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Creatine deficiency

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https://www.readbyqxmd.com/read/29656938/vitamin-d-deficiency-and-periprocedural-myocardial-infarction-in-patients-undergoing-percutaneous-coronary-interventions
#1
Monica Verdoia, Claudia Ceccon, Matteo Nardin, Harry Suryapranata, Giuseppe De Luca
Vitamin D deficiency has been implicated in the progression of atherosclerosis and acute thrombotic events. We aimed at evaluating the impact of vitamin D deficiency on periprocedural myocardial infarction (PMI) in patients undergoing percutaneous coronary interventions (PCI). We included 934 patients undergoing non-urgent PCI. Assessment of myocardial biomarkers was performed from 6 to 48 h after PCI. PMI was defined as Creatine Kinase-MB increase by 3 times the Upper Limit Normal or by 50% of an elevated baseline value, periprocedural myocardial damage as Troponin I increase by 3 × ULN or 50% of baseline...
March 4, 2018: Cardiovascular Revascularization Medicine: Including Molecular Interventions
https://www.readbyqxmd.com/read/29609020/up-regulation-of-nox1-nadph-oxidase-following-drug-induced-myocardial-injury-promotes-cardiac-dysfunction-and-fibrosis
#2
Kazumi Iwata, Kuniharu Matsuno, Ayumi Murata, Kai Zhu, Hitomi Fukui, Keiko Ikuta, Masato Katsuyama, Masakazu Ibi, Misaki Matsumoto, Makoto Ohigashi, Xiaopeng Wen, Jia Zhang, Wenhao Cui, Chihiro Yabe-Nishimura
Cardiac fibrosis is a common feature in failing heart and therapeutic strategy to halt the progression of fibrosis is highly needed. We here report on NOX1, a non-phagocytic isoform of superoxide-producing NADPH oxidase, which promotes cardiac fibrosis in a drug-induced myocardial injury model. A single-dose administration of doxorubicin (DOX) elicited cardiac dysfunction accompanied by increased production of reactive oxygen species and marked elevation of NOX1 mRNA in the heart. In mice deficient in Nox1 (Nox1-/Y ), cardiac functions were well retained and overall survival was significantly improved...
March 30, 2018: Free Radical Biology & Medicine
https://www.readbyqxmd.com/read/29589768/ioc-consensus-statement-dietary-supplements-and-the-high-performance-athlete
#3
Ronald J Maughan, Louise M Burke, Jiri Dvorak, D Enette Larson-Meyer, Peter Peeling, Stuart M Phillips, Eric S Rawson, Neil P Walsh, Ina Garthe, Hans Geyer, Romain Meeusen, Luc van Loon, Susan M Shirreffs, Lawrence L Spriet, Mark Stuart, Alan Vernec, Kevin Currell, Vidya M Ali, Richard G M Budgett, Arne Ljungqvist, Margo Mountjoy, Yannis Pitsiladis, Torbjørn Soligard, Uğur Erdener, Lars Engebretsen
Nutrition usually makes a small but potentially valuable contribution to successful performance in elite athletes, and dietary supplements can make a minor contribution to this nutrition program. Nonetheless, supplement use is widespread at all levels of sport. Products described as supplements target different issues, including the management of micronutrient deficiencies, supply of convenient forms of energy and macronutrients, and provision of direct benefits to performance or indirect benefits such as supporting intense training regimens...
March 28, 2018: International Journal of Sport Nutrition and Exercise Metabolism
https://www.readbyqxmd.com/read/29552494/open-label-clinical-trial-of-bezafibrate-treatment-in-patients-with-fatty-acid-oxidation-disorders-in-japan
#4
Kenji Yamada, Hideaki Shiraishi, Eishin Oki, Mika Ishige, Toshiyuki Fukao, Yusuke Hamada, Norio Sakai, Fumihiro Ochi, Asami Watanabe, Sanae Kawakami, Kazuyo Kuzume, Kenji Watanabe, Koji Sameshima, Kiyotaka Nakamagoe, Akira Tamaoka, Naoko Asahina, Saki Yokoshiki, Takashi Miyakoshi, Kota Ono, Koji Oba, Toshiyuki Isoe, Hiroshi Hayashi, Seiji Yamaguchi, Norihiro Sato
Introduction: Fatty acid oxidation disorders (FAODs) are rare diseases caused by defects in mitochondrial fatty acid oxidation (FAO) enzymes. While the efficacy of bezafibrate, a peroxisome proliferator-activated receptor agonist, on the in vitro FAO capacity has been reported, the in vivo efficacy remains controversial. Therefore, we conducted a clinical trial of bezafibrate in Japanese patients with FAODs. Materials and methods: This trial was an open-label, non-randomized, and multicenter study of bezafibrate treatment in 6 patients with very long-chain acyl-CoA dehydrogenase (VLCAD) deficiency and 2 patients with carnitine palmitoyltransferase-II (CPT-2) deficiency (median age, 8...
June 2018: Molecular Genetics and Metabolism Reports
https://www.readbyqxmd.com/read/29540367/ioc-consensus-statement-dietary-supplements-and-the-high-performance-athlete
#5
Ronald J Maughan, Louise M Burke, Jiri Dvorak, D Enette Larson-Meyer, Peter Peeling, Stuart M Phillips, Eric S Rawson, Neil P Walsh, Ina Garthe, Hans Geyer, Romain Meeusen, Lucas J C van Loon, Susan M Shirreffs, Lawrence L Spriet, Mark Stuart, Alan Vernec, Kevin Currell, Vidya M Ali, Richard Gm Budgett, Arne Ljungqvist, Margo Mountjoy, Yannis P Pitsiladis, Torbjørn Soligard, Uğur Erdener, Lars Engebretsen
Nutrition usually makes a small but potentially valuable contribution to successful performance in elite athletes, and dietary supplements can make a minor contribution to this nutrition programme. Nonetheless, supplement use is widespread at all levels of sport. Products described as supplements target different issues, including (1) the management of micronutrient deficiencies, (2) supply of convenient forms of energy and macronutrients, and (3) provision of direct benefits to performance or (4) indirect benefits such as supporting intense training regimens...
April 2018: British Journal of Sports Medicine
https://www.readbyqxmd.com/read/29534088/age-dependent-changes-in-metabolic-profile-of-turkey-spermatozoa-as-assessed-by-nmr-analysis
#6
Nicolaia Iaffaldano, Michele Di Iorio, Luisa Mannina, Gianluca Paventi, Maria Pina Rosato, Silvia Cerolini, Anatoly P Sobolev
Metabolic profile of fresh turkey spermatozoa at three different reproductive period ages, namely 32, 44 and 56 weeks, was monitored by Nuclear Magnetic Resonance (NMR) spectroscopy and correlated to sperm quality parameters. The age-related decrease in sperm quality as indicated by reduction of sperm concentration, sperm mobility and osmotic tolerance was associated to variation in the level of specific water-soluble and liposoluble metabolites. In particular, the highest levels of isoleucine, phenylalanine, leucine, tyrosine and valine were found at 32 weeks of age, whereas aspartate, lactate, creatine, carnitine, acetylcarnitine levels increased during the ageing...
2018: PloS One
https://www.readbyqxmd.com/read/29524782/treatment-with-medium-chain-fatty-acids-milk-of-cd36-deficient-preschool-children
#7
Hironori Nagasaka, Ken-Ichi Hirano, Tohru Yorifuji, Haruki Komatsu, Tomonozumi Takatani, Ichiro Morioka, Satoshi Hirayama, Takashi Miida
OBJECTIVE: CD36 deficiency is characterized by limited cellular long chain fatty acid uptake in the skeletal and cardiac muscles and often causes energy crisis in these muscles. However, suitable treatment for CD36 deficiency remains to be established. The aim of this study was to evaluate the clinical and metabolic effects of medium chain triacylglycerols (MCTs) in two CD36-deficient preschool children who often developed fasting hypoglycemia and exercise-induced myalgia. METHODS: Fasting blood glucose, total ketone bodies, and free fatty acids were examined and compared for usual supper diets and for diets with replacement of one component with 2 g/kg of 9% MCT-containing milk (MCT milk)...
November 29, 2017: Nutrition
https://www.readbyqxmd.com/read/29506905/treatment-outcome-of-twenty-two-patients-with-guanidinoacetate-methyltransferase-deficiency-an-international-retrospective-cohort-study
#8
Yannay Khaikin, Sarah Sidky, Jose Abdenur, Arnaud Anastasi, Diana Ballhausen, Sabrina Buoni, Alicia Chan, David Cheillan, Nathalie Dorison, Alice Goldenberg, Jennifer Goldstein, Floris C Hofstede, Marie-Line Jacquemont, Dwight D Koeberl, Laurence Lion-Francois, Allan Meldgaard Lund, Karine Mention, Helen Mundy, Declan O'Rourke, Gaele Pitelet, Miquel Raspall-Chaure, Maria Tassini, Thierry Billette de Villemeur, Monique Williams, Gajja S Salomons, Saadet Mercimek-Andrews
PURPOSE: Guanidinoacetate methyltransferase (GAMT) deficiency is an autosomal recessive disorder caused by pathogenic variants in GAMT. Brain creatine depletion and guanidinoacetate accumulation cause developmental delay, seizures and movement disorder. Treatment consists of creatine, ornithine and arginine-restricted diet. We initiated an international treatment registry using Research Electronic Data Capture (REDCap) software to evaluate treatment outcome. METHODS: Physicians completed an online REDCap questionnaire...
February 16, 2018: European Journal of Paediatric Neurology: EJPN
https://www.readbyqxmd.com/read/29493158/-identification-of-biomarkers-in-urine-of-rats-with-spleen-qi-deficiency-and-biological-significance
#9
Wu-Ping Liu, Chan-Yi Li, Jing Huang, Jing-Zhu Liao, Wen-Jie Ma, Hong-Yuan Chen, Wen Rui
To identify biomarkers for spleen Qi deficiency by analyzing small molecule metabolites in urine, in order to expound the relationship between biomarkers and metabolic pathways. The spleen Qi deficiency model was established through dietary restriction and overstrain. All of the rats received D-xylose absorption experiment and blood routine test. Urine samples were collected in the next day. The urine samples were analyzed using UPLC-Q-TOF-MS to obtain the dataset of urine metabolic group. Principal component analysis (PCA), orthogonal partialleast squares-discriminant analysis (OPLS-DA) and other multivariate statistical methods were employed to evaluate the quality of the dataset and screen out potential biomarkers of spleen Qi deficiency...
December 2017: Zhongguo Zhong Yao za Zhi, Zhongguo Zhongyao Zazhi, China Journal of Chinese Materia Medica
https://www.readbyqxmd.com/read/29478817/functional-assessment-of-creatine-transporter-in-control-and-x-linked-slc6a8-deficient-fibroblasts
#10
Marie Joncquel-Chevalier Curt, Marie-Adélaïde Bout, Monique Fontaine, Isabelle Kim, Guillemette Huet, Soumeya Bekri, Gilles Morin, Stéphanie Moortgat, Alexandre Moerman, Jean-Marie Cuisset, David Cheillan, Joseph Vamecq
Creatine transporter is currently the focus of renewed interest with emerging roles in brain neurotransmission and physiology, and the bioenergetics of cancer metastases. We here report on amendments of a standard creatine uptake assay which might help clinical chemistry laboratories to extend their current range of measurements of creatine and metabolites in body fluids to functional enzyme explorations. In this respect, short incubation times and the use of a stable-isotope-labeled substrate (D3 -creatine) preceded by a creatine wash-out step from cultured fibroblast cells by removal of fetal bovine serum (rich in creatine) from the incubation medium are recommended...
February 16, 2018: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/29475025/protein-anchoring-therapy-to-target-extracellular-matrix-proteins-to-their-physiological-destinations
#11
REVIEW
Mikako Ito, Kinji Ohno
Endplate acetylcholinesterase (AChE) deficiency is a form of congenital myasthenic syndrome (CMS) caused by mutations in COLQ, which encodes collagen Q (ColQ). ColQ is an extracellular matrix (ECM) protein that anchors AChE to the synaptic basal lamina. Biglycan, encoded by BGN, is another ECM protein that binds to the dystrophin-associated protein complex (DAPC) on skeletal muscle, which links the actin cytoskeleton and ECM proteins to stabilize the sarcolemma during repeated muscle contractions. Upregulation of biglycan stabilizes the DPAC...
February 20, 2018: Matrix Biology: Journal of the International Society for Matrix Biology
https://www.readbyqxmd.com/read/29474464/clinical-and-genetic-characterisation-of-dystrophin-deficient-muscular-dystrophy-in-a-family-of-miniature-poodle-dogs
#12
Lluís Sánchez, Elsa Beltrán, Alberta de Stefani, Ling T Guo, Anita Shea, G Diane Shelton, Luisa De Risio, Louise M Burmeister
Four full-sibling intact male Miniature Poodles were evaluated at 4-19 months of age. One was clinically normal and three were affected. All affected dogs were reluctant to exercise and had generalised muscle atrophy, a stiff gait and a markedly elevated serum creatine kinase activity. Two affected dogs also showed poor development, learning difficulties and episodes of abnormal behaviour. In these two dogs, investigations into forebrain structural and metabolic diseases were unremarkable; electromyography demonstrated fibrillation potentials and complex repetitive discharges in the infraspinatus, supraspinatus and epaxial muscles...
2018: PloS One
https://www.readbyqxmd.com/read/29466875/impacts-of-maternal-dietary-protein-intake-on-fetal-survival-growth-and-development
#13
Cassandra M Herring, Fuller W Bazer, Gregory A Johnson, Guoyao Wu
Maternal nutrition during gestation, especially dietary protein intake, is a key determinant in embryonic survival, growth, and development. Low maternal dietary protein intake can cause embryonic losses, intra-uterine growth restriction, and reduced postnatal growth due to a deficiency in specific amino acids that are important for cell metabolism and function. Of note, high maternal dietary protein intake can also result in intra-uterine growth restriction and embryonic death, due to amino acid excesses, as well as the toxicity of ammonia, homocysteine, and H2 S that are generated from amino acid catabolism...
January 1, 2018: Experimental Biology and Medicine
https://www.readbyqxmd.com/read/29443755/argininemia-as-a-cause-of-severe-chronic-stunting-and-partial-growth-hormone-deficiency-pghd-a-case-report
#14
Xiaotang Cai, Dan Yu, Yongmei Xie, Hui Zhou
RATIONALE: Argininemia is an autosomal recessive inherited disorder of the urea cycle. Because of its atypical symptoms in early age, diagnosis can be delayed until the typical chronic manifestations - including spastic diplegia, deterioration in cognitive function, and epilepsy - appear in later childhood. PATIENT CONCERNS: A Chinese boy initially presented with severe stunting and partial growth hormone deficiency (PGHD) at 3 years old and was initially treated with growth hormone replacement therapy...
February 2018: Medicine (Baltimore)
https://www.readbyqxmd.com/read/29435807/treatment-outcome-of-creatine-transporter-deficiency-international-retrospective-cohort-study
#15
Theodora U J Bruun, Sarah Sidky, Anabela O Bandeira, Francoise-Guillaume Debray, Can Ficicioglu, Jennifer Goldstein, Kairit Joost, Dwight D Koeberl, Diogo Luísa, Marie-Cecile Nassogne, Siobhan O'Sullivan, Katrin Õunap, Andreas Schulze, Lionel van Maldergem, Gajja S Salomons, Saadet Mercimek-Andrews
To evaluate the outcome of current treatment for creatine transporter (CRTR) deficiency, we developed a clinical severity score and initiated an international treatment registry. An online questionnaire was completed by physicians following patients with CRTR deficiency on a treatment, including creatine and/or arginine, and/or glycine. Clinical severity score included 1) global developmental delay/intellectual disability; 2) seizures; 3) behavioural disorder. Phenotype scored 1-3 = mild; 4-6 = moderate; and 7-9 = severe...
February 12, 2018: Metabolic Brain Disease
https://www.readbyqxmd.com/read/29428800/hepatic-transcriptional-profiling-response-to-fava-bean-induced-oxidative-stress-in-glucose-6-phosphate-dehydrogenase-deficient-mice
#16
Guankui Du, Man Xiao, Xiuyu Wei, Chen Zhou, Shuoshuo Li, Wangwei Cai
Favism is an acute hemolytic syndrome caused by the ingestion of fava bean (FB) in glucose 6-phosphate dehydrogenase (G6PD) deficient individuals. However, little is known about the global transcripts alteration in liver tissue after FB ingestion in G6PD-normal and -deficient states. In this study, deep sequencing was used to analyze liver genes expression alterations underlying the effects of FB in C3H (Wild Type, WT) and G6PD-deficient (G6PDx) mice and to evaluate and visualize the collective annotation of a list of genes to Gene Ontology (GO) terms associated with favism...
February 8, 2018: Gene
https://www.readbyqxmd.com/read/29426734/inclusion-body-myositis-and-human-immunodeficiency-virus-type-1-a-new-case-report-and-literature-review
#17
Priscille Couture, Edoardo Malfatti, Geneviève Morau, Alexis Mathian, Fleur Cohen-Aubart, Hubert Nielly, Zahir Amoura, Patrick Cherin
Prevalence of muscle disease in human immunodeficiency virus (HIV) infection is less than 1% of patients with acquired immune deficiency syndrome. Sporadic inclusion body myositis (IBM) is observed in a few cases of patients infected by retroviruses such as HIV-1. A Caucasian man was diagnosed with HIV when he was 30 years old. The viral load was undetectable and CD4 cell count was 600/mm3 when the diagnosis of inclusion body myositis was confirmed. Histological findings were typical of IBM. The treatment consisted of immunoglobulin therapy for three years without effect...
January 10, 2018: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/29425111/the-safety-of-lipistart-a-medium-chain-triglyceride-based-formula-in-the-dietary-treatment-of-long-chain-fatty-acid-disorders-a-phase-i-study
#18
Anita MacDonald, Rachel Webster, Matthew Whitlock, Adam Gerrard, Anne Daly, Mary Anne Preece, Sharon Evans, Catherine Ashmore, Anupam Chakrapani, Suresh Vijay, Saikat Santra
BACKGROUND: Children with long-chain fatty acid β-oxidation disorders (LCFAOD) presenting with clinical symptoms are treated with a specialist infant formula, with medium chain triglyceride (MCT) mainly replacing long chain triglyceride (LCT). It is essential that the safety and efficacy of any new specialist formula designed for LCFAOD be tested in infants and children. METHODS: In an open-label, 21-day, phase I trial, we studied the safety of a new MCT-based formula (feed 1) in six well-controlled children (three male), aged 7-13 years (median 9 years) with LCFAOD (very long chain acyl CoA dehydrogenase deficiency [VLCADD], n=2; long chain 3-hydroxyacyl CoA dehydrogenase deficiency [LCHADD], n=2; carnitine acyl carnitine translocase deficiency [CACTD], n=2)...
February 9, 2018: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/29409987/decreased-atp-production-and-myocardial-contractile-reserve-in-metabolic-heart-disease
#19
Ivan Luptak, Aaron L Sverdlov, Marcello Panagia, Fuzhong Qin, David R Pimentel, Dominique Croteau, Deborah A Siwik, Joanne S Ingwall, Markus M Bachschmid, James A Balschi, Wilson S Colucci
Metabolic syndrome is a cluster of obesity-related metabolic abnormalities that lead to metabolic heart disease (MHD) with left ventricular pump dysfunction. Although MHD is thought to be associated with myocardial energetic deficiency, two key questions have not been answered. First, it is not known whether there is a sufficient energy deficit to contribute to pump dysfunction. Second, the basis for the energy deficit is not clear. To address these questions, mice were fed a high fat, high sucrose (HFHS) 'Western' diet to recapitulate the MHD phenotype...
January 31, 2018: Journal of Molecular and Cellular Cardiology
https://www.readbyqxmd.com/read/29406829/human-skeletal-muscle-contains-no-detectable-guanidinoacetic-acid
#20
Sergej M Ostojic, Jelena Ostojic
We analyzed data from previously completed trials to determine the effects of supplemental guanidinoacetic acid (GAA) on markers of muscle bioenergetics in healthy men using 1.5 T magnetic resonance spectroscopy. No detectable GAA (< 0.1 µM) was found in the vastus medialis muscle at baseline nor at follow-up. This implies deficient GAA availability in the human skeletal muscle, suggesting absent or negligible potential for creatine synthesis from GAA inside this tissue, even after GAA loading.
February 6, 2018: Applied Physiology, Nutrition, and Metabolism, Physiologie Appliquée, Nutrition et Métabolisme
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