muscular

Skeletal muscle's regenerative ability is vital for maintaining muscle function, but chronic diseases like Duchenne muscular dystrophy can deplete this capacity. Muscle satellite cells, quiescent in normal situations, are activated during muscle injury, expressing myogenic regulatory factors, and producing myogenic progenitor cells. It was reported that muscle stem cells in primary culture and reserve cells in C2C12 cells express anti-apoptotic protein Bcl-2. Although the role of Bcl-2 expressed in myogenic cells has been thought to be to enhance cell viability, we hypothesized that Bcl-2 may promote the formation of reserve cells...

The subject-specific range of motion (RoM) of a musculoskeletal joint system is balanced by pre-tension levels of individual muscles, which affects their contraction capability. Such an inherent pre-tension or pre-stretch of muscles is not measureable with in vivo experiments. Using a 3D continuum mechanical forward simulation approach for motion analysis of the musculoskeletal system of the forearm with 3 flexor and 2 extensor muscles, we developed an optimization process to determine the muscle fibre pre-stretches for an initial arm position, which is given human dataset...

BACKGROUND AND AIMS: A three-dimensional electroanatomic mapping system-guided transseptal puncture (3D-TSP), without fluoroscopy or echocardiography, was insufficiently reported. Indications for 3D-TSP remain unclear. This study aimed to establish a precise technique and create a workflow for validating and selecting eligible patients for fluoroless 3D-TSP. METHODS AND RESULTS: We developed a new methodology for 3D-TSP based on the unipolar electrogram derived from transseptal needle tip (UEGM-tip) in 102 cases (the derivation cohort) with intracardiac echocardiography (ICE) from March 2018 to February 2019...

The purpose of this study was to compare single- and multi-frequency bioimpedance (BIA) devices against dual energy X-ray absorptiometry (DXA) for appendicular lean mass (ALM) and muscle quality index (MQI) metrics in Hispanic adults. One-hundred thirty-one Hispanic adults (18-55 yrs.) participated in this study. ALM was measured with single-frequency (SFBIA), multi-frequency (MFBIA), and DXA. ALMTOTAL (left arm + right arm + left leg + right leg) and ALMARMS (left arm + right arm) were computed for all three devices...

AIMS: Rotator cuff (RC) injuries are characterized by tendon rupture, muscle atrophy, retraction, and fatty infiltration, which increase injury severity and jeopardize adequate tendon repair. Epigenetic drugs, such as histone deacetylase inhibitors (HDACis), possess the capacity to redefine the molecular signature of cells, and they may have the potential to inhibit the transformation of the fibro-adipogenic progenitors (FAPs) within the skeletal muscle into adipocyte-like cells, concurrently enhancing the myogenic potential of the satellite cells...

BACKGROUND/PURPOSE: It is unclear about whether the oral health has impact on physical performance. Therefore, this study aimed to examine the association between oral health and physical performance in 300 military adults in Taiwan. MATERIALS AND METHODS: Oral health was assessed by the presence of periodontitis and dental caries. The status of cardiorespiratory and muscular endurance capacity was respectively assessed by tertiles of time for a 3000-m run and 2-min push-up numbers...

Collagen VI-related dystrophies (COL6-RDs) are a group of severe, congenital-onset muscular dystrophies for which there is no effective causative treatment. Dominant-negative mutations are common in COL6A1 , COL6A2 , and COL6A 3 genes, encoding the collagen α1, α2, and α3 (VI) chains. They act by incorporating into the hierarchical assembly of the three α (VI) chains and consequently produce a dysfunctional collagen VI extracellular matrix, while haploinsufficiency for any of the COL6 genes is not associated with disease...

This study aimed to establish the relationship between the appendicular muscle mass index (AMMI), assessed from anthropometric variables, and the physical function of older people. Seventy-six older people participated in this study (72.03 ± 7.03 years). The participants underwent evaluations to determine their AMMI using anthropometry (weight, calf circumference, hip circumference, and knee height) and manual grip strength. Additionally, their physical function was evaluated using the 5-chair stand test, the 3-meter walk test, and the timed up and go test (TUG) to determine the strength of the lower limbs, the gait speed, and the dynamic balance, respectively...

BACKGROUND: Population aging might increase the prevalence of undernutrition in older people, which increases the risk of frailty. Numerous studies have indicated that myokines are released by skeletal myocytes in response to muscular contractions and might be associated with frailty. This study aimed to evaluate whether myokines are biomarkers of frailty in older inpatients with undernutrition. METHODS: The frailty biomarkers were extracted from the Gene Expression Omnibus and Genecards datasets...

BACKGROUND: Carnitine palmitoyltransferase II (CPT II) deficiency is a rare inborn error of mitochondrial fatty acid metabolism with autosomal recessive pattern of inheritance. Its phenotype is highly variable (neonatal, infantile, and adult onset) on the base of mutations of the CPT II gene. In affected subjects, long-chain acylcarnitines cannot be subdivided into carnitine and acyl-CoA, leading to their toxic accumulation in different organs. Neonatal form is the most severe, and all the reported patients died within a few days to 6 months after birth...

BACKGROUND: Pseudoachalasia is a rare disease that behaves similarly to achalasia (AC), making it sometimes difficult to differentiate. CASE PRESENTATION: We report a case of 49-year-old male with adenocarcinoma of the gastroesophageal junction misdiagnosed as achalasia. No obvious abnormalities were found in his initial examinations including upper digestive endoscopy, upper gastrointestinal imaging and chest computed tomography (CT). During the subsequent introduced-peroral endoscopic myotomy (POEM), it was found that the mucosal layer and the muscular layer had severe adhesion, which did not receive much attention, delayed the clear diagnosis and effect treatment, and ultimately led to a poor prognosis for the patient...

In this study, unipolar myomectomy was used to address limited neck movement and tight muscles in pediatric, adolescent, and adult patients. A retrospective chart review was performed for patients from January 2006 to February 2023, who were diagnosed with congenital muscular torticollis and underwent a unipolar myomectomy. Outcome evaluation, adapted from the Cheng and Tang system - cervicomandibular angle (CMA), facial asymmetry, cranial asymmetry, tilting limitation (TL), rotation limitation (RL), subjective assessment, and residual contracture - included various parameters scored from 0 to 3 points and categorized as poor, fair, good, or excellent...

Developing a low-protein feed is important for the sustainable advancement of aquaculture. The aim of this study was to investigate the effects of essential amino acid (EAA) supplementation in a low-protein diet on the growth, intestinal health, and microbiota of the juvenile blotched snakehead, Channa maculata in an 8-week trial conducted in a recirculating aquaculture system. Three isoenergetic diets were formulated to include a control group (48.66 % crude protein (CP), HP), a low protein group (42.54 % CP, LP), and a low protein supplementation EAA group (44...

AIMS: Classification of spinal muscular atrophy (SMA) is associated with the clinical prognosis; however, objective classification markers are scarce. This study aimed to identify metabolic markers in the cerebrospinal fluid (CSF) of children with SMA types II and III. METHODS: CSF samples were collected from 40 patients with SMA (27 with type II and 13 with type III) and analyzed for metabolites. RESULTS: We identified 135 metabolites associated with SMA types II and III...

Currently, nine polyglutamine (polyQ) expansion diseases are known. They include spinocerebellar ataxias (SCA1, 2, 3, 6, 7, 17), spinal and bulbar muscular atrophy (SBMA), dentatorubral-pallidoluysian atrophy (DRPLA), and Huntington's disease (HD). At the root of these neurodegenerative diseases are trinucleotide repeat mutations in coding regions of different genes, which lead to the production of proteins with elongated polyQ tracts. While the causative proteins differ in structure and molecular mass, the expanded polyQ domains drive pathogenesis in all these diseases...

Dysferlin is a 237 kDa membrane-associated protein characterised by multiple C2 domains with a diverse role in skeletal and cardiac muscle physiology. Mutations in DYSF are known to cause various types of human muscular dystrophies, known collectively as dysferlinopathies, with some patients developing cardiomyopathy. A myriad of in vitro membrane repair studies suggest that dysferlin plays an integral role in the membrane repair complex in skeletal muscle. In comparison, less is known about dysferlin in the heart, but mounting evidence suggests that dysferlin's role is similar in both muscle types...

The use of specific antibodies in inflammatory myopathies has improved the characterization of this disease, identifying different clinical phenotypes. Patients with dermatomyositis (DM) and anti-MDA5 antibodies display typical skin symptoms, lesser muscular involvement, and a prevalence of interstitial lung disease (ILD) of up to 91%. Beyond ILD, spontaneous pneumomediastinum (SN) has been identified as a rare but potentially fatal pulmonary manifestation. Two cases of this complication in patients with anti-MDA5 DM are reported...

BACKGROUND: X-linked dystrophin-deficient muscular dystrophy (MD) is a form of MD caused by variants in the DMD gene. It is a fatal disease characterized by progressive weakness and degeneration of skeletal muscles. HYPOTHESIS/OBJECTIVES: Identify deleterious genetic variants in DMD by whole-genome sequencing (WGS) using a next-generation sequencer. ANIMALS: One MD-affected cat, its parents, and 354 cats from a breeding colony. METHODS: We compared the WGS data of the affected cat with data available in the National Center for Biotechnology Information database and searched for candidate high-impact variants by in silico analyses...

UNLABELLED: Breast cancer (BC) is one of the most common cancers in the United States. Advances in detection and treatment have resulted in an increased survival rate, meaning an increasing population experiencing declines in muscle mass and strength. Creatine supplementation has consistently demonstrated improvements in strength and muscle performance in older adults, though these findings have not been extended to cancer populations. PURPOSE: The purpose of this study was to investigate the effects of short-term creatine supplementation on muscular performance in BC survivors...

The objective of this study is to evaluate biomarkers for neurodegenerative disorders in adult SMA patients and their potential for monitoring the response to nusinersen. Biomarkers for neurodegenerative disorders were assessed in plasma and CSF samples obtained from a total of 30 healthy older adult controls and 31 patients with adult SMA type 2 and 3. The samples were collected before and during nusinersen treatment at various time points, approximately at 2, 6, 10, and 22 months. Using ELISA technology, the levels of total tau, pNF-H, NF-L, sAPPβ, Aβ40, Aβ42, and YKL-40 were evaluated in CSF samples...