prov. per Casamassima km 3, 70010, Valenzano (Bari), Italy.

Background: Several species of nematodes included in the superfamily Metastrongyloidea are recognized agents of parasitic infections in felines. Aelurostrongylus abstrusus is the most prevalent species affecting the respiratory system of domestic cats. The route of infection in cats is supposed to be through ingestion of gastropod intermediate or paratenic hosts. Read More

J Clin Invest 2019 Feb 22;129(2):887-901. Epub 2019 Jan 22.

Center for Molecular and Translational Human Infectious Diseases Research, Houston Methodist Research Institute, and Department of Pathology and Genomic Medicine, Houston Methodist Hospital, Houston, Texas, USA.

Necrotizing fasciitis and myositis are devastating infections characterized by high mortality. Group A streptococcus (GAS) is a common cause of these infections, but the molecular pathogenesis is poorly understood. We report a genome-wide analysis using serotype M1 and M28 strains that identified GAS genes contributing to necrotizing myositis in nonhuman primates (NHP), a clinically relevant model. Read More

J Mol Cell Cardiol 2019 Jan 19;128:51-61. Epub 2019 Jan 19.

Department of Integrative Biology and Physiology, University of Minnesota Medical School, Minneapolis, MN, USA; Lillehei Heart Institute, University of Minnesota Medical School, Minneapolis, MN, USA. Electronic address:

Background: Duchenne muscular dystrophy (DMD) is an X-linked disease characterized by skeletal muscle degeneration and a significant cardiomyopathy secondary to cardiomyocyte damage and myocardial loss. The molecular basis of DMD lies in the absence of the protein dystrophin, which plays critical roles in mechanical membrane integrity and protein localization at the sarcolemma. A popular mouse model of DMD is the mdx mouse, which lacks dystrophin and displays mild cardiac and skeletal pathology that can be exacerbated to advance the disease state. Read More

Nat Rev Endocrinol 2019 Jan 17. Epub 2019 Jan 17.

Department of Physiology and Pharmacology, Karolinska Institutet, Stockholm, Sweden.

Perturbed diurnal rhythms are becoming increasingly evident as deleterious events in the pathology of metabolic diseases. Exercise is well characterized as a crucial intervention in the prevention and treatment of individuals with metabolic diseases. Little is known, however, regarding optimizing the timing of exercise bouts in order to maximize their health benefits. Read More

Exerc Sport Sci Rev 2019 Jan 16. Epub 2019 Jan 16.

Department of Pathology & Molecular Medicine, McMaster University, Hamilton ON Canada.

Recent evidence reveals impairments to skeletal muscle health in adolescent/young adults with type 1 diabetes (T1D). Interestingly, the observed changes in T1D are not unlike aged muscle; particularly, the alterations to mitochondria. Thus, we put forth the novel hypothesis that T1D may be considered a condition of accelerated muscle aging and that, similar to aging, mitochondrial dysfunction is a primary contributor to this complication. 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

Elife 2019 Jan 15;8. Epub 2019 Jan 15.

Computational Biology Program, Public Health Sciences Division, Fred Hutchinson Cancer Research Center, Seattle, United States.

DUX4 is a transcription factor whose misexpression in skeletal muscle causes facioscapulohumeral muscular dystrophy (FSHD). DUX4's transcriptional activity has been extensively characterized, but the DUX4-induced proteome remains undescribed. Here, we report concurrent measurement of RNA and protein levels in DUX4-expressing cells via RNA-seq and quantitative mass spectrometry. Read More

Zhong Nan Da Xue Xue Bao Yi Xue Ban 2018 Dec;43(12):1345-1350

Department of Rehabilitation Medicine, Third Xiangya Hospital, Central South University, Changsha 410013, China.

Objective: To explore the risk factors for and the pathogenic mechanisms of pelvic organ prolapse and urinary incontinence.
 Methods: A total of 2 668 females who completed pelvic floor functional detection from July 2014 to October 2015 in the Physical Examination Center of the Third Xiangya Hospital of Central South University. The patients were divide into 4 groups: an urinary incontinence group, an organ prolapse group, an organ prolapse with urinary incontinence group, and a normal group. Read More

Skelet Muscle 2019 Jan 11;9(1). Epub 2019 Jan 11.

Department of Chemical Biology, College of Chemistry and Chemical Engineering, Xiamen University, 422 Siming South Road, Xiamen, 361005, China.

Background: Cachexia is a complex metabolic disorder and muscle atrophy syndrome, impacting 80% patients with advanced cancers. Malignant glioma is considered to be one of the deadliest human cancers, accounting for about 60% of all primary brain tumors. However, cachexia symptoms induced by glioma have received little attention. Read More

Mol Reprod Dev 2019 Jan 11. Epub 2019 Jan 11.

Department of Physiology and Pathophysiology, School of Basic Medical Sciences, Peking University Health Science Center, Beijing, China.

Polycystic ovary syndrome (PCOS) is the most common endocrinopathy and an important metabolic disorder in women of reproductive age. Insulin resistance (IR) is one of its most important clinical features in patients with PCOS. Androgen excess-induced mitochondrial dysfunction contributes to skeletal muscle IR in dehydroepiandrosterone (DHEA)-induced PCOS mice. Read More

Pediatr Rheumatol Online J 2019 Jan 10;17(1). Epub 2019 Jan 10.

Department of Pediatrics, University of Texas McGovern Medical School, 6431 Fannin St. MSB 3.228, Houston, TX, USA.

Background: Idiopathic inflammatory myopathies (IIM) are a group of systemic autoimmune disorders primarily affecting skeletal muscle. Pediatric coronary artery dilation is frequently discussed in Kawasaki disease. However, it has yet to be reported in the IIMs or antisynthetase syndrome. Read More

J Physiol 2019 Jan 10. Epub 2019 Jan 10.

Department of Kinesiology, McMaster University, Hamilton, ON, Canada, L8S 4K1.

Key Points: Myotonic dystrophy type 1 (DM1), the second most common muscular dystrophy and most prevalent adult form of muscular dystrophy, is characterized by muscle weakness, wasting and myotonia. A microsatellite repeat expansion mutation results in RNA toxicity and dysregulation of mRNA processing, which are the primary downstream causes of the disorder. Recent studies with DM1 participants demonstrate that exercise is safe, enjoyable and elicits benefits in muscle strength and function; however, the molecular mechanisms of exercise adaptation in DM1 are undefined. Read More

Bone Rep 2019 Jun 31;10:100192. Epub 2018 Dec 31.

Fujii Memorial Institute of Medical Sciences, Tokushima University, Tokushima 770-8503, Japan.

Tumor-induced rickets/osteomalacia (TIO) is a rare paraneoplastic syndrome caused by tumors that ectopically express fibroblast growth factor 23 (FGF23). FGF23 is a bone-derived hormone that regulates serum phosphate concentrations. Patients with TIO develop hypophosphatemic rickets/osteomalacia due to FGF23 excess and suffer from symptoms such as leg deformities, bone pain, skeletal muscle myopathy, and multiple fractures/pseudofractures. Read More

J Cardiothorac Surg 2019 Jan 8;14(1). Epub 2019 Jan 8.

Institute of Inflammation and Ageing, College of Medical and Dental Sciences, Centre for Translational Inflammation Research, University of Birmingham Laboratories, Queen Elizabeth Hospital Birmingham, Edgbaston, Birmingham, B15 2TT, UK.

Background: The effects of the Nuss procedure on chest wall motion and spirometry have previously been described; we aimed to describe the effects of removal of the Nuss bar.

Methods: We studied 9 patients just prior to and 6 weeks after Nuss bar removal. Regional chest volume changes, synchrony of respiratory movement and spirometry were recorded using optoelectronic plethysmography (OEP) and compared. Read More

Skeletal Radiol 2019 Jan 7. Epub 2019 Jan 7.

Northwestern Memorial Hospital/Northwestern University, Chicago, IL, 606011, USA.

Pathology of the fascia lata attachment at the iliac crest (FLAIC) is an under-recognized and often misdiagnosed cause of lateral hip pain. The fascia lata has a broad attachment at the lateral iliac crest with contributions from the tensor fascia lata muscle, the iliotibial band, and the gluteal aponeurosis. The FLAIC is susceptible to overuse injuries, acute traumatic injuries, and degeneration. Read More

Neuroscientist 2019 Jan 7:1073858418822993. Epub 2019 Jan 7.

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

Polyglutamine (polyQ) diseases are a group of hereditary neurodegenerative disorders caused by expansion of unstable polyQ repeats in their associated disease proteins. To date, the pathogenesis of each disease remains poorly understood, and there are no effective treatments. Growing evidence has indicated that, in addition to neurodegeneration, polyQ-expanded proteins can cause a wide array of abnormalities in peripheral tissues. Read More

Skelet Muscle 2019 Jan 5;9(1). Epub 2019 Jan 5.

Department of Cell Biology and Molecular Genetics, University of Maryland, 2134 Bioscience Research Building, College Park, MD, 20742-5815, USA.

Background: Niemann-Pick disease type A (NPDA), a disease caused by mutations in acid sphingomyelinase (ASM), involves severe neurodegeneration and early death. Intracellular lipid accumulation and plasma membrane alterations are implicated in the pathology. ASM is also linked to the mechanism of plasma membrane repair, so we investigated the impact of ASM deficiency in skeletal muscle, a tissue that undergoes frequent cycles of injury and repair in vivo. Read More

Hum Mol Genet 2019 Jan 4. Epub 2019 Jan 4.

Department of Orthopaedic Surgery, University of Texas Health Science Center at Houston, McGovern Medical School, Houston TX 77030, USA.

Duchenne muscle dystrophy (DMD), characterized by progressive loss of muscle architecture and function, is caused by lack of dystrophin expression in the sarcolemma of myofibers. Recurrent muscle damages in DMD patients and DMD mouse model, mdx, lead to chronic inflammation, which further exacerbate the muscle histopathology. It is critical to find a successful therapy that will improve the histopathology of muscles of DMD patients and restore skeletal muscle function. Read More

Medicine (Baltimore) 2019 Jan;98(1):e13937

Department of Intensive Care Medicine, Inselspital, Bern University Hospital, University of Bern, Switzerland.

Introduction: Intensive care unit-acquired weakness (ICU-AW) is often observed in critically ill patients with prolonged intensive care unit (ICU) stay. We hypothesized that evolving metabolic abnormalities during prolonged ICU stay are reflected by changing nutrient patterns in blood, urine and skeletal muscle, and that these patterns differ in patients with/without ICU-AW and between patients with/without sepsis.

Methods: In a prospective single-center observational trial, we aim to recruit 100 critically ill patients (ICU length of stay ≥ 5 days) with severe sepsis/septic shock ("sepsis group", n = 50) or severe head trauma/intracerebral hemorrhage ("CNS group", n = 50). Read More

Pediatr Emerg Care 2019 Jan;35(1):69-71

We report a case of a patient presenting with fever, right lower leg swelling, and pain who was found to have a fluid collection between muscle planes noted on point-of-care ultrasound. Point-of-care ultrasound raised the clinician's concern for deep musculoskeletal infection, leading to prompt initiation of antibiotics and magnetic resonance imaging. Read More

Int J Clin Oncol 2019 Jan 2. Epub 2019 Jan 2.

Department of Urology, Nara Medical University, 840 Shijo-cho, Kashihara, Nara, 634-8522, Japan.

Objective: The present study evaluated the clinical relevance of an integrative preoperative assessment of inflammation-, nutrition-, and muscle-based markers for patients with upper urinary tract urothelial carcinoma (UTUC) undergoing curative nephroureterectomy (NUx).

Methods: The study enrolled 125 patients and the preoperative variables assessed included age, body mass index, neutrophil-to-lymphocyte ratio (NLR), monocyte-to-lymphocyte ratio (MLR), platelet-to-lymphocyte ratio (PLR), serum fibrinogen level (Fib), C-reactive protein (CRP), modified Glasgow prognostic score, serum albumin level (Alb), prognostic nutritional index (PNI), skeletal muscle index (SMI), psoas muscle index (PMI), and peak expiratory flow (PEF). The correlations among the variables and their prognostic values after NUx were evaluated. Read More

Med Oncol 2019 Jan 2;36(2):15. Epub 2019 Jan 2.

Molecular Gastroenterology and Hepatology, Kyoto Prefectural University of Medicine, 465 Kajiicho Hirokoji Kawaramachi Kamigyo-ku, Kyoto, 602-8566, Japan.

Undernutrition and sarcopenia are associated with a higher incidence of chemotherapy-related toxicity and a poor prognosis in several kinds of cancer, but the impact of sarcopenia on the outcomes of chemotherapy for esophageal cancer remains unclear. Thus, the purpose of this retrospective study was to investigate whether sarcopenia affects the efficacy and toxicities of chemotherapy for advanced esophageal cancer patients. Data were collected from 31 esophageal cancer patients who underwent neo-adjuvant chemotherapy followed by surgery. Read More

Behav Brain Res 2019 May 30;363:199-215. Epub 2018 Dec 30.

Department of Molecular Neurology, University Hospital Erlangen, Friedrich-Alexander University Erlangen-Nürnberg (FAU), 91054 Erlangen, Germany. Electronic address:

Gait and postural control dysfunction are prototypical symptoms compromising quality of life for patients with Parkinson's disease (PD). Hallmarks of cellular pathology are dopaminergic degeneration and accumulation of the cytosolic protein alpha-synuclein, linked to impaired autophagy-lysosome pathway (ALP) clearance. Physical exercise improves gait in PD patients and motor function in rodent lesion models. Read More

Free Radic Biol Med 2018 Dec 28;134:268-281. Epub 2018 Dec 28.

Department of Radiology, University of Washington, Seattle, WA, USA. Electronic address:

Sarcopenia and exercise intolerance are major contributors to reduced quality of life in the elderly for which there are few effective treatments. We tested whether enhancing mitochondrial function and reducing mitochondrial oxidant production with SS-31 (elamipretide) could restore redox balance and improve skeletal muscle function in aged mice. Young (5 mo) and aged (26 mo) female C57BL/6Nia mice were treated for 8-weeks with 3 mg/kg/day SS-31. Read More

J Neuropathol Exp Neurol 2019 Feb;78(2):130-139

Division of Pediatric Pathology, Department of Pathology and Laboratory Medicine.

Mutations in at least 12 genes are responsible for a group of congenital skeletal muscle diseases known as nemaline myopathies (NMs). NMs are associated with a range of clinical symptoms and pathological changes often including the presence of cytoplasmic rod-like structures (nemaline bodies) and myofiber hypotrophy. Our recent work has identified a variable degree of behavioral benefit when treating 2 NM mouse models due to mutations in Acta1 with myostatin inhibition. Read More