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https://www.readbyqxmd.com/read/28812460/myopathic-mtdna-depletion-syndrome-due-to-mutation-in-tk2-gene
#1
Elena Martín-Hernández, María Teresa García-Silva, Pilar Quijada-Fraile, María Elena Rodríguez-García, Henry Rivera, Aurelio Hernández-Laín, David Coca-Robinot, Joaquín Fernández-Toral, Joaquín Arenas, Miguel A Martín, Francisco Martínez-Azorín
Whole-exome sequencing was used to identify the disease gene(s) in a Spanish girl with failure to thrive, muscle weakness, mild facial weakness, elevated creatine kinase, deficiency of mitochondrial complex III and depletion of mtDNA. With whole-exome sequencing data, it was possible to get the whole mtDNA sequencing and discard any pathogenic variant in this genome. The analysis of whole exome uncovered a homozygous pathogenic mutation in thymidine kinase 2 gene ( TK2; NM_004614.4:c.323 C>T, p.T108M)...
September 2017: Pediatric and Developmental Pathology
https://www.readbyqxmd.com/read/28811513/altered-cerebellar-biochemical-profiles-in-infants-born-prematurely
#2
Marie Brossard-Racine, Jonathan Murnick, Marine Bouyssi-Kobar, Janie Coulombe, Taeun Chang, Catherine Limperopoulos
This study aims to compare the cerebellar biochemical profiles in preterm (PT) infants evaluated at term equivalent age (TEA) and healthy full-term newborns using proton magnetic resonance spectroscopy ((1)H-MRS). We explore the associations between altered cerebellar metabolite profiles and brain injury topography, severity of injury, and prematurity-related clinical complications. We prospectively collected high quality (1)H-MRS in 59 premature infants born ≤32 weeks and 61 healthy full term controls. (1)H-MRS data were processed using LCModel software to calculate absolute metabolite concentration for N-acetyl-aspartate (NAA), choline (Cho) and creatine (Cr)...
August 15, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28810996/rhabdomyolysis-after-crawling-military-training
#3
Danit Atias-Varon, Haggai Sherman, Ran Yanovich, Yuval Heled
INTRODUCTION: Rhabdomyolysis is a syndrome characterized by muscle necrosis followed by release of intracellular muscle contents into the circulation. Exertional rhabdomyolysis (ER) occurs in response to nonfamiliar and/or excessive, prolonged, or repetitive exercises, with eccentric characteristics. In military populations, due to the type of intense, all out physical loads, ER is a significant threat, particularly when training under heat stress. However, many other etiologies exist, and clinical presentations vary greatly...
July 2017: Military Medicine
https://www.readbyqxmd.com/read/28810581/protective-effect-of-glycyrrhizin-on-myocardial-ischemia-reperfusion-injury-induced-oxidative-stress-inducible-nitric-oxide-synthase-and-inflammatory-reactions-through-high-mobility-group-box-1-and-mitogen-activated-protein-kinase-expression
#4
Xiangna Cai, Xin Wang, Jilin Li, Shuying Chen
Glycyrrhizin, which is a type of perennial leguminous caudex, has been used in various Asian countries, including P.R. China, India and Japan, for thousands of years. The present study was designed to investigate the protective effect of glycyrrhizin on myocardial ischemia/reperfusion (I/R) injury through oxidative stress, inducible nitric oxide synthase (iNOS), and inflammatory reactions via high-mobility group box 1 (HMGB1) and mitogen-activated protein kinase (MAPK) expression. Sprague-Dawley rats were divided into five groups: Sham; myocardial I/R injury + non-treated; myocardial I/R injury + 2 mg/kg glycyrrhizin; myocardial I/R injury + 4 mg/kg glycyrrhizin; and myocardial I/R injury + 10 mg/kg glycyrrhizin...
August 2017: Experimental and Therapeutic Medicine
https://www.readbyqxmd.com/read/28810547/salvianolic-acid-a-protects-against-myocardial-ischemia-reperfusion-injury-by-reducing-platelet-activation-and-inflammation
#5
Xiaoling Yuan, Yijia Xiang, Ning Zhu, Xuyong Zhao, Shiyong Ye, Peng Zhong, Chunlai Zeng
The aim of the present study was to investigate the protective effect of salvianolic acid A (SAA) on myocardial ischemia/reperfusion injury in rats. SAA (10 mg/kg) or Tirofiban (60 µg/kg) was administered to rats by jugular vein injection 10 min before the initiation of reperfusion. After 3 h of reperfusion, platelet aggregation was measured using an aggregometer and levels of nitric oxide (NO) were detected using an ultraviolet spectrophotometer. Serum levels of cardiac troponin T (cTnT), creatine kinase isoenzyme MB (CK-MB), p-selectin, interleukin-1β (IL-1β) and tumor necrosis factor-α (TNF-α) were also measured 3 and 24 h after reperfusion...
August 2017: Experimental and Therapeutic Medicine
https://www.readbyqxmd.com/read/28810230/a-novel-hydrophilic-interaction-liquid-chromatography-method-for-the-determination-of-underivatized-amino-acids-in-alimentary-supplements
#6
Thomas Themelis, Roberto Gotti, Rita Gatti
Amino acids playing important roles in metabolic processes are often included in dietary supplements whose use has largely expanded over the last 20 years not only in patients with particular deficiencies, but also in athletes and even common people that want to enrich their regular daily diet. In the present study, a bare silica Kinetex core-shell 2.6μm HILIC column was used for separation of some important hydrophilic amino acids and amino acids-like molecules i.e., aspartic acid, creatine, carnitine, arginine and the tripeptide glutathione (GSH), by optimizing the chromatographic conditions for their determination in complex alimentary supplements...
August 4, 2017: Journal of Pharmaceutical and Biomedical Analysis
https://www.readbyqxmd.com/read/28808834/biochemical-and-behavioral-phenotype-of-agat-and-gamt-deficient-mice-following-long-term-creatine-monohydrate-supplementation
#7
Furhan Iqbal, Herald Hoeger, Gurt Lubec, Olaf Bodamer
The creatine/phosphocreatine system is essential for cellular phosphate coupled energy storage and production. We investigated the utility of creatine monohydrate supplementation in two different creatine deficient knockout mouse models. Following weaning, female Arginine: Glycine Amidinotransferase (AGAT) and Guanidinoacetate: methyltransferase (GAMT) knockouts and wild type mice were studied based on their genotypes and dietary supplementation (creatine free or 2% creatine monohydrate supplemented diet) for 10 weeks, using a series of behavioral tests and biochemical analyzes...
August 14, 2017: Metabolic Brain Disease
https://www.readbyqxmd.com/read/28808723/plasma-metabolite-abundances-are-associated-with-urinary-enterolactone-excretion-in-healthy-participants-on-controlled-diets
#8
Fayth L Miles, Sandi L Navarro, Yvonne Schwarz, Haiwei Gu, Danijel Djukovic, Timothy W Randolph, Ali Shojaie, Mario Kratz, Meredith A J Hullar, Paul D Lampe, Marian L Neuhouser, Daniel Raftery, Johanna W Lampe
Enterolignans, products of gut bacterial metabolism of plant lignans, have been associated with reduced risk of chronic diseases, but their association with other plasma metabolites is unknown. We examined plasma metabolite profiles according to urinary enterolignan excretion in a cross-sectional analysis using data from a randomized crossover, controlled feeding study. Eighty healthy adult males and females completed two 28-day feeding periods differing by glycemic load, refined carbohydrate, and fiber content...
August 15, 2017: Food & Function
https://www.readbyqxmd.com/read/28807772/streptococcus-agalactiae-impairs-cerebral-bioenergetics-in-experimentally-infected-silver-catfish
#9
Matheus D Baldissera, Carine F Souza, Belisa S Parmeggiani, Roberto C V Santos, Guilhian Leipnitz, Karen L S Moreira, Maria Izabel U M da Rocha, Marcelo L da Veiga, Bernardo Baldisserotto
It is becoming evident that bacterial infectious diseases affect brain energy metabolism, where alterations of enzymatic complexes of the mitochondrial respiratory chain and creatine kinase (CK) lead to an impairment of cerebral bioenergetics which contribute to disease pathogenesis in the central nervous system (CNS). Based on this evidence, the aim of this study was to evaluate whether alterations in the activity of complex IV of the respiratory chain and CK contribute to impairment of cerebral bioenergetics during Streptococcus agalactiae infection in silver catfish (Rhamdia quelen)...
August 11, 2017: Microbial Pathogenesis
https://www.readbyqxmd.com/read/28807665/a-comparative-study-of-care-practices-for-young-boys-with-duchenne-muscular-dystrophy-between-japan-and-european-countries-implications-of-early-diagnosis
#10
Fumi Takeuchi, Hirofumi Komaki, Zentaro Yamagata, Kazushi Maruo, Sunil Rodger, Janbernd Kirschner, Takeo Kubota, En Kimura, Shin'ichi Takeda, Kathrin Gramsch, Julia Vry, Kate Bushby, Hanns Lochmüller, Keiji Wada, Harumasa Nakamura
Early diagnosis of Duchenne muscular dystrophy (DMD) is widely advocated to initiate proactive interventions and genetic counselling. Genetic testing now allows the diagnosis of DMD even prior to the onset of symptoms. However, little is known about care practices and their impact on young DMD boys and families after receiving an early diagnosis. We analysed 64 young boys (Japan, 19; the United Kingdom, 10; Germany, 18; Hungary, 6; Poland, 5; and the Czech Republic, 6) aged <5 years and diagnosed at ≤2 years old among the participants of the cross-sectional study about care practice in DMD...
July 6, 2017: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/28807461/the-effects-of-statins-on-exercise-and-physical-activity
#11
REVIEW
Adam M Noyes, Paul D Thompson
OBJECTIVE: We sought to review studies examining the effect of statins on symptoms of exercise tolerance, markers of muscle injury and activity levels in physical active individuals. BACKGROUND: Statin therapy reduces atherosclerotic cardiovascular disease (CVD) events. Regular physical activity is also associated with reduced CVD events, but statin therapy can produce muscle complaints, which may be more frequent in physically active individuals. We reviewed the literature to determine the effects of statins on symptoms, exercise performance and activity levels in physically active individuals...
July 21, 2017: Journal of Clinical Lipidology
https://www.readbyqxmd.com/read/28807458/caveolin-3-deficiency-myopathy-associated-with-dyslipidemia-treatment-challenges-and-possible-pathophysiological-association
#12
Daiana Ibarretxe, Joan Pellejà, Nicolau Ortiz, Luis Masana
We report the case of a patient treated at the lipid clinic because of high cholesterol levels with consistently elevated creatine kinase concentrations that precluded statin treatment. Electromyography showed a rippling muscle disease pattern. A muscle biopsy confirmed caveolin 3 deficiency, and a missense mutation in the CAV3 gene was identified. The patient could be properly managed with ezetimibe and cholestyramine, which reduced the low-density lipoprotein cholesterol by 30%. He remains asymptomatic after 10 years of follow-up...
August 1, 2017: Journal of Clinical Lipidology
https://www.readbyqxmd.com/read/28807060/current-dietary-supplement-use-of-australian-military-veterans-of-middle-east-operations
#13
Jolieke C van der Pols, Jeeva Kanesarajah, Alison Bell, Chi-Wai Lui
OBJECTIVE: To assess patterns and levels of dietary supplement use among Australian Defence Forces, previously deployed to the Middle East Area of Operations. DESIGN: A cross-sectional study. Participants of a large survey self-completed questions about dietary supplement use, health status, personal and job-related characteristics, and lifestyle factors. Frequency of current use of supplements was assessed in three categories (bodybuilding, energy and weight loss)...
August 15, 2017: Public Health Nutrition
https://www.readbyqxmd.com/read/28806770/increasing-creatine-kinase-activity-protects-against-hypoxia-reoxygenation-injury-but-not-against-anthracycline-toxicity-in-vitro
#14
Sevasti Zervou, Hannah J Whittington, Philip J Ostrowski, Fang Cao, Jack Tyler, Hannah A Lake, Stefan Neubauer, Craig A Lygate
The creatine kinase (CK) phosphagen system is fundamental to cellular energy homeostasis. Cardiomyocytes express three CK isoforms, namely the mitochondrial sarcomeric CKMT2 and the cytoplasmic CKM and CKB. We hypothesized that augmenting CK in vitro would preserve cell viability and function and sought to determine efficacy of the various isoforms. The open reading frame of each isoform was cloned into pcDNA3.1, followed by transfection and stable selection in human embryonic kidney cells (HEK293). CKMT2- CKM- and CKB-HEK293 cells had increased protein and total CK activity compared to non-transfected cells...
2017: PloS One
https://www.readbyqxmd.com/read/28806444/eliminating-creatine-kinase-myocardial-band-testing-in-suspected-acute-coronary-syndrome-a-value-based-quality-improvement
#15
Matthew D Alvin, Allan S Jaffe, Roy C Ziegelstein, Jeffrey C Trost
Cardiac biomarker testing is estimated to occur in nearly 30 million emergency department visits nationwide each year in the United States. The American College of Cardiology/European Society of Cardiology indicate that cardiac troponin is the biomarker of choice owing to its nearly absolute myocardial tissue specificity and high clinical sensitivity for myocardial injury. Multiple academic medical centers have implemented interventions to eliminate the routine ordering of creatine kinase-myocardial band tests, with published patient safety outcomes data; however, creatine kinase-myocardial band testing is still ordered in many hospitals and emergency departments...
August 14, 2017: JAMA Internal Medicine
https://www.readbyqxmd.com/read/28806275/effects-of-creatine-and-carbohydrate-loading-on-cycling-time-trial-performance
#16
Kristyen A Tomcik, Donny M Camera, Julia L Bone, Megan L Ross, Nikki A Jeacocke, Bill Tachtsis, Joan Senden, Luc J C van Loon, John A Hawley, Louise M Burke
INTRODUCTION: Creatine- and carbohydrate-loading are dietary strategies used to enhance exercise capacity. This study examined the metabolic and performance effects of a combined creatine and CHO-loading regiment on time-trial (TT) cycling bouts. METHODS: Eighteen well-trained (~65mL[BULLET OPERATOR]kg[BULLET OPERATOR]min VO2peak) males completed three performance trials (PT) comprised of a 120-km cycling TT interspersed with alternating 1- and 4-km sprints (6 sprints each) performed every 10-km followed by an inclined ride to fatigue (~90% VO2peak)...
August 11, 2017: Medicine and Science in Sports and Exercise
https://www.readbyqxmd.com/read/28806067/immunosensor-employing-stable-solid-1-amino-2-naphthyl-phosphate-and-ammonia-borane-toward-ultrasensitive-and-simple-point-of-care-testing
#17
Jeongwook Seo, Hyeri Ha, Seonhwa Park, Al-Monsur Jiaul Haque, Sinyoung Kim, Jung Min Joo, Haesik Yang
Biosensors for ultrasensitive point-of-care testing require dried reagents with long-term stability and a high signal-to-background ratio. Although ortho-substituted diaromatic dihydroxy and aminohydroxy compounds undergo fast redox reactions, they are not used as electrochemical signaling species because they are readily oxidized and polymerized by dissolved oxygen. In this report, stable, solid 1-amino-2-naphthyl phosphate (1A2N-P) and ammonia-borane (H3N-BH3) are respectively employed as a substrate for alkaline phosphatase (ALP) and a reductant for electrochemical-chemical (EC) redox cycling...
August 14, 2017: ACS Sensors
https://www.readbyqxmd.com/read/28804634/muscle-mri-findings-in-a-one-year-old-girl-with-merosin-deficient-congenital-muscular-dystrophy-type-1a-due-to-lama2-mutation-a-case-report
#18
Yingyin Liang, Guidian Li, Songlin Chen, Rongxing He, Xiangxue Zhou, Yingming Chen, Xue Xu, Ronglan Zhu, Cheng Zhang
The objective of the present study was to characterize the muscle magnetic resonance imaging (MRI) features of a 1-year-old girl with merosin-deficient congenital muscular dystrophy type 1A (MDC1A). Beginning as an infant, this patient exhibited severe hypotonia and proximal weakness, as well as delays in developmental milestones. Her serum creatine kinase levels at 3 months, 8 months and 1 year were 2,959, 1,621 and 1,659 U/l, respectively. Brain MRI indicated symmetric, mild T1WI low, mild T2WI and FLAIR high radial patterns in the white matter of the Cornu posterius of the ventricular lateral...
August 2017: Biomedical Reports
https://www.readbyqxmd.com/read/28803850/association-of-exposure-to-manganese-and-iron-with-striatal-and-thalamic-gaba-and-other-neurometabolites-neuroimaging-results-from-the-weldox-ii-study
#19
Swaantje Casjens, Urike Dydak, Shalmali Dharmadhikari, Anne Lotz, Martin Lehnert, Clara Quetscher, Christoph Stewig, Benjamin Glaubitz, Tobias Schmidt-Wilcke, David Edmondson, Chien-Lin Yeh, Tobias Weiss, Christoph van Thriel, Lennard Herrmann, Siegfried Muhlack, Dirk Woitalla, Michael Aschner, Thomas Brüning, Beate Pesch
OBJECTIVE: Magnetic resonance spectroscopy (MRS) is a non-invasive method to quantify neurometabolite concentrations in the brain. Within the framework of the WELDOX II study, we investigated the association of exposure to manganese (Mn) and iron (Fe) with γ-aminobutyric acid (GABA) and other neurometabolites in the striatum and thalamus of 154 men. MATERIAL AND METHODS: GABA-edited and short echo-time MRS at 3T was used to assess brain levels of GABA, glutamate, total creatine (tCr) and other neurometabolites...
August 10, 2017: Neurotoxicology
https://www.readbyqxmd.com/read/28802038/trem2-maintains-microglial-metabolic-fitness-in-alzheimer-s-disease
#20
Tyler K Ulland, Wilbur M Song, Stanley Ching-Cheng Huang, Jason D Ulrich, Alexey Sergushichev, Wandy L Beatty, Alexander A Loboda, Yingyue Zhou, Nigel J Cairns, Amal Kambal, Ekaterina Loginicheva, Susan Gilfillan, Marina Cella, Herbert W Virgin, Emil R Unanue, Yaming Wang, Maxim N Artyomov, David M Holtzman, Marco Colonna
Elevated risk of developing Alzheimer's disease (AD) is associated with hypomorphic variants of TREM2, a surface receptor required for microglial responses to neurodegeneration, including proliferation, survival, clustering, and phagocytosis. How TREM2 promotes such diverse responses is unknown. Here, we find that microglia in AD patients carrying TREM2 risk variants and TREM2-deficient mice with AD-like pathology have abundant autophagic vesicles, as do TREM2-deficient macrophages under growth-factor limitation or endoplasmic reticulum (ER) stress...
August 10, 2017: Cell
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