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Total 106 results found since Jan 2013.

Comparison of gluteus medius muscle activity in Haflinger and Noriker horses with polysaccharide storage myopathy
AbstractType 1 polysaccharide storage myopathy caused by genetic mutation in the glycogen synthase 1 gene is present in many breeds including the Noriker and Haflinger horses. In humans, EMG has already been used to document changes in the muscle activity patterns of patients affected by human glycogen storage disorders. Therefore, the aim of the present study was to describe gluteus muscle activity with surface electromyography (sEMG) in Haflinger and Noriker horses with known GYS1 mutation status during walk and trot. Thirty ‐two horses (11 Haflinger and 21 Noriker horses) with homozygous non‐affected (GG), heterozyg...
Source: Journal of Animal Physiology and Animal Nutrition - February 20, 2021 Category: Zoology Authors: Rebeka Roza Zsoldos, Negar Khayatzadeh, Johann Soelkner, Ulrike Schroeder, Caroline Hahn, Theresia Franziska Licka Tags: ORIGINAL ARTICLE Source Type: research

Lessons Learned from Inherited Metabolic Disorders of Sulfur-Containing Amino Acids Metabolism
ABSTRACTThe metabolism of sulfur-containing amino acids (SAAs) requires an orchestrated interplay among several dozen enzymes and transporters, and an adequate dietary intake of methionine (Met), cysteine (Cys), and B vitamins. Known human genetic disorders are due to defects in Met demethylation, homocysteine (Hcy) remethylation, or cobalamin and folate metabolism, in Hcy transsulfuration, and Cys and hydrogen sulfide (H2S) catabolism. These disorders may manifest between the newborn period and late adulthood by a combination of neuropsychiatric abnormalities, thromboembolism, megaloblastic anemia, hepatopathy, myopathy, ...
Source: Journal of Nutrition - October 1, 2020 Category: Nutrition Source Type: research

Congenital myopathies 1 – nemaline
Nemaline myopathy (NM) constitutes a clinically and genetically heterogeneous spectrum of muscle disorders. Until very recently, little or no scientific attention has been paid to the lived experience and functioning of people with neuromuscular disorders. The same is true for the impact of eating and nutrition on the daily life of these patients. Persons with NM often have weakness of the facial and bulbar muscles and secondary structural abnormalities of the oral region, complicating eating and swallowing, and likely affecting their nutritional state.
Source: Neuromuscular Disorders - September 28, 2020 Category: Neurology Authors: V. Lehtokari, M. Tammepuu, M. Simil ä, S. Strang-Karlsson, S. Hiekkala, C. Wallgren-Pettersson Source Type: research

The Potential of Guanidino Acetic Acid to Reduce the Occurrence and Severity of Broiler Muscle Myopathies
Guanidinoacetic acid (GAA) is the biochemical precursor of creatine, which, in its phosphorylated form, is an essential high-energy carrier in the muscle. Although creatine has limited stability in feed processing, GAA is well established as a source of creatine in the animal feed industry. Published data demonstrate beneficial effects of GAA supplementation on muscle creatine, energy compounds, and antioxidant status, leading to improvements in broiler body weight gain, feed conversion ratio, and breast meat yield. Although increases in weight gain and meat yield are often associated with wooden breast (WB) and other myop...
Source: Frontiers in Physiology - August 13, 2020 Category: Physiology Source Type: research

ICU-acquired weakness
AbstractCritically ill patients often acquire neuropathy and/or myopathy labeled ICU-acquired weakness. The current insights into incidence, pathophysiology, diagnostic tools, risk factors, short- and long-term consequences and management of ICU-acquired weakness are narratively reviewed. PubMed was searched for combinations of “neuropathy”, “myopathy”, “neuromyopathy”, or “weakness” with “critical illness”, “critically ill”, “ICU”, “PICU”, “sepsis” or “burn”. ICU-acquired weakness affects limb and respiratory muscles with a widely varying prevalence depending on the study population...
Source: Intensive Care Medicine - February 18, 2020 Category: Intensive Care Source Type: research

Severe Abdominal Manifestations in Juvenile Dermatomyositis
Juvenile dermatomyositis (JDM) is a rare and heterogeneous pediatric-onset idiopathic inflammatory myopathy. Gastrointestinal (GI) involvement occurs in 22% to 37% of JDM patients but has only been described in case reports. In this retrospective, single-center, observational study, we aimed to assess the causes and management of severe GI manifestations in JDM patients. We studied a cohort of 9 patients among 110 JDM patients followed during the study period (8.3%). The GI complications were related to JDM in most cases (17/19), with digestive tract involvement (n = 10), acute pancreatitis (n = 4), and hepatitis (...
Source: Journal of Pediatric Gastroenterology and Nutrition - January 23, 2020 Category: Gastroenterology Tags: Short Communications: Gastroenterology Source Type: research

First person - Stephanie Fernandes FIRST PERSON
ABSTRACT First Person is a series of interviews with the first authors of a selection of papers published in Disease Models & Mechanisms, helping early-career researchers promote themselves alongside their papers. Stephanie Fernandes is first author on ‘Altered in vitro muscle differentiation in X-linked myopathy with excessive autophagy’, published in DMM. Stephanie conducted the research described in this article while a master's degree student in Mariz Vainzof's lab at the Human Genome and Stem-Cell Research Center, University of São Paulo, São Paulo, Brazil. She is now a PhD student in the...
Source: DMM Disease Models and Mechanisms - January 9, 2020 Category: Biomedical Science Tags: FIRST PERSON Source Type: research

Arginine therapy in mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
Purpose of review We would like to inform clinicians that the systematic administration of oral and intravenous L-arginine is therapeutically beneficial and clinically useful for patients with mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS), when they maintain plasma arginine concentration at least 168 μmol/l. Recent findings MELAS is associated with endothelial dysfunction by decreased plasma L-arginine, nitric oxide (NO), and cyclic guanosine monophosphate. Endothelial dysfunction is also evident using flow-mediated vasodilation measurement by high-resolution Doppler echo...
Source: Current Opinion in Clinical Nutrition and Metabolic Care - November 28, 2019 Category: Nutrition Tags: PROTEIN, AMINO ACID METABOLISM AND THERAPY: Edited by Rajavel Elango and Alessandro Laviano Source Type: research

Does cystic fibrosis impact skeletal muscles and diaphragm function?
Conclusion: CF patients had lower muscle thicknesses and handgrip strength than controls. Patients taking oral nutritional support and those with pancreatic insufficiency, had lower rectus femoris thickness and handgrip strength. In CF patients, routine use of USG and hand dynamometer may help predict different clinical parameters.
Source: European Respiratory Journal - November 20, 2019 Category: Respiratory Medicine Authors: Uslu, N. Z., Kocakaya, D., Olgun Yıldızeli, S., Eryüksel, E., Kenis Coskun, O., Cimsit, C., Görcin Karaketir, S., Ceyhan, B. Tags: Cystic fibrosis Source Type: research

A Case of β-Carotenemia Misdiagnosed as Jaundice by the Bilirubin Oxidase Method.
Authors: Kiuchi S, Ihara H, Koyasu M, Tani A, Hashizume N Abstract Serum bilirubin measurement is necessary to accurately distinguish jaundice from carotenemia. A 59.8-y old Japanese male showed symptoms of yellow skin pigmentation as a result of β-carotenemia. Diagnostic laboratory results indicated elevated levels of serum muscle enzymes (aspartate aminotransferase, lactate dehydrogenase, and creatine kinase), but normal levels in liver function tests (alanine aminotransferase and direct bilirubin). The laboratory results indicated hypothyroid myopathy. Moreover, although the patient did not show significant abn...
Source: Journal of Nutritional Science and Vitaminology - November 1, 2019 Category: Nutrition Tags: J Nutr Sci Vitaminol (Tokyo) Source Type: research

P.58No effect of resveratrol supplementation in patients with mitochondrial myopathy - a randomized, double-blind, placebo-controlled, cross-over study
Mitochondrial myopathies (MM) are caused by mutations that affect proteins involved in oxidative phosphorylation. Main symptoms are exercise intolerance and fatigue. Currently, there is no specific treatment for MM. Resveratrol (RSV) is a well-known nutritional supplement that may target several mitochondrial metabolic pathways. It has been shown to enhance oxidative capacity and have antioxidant and anti-inflammatory properties in cells and animal models. The study is the first to asses if RSV can improve mitochondrial function and thereby improve exercise capacity in patients with MM.
Source: Neuromuscular Disorders - September 30, 2019 Category: Neurology Authors: N. L økken, T. Khawajazada, J. Storgaard, D. Raaschou-Pedersen, M. Ørngreen, J. Vissing Source Type: research

Quantum Blue Reduces the Severity of Woody Breast Myopathy via Modulation of Oxygen Homeostasis-Related Genes in Broiler Chickens
In this study, using diffuse reflectance spectroscopy (DRS) coupled with iSTAT portable clinical analyzer, we provide evidence that the circulatory- and breast muscle-oxygen homeostasis is dysregulated [low oxygen and hemoglobin (HB) levels] in chickens with WB myopathy compared to healthy counterparts. Molecular analysis showed that blood HB subunit Mu (HBM), Zeta (HBZ), and hephaestin (HEPH) expression were significantly down regulated; however, the expression of the subunit rho of HB beta (HBBR) was upregulated in chicken with WB compared to healthy counterparts. The breast muscle HBBR, HBE, HBZ, and hypoxia-inducible f...
Source: Frontiers in Physiology - September 30, 2019 Category: Physiology Source Type: research

Cancers, Vol. 11, Pages 1300: Assessing Cachexia Acutely after Autologous Stem Cell Transplant
ncey Jose M. Garcia Autologous hematopoietic stem cell transplantation (AHCT) is an accepted strategy for various hematologic malignancies that can lead to functional impairment, fatigue, muscle wasting, and reduced quality of life (QOL). In cancer cachexia, these symptoms are associated with inflammation, hypermetabolism, and decreased anabolic hormones. The relative significance of these factors soon after AHCT setting is unclear. The purpose of this study was to characterize the acute effects of AHCT on physical function, body composition, QOL, energy expenditure, cytokines, and testosterone. Outcomes were assesse...
Source: Cancers - September 3, 2019 Category: Cancer & Oncology Authors: Lindsey J. Anderson Chelsea Yin Raul Burciaga Jonathan Lee Stephanie Crabtree Dorota Migula Kelsey Geiss-Wessel Haiming M. Liu Solomon A. Graf Thomas R. Chauncey Jose M. Garcia Tags: Article Source Type: research

Coenzyme Q10.
This article reviews the pertinent chemical, metabolic, and physiologic properties of CoQ10 and the scientific data and clinical trials that address its use in two common clinical settings: statin-associated myopathy syndrome (SAMS) and congestive heart failure (CHF). Although clinical trials of CoQ10 in SAMS have conflicting conclusions, the weight of the evidence, as seen in meta-analyses, supports the use of CoQ10 in SAMS overall. In CHF, there is a lack of large-scale randomized clinical trial data regarding the use of statins in patients receiving contemporary treatment. However, one relatively recent randomized clini...
Source: Methodist DeBakey Cardiovascular Journal - June 30, 2019 Category: Cardiology Authors: Raizner AE Tags: Methodist Debakey Cardiovasc J Source Type: research