61,072 results match your criteria Muscle Biopsy and the Pathology of Skeletal Muscle

TREM2 R47H variant causes distinct age- and sex-dependent musculoskeletal alterations in mice.

J Bone Miner Res 2022 May 16. Epub 2022 May 16.

Department of Anatomy, Cell Biology & Physiology, Indiana University School of Medicine.

Previous studies proposed the Triggering Receptor Expressed on Myeloid Cells 2 (TREM2), a receptor expressed in myeloid cells including microglia in brain and osteoclasts in bone, as a link between brain and bone disease. The TREM2 R47H variant is a known risk factor for Alzheimer's disease (AD), the most common form of dementia. To investigate whether altered TREM2 signaling could contribute to bone and skeletal muscle loss, independently of central nervous system defects, we used mice globally hemizygous for the TREM2 R47H variant (TREM2 ), which do not exhibit AD pathology, and wild type (WT) littermate control mice. Read More

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Knee Osteoarthritis: Kinesiophobia and Isometric Strength of Quadriceps in Women.

Pain Res Manag 2022 5;2022:1466478. Epub 2022 May 5.

Departamento de Fisioterapia, Universidade Federal de Sergipe, Campus São Cristovão, São Cristóvão, Sergipe, Brazil.

Introduction: Osteoarthritis is a disease characterized by progressive wear and tear of the joint, with the knee being the most affected region. These patients have reduced mobility and mobility, among other symptoms. Thus, it is necessary to know the variables that influence the ability to walk. Read More

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Exo-erythrocytic development of Plasmodium matutinum (lineage pLINN1) in a naturally infected roadkill fieldfare Turdus pilaris.

Malar J 2022 May 15;21(1):148. Epub 2022 May 15.

Nature Research Centre, Akademijos 2, 08412, Vilnius, Lithuania.

Background: Species of Plasmodium (Haemosporida, Plasmodiidae) are remarkably diverse haemoparasites. Information on genetic diversity of avian malaria pathogens has been accumulating rapidly, however exo-erythrocytic development of these organisms remains insufficiently addressed. This is unfortunate because, contrary to Plasmodium species parasitizing mammals, the avian malaria parasites undergo several cycles of exo-erythrocytic development, often resulting in damage of various organs. Read More

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Slow motor neurons resist pathological TDP-43 and mediate motor recovery in the rNLS8 model of amyotrophic lateral sclerosis.

Acta Neuropathol Commun 2022 May 14;10(1):75. Epub 2022 May 14.

Center for Neurodegenerative Disease Research, Perelman School of Medicine, University of Pennsylvania, Maloney Building, 3rd Floor, 3600 Spruce Street, Philadelphia, PA, 19104-2676, USA.

In the intermediate stages of amyotrophic lateral sclerosis (ALS), surviving motor neurons (MNs) that show intrinsic resistance to TDP-43 proteinopathy can partially compensate for the loss of their more disease-susceptible counterparts. Elucidating the mechanisms of this compensation may reveal approaches for attenuating motor impairment in ALS patients. In the rNLS8 mouse model of ALS-like pathology driven by doxycycline-regulated neuronal expression of human TDP-43 lacking a nuclear localization signal (hTDP-43ΔNLS), slow MNs are more resistant to disease than fast-fatigable (FF) MNs and can mediate recovery following transgene suppression. Read More

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Combined Treatment with PI3K Inhibitors BYL-719 and CAL-101 Is a Promising Antiproliferative Strategy in Human Rhabdomyosarcoma Cells.

Molecules 2022 Apr 24;27(9). Epub 2022 Apr 24.

Dipartimento di Scienze Biomediche e Neuromotorie (DIBINEM), Università di Bologna, 40138 Bologna, Italy.

Rhabdomyosarcoma (RMS) is a highly malignant and metastatic pediatric cancer arising from skeletal muscle myogenic progenitors. Recent studies have shown an important role for AKT signaling in RMS progression. Aberrant activation of the PI3K/AKT axis is one of the most frequent events occurring in human cancers and serves to disconnect the control of cell growth, survival, and metabolism from exogenous growth stimuli. Read More

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Factors Regulating or Regulated by Myogenic Regulatory Factors in Skeletal Muscle Stem Cells.

Cells 2022 Apr 29;11(9). Epub 2022 Apr 29.

Division of Molecular Signaling and Biochemistry, Department of Health Improvement, Kyushu Dental University, Kitakyushu 803-8580, Japan.

MyoD, Myf5, myogenin, and MRF4 (also known as Myf6 or herculin) are myogenic regulatory factors (MRFs). MRFs are regarded as master transcription factors that are upregulated during myogenesis and influence stem cells to differentiate into myogenic lineage cells. In this review, we summarize MRFs, their regulatory factors, such as TLE3, NF-κB, and MRF target genes, including non-myogenic genes such as taste receptors. Read More

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Depletion of γδ T Cells Leads to Reduced Angiogenesis and Increased Infiltration of Inflammatory M1-like Macrophages in Ischemic Muscle Tissue.

Cells 2022 Apr 29;11(9). Epub 2022 Apr 29.

Walter-Brendel-Centre of Experimental Medicine, University Hospital, Ludwig-Maximilians-Universität München, 81377 Munich, Germany.

γδ T cells, a small subset of T cells in blood, play a substantial role in influencing immunoregulatory and inflammatory processes. The functional impact of γδ T cells on angiogenesis in ischemic muscle tissue has never been reported and is the topic of the present work. Femoral artery ligation (FAL) was used to induce angiogenesis in the lower leg of γδ T cell depleted mice and wildtype and isotype antibody-treated control groups. Read More

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Reduced Sarcolemmal Membrane Repair Exacerbates Striated Muscle Pathology in a Mouse Model of Duchenne Muscular Dystrophy.

Cells 2022 Apr 22;11(9). Epub 2022 Apr 22.

Department of Physiology and Cell Biology, Davis Heart and Lung Research Institute, The Ohio State University, Columbus, OH 43210, USA.

Duchenne muscular dystrophy (DMD) is a common X-linked degenerative muscle disorder that involves mutations in the DMD gene that frequently reduce the expression of the dystrophin protein, compromising the structural integrity of the sarcolemmal membrane and leaving it vulnerable to injury during cycles of muscle contraction and relaxation. This results in an increased frequency of sarcolemma disruptions that can compromise the barrier function of the membrane and lead to death of the myocyte. Sarcolemmal membrane repair processes can potentially compensate for increased membrane disruptions in DMD myocytes. Read More

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Physiactisome: A New Nanovesicle Drug Containing Heat Shock Protein 60 for Treating Muscle Wasting and Cachexia.

Cells 2022 Apr 21;11(9). Epub 2022 Apr 21.

Department of Biomedicine, Neuroscience and Advanced Diagnostics, University of Palermo, 90127 Palermo, Italy.

Currently, no commercially available drugs have the ability to reverse cachexia or counteract muscle wasting and the loss of lean mass. Here, we report the methodology used to develop Physiactisome-a conditioned medium released by heat shock protein 60 (Hsp60)-overexpressing C2C12 cell lines enriched with small and large extracellular vesicles. We also present evidence supporting its use in the treatment of cachexia. Read More

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Selected Methods of Resistance Training for Prevention and Treatment of Sarcopenia.

Tomohiro Yasuda

Cells 2022 Apr 20;11(9). Epub 2022 Apr 20.

School of Nursing, Seirei Christopher University, Hamamatsu, Shizuoka 433-8558, Japan.

Resistance training is an extremely beneficial intervention to prevent and treat sarcopenia. In general, traditional high-load resistance training improves skeletal muscle morphology and strength, but this method is impractical and may even reduce arterial compliance by about 20% in aged adults. Thus, the progression of resistance training methods for improving the strength and morphology of muscles without applying a high load is essential. Read More

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High-Fat Diet Impairs Muscle Function and Increases the Risk of Environmental Heatstroke in Mice.

Int J Mol Sci 2022 May 9;23(9). Epub 2022 May 9.

CAST, Center for Advanced Studies and Technology, University G. D'Annunzio of Chieti-Pescara, 66100 Chieti, Italy.

Environmental heat-stroke (HS) is a life-threatening response often triggered by hot and humid weather. Several lines of evidence indicate that HS is caused by excessive heat production in skeletal muscle, which in turn is the result of abnormal Ca leak from the sarcoplasmic reticulum (SR) and excessive production of oxidative species of oxygen and nitrogen. As a high fat diet is known to increase oxidative stress, the objective of the present study was to investigate the effects of 3 months of high-fat diet (HFD) on the HS susceptibility of wild type (WT) mice. Read More

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Genetics and muscle pathology in the diagnosis of muscular dystrophies: An update.

Indian J Pathol Microbiol 2022 May;65(Supplement):S259-S270

Department of Medical Genetics, Nizam's Institute of Medical Sciences, Punjagutta, Hyderabad, Telangana, India.

Muscular dystrophies are a clinically and genetically heterogeneous group of disorders involving the skeletal muscles. They have a progressive clinical course and are characterized by muscle fiber degeneration. Congenital muscular dystrophies (CMD) include dystroglycanopathies, merosin-deficient CMD, collagen VI-deficient CMD, SELENON-related rigid spine muscular dystrophy, and LMNA-related CMD. Read More

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Basic requirements to establish a neuromuscular laboratory.

Indian J Pathol Microbiol 2022 May;65(Supplement):S233-S240

Department of Neuropathology, NIMHANS, Bangalore, Karnataka, India.

Histopathological analysis of muscle biopsy is a prerequisite in the evaluation of neuromuscular disorders, particularly inflammatory myopathies, metabolic myopathies, congenital myopathies, muscular dystrophies and differentiating myopathies and neurogenic disorders with overlapping clinically features. It not only provides useful information that helps in the diagnosis but also treatment and management. Fundamental skills and basic knowledge regarding handling, processing and analyzing a muscle biopsy are required in any specialized or a general pathology lab supporting neuromuscular clinical services. Read More

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Intraosseous rhabdomyosarcoma of the maxilla with TFCP2 fusion: A rare aggressive subtype with predilection for the gnathic bones.

Oral Oncol 2022 May 10;130:105876. Epub 2022 May 10.

Department of Dentistry, University of Fortaleza (UNIFOR), Fortaleza, Brazil. Electronic address:

Rhabdomyosarcomas (RMS) are malignant tumors with skeletal muscle differentiation extremely rare in intraosseous sites. We reported a rare case of an aggressive intraosseous RMS found in the maxilla of a 17-year-old female patient with five months of evolution. Computed tomography revealed a large osteolytic lesion extending from tooth 21 to 27, causing buccal and lingual cortical plate perforation. Read More

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Age Related Changes in Muscle Mass and Force Generation in the Triple Transgenic (3xTgAD) Mouse Model of Alzheimer's Disease.

Front Aging Neurosci 2022 25;14:876816. Epub 2022 Apr 25.

Aging & Metabolism Research Program, Oklahoma Medical Research Foundation, Oklahoma City, OK, United States.

Emerging evidence suggests that patients with Alzheimer's disease (AD) may show accelerated sarcopenia phenotypes. To investigate whether pathological changes associated with neuronal death and cognitive dysfunction also occur in peripheral motor neurons and muscle as a function of age, we used the triple transgenic mouse model of AD (3xTgAD mice) that carries transgenes for mutant forms of APP, Tau, and presenilin proteins that are associated with AD pathology. We measured changes in motor neurons and skeletal muscle function and metabolism in young (2 to 4 month) female control and 3xTgAD mice and in older (18-20 month) control and 3xTgAD female mice. Read More

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The Necessity of Lymph Node Dissection Between Sternocleidomastoid and Sternohyoid Muscles in pN1b Papillary Thyroid Carcinoma.

Front Endocrinol (Lausanne) 2022 25;13:865621. Epub 2022 Apr 25.

Department of Ultrasound Medicine, The First Affiliated Hospital of Xi'an Jiaotong University, Xi'an, China.

Background: This study aimed to evaluate the association between clinicopathologic variables and metastasis of the lymph node (LN) between the sternocleidomastoid and sternohyoid muscles (LNSS) to clarify the necessity of LNSS dissection in papillary thyroid carcinomas (PTCs).

Methods: A total of 219 patients undergoing unilateral or bilateral neck dissection for PTCs were prospectively enrolled. The associations between clinicopathologic variables and LNSS metastasis were evaluated by univariate and multivariate analyses. Read More

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Alterations in Autophagy and Mammalian Target of Rapamycin (mTOR) Pathways Mediate Sarcopenia in Patients with Cirrhosis.

J Clin Exp Hepatol 2022 Mar-Apr;12(2):510-518. Epub 2021 May 21.

Department of Gastroenterology and Human Nutrition Unit, All India Institute of Medical Sciences, New Delhi, India.

Background And Aims: The pathophysiology of sarcopenia in cirrhosis is poorly understood. We aimed to evaluate the histological alterations in the muscle tissue of patients with cirrhosis and sarcopenia, and identify the regulators of muscle homeostasis.

Methods: Computed tomography images at third lumbar vertebral level were used to assess skeletal muscle index (SMI) in 180 patients. Read More

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Diabetic muscle infarction: An unusual cause of acute limb pain in patients on maintenance hemodialysis.

Saudi J Kidney Dis Transpl 2021 Sep-Oct;32(5):1475-1478

Department of Medicine, NKP Salve Institute of Medical Sciences, Nagpur, Maharashtra, India.

Diabetic muscle infarction is underdiagnosed complication occurring in dialysis patients with advanced diabetes mellitus. Atherosclerotic vascular disease and long-standing diabetes are risk factors for this painful condition. Most common presenting symptom is localized pain in the affected limb. Read More

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Frataxin deficiency lowers lean mass and triggers the integrated stress response in skeletal muscle.

JCI Insight 2022 May 9;7(9). Epub 2022 May 9.

Department of Pathology, Anatomy, and Cell Biology, Sidney Kimmel Medical College and.

Friedreich's ataxia (FRDA) is an inherited disorder caused by reduced levels of frataxin (FXN), which is required for iron-sulfur cluster biogenesis. Neurological and cardiac comorbidities are prominent and have been a major focus of study. Skeletal muscle has received less attention despite indications that FXN loss affects it. Read More

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IL-6 Deficiency Attenuates Skeletal Muscle Atrophy by Inhibiting Mitochondrial ROS Production through the Upregulation of PGC-1 in Septic Mice.

Oxid Med Cell Longev 2022 27;2022:9148246. Epub 2022 Apr 27.

Department of Orthopedics, Renmin Hospital of Wuhan University, Wuhan, Hubei 4300670, China.

Current evidences indicate that both inflammation and oxidative stress contribute to the pathogenesis of sepsis-associated skeletal muscle atrophy. However, the interaction between inflammation and oxidative stress has not been completely understood in sepsis-associated skeletal muscle atrophy. Here in the present study, a murine model of sepsis has been established by cecal ligation and puncture (CLP) with wild-type and interleukin- (IL-) 6 knockout (KO) mice. Read More

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Myoglobinopathy affecting facial and oropharyngeal muscles.

Neuromuscul Disord 2022 Feb 24. Epub 2022 Feb 24.

Department of Neurology, National Center Hospital, National Center of Neurology and Psychiatry, 4-1-1 Ogawahigashimachi, Kodaira, Tokyo 187-8551, Japan.

Myoglobinopathy is a rare autosomal dominant myopathy that manifests in adulthood with proximal and axial weakness and variable respiratory and cardiac failure. Muscle pathology features associated with myoglobinopathy include characteristic sarcoplasmic bodies in skeletal and cardiac muscles. Here we present the first case of myoglobinopathy in an Asian individual. Read More

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February 2022

Tissue-specific isoform expression of GNE gene in human tissues.

J Muscle Res Cell Motil 2022 May 7. Epub 2022 May 7.

Ashoka University, Plot No. 2, Rajiv Gandhi Education City, P.O.Rai, Sonepat, Haryana, 131029, India.

Mutations in the sialic acid biosynthesis enzyme GNE lead to a late-onset, debilitating neuromuscular disorder, GNE myopathy, characterized by progressive skeletal muscle weakness. The mechanisms responsible for skeletal muscle specificity, late-onset, and disease progression are unknown. Our main aim is to understand the reason for skeletal muscle-specific phenotype. Read More

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Growth differentiation factor 11 induces skeletal muscle atrophy via a STAT3-dependent mechanism in pulmonary arterial hypertension.

Skelet Muscle 2022 May 6;12(1):10. Epub 2022 May 6.

Department of Pulmonary and Critical Care Medicine, Zhongshan Hospital, Fudan University, 180 Fenglin Road, Shanghai, 200032, China.

Skeletal muscle wasting is a clinically remarkable phenotypic feature of pulmonary arterial hypertension (PAH) that increases the risk of mortality. Growth differentiation factor 11 (GDF11), centrally involved in PAH pathogenesis, has an inhibitory effect on skeletal muscle growth in other conditions. However, whether GDF11 is involved in the pathogenesis of skeletal muscle wasting in PAH remains unknown. Read More

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Clinical and pathological features of immune-mediated necrotising myopathies in a single-centre muscle biopsy cohort.

BMC Musculoskelet Disord 2022 May 6;23(1):425. Epub 2022 May 6.

China-Japan Friendship School of Clinical Medicine, Peking University, Beijing, 100029, China.

Objective: Immune-mediated necrotising myopathy (IMNM) is a subset of idiopathic inflammatory myopathies (IIM) characterized by significantly elevated creatine kinase level, muscle weakness and predominant muscle fibre necrosis in muscle biopsy. This study aimed to investigate the clinical and pathological characteristics of patients with IMNM in a single-centre muscle biopsy cohort.

Methods: A total of 860 patients who had muscle biopsy reports in our centre from May 2008 to December 2017 were enrolled in this study. Read More

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Wiad Lek 2022 ;75(3):634-640


Objective: The aim: To evaluate muscle changes after sciatic nerve damage with the injection of bone marrow aspirate cells.

Patients And Methods: Materials and methods: 36 rabbits underwent sciatic nerve cross-section and neuroraphy, bone marrow aspirate cells were injected directly or 7 weeks after neuroraphy. Changes in skeletal muscle morphology (photomicrographs of histological sections were analyzed for morphometric analysis of collagen region, quantitative analysis of conducted collagen density and measurement of muscle fibers diameter) and biochemical parameters (catalase activity, superoxide dismutase and glutathione peroxidase measurements and level of TBARS was determined) at 8, 12, and 16 weeks were examined. Read More

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AR cooperates with SMAD4 to maintain skeletal muscle homeostasis.

Acta Neuropathol 2022 Jun 6;143(6):713-731. Epub 2022 May 6.

Department of Paediatrics, University of Oxford, South Parks Road, Oxford, OX1 3QX, UK.

Androgens and androgen-related molecules exert a plethora of functions across different tissues, mainly through binding to the transcription factor androgen receptor (AR). Despite widespread therapeutic use and misuse of androgens as potent anabolic agents, the molecular mechanisms of this effect on skeletal muscle are currently unknown. Muscle mass in adulthood is mainly regulated by the bone morphogenetic protein (BMP) axis of the transforming growth factor (TGF)-β pathway via recruitment of mothers against decapentaplegic homolog 4 (SMAD4) protein. Read More

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ZFP64::NCOA3 gene fusion defines a novel subset of spindle cell rhabdomyosarcoma.

Genes Chromosomes Cancer 2022 May 6. Epub 2022 May 6.

Department of Laboratory Medicine and Pathobiology, University of Toronto, Toronto, ON, Canada.

Spindle cell rhabdomyosarcoma represents a rare neoplasm characterized by monomorphic spindle cells with a fascicular architecture and variable skeletal muscle differentiation. Following incidental identification of a ZFP64::NCOA3 gene fusion in an unclassified spindle cell sarcoma resembling adult-type fibrosarcoma, we performed a retrospective archival review and identified four additional cases with a similar histology and identical gene fusion. All tumors arose in adult males (28-71 years). Read More

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Triceps mass - A rare presentation of renal cell carcinoma.

Urol Case Rep 2022 Jul 14;43:102079. Epub 2022 Apr 14.

Urology, Central Adelaide Local Health Network, Australia.

Renal cell carcinoma (RCC) can commonly metastasize to the liver, lungs, bones and brain. We herein report a rare presentation of oligometastatic RCC with isolated synchronous metastasis to the triceps. A 44-year-old male presented with an enlarging mass involving the right triceps. Read More

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[Histiocyte-rich rhabdomyoblastic tumor: a clinicopathological and molecular genetic analysis].

Zhonghua Bing Li Xue Za Zhi 2022 May;51(5):425-430

Department of Pathology, Fujian Provincial Hospital, Provincial Clinical Medical College of Fujian Medical University, Fuzhou 350001, China.

To investigate the clinicopathologic and molecular genetic characteristics, diagnosis, differential diagnosis, treatment and prognosis of histiocyte-rich rhabdomyoblastic tumor (HRRMT). The clinical data of two cases of HRRMT diagnosed in Fujian Provincial Hospital and Fujian University of Traditional Chinese Medicine Affiliated People's Hospital from 2020 to 2021 were collected. Histopathology and immunohistochemical (IHC) staining were used to assess morphological changes; the genetic changes were analyzed with next-generation sequencing. Read More

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Autosomal dominantly inherited myopathy likely caused by the TNNT1 variant p.(Asp65Ala).

Hum Mutat 2022 May 5. Epub 2022 May 5.

Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.

Nemaline myopathies (NEMs) are genetically and clinically heterogenous. Biallelic or monoallelic variants in TNNT1, encoding slow skeletal troponin T1 (TnT1), cause NEM. We report a 2-year-old patient and his mother carrying the heterozygous TNNT1 variant c. Read More

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