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Statement of problem Screening for temporomandibular disorders (TMDs) is important in research and clinical practice. The short-form Fonseca Anamnestic Index (SFAI) was recently introduced but had only been validated for muscle disorders. Purpose The purpose of this clinical study was to determine the diagnostic accuracy of the SFAI and its discrete and pooled items in relation to the Diagnostic Criteria for Temporomandibular Disorders (DC/TMD) benchmark. Material and methods A total of 866 consecutive participants with TMDs and 57 TMD-free controls (aged ≥18 years) were recruited. The participants (n=923; mean age 32.8 ±13.3 years; women 79.2%) answered the FAI, and TMD diagnoses were derived based on the DC/TMD protocol and algorithms. The 5-item SFAI, which comprised 2 pain-related and 3 function-related TMD questions, was subsequently acquired and assessed with reference to the DC/TMD diagnoses. The receiver operating characteristics (ROC) was used to verify accuracy (area under the curve [AUC]) and the best cutoff points. Sensitivity, specificity, predictive values, and likelihood ratios were also examined. Results Pain-related (PT) and intra-articular (IT) TMDs were present in 48.3% (446/923) and 82.7% (763/923) of the participants, respectively. The SFAI demonstrated high accuracy for identifying all TMDs, PT, and IT (AUC of 0.97, 0.99, and 0.97, respectively). The best cutoff points were 12.5 for all TMDs/IT and 17.5 for PT. Sensitivity of the SFAI ranged from 90.7% to 97.5% while specificity varied from 93.0% to 96.5%, with the highest values for PT. As positive predictive values (99.4% to 99.5%) were greater than negative ones (41.7% to 83.3%), the SFAI was better at detecting the presence than the absence of TMDs. With reference to PT, the sensitivity, and specificity of the 2 discrete and pooled pain-related questions (questions 3 and 4), extended from 82.3% to 99.3% and 77.2% to 96.5% respectively. With regard to IT diagnoses, sensitivity and specificity ranged from 56.0% to 98.3% and 86.0% to 98.3% for the 3 discrete and pooled function-related items (questions 1, 2, and 5). Conclusions The SFAI presented high degrees of diagnostic accuracy in relation to the DC/TMD and can be used for screening TMDs. SFAI scores between 15 and 50 points should be used to identify the presence of TMDs, with scores ≥20 points specifying possible pain-related TMDs.

OBJECTIVES To determine the impact of genetic muscle disorders and identify the sociodemographic, illness, and symptom factors influencing quality of life. METHODS Adults (aged 16-90 years) with a confirmed clinical or molecular diagnosis of a genetic muscle disorder identified as part of a nationwide prevalence study were invited to complete an assessment of the impact of their condition. Quality of life was measured using the World Health Organization Quality of Life questionnaire. Impact was measured via the prevalence of symptoms and comparisons of quality of life against New Zealand norms. Multivariate regression models were used to identify the most significant predictors of quality of life domains. RESULTS 490/596 participants completed the assessment (82.2% consent rate). Quality of life was lower than the general population on physical (t = 9.37 p

Background:Salih myopathy, characterised by both congenital myopathy and fatal dilated cardiomyopathy, is an inherited muscle disorder that affects skeletal and cardiac muscles. TTN has been identified as the main cause of this myopathy, the enormous size of this gene poses a formidable challenge to molecular genetic diagnostics.Method:In the present study, whole-exome sequencing, cardiac MRI, and metabolic parameter assessment were performed to investigate the genetic causes of Salih myopathy in a consanguineous Iranian family who presented with titinopathy involving both skeletal and heart muscles in an autosomal recessive inheritance pattern.Results:Two missense variants of TTN gene (NM_001267550.2), namely c.61280A>C (p. Gln20427Pro) and c.54970G>A (p. Gly18324Ser), were detected and segregations were confirmed by polymerase chain reaction-based Sanger sequencing.Conclusions:The compound heterozygous variants, c.61280A>C, (p. Gln20427Pro) and c.54970G>A, (p. Gly18324Ser) in the TTN gene appear to be the cause of Salih myopathy and dilated cardiomyopathy in the family presented. Whole-exome sequencing is an effective molecular diagnostic tool to identify the causative genetic variants of large genes such as TTN.

Made available in DSpace on 2022-04-29T08:35:46Z (GMT). No. of bitstreams: 0 Previous issue date: 2021-01-01 Background: In the Quarter Horse (QH), myosin heavy chain myopathy (MYHM), which is characterised by nonexertional rhabdomyolysis or immune-mediated myositis (IMM) with acute muscle atrophy, is strongly associated with the missense E321G MYH1 mutation. Objectives: To document the existence of MYHM in the Brazilian QH population, this study includes a case report of two related QH foals with the E321G MYH1 mutation that had clinical signs of MYHM, with histological confirmation of IMM in one of the foals. This prompted an investigation the aim of which was to determine the allele frequency of the E321G MYH1 variant across QHs using a DNA archive in Brazil. Study design: Cross sectional. Methods: To estimate the allele frequency of the E321G MYH1 variant in Brazilian QHs, 299 DNA samples from QHs used in different disciplines (reining, barrel racing, halter, cutting and racing) were analysed. DNA fragments containing the region with the mutation were amplified by PCR and used for direct genomic sequencing. Results: Of the 299 genotyped QHs, 44 animals (14.7%) were heterozygous (My/N) for the E321G MYH1 variant, and 255 (85.3%) were homozygous for the wild-type allele (N/N), implying an allele frequency of 0.074. Reining horses had a significantly higher prevalence of heterozygosity than horses in other disciplines (P =.008). Main limitations: The DNA samples were collected from 2010 to 2014. As only registered QHs were evaluated, the results may not reflect the actual incidence in the general population of Brazilian QHs. Conclusions: The reported cases of MYHM and the high prevalence of the MYH1 mutation found in the assessed Brazilian QH population, particularly in reining QHs, suggests that MYHM should be included in genetic screening. Reasonable control measures are important to prevent an increase in the incidence of MYHM in QHs in Brazil. Department of Veterinary Clinical Science School of Veterinary Medicine and Animal Science São Paulo State University (UNESP) School of Veterinary Medicine Universidade Federal de Uberlândia Sector of Veterinary Pathology Veterinary Faculty Federal University of Rio Grande Sul Department of Large Animal Clinical Sciences College of Veterinary Medicine Michigan State University Department of Population Health and Reproduction School of Veterinary Medicine University of California-Davis Department of Veterinary Clinical Science School of Veterinary Medicine and Animal Science São Paulo State University (UNESP)

Type 2 diabetes is the most common type of diabetes and causes a decline in muscle quality. In this study, we investigated the effects of the root extract of Morinda officinalis (MORE) on skeletal muscle damage in mice with high-fat-diet (HFD)/streptozotocin (STZ)-induced diabetes and the expression of myogenic and biogenesis regulatory proteins in C2C12 myoblast differentiation. An in vivo model comprised C57BL/6N mice fed HFD for 8 weeks, followed by a single injection of STZ at 120 mg/kg. MORE was administered at 100 and 200 mg/kg once daily (p.o.) for 4 weeks. The changes in body weight, calorie intake, and serum levels of glucose, insulin, total cholesterol (TCHO), HDL-cholesterol (HDL-C), LDL-cholesterol (LDL-C), aspartate transaminase (AST), and alanine aminotransferase (ALT) were investigated in diabetic mice. The histological changes in the gastrocnemius muscle were observed by H&E staining, and then the myofiber size was measured. The expression of the myogenic (MHC, myogenin, and MyoD) and biogenesis (PGC-1α, SIRT1, NRF1, and TFAM) regulatory proteins was examined in the muscle tissues and differentiated C2C12 myoblasts by Western blot, respectively. The administration of MORE at 200 mg/kg in mice with HFD/STZ-induced diabetes significantly reduced weight gains, calorie intake, insulin resistance, and serum levels of glucose, TCHO, LDL-C, AST, and ALT. MORE administration at 100 and 200 mg/kg significantly increased serum insulin and HDL-C levels in diabetic mice. In addition, MORE significantly increased the expression of MHC, myogenin, MyoD, PGC-1α, SIRT1, NRF1, and TFAM in muscle tissues as well as increased the myofiber size in diabetic mice. In C2C12 myoblast differentiation, MORE treatment at 0.5, 1, and 2 mg/mL significantly increased the expression of myogenic and biogenesis regulatory proteins in a dose-dependent manner. MORE improves diabetes symptoms in mice with HFD/STZ-induced diabetes by improving muscle function. This suggests that MORE could be used to prevent or treat diabetes along with muscle disorders.

Limb-girdle muscular dystrophies (LGMDs) represent a major group of muscle disorders. Treatment is sorely needed and currently expanding based on safety and efficacy adopting principles of single-dosing gene therapy for monogenic autosomal recessive disorders. Gene therapy has made in-roads for LGMD and this review describes progress that has been achieved for these conditions. This review first provides a background on the definition and classification of LGMDs. The major effort focuses on progress in LGMD gene therapy, from experimental studies to clinical trials. The disorders discussed include the LGMDs where the most work has been done including calpainopathies (LGMD2A/R1), dysferlinopathies (LGMD2B/R2) and sarcoglycanopathies (LGMD2C/R5, LGMD2D/R3, LGMD2E/R4). Early success in clinical trials provides a template to move the field forward and potentially apply emerging technology like CRISPR/Cas9 that may enhance the scope and efficacy of gene therapy applied to patient care.Lay abstract Limb-girdle muscular dystrophy is a term that is applied to a group of relatively rare forms of muscular dystrophy. The term ‘LGMD’ was introduced in the 1950’s, but there were no strict rules for defining the condition. This changed as a result of the 229th European Neuromuscular Center International Workshop in 2017 providing a clear definition and classification discussed in this article. Limb-girdle muscular dystrophy is now recognized as a genetic muscle disease with an elevated serum creatine kinase and dystrophic changes on muscle histology. Most treatments up to now rely on supportive measures for heart and lungs and assisting the physical limitations. Medications have not proven to be beneficial to stop progression of disease. This article focuses on new innovations of treatment that target the effected gene and the use special methods to replace the abnormal gene.

Bu çalışma ile, son yıllarda önemi giderek artan bir kas problemi olan “Odunsu Göğüs Eti” (OGE) sendromunu ve bu miyopatiden dolayı oluşan anomalilerin etiyolojisi, histolojik, makroskobik ve mikroskobik özellikleri hakkında bir derleme sunmak amaçlanmıştır. Buna ilave olarak, etlik piliçlerin göğüs etinin görsel, duyusal, işlevsel, mekanik kalitesi ve işlenebilirliği üzerindeki etkileri ile bunların kanatlı endüstrisi üzerindeki olumsuz etkileri de ele alınmıştır. Bu miyopati, pektolaris major kasına sert bir yapı verdiğinden, halk arasında “Odunsu Göğüs” adını almıştır. Etlik piliçlerde görülen OGE sendromunun altında yatan doğrudan ve dolaylı sebeplerin başında; pektoral kas hipertrofisi (kas hücrelerinde meydana gelen hacim artışı), hızlı büyüme oranı ve yüksek göğüs eti verimi geldiği varsayılmaktadır. Ayrıca, yaş, cinsiyet, rasyon, kısıtlı yemleme, oksidatif stres, genetik vb. faktörlerin de etkili olduğu düşünülmektedir. Ancak, OGE sendromu etiyolojisi birçok yönü ile halen belirsizliğini korumaktadır. Odunsu Göğüs etlerinin makroskopik incelemesi sonucunda, pektoral majör kaslarda dikkat çekici bir sertlik, şişkinlik, viskoz bir eksüdat (yangı sıvısı), peteşiyal (küçük kabartısız mor-kırmızı kanama lekesi) sıvı ve solgun bir görüntü göze çarpmakta ve oluşan lezyonlar elle muayene yoluyla tespit edilebilmektedir. Etteki bu görsel ve duyusal kusurlar, etin tüketilebilirliğini olumsuz yönde etkilemekte ve kanatlı endüstrisi için önemli ekonomik kayıplara neden olmaktadır. The aim of the study is to present a review about the "Wooden Breast Syndrome" (WBS) syndrome, which is a muscle disorder that has become increasingly important in recent years, and the etiology of the abnormalities caused by this myopathy, and its histological, macroscopic, and microscopic features. Besides, the effects on the visual, sensory, functional, mechanical quality and processing properties of the breast meat of broilers and their negative effects on the poultry industry were also discussed. Since this myopathy gives a hard structure to the pectolaris major muscle, it is called "Wooden Breast" in public. It is assumed that the leading direct and indirect causes of WB syndrome in broilers are pectoral muscle hypertrophy (volume increase in muscle cells), rapid growth rate, and high breast meat yield. Also, age, gender, diet, feed restriction, oxidative stress, genetics, etc. factors are also thought to be effective. However, the etiology of WB syndrome is still unclear in many aspects. As a result of the macroscopic examination of the wooden breast meat, a striking stiffness, swelling, viscous exudate (inflammatory fluid), petechial (purple-red bleeding spots) fluid, and a pale appearance in the pectoral major muscles are observed, and the lesions that occur can be detected by palpation. Due to these visual and sensory defects in breast meat, the consumability of meat decreases and this leads to significant economic losses for the poultry industry.

Background Transmembrane proteins are vital for intercellular signalling and play important roles in the control of cell fate. However, their physiological functions and mechanisms of action in myogenesis and muscle disorders remain largely unexplored. It has been found that transmembrane protein 182 (TMEM182) is dramatically up‐regulated during myogenesis, but its detailed functions remain unclear. This study aimed to analyse the function of TMEM182 during myogenesis and muscle regeneration. Methods RNA sequencing, quantitative real‐time polymerase chain reaction, and immunofluorescence approaches were used to analyse TMEM182 expression during myoblast differentiation. A dual‐luciferase reporter assay was used to identify the promoter region of the TMEM182 gene, and a chromatin immunoprecipitation assay was used to investigate the regulation TMEM182 transcription by MyoD. We used chickens and TMEM182‐knockout mice as in vivo models to examine the function of TMEM182 in muscle growth and muscle regeneration. Chickens and mouse primary myoblasts were used to extend the findings to in vitro effects on myoblast differentiation and fusion. Co‐immunoprecipitation and mass spectrometry were used to identify the interaction between TMEM182 and integrin beta 1 (ITGB1). The molecular mechanism by which TMEM182 regulates myogenesis and muscle regeneration was examined by Transwell migration, cell wound healing, adhesion, glutathione‐S‐transferse pull down, protein purification, and RNA immunoprecipitation assays. Results TMEM182 was specifically expressed in skeletal muscle and adipose tissue and was regulated at the transcriptional level by the myogenic regulatory factor MyoD1. Functionally, TMEM182 inhibited myoblast differentiation and fusion. The in vivo studies indicated that TMEM182 induced muscle fibre atrophy and delayed muscle regeneration. TMEM182 knockout in mice led to significant increases in body weight, muscle mass, muscle fibre number, and muscle fibre diameter. Skeletal muscle regeneration was accelerated in TMEM182‐knockout mice. Furthermore, we revealed that the inhibitory roles of TMEM182 in skeletal muscle depend on ITGB1, an essential membrane receptor involved in cell adhesion and muscle formation. TMEM182 directly interacted with ITGB1, and this interaction required an extracellular hybrid domain of ITGB1 (aa 387–470) and a conserved region (aa 52–62) within the large extracellular loop of TMEM182. Mechanistically, TMEM182 modulated ITGB1 activation by coordinating the association between ITGB1 and laminin and regulating the intracellular signalling of ITGB1. Myogenic deletion of TMEM182 increased the binding activity of ITGB1 to laminin and induced the activation of the FAK‐ERK and FAK‐Akt signalling axes during myogenesis. Conclusions Our data reveal that TMEM182 is a novel negative regulator of myogenic differentiation and muscle regeneration.

Background: Ryanodine receptor 1-related myopathy (RYR1-RM) can present with a selective pattern and gradient of intramuscular fatty infiltration (IMFI) on magnetic resonance imaging (MRI). Objective: To demonstrate an automated protocol for quantification of IMFI in the lower extremity muscles of individuals with RYR1-RM using T1-weighted MRI and to examine the relationships of IMFI with motor function and clinical severity. Methods: Axial images of the lower extremity muscles were acquired by T1-weighted fast spin-echo and short tau inversion recovery (STIR) sequences. A modified ImageJ-based program was used for quantification. IMFI data was analyzed by mode of inheritance, motor function, and clinical severity. Results: Upper and lower leg IMFI from 36 genetically confirmed and ambulatory RYR1-RM affected individuals (26 dominant and 10 recessive) were analyzed using Grey-scale quantification. There was no statistically significant difference in IMFI between dominant and recessive cases in upper or lower legs. IMFI in both upper and lower legs was inversely correlated with participant performance on the motor function measure (MFM-32) total score (upper leg: p

Duchenne and Becker muscular dystrophy (DMD/BMD) are commonly inherited muscle disorders. We report a 31-year-old male who had muscle symptoms with left-right differences and intellectual disability. He was diagnosed with BMD at age 15 primarily based on muscle biopsy findings. A few years later, DMD gene analysis revealed that he was a heterozygous carrier of a normal copy of the gene and a mutated copy with an exon 45–54 deletion, which is expected to result in an out-of-frame mutation. A karyotype analysis was compatible with XXY Klinefelter's syndrome. The analysis of X-chromosome inactivation (XCI) using his skeletal muscle sample revealed a skewed XCI pattern. This is the first reported case of a symptomatic male carrier of DMD caused by skewed XCI in Klinefelter's syndrome with a genetically proven heterozygous mutation of the DMD gene. The skewed XCI pattern could also explain the left-right differences in skeletal muscle symptoms observed in this patient.

The incidence of muscle spasticity is high in patients with diseases of the central nervous system. This condition leads to significant limitations in movement and impaired functional capacities. Muscle spasticity manifests as changes in the mechanical properties of the muscles. This muscle disorder is generally assessed using qualitative methods, whose validity, reliability and sensitivity are questionable. In recent years, ultrasound elastography (USE) has been used as a non-invasive technique for characterizing the stress response and mechanical properties of individual muscles in the evaluation of spasticity. This article presents a systematic review of the USE techniques, following the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) declaration guidelines, used for the evaluation of muscle stiffness caused by spasticity. The articles selected in this study were evaluated using the Quality Appraisal of Diagnostic Reliability (QAREL) tool. Mainly, studies on the assessment of spasticity involving the evaluation of muscle stiffness with USE techniques (i.e., shear-wave elastography [SWE] or compression elastography [CE]) were selected. Then, common topics related to the assessment of spastic muscles and the statistical results of these studies were classified. Of 21 articles, nine used only CE, 10 used only SWE and two used both techniques. In the studies, statistically significant differences were observed in the measurements of muscle stiffness between the paretic and non-paretic sides as well as between patients and healthy patients. The clinical measurements obtained, devices used and assessment and probe positions for both techniques were discussed. The most frequently studied muscles were the biceps (n = 7) and gastrocnemius (n = 11). On applying the QAREL tool, we found that only two studies showed compliance at 80%–90%, seven studies at 50%–70% and the remaining 12 at 10%–40%. The results showed that USE techniques have limitations in spasticity assessment, such as subjectivity because of the lack of standardized protocols. A deficit of studies on intra-operator and inter-operator measurements indicates that this technique is not yet mature for spasticity diagnosis, although it is a promising diagnostic tool for designing treatment plans and monitoring the effectiveness of therapeutic modalities.

Duchenne muscular dystrophy (DMD) is an X-linked lethal muscle disorder characterized by primary muscle degeneration. Therapeutic strategies for DMD have been extensively explored, and some are in the stage of human clinical trials. Along with the development of new therapies, sensitive outcome measures are needed to monitor the effects of new treatments. Therefore, we investigated outcome measures such as biomarkers and motor function evaluation in a dystrophic model of beagle dogs, canine X-linked muscular dystrophy in Japan (CXMDJ). Osteopontin (OPN), a myogenic inflammatory cytokine, was explored as a potential biomarker in dystrophic dogs over the disease course. The serum OPN levels of CXMDJ dystrophic dogs were elevated, even in the early disease phase, and this could be related to the presence of regenerating muscle fibers; as such, OPN would be a promising biomarker for muscle regeneration. Next, accelerometry, which is an efficient method to quantify performance in validated tasks, was used to evaluate motor function longitudinally in dystrophic dogs. We measured three-axis acceleration and angular velocity with wireless hybrid sensors during gait evaluations. Multiple parameters of acceleration and angular velocity showed notedly lower values in dystrophic dogs compared with wild-type dogs, even at the onset of muscle weakness. These parameters accordingly decreased with exacerbation of clinical manifestations along with the disease course. Multiple parameters also indicated gait abnormalities in dystrophic dogs, such as a waddling gait. These outcome measures could be applicable in clinical trials of patients with DMD or other muscle disorders.

Introduction Distal myopathies are a group of rare muscle disorders characterized by selective or predominant weakness in the feet and/or hands. In 2019, ACTN2 gene was firstly identified to be a cause of a new adult‐onset distal muscular dystrophy calling actininopathy and another distinctly different myopathy, named multiple structured core disease (MsCD). Thus, the various phenotypes and limited mutations in ACTN2‐related myopathy make the genotype‐phenotype correlation hard to understand. Aims To investigate the clinical features and histological findings in a Chinese family with distal myopathy. Whole exome sequencing and several functional studies were performed to explore the pathogenesis of the disease. Results We firstly identified a novel frameshift variant (c.2504delT, p.Phe835Serfs*66) within ACTN2 in a family including three patients. The patients exhibited adult‐onset distal myopathy with multi‐minicores, which, interestingly, was more like a combination of MsCD and actininopathy. Moreover, functional analysis using muscle samples revealed that the variant significantly increased the expression level of α‐actinin‐2 and resulted in abnormal Z‐line organization of muscle fiber. Vitro studies suggested aggregate formations might be involved in the pathogenesis of the disease. Conclusion Our results expanded the phenotypes of ACTN2‐related myopathy and provided helpful information to clarify the molecular mechanisms., A rare adult‐onset distal myopathy with multi‐minicores caused by a novel ACTN2 mutation. Functional analysis using muscle samples revealed that the variant significantly increased the expression level of α‐actinin‐2 and resulted in abnormal Z‐line organization of muscle fiber. Vitro studies suggested aggregate formations might be involved in the pathogenesis of the disease.

The aim of the current study is to investigate the effects of spray dry powders of Curcuma longa containing 40% curcumin (CM-SD), as a new aqueous curcumin formula, on sarcopenia in chronic forced exercise executed 10 month old ICR mice. CM-SD (80 and 40 mg/kg) increased calf thicknesses and strengths, total body and calf protein amounts, and muscle weights in both gastrocnemius and soleus muscles. mRNA expressions regarding muscle growth and protein synthesis were induced, while those of muscle degradation significantly declined in CM-SD treatment. CM-SD decreased serum biochemical markers, lipid peroxidation, and reactive oxygen species and increased endogenous antioxidants and enzyme activities. It also reduced immunoreactive myofibers for apoptosis and oxidative stress markers but increased ATPase in myofibers. These results suggest that CM-SD can be an adjunct therapy to exercise-based remedy that prevents muscle disorders including sarcopenia by anti-apoptosis, anti-inflammation, and antioxidation-mediated modulation of gene expressions related to muscle degradation and protein synthesis.

espanolLas miopatias inflamatorias son un grupo heterogeneo de enfermedades musculares adquiridas, caracterizadas por la presencia de un infiltrado inflamatorio no supurativo de la musculatura esqueletica, que conlleva una debilidad muscular progresiva. Sin embargo, su diagnostico puede dificultarse por su similitud con otros trastornos musculares. Por lo tanto, es fundamental recabar una historia clinica y una exploracion fisica exhaustivas. Algunas alteraciones observadas en pruebas complementarias, como la elevacion de enzimas musculares y cambios tipicos en la electromiografia, son orientativos de miositis. Algunos estudios, como la resonancia magnetica (RM), son de utilidad para seleccionar el lugar idoneo para la biopsia muscular, ya que la afectacion es parcheada. La deteccion de autoanticuerpos sera de utilidad para dibujar el espectro clinico, teniendo ademas implicaciones pronosticas. Dada la gran variedad de causas de miopatia (infecciosas, endocrinopatias, hereditarias, toxicos, etc.), este protocolo se enfocara en las principales patologias a tener en cuenta en el diagnostico diferencial de las miopatias inflamatorias inmunomediadas. EnglishInflammatory myopathies represent a heterogeneous group of acquired muscle diseases, characterised by the presence of a non-suppurative inflammatory infiltrate of the skeletal muscle system, involving progressive muscle weakness. However, diagnosing it can be difficult due to its similarity with other muscle disorders. Consequently, it is essential to achieve a thorough clinical history and physical examination. Some alterations seen in complementary tests, such as muscle enzyme elevation and habitual changes in electromyography, are indicative of myositis. Several studies, such as magnetic resonance imaging (RMI), are useful in selecting the best spot for muscle biopsy, given that affectation is patchy. Detecting autoantibodies is helpful to define the clinical spectrum, and also has prognostic implications. Given the wide variety of causes of myopathy (infectious, endocrinopathies, hereditary, toxic substances, etc.), this protocol focuses on the main pathologies to take into consideration in the differential diagnosis of immune-mediated inflammatory myositis.

Statin inhibits the HMG-CoA reductase enzyme, which lowers cholesterol levels in plasma. However, the use of this group of medicines has been associated with some side effects, including myopathy and muscle disorders. Various modalities have been suggested to reduce the occurrence of this adverse effect. Vitamin D has potential positive effects on muscle disorders and inflammatory diseases. This study examines the therapeutic effect of vitamin D on statin-induced myopathy. This study was a single-blinded randomized controlled clinical trial, performed on patients with statin-induced myopathy. Forty-three patients were randomly assigned into two groups by the random block method. The first group received pearl of vitamin D3 50,000 units orally for 8 weeks, while the second group received injected form of vitamin D3 300,000 IU per month. The McGill Pain Management (MPQ) questionnaire was filled out to collect information in six therapeutic sessions. For statistical analysis of data, software SPSS22 and covariance tests were performed. The results showed that supplemented vitamin D resulted in a significant reduction of pain and emotional perception (p < 0/05). Both serum levels of vitamin D level and VAS (visual analog scale) score increased significantly after both oral and injectable forms of vitamin D (p = 0.001). The results of the present study suggested that vitamin D, in both dosage forms of oral and injectable, could be administered as an effective modality to control pain in patients with statin-induced myopathy. Vitamin D could be considered as an inexpensive and available noninvasive approach by the healthcare team. Trial registration: IRCT20180422039379N1, Registration date: 2018-06-05 ( https://www.irct.ir/trial/30724 )

Wearable devices have found numerous applications in healthcare ranging from physiological diseases, such as cardiovascular diseases, hypertension and muscle disorders to neurocognitive disorders, such as Parkinson’s disease, Alzheimer’s disease and other psychological diseases. Different types of wearables are used for this purpose, for example, skin-based wearables including tattoo-based wearables, textile-based wearables, and biofluidic-based wearables. Recently, wearables have also shown encouraging improvements as a drug delivery system; therefore, enhancing its utility towards personalized healthcare. These wearables contain inherent challenges, which need to be addressed before their commercialization as a fully personalized healthcare system. This paper reviews different types of wearable devices currently being used in the healthcare field. It also highlights their efficacy in monitoring different diseases and applications of healthcare wearable devices (HWDs) for diagnostic and treatment purposes. Additionally, current challenges and limitations of these wearables in the field of healthcare along with their future perspectives are also reviewed.

Skeletal muscle comprises 40% to 55% of mature body weight in horses, and its mass is determined largely by rates of muscle protein synthesis. In order to support exercise, appropriate energy sources are essential: glucose can support both anaerobic and aerobic exercise, whereas fat can only be metabolized aerobically. Following exercise, ingestion of nonfiber carbohydrates and protein can aid muscle growth and recovery. Muscle glycogen replenishment is slow in horses, regardless of dietary interventions. Several heritable muscle disorders, including type 1 and 2 polysaccharide storage myopathy and recurrent exertional rhabdomyolysis, can be managed in part by restricting dietary nonstructural carbohydrate intake.

Neben Storungen und Erkrankungen peripherer Nerven sind in den letzten Monaten im Zusammenhang mit COVID-19 („coronavirus disease 2019“) auch Begleitsymptome und Storungen der Muskulatur bzw. der neuromuskularen Transmission beschrieben worden. Im zweiten Teil unserer Zusammenfassung geben wir eine Ubersicht uber haufig berichtete Symptome wie Myalgien und definierte Erkrankungen wie Rhabdomyolysen, Myositiden, Myasthenie und „intensive care unit acquired weakness“ (ICUAW), die im Rahmen eine SARS-CoV-2(„severe acute respiratory syndrome coronavirus 2“)-Infektion bzw. COVID-19 beschrieben wurden. Daruber hinaus werden Kriterien fur eine Kausalitat wie Effektstarke, Plausibilitat, Zeitverlauf und experimentelle Evidenz fur einen kausalen Zusammenhang der in beiden Teilen der Ubersicht beschriebenen COVID-19 assoziierten neuromuskularen Erkrankungen diskutiert. Zum jetzigen Zeitpunkt sind – neben der auch in der Laienpresse bekannten Geruchssinnstorung – vor allem Myalgien als unspezifisches Symptom haufige Folge einer symptomatischen SARS-CoV‑2 Infektion. Andere neuromuskulare Komplikationen erscheinen hinsichtlich ihrer Pathogenese prinzipiell plausibel, aber offenbar selten Folge einer SARS-CoV-2-Infektion zu sein. Prospektive bzw. Kohortenstudien sind notwendig, um eine Kausalitat zu bestatigen und das Risiko abzuschatzen.

Wooden breast (WB) and white striping (WS) are highly prevalent and economically damaging muscle disorders of modern commercial broiler chickens characterized respectively by palpable firmness and fatty white striations running parallel to the muscle fiber. High feed efficiency and rapid growth, especially of the breast muscle, are believed to contribute to development of such muscle defects; however, their etiology remains poorly understood. To gain insight into the genetic basis of these myopathies, a genome-wide association study was conducted using a commercial crossbred broiler population (n = 1193). Heritability was estimated at 0.5 for WB and WS with high genetic correlation between them (0.88). GWAS revealed 28 quantitative trait loci (QTL) on five chromosomes for WB and 6 QTL on one chromosome for WS, with the majority of QTL for both myopathies located in a ~ 8 Mb region of chromosome 5. This region has highly conserved synteny with a portion of human chromosome 11 containing a cluster of imprinted genes associated with growth and metabolic disorders such as type 2 diabetes and Beckwith-Wiedemann syndrome. Candidate genes include potassium voltage-gated channel subfamily Q member 1 (KCNQ1), involved in insulin secretion and cardiac electrical activity, lymphocyte-specific protein 1 (LSP1), involved in inflammation and immune response.

ACTA1 gene encodes the skeletal muscle alpha-actin, the core of thin filaments of the sarcomere. ACTA1 mutations are responsible of several muscle disorders including nemaline, cores, actin aggregate myopathies and fiber-type disproportion. We report clinical, muscle imaging, histopatological and genetic data of an Italian family carrying a novel ACTA1 mutation. All affected members showed a late-presenting, diffuse muscle weakness with sternocleidomastoideus and temporalis atrophy. Mild dysmorphic features were also detected. The most affected muscles by muscle MRI were rectus abdominis, gluteus minimus, vastus intermedius and both gastrocnemii. Muscle biopsy showed the presence of nemaline bodies with several unusual dark areas at Gomori Trichrome, corresponding to unstructured cores with abundant electrodense material by electron microscopy. The molecular analysis revealed missense variant c.148G>A; p.(Gly50Ser) in the exon 3 of ACTA1, segregating with affected members in the family. We performed a functional essay of fibre contractility showing a higher pCa50 (a measure of the calcium sensitivity of force) of type 1 fibers compared to control subjects’ type 1 muscle fibers. Our findings expand the clinico-pathological spectrum of ACTA1-related congenital myopathies and the genetic spectrum of core-rod myopathies.

BackgroundIn Pompe disease, an inherited metabolic muscle disorder, severe diaphragmatic weakness often occurs. Enzyme replacement treatment is relatively ineffective for respiratory function, possibly because of irreversible damage to the diaphragm early in the disease course. Mildly impaired diaphragmatic function may not be recognized by spirometry, which is commonly used to study respiratory function. In this cross-sectional study, we aimed to identify early signs of diaphragmatic weakness in Pompe patients using chest MRI.MethodsPompe patients covering the spectrum of disease severity, and sex and age matched healthy controls were prospectively included and studied using spirometry-controlled sagittal MR images of both mid-hemidiaphragms during forced inspiration. The motions of the diaphragm and thoracic wall were evaluated by measuring thoracic cranial-caudal and anterior–posterior distance ratios between inspiration and expiration. The diaphragm shape was evaluated by measuring the height of the diaphragm curvature. We used multiple linear regression analysis to compare different groups.ResultsWe included 22 Pompe patients with decreased spirometry results (forced vital capacity in supine position p p = 0.001), indicating an increased curvature of the diaphragm during inspiration in Pompe patients.ConclusionsEven in early-stage Pompe disease, when spirometry results are still within normal range, the motion of the diaphragm is already reduced and the shape is more curved during inspiration. MRI can be used to detect early signs of diaphragmatic weakness in patients with Pompe disease, which might help to select patients for early intervention to prevent possible irreversible damage to the diaphragm.

Background Spinal muscular atrophy is a group of autosomal recessive inherited neurological disorders secondary to a genetic mutation that leads to progressive muscle weakness and atrophy. Recently approved by the Food and Drug Administration, Nusinersen is the first treatment specifically for spinal muscular atrophy. This drug must be administered intrathecally, as it does not cross the blood-brain barrier. Aims Retrospective review of the individualized perioperative care of spinal muscular atrophy type I and II patients for intrathecal Nusinersen injection. Methods After approval from the Institutional Review Board and obtaining informed written consent from parents, we reviewed the anesthetic charts of nine patients who underwent 58 Nusinersen injections over a 23-month period from February 2017 to December 2018. An individualized anesthetic plan was formulated based on the patient's disease severity, anxiety level, and comfort of parents as well as the provider performing the procedure. Patients underwent intrathecal Nusinersen injection under fluoroscopic guidance, with either general anesthesia, monitored anesthesia care with medications or monitored anesthesia care without medications. Patients recovered in the postanesthesia care unit for a minimum of 1 hour after injection, irrespective of the anesthetic method utilized. Analysis included patient demographics, anesthesia type relative to spinal muscular atrophy type I vs. II, and postanesthesia recovery. Results Nine patients with spinal muscular atrophy types I and II underwent 58 encounters. Five spinal muscular atrophy type I patients underwent 31 encounters, general anesthesia (9), monitored anesthesia care with medications (2), and monitored anesthesia care without medications (20). Four spinal muscular atrophy type II patients underwent 27 encounters, general anesthesia (22), monitored anesthesia care with medications (2), and monitored anesthesia care without medications (3). There were no perioperative complications. Conclusion The anesthetic plan for Nusinersen injections must be individualized to the patient's specific needs and clinical manifestations of the disease. When carefully tailored to each patient, anesthetic care is safe and successful.

Congenital muscular dystrophies are a distinct group of inherited muscle disorders that manifest within the 1st year of life accompanied by weakness, hypotonia, and developmental delay. A distinguishing feature of congenital muscular dystrophy from other muscular dystrophies is an increased association with brain malformations, particularly disorders of cortical development such as lissencephaly, pachygyria, and polymicrogyria. Moreover, some subtypes of congenital muscular dystrophies (CMDs) such as muscle eye brain disease and Walker-Warburg syndrome are more commonly associated with structural eye abnormalities apart from brain malformations. The inheritance of CMD is usually autosomal recessive except for CMD with spinal rigidity and lamin A/C abnormality and Ullrich CMD.

Myositis has many etiologies, and it can be encountered in the acute or chronic setting. Our goal is to increase the radiologist's knowledge of myositis and other urgent muscle disorders encountered in the emergent or urgent setting. We review the clinical presentation, the MRI appearance, and the complications that can be associated with these entities. Since myositis can affect multiple muscle compartments, we review how to differentiate the compartments of the appendicular skeletal in order to generate reports that relay important anatomic information to the treating physician. Given the poor sensitivity and positive predictive value of the clinical signs and symptoms used to diagnosing acute compartment syndrome, we discuss the potential use of MRI in cases of suspected but clinically equivocal compartment syndrome in the future.

Duchenne muscular dystrophy (DMD) is a fatal muscle disorder characterized by cycles of degeneration and regeneration of multinucleated myofibers and pathological activation of a variety of other muscle-associated cell types. The extent to which different nuclei within the shared cytoplasm of a myofiber may display transcriptional diversity and whether individual nuclei within a multinucleated myofiber might respond differentially to DMD pathogenesis is unknown. Similarly, the potential transcriptional diversity among nonmuscle cell types within dystrophic muscle has not been explored. Here, we describe the creation of a mouse model of DMD caused by deletion of exon 51 of the dystrophin gene, which represents a prevalent disease-causing mutation in humans. To understand the transcriptional abnormalities and heterogeneity associated with myofiber nuclei, as well as other mononucleated cell types that contribute to the muscle pathology associated with DMD, we performed single-nucleus transcriptomics of skeletal muscle of mice with dystrophin exon 51 deletion. Our results reveal distinctive and previously unrecognized myonuclear subtypes within dystrophic myofibers and uncover degenerative and regenerative transcriptional pathways underlying DMD pathogenesis. Our findings provide insights into the molecular underpinnings of DMD, controlled by the transcriptional activity of different types of muscle and nonmuscle nuclei.

Purpose of review Idiopathic inflammatory myopathies (IIMs), known also as myositis, represent challenging group of heterogeneous muscle disorders characterized by symmetric proximal muscle weakness and evidence of muscle inflammation. The purpose of this review is to provide important updates on cytokines and inflammatory mediators related to myositis. Recent findings In the past 5 years, multiple studies brought a fresh insight into the pathogenesis of myositis by introducing new factors or further characterizing the role of the well established mediators in myositis. Among the mediators reviewed in this article, special attention was paid to interferons, C-X-C motif chemokine ligand 10, interleukin-18 and the IL23/Th17 axis. Some of the recent work has also focused on the nontraditional cytokines, such as adipokines, myokines, S100 proteins, High Mobility Group Box 1 or B-cell activating factor and on several anti-inflammatory mediators. Moreover, microRNAs and their potential to reflect the disease activity or to regulate the inflammatory processes in myositis have recently been subject of intensive investigation. Some of the above-mentioned mediators have been proposed as promising clinical biomarkers or therapeutic targets for myositis. Summary Several recent studies contributed to a better understanding of the pathogenesis of myositis and highlighted the clinical significance of certain inflammatory mediators. Application of these new findings may help to develop innovative approaches for patients' phenotyping, disease activity monitoring and potentially novel therapies.

Oxidative stress-induced myoblast damage is one of the major causes of skeletal muscle loss associated with inhibition of myogenic differentiation and muscle dysfunction. Trans-cinnamaldehyde (tCA), the most common essential oil constituent in cinnamon, is known to possess strong anti-oxidant activity. However, it has not been determined whether tCA can protect myoblasts from oxidative damage. The aim of this study was to investigate the protective effect of tCA against oxidative stress-induced damage in mouse myoblast C2C12 cells. To examine the efficacy of tCA to protect against oxidative damage, cell viability, morphological changes, DNA damage, mitochondrial membrane potential (MMP) analysis, reactive oxygen species (ROS) generation, and Western blotting were applied. tCA suppressed hydrogen peroxide (H2O2)-induced growth inhibition and DNA damage by blocking abnormal ROS accumulation. In addition, tCA attenuated apoptosis by suppressing loss of MMP and cytosolic release of cytochrome c, increasing the rate of Bcl-2/Bax expression and reducing the activity of caspase-3 in H2O2-stimulated cells, suggesting that tCA protected C2C12 cells from mitochondria-mediated apoptosis caused by oxidative stress. The results showed that tCA may be useful as a potential treatment for the prevention and treatment of various oxidative stress-related muscle disorders in the future.

Inflammatory myopathies are a group of immune-mediated muscle disorders comprising dermatomyositis; polymyositis; overlap myositis, including antisynthetase syndromes and nonspecific myositis, immune-mediated necrotizing myopathies, and sporadic inclusion body myositis. They are now much more eloquently classified both pathologically and clinically because of the discovery of several myositis-specific and myositis-associated antibodies. These antibodies also aid in choosing the best treatment options in each case. Based on the initial classifications of inflammatory myopathies, inclusion body myositis, overlap myositis, and necrotizing myositis were all included in the polymyositis group. This article discusses cases, diagnostic tools, associated antibodies, and pathology.