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Muscle Disease

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https://www.readbyqxmd.com/read/29793014/calf-muscle-oxygen-saturation-during-six-minute-walk-test-and-its-relationship-with-walking-impairment-in-symptomatic-peripheral-artery-disease
#1
Aluísio Andrade-Lima, Gabriel G Cucato, Wagner J R Domingues, Antônio H Germano-Soares, Bruno R Cavalcante, Marilia A Correia, Glauco F Saes, Nelson Wolosker, Andrew W Gardner, Antônio E Zerati, Raphael M Ritti-Dias
OBJECTIVE: Impaired microcirculation is associated with poor walking capacity in symptomatic peripheral artery disease (PAD) patients during treadmill test, however, this test does not simulate the efforts of daily walking of these patients. Thus, the aim of the study was to describe the microcirculation responses during six-minute walk test (6MWT) and to analyze the relationship between microcirculation indicators and walking impairment in symptomatic PAD patients. METHODS: Thirty-four patients were included (mean age = 67...
May 21, 2018: Annals of Vascular Surgery
https://www.readbyqxmd.com/read/29792862/the-reason-for-the-low-ca-2-sensitivity-of-thin-filaments-associated-with-the-glu41lys-mutation-in-the-tpm2-gene-is-freezing-of-tropomyosin-near-the-outer-domain-of-actin-and-inhibition-of-actin-monomer-switching-off-during-the-atpase-cycle
#2
Stanislava V Avrova, Olga E Karpicheva, Nikita A Rysev, Armen O Simonyan, Vladimir V Sirenko, Charles S Redwood, Yurii S Borovikov
The E41K mutation in TPM2 gene encoding muscle regulatory protein beta-tropomyosin is associated with nemaline myopathy and cap disease. The mutation results in a reduced Ca2+ -sensitivity of the thin filaments and in muscle weakness. To elucidate the structural basis of the reduced Ca2+ -sensitivity of the thin filaments, we studied multistep changes in spatial arrangement of tropomyosin (Tpm), actin and myosin heads during the ATPase cycle in reconstituted fibers, using the polarized fluorescence microscopy...
May 21, 2018: Biochemical and Biophysical Research Communications
https://www.readbyqxmd.com/read/29792553/mitochondrial-complex-i-defect-resulting-from-exercise-induced-lower-limb-ischemia-in-patients-with-peripheral-arterial-disease
#3
Isabelle Signolet, Pierre Abraham, Stéphanie Chupin, Myriam Ammi, Naïg Gueguen, Franck Letournel, Jean Picquet, Christophe Baufreton, Mickael Daligault, Vincent Procaccio, Pascal Reynier, Samir Henni
OBJECTIVE: This study aims to compare the structural and mitochondrial alterations between muscle segments affected by exercise-induced ischemia and segments of the same muscle without ischemia, in the same subject. METHODS: In a prospective analysis, 34 patients presenting either peripheral arterial disease or chronic coronary syndrome without any evidence of peripheral arterial disease were eligible for inclusion based on findings indicating a need for either a femoro-popliteal bypass or a saphenous harvesting for coronary bypass...
May 24, 2018: Journal of Applied Physiology
https://www.readbyqxmd.com/read/29791958/imaging-patterns-of-muscle-atrophy
#4
Marc-André Weber, Marcel Wolf, Mike P Wattjes
The role of muscle imaging in the diagnosis of inherited and acquired muscle diseases has gained clinical relevance. In particular, magnetic resonance imaging (MRI) is increasingly being used for diagnostic purposes, especially with its capability of whole-body musculature assessment. The assessment and quantification of muscle involvement in muscle diseases can be of diagnostic value by identifying a certain involvement pattern and thus narrowing the differential diagnosis and supporting the clinical diagnosis...
July 2018: Seminars in Musculoskeletal Radiology
https://www.readbyqxmd.com/read/29791932/b3galnt2-related-dystroglycanopathy-expansion-of-the-phenotype-with-novel-mutation-associated-with-muscle-eye-brain-disease-walker-warburg-syndrome-epileptic-encephalopathy-west-syndrome-and-sensorineural-hearing-loss
#5
Muna A Al Dhaibani, Ayman W El-Hattab, Omar Ismayl, Jehan Suleiman
Mutations in B3GALNT2 , encoding a glycosyltransferase enzyme involved in α-dystroglycan glycosylation, have been recently associated with dystroglycanopathy, a well-recognized subtype of congenital muscular dystrophy (CMD). Only a few cases have been reported with B3GALNT2 -related dystroglycanopathy with variable severity ranging from mild CMD to severe muscle-eye-brain disease. Here, we describe a child with a novel homozygous nonsense mutation in B3GALNT2 . The affected child has severe neurological disease since birth, including muscle disease manifested as hypotonia, muscle weakness, and wasting with elevated creatine kinase, eye disease including microphthalmia and blindness, brain disease with extensive brain malformations including massive hydrocephalus, diffuse cobblestone-lissencephaly, deformed craniocervical junction, and pontocerebellar hypoplasia...
May 23, 2018: Neuropediatrics
https://www.readbyqxmd.com/read/29791869/ghrelin-and-the-heart
#6
Takeshi Tokudome, Kentaro Otani, Mikiya Miyazato, Kenji Kangawa
Ghrelin, a growth hormone-releasing peptide that was first discovered in the stomach of rats in 1999, is an endogenous ligand of growth hormone secretagogue receptor. Ghrelin exerts its potent growth hormone-releasing and orexigenic activities by binding to specific receptors in the brain. Subsequent studies showed that ghrelin participates in the regulation of diverse processes, including energy balance, body weight maintenance, and glucose and fat metabolism, and demonstrated that ghrelin is beneficial for treatment of cardiac diseases...
May 20, 2018: Peptides
https://www.readbyqxmd.com/read/29791760/neopterin-7-8-dihydroneopterin-is-elevated-in-duchenne-muscular-dystrophy-patients-and-protects-mdx-skeletal-muscle-function
#7
Angus Lindsay, Alexandra Schmiechen, Christopher M Chamberlain, James M Ervasti, Dawn A Lowe
Macrophage infiltration is a hallmark of dystrophin-deficient muscle. We tested the hypothesis that Duchenne muscular dystrophy (DMD) patients would have elevated levels of the macrophage synthesized pterins, neopterin and 7,8-dihydroneopterin compared to unaffected age-matched controls. Urinary neopterin/creatinine and 7,8-dihydroneopterin/creatinine were elevated in DMD patients and 7,8-dihydroneopterin/creatinine was associated with patient age and ambulation. 7,8-dihydroneopterin correction with specific gravity was also elevated in DMD patients...
May 23, 2018: Experimental Physiology
https://www.readbyqxmd.com/read/29791652/inflammatory-myopathy-in-the-context-of-an-unusual-overlapping-laminopathy
#8
Cristina Guillín-Amarelle, Sofía Sánchez-Iglesias, Antonio Mera, Elena Pintos, Ana Castro-Pais, Leticia Rodríguez-Cañete, Julio Pardo, Felipe F Casanueva, David Araújo-Vilar
Laminopathies are genetic disorders associated with alterations in nuclear envelope proteins, known as lamins. The LMNA gene encodes lamins A and C, and LMNA mutations have been linked to diseases involving fat (type 2 familial partial lipodystrophy [FPLD2]), muscle (type 2 Emery-Dreifuss muscular dystrophy [EDMD2], type 1B limb-girdle muscular dystrophy [LGMD1B], and dilated cardiomyopathy), nerves (type 2B1 Charcot-Marie-Tooth disease), and premature aging syndromes. Moreover, overlapping syndromes have been reported...
May 17, 2018: Archives of Endocrinology and Metabolism
https://www.readbyqxmd.com/read/29791486/involvement-of-the-renin-angiotensin-system-in-the-progression-of-severe-hand-foot-and-mouth-disease
#9
Chao Zhang, Shuaiyin Chen, Guangyuan Zhou, Yuefei Jin, Rongguang Zhang, Haiyan Yang, Yuanlin Xi, Jingchao Ren, Guangcai Duan
BACKGROUND: Hand-foot-and-mouth disease (HFMD) is generally considered as a mild exanthematous disease to infants and young children worldwide. HFMD cases are usually mild and self-limiting but for few cases leads to complicated severe clinical outcomes, and even death. Previous studies have indicated that serum Ang II levels in patients with H7N9 infection were related to the severity of infection. However, the mechanisms underlying the pathogenesis of severe HFMD remain unclear. This study was undertaken to clarify the role of the renin-angiotensin system (RAS) in the progression of severe HFMD...
2018: PloS One
https://www.readbyqxmd.com/read/29790949/fecal-microbiota-composition-changes-after-a-body-weight-loss-diet-in-beagle-dogs
#10
A Salas, I Jeusette, I Castillo, C L Manuelian, C Lionnet, N Iraculis, N Sanchez, S Fernández, L L Vilaseca, C Torre
In developed countries, dogs and cats frequently suffer from obesity. Recently, gut microbiota composition in humans has been related to obesity and metabolic diseases. This study aimed to evaluate changes in body composition, and gut microbiota composition in obese Beagle dogs after a 17-week body weight (BW) loss program. A total of six neutered adult Beagle dogs with an average initial BW of 16.34 ± 1.52 kg and BCS of 7.8 ± 0.1 points (9-point scale) were restrictedly fed with a hypocaloric, low-fat and high-fiber dry-type diet...
May 22, 2018: Journal of Animal Science
https://www.readbyqxmd.com/read/29790948/cardioprotection-induced-by-activation-of-gper-in-ovariectomized-rats-with-pulmonary-hypertension
#11
Allan K N Alencar, Guilherme C Montes, Daniele G Costa, Luiza V P Mendes, Ananssa M S Silva, Sabrina T Martinez, Margarete M Trachez, Valéria do M N Cunha, Tadeu L Montagnoli, Aline G M Fraga, Hao Wang, Leanne Groban, Carlos A M Fraga, Roberto T Sudo, Gisele Zapata-Sudo
Pulmonary hypertension (PH) is a disease of women (female-to-male ratio 4:1), and is associated with cardiac and skeletal muscle dysfunction. Herein, the activation of a new estrogen receptor (GPER) by the agonist G1 was evaluated in oophorectomized rats with monocrotaline (MCT)-induced PH. Depletion of estrogen was induced by bilateral oophorectomy (OVX) in Wistar rats. Experimental groups included SHAM or OVX rats that received a single intraperitoneal injection of MCT (60 mg/kg) for PH induction. Animals received s...
May 21, 2018: Journals of Gerontology. Series A, Biological Sciences and Medical Sciences
https://www.readbyqxmd.com/read/29790693/hounsfield-units-from-unenhanced-18f-fdg-pet-ct-are-useful-in-evaluating-supradiaphragmatic-lymph-nodes-in-children-and-adolescents-with-classical-hodgkin-s-lymphoma
#12
Radosław Chaber, Mateusz Łasecki, Justyna Kwaśnicka, Kornelia Łach, Zbigniew Podgajny, Cyprian Olchowy, Urszula Zaleska-Dorobisz
BACKGROUND: The precise identification of the primarily-affected nodal regions in Hodgkin's lymphoma(HL) is essential in determining the stage of the disease and the intensity of chemotherapy and radiotherapy. OBJECTIVES: The aim of this study was to use the degree of X-ray attenuation (XRA) in Hounsfield units(HU) and the lymph node-to-muscle attenuation ratio (LN/M) in computed tomography (CT) unenhancedimaging, routinely performed with 18F-fluorodeoxyglucose positron emission tomography (18F-FDG-PET),to distinguish HL-affected supradiaphragmatic lymph nodes...
May 16, 2018: Advances in Clinical and Experimental Medicine: Official Organ Wroclaw Medical University
https://www.readbyqxmd.com/read/29790196/rituximab-is-ineffective-for-treatment-of-fatigue-in-primary-biliary-cholangitis-a-phase-2-randomised-controlled-trial
#13
Amardeep Khanna, Laura Jopson, Denise Howel, Andrew Bryant, Andrew Blamire, Julia L Newton, David E Jones
Primary Biliary Cholangitis (PBC) is a chronic cholestatic liver disease. Half of patients experience debilitating fatigue which is currently untreatable. Previous studies have shown muscle bioenergetic abnormalities in PBC, including increased muscle acidosis with exercise linked to the anti-mitochondrial antibody (AMA) diagnostic of the disease, and reduced anaerobic threshold. In this study we addressed the hypothesis that fatigue in PBC is driven by muscle bioenergetic abnormality related to AMA, and that AMA reduction with B-cell depletion therapy will improve fatigue...
May 23, 2018: Hepatology: Official Journal of the American Association for the Study of Liver Diseases
https://www.readbyqxmd.com/read/29790082/chronic-administration-of-pimozide-fails-to-attenuate-motor-and-pathological-deficits-in-two-mouse-models-of-amyotrophic-lateral-sclerosis
#14
Silvia Pozzi, Sai Sampath Thammisetty, Jean-Pierre Julien
Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease which presently does not have any efficient therapeutic approach. Pimozide, a Food and Drug Administration (FDA)-approved neuroepileptic drug, has been recently proposed as a promising treatment for ALS patients based on apparent stabilization of right hand muscles after a short-time administration. A new clinical trial started at the end of 2017 to recruit patients with a prolonged drug delivery schedule. Here, our aim was to investigate the effects of chronic administration of pimozide on disease progression and pathological events in two mouse models of ALS...
May 22, 2018: Neurotherapeutics: the Journal of the American Society for Experimental NeuroTherapeutics
https://www.readbyqxmd.com/read/29789801/exercise-prevents-diaphragm-wasting-induced-by-cigarette-smoke-through-modulation-of-antioxidant-genes-and-metalloproteinases
#15
Gracielle Vieira Ramos, Alessandra Choqueta de Toledo-Arruda, Clara Maria Pinheiro-Dardis, Camila Liyoko Suehiro, Thiago Luiz de Russo, Rodolfo Paula Vieira, Milton Arruda Martins, Tania Fátima Salvini, João Luiz Quagliotti Durigan
Background: The present study aimed to analyze the effects of physical training on an antioxidant canonical pathway and metalloproteinases activity in diaphragm muscle in a model of cigarette smoke-induced chronic obstructive pulmonary disease (COPD). Methods: Male mice were randomized into control, smoke, exercise, and exercise + smoke groups, which were maintained in trial period of 24 weeks. Gene expression of kelch-like ECH-associated protein 1; nuclear factor erythroid-2 like 2; and heme-oxygenase1 by polymerase chain reaction was performed...
2018: BioMed Research International
https://www.readbyqxmd.com/read/29789684/dipeptidyl-peptidase-iv-dpp-4-inhibition-alleviates-pulmonary-arterial-remodeling-in-experimental-pulmonary-hypertension
#16
Jian Xu, Jingjing Wang, Mengyu He, Honghao Han, Weiping Xie, Hong Wang, Hui Kong
Dipeptidyl peptidase IV (DPP-4) is well known for its role in glucose homeostasis, and DPP-4 inhibitor (DPP-4i) exhibits multiple actions in cardiovascular diseases. However, the effect of DPP-4i on pulmonary hypertension (PH) remains unclear. Therefore, this study aims to investigate the effect of DPP-4i on pulmonary arterial remodeling in rats with PH and the potential underlying mechanisms. Our results show that DPP-4 was expressed in epithelial cells, endothelial cells, smooth muscle cells, and inflammatory cells in lung...
May 22, 2018: Laboratory Investigation; a Journal of Technical Methods and Pathology
https://www.readbyqxmd.com/read/29789558/celastrol-alleviates-renal-fibrosis-by-upregulating-cannabinoid-receptor-2-expression
#17
Ming Tang, Xu Cao, Kun Zhang, You Li, Quan-You Zheng, Gui-Qing Li, Qian-Hui He, Shu-Jing Li, Gui-Lian Xu, Ke-Qin Zhang
Renal fibrosis is the final manifestation of various chronic kidney diseases, and no effective therapy is available to prevent or reverse it. Celastrol, a triterpene that derived from traditional Chinese medicine, is a known potent anti-fibrotic agent. However, the underlying mechanisms of action of celastrol on renal fibrosis remain unknown. In this study, we found that celastrol treatment remarkably attenuated unilateral ureteral obstruction (UUO)-induced mouse renal fibrosis. This was evidenced by the significant reduction in tubular injury; collagen deposition; accumulation of fibronectin, collagen I, and α-smooth muscle actin; and the expression levels of pro-fibrotic factors Vim, Cola1, and TGF-β1 mRNA, as well as inflammatory responses...
May 22, 2018: Cell Death & Disease
https://www.readbyqxmd.com/read/29789544/development-of-muscular-dystrophy-in-a-crispr-engineered-mutant-rabbit-model-with-frame-disrupting-ano5-mutations
#18
Tingting Sui, Li Xu, Yeh Siang Lau, Di Liu, Tingjun Liu, Yandi Gao, Liangxue Lai, Renzhi Han, Zhanjun Li
Limb girdle muscular dystrophy type 2L (LGMD2L) and Miyoshi myopathy type 3 (MMD3) are autosomal recessive muscular dystrophy caused by mutations in the gene encoding anoctamin-5 (ANO5), which belongs to the anoctamin protein family. Two independent lines of mice with complete disruption of ANO5 transcripts did not exhibit overt muscular dystrophy phenotypes; instead, one of these mice was observed to present with some abnormality in sperm motility. In contrast, a third line of ANO5-knockout (KO) mice with residual expression of truncated ANO5 expression was reported to display defective membrane repair and very mild muscle pathology...
May 22, 2018: Cell Death & Disease
https://www.readbyqxmd.com/read/29789398/microrna-133a-impairs-perfusion-recovery-after-hindlimb-ischemia-in-diabetic-mice
#19
Lingdan Chen, Chunli Liu, Dejun Sun, Tao Wang, Li Zhao, Wenli Chen, Mingjie Yuan, Jian Wang, Wenju Lu
Objective: Peripheral arterial disease (PAD) patients with diabetes mellitus suffer from impaired neovascularization after ischemia which results in poorer outcomes. MicroRNA (miR)-133a is excessively expressed in endothelial cells under diabetic conditions. Here, we test whether diabetes-induced miR-133a upregulation is involved in the impaired capability of neovascularization in experimental PAD models. Methods and Results: MiR-133a level was measured by quantitative RT-PCR and showed a higher expression level in the ischemic muscle from diabetic mice when compared to non-diabetic mice...
May 22, 2018: Bioscience Reports
https://www.readbyqxmd.com/read/29789344/pgc-1%C3%AE-as-a-biomarker-of-physical-activity-protective-effect-on-colorectal-cancer
#20
Fernanda De Souza-Teixeira, Jéssica Alonso-Molero, Carlos Ayán, Laura Vilorio-Marques, Antonio J Molina, Carmen González-Donquiles, Veronica Davila-Batista, Tania Fernández-Villa, Jose Antonio de Paz, Vicente Martín
Colorectal cancer is a significant public health concern. As a multistage and multifactorial disease, environmental and genetic factors interact at each stage of the process, and an individual's lifestyle also plays a relevant role. We set out to review the scientific evidence to study the need to investigate the role of the peroxisome proliferator-activated receptor gamma coactivator 1 alpha (PGC-1α) gene as a biomarker of the physical activity's (PA) effect on colorectal cancer. PA is a protective factor against colorectal cancer and usually increases the expression of PGC-1α...
May 22, 2018: Cancer Prevention Research
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