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https://www.readbyqxmd.com/read/29348134/cerebral-mitochondrial-microangiopathy-leads-to-leukoencephalopathy-in-mitochondrial-neurogastrointestinal-encephalopathy
#1
L L Gramegna, A Pisano, C Testa, D N Manners, R D'Angelo, E Boschetti, F Giancola, L Pironi, L Caporali, M Capristo, M L Valentino, G Plazzi, C Casali, M T Dotti, G Cenacchi, M Hirano, C Giordano, P Parchi, R Rinaldi, R De Giorgio, R Lodi, V Carelli, C Tonon
BACKGROUND AND PURPOSE: Mitochondrial neurogastrointestinal encephalopathy is a rare disorder due to recessive mutations in the thymidine phosphorylase gene, encoding thymidine phosphorylase protein required for mitochondrial DNA replication. Clinical manifestations include gastrointestinal dysmotility and diffuse asymptomatic leukoencephalopathy. This study aimed to elucidate the mechanisms underlying brain leukoencephalopathy in patients with mitochondrial neurogastrointestinal encephalopathy by correlating multimodal neuroradiologic features to postmortem pathology...
January 18, 2018: AJNR. American Journal of Neuroradiology
https://www.readbyqxmd.com/read/29346631/anticardiolipin-antibodies-and-12-month-graft-function-in-kidney-transplant-recipients-a-prognosis-cohort-survey
#2
Marion Gauthier, Florence Canoui-Poitrine, Esther Guéry, Dominique Desvaux, Sophie Hue, Guillaume Canaud, Thomas Stehle, Philippe Lang, Tomek Kofman, Philippe Grimbert, Marie Matignon
Background: In kidney transplant recipients, anticardiolipin (ACL) antibodies without antiphospholipid syndrome (APS) are found in up to 38% of patients and could be associated with thrombotic events (TEs). However, the prognostic role of ACL regarding kidney transplant and patients outcomes have still not been well defined. Methods: We conducted an observational, monocentric, retrospective cohort study including 446 kidney transplant recipients and standardized follow-up: 36-month allograft and patient survival, 12-month estimated glomerular filtration rate (eGFR) and 3- and 12-month screening biopsies...
January 16, 2018: Nephrology, Dialysis, Transplantation
https://www.readbyqxmd.com/read/29345930/%C3%AE-amino-%C3%AE-carboxymuconate-%C3%AE%C2%B5-semialdehyde-decarboxylase-acmsd-inhibitors-as-novel-modulators-of-de-novo-nicotinamide-adenine-dinucleotide-nad-biosynthesis
#3
Roberto Pellicciari, Paride Liscio, Nicola Giacchè, Francesca De Franco, Andrea Carotti, Janet Robertson, Lucia Cialabrini, Elena Katsyuba, Nadia Raffaelli, Johan Auwerx
NAD+ has a central function in linking cellular metabolism to major cell signaling and gene regulation pathways. Defects in NAD+ homeostasis underpin a wide range of diseases, including cancer, metabolic disorders, and aging. Whilst the beneficial effects of NAD+ boosting are well established in mitochondrial fitness, metabolism, and lifespan, to date, no therapeutic enhancers of de novo NAD+ biosynthesis have been reported. Herein we report the discovery of 3-[[[5-cyano-1,6-dihydro-6-oxo-4-(2-thienyl)-2-pyrimidinyl]thio]methyl]phenylacetic acid (TES-1025, 22) the first potent and selective inhibitor of human ACMSD (IC50 = 0...
January 18, 2018: Journal of Medicinal Chemistry
https://www.readbyqxmd.com/read/29339345/optimizing-critical-source-control-of-five-priority-regulatory-trace-elements-from-industrial-wastewater-in-china-implications-for-health-management
#4
Wenjun Wu, Jinnan Wang, Yang Yu, Hongqiang Jiang, Nianlei Liu, Jun Bi, Miaomiao Liu
Anthropogenic emissions of toxic trace elements (TEs) have caused worldwide concern due to their adverse effects on human health and ecosystems. Based on a stochastic simulation of factors' probability distribution, we established a bottom-up model to estimate the amounts of five priority-regulatory TEs released to aquatic environments from industrial processes in China. Total TE emissions in China in 2010 were estimated at approximately 2.27 t of Hg, 310.09 t of As, 318.17 t of Pb, 79.72 t of Cd, and 1040...
January 13, 2018: Environmental Pollution
https://www.readbyqxmd.com/read/29335654/microwave-squid-multiplexer-demonstration-for-cosmic-microwave-background-imagers
#5
B Dober, D T Becker, D A Bennett, S A Bryan, S M Duff, J D Gard, J P Hays-Wehle, G C Hilton, J Hubmayr, J A B Mates, C D Reintsema, L R Vale, J N Ullom
Key performance characteristics are demonstrated for the microwave SQUID multiplexer (µmux) coupled to transition edge sensor (TES) bolometers that have been optimized for cosmic microwave background (CMB) observations. In a 64-channel demonstration, we show that the µmux produces a white, input referred current noise level of [Formula: see text] at -77 dB microwave probe tone power, which is well below expected fundamental detector and photon noise sources for a ground-based CMB-optimized bolometer. Operated with negligible photon loading, we measure [Formula: see text] in the TES-coupled channels biased at 65% of the sensor normal resistance...
December 2017: Applied Physics Letters
https://www.readbyqxmd.com/read/29335548/paternal-easirnas-regulate-parental-genome-dosage-in-arabidopsis
#6
German Martinez, Philip Wolff, Zhenxing Wang, Jordi Moreno-Romero, Juan Santos-González, Lei Liu Conze, Christopher DeFraia, R Keith Slotkin, Claudia Köhler
The regulation of parental genome dosage is of fundamental importance in animals and plants, as exemplified by X-chromosome inactivation and dosage compensation. The 'triploid block' is a classic example of dosage regulation in plants that establishes a reproductive barrier between species differing in chromosome number1,2. This barrier acts in the embryo-nourishing endosperm tissue and induces the abortion of hybrid seeds through a yet unknown mechanism 3 . Here we show that depletion of paternal epigenetically activated small interfering RNAs (easiRNAs) bypasses the triploid block in response to increased paternal ploidy in Arabidopsis thaliana...
January 15, 2018: Nature Genetics
https://www.readbyqxmd.com/read/29332159/transposable-elements-genome-innovation-chromosome-diversity-and-centromere-conflict
#7
REVIEW
Savannah J Klein, Rachel J O'Neill
Although it was nearly 70 years ago when transposable elements (TEs) were first discovered "jumping" from one genomic location to another, TEs are now recognized as contributors to genomic innovations as well as genome instability across a wide variety of species. In this review, we illustrate the ways in which active TEs, specifically retroelements, can create novel chromosome rearrangements and impact gene expression, leading to disease in some cases and species-specific diversity in others. We explore the ways in which eukaryotic genomes have evolved defense mechanisms to temper TE activity and the ways in which TEs continue to influence genome structure despite being rendered transpositionally inactive...
January 13, 2018: Chromosome Research
https://www.readbyqxmd.com/read/29329212/study-of-the-thermal-properties-and-the-fire-performance-of-flame-retardant-organic-pcm-in-bulk-form
#8
Anabel Palacios, Alvaro De Gracia, Laia Haurie, Luisa F Cabeza, A Inés Fernández, Camila Barreneche
The implementation of organic phase change materials (PCMs) in several applications such as heating and cooling or building comfort is an important target in thermal energy storage (TES). However, one of the major drawbacks of organic PCMs implementation is flammability. The addition of flame retardants to PCMs or shape-stabilized PCMs is one of the approaches to address this problem and improve their final deployment in the building material sector. In this study, the most common organic PCM, Paraffin RT-21, and fatty acids mixtures of capric acid (CA), myristic acid (MA), and palmitic acid (PA) in bulk, were tested to improve their fire reaction...
January 12, 2018: Materials
https://www.readbyqxmd.com/read/29322301/effects-of-short-term-dhea-intake-on-hormonal-responses-in-young-recreationally-trained-athletes-modulation-by-gender
#9
Katia Collomp, Corinne Buisson, Nicolas Gravisse, Soraya Belgherbi, Zakaria Labsy, Manh-Cuong Do, Olivier Gagey, Sophie Dufay, Nancy Vibarel-Rebot, Michel Audran
BACKGROUND: Dehydroepiandrosterone (DHEA) figures on the World Anti-Doping Agency list of prohibited substances in sport because it is assumed that athletes expect a significant increase in testosterone through DHEA administration. The literature on the hormonal effects of DHEA intake nevertheless appears to be very scant in healthy young subjects, especially women. PURPOSE: We examined the effects of DHEA on adrenal and gonadal hormones, IGF1 and free T3 in healthy young male and female recreationally trained volunteers...
January 10, 2018: Endocrine
https://www.readbyqxmd.com/read/29321305/arabidopsis-rna-polymerase-v-mediates-enhanced-compaction-and-silencing-of-geminivirus-and-transposon-chromatin-during-host-recovery-from-infection
#10
Tami Coursey, Elizabeth Regedanz, David M Bisaro
Plants employ RNA-directed DNA methylation (RdDM) and dimethylation of histone 3 lysine 9 (H3K9me2) to silence geminiviruses and transposable elements (TEs). We previously showed that canonical RdDM (Pol IV-RdDM) involving RNA polymerases IV and V (Pol IV and Pol V) is required for Arabidopsis thaliana to recover from infection with Beet curly top virus lacking a suppressor protein that inhibits methylation (BCTV L2-). Recovery, which is characterized by reduced viral DNA levels and symptom remission, allows normal floral development...
January 10, 2018: Journal of Virology
https://www.readbyqxmd.com/read/29315321/inner-cell-mass-incarceration-in-8-shaped-blastocysts-does-not-increase-monozygotic-twinning-in-preimplantation-genetic-diagnosis-and-screening-patients
#11
Yi-Fan Gu, Qin-Wei Zhou, Shuo-Ping Zhang, Chang-Fu Lu, Fei Gong, Yue-Qiu Tan, Guang-Xiu Lu, Ge Lin
BACKGROUND: The use of assisted reproductive technology (ART) has been reported to increase the incidence of monozygotic twinning (MZT) compared with the incidence following natural conception. It has been hypothesized that splitting of the inner cell mass (ICM) through a small zona hole may result in MZT. In this study, using a cohort of patients undergoing preimplantation genetic diagnosis/screening (PGD/PGS), we compared the clinical and neonatal outcomes of human 8-shaped blastocysts hatching with ICM incarceration with partially or fully hatched blastocysts, and attempted to verify whether this phenomenon increases the incidence of MZT pregnancy or negatively impact newborns...
2018: PloS One
https://www.readbyqxmd.com/read/29315213/identification-of-transposable-elements-contributing-to-tissue-specific-expression-of-long-non-coding-rnas
#12
Takafumi Chishima, Junichi Iwakiri, Michiaki Hamada
It has been recently suggested that transposable elements (TEs) are re-used as functional elements of long non-coding RNAs (lncRNAs). This is supported by some examples such as the human endogenous retrovirus subfamily H (HERVH) elements contained within lncRNAs and expressed specifically in human embryonic stem cells (hESCs), as required to maintain hESC identity. There are at least two unanswered questions about all lncRNAs. How many TEs are re-used within lncRNAs? Are there any other TEs that affect tissue specificity of lncRNA expression? To answer these questions, we comprehensively identify TEs that are significantly related to tissue-specific expression levels of lncRNAs...
January 9, 2018: Genes
https://www.readbyqxmd.com/read/29299665/effects-of-skin-surface-cooling-before-exercise-on-lactate-accumulation-in-cool-environment
#13
Daiki Imai, Ryosuke Takeda, Akina Suzuki, Nooshin Naghavi, Yoshihiro Yamashina, Akemi Ota, Shinya Matsumura, Hisayo Yokoyama, Toshiaki Miyagawa, Kazunobu Okazaki
PURPOSE: We assessed whether plasma lactate accumulation increased and the lactate threshold (LT) declined when the skin temperature was lowered by whole body skin surface cooling before exercise in cool, but not temperate, conditions, and whether the lowered LT was associated with sympathetic activation or lowered plasma volume (PV) by cold-induced diuresis. METHODS: Ten healthy subjects performed a graded maximal cycling exercise after pre-conditioning under three different conditions for 60 min...
January 3, 2018: European Journal of Applied Physiology
https://www.readbyqxmd.com/read/29297699/on-the-search-for-retrotransposons-alternative-protocols-to-obtain-sequences-to-learn-profile-hidden-markov-models
#14
Carlos N Fischer, Victor De A Campos, Victor H Barella
Profile hidden Markov models (pHMMs) have been used to search for transposable elements (TEs) in genomes. For the learning of pHMMs aimed to search for TEs of the retrotransposon class, the conventional protocol is to use the whole internal nucleotide portions of these elements as representative sequences. To further explore the potential of pHMMs in such a search, we propose five alternative ways to obtain the sets of representative sequences of TEs other than the conventional protocol. In this study, we are interested in Bel-PAO, Copia, Gypsy, and DIRS superfamilies from the retrotransposon class...
January 3, 2018: Journal of Computational Biology: a Journal of Computational Molecular Cell Biology
https://www.readbyqxmd.com/read/29297166/spatial-variations-and-sources-of-trace-elements-in-recent-snow-from-glaciers-at-the-tibetan-plateau
#15
Ju Huang, Yuefang Li, Zhen Li, Longfei Xiong
Trace elements (TEs) could pose a potential threat to the environment and human health and hence they have been paid attention increasingly at present. This study presents the acid-leached concentrations of TEs (e.g., Al, As, Ba, Co, Cr, Cs, Cu, Fe, Li, Mn, Mo, Pb, Rb, Sb, Sr, Ti, Tl, U, V) and dust content sampled from Qiumianleike (QMLK), Meikuang (MK), Yuzhufeng (YZF), Xiaodongkemadi (XDKMD), Gurenhekou (GRHK) glaciers on the Tibetan Plateau (TP) from April to May in 2013. A nonparametric Jonckheere-Terpstra Method was used to test the trend of spatial distribution of TEs...
January 3, 2018: Environmental Science and Pollution Research International
https://www.readbyqxmd.com/read/29290171/health-care-costs-and-thromboembolic-events-in-hydroxyurea-treated-patients-with-polycythemia-vera
#16
Shreekant V Parasuraman, Nianwen Shi, Dilan C Paranagama, Machaon Bonafede
BACKGROUND: Patients with polycythemia vera (PV) are at increased risk of thromboembolic events (TEs), which are key contributors to reduced overall survival compared with the age- and sex-matched general population. In addition to aspirin and phlebotomy to maintain hematocrit level < 45%, many patients receive cytoreduction with hydroxyurea (HU), which is associated with improved survival and may reduce the risk of cardiovascular events and TEs. However, 1 in 4 patients become resistant to or intolerant of HU...
January 2018: Journal of Managed Care & Specialty Pharmacy
https://www.readbyqxmd.com/read/29286400/experimental-column-setup-for-studying-anaerobic-biogeochemical-interactions-between-iron-oxy-hydroxides-trace-elements-and-bacteria
#17
Jennifer Hellal, André Burnol, Aude Locatelli, Fabienne Battaglia-Brunet
Fate and speciation of trace elements (TEs), such as arsenic (As) and mercury (Hg), in aquifers are closely related to physio-chemical conditions, such as redox potential (Eh) and pH, but also to microbial activities that can play a direct or indirect role on speciation and/or mobility. Indeed, some bacteria can directly oxidize As(III) to As(V) or reduce As(V) to As(III). Likewise, bacteria are strongly involved in Hg cycling, either through its methylation, forming the neurotoxin monomethyl mercury, or through its reduction to elemental Hg°...
December 19, 2017: Journal of Visualized Experiments: JoVE
https://www.readbyqxmd.com/read/29283188/analyzing-horizontal-transfer-of-transposable-elements-on-a-large-scale-challenges-and-prospects
#18
Jean Peccoud, Richard Cordaux, Clément Gilbert
Whoever compares the genomes of distantly related species might find aberrantly high sequence similarity at certain loci. Such anomaly can only be explained by genetic material being transferred through other means than reproduction, that is, a horizontal transfer (HT). Between multicellular organisms, the transferred material will likely turn out to be a transposable element (TE). Because TEs can move between loci and invade chromosomes by replicating themselves, HT of TEs (HTT) profoundly impacts genome evolution...
December 28, 2017: BioEssays: News and Reviews in Molecular, Cellular and Developmental Biology
https://www.readbyqxmd.com/read/29281015/recent-activity-in-expanding-populations-and-purifying-selection-have-shaped-transposable-element-landscapes-across-natural-accessions-of-the-mediterranean-grass-brachypodium-distachyon
#19
Christoph Stritt, Sean P Gordon, Thomas Wicker, John P Vogel, Anne C Roulin
Transposable element (TE) activity has emerged as a major cause of variation in genome size and structure among species. To what extent TEs contribute to genetic variation and divergence within species, however, is much less clear, mainly because population genomic data have so far only been available for the classical model organisms. In this study, we use the annual Mediterranean grass Brachypodium distachyon to investigate TE dynamics in natural populations. Using whole-genome sequencing data for 53 natural accessions, we identified more than 5400 TE polymorphisms across the studied genomes...
December 21, 2017: Genome Biology and Evolution
https://www.readbyqxmd.com/read/29275169/testosterone-induces-hyporesponsiveness-by-interfering-with-ip3-receptors-in-guinea-pig-airway-smooth-muscle
#20
Luis M Montaño, Edgar Flores-Soto, Jorge Reyes-García, Verónica Díaz-Hernández, Abril Carbajal-García, Elías Campuzano-González, G Lizbeth Ramírez-Salinas, Marco A Velasco-Velázquez, Bettina Sommer
Asthma symptoms have been associated with sex steroids. During childhood, this illness seems more frequent in boys than in girls and this tendency reverts in puberty when it is more severe in women. Testosterone (TES), at supraphysiological concentrations, relaxed pre-contracted airway smooth muscle, but its effects at physiological concentrations have not been thoroughly studied. We explored this possibility in guinea pig tracheal smooth muscle. In myocytes TES (10 nM) abolished carbachol (CCh)-induced intracellular Ca2+ concentration ([Ca2+]i) increment...
December 21, 2017: Molecular and Cellular Endocrinology
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