52,764 results match your criteria Muscle Biopsy and the Pathology of Skeletal Muscle


The Genetics and Epigenetics of Facioscapulohumeral Muscular Dystrophy.

Annu Rev Genomics Hum Genet 2019 Apr 24. Epub 2019 Apr 24.

Department of Pharmacology, School of Medicine, University of Nevada, Reno, Nevada 89557, USA; email:

Facioscapulohumeral muscular dystrophy (FSHD), a progressive myopathy that afflicts individuals of all ages, provides a powerful model of the complex interplay between genetic and epigenetic mechanisms of chromatin regulation. FSHD is caused by dysregulation of a macrosatellite repeat, either by contraction of the repeat or by mutations in silencing proteins. Both cases lead to chromatin relaxation and, in the context of a permissive allele, aberrant expression of the gene in skeletal muscle. Read More

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https://www.annualreviews.org/doi/10.1146/annurev-genom-0831
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http://dx.doi.org/10.1146/annurev-genom-083118-014933DOI Listing
April 2019
1 Read

Autophagy, Apoptosis, and Mitochondria: Molecular Integration and Physiological Relevance in Skeletal Muscle.

Am J Physiol Cell Physiol 2019 Apr 24. Epub 2019 Apr 24.

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

Apoptosis and autophagy are processes resulting from the integration of cellular stress and death signals. Their individual importance is highlighted by the lethality of various mouse models missing apoptosis or autophagy related genes. In addition to their independent roles, significant overlap exists with respect to the signals which stimulate these processes as well as their effector consequences. Read More

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http://dx.doi.org/10.1152/ajpcell.00261.2018DOI Listing

Stem Cells Heterogeneity.

Adv Exp Med Biol 2019 ;1123:1-3

Department of Pathology, Federal University of Minas Gerais, Belo Horizonte, Minas Gerais, Brazil.

Adult endogenous stem cells are crucial to maintain organ homeostasis due to their particular capacity to originate more specialized cell populations in a coordinated manner based on the body necessity. Extensive studies in a variety of tissues have highlighted the importance of stem cells for the functioning of our organism, including the skin, intestine, stomach, skeletal muscle, bone marrow, and others. Although significant progress has been made in our understanding of stem cell biology, our knowledge about these cells still remains limited due to their complexity and their dynamics. Read More

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http://dx.doi.org/10.1007/978-3-030-11096-3_1DOI Listing
January 2019

Validation of exercise-response genes in skeletal muscle cells of Thoroughbred racing horses.

Asian-Australas J Anim Sci 2019 Feb 14. Epub 2019 Feb 14.

Department of Pathology, School of Medicine, Institute of Biomedical Science and Technology, Konkuk University, Chungju 27478, Korea.

Objective: To understand the athletic characteristics of Thoroughbreds, high-throughput analysis has been conducted using horse muscle tissue. However, an in vitro system has been lacking for studying and validating genes from in silico data. The aim of this study is to validate genes from differentially expressed genes (DEGs) of our previous RNA-sequencing data in vitro. Read More

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http://dx.doi.org/10.5713/ajas.18.0749DOI Listing
February 2019

Postnatal Development of Mice with Combined Genetic Depletions of Lamin A/C, Emerin and Lamina-associated Polypeptide 1.

Hum Mol Genet 2019 Apr 22. Epub 2019 Apr 22.

Department of Medicine.

Mutations in LMNA encoding lamin A/C and EMD encoding emerin cause cardiomyopathy and muscular dystrophy. Lmna null mice develop these disorders and have a lifespan of 7-8 weeks. Emd null mice show no overt pathology and have normal skeletal muscle but with regeneration defects. Read More

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http://fdslive.oup.com/www.oup.com/pdf/production_in_progres
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http://dx.doi.org/10.1093/hmg/ddz082DOI Listing
April 2019
2 Reads

Osteopontin-derived synthetic peptide SVVYGLR has potent utility in the functional regeneration of oral and maxillofacial skeletal muscles.

Peptides 2019 Apr 17. Epub 2019 Apr 17.

The 1st Department of Oral and Maxillofacial Surgery, Graduate School of Dentistry, Osaka University, 1-8 Yamada-oka, Suita, Osaka, 565-0871, Japan. Electronic address:

Oral and maxillofacial skeletal muscles are critical for oral motor functions, and severe damage to these muscles by trauma or surgery may lead to persistent functional impairment. This study investigated the effects of SVVYGLR (SV) peptide, a thrombin-cleaved osteopontin-derived motif, on histopathological wound healing and functional repair after severe injury of skeletal muscles. A rat model of volumetric muscle loss bilateral masseter muscle was developed. Read More

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http://dx.doi.org/10.1016/j.peptides.2019.04.013DOI Listing

First detection of Erysipelothrix sp. infection in western mosquitofish Gambusia affinis inhabiting catfish aquaculture ponds in Mississippi, USA.

Dis Aquat Organ 2019 Feb;133(1):39-46

Department of Pathology, College of Veterinary Medicine, University of Georgia, 501 D.W. Brooks Drive, Athens, GA 30602, USA.

Native and introduced fish can serve as reservoirs for pathogens of cultured fish species. In the current study, 351 archived western mosquitofish Gambusia affinis collected from experimental catfish production ponds in Mississippi, USA, were surveyed histologically to evaluate their potential as vectors for fish pathogens. In addition to epitheliocystis and multiple metazoan parasites, 8 fish had widespread basophilic colonies of small Gram-positive rods associated primarily with stroma supporting the skeletal muscle and bone, as well as connective tissue components of other tissues and organ systems, such as perivascular adventitia and basement membranes. Read More

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http://dx.doi.org/10.3354/dao03332DOI Listing
February 2019

MBNL1 overexpression is not sufficient to rescue the phenotypes in a mouse model of RNA toxicity.

Hum Mol Genet 2019 Apr 1. Epub 2019 Apr 1.

Department of Pathology, University of Virginia, Charlottesville, VA, USA.

Myotonic dystrophy type 1 (DM1) is caused by an expanded (CTG)n tract in the 3'UTR of the DM protein kinase (DMPK) gene. The RNA transcripts produced from the expanded allele sequester or alter the function of RNA-binding proteins (MBNL1, CUGBP1, etc.). Read More

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http://dx.doi.org/10.1093/hmg/ddz065DOI Listing
April 2019
6.393 Impact Factor

Differential YAP nuclear signaling in healthy and dystrophic skeletal muscle.

Am J Physiol Cell Physiol 2019 Apr 17. Epub 2019 Apr 17.

Departments of Orthopaedics and Physiology, University of Maryland School of Medicine, United States.

Mechanical forces regulate muscle development, hypertrophy, and homeostasis. Force-transmitting structures allow mechanotransduction at the sarcolemma, cytoskeleton, and nuclear envelope. There is growing evidence that YAP (Yes-associated protein) serves as a nuclear relay of mechanical signals and can induce a range of downstream signaling cascades. Read More

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https://www.physiology.org/doi/10.1152/ajpcell.00432.2018
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http://dx.doi.org/10.1152/ajpcell.00432.2018DOI Listing
April 2019
4 Reads

Upper extremity myxofibrosarcoma mimicking an erosive inflammatory arthritis: a case report.

Skeletal Radiol 2019 Apr 15. Epub 2019 Apr 15.

Imaging Institute, Cleveland Clinic, 9500 Euclid Ave. A21, Cleveland, OH, 44195, USA.

Myxofibrosarcoma is a malignant fibroblastic soft tissue neoplasm containing a variable amount of myxoid stroma that commonly presents as a slow-growing mass in elderly patients. The neoplasm may be superficial or deep to the muscle fascia and characteristically has an infiltrative growth pattern with a dominant or multinodular mass. We describe an unusual case of high-grade myxofibrosarcoma of the wrist and forearm that infiltrated the muscles, tendons, and wrist joint, causing bone erosions. Read More

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http://link.springer.com/10.1007/s00256-019-03217-w
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http://dx.doi.org/10.1007/s00256-019-03217-wDOI Listing
April 2019
2 Reads

ACTA1-myopathy with prominent finger flexor weakness and rimmed vacuoles.

Neuromuscul Disord 2019 Mar 2. Epub 2019 Mar 2.

Department of Neurology, Mayo Clinic, 200 First Street SW, Rochester, MN 55905, USA. Electronic address:

Actinopathy is a group of clinically and pathologically heterogeneous myopathies due to mutations in the skeletal muscle sarcomeric α-actin 1-encoding gene (ACTA1). Disease-onset spans from prenatal life to adulthood and weakness can preferentially affect proximal or distal muscles. Myopathological findings include a spectrum of structural abnormalities with nemaline rods being the most common. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S09608966183127
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http://dx.doi.org/10.1016/j.nmd.2019.02.012DOI Listing
March 2019
3 Reads

Interstitial Adipocytes in the Beagle Dog and New Zealand White Rabbit Choroid Plexus.

Toxicol Pathol 2019 Apr 15:192623319839916. Epub 2019 Apr 15.

2 Regeneron Pharmaceuticals, Inc. Tarrytown, NY, USA.

The choroid plexus (CP) produces cerebrospinal fluid and has epithelial, interstitial, and vascular compartments. The CP is a potential site of toxicity, and recognizing the normal microanatomy in different animal models is important for the pathologist. In preclinical studies with beagle dog and New Zealand white rabbits, we observed variable numbers of adipocytes in the CP interstitium of control and xenobiotic-treated animals. Read More

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http://dx.doi.org/10.1177/0192623319839916DOI Listing
April 2019
1 Read

Dysregulation of NRAP degradation by KLHL41 contributes to pathophysiology in Nemaline Myopathy.

Hum Mol Genet 2019 Apr 15. Epub 2019 Apr 15.

Division of Genetics, Brigham and Women's Hospital, Harvard Medical School, Boston, MA-02115.

Nemaline myopathy (NM) is the most common form of congenital myopathy that results in hypotonia and muscle weakness. This disease is clinically and genetically heterogeneous, but three recently discovered genes in NM encode for members of the Kelch family of proteins. Kelch proteins act as substrate-specific-adapters for CUL3 E3 ubiquitin ligase to regulate protein turn-over through the ubiquitin-proteasome machinery. Read More

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https://academic.oup.com/hmg/advance-article/doi/10.1093/hmg
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http://dx.doi.org/10.1093/hmg/ddz078DOI Listing
April 2019
1 Read

Primary malignant mesothelioma of the diaphragm with liver invasion: A case report and review of literature.

Medicine (Baltimore) 2019 Apr;98(15):e15147

Department of Pathology, The First Hospital and College of Basic Medical Sciences, China Medical University, Shenyang, Liaoning Province, China.

Rationale: Malignant mesothelioma is a malignant tumor with poor prognosis, which usually originates in the pleura, peritoneum, and pericardial cavity. Mesotheliomas that originate from the diaphragm are very rare. Here, we report a case of primary malignant mesothelioma of the diaphragm with liver invasion. Read More

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http://dx.doi.org/10.1097/MD.0000000000015147DOI Listing
April 2019
1 Read

Mutations in actin, which are equivalent to human cardiomyopathy mutations, cause abnormal actin aggregation in nematode striated muscle.

F1000Res 2019 12;8:279. Epub 2019 Mar 12.

Department of Pathology, Emory University, Atlanta, Georgia, 30322, USA.

Actin is a central component of muscle contractile apparatuses, and a number of actin mutations cause diseases in skeletal, cardiac, and smooth muscles. However, many pathogenic actin mutations have not been characterized at cell biological and physiological levels. In this study, we tested whether the nematode could be used to characterize properties of actin mutants in muscle cells . Read More

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http://dx.doi.org/10.12688/f1000research.18476.1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6446495PMC
March 2019
1 Read

YY1 regulates skeletal muscle regeneration through controlling metabolic reprogramming of satellite cells.

EMBO J 2019 Apr 12. Epub 2019 Apr 12.

Department of Orthopedics and Traumatology, Li Ka Shing Institute of Health Sciences, Chinese University of Hong Kong, Hong Kong, China

Skeletal muscle satellite cells (SCs) are adult muscle stem cells responsible for muscle regeneration after acute or chronic injuries. The lineage progression of quiescent SC toward activation, proliferation, and differentiation during the regeneration is orchestrated by cascades of transcription factors (TFs). Here, we elucidate the function of TF Yin Yang1 (YY1) in muscle regeneration. Read More

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http://dx.doi.org/10.15252/embj.201899727DOI Listing
April 2019
1 Read
10.434 Impact Factor

Rhabdomyosarcoma and Wilms tumors contain a subpopulation of noggin producing, myogenic cells immunoreactive for lens beaded filament proteins.

PLoS One 2019 11;14(4):e0214758. Epub 2019 Apr 11.

Philadelphia College of Osteopathic Medicine, Philadelphia, PA, United States of America.

Myo/Nog cells are identified by their expression of the skeletal muscle specific transcription factor MyoD and the bone morphogenetic protein inhibitor noggin, and binding of the G8 monoclonal antibody. Their release of noggin is critical for morphogenesis and skeletal myogenesis. In the adult, Myo/Nog cells are present in normal tissues, wounds and skin tumors. Read More

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0214758PLOS
April 2019
3 Reads
3.234 Impact Factor

Selective sexual dimorphism in musculoskeletal-cardiopulmonary pathologies and mortality in the TNF-transgenic mouse model of rheumatoid arthritis.

Arthritis Rheumatol 2019 Apr 10. Epub 2019 Apr 10.

University of Rochester Medical Center, Pediatrics, 601 Elmwood Ave Box 777, Rochester, New York, 14642, United States.

Objective: To examine and quantify the sexual dimorphism in musculoskeletal and cardiopulmonary pathologies in the TNF-Tg (Tg3647) mouse model of inflammatory-erosive arthritis.

Methods: Kaplan-Meier estimates of male and female Tg3647 and WT littermates were determined. Longitudinal and cross-sectional outcomes of musculoskeletal and cardiopulmonary pathologies were assessed via ultrasound, μCT, grip strength, histology, serology, flow cytometry and skeletal muscle physiology. Read More

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https://onlinelibrary.wiley.com/doi/abs/10.1002/art.40903
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http://dx.doi.org/10.1002/art.40903DOI Listing
April 2019
2 Reads

Molecular and cellular adaptations to exercise training in skeletal muscle from cancer patients treated with chemotherapy.

J Cancer Res Clin Oncol 2019 Apr 9. Epub 2019 Apr 9.

Research Laboratory for Biochemical Pathology, Department of Clinical Medicine, HEALTH, Aarhus University Hospital, Palle Juul-Jensen Blvd., 8200, Aarhus N, Denmark.

Background: A growing body of evidence suggests that exercise training has beneficial effects in cancer patients. The aim of the present study was to investigate the molecular basis underlying these beneficial effects in skeletal muscle from cancer patients.

Methods: We investigated expression of selected proteins involved in cellular processes known to orchestrate adaptation to exercise training by western blot. Read More

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http://dx.doi.org/10.1007/s00432-019-02911-5DOI Listing
April 2019
4 Reads

Aging impairs mouse skeletal muscle macrophage polarization and muscle-specific abundance during recovery from disuse.

Am J Physiol Endocrinol Metab 2019 Apr 9. Epub 2019 Apr 9.

Department of Physical Therapy and Athletic Training, University of Utah, 520 Wakara Way, Salt Lake City, Utah, 84018. Department of Nutrition and Integrative Physiology, University of Utah, 250 S. 1850 E, RM 214 Salt Lake City, Utah, 84112. Department of Pathology, University of Utah, 15 North Medical Drive East, Ste. #1100 - Salt Lake City, Utah 84112, United States.

Impaired recovery of aged muscle following a disuse event is unresolved issue facing the older adult population. Although investigations in young animals has suggested that rapid regrowth of skeletal muscle following a disuse event involves a coordinated involvement of skeletal muscle macrophages, this phenomenon has not yet been thoroughly tested as an explaination for impaired muscle recovery in aging. To examine this hypothesis, young (3 month) and old (24-26 month) malemice were examined as controls, following 2 weeks of hindlimb unloading (HU) and following 4 (RL4)and 7 (RL7)days of reloading after HU. Read More

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http://dx.doi.org/10.1152/ajpendo.00422.2018DOI Listing

Specific inhibition of splicing factor activity by decoy RNA oligonucleotides.

Nat Commun 2019 04 8;10(1):1590. Epub 2019 Apr 8.

Department of Biochemistry and Molecular Biology, Institute for Medical Research Israel-Canada, Hebrew University-Hadassah Medical School, Jerusalem, 9112001, Israel.

Alternative splicing, a fundamental step in gene expression, is deregulated in many diseases. Splicing factors (SFs), which regulate this process, are up- or down regulated or mutated in several diseases including cancer. To date, there are no inhibitors that directly inhibit the activity of SFs. Read More

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http://dx.doi.org/10.1038/s41467-019-09523-0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6453957PMC

CAP2 deficiency delays myofibril actin cytoskeleton differentiation and disturbs skeletal muscle architecture and function.

Proc Natl Acad Sci U S A 2019 Apr 8;116(17):8397-8402. Epub 2019 Apr 8.

Molecular Neurobiology Group, Institute of Physiological Chemistry, University of Marburg, 35032 Marburg, Germany;

Actin filaments (F-actin) are key components of sarcomeres, the basic contractile units of skeletal muscle myofibrils. A crucial step during myofibril differentiation is the sequential exchange of α-actin isoforms from smooth muscle (α-SMA) and cardiac (α-CAA) to skeletal muscle α-actin (α-SKA) that, in mice, occurs during early postnatal life. This "α-actin switch" requires the coordinated activity of actin regulators because it is vital that sarcomere structure and function are maintained during differentiation. Read More

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http://dx.doi.org/10.1073/pnas.1813351116DOI Listing
April 2019
4 Reads

[Ultrastructural and clinical findings of mitochondrial encephalomyopathy:report of 27 cases].

Zhonghua Bing Li Xue Za Zhi 2019 Apr;48(4):298-302

Beijing Neurosurgical Institute, Beijing Tiantan Hospital, Capital Medical University, Beijing 100070, China.

To investigate the ultrastructural features of muscle in patients with mitochondrial encephalomyopathy for its diagnosis and differential diagnosis. The clinical data of 27 mitochondrial encephalomyopathy patients who underwent left or right biceps brachii muscle biopsy at Department of Neurosurgery, Beijing Tiantan Hospital, Capital Medical University from July 2006 to August 2017 were analyzed retrospectively. The muscle biopsy specimens were examined underlight microscope and transmission electron microscope. Read More

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http://dx.doi.org/10.3760/cma.j.issn.0529-5807.2019.04.007DOI Listing
April 2019
3 Reads

Role of the P2X7 receptor in the pathogenesis of type 2 diabetes and its microvascular complications.

Curr Opin Pharmacol 2019 Apr 4;47:75-81. Epub 2019 Apr 4.

Section for Cell Biology and Physiology, Department of Biology, University of Copenhagen, Copenhagen, Denmark. Electronic address:

P2X7 receptors can be found in many tissues and organs, where they mediate several biological functions. This review summarizes the current knowledge about the role of this receptor in the pathogenesis of type 2 diabetes, in which the key clinical features are impaired insulin secretion and sensitivity, hyperglycemia, coexistence of other cardiovascular risk factors such as dyslipidemia and hypertension, and subclinical inflammation. The receptor modulates crucial pathways in the pancreatic islets (where it can either exert a trophic or detrimental action on β cells), and in the liver, in the adipose tissue and in the skeletal muscle, which are main sites of insulin resistance. Read More

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http://dx.doi.org/10.1016/j.coph.2019.02.009DOI Listing
April 2019
1 Read

Educational avenues for promoting dialog on fascia.

Authors:
Rebecca L Pratt

Clin Anat 2019 Apr 5. Epub 2019 Apr 5.

Department of Foundational Medical Studies, Foundational Medical Studies, Oakland University William Beaumont School of Medicine, Rochester, Michigan.

If your healthcare professional students have not heard about the importance of fascia they definitely should, and if your residents have not heard about the manifestations of fascia health they definitely will from their patients. While fascia may not be the sexiest of organ systems, it is one of the most influential. Fascia is gaining interest from researchers, physicians, and many subdivisions of manual medicine including massage therapists. Read More

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https://onlinelibrary.wiley.com/doi/abs/10.1002/ca.23380
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http://dx.doi.org/10.1002/ca.23380DOI Listing
April 2019
7 Reads

Spatiotemporal dynamics of molecular pathology in amyotrophic lateral sclerosis.

Science 2019 04;364(6435):89-93

Center for Genomics of Neurodegenerative Disease, New York Genome Center, New York, NY, USA.

Paralysis occurring in amyotrophic lateral sclerosis (ALS) results from denervation of skeletal muscle as a consequence of motor neuron degeneration. Interactions between motor neurons and glia contribute to motor neuron loss, but the spatiotemporal ordering of molecular events that drive these processes in intact spinal tissue remains poorly understood. Here, we use spatial transcriptomics to obtain gene expression measurements of mouse spinal cords over the course of disease, as well as of postmortem tissue from ALS patients, to characterize the underlying molecular mechanisms in ALS. Read More

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http://www.sciencemag.org/lookup/doi/10.1126/science.aav9776
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http://dx.doi.org/10.1126/science.aav9776DOI Listing
April 2019
6 Reads

Mitochondrial dysfunction in skeletal muscle pathologies.

Curr Protein Pept Sci 2019 Apr 1. Epub 2019 Apr 1.

Laboratory of Muscle Pathology, Fragility and Aging, Departamento de Ciencias Biológicas, Facultad de Ciencias de la Vida, Universidad Andres Bello, Santiago. Chile.

Several molecular mechanisms are involved in the regulation of skeletal muscle function. Among them can be identified mitochondrial activity. The mitochondria is an important and essential organelle in the skeletal muscle that is involved in metabolic regulation and ATP production, which are two key elements of muscle contractibility and plasticity. Read More

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http://dx.doi.org/10.2174/1389203720666190402100902DOI Listing
April 2019
1 Read

Estimating the amount of Chronic Wasting Disease infectivity passing through abattoirs and field slaughter.

Prev Vet Med 2019 May 6;166:28-38. Epub 2019 Mar 6.

Department of Epidemiological Sciences, Animal & Plant Health Agency, Woodham Lane, Weybridge, KT15 3NB, United Kingdom.

Chronic Wasting Disease (CWD) is a highly infectious, naturally occurring, transmissible spongiform encephalopathy (TSE, or prion disease) affecting many cervid species. CWD has been widely circulating in North America since it was first reported in 1967. In 2016, the first European case of prion disease in deer was reported and confirmed in Norway. Read More

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http://dx.doi.org/10.1016/j.prevetmed.2019.02.016DOI Listing
May 2019
4 Reads

Adiponectin-Consideration for its Role in Skeletal Muscle Health.

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

Department of Pathology and Molecular Medicine, Faculty of Health Sciences, McMaster University, 1280 Main Street, Hamilton, ON L8S 4L8, Canada.

Adiponectin regulates metabolism through blood glucose control and fatty acid oxidation, partly mediated by downstream effects of adiponectin signaling in skeletal muscle. More recently, skeletal muscle has been identified as a source of adiponectin expression, fueling interest in the role of adiponectin as both a circulating adipokine and a locally expressed paracrine/autocrine factor. In addition to being metabolically responsive, skeletal muscle functional capacity, calcium handling, growth and maintenance, regenerative capacity, and susceptibility to chronic inflammation are all strongly influenced by adiponectin stimulation. Read More

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http://dx.doi.org/10.3390/ijms20071528DOI Listing
March 2019
1 Read

Natural disease history of the D2 -mdx mouse model for Duchenne muscular dystrophy.

FASEB J 2019 Apr 1:fj201802488R. Epub 2019 Apr 1.

Department of Human Genetics, Leiden University Medical Centre, Leiden, The Netherlands.

The C57BL/10ScSn- Dmd/J (BL10- mdx) mouse has been the most commonly used model for Duchenne muscular dystrophy (DMD) for decades. Their muscle dysfunction and pathology is, however, less severe than in patients with DMD, which complicates preclinical studies. Recent discoveries indicate that disease severity is exacerbated when muscular dystrophy mouse models are generated on a DBA2/J genetic background. Read More

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http://dx.doi.org/10.1096/fj.201802488RDOI Listing
April 2019
2 Reads

Aberrant regulation of epigenetic modifiers contributes to the pathogenesis in patients with selenoprotein N-related myopathies.

Hum Mutat 2019 Apr 1. Epub 2019 Apr 1.

Department of Biomedicine, Basel University Hospital, Basel, Switzerland.

Congenital myopathies are early onset, slowly progressive neuromuscular disorders of variable severity. They are genetically and phenotypically heterogeneous and caused by pathogenic variants in several genes. Multi-minicore Disease, one of the more common congenital myopathies, is frequently caused by recessive variants in either SELENON, encoding the endoplasmic reticulum glycoprotein selenoprotein N or RYR1, encoding a protein involved in calcium homeostasis and excitation-contraction coupling. Read More

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https://onlinelibrary.wiley.com/doi/abs/10.1002/humu.23745
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http://dx.doi.org/10.1002/humu.23745DOI Listing
April 2019
5 Reads

A case of malignant solitary fibrous tumor of the prostatic urethra.

BJR Case Rep 2018 Dec 1;4(4):20180034. Epub 2018 Jun 1.

Department of Urology, Osaka Medical College, Takatsuki, Japan.

A 68-year-old male with dementia presented with gross hematuria. On plain CT, a mass was found at the base of the prostate with intravesical protrusion. On MRI, the mass was well-circumscribed and showed slight hyperintensity compared to the skeletal muscle on  weighted imaging and high intensity on  weighted imaging. Read More

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http://dx.doi.org/10.1259/bjrcr.20180034DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6438398PMC
December 2018
1 Read

High-Load Reovirus Infections Do Not Imply Physiological Impairment in Salmon.

Front Physiol 2019 13;10:114. Epub 2019 Mar 13.

Aquatic Diagnostics and Genomics Division, Pacific Biological Station, Fisheries and Oceans Canada, Nanaimo, BC, Canada.

The recent ubiquitous detection of PRV among salmonids has sparked international concern about the cardiorespiratory performance of infected wild and farmed salmon. Piscine orthoreovirus (PRV) has been shown to create substantial viremia in salmon by targeting erythrocytes for principle replication. In some instances, infections develop into heart and skeletal muscle inflammation (HSMI) or other pathological conditions affecting the respiratory system. Read More

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http://dx.doi.org/10.3389/fphys.2019.00114DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6425399PMC
March 2019
1 Read

Myofibrillar myopathy caused by a novel FHL1 mutation presenting a mild myopathy with ankle contracture.

Clin Neurol Neurosurg 2019 May 19;180:48-51. Epub 2019 Mar 19.

Neurology, Pusan National University Yangsan Hospital, Yangsan, South Korea. Electronic address:

FHL1-related myopathies are clinically heterogeneous, involving skeletal and cardiac muscles. Overlapping clinical features include joint contractures, rigid spine, scapuloperoneal weakness and cardiac diseases. Histopathologically, reducing bodies are the most characteristic finding, but not present in all FHL1-related cases. Read More

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http://dx.doi.org/10.1016/j.clineuro.2019.03.015DOI Listing
May 2019
1 Read

Evaluation of long-term hard tissue remodelling after skeletal class III orthognathic surgery: a systematic review.

Int J Oral Maxillofac Surg 2019 Mar 26. Epub 2019 Mar 26.

OMFS IMPATH Research Group, Department of Imaging and Pathology, Faculty of Medicine, KU Leuven, Leuven, Belgium; Department of Oral and Maxillofacial Surgery, University Hospitals Leuven, Leuven, Belgium; Department of Dental Medicine, Karolinska Institutet, Stockholm, Sweden.

This systematic review was performed to investigate the long-term hard tissue stability in orthognathic surgery patients with skeletal class III malocclusion. A literature search was conducted using the Embase, Cochrane Central, Web of Science, and PubMed databases, yielding 3690 articles published up to June 2018. Nine articles met the inclusion criteria; these reported skeletal changes in 886 patients with between 5 and 12. Read More

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http://dx.doi.org/10.1016/j.ijom.2019.02.022DOI Listing

mTORC1 underlies age-related muscle fiber damage and loss by inducing oxidative stress and catabolism.

Aging Cell 2019 Mar 29:e12943. Epub 2019 Mar 29.

Division of Thoracic Surgery, Department of Cardiothoracic Surgery, Stanford University School of Medicine, Stanford, California.

Aging leads to skeletal muscle atrophy (i.e., sarcopenia), and muscle fiber loss is a critical component of this process. Read More

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http://dx.doi.org/10.1111/acel.12943DOI Listing
March 2019
6.340 Impact Factor

Primary retroperitoneal liposarcoma with extensive ossification: A case report.

Medicine (Baltimore) 2019 Mar;98(13):e14996

Department of Hepatopancreatobiliary Surgery.

Rationale: Primary retroperitoneal liposarcoma, which originates from mesenchymal tissues, can rarely present with extensive ossification.

Patient Concerns: A 41-year-old male patient presented with a chief complaint of discomfort around the waist for 2 months.

Diagnoses: Computerized tomography (CT) and magnetic resonance imaging suggested a lesion of approximately 5. Read More

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http://dx.doi.org/10.1097/MD.0000000000014996DOI Listing

Treatment for upper esophageal sphincter dysfunction in a patient with poststroke dysphagia: A case report.

Medicine (Baltimore) 2019 Mar;98(13):e14988

Rationale: Botulinum toxin injection is a widely used procedure for the treatment of the dysfunction of the upper esophageal sphincter (UES). Although the injection can be guided by ultrasound, electromyography, or computed tomography, such techniques cannot determine the exact extent of narrowed UES and ensure that the narrowed extent is fully covered by the treatment. This report describes a dual guiding technique with ultrasound and the balloon catheter in a patient with poststroke dysphagia to improve these weaknesses. Read More

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http://dx.doi.org/10.1097/MD.0000000000014988DOI Listing
March 2019
2 Reads

Posterior occipital intramuscular hemangioma mimicking arteriovenous malformation: Case report.

Medicine (Baltimore) 2019 Mar;98(13):e14678

Department of Neurosurgery, The First Hospital of Jilin University, Changchun, China.

Rationale: Intermuscular hemangioma (IH) usually occurs in the muscles of the limbs and trunk, but can rarely occur in the occipital region. IH in the occipital region is easily misdiagnosed as arteriovenous malformation (AVM).

Patient Concerns: A 31-year-old woman had a right occipital mass for 5 months without pulsation. Read More

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http://dx.doi.org/10.1097/MD.0000000000014678DOI Listing
March 2019
2 Reads

The influence of kinesiotaping on the loosening of the laryngeal muscles in hyperfunctional dysphones.

Otolaryngol Pol 2018 Dec;73(2):6-10

Światowe Centrum Słuchu Instytutu Fizjologii i Patologii Słuchu.

Introduction: Hyperfunctional dysfunction is one of the most common functional dysphonia, cha-racterized by voice insufficiency with excessive tightening of the muscles inside and outside the larynx during phonation. To make the treatment process more effective, new ways of rehabilitation are constantly being sought and developed. The aim of this work is to evaluate the effectiveness of laryngotaping - an innovative method of taping around the larynx and neck muscles. Read More

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http://dx.doi.org/10.5604/01.3001.0012.7890DOI Listing
December 2018

Regulation of Skeletal Muscle DRP-1 and FIS-1 Protein Expression by IL-6 Signaling.

Oxid Med Cell Longev 2019 21;2019:8908457. Epub 2019 Feb 21.

College of Health Professions, Department of Physical Therapy, University of Tennessee Health Sciences Center, Memphis, TN 38163, USA.

IL-6 signals through the ubiquitously expressed glycoprotein 130 (gp130) transmembrane protein to activate intracellular signaling that includes signal transducer and activator of transcription 3 (STAT3) and extracellular signal-regulated kinase 1/2 (ERK1/2). Dynamin-1-like protein (DRP-1) and mitochondrial fission 1 protein (FIS-1) are key proteins in the process of mitochondrial fission and have emerged as IL-6-sensitive targets. The purpose of this study was to examine the regulation of DRP-1 and FIS-1 expression by IL-6 and gp130 signaling in myotubes and skeletal muscle. Read More

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http://dx.doi.org/10.1155/2019/8908457DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6408992PMC

Myoglobinopathy is an adult-onset autosomal dominant myopathy with characteristic sarcoplasmic inclusions.

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

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

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

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http://dx.doi.org/10.1038/s41467-019-09111-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6437160PMC
March 2019
3 Reads

Neuromuscular Plasticity in a Mouse Neurotoxic Model of Spinal Motoneuronal Loss.

Int J Mol Sci 2019 Mar 26;20(6). Epub 2019 Mar 26.

Laboratory of Cellular and Molecular Physiology, Department of Biomedical and Biotechnological Sciences, Section of Physiology, University of Catania, Catania 95123, Italy.

Despite the relevant research efforts, the causes of amyotrophic lateral sclerosis (ALS) are still unknown and no effective cure is available. Many authors suggest that ALS is a multi-system disease caused by a network failure instead of a cell-autonomous pathology restricted to motoneurons. Although motoneuronal loss is the critical hallmark of ALS given their specific vulnerability, other cell populations, including muscle and glial cells, are involved in disease onset and progression, but unraveling their specific role and crosstalk requires further investigation. Read More

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http://dx.doi.org/10.3390/ijms20061500DOI Listing
March 2019
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Permeabilised skeletal muscle reveals mitochondrial deficiency in malignant hyperthermia-susceptible individuals.

Br J Anaesth 2019 May 20;122(5):613-621. Epub 2019 Mar 20.

Leeds Institute of Medical Research at St. James's, University of Leeds, Leeds, UK.

Background: Individuals genetically susceptible to malignant hyperthermia (MH) exhibit hypermetabolic reactions when exposed to volatile anaesthetics. Mitochondrial dysfunction has previously been associated with the MH-susceptible (MHS) phenotype in animal models, but evidence of this in human MH is limited.

Methods: We used high resolution respirometry to compare oxygen consumption rates (oxygen flux) between permeabilised human MHS and MH-negative (MHN) skeletal muscle fibres with or without prior exposure to halothane. Read More

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http://dx.doi.org/10.1016/j.bja.2019.02.010DOI Listing

Interobserver Variability in the Histopathologic Assessment of Extrathyroidal Extension of Well Differentiated Thyroid Carcinoma Supports the New AJCC 8th Edition Criteria for Tumor Staging.

Thyroid 2019 Mar 27. Epub 2019 Mar 27.

H. Lee Moffitt Cancer Center and Research Institute, Anatomic Pathology, Tampa, Florida, United States ;

Background: Extrathyroidal extension (ETE) by papillary and follicular thyroid carcinoma (PTC / FTC) can be associated with increased risk of tumor recurrence and mortality. In the 7th edition of its Cancer Staging Manual, the American Joint Committee on Cancer (AJCC) defined minimal ETE as involvement of skeletal muscle (i.e. Read More

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http://dx.doi.org/10.1089/thy.2018.0286DOI Listing

Volumetric versus single slice measurements of core abdominal muscle for sarcopenia.

Br J Radiol 2019 May 9;92(1097):20180434. Epub 2019 Apr 9.

1 Leeds Vascular Institute, Leeds General Infirmary , Leeds , UK.

Objective: We investigated whether total psoas muscle area (TPMA) was representative of the total psoas muscle volume (TPMV). Secondly, we assessed whether there was a relationship between the two commonly used single slice measurements of sarcopenia, TPMA and total abdominal muscle area (TAMA).

Methods: Pre-operative CT imaging of 110 patients undergoing elective endovascular aneurysm repair were analyzed by two trained independent observers. Read More

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http://dx.doi.org/10.1259/bjr.20180434DOI Listing
May 2019
3 Reads
1.533 Impact Factor

Impairment on Cardiopulmonary Function after Marathon: Role of Exhaled Nitric Oxide.

Oxid Med Cell Longev 2019 17;2019:5134360. Epub 2019 Feb 17.

Post Graduation Program in Bioengenering and in Biomedical Engineering, Universidade Brasil, São Paulo, Brazil.

Background: The endurance exercise is capable of inducing skeletal muscle, heart, and respiratory fatigue, evidenced by morphofunctional cardiac changes, release of myocardial injury biomarkers, and reduction of maximal voluntary ventilation and oxygen consumption (VO) at peak exercise.

Purpose: The aim of this study was to investigate whether marathoners present cardiac fatigue after marathon and whether it correlates with pulmonary levels of exhaled nitric oxide (eNO) and pulmonary inflammation.

Methods: 31 male marathoners, age 39 ± 9 years, were evaluated by cardiopulmonary exercise test three weeks before and between three and 15 days after a marathon; eNO analysis and spirometry were evaluated before, immediately after, and 24 and 72 hours after the marathon, and sputum cellularity and cytokine level were assessed before and after the marathon. Read More

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http://dx.doi.org/10.1155/2019/5134360DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6398013PMC
April 2019
2 Reads

ZEB1 protects skeletal muscle from damage and is required for its regeneration.

Nat Commun 2019 03 25;10(1):1364. Epub 2019 Mar 25.

Group of Transcriptional Regulation of Gene Expression, Department of Oncology and Hematology, IDIBAPS, 08036, Barcelona, Spain.

The mechanisms linking muscle injury and regeneration are not fully understood. Here we report an unexpected role for ZEB1 regulating inflammatory and repair responses in dystrophic and acutely injured muscles. ZEB1 is upregulated in the undamaged and regenerating myofibers of injured muscles. Read More

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http://www.nature.com/articles/s41467-019-08983-8
Publisher Site
http://dx.doi.org/10.1038/s41467-019-08983-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6434033PMC
March 2019
4 Reads

Compromised Exercise Capacity and Mitochondrial Dysfunction in the Osteogenesis Imperfecta Murine (oim) Mouse Model.

J Bone Miner Res 2019 Mar 25. Epub 2019 Mar 25.

Department of Biochemistry, University of Missouri, Columbia, Missouri.

Osteogenesis imperfecta (OI) is a heritable connective tissue disorder that most often arises from type I collagen, COL1A1 and COL1A2, gene defects leading to skeletal fragility, short stature, blue-gray sclera, and muscle weakness. Relative to the skeletal fragility, muscle weakness is much less understood. Recent investigations into OI muscle weakness in both patients and mouse models have revealed the presence of an inherent muscle pathology. Read More

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http://dx.doi.org/10.1002/jbmr.3732DOI Listing
March 2019
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FXR1 expression domain in Wilms tumor.

J Pediatr Surg 2019 Feb 28. Epub 2019 Feb 28.

Vanderbilt University Medical Center, Department of Pediatric Surgery, Nashville, TN.

Background/purpose: Wilms tumor (WT) is the most common childhood kidney cancer globally. Our prior unbiased proteomic screen of WT disparities revealed increased expression of Fragile X-Related 1 (FXR1) in Kenyan specimens where survival is dismal. FXR1 is an RNA-binding protein that associates with poor outcomes in multiple adult cancers. Read More

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http://dx.doi.org/10.1016/j.jpedsurg.2019.02.030DOI Listing
February 2019
1 Read