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https://www.readbyqxmd.com/read/29184211/whole-genome-sequencing-in-psychiatric-disorders-the-wgspd-consortium
#1
Stephan J Sanders, Benjamin M Neale, Hailiang Huang, Donna M Werling, Joon-Yong An, Shan Dong, Goncalo Abecasis, P Alexander Arguello, John Blangero, Michael Boehnke, Mark J Daly, Kevin Eggan, Daniel H Geschwind, David C Glahn, David B Goldstein, Raquel E Gur, Robert E Handsaker, Steven A McCarroll, Roel A Ophoff, Aarno Palotie, Carlos N Pato, Chiara Sabatti, Matthew W State, A Jeremy Willsey, Steven E Hyman, Anjene M Addington, Thomas Lehner, Nelson B Freimer
No abstract text is available yet for this article.
December 2017: Nature Neuroscience
https://www.readbyqxmd.com/read/29157336/dissociated-components-of-executive-control-in-acute-hypobaric-hypoxia
#2
Endre Takács, István Czigler, Lívia Gabriella Pató, László Balázs
INTRODUCTION: The neurocognitive effects of acute hypobaric hypoxia are still largely unknown. This study was designed to test the hypothesis that executive control, an important component of cognition, is especially vulnerable to hypoxia. METHODS: Subjects participated in a simulated hypobaric chamber flight to 5500 m. Four auditory tasks were presented before, during, and after hypoxia: 1) Voice, and 2) Name variant of the Stroop task (both measuring conflict resolution); 3) go/no-go task (GNG; measuring inhibition); and 4) two-choice reaction time task (CRT; which is a noninhibitory control task)...
December 1, 2017: Aerospace Medicine and Human Performance
https://www.readbyqxmd.com/read/29149307/tumour-tif1-mutations-and-loss-of-heterozygosity-related-to-cancer-associated-myositis
#3
Iago Pinal-Fernandez, Berta Ferrer-Fabregas, Ernesto Trallero-Araguas, Eva Balada, Maria Angeles Martínez, Jose César Milisenda, Gloria Aparicio-Español, Moises Labrador-Horrillo, Vicente Garcia-Patos, Josep M Grau-Junyent, Albert Selva-O'Callaghan
Objectives: To analyse the influence of genetic alterations and differential expression of transcription intermediary factor 1 ( TIF1 ) genes in the pathophysiology of cancer-associated myositis (CAM). Methods: Paired blood and tumour DNA samples from patients with anti-TIF1γ-positive CAM and from controls were analysed by whole-exome sequencing for the presence of somatic mutations and loss of heterozygosity (LOH) in their TIF1 genes. The genesis and maintenance of the autoimmune process were investigated immunohistochemically by studying TIF1γ expression in the different tissues involved in CAM (skin, muscle and tumour) based on the immunohistochemical H-score...
November 14, 2017: Rheumatology
https://www.readbyqxmd.com/read/29101697/nickel-vanadium-and-lead-as-indicators-of-sediment-contamination-of-marina-refinery-and-shipyard-areas
#4
Thayane Lúcia Pereira, Mônica Wallner-Kersanach, Luiza Dy Fonseca Costa, Daniel Pereira Costa, Paulo Roberto Martins Baisch
Metallic elements found in the aquatic environment may originate in areas where petroleum is refined and vessels are maintained and repaired. This study aims to assess contamination caused by nickel (Ni), lead (Pb), and vanadium (V) in sediment of the Lagoa dos Patos estuary (RS, Brazil) and to evaluate them as indicators of areas under the influence of petroleum products and antifouling paints. Surface sediments were collected in summer and in winter in areas of marinas, shipyards, refinery, and a control station...
November 3, 2017: Environmental Science and Pollution Research International
https://www.readbyqxmd.com/read/29042551/integrating-evolutionary-and-regulatory-information-with-a-multispecies-approach-implicates-genes-and-pathways-in-obsessive-compulsive-disorder
#5
Hyun Ji Noh, Ruqi Tang, Jason Flannick, Colm O'Dushlaine, Ross Swofford, Daniel Howrigan, Diane P Genereux, Jeremy Johnson, Gerard van Grootheest, Edna Grünblatt, Erik Andersson, Diana R Djurfeldt, Paresh D Patel, Michele Koltookian, Christina M Hultman, Michele T Pato, Carlos N Pato, Steven A Rasmussen, Michael A Jenike, Gregory L Hanna, S Evelyn Stewart, James A Knowles, Stephan Ruhrmann, Hans-Jörgen Grabe, Michael Wagner, Christian Rück, Carol A Mathews, Susanne Walitza, Daniëlle C Cath, Guoping Feng, Elinor K Karlsson, Kerstin Lindblad-Toh
Obsessive-compulsive disorder is a severe psychiatric disorder linked to abnormalities in glutamate signaling and the cortico-striatal circuit. We sequenced coding and regulatory elements for 608 genes potentially involved in obsessive-compulsive disorder in human, dog, and mouse. Using a new method that prioritizes likely functional variants, we compared 592 cases to 560 controls and found four strongly associated genes, validated in a larger cohort. NRXN1 and HTR2A are enriched for coding variants altering postsynaptic protein-binding domains...
October 17, 2017: Nature Communications
https://www.readbyqxmd.com/read/28973778/estimates-of-genetics-and-phenotypics-parameters-for-the-yield-and-quality-of-soybean-seeds
#6
E V Zambiazzi, A T Bruzi, S R Guilherme, D R Pereira, J G Lima, A M Zuffo, F O Ribeiro, A E S Mendes, S H M Godinho, M L M Carvalho
Estimating genotype x environment (GxE) parameters for quality and yield in soybean seed grown in different environments in Minas Gerais State was the goal of this study, as well as to evaluate interaction effects of GxE for soybean seeds yield and quality. Seeds were produced in three locations in Minas Gerais State (Lavras, Inconfidentes, and Patos de Minas) in 2013/14 and 2014/15 seasons. Field experiments were conducted in randomized blocks in a factorial 17 x 6 (GxE), and three replications. Seed yield and quality were evaluated for germination in substrates paper and sand, seedling emergence, speed emergency index, mechanical damage by sodium hypochlorite, electrical conductivity, speed aging, vigor and viability of seeds by tetrazolium test in laboratory using completely randomized design...
September 27, 2017: Genetics and Molecular Research: GMR
https://www.readbyqxmd.com/read/28973727/diallel-analysis-for-technological-traits-in-upland-cotton
#7
D R Queiroz, F J C Farias, J J V Cavalcanti, L P Carvalho, D G Neder, L S S Souza, F C Farias, P E Teodoro
Final cotton quality is of great importance, and it depends on intrinsic and extrinsic fiber characteristics. The objective of this study was to estimate general (GCA) and specific (SCA) combining abilities for technological fiber traits among six upland cotton genotypes and their fifteen hybrid combinations, as well as to determine the effective genetic effects in controlling the traits evaluated. In 2015, six cotton genotypes: FM 993, CNPA 04-2080, PSC 355, TAM B 139-17, IAC 26, and TAMCOT-CAMD-E and fifteen hybrid combinations were evaluated at the Experimental Station of Embrapa Algodão, located in Patos, PB, Brazil...
September 21, 2017: Genetics and Molecular Research: GMR
https://www.readbyqxmd.com/read/28950447/proof-of-vivo-pato-oshanin-s-conjecture-on-the-fluctuation-of-von-neumann-entropy
#8
Lu Wei
It was recently conjectured by Vivo, Pato, and Oshanin [Phys. Rev. E 93, 052106 (2016)2470-004510.1103/PhysRevE.93.052106] that for a quantum system of Hilbert dimension mn in a pure state, the variance of the von Neumann entropy of a subsystem of dimension m≤n is given by-ψ_{1}(mn+1)+m+n/mn+1ψ_{1}(n)-(m+1)(m+2n+1)/4n^{2}(mn+1),where ψ_{1}(·) is the trigamma function. We give a proof of this formula.
August 2017: Physical Review. E
https://www.readbyqxmd.com/read/28823029/experience-of-lung-transplantation-in-patients-with-lymphangioleiomyomatosis-at-a-brazilian-reference-centre
#9
Bruno Guedes Baldi, Marcos Naoyuki Samano, Silvia Vidal Campos, Martina Rodrigues de Oliveira, José Eduardo Afonso Junior, Rafael Medeiros Carraro, Ricardo Henrique Oliveira Braga Teixeira, Isabela Pasqualini Minguini, Roni Burlina, Eduardo Zinoni Silva Pato, Carlos Roberto Ribeiro Carvalho, André Nathan Costa
INTRODUCTION: Lung transplantation (LT) is the standard of care for patients with advanced lung diseases, including lymphangioleiomyomatosis (LAM). LAM accounts for only 1% of all LTs performed in the international registry. As a result, the global experience, including the use of mechanistic target of rapamycin (mTOR) inhibitors before and after LT in LAM, is still limited. METHODS: We conducted a retrospective review of all LAM patients who underwent LT at our centre between 2003 and 2016...
December 2017: Lung
https://www.readbyqxmd.com/read/28821516/a-retrospective-review-of-paediatric-head-injuries-in-asia-a-pan-asian-trauma-outcomes-study-patos-collaboration
#10
Shu-Ling Chong, Uzma Rahim Khan, Indumathy Santhanam, Jun Seok Seo, Quan Wang, Sabariah Faizah Jamaluddin, Quoc Ai Hoang Trong, Su Yah Chew, Marcus Eng Hock Ong
OBJECTIVE: We aim to examine the mechanisms of head-injured children presenting to participating centres in the Pan Asian Trauma Outcomes Study (PATOS) and to evaluate the association between mechanism of injury and severe outcomes. DESIGN AND SETTING: We performed a retrospective review of medical records among emergency departments (EDs) of eight PATOS centres, from September 2014 - August 2015. PARTICIPANTS: We included children <16 years old who presented within 24 hours of head injury and were admitted for observation or required a computed tomography (CT) of the brain from the ED...
August 18, 2017: BMJ Open
https://www.readbyqxmd.com/read/28792281/pan-asian-trauma-outcomes-study-patos-rationale-and-methodology-of-an-international-and-multicenter-trauma-registry
#11
So Yeon Kong, Sang Do Shin, Hideharu Tanaka, Akio Kimura, Kyoung Jun Song, Goh E Shaun, Wen-Chu Chiang, Kentaro Kajino, Sabariah Faizah Jamaluddin, Dae Han Wi, Ju Ok Park, Sung Woo Moon, Young Sun Ro, David C Cone, James F Holmes
BACKGROUND: Trauma is a major health burden and a time-dependent critical emergency condition among developing and developed countries. In Asia, trauma has become a rapidly expanding epidemic and has spread out to many underdeveloped and developing countries through rapid urbanization and industrialization. Most casualties of severe trauma, which results in significant mortality and disability are assessed and transported by prehospital providers including physicians, professional providers, and volunteer providers...
August 9, 2017: Prehospital Emergency Care
https://www.readbyqxmd.com/read/28781956/the-proteomic-profile-of-a-mouse-model-of-proliferative-vitreoretinopathy
#12
Bernadett Márkus, Zsuzsanna Pató, Zsolt Sarang, Réka Albert, József Tőzsér, Goran Petrovski, Éva Csősz
Proliferative vitreoretinopathy (PVR) develops as a complication of retinal detachment surgery and represents a devastating condition leading to serious vision loss. A good animal model that permits extensive functional studies and drug testing is crucial in finding better therapeutic modalities for PVR. A previously established mouse model, using dispase injection, was analyzed from the proteomic point of view, examining global protein profile changes by 2D electrophoresis, image analysis and HPLC-tandem mass spectrometry-based protein identification...
August 2017: FEBS Open Bio
https://www.readbyqxmd.com/read/28740922/serum-lipidomic-study-reveals-potential-early-biomarkers-for-predicting-response-to-chemoradiation-therapy-in-advanced-rectal-cancer-a-pilot-study
#13
Piero Del Boccio, Francesca Perrotti, Claudia Rossi, Ilaria Cicalini, Sara Di Santo, Mirco Zucchelli, Paolo Sacchetta, Domenico Genovesi, Damiana Pieragostino
PURPOSE: Prospective detection of patients with advanced rectal cancer (LARC) who have a higher probability of responding to preoperative chemoradiotherapy (CRT) may provide individualized therapy. Lipidomics is an emerging science dedicated to the characterization of lipid fingerprint involved in different pato-physiological conditions. The purpose of this study is to highlight a typical lipid signature able to predict the tumor response to CRT. EXPERIMENTAL DESIGN: A prospective global analysis of lipids in 54 sera from 18 LARC patients treated with preoperative CRT was performed...
April 2017: Advances in Radiation Oncology
https://www.readbyqxmd.com/read/28739213/association-between-substance-use-disorder-and-polygenic-liability-to-schizophrenia
#14
Sarah M Hartz, Amy C Horton, Mary Oehlert, Caitlin E Carey, Arpana Agrawal, Ryan Bogdan, Li-Shiun Chen, Dana B Hancock, Eric O Johnson, Carlos N Pato, Michele T Pato, John P Rice, Laura J Bierut
BACKGROUND: There are high levels of comorbidity between schizophrenia and substance use disorder, but little is known about the genetic etiology of this comorbidity. METHODS: We tested the hypothesis that shared genetic liability contributes to the high rates of comorbidity between schizophrenia and substance use disorder. To do this, polygenic risk scores for schizophrenia derived from a large meta-analysis by the Psychiatric Genomics Consortium were computed in three substance use disorder datasets: the Collaborative Genetic Study of Nicotine Dependence (ascertained for tobacco use disorder; n = 918 cases; 988 control subjects), the Collaborative Study on the Genetics of Alcoholism (ascertained for alcohol use disorder; n = 643 cases; 384 control subjects), and the Family Study of Cocaine Dependence (ascertained for cocaine use disorder; n = 210 cases; 317 control subjects)...
November 15, 2017: Biological Psychiatry
https://www.readbyqxmd.com/read/28687384/the-identification-of-new-substrates-of-human-dhrs7-by-molecular-modeling-and-in-vitro-testing
#15
Lucie Zemanová, Palani Kirubakaran, Ignacio Hernando Pato, Hana Štambergová, Jiří Vondrášek
Human DHRS7 (SDR34C1) is one of insufficiently described enzymes of the short-chain dehydrogenase/reductase superfamily. The members of this superfamily often play an important pato/physiological role in the human body, participating in the metabolism of diverse substrates (e.g. retinoids, steroids, xenobiotics). A systematic approach to the identification of novel, physiological substrates of DHRS7 based on a combination of homology modeling, structure-based virtual screening and experimental evaluation has been used...
December 2017: International Journal of Biological Macromolecules
https://www.readbyqxmd.com/read/28681062/use-of-molecular-biology-techniques-in-sarcoidal-granulomatous-dermatitis-a-clinicopathological-and-molecular-approach-with-diagnostic-implications
#16
Tiago C Esteves, Teresa Tórtola, Berta Ferrer, Gloria Aparicio, Elena Sulleiro, Juanjo González-López, Zaira Moure, Dani Romero, Vicente Garcia-Patos
No abstract text is available yet for this article.
July 6, 2017: Acta Dermato-venereologica
https://www.readbyqxmd.com/read/28670308/growth-characteristics-of-an-estuarine-heterocystous-cyanobacterium
#17
Pablo Guimarães, João S Yunes, Mariana Silvia Cretoiu, Lucas J Stal
A new estuarine filamentous heterocystous cyanobacterium was isolated from intertidal sediment of the Lagoa dos Patos estuary (Brazil). The isolate may represent a new genus related to Cylindrospermopsis. While the latter is planktonic, contains gas vesicles, and is toxic, the newly isolated strain is benthic and does not contain gas vesicles. It is not known whether the new strain is toxic. It grows equally well in freshwater, brackish and full salinity growth media, in the absence of inorganic or organic combined nitrogen, with a growth rate 0...
2017: Frontiers in Microbiology
https://www.readbyqxmd.com/read/28641109/rare-copy-number-variants-in-nrxn1-and-cntn6-increase-risk-for-tourette-syndrome
#18
Alden Y Huang, Dongmei Yu, Lea K Davis, Jae Hoon Sul, Fotis Tsetsos, Vasily Ramensky, Ivette Zelaya, Eliana Marisa Ramos, Lisa Osiecki, Jason A Chen, Lauren M McGrath, Cornelia Illmann, Paul Sandor, Cathy L Barr, Marco Grados, Harvey S Singer, Markus M Nöthen, Johannes Hebebrand, Robert A King, Yves Dion, Guy Rouleau, Cathy L Budman, Christel Depienne, Yulia Worbe, Andreas Hartmann, Kirsten R Müller-Vahl, Manfred Stuhrmann, Harald Aschauer, Mara Stamenkovic, Monika Schloegelhofer, Anastasios Konstantinidis, Gholson J Lyon, William M McMahon, Csaba Barta, Zsanett Tarnok, Peter Nagy, James R Batterson, Renata Rizzo, Danielle C Cath, Tomasz Wolanczyk, Cheston Berlin, Irene A Malaty, Michael S Okun, Douglas W Woods, Elliott Rees, Carlos N Pato, Michele T Pato, James A Knowles, Danielle Posthuma, David L Pauls, Nancy J Cox, Benjamin M Neale, Nelson B Freimer, Peristera Paschou, Carol A Mathews, Jeremiah M Scharf, Giovanni Coppola
Tourette syndrome (TS) is a model neuropsychiatric disorder thought to arise from abnormal development and/or maintenance of cortico-striato-thalamo-cortical circuits. TS is highly heritable, but its underlying genetic causes are still elusive, and no genome-wide significant loci have been discovered to date. We analyzed a European ancestry sample of 2,434 TS cases and 4,093 ancestry-matched controls for rare (< 1% frequency) copy-number variants (CNVs) using SNP microarray data. We observed an enrichment of global CNV burden that was prominent for large (> 1 Mb), singleton events (OR = 2...
June 21, 2017: Neuron
https://www.readbyqxmd.com/read/28638980/first-report-of-typical-brazilian-toxoplasma-gondii-genotypes-from-isolates-of-free-range-chickens-gallus-gallus-domesticus-circulating-in-the-state-of-para%C3%A3-ba-northeast-brazil
#19
Thais Ferreira Feitosa, Vinícius Longo Ribeiro Vilela, João Leite de Almeida-Neto, Lídio Ricardo Bezerra de Melo, Dayana Firmino de Morais, Bruna Farias Alves, Fabiana Nakashima, Solange Maria Gennari, Ana Célia Rodrigues Athayde, Hilda Fátima de Jesus Pena
This study evaluated, for the first time, the genetic diversity of Toxoplasma gondii isolates from free-range chickens from the state of Paraíba, Northeast Brazil. Tissue samples from 33 chickens from properties in five municipalities of Paraíba (Esperança, Olho d'Água, Malta, Monteiro, and Patos) were bioassayed in mice. The brains of mice infected with T. gondii cysts were used for DNA extraction and genotyping. Genotyping was performed using 11 PCR-RFLP markers and 15 microsatellite (MS) markers. Complete genotyping results were obtained for 29 isolates, with nine genotypes detected by RFLP and 15 genotypes identified by MS...
August 2017: Parasitology Research
https://www.readbyqxmd.com/read/28630846/chronic-recurrent-multifocal-osteomyelitis-a-case-report-with-atypical-presentation
#20
Miguel Pádua Figueiredo, Marco Pato, Fernando Amaral
INTRODUCTION: Chronic recurrent multifocal osteomyelitis (CRMO) is a rare autoinflammatory condition. The clinical picture consists of sterile osteomyelitis, typically with multiple-site lesions in the metaphysis of long bones and not uncommonly, symmetrical bone involvement. It is a poorly understood entity, whose prognosis, etiology and ideal treatment are still controversial. The authors report a case of unifocal presentation with an atypical location. CASE REPORT: A previously healthy 12-year-old Caucasian girl came to our institution due to progressive pain on her left thigh for the previous 3 months...
January 2017: Journal of Orthopaedic Case Reports
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