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muscular disease

Cristina Cadenas-Sanchez, Timm Intemann, Idoia Labayen, Ana B Peinado, Josep Vidal-Conti, Joaquin Sanchis-Moysi, Diego Moliner-Urdiales, Manuel A Rodriguez Perez, Jorge Cañete Garcia-Prieto, Jorge Del Rosario Fernández-Santos, Borja Martinez-Tellez, Germán Vicente-Rodríguez, Marie Löf, Jonatan R Ruiz, Francisco B Ortega
OBJECTIVES: Reference values are necessary for classifying children, for health screening, and for early prevention as many non-communicable diseases aggravate during growth and development. While physical fitness reference standards are available in children aged 6 and older, such information is lacking in preschool children. Therefore, the purposes of this study were (1) to provide sex-and age-specific physical fitness reference standards for Spanish preschool children; and (2) to study sex differences across this age period and to characterise fitness performance throughout the preschool period...
September 20, 2018: Journal of Science and Medicine in Sport
Sae-Il Murtada, Jay D Humphrey
Vasoconstriction and vasodilation play important roles in the circulatory system and can be regulated through different pathways that depend on myriad biomolecules. These different pathways reflect the various functions of smooth muscle cell (SMC) contractility within the different regions of the arterial tree and how they contribute to both the mechanics and the mechanobiology. Here, we review the primary regulatory pathways involved in SMC contractility and highlight their regional differences in elastic, muscular, and resistance arteries...
2018: Advances in Experimental Medicine and Biology
Angus Lindsay, Preston M McCourt, Peter Karachunski, Dawn A Lowe, James M Ervasti
Generation of superoxide by xanthine oxidase can be stimulated under ischemic and aberrant calcium homeostasis. Because patients and mice with Duchenne muscular dystrophy (DMD) suffer from ischemia and excessive calcium influx, we tested the hypothesis that xanthine oxidase activity is elevated and contributes to disease pathology. Xanthine oxidase activity was measured by urinary isoxanthopterin in DMD patients at rest and in response to exercise. Urinary isoxanthopterin/creatinine was elevated compared to age-matched controls and Becker muscular dystrophy (BMD) patients...
October 9, 2018: Free Radical Biology & Medicine
Leo H Wang, Seth D Friedman, Dennis Shaw, Lauren Snider, Chao-Jen Wong, Chris B Budech, Sandra L Poliachik, Nancy E Gove, Leann M Lewis, Amy E Campbell, Richard J F L Lemmers, Silvère M Maarel, Stephen J Tapscott, Rabi N Tawil
Facioscapulohumeral muscular dystrophy (FSHD) is a common, dominantly inherited disease caused by the epigenetic de-repression of the DUX4 gene, a transcription factor normally repressed in skeletal muscle. As targeted therapies are now possible in FSHD, a better understanding of the relationship between DUX4 activity, muscle pathology and muscle MRI changes are crucial both to understand disease mechanisms and for the design of future clinical trials. Here, we performed MRIs of the lower extremities in 36 individuals with FSHD, followed by needle muscle biopsies in safely accessible muscles...
October 12, 2018: Human Molecular Genetics
Mei Li Ng, Nagendra S Yarla, Mario Menschikowski, Olga A Sukocheva
Balanced sphingolipid signaling is important for the maintenance of homeostasis. Sphingolipids were demonstrated to function as structural components, second messengers, and regulators of cell growth and survival in normal and disease-affected tissues. Particularly, sphingosine kinase 1 (SphK1) and its product sphingosine-1-phosphate (S1P) operate as mediators and facilitators of proliferation-linked signaling. Unlimited proliferation (self-renewal) within the regulated environment is a hallmark of progenitor/stem cells that was recently associated with the S1P signaling network in vasculature, nervous, muscular, and immune systems...
September 26, 2018: World Journal of Stem Cells
Anna Pakula, Angela Lek, Jeffrey Widrick, Hiroaki Mitsuhashi, Katlynn M Bugda Gwilt, Vandana M Gupta, Fedik Rahimov, June Criscione, Yuanfan Zhang, Devin Gibbs, Quinn Murphy, Anusha Manglik, Lillian Mead, Louis Kunkel
Facioscapulohumeral dystrophy Type 1 (FSHD-1) is the most common autosomal dominant form of muscular dystrophy with a prevalence of approximately 1 in 8,000 individuals. It is considered a late-onset form of muscular dystrophy and leads to asymmetric muscle weakness in the facial, scapular, trunk and lower extremities. The prevalent hypothesis on disease pathogenesis is explained by misexpression of a germline, primate specific transcription factor DUX4-fl (double homeo-box 4, full-length isoform) linked to the chromosome 4q35...
October 10, 2018: Human Molecular Genetics
Michael J Gait, Andrey A Arzumanov, Graham McClorey, Caroline Godfrey, Corinne Betts, Suzan Hammond, Matthew J A Wood
The review starts with a historical perspective of the achievements of the Gait group in synthesis of oligonucleotides (ONs) and their peptide conjugates toward the award of the 2017 Oligonucleotide Therapeutic Society Lifetime Achievement Award. This acts as a prelude to the rewarding collaborative studies in the Gait and Wood research groups aimed toward the enhanced delivery of charge neutral ON drugs and the development of a series of Arg-rich cell-penetrating peptides called Pip (peptide nucleic acid/phosphorodiamidate morpholino oligonucleotide [PNA/PMO] internalization peptides) as conjugates of such ONs...
October 9, 2018: Nucleic Acid Therapeutics
Jahidur Rashid, Eva Nozik-Grayck, Ivan F McMurtry, Kurt R Stenmark, Fakhrul Ahsan
Currently, dual or triple drug combinations comprising different vasodilators are the mainstay for the treatment of pulmonary arterial hypertension (PAH). But the patient outcome continues to be disappointing because the existing combination therapy cannot restrain progression of the disease. Previously, we have shown that when given as a monotherapy, long-acting inhaled formulations of sildenafil and rosiglitazone ameliorate PAH in rats. Here we prepared and characterized poly(lactic-co-glycolic acid (PLGA)-based long-acting inhalable particles of sildenafil and rosiglitazone...
October 11, 2018: American Journal of Physiology. Lung Cellular and Molecular Physiology
Pascal Amedro, Sophie Guillaumont, Charlene Bredy, Stefan Matecki, Arthur Gavotto
Nearly four decades ago, the World Health Organization stated that functional capacity explorations best reflected the impact of a chronic disease on quality of life. Today, cardio-pulmonary exercise test (CPET) is recommended in the follow-up of patients with congenital heart diseases (CHDs). Indeed, the maximum oxygen uptake (VO2max ) and the ventilatory efficiency (VE/VCO2 slope) correlate with both the prognosis and the quality of life in this population. Atrial septal defects (ASDs) represent the second most frequent CHD and are usually considered as simple CHDs...
September 2018: Journal of Thoracic Disease
Barbara Joschtel, Sjaan R Gomersall, Sean Tweedy, Helen Petsky, Anne B Chang, Stewart G Trost
Introduction: Chronic disease in children is increasing, including the prevalence of chronic respiratory diseases such as asthma, cystic fibrosis (CF), bronchiectasis and bronchopulmonary dysplasia (BPD). The aim of this systematic review and meta-analysis was to evaluate the effects of exercise training on health outcomes in children with chronic respiratory disease. Method: Five databases were searched for randomised controlled trials investigating the effects of exercise training on children with chronic respiratory disease...
2018: BMJ Open Sport & Exercise Medicine
Evelyne M Houang, Yuk Y Sham, Frank S Bates, Joseph M Metzger
The scientific premise, design, and structure-function analysis of chemical-based muscle membrane stabilizing block copolymers are reviewed here for applications in striated muscle membrane injury. Synthetic block copolymers have a rich history and wide array of applications from industry to biology. Potential for discovery is enabled by a large chemical space for block copolymers, including modifications in block copolymer mass, composition, and molecular architecture. Collectively, this presents an impressive chemical landscape to leverage distinct structure-function outcomes...
October 10, 2018: Skeletal Muscle
Alessia Mongelli, Carlo Gaetano
A large body of evidence reports about the positive effects of physical activity in pathophysiological conditions associated with aging. Physical exercise, alone or in combination with other medical therapies, unquestionably causes reduction of symptoms in chronic non-transmissible diseases often leading to significant amelioration or complete healing. The molecular basis of this exciting outcome-however, remain largely obscure. Epigenetics, exploring at the interface between environmental signals and the remodeling of chromatin structure, promises to shed light on this intriguing matter possibly contributing to the identification of novel therapeutic targets...
October 9, 2018: International Journal of Molecular Sciences
Simon Guiraud, Benjamin Edwards, Sarah E Squire, Lee Moir, Adam Berg, Arran Babbs, Nesrine Ramadan, Matthew J Wood, Kay E Davies
Duchenne muscular dystrophy (DMD) is a lethal, X-linked muscle-wasting disease caused by lack of the cytoskeletal protein dystrophin. Constitutive utrophin expression, a structural and functional paralogue of dystrophin, can successfully prevent the dystrophic pathology in the dystrophin-deficient mdx mouse model. In dystrophic muscles, utrophin is increased as part of the repair process and localised at the sarcolemma of regenerating myofibers. The presence of developmental myosin such as embryonic myosin (MyHC-emb) and neonatal (MyHC-neo) represents a useful marker of muscle regeneration and a meaningful indicator of muscle damage which correlates with the clinical severity of milder Becker Muscular dystrophy (BMD) and DMD patients...
October 9, 2018: Human Molecular Genetics
Dilayla K DE Abreu, Janaina M Monteiro, Carolina C Souza, Rafael G Karam, Renata A Fernandes, Thais B Lessa, José J Fagliari, Maria Angelica Miglino, Carlos Eduardo Ambrosio
Duchenne Muscular Dystrophy (DMD) is the most common X-linked muscular disease affecting humans. The Golden Retriever Muscular Dystrophy model (GRMD) is considerthe most suitable for several studies. This assay aims to quantify lymphocyte subpopulations CD4, CD5, and CD8, and standardize, the serum electrophoretic profile, to understand their contribution to the pathologic process in normal Golden Retriever dogs (GR group) and dystrophic´s (GRMD group), through the umbilical cord blood, in dogs aged from 2 to 3 months (GR II and GRMD II), and in dogs over 1 year of age (GR III and GRMD III)...
September 2018: Anais da Academia Brasileira de Ciências
Nicole Hellbach, Suzanne Peterson, Daniel Haehnke, Aditi Shankar, Samuel LaBarge, Cullen Pivaroff, Stefanie Saenger, Carolin Thomas, Kathleen McCarthy, Martin Ebeling, Monica Hayhurst Bennett, Uli Schmidt, Friedrich Metzger
Spinal muscular atrophy (SMA) is a severe genetic disorder that manifests in progressive neuromuscular degeneration. SMA originates from loss-of-function mutations of the SMN1 (Survival of Motor Neuron 1) gene. Recent evidence has implicated peripheral deficits, especially in skeletal muscle, as key contributors to disease progression in SMA. In this study we generated myogenic cells from two SMA-affected human embryonic stem cell (hESC) lines with deletion of SMN1 bearing two copies of the SMN2 gene and recapitulating the molecular phenotype of Type 1 SMA...
2018: PloS One
Gethsy Jayaseelan, Paul N Bennett, Wendi Bradshaw, Wei Wang, Helen Rawson
Negative perceptions of people receiving hemodialysis towards exercise have been proposed as barriers to exercise. The aims of this study were to explore perceptions of patients on hemodialysis concerning exercise and to investigate whether exposure to an exercise program was associated with patients' perceptions. Participants (n=274) from 10 hemodialysis clinics completed an adapted English-language version of the Dialysis Patient-Perceived Exercise Benefits and Barriers Scale. Most patients agreed that exercise was positive towards preventing muscular wasting, bone disease, keeping body weight at a steady level, improving mood and quality of life, and enhancing their selfcare activities...
March 2018: Nephrology Nursing Journal: Journal of the American Nephrology Nurses' Association
Shu Hu, Gianni Belcaro, Andrea Ledda, Marcello Corsi, Roberto Cotellese, Beatrice Feragalli, Morio Hosoi, Mark Dugall, Patrizia Torino-Rodriguez, Maria R Cesarone
BACKGROUND: Infectious mononucleosis (IM) is a common disease of adolescents and young adults, characterized by a specific triad of symptoms represented by fever, sore throat and lymphadenopathy. IM may also affect older adults, with different, more intense signs and symptoms such as fatigue, general malaise, and diffuse body pain. The aim of this four-week-registry was to evaluate the effects of Robuvit® supplementation on the main consequences of mononucleosis, particularly fatigue, in otherwise healthy adults...
October 2018: Minerva Pediatrica
Jinghan Chen, Sung-Hee Yoon, Marc D Grynpas, Jane Mitchell
Duchenne muscular dystrophy (DMD) is an X-linked disease of progressive muscle deterioration and weakness. Patients with DMD have poor bone health which is partly due to treatment with glucocorticoids, a standard therapy to prolong muscle function that also induces bone loss. Bisphosphonates are used to treat adults at risk of glucocorticoid-induced osteoporosis but are not currently used in DMD patients until after they sustain fractures. In this study, C57BL/10ScSn-mdx mice, a commonly used DMD animal model, received continuous glucocorticoid, prednisone treatment (0...
October 9, 2018: Calcified Tissue International
Selva Kabul, Nesrin Uğraş, Ömer Yerci, Ersin Öztürk
Enteropathy-associated T cell lymphoma is a rare lymphoma specific to the gastrointestinal system, arising from intraepithelial T lymphocytes, that is often associated with celiac disease. We report a 53-year-old female patient with no previous disease who presented with severe abdominal pain. Physical examination revealed diffuse abdominal tenderness and abdominal guarding and the patient underwent emergency surgery with a diagnosis of acute abdomen. During the operation, a 20-cm mass was found located on Treitz ligament, invading the duodenum and pancreatic head and perforating the jejunum...
2018: Turkish Journal of Surgery
Leonardo Diniz Correa Pinto, Cláudia Helena Ribeiro da Silva, Pedro Marcos Silva E Gonçalves, Roberto José Valadares
BACKGROUND AND OBJECTIVES: Ultrasound-guided upper limb blocks may provide great benefits to patients with serious diseases. Patients with Steinert's disease have muscle weakness and risk of triggering myotomy or malignant hyperthermia due to the use of anesthetic agents and surgical stress. The objective of this report was to demonstrate a viable alternative for clavicle fracture surgery with upper trunk and supraclavicular nerve block, thus reducing the spread of local anesthetic to the phrenic nerve in a patient with muscular dystrophy...
October 6, 2018: Revista Brasileira de Anestesiologia
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