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muscular disease

Elena Abati, Nereo Bresolin, Giacomo Pietro Comi, Stefania Corti
Despite the extensive research effort that has been made in the field, motor neuron diseases, namely, amyotrophic lateral sclerosis and spinal muscular atrophies, still represent an overwhelming cause of morbidity and mortality worldwide. Exogenous neural stem cell-based transplantation approaches have been investigated as multifaceted strategies to both protect and repair upper and lower motor neurons from degeneration and inflammation. Transplanted neural stem cells (NSCs) exert their beneficial effects not only through the replacement of damaged cells but also via bystander immunomodulatory and neurotrophic actions...
August 17, 2018: Molecular Neurobiology
Peng Liu, Yinjie Li, Danyang Liu, Xuefei Ji, Tianyan Chi, Lin Li, Libo Zou
Tolfenamic acid (TA), a nonsteroidal anti-inflammatory drug, shows neuroprotective effects and alleviates cognitive deficits in transgenic mouse models of Alzheimer's disease. However, whether TA can prevent the biochemical alterations induced by intraperitoneal injection of 3-nitropropionic acid (3-NP) in mice is still unknown. In this study, the striatal lesion area was measured by 2,3,5-triphenyltetrazolium chloride staining. Glutamate, SDH and ATP levels were tested using colorimetric assay kits. The neuroinflammatory cytokine levels were tested by ELISA kits...
August 17, 2018: Neurochemical Research
U Schara, G R Fink, A von Moers
BACKGROUND: Neuromuscular diseases in childhood, adolescence and adulthood are rare or very rare diseases and for many of them the prevalence and incidence are unknown. Causal therapies are currently used for individual disease entities only. Nevertheless, new genetic methods, a better understanding of the pathophysiology and multidisciplinary treatment concepts help to improve patient life expectancy and quality of life. As a result, more and more patients with an early disease onset reach adulthood and further care in adult medicine is necessary...
August 17, 2018: Der Nervenarzt
Bobby G Ng, Hunter R Underhill, Lars Palm, Per Bengtson, Jean-Michel Rozet, Sylvie Gerber, Arnold Munnich, Xavier Zanlonghi, Cathy A Stevens, Martin Kircher, Deborah A Nickerson, Kati J Buckingham, Kevin D Josephson, Jay Shendure, Michael J Bamshad, Hudson H Freeze, Erik A Eklund
Pathogenic mutations in DPAGT1 cause a rare type of a congenital disorder of glycosylation termed DPAGT1-CDG or, alternatively, a milder version with only myasthenia known as DPAGT1-CMS. Fourteen disease-causing mutations in 28 patients from 10 families have previously been reported to cause the systemic form, DPAGT1-CDG. We here report on another 11 patients from 8 families and add 10 new mutations. Most patients have a very severe disease course, where common findings are pronounced muscular hypotonia, intractable epilepsy, global developmental delay/intellectual disability, and early death...
August 17, 2018: JIMD Reports
Ivan de Carlos Cáceres, Daniel A Porto, Ivan Gallotta, Pamela Santonicola, Josue Rodríguez-Cordero, Elia Di Schiavi, Hang Lu
Spinal muscular atrophy (SMA) is a degenerative disorder that selectively deteriorates motor neurons due to a deficiency of survival motor neuron protein (SMN). The illness is the leading genetic cause of death in infants and is difficult to study in complex biological systems such as humans. A simpler model system, such as the nematode C. elegans, can be used to study potential mechanisms underlying this disease; C. elegans expresses the smn-1 gene, a homologue of SMN; powerful genetic tools in C. elegans research can be used to discover novel genes whose effect on SMN remains unknown or uncharacterized...
August 17, 2018: Integrative Biology: Quantitative Biosciences From Nano to Macro
M Eckstein, R S Lacruz
Enamel mineralization relies on Ca2+ availability provided by Ca2+ release activated Ca2+ (CRAC) channels. CRAC channels are modulated by the endoplasmic reticulum Ca2+ sensor STIM1 which gates the pore subunit of the channel known as ORAI1, found the in plasma membrane, to enable sustained Ca2+ influx. Mutations in the STIM1 and ORAI1 genes result in CRAC channelopathy, an ensemble of diseases including immunodeficiency, muscular hypotonia, ectodermal dysplasia with defects in sweat gland function and abnormal enamel mineralization similar to amelogenesis imperfecta (AI)...
August 9, 2018: Cell Calcium
C Agostinis-Sobrinho, A García-Hermoso, R Ramírez-Vélez, C Moreira, L Lopes, J Oliveira-Santos, S C Póvoas, J Mota, R Santos
BACKGROUND AND AIMS: Muscular fitness is an emerging predictor for cardiovascular disease mortality. The ideal cardiovascular health metrics has been inversely related to a subsequent cardiometabolic health in adulthood. However, evidence regarding muscular fitness and ideal cardiovascular health in adolescents is scarce. This study aimed to examine the longitudinal association between ideal cardiovascular health index and muscular fitness. METHODS AND RESULTS: This study cohort consisted of 331 adolescents (183 girls) from the LabMed Physical Activity Study who were followed from 2011 to 2013...
September 2018: Nutrition, Metabolism, and Cardiovascular Diseases: NMCD
Qi-Chao Dong, Hui-Min Chen, Xin Jin
Duchenne muscular dystrophy (DMD) is an X-linked recessive hereditary disease caused by mutations in the DMD gene that encodes dystrophin. It is characterized by progressive muscle weakness and degeneration of skeletal muscle and myocardium due to the absence of dystrophin. The disease often occurs at the age of 2-5 years, and most children may die of heart failure or respiratory insufficiency at the age of around 20 years. At present, supportive therapy is often used in clinical practice to improve symptoms, but this cannot improve the outcome of this disease...
August 2018: Zhongguo Dang Dai Er Ke za Zhi, Chinese Journal of Contemporary Pediatrics
Zhenji Gan, Tingting Fu, Daniel P Kelly, Rick B Vega
Skeletal muscle fitness and plasticity is an important determinant of human health and disease. Mitochondria are essential for maintaining skeletal muscle energy homeostasis by adaptive re-programming to meet the demands imposed by a myriad of physiologic or pathophysiological stresses. Skeletal muscle mitochondrial dysfunction has been implicated in the pathogenesis of many diseases, including muscular dystrophy, atrophy, type 2 diabetes, and aging-related sarcopenia. Notably, exercise counteracts the effects of many chronic diseases on skeletal muscle mitochondrial function...
August 14, 2018: Cell Research
Liang Wang, Victor Wei Zhang, Shaoyuan Li, Huan Li, Yiming Sun, Jing Li, Yuling Zhu, Ruojie He, Jinfu Lin, Cheng Zhang
BACKGROUND: Limb-girdle muscular dystrophy (LGMD) is a commonly diagnosed hereditary muscular disorder, characterized by the progressive weakness of the limb-girdle muscles. Although the condition has been well-characterized, clinical and genetic heterogeneity can be observed in patients with LGMD. Here, we aimed to describe the clinical manifestations and genetic variability among a cohort of patients with LGMD in South China. RESULTS: We analyzed the clinical information, muscle magnetic resonance imaging (MRI) findings, and genetic results obtained from 30 patients (24 families) with clinically suspected LGMD...
August 14, 2018: Orphanet Journal of Rare Diseases
Shuaiyu Wang, Bao Zhang, Gregory C Addicks, Hui Zhang, Keir J Menzies, Hongbo Zhang
Muscle stem cells (MuSCs) are essential for maintaining muscle homeostasis by providing progenitor cells for muscle regeneration after injury and in muscular diseases. MuSC properties dynamically change, reflecting physiology or pathological status. For instance, MuSCs are activated after muscle injury, but become exhausted in late stages of Duchenne Muscular Dystrophy (DMD) disease and senescent during aging. Therefore, characterization of MuSCs, including proliferation, activation, senescence, and apoptosis, etc...
August 14, 2018: Current Protocols in Mouse Biology
Aziza Rashed Alrafiah
BACKGROUND: Spinal muscular atrophy is a rare genetic disease, which primarily affects motor neurons and predominantly occurs in children. To date, alternatives for the treatment of the disease have been controversial. Spinal muscular atrophy has a multi-factorial etiology, with mitochondrial oxidative stress considered as the crucial pathogenic mechanism. To determine the mechanisms underlying the loss of motor neurons, NSC-34 motor neuron-like cells are often used as an in vitro model of spinal muscular atrophy...
August 14, 2018: Folia Morphologica (Warsz)
Toshiyuki Hata, Kenji Kanenishi, Nobuhiro Mori, Mohamed Ahmed Mostafa AboEllail, Uiko Hanaoka, Kosuke Koyano, Ikuko Kato, Takashi Kusaka
Objective To assess the usefulness of the antenatal fetal neurodevelopmental test for the prediction of postnatal developmental disabilities. Methods Fetal behavior was assessed with Kurjak's antenatal neurodevelopmental test (KANET) using four-dimensional ultrasound between 28 and 38 weeks of gestation. A score range of 0-5 was characterized as abnormal, from 6 to 9 was considered borderline, and 10-16 was normal. After birth, follow-up was conducted for at least 2 years in all fetuses. Results There were 337 normal (95...
August 11, 2018: Journal of Perinatal Medicine
Brigitte Fauroux, Alessandro Amaddeo, Susana Quijano-Roy, Christine Barnerias, Isabelle Desguerre, Sonia Khirani
Congenital muscular dystrophies and congenital myopathies represent a heterogeneous group of disorders of the muscle characterized by an early onset of hypotonia and muscle weakness and consequently, a high respiratory morbidity and mortality. The diagnosis and characterization of the weakness of the respiratory muscles is crucial for clinical management of patients and the evaluation of innovative therapies. Routine respiratory evaluation is based on noninvasive volitional tests, such as the measurement of lung volumes, spirometry, and maximal static pressures, which may be difficult or impossible to obtain in young children...
July 1, 2018: Neuromuscular Disorders: NMD
Hannah E Walters, Lynne S Cox
Chronological age represents the greatest risk factor for many life-threatening diseases, including neurodegeneration, cancer, and cardiovascular disease; ageing also increases susceptibility to infectious disease. Current efforts to tackle individual diseases may have little impact on the overall healthspan of older individuals, who would still be vulnerable to other age-related pathologies. However, recent progress in ageing research has highlighted the accumulation of senescent cells with chronological age as a probable underlying cause of pathological ageing...
August 8, 2018: International Journal of Molecular Sciences
Vyara Valkanova, Patrick Esser, Naiara Demnitz, Claire E Sexton, Enikő Zsoldos, Abda Mahmood, Ludovica Griffanti, Mika Kivimäki, Archana Singh-Manoux, Helen Dawes, Klaus P Ebmeier
BACKGROUND: Gait is thought to have a cognitive component, but the current evidence in healthy elderly is mixed. We studied the association between multiple gait and cognitive measures in a cohort of older people. METHODS: One hundred and seventy-eight cognitively healthy participants from the Whitehall II Imaging Sub-study had a detailed clinical and neuropsychological assessment, as well as an MRI scan. Spatiotemporal and variability gait measures were derived from two 10 m walks at self-selected speed...
July 29, 2018: Gait & Posture
Angèle N Merlet, Benjamin Chatel, Christophe Hourdé, Marion Ravelojaona, David Bendahan, Léonard Féasson, Laurent A Messonnier
Sickle cell disease (SCD) is the most frequent life-threatening genetic hemoglobinopathy in the world and occurs due to the synthesis of abnormal hemoglobin S (HbS). HbS-containing red blood cells (RBCs) are fragile, leading to hemolysis and anemia, and adhere to the endothelium, leading to hemorheological and hemodynamical disturbances. In its deoxygenated form, HbS may polymerize, leading to sickling of RBCs and potentially to vaso-occlusive crises. Recent findings observed that sickle cell disease patients demonstrate significant skeletal muscle remodeling and display reduced muscle functional capacities, contributing to exercise intolerance and poor quality of life...
August 8, 2018: Medicine and Science in Sports and Exercise
Benjamin E Deverman, Bernard M Ravina, Krystof S Bankiewicz, Steven M Paul, Dinah W Y Sah
Adeno-associated viral (AAV) vectors are a rapidly emerging gene therapy platform for the treatment of neurological diseases. In preclinical studies, transgenes encoding therapeutic proteins, microRNAs, antibodies or gene-editing machinery have been successfully delivered to the central nervous system with natural or engineered viral capsids via various routes of administration. Importantly, initial clinical studies have demonstrated encouraging safety and efficacy in diseases such as Parkinson disease and spinal muscular atrophy, as well as durability of transgene expression...
August 10, 2018: Nature Reviews. Drug Discovery
Dongsheng Duan
Duchenne muscular dystrophy (DMD) is a lethal muscle disease caused by dystrophin gene mutation. Conceptually, replacing the mutated gene with a normal one would cure the disease. However, this task has encountered significant challenges due to the enormous size of the gene and the distribution of muscle throughout the body. The former creates a hurdle for viral vector packaging and the latter begs for whole-body therapy. To address these obstacles, investigators have invented the highly abbreviated micro-dystrophin gene and developed body-wide systemic gene transfer with adeno-associated virus (AAV)...
July 17, 2018: Molecular Therapy: the Journal of the American Society of Gene Therapy
Emmanuelle C Genin, Sylvie Bannwarth, Françoise Lespinasse, Bernardo Ortega-Vila, Konstantina Fragaki, Kie Itoh, Elodie Villa, Sandra Lacas-Gervais, Manu Jokela, Mari Auranen, Emil Ylikallio, Alessandra Mauri-Crouzet, Henna Tyynismaa, Anna Vihola, Gaelle Augé, Charlotte Cochaud, Hiromi Sesaki, Jean-Ehrland Ricci, Bjarne Udd, Cristofol Vives-Bauza, Véronique Paquis-Flucklinger
Following the involvement of CHCHD10 in FrontoTemporal-Dementia-Amyotrophic Lateral Sclerosis (FTD-ALS) clinical spectrum, a founder mutation (p.Gly66Val) in the same gene was identified in Finnish families with late-onset spinal motor neuronopathy (SMAJ). SMAJ is a slowly progressive form of spinal muscular atrophy with a life expectancy within normal range. In order to understand why the p.Ser59Leu mutation, responsible for severe FTD-ALS, and the p.Gly66Val mutation could lead to different levels of severity, we compared their effects in patient cells...
August 6, 2018: Neurobiology of Disease
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