keyword
https://read.qxmd.com/read/38533084/forward-genetic-screen-using-a-gene-breaking-trap-approach-identifies-a-novel-role-of-grin2bb-associated-rna-transcript-grin2bbart-in-zebrafish-heart-function
#1
JOURNAL ARTICLE
Ramcharan Singh Angom, Adita Joshi, Ashok Patowary, Ambily Sivadas, Soundhar Ramasamy, Shamsudheen K V, Kriti Kaushik, Ankit Sabharwal, Mukesh Kumar Lalwani, Subburaj K, Naresh Singh, Vinod Scaria, Sridhar Sivasubbu
LncRNA-based control affects cardiac pathophysiologies like myocardial infarction, coronary artery disease, hypertrophy, and myotonic muscular dystrophy. This study used a gene-break transposon (GBT) to screen zebrafish ( Danio rerio ) for insertional mutagenesis. We identified three insertional mutants where the GBT captured a cardiac gene. One of the adult viable GBT mutants had bradycardia (heart arrhythmia) and enlarged cardiac chambers or hypertrophy; we named it "bigheart." Bigheart mutant insertion maps to grin2bb or N-methyl D-aspartate receptor (NMDAR2B) gene intron 2 in reverse orientation...
2024: Frontiers in Cell and Developmental Biology
https://read.qxmd.com/read/38525282/the-effect-of-flywheel-complex-training-with-eccentric-overload-on-muscular-adaptation-in-elite-female-volleyball-players
#2
JOURNAL ARTICLE
Jiaoqin Wang, Qiang Zhang, Wenhui Chen, Honghao Fu, Ming Zhang, Yongzhao Fan
This study aimed to compare the effects of 8 weeks (24 sessions) between flywheel complex training with eccentric overload and traditional complex training of well-trained volleyball players on muscle adaptation, including hypertrophy, strength, and power variables. Fourteen athletes were recruited and randomly divided into the flywheel complex training with an eccentric-overload group (FCTEO, n  = 7) and the control group (the traditional complex training group, TCT, n  = 7). Participants performed half-squats using a flywheel device or Smith machine and drop jumps, with three sets of eight repetitions and three sets of 12 repetitions, respectively...
2024: PeerJ
https://read.qxmd.com/read/38474074/a-novel-rat-model-of-mild-pulmonary-hypertension-associated-with-pulmonary-venous-congestion-induced-by-left-pulmonary-vein-banding
#3
JOURNAL ARTICLE
Jonas Münks, Athiththan Yogeswaran, Tobiah Kevin Antoine, Leonhard Anton Blumrich, Peter Dorfmüller, Hossein Ardeschir Ghofrani, Birgit Assmus, Ralph Theo Schermuly, Akylbek Sydykov
Pulmonary hypertension (PH) associated with left heart disease (PH-LHD) is the most common form of PH. In PH-LHD, changes in the pulmonary vasculature are assumed to be mainly caused by pulmonary venous congestion. However, the underlying mechanisms of this form of PH are poorly understood. We aimed to establish a model of PH associated with pulmonary venous congestion. Wistar-Kyoto rats underwent partial occlusion of the left pulmonary vein to induce pulmonary venous congestion or sham surgery and were assessed at various time points post-surgery (3, 6, 9, 12 weeks)...
February 29, 2024: International Journal of Molecular Sciences
https://read.qxmd.com/read/38474032/de-novo-p-asp3368gly-variant-of-dystrophin-gene-associated-with-x-linked-dilated-cardiomyopathy-and-skeletal-myopathy-clinical-features-and-in-silico-analysis
#4
Maria d'Apolito, Alessandra Ranaldi, Francesco Santoro, Sara Cannito, Matteo Gravina, Rosa Santacroce, Ilaria Ragnatela, Alessandra Margaglione, Giovanna D'Andrea, Grazia Casavecchia, Natale Daniele Brunetti, Maurizio Margaglione
Dystrophin ( DMD ) gene mutations are associated with skeletal muscle diseases such as Duchenne and Becker Muscular Dystrophy (BMD) and X-linked dilated cardiomyopathy (XL-DCM). To investigate the molecular basis of DCM in a 37-year-old woman. Clinical and genetic investigations were performed. Genetic testing was performed with whole exome sequencing (WES) using the Illumina platform. According to the standard protocol, a variant found by WES was confirmed in all available members of the family by bi-directional capillary Sanger resequencing...
February 28, 2024: International Journal of Molecular Sciences
https://read.qxmd.com/read/38473107/variants-in-clcn1-and-pde4c-associated-with-muscle-hypertrophy-dysphagia-and-gait-abnormalities-in-young-french-bulldogs
#5
JOURNAL ARTICLE
G Diane Shelton, James R Mickelson, Steven G Friedenberg, Jonah N Cullen, Karina Graham, Missy C Carpentier, Ling T Guo, Katie M Minor
(1) Background: Muscle hypertrophy, swallowing disorders, and gait abnormalities are clinical signs common to many muscle diseases, including muscular dystrophies, non-dystrophic myotonias, genetic myopathies associated with deficiency of myostatin, and acquired inflammatory myopathies. Here, we investigated underlying causes of this triad of clinical signs in four young French bulldogs via muscle histopathology coupled with whole genome and Sanger sequencing. (2) Methods: Dogs were evaluated by veterinary clinical internists and neurologists, and biopsies were obtained for histopathological diagnosis...
February 25, 2024: Animals: An Open Access Journal From MDPI
https://read.qxmd.com/read/38469025/autosomal-recessive-myotonia-congenita-in-an-adolescent-boy-with-novel-mutation-a-case-report-with-discussion-on-management
#6
Palash Das, Debasis Panigrahi
Congenital myotonia represents a rare group of genetically inherited conditions. It can be either autosomal dominant (Thomsen) or autosomal recessive (Becker). It is characterized by muscular hypertrophy, proximal weakness, and myotonia, or impaired relaxation after contraction. These are due to mutations in the CLC1 gene. A 14-year-old male child presented with complaints of gradually progressive weakness for five years. Weakness was more pronounced in the proximal muscle groups. The weakness worsened after rest and improved with activity...
February 2024: Curēus
https://read.qxmd.com/read/38457407/beneficial-effects-of-resistance-training-on-both-mild-and-severe-mouse-dystrophic-muscle-function-as-a-preclinical-option-for-duchenne-muscular-dystrophy
#7
JOURNAL ARTICLE
Medhi Hassani, Dylan Moutachi, Mégane Lemaitre, Alexis Boulinguiez, Denis Furling, Onnik Agbulut, Arnaud Ferry
Mechanical overloading (OVL) resulting from the ablation of muscle agonists, a supra-physiological model of resistance training, reduces skeletal muscle fragility, i.e. the immediate maximal force drop following lengthening contractions, and increases maximal force production, in mdx mice, a murine model of Duchene muscular dystrophy (DMD). Here, we further analyzed these beneficial effects of OVL by determining whether they were blocked by cyclosporin, an inhibitor of the calcineurin pathway, and whether there were also observed in the D2-mdx mice, a more severe murine DMD model...
2024: PloS One
https://read.qxmd.com/read/38444765/body-morphology-and-handgrip-strength-parameters-of-the-female-canoe-slalom-paddlers
#8
JOURNAL ARTICLE
Jan Busta, Jaroslav Hellebrand, Ivana Kinkorová, Andrea Duchoňová, Tereza Hybská, Carmen Costa Sánchez, Matej Vajda
Introduction: Canoe slalom is a physically very demanding discipline, in which body constitution, body composition, and relative strength are significant factors in high performance. Although anthropometric and strength parameters are relatively well-studied in male athletes, there is a lack of evidence for any conclusions in women. Therefore, the objective of this study was to determine the morphology and upper-limb strength parameters of female canoe slalom paddlers and identify whether morphological differences exist between performance groups...
2024: Frontiers in Physiology
https://read.qxmd.com/read/38439777/hypertrophy-training-following-a-total-hip-replacement-a-literature-review
#9
Tyson Bull, Andrew Erzen, John O'Donnell, Michael Rafla, David Georgy, Mia Bailey, Amir Takla
Hip OA is becoming more common, with a greater number of younger individuals undergoing total hip arthroplasty (THA). These individuals have the desire to return to considerable loading and in some instances return to sport. The purpose of this review was to investigate the current guidelines and/or protocols for hypertrophy or strengthening in individuals who have undergone total hip arthroplasty. A total of 16 papers were identified, some of which also addressed total knee arthroplasty. There is no consensus for the best practice for a hypertrophy program following THA especially regarding when a direct anterior approach was used during hip arthroplasty...
2024: International Journal of Sports Physical Therapy
https://read.qxmd.com/read/38393985/similar-muscle-hypertrophy-following-eight-weeks-of-resistance-training-to-momentary-muscular-failure-or-with-repetitions-in-reserve-in-resistance-trained-individuals
#10
JOURNAL ARTICLE
Martin C Refalo, Eric R Helms, Zac P Robinson, D Lee Hamilton, Jackson J Fyfe
This study examined the influence of resistance training (RT) proximity-to-failure, determined by repetitions-in-reserve (RIR), on quadriceps hypertrophy and neuromuscular fatigue. Resistance-trained males ( n = 12) and females ( n = 6) completed an 8-week intervention involving two RT sessions per week. Lower limbs were randomised to perform the leg press and leg extension exercises either to i) momentary muscular failure (FAIL), or ii) a perceived 2-RIR and 1-RIR, respectively (RIR). Muscle thickness of the quadriceps [rectus femoris (RF) and vastus lateralis (VL)] and acute neuromuscular fatigue (i...
February 23, 2024: Journal of Sports Sciences
https://read.qxmd.com/read/38385637/changes-in-muscular-strength-following-nine-weeks-of-high-or-low-load-resistance-training
#11
JOURNAL ARTICLE
Marissa L Bello, Zachary M Gillen, JohnEric W Smith
BACKGROUND: Traditional resistance training schemes often utilize higher loads for strength gains and lower loads for muscular endurance or hypertrophy. This study aimed to investigate muscular strength adaptations after nine weeks of high- or low-load resistance training. METHODS: Seventeen recreationally-trained male lifters were recruited for this study (age 20.4±2.7 years) and split into high-load (85% 1-RM; N.=8) or low-load (30% 1-RM; N.=9), completing three whole-body training sessions per week for nine weeks...
February 21, 2024: Journal of Sports Medicine and Physical Fitness
https://read.qxmd.com/read/38375595/a-novel-interaction-between-aquaporin-1-and-caspase-3-in-pulmonary-arterial-smooth-muscle-cells
#12
JOURNAL ARTICLE
Shannon Niedermeyer, Xin Yun, Marielena Trujillo, Haiyang Jiang, Manuella R Andrade, Todd M Kolb, Karthik Suresh, Mahendra Damarla, Larissa A Shimoda
Pulmonary hypertension (PH) is a condition in which remodeling of the pulmonary vasculature leads to hypertrophy of the muscular vascular wall and extension of muscle into non-muscular arteries. These pathologic changes are predominantly due to abnormal proliferation and migration of pulmonary arterial smooth muscle cells (PASMCs), enhanced cellular functions that have been linked to increases in the cell membrane protein aquaporin-1 (AQP1). However, the mechanisms underlying increased AQP1 abundance have not been fully elucidated...
February 20, 2024: American Journal of Physiology. Lung Cellular and Molecular Physiology
https://read.qxmd.com/read/38338578/muscle-hypertrophy-is-linked-to-changes-in-the-oxidative-and-proteolytic-systems-during-early-tenderization-of-the-spanish-breed-asturiana-de-los-valles
#13
JOURNAL ARTICLE
Marina García-Macia, Verónica Sierra, Adrián Santos-Ledo, Beatriz de Luxán-Delgado, Yaiza Potes-Ochoa, Susana Rodríguez-González, Mamen Oliván, Ana Coto-Montes
For fresh meat consumers, eating satisfaction is of utmost importance and tenderness is one of the most important characteristics in this regard. Our study examined beef of different animal biotypes of the autochthonous breed "Asturiana de los Valles" (AV) to determine if early postmortem oxidative and proteolytic processes may influence the final tenderness of the product. This meat-specialized breed shows different biotypes depending on the frequency of a myostatin mutation " mh " that induces double-muscling or muscular hypertrophy ( mh / mh , mh /+, +/+)...
January 30, 2024: Foods (Basel, Switzerland)
https://read.qxmd.com/read/38306719/an-up-to-date-myopathologic-characterisation-of-facioscapulohumeral-muscular-dystrophy-type-1-muscle-biopsies-shows-sarcolemmal-complement-membrane-attack-complex-deposits-and-increased-skeletal-muscle-regeneration
#14
JOURNAL ARTICLE
Lisanne Hubregtse, Karlijn Bouman, Chéryane Lama, Saskia Lassche, Nicolas de Graaf, Valentina Taglietti, Benno Küsters, Baptiste Periou, Frédéric Relaix, Baziel van Engelen, François-Jerôme Authier, Nicol C Voermans, Edoardo Malfatti
The aim of this study was to identify key routinely used myopathologic biomarkers of FSHD1. Needle muscle biopsies were taken in 34 affected muscles (m. quadriceps femoris (QF), n = 20, m. tibialis anterior (TA), n = 13, m. biceps brachii, n = 1) from 22 patients (age, 53.5 (10) years; M = 12, F = 10). Eleven patients had more than one biopsy (2xQF, n = 1; QF+TA, n = 9; 2xQF+TA, n = 1). Histochemistry, immunoperoxidase, and immunofluorescence stainings were performed and compared to age and muscle type matched muscle specimens of 11 healthy controls...
March 2024: Neuromuscular Disorders: NMD
https://read.qxmd.com/read/38303044/a-female-patient-carrying-a-novel-dmd-mutation-with-non-random-x-chromosome-inactivation-from-a-dmd-family
#15
JOURNAL ARTICLE
Ming-Xia Sun, Miao Jing, Ying Hua, Jian-Biao Wang, Sheng-Quan Wang, Li-Lan Chen, Liang Ju, Yan-Shan Liu
OBJECTIVE: To analyze the clinical phenotype and genetic characteristics of a female proband carrying a novel mutation in the DMD gene with non-random X-chromosome inactivation in a large pedigree with pseudohypertrophic muscular dystrophy. METHODS: Clinical information of the female proband, her monozygotic twin sister, and other family members were collected. Potential pathogenic variants were detected with Multiplex Ligation-dependent Probe Amplification (MLPA) and whole-exome sequencing (WES)...
February 1, 2024: BMC Medical Genomics
https://read.qxmd.com/read/38281621/calmodulin-mutation-in-long-qt-syndrome-15-associated-with-congenital-heart-defects-further-complicated-by-a-functional-2-1-atrioventricular-block-management-from-foetal-life-to-postpartum
#16
Elio Caruso, Silvia Farruggio, Paolo Guccione
We report a long QT syndrome 15 whose diagnosis was suspected during foetal life and confirmed at birth and was associated with congenital heart disease. Genetic testing revealed a rare mutation associated with the CALM2 gene. At 23 weeks of gestation, severe foetal sinus bradycardia (∼100 bpm) was detected. In the third trimester, the foetus developed severe right ventricular hypertrophy. At birth, the electrocardiogram showed a long QT interval of 640 ms, and after 1 hour, the newborn showed functional 2:1 atrioventricular block at ventricular rate of 50 bpm...
January 26, 2024: Indian Pacing and Electrophysiology Journal
https://read.qxmd.com/read/38274324/gaining-more-from-doing-less-the-effects-of-a-one-week-deload-period-during-supervised-resistance-training-on-muscular-adaptations
#17
JOURNAL ARTICLE
Max Coleman, Ryan Burke, Francesca Augustin, Alec Piñero, Jaime Maldonado, James P Fisher, Michael Israetel, Patroklos Androulakis Korakakis, Paul Swinton, Douglas Oberlin, Brad J Schoenfeld
BACKGROUND: Based on emerging evidence that brief periods of cessation from resistance training (RT) may re-sensitize muscle to anabolic stimuli, we aimed to investigate the effects of a 1-week deload interval at the midpoint of a 9-week RT program on muscular adaptations in resistance-trained individuals. METHODS: Thirty-nine young men ( n  = 29) and women ( n  = 10) were randomly assigned to 1 of 2 experimental, parallel groups: An experimental group that abstained from RT for 1 week at the midpoint of a 9-week, high-volume RT program (DELOAD) or a traditional training group that performed the same RT program continuously over the study period (TRAD)...
2024: PeerJ
https://read.qxmd.com/read/38267713/left-ventricular-concentric-hypertrophy-with-cardiac-magnetic-resonance-imaging-improves-risk-stratification-in-patients-with-duchenne-muscular-dystrophy-a-prospective-cohort-study
#18
JOURNAL ARTICLE
Wei-Feng Yuan, Li Yu, Ke Xu, Rong Xu, Hang Fu, Yu Song, Zi-Qi Zhou, Ting Xu, Xiao-Tang Cai, Ying-Kun Guo, Hua-Yan Xu
BACKGROUND: The development of left ventricular (LV) remodeling has been associated with an increased cardiovascular risk and cardiogenic death, and different patterns of remodeling result in varying levels of prognosis. OBJECTIVE: To investigate the association between different patterns of LV remodeling and clinical outcomes in the preclinical stage of patients with Duchenne muscular dystrophy (DMD). MATERIALS AND METHODS: A total of 148 patients with DMD and 43 sex- and age-matched healthy participants were enrolled...
January 25, 2024: Pediatric Radiology
https://read.qxmd.com/read/38255821/functional-roles-of-cd26-dpp4-in-bleomycin-induced-pulmonary-hypertension-associated-with-interstitial-lung-disease
#19
JOURNAL ARTICLE
Tadasu Okaya, Takeshi Kawasaki, Shun Sato, Yu Koyanagi, Koichiro Tatsumi, Ryo Hatano, Kei Ohnuma, Chikao Morimoto, Yoshitoshi Kasuya, Yoshinori Hasegawa, Osamu Ohara, Takuji Suzuki
Pulmonary hypertension (PH) with interstitial lung diseases (ILDs) often causes intractable conditions. CD26/Dipeptidyl peptidase-4 (DPP4) is expressed in lung constituent cells and may be related to the pathogenesis of various respiratory diseases. We aimed to clarify the functional roles of CD26/DPP4 in PH-ILD, paying particular attention to vascular smooth muscle cells (SMCs). Dpp4 knockout ( Dpp4 KO) and wild type (WT) mice were administered bleomycin (BLM) intraperitoneally to establish a PH-ILD model...
January 6, 2024: International Journal of Molecular Sciences
https://read.qxmd.com/read/38252891/induced-pluripotent-stem-cell-derived-exosomes-attenuate-vascular-remodelling-in-pulmonary-arterial-hypertension-by-targeting-hif-1%C3%AE-and-runx2
#20
JOURNAL ARTICLE
Pei-Ling Chi, Chin-Chang Cheng, Mei-Tzu Wang, Jia-Bin Liao, Shu-Hung Kuo, Kun-Chang Lin, Min-Ci Shen, Wei-Chun Huang
AIMS: Pulmonary arterial hypertension (PAH) is characterized by extensive pulmonary arterial remodelling. Although mesenchymal stem cell (MSC)-derived exosomes provide protective effects in PAH, MSCs exhibit limited senescence during in vitro expansion compared with the induced pluripotent stem cells (iPSCs). Moreover, the exact mechanism is not known. METHODS AND RESULTS: In this study, we used murine iPSCs generated from mouse embryonic fibroblasts with triple factor (Oct4, Klf4, and Sox2) transduction to determine the efficacy and action mechanism of iPSC-derived exosomes (iPSC-Exo) in attenuating PAH in rats with monocrotaline (MCT)-induced pulmonary hypertension...
January 22, 2024: Cardiovascular Research
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