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https://www.readbyqxmd.com/read/28905877/population-specific-genetic-variation-in-large-sequencing-data-sets-why-more-data-is-still-better
#1
Jeroen G J van Rooij, Mila Jhamai, Pascal P Arp, Stephan C A Nouwens, Marijn Verkerk, Albert Hofman, M Arfan Ikram, Annemieke J Verkerk, Joyce B J van Meurs, Fernando Rivadeneira, André G Uitterlinden, Robert Kraaij
We have generated a next-generation whole-exome sequencing data set of 2628 participants of the population-based Rotterdam Study cohort, comprising 669 737 single-nucleotide variants and 24 019 short insertions and deletions. Because of broad and deep longitudinal phenotyping of the Rotterdam Study, this data set permits extensive interpretation of genetic variants on a range of clinically relevant outcomes, and is accessible as a control data set. We show that next-generation sequencing data sets yield a large degree of population-specific variants, which are not captured by other available large sequencing efforts, being ExAC, ESP, 1000G, UK10K, GoNL and DECODE...
October 2017: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/28902471/narrow-hybrid-zones-in-spite-of-very-low-population-differentiation-in-neutral-markers-in-an-island-bird-species-complex
#2
Boris Delahaie, Josselin Cornuault, Charline Masson, Joris A M Bertrand, Yann X C Bourgeois, Borja Milá, Christophe Thébaud
Patterns of phenotypic and genic frequencies across hybrid zones provide insight into the origin and evolution of reproductive isolation. The Reunion grey white-eye, Zosterops borbonicus, exhibits parapatrically distributed plumage colour forms across the lowlands of the small volcanic island of Reunion (Mascarene archipelago). These forms meet and hybridise in regions that are natural barriers to dispersal (rivers, lava fields). Here, we investigated the relationship among patterns of differentiation at neutral genetic (microsatellite) markers, phenotypic traits (morphology and plumage colour) and niche characteristics across three independent hybrid zones...
September 13, 2017: Journal of Evolutionary Biology
https://www.readbyqxmd.com/read/28899011/neuronal-intranuclear-hyaline-inclusion-disease-and-fragile-x-associated-tremor-ataxia-syndrome-a-morphological-and-molecular-dilemma
#3
Ellen Gelpi, Teresa Botta-Orfila, Laia Bodi, Stefanie Marti, Gabor Kovacs, Oriol Grau-Rivera, Manuel Lozano, Raquel Sánchez-Valle, Esteban Muñoz, Francesc Valldeoriola, Javier Pagonabarraga, Gian-Gaetano Tartaglia, Montserrat Milà
No abstract text is available yet for this article.
August 1, 2017: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/28893381/the-association-between-prenatal-stress-and%C3%A2-externalizing-symptoms-in-childhood-evidence-from-the-avon-longitudinal-study-of%C3%A2-parents-and-children
#4
Nathalie MacKinnon, Mila Kingsbury, Liam Mahedy, Jonathan Evans, Ian Colman
BACKGROUND: It has been suggested that prenatal maternal stress may increase the risk of childhood externalizing disorders, yet no large cohort study has investigated this association across a large range of acute stressors. Our objective was to estimate the association between prenatal stressful events and risk of offspring conduct disorder and hyperactivity. METHODS: We used data from 10,184 mother-offspring pairs from the United Kingdom-based Avon Longitudinal Study of Parents and Children...
July 27, 2017: Biological Psychiatry
https://www.readbyqxmd.com/read/28884366/weather-conditions-a-neglected-factor-in-human-salivary-cortisol-research
#5
Goran Milas, Daniela Šupe-Domić, Irena Drmić-Hofman, Lada Rumora, Irena Martinović Klarić
There is ample evidence that environmental stressors such as extreme weather conditions affect animal behavior and that this process is in part mediated through the elevated activity of the hypothalamic pituitary adrenal axis which results in an increase in cortisol secretion. This relationship has not been extensively researched in humans, and weather conditions have not been analyzed as a potential confounder in human studies of stress. Consequently, the goal of this paper was to assess the relationship between salivary cortisol and weather conditions in the course of everyday life and to test a possible moderating effect of two weather-related variables, the climate region and timing of exposure to outdoors conditions...
September 7, 2017: International Journal of Biometeorology
https://www.readbyqxmd.com/read/28884215/effect-of-smoking-cessation-on-quantitative-computed-tomography-in-smokers-at-risk-in-a-lung-cancer-screening-population
#6
Bertram J Jobst, Oliver Weinheimer, Mila Trauth, Nikolaus Becker, Erna Motsch, Marie-Luise Groß, Jan Tremper, Stefan Delorme, Anke Eigentopf, Monika Eichinger, Hans-Ulrich Kauczor, Mark O Wielpütz
OBJECTIVE: To longitudinally evaluate effects of smoking cessation on quantitative CT in a lung cancer screening cohort of heavy smokers over 4 years. METHODS: After 4 years, low-dose chest CT was available for 314 long-term ex-smokers (ES), 404 continuous smokers (CS) and 39 recent quitters (RQ) who quitted smoking within 2 years after baseline CT. CT acquired at baseline and after 3 and 4 years was subjected to well-evaluated densitometry software, computing mean lung density (MLD) and 15th percentile of the lung density histogram (15TH)...
September 7, 2017: European Radiology
https://www.readbyqxmd.com/read/28859428/determining-the-seasonality-of-respiratory-syncytial-virus-in-the-united-states-the-impact-of-increased-molecular-testing
#7
COMPARATIVE STUDY
Claire M Midgley, Amber K Haynes, Jason L Baumgardner, Christina Chommanard, Sara W Demas, Mila M Prill, Glen R Abedi, Aaron T Curns, John T Watson, Susan I Gerber
Background: In the United States, the seasonality of respiratory syncytial virus (RSV) has traditionally been defined on the basis of weeks during which antigen-based tests detect RSV in >10% of specimens (hereafter, the "10% threshold"). Because molecular testing has become more widely used, we explored the extent of polymerase chain reaction (PCR)-based RSV testing and its impact on determining the seasonality of RSV. Methods: We assessed antigen- and PCR-based RSV reports submitted to the National Respiratory and Enteric Virus Surveillance System during July 2005-June 2015...
August 1, 2017: Journal of Infectious Diseases
https://www.readbyqxmd.com/read/28851244/preliminary-evaluation-of-a-novel-non-linear-frequency-compression-scheme-for-use-in-children
#8
Jace Wolfe, Mila Duke, Erin C Schafer, Julia Rehmann, Siddhartha Jha, Silvia Allegro Baumann, Andrew John, Christine Jones
OBJECTIVE: The primary goal of this study was to evaluate a new form of non-linear frequency compression (NLFC) in children. The new NLFC processing scheme is adaptive and potentially allows for a better preservation of the spectral characteristics of the input sounds when compared to conventional NLFC processing. DESIGN: A repeated-measures design was utilised to compare the speech perception of the participants with two configurations of the new adaptive NLFC processing to their performance with the existing NLFC...
August 29, 2017: International Journal of Audiology
https://www.readbyqxmd.com/read/28837570/assessment-of-the-influence-of-direct-tobacco-smoke-on-infection-and-active-tb-management
#9
Neus Altet, Irene Latorre, María Ángeles Jiménez-Fuentes, José Maldonado, Israel Molina, Yoel González-Díaz, Celia Milà, Esther García-García, Beatriz Muriel, Raquel Villar-Hernández, Maisem Laabei, Andromeda-Celeste Gómez, Pere Godoy, Maria Luiza de Souza-Galvão, Segismundo Solano, Carlos A Jiménez-Ruiz, Jose Domínguez
BACKGROUND: Smoking is a risk factor for tuberculosis (TB) infection and disease progression. Tobacco smoking increases susceptibility to TB in a variety of ways, one of which is due to a reduction of the IFN-γ response. Consequently, an impaired immune response could affect performance of IFN-γ Release Assays (IGRAs). OBJECTIVE: In the present study, we assess the impact of direct tobacco smoking on radiological manifestations, sputum conversion and immune response to Mycobacterium tuberculosis, analyzing IFN-γ secretion by IGRAs...
2017: PloS One
https://www.readbyqxmd.com/read/28830837/toxicity-evaluation-of-two-polyoxotungstates-with-anti-acetylcholinesterase-activity
#10
Mirjana B Čolović, Branislava Medić, Mila Ćetković, Tamara Kravić Stevović, Marko Stojanović, Wassim W Ayass, Ali S Mougharbel, Miroslav Radenković, Milica Prostran, Ulrich Kortz, Danijela Z Krstić
A toxicity evaluation of two Keggin-type heteropolytungstates, K7[Ti2PW10O40]·6H2O and K6H[SiV3W9O40]·3H2O, with different inhibitory potencies toward acetylcholinesterase activity (IC50 values of 1.04×10(-6) and 4.80×10(-4)mol/L, respectively) was performed. Wistar albino rats were orally treated with single doses (5 and 50mg/kg) of both investigated compounds. The biochemical parameters of renal (serum urea and creatinine) and liver function (direct and total bilirubin, alanine transaminase, and aspartate aminotransferase) were determined after 24h and 14days...
October 15, 2017: Toxicology and Applied Pharmacology
https://www.readbyqxmd.com/read/28823097/epitope-mapping-of-histo-blood-group-antigens-bound-to-norovirus-vlps-using-std-nmr-experiments-reveals-fine-details-of-molecular-recognition
#11
Brigitte Fiege, Mila Leuthold, Francisco Parra, Kevin P Dalton, Peter J Meloncelli, Todd L Lowary, Thomas Peters
Attachment of human noroviruses to histo blood group antigens (HBGAs) is thought to be critical for the infection process. Therefore, we have determined binding epitopes of synthetic type 1 to 6 blood group A- and B-tetrasaccharides binding to GII.4 human Norovirus virus like particles (VLPs) using STD NMR experiments. So far, little information is available from crystal structure analysis studies on the interactions of the reducing-end sugars with the protruding domain (P-domain) of the viral coat protein VP1...
August 19, 2017: Glycoconjugate Journal
https://www.readbyqxmd.com/read/28822061/co-ultramicronized-palmitoylethanolamide-luteolin-facilitates-the-development-of-differentiating-and-undifferentiated-rat-oligodendrocyte-progenitor-cells
#12
Stephen D Skaper, Massimo Barbierato, Laura Facci, Mila Borri, Gabriella Contarini, Morena Zusso, Pietro Giusti
Oligodendrocytes, the myelin-producing cells of the central nervous system (CNS), have limited capability to bring about repair in chronic CNS neuroinflammatory demyelinating disorders such as multiple sclerosis (MS). MS lesions are characterized by a compromised pool of undifferentiated oligodendrocyte progenitor cells (OPCs) unable to mature into myelin-producing oligodendrocytes. An attractive strategy may be to replace lost OLs and/or promote their maturation. N-palmitoylethanolamine (PEA) is an endogenous fatty acid amide signaling molecule with anti-inflammatory and neuroprotective actions...
August 18, 2017: Molecular Neurobiology
https://www.readbyqxmd.com/read/28815939/paternal-transmission-of-a-fmr1-full-mutation-allele
#13
Maria Isabel Alvarez-Mora, Miriam Guitart, Laia Rodriguez-Revenga, Irene Madrigal, Elisabeth Gabau, Montserrat Milà
Fragile X syndrome (FXS) is the most common form of inherited intellectual disability (ID) and autism. In most of cases, the molecular basis of this syndrome is a CGG repeat expansion in the 5' untranslated region of the FMR1 gene. It is inherited as an X linked dominant trait, with a reduced penetrance (80% for males and 30% for females). Full mutation (FM) expansion from premutated alleles (PM) is only acquired via maternal meiosis, while paternal transmission always remains in the PM range. We present a 16-year-old girl with a mild fragile X syndrome phenotype...
August 16, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28810405/a-case-control-study-of-psychosocial-factors-and-their-relationship-to-impairment-and-functionality-in-multiple-sclerosis
#14
Laia Briones-Buixassa, Raimon Milà, Francesc X Arrufat, Josep Mª Aragonès, Enric Bufill, Olivier Luminet, Rona Moss-Morris
The stress effect on multiple sclerosis remains unclear. Moderating psychosocial factors may be involved. This study compares some of them in people with multiple sclerosis and healthy controls, and their association with disease parameters. Coping style, social support, anxiety, alexithymia and early-life stress were measured, along with impairment and functionality. People with multiple sclerosis scored significantly higher on anxiety, alexithymia, and avoidance and instinctive coping but lower in social support...
February 1, 2017: Journal of Health Psychology
https://www.readbyqxmd.com/read/28802563/metabolic-circuit-involving-free-fatty-acids-microrna-122-and-triglyceride-synthesis-in-liver-and-muscle-tissues
#15
Chofit Chai, Mila Rivkin, Liav Berkovits, Alina Simerzin, Elina Zorde-Khvalevsky, Nofar Rosenberg, Shiri Klein, Dayana Yaish, Ronen Durst, Shoshana Shpitzen, Shiran Udi, Joseph Tam, Joerg Heeren, Anna Worthmann, Christoph Schramm, Johannes Kluwe, Revital Ravid, Eran Hornstein, Hilla Giladi, Eithan Galun
BACKGROUND & AIMS: Effective treatments are needed for hepatic steatosis characterized by accumulation of triglycerides in hepatocytes, which leads to hepatocellular carcinoma. MicroRNA 122 (MIR122) is expressed only in the liver, where it regulates lipid metabolism. We investigated the mechanism by which free fatty acids (FFAs) regulate MIR122 expression and the effect of MIR122 on triglyceride synthesis. METHODS: We analyzed MIR122 promoter activity and validated its target mRNAs by transfection of luciferase reporter plasmids into Huh7, BNL-1ME, and HEK293 cultured cell lines...
August 9, 2017: Gastroenterology
https://www.readbyqxmd.com/read/28781007/critical-care-nursing-interventions-and-the-time-required-for-their-completion-in-intensive-care-units-a-delphi-study
#16
Xavier Palomar-Aumatell, Mireia Subirana-Casacuberta, Raimon Mila-Villarroel
OBJECTIVE: To determine which interventions within the Nursing Interventions Classification are most often applied in intensive care units and to validate the time required for each. METHODOLOGY: A three-stage e-Delphi was conducted; 21 panelists were recruited, seven manager nurses and 14 clinical nurses with higher degrees and more than five years experience in intensive care nursing. The first round explored the most common interventions applied. Additionally, panelists were asked to propose others...
August 3, 2017: Intensive & Critical Care Nursing: the Official Journal of the British Association of Critical Care Nurses
https://www.readbyqxmd.com/read/28770087/cryptic-lineage-divergence-in-marine-environments-genetic-differentiation-at-multiple-spatial-and-temporal-scales-in-the-widespread-intertidal-goby-gobiosoma%C3%A2-bosc
#17
Borja Milá, James L Van Tassell, Jatziri A Calderón, Lukas Rüber, Rafael Zardoya
The adaptive radiation of the seven-spined gobies (Gobiidae: Gobiosomatini) represents a classic example of how ecological specialization and larval retention can drive speciation through local adaptation. However, geographically widespread and phenotypically uniform species also do occur within Gobiosomatini. This lack of phenotypic variation across large geographic areas could be due to recent colonization, widespread gene flow, or stabilizing selection acting across environmental gradients. We use a phylogeographic approach to test these alternative hypotheses in the naked goby Gobiosoma bosc, a widespread and phenotypically invariable intertidal fish found along the Atlantic Coast of North America...
July 2017: Ecology and Evolution
https://www.readbyqxmd.com/read/28754284/temporal-transcriptome-analysis-of-the-white-rot-fungus-obba-rivulosa-shows-expression-of-a-constitutive-set-of-plant-cell-wall-degradation-targeted-genes-during-growth-on-solid-spruce-wood
#18
Mila Marinović, Maria Victoria Aguilar-Pontes, Miaomiao Zhou, Otto Miettinen, Ronald P de Vries, Miia R Mäkelä, Kristiina Hildén
The basidiomycete white-rot fungus Obba rivulosa, a close relative of Gelatoporia (Ceriporiopsis) subvermispora, is an efficient degrader of softwood. The dikaryotic O. rivulosa strain T241i (FBCC949) has been shown to selectively remove lignin from spruce wood prior to depolymerization of plant cell wall polysaccharides, thus possessing potential in biotechnological applications such as pretreatment of wood in pulp and paper industry. In this work, we studied the time-course of the conversion of spruce by the genome-sequenced monokaryotic O...
July 25, 2017: Fungal Genetics and Biology: FG & B
https://www.readbyqxmd.com/read/28718026/solid-phase-extraction-of-multi-class-pharmaceuticals-from-environmental-water-samples-onto-modified-multi-walled-carbon-nanotubes-followed-by-lc-ms-ms
#19
Bojana Lalović, Tatjana Đurkić, Marija Vukčević, Ivona Janković-Častvan, Ana Kalijadis, Zoran Laušević, Mila Laušević
In this paper, pristine and chemically treated multi-walled carbon nanotubes (MWCNTs) were employed as solid-phase extraction sorbents for the isolation and enrichment of multi-class pharmaceuticals from the surface water and groundwater, prior to liquid chromatography-tandem mass spectrometry analysis. Thirteen pharmaceuticals that belong to different therapeutical classes (erythromycin, azithromycin, sulfamethoxazole, diazepam, lorazepam, carbamazepine, metoprolol, bisoprolol, enalapril, cilazapril, simvastatin, clopidogrel, diclofenac) and two metabolites of metamizole (4-acetylaminoantipyrine and 4-formylaminoantipyrine) were selected for this study...
July 17, 2017: Environmental Science and Pollution Research International
https://www.readbyqxmd.com/read/28699426/management-of-hemothorax-after-thoracic-endovascular-aortic-repair-for-ruptured-aneurysms
#20
Mila H Ju, Michael J Nooromid, Heron E Rodriguez, Mark K Eskandari
Background Thoracic aortic aneurysm rupture is often a fatal condition. Emergent thoracic endovascular aortic repair (TEVAR) has emerged as a suitable treatment option. Unfortunately, respiratory complications from hemothorax continue to be an important cause of morbidity and mortality even after successful management of the aortic rupture. We hypothesize that early hemothorax decompression after TEVAR for ruptured aneurysms decreases the rate of postoperative respiratory complications. Methods Single-center, retrospective eight-year review of ruptured thoracic aneurysms treated with TEVAR...
January 1, 2017: Vascular
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