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https://www.readbyqxmd.com/read/28708303/using-medical-exome-sequencing-to-identify-the-causes-of-neurodevelopmental-disorders-experience-of-two-clinical-units-and-216-patients
#1
E Chérot, B Keren, C Dubourg, W Carré, M Fradin, A Lavillaureix, A Afenjar, L Burglen, S Whalen, P Charles, I Marey, S Heide, A Jacquette, D Heron, D Doummar, D Rodriguez, Thierry Billette de Villemeur, M-L Moutard, A Guët, J Xavier, D Périsse, D Cohen, F Demurger, C Quélin, C Depienne, S Odent, C Nava, V David, L Pasquier, C Mignot
Though whole exome sequencing is the gold standard for the diagnosis of neurodevelopmental disorders, it remains expensive for some genetic centers. Commercialized panels comprising all OMIM-referenced genes called "medical exome" constitute an alternative strategy to whole exome sequencing, but its efficiency is poorly known. In this study, we report the experience of two clinical genetic centers using medical exome for diagnosis of neurodevelopmental disorders. We recruited 216 consecutive index patients with neurodevelopmental disorders in two French genetic centers, corresponded to the daily practice of the units and included non-syndromic intellectual disability (n=33), syndromic intellectual disability (n=122), pediatric neurodegenerative disorders (n=7) and autism spectrum disorder (n=54)...
July 14, 2017: Clinical Genetics
https://www.readbyqxmd.com/read/28686707/molecular-characterization-of-occult-hepatitis-b-virus-infection-in-patients-with-end-stage-liver-disease-in-colombia
#2
Julio Cesar Rendon, Fabian Cortes-Mancera, Juan Carlos Restrepo-Gutierrez, Sergio Hoyos, Maria-Cristina Navas
BACKGROUND: Hepatitis B virus (HBV) occult infection (OBI) is a risk factor to be taken into account in transfusion, hemodialysis and organ transplantation. The aim of this study was to identify and characterize at the molecular level OBI cases in patients with end-stage liver disease. METHODS: Sixty-six liver samples were obtained from patients with diagnosis of end-stage liver disease submitted to liver transplantation in Medellin (North West, Colombia). Samples obtained from patients who were negative for the surface antigen of HBV (n = 50) were tested for viral DNA detection by nested PCR for ORFs S, C, and X and confirmed by Southern-Blot...
2017: PloS One
https://www.readbyqxmd.com/read/28678544/possible-involvement-of-orphan-receptors-gpr88-and-gpr124-in-the-development-of-hypertension-in-spontaneously-hypertensive-rat
#3
L Calderón-Zamora, A Ruiz-Hernandez, R Romero-Nava, N León-Sicairos, A Canizalez-Román, E Hong, F Huang, S Villafaña
Hypertension (HBP) is a chronic disease characterized by increased blood pressure, which despite several treatments maintains a high morbi-mortality, which suggests that there are other mechanisms involved in this pathology, within which the orphan receptors could be candidates for the treatment of the HBP; these receptors are called orphan receptors because their ligand is unknown. These receptors have been suggested to participate in some pathologies because they are associated with various systems such as GPR88, which has been linked to the dopaminergic system, and GPR124 with angiogenesis, suggesting that these receptors could take part in HBP...
July 5, 2017: Clinical and Experimental Hypertension: CHE
https://www.readbyqxmd.com/read/28676230/incidence-of-asthma-in-young-adults-from-castellon-spain-a-prospective-cohort-study
#4
L Segura-Navas, A Arnedo-Pena, R Tosca-Segura, M A Romeu-García, N Meseguer-Ferrer, E Silvestre-Silvestre, F Conde, S Fernández-González, M Dubon, M Ortuño-Forcada, J Fabregat-Puerto, C Fenollosa-Amposta, M R Pac-Sa, L Museros-Recatala, A Vizcaino-Batllés, J B Bellido-Blasco
BACKGROUND: The objective was to estimate the incidence of asthma in young adults from 13-15 years old to 23-25 years old, and associated factors. METHODS: In 2012, a population-based prospective cohort study was carried out in Castellon from the cohort who had participated in the International Study of Asthma and Allergy in Childhood in 1994 and 2002. A telephone survey was undertaken using the same questionnaires. A new case of asthma was defined as a participant free of the disease in 2002 who suffered asthma, was diagnosed with asthma, or took medications against asthma based on self-report from 2002 to 2012...
July 1, 2017: Allergologia et Immunopathologia
https://www.readbyqxmd.com/read/28675656/direct-creation-of-highly-conductive-laser-induced-graphene-nanocomposites-from-polymer-blends
#5
Alireza Zehtab Yazdi, Ivonne Otero Navas, Ahmed Abouelmagd, Uttandaraman Sundararaj
The current state-of-the-art mixing strategies of nanoparticles with insulating polymeric components have only partially utilized the unique electrical conductivity of graphene in nanocomposite systems. Herein, this paper reports a nonmixing method of direct creation of polymer/graphene nanocomposites from polymer blends via laser irradiation. Polycarbonate-laser-induced graphene (PC-LIG) nanocomposite is produced from a PC/polyetherimide (PC/PEI) blend after exposure to commercially available laser scribing with a power of ≈6 W and a speed of ≈2 cm s(-1) ...
July 4, 2017: Macromolecular Rapid Communications
https://www.readbyqxmd.com/read/28642046/prostate-specific-antigen-percentage-an-early-predictive-tool-after-iodine-125-interstitial-brachytherapy-for-prostate-cancer
#6
Mauro Paoluzzi, Andrea Losa, Valentina Cerboneschi, Caterina Colosimo, Nicola Fontana, Paola Mangili, Marcello Mignogna, Luciano Nava, Valentina Ravaglia
BACKGROUND: After interstitial prostate iodine-125 brachytherapy (BT), prostate-specific antigen (PSA) evolution in time could predict overall biochemical relapse, but, considering the single patient, it is influenced by the presentation PSA amount and by the prostatic volume. It is also challenging to differentiate a PSA bounce from a biochemical relapse. PURPOSE: To determine the usefulness of PSA percentage (PP) defined as the rate between PSA presented by a patient at time "t" and the PSA that the same patient had presented at the time of diagnosis (t0) assumed as 100% in predicting biochemical relapse and in differentiating them from PSA Bounces...
June 19, 2017: Brachytherapy
https://www.readbyqxmd.com/read/28624713/aneuploidy-identification-in-pre-b-acute-lymphoblastic-leukemia-patients-at-diagnosis-by-multiplex-ligation-dependent-probe-amplification-mlpa
#7
A Vázquez-Reyes, L Bobadilla-Morales, C Barba-Barba, G Macías-Salcedo, G Serafín-Saucedo, M E Velázquez-Rivera, M C Almodóvar-Cuevas, A Márquez-Mora, H J Pimentel-Gutiérrez, C Ortega-de-la-Torre, R M Cruz-Osorio, S Nava-Gervasio, J Rivera-Vargas, F Sánchez-Zubieta, J R Corona-Rivera, A Corona-Rivera
Three-quarters of the patients with acute lymphoblastic leukemia (ALL), show numerical or structural chromosomal alterations, which are important factors in leukemogenesis. The use of Multiplex Ligation-dependent Probes Amplification (MLPA) has been mainly limited for searching copy number alterations of genes, suggesting that MLPA could detect numerical alterations in cancer. However, the use of MLPA in pediatrics to analyze subtelomeric sequences for aneuploidy detection has not been considered in previous studies...
June 1, 2017: Leukemia Research
https://www.readbyqxmd.com/read/28582531/biomarkers-of-secondhand-smoke-exposure-in-waterpipe-tobacco-venue-employees-in-istanbul-moscow-and-cairo
#8
Katherine A Moon, Ana M Rule, Hoda S Magid, Jacqueline Ferguson, Jolie Susan, Zhuolu Sun, Christine Torrey, Salahaddin Abubaker, Vladimir Levshin, Asli Çarkoglu, Ghada Nasr Radwan, Maha El-Rabbat, Joanna E Cohen, Paul Strickland, Patrick N Breysse, Ana Navas-Acien
Background: Most smoke-free legislation to reduce secondhand smoke (SHS) exposure exempts waterpipe (hookah) smoking venues. Few studies have examined SHS exposure in waterpipe venues and their employees. Methods: We surveyed 276 employees of 46 waterpipe tobacco venues in Istanbul, Moscow, and Cairo. We interviewed venue managers and employees and collected biological samples from employees to measure exhaled carbon monoxide (CO), hair nicotine, saliva cotinine, urine cotinine, urine 4-(methylnitrosamino)-1-(3-pyridyl)-1-butanol (NNAL), and urine 1-hydroxypyrene glucuronide (1-OHPG)...
June 3, 2017: Nicotine & Tobacco Research: Official Journal of the Society for Research on Nicotine and Tobacco
https://www.readbyqxmd.com/read/28558300/urine-cadmium-levels-and-albuminuria-in-a-general-population-from-spain-a-gene-environment-interaction-analysis
#9
Maria Grau-Perez, Gernot Pichler, Inma Galan-Chilet, Laisa S Briongos-Figuero, Pilar Rentero-Garrido, Raul Lopez-Izquierdo, Ana Navas-Acien, Virginia Weaver, Tamara García-Barrera, Jose L Gomez-Ariza, Juan C Martín-Escudero, F Javier Chaves, Josep Redon, Maria Tellez-Plaza
BACKGROUND: The interaction of cadmium with genes involved in oxidative stress, cadmium metabolism and transport pathways on albuminuria can provide biological insight on the relationship between cadmium and albuminuria at low exposure levels. OBJECTIVES: We tested the hypothesis that specific genotypes in candidate genes may confer increased susceptibility to cadmium exposure. METHODS: Cadmium exposure was estimated by inductively coupled plasma mass spectrometry (ICPMS) in urine from 1397 men and women aged 18-85years participating in the Hortega Study, a representative sample of a general population from Spain...
May 27, 2017: Environment International
https://www.readbyqxmd.com/read/28554006/chronic-arsenic-exposure-and-risk-of-carotid-artery-disease-the-strong-heart-study
#10
Farrah J Mateen, Maria Grau-Perez, Jonathan S Pollak, Katherine A Moon, Barbara V Howard, Jason G Umans, Lyle G Best, Kevin A Francesconi, Walter Goessler, Ciprian Crainiceanu, Eliseo Guallar, Richard B Devereux, Mary J Roman, Ana Navas-Acien
BACKGROUND: Inorganic arsenic exposure from naturally contaminated groundwater is related to vascular disease. No prospective studies have evaluated the association between arsenic and carotid atherosclerosis at low-moderate levels. We examined the association of long-term, low-moderate inorganic arsenic exposure with carotid arterial disease. METHODS: American Indians, 45-74 years old, in Arizona, Oklahoma, and North and South Dakota had arsenic concentrations (sum of inorganic and methylated species, μg/g urine creatinine) measured from baseline urine samples (1989-1991)...
August 2017: Environmental Research
https://www.readbyqxmd.com/read/28544629/household-pet-exposure-allergic-sensitization-and-rhinitis-in-the-u-s-population
#11
Josef Shargorodsky, Esther Garcia-Esquinas, Rachel Umanskiy, Ana Navas-Acien, Sandra Y Lin
BACKGROUND: The effect of animal dander exposure on allergic sensitization may be age-dependent. A comparison between the association of the levels of exposure to pet allergen with rhinitis symptoms and allergic sensitization in children and adults is yet to be performed in the U.S. POPULATION: HASH(0x494c950) METHODS: Cross-sectional study of 3034 adults (age, 20 to 85 years) and 2104 children (age, 6 to 19 years) in the National Health and Nutrition Examination Survey, 2005-2006...
July 2017: International Forum of Allergy & Rhinology
https://www.readbyqxmd.com/read/28534699/association-of-adipokines-interleukin-6-and-tumor-necrosis-factor-%C3%AE-concentrations-with-clinical-characteristics-and-presence-of-spinal-syndesmophytes-in-patients-with-ankylosing-spondylitis-a-cross-sectional-study
#12
Laura Gonzalez-Lopez, Nicte S Fajardo-Robledo, A Miriam Saldaña-Cruz, Inocente V Moreno-Sandoval, David Bonilla-Lara, Soraya Zavaleta-Muñiz, Arnulfo Hernan Nava-Zavala, Paulina Hernandez-Cuervo, Alberto Rocha-Muñoz, Norma Alejandra Rodriguez-Jimenez, Maria L Vazquez-Villegas, J Francisco Muñoz-Valle, Mario Salazar-Paramo, Ernesto G Cardona-Muñoz, Jorge I Gamez-Nava
Objective To identify correlations of the serum leptin, adiponectin, interleukin-6 (IL-6), and tumor necrosis factor-α (TNF-α) concentrations with the clinical characteristics, presence of spinal syndesmophytes, and body composition in patients with ankylosing spondylitis (AS). Methods Forty-eight patients with AS were compared with 41 sex- and age-matched controls. Assessment included clinical characteristics and the presence of spinal syndesmophytes. The serum leptin, adiponectin, TNF-α, and IL-6 concentrations were determined...
January 1, 2017: Journal of International Medical Research
https://www.readbyqxmd.com/read/28522596/lysyl-oxidase-overexpression-accelerates-cardiac-remodeling-and-aggravates-angiotensin-ii-induced-hypertrophy
#13
María Galán, Saray Varona, Anna Guadall, Mar Orriols, Miquel Navas, Silvia Aguiló, Alicia de Diego, María A Navarro, David García-Dorado, Antonio Rodríguez-Sinovas, José Martínez-González, Cristina Rodriguez
Lysyl oxidase (LOX) controls matrix remodeling, a key process that underlies cardiovascular diseases and heart failure; however, a lack of suitable animal models has limited our knowledge with regard to the contribution of LOX to cardiac dysfunction. Here, we assessed the impact of LOX overexpression on ventricular function and cardiac hypertrophy in a transgenic mouse model with a strong cardiac expression of human LOX (TgLOX). TgLOX mice exhibited high expression of the transgene in cardiomyocytes and cardiofibroblasts, which are associated with enhanced LOX activity and H2O2 production and with cardiofibroblast reprogramming...
May 18, 2017: FASEB Journal: Official Publication of the Federation of American Societies for Experimental Biology
https://www.readbyqxmd.com/read/28495189/genetic-analysis-of-rhipicephalus-sanguineus-sensu-lato-ticks-parasites-of-dogs-in-africa-north-of-the-sahara-based-on-mitochondrial-dna-sequences
#14
Lidia Chitimia-Dobler, Johanna Langguth, Martin Pfeffer, Simone Kattner, Thomas Küpper, Daniela Friese, Gerhard Dobler, Alberto A Guglielmone, Santiago Nava
The aim of this work was to determine the evolutionary relationship among tick populations of Rhipicephalus sanguineus sensu lato distributed in Africa north of the Sahara and different lineages of R. sanguineus s.l. distributed in different regions of Sub-Saharan Africa, America and Europe through the analysis of DNA sequences of two mitochondrial genes. One hundred and thirty six 16S rRNA gene sequences and twenty-seven 12S rRNA gene sequences of R. sanguineus s.l. were analyzed. Phylogenetic analyses were performed including different lineages of R...
May 30, 2017: Veterinary Parasitology
https://www.readbyqxmd.com/read/28474328/biology-and-thermal-requirements-of-fopius-arisanus-sonan-1932-hymenoptera-braconidae-reared-on-ceratitis-capitata-eggs-wiedemann-diptera-tephritidae
#15
M Z Groth, A E Loeck, S D Nornberg, D Bernardi, D E Nava
Fopius arisanus (Sonan) is a solitary parasitoid of eggs and the first instar larvae of Tephritidae. Due to the occurrence of Ceratitis capitata (Wiedemann) in various regions and under several climatic conditions, this study aimed to evaluate the effect of different temperatures on the embryonic development (egg-adult) and determine thermal requirements and the number of annual generations F. arisanus on eggs of C. capitata. In the laboratory, eggs of C. capitata (24 h) were submitted to parasitism of F. arisanus during 6 h...
May 4, 2017: Neotropical Entomology
https://www.readbyqxmd.com/read/28456691/a-new-thioredoxin-reductase-with-additional-glutathione-reductase-activity-in-haemonchus-contortus
#16
Agustín Plancarte, Gabriela Nava, Javier A Munguía
We report, herein, the purification to homogeneity and the biochemical and kinetic characterization of HcTrxR3, a new isoform of thioredoxin reductase (TrxR) from Haemonchus contortus. HcTrxR3 was found to have a relative molecular weight of 134,000, while the corresponding value per subunit obtained under denaturing conditions, was of 67,000. By peptide mass spectrophotometric analysis, HcTrxR3 was determined to have 99% identity with the H. contortus HcTrxR1 although, and most importantly, they are different in their amino acid sequence in two amino acid positions: 48 (isoleucine instead of leucine) and 460 (leucine instead of proline)...
June 2017: Experimental Parasitology
https://www.readbyqxmd.com/read/28451929/endoscopic-sleeve-gastroplasty-for-obesity-a-multicenter-study-of-248-patients-with-24%C3%A2-months-follow-up
#17
Gontrand Lopez-Nava, Reem Z Sharaiha, Eric J Vargas, Fateh Bazerbachi, Galvao Neto Manoel, Inmaculada Bautista-Castaño, Andres Acosta, Mark D Topazian, Manpreet S Mundi, Nikhil Kumta, Michel Kahaleh, Andrea Marie Herr, Alpana Shukla, Louis Aronne, Christopher J Gostout, Barham K Abu Dayyeh
BACKGROUND: Endoscopic sleeve gastroplasty (ESG) is a technique for managing mild to moderately obese patients. We aimed to evaluate the long-term outcomes, reproducibility, and predictors of weight response in a large multicenter cohort. METHODS: Patients who underwent ESG between January 2013 and December 2015 in three centers were retrospectively analyzed. All procedures were performed using the Apollo OverStitch device (Apollo Endosurgery, Austin, TX). We performed per protocol (PP) and intention-to-treat (ITT) analyses, where patients lost to follow-up were considered failures...
April 27, 2017: Obesity Surgery
https://www.readbyqxmd.com/read/28450425/circulating-free-dna-to-guide-prostate-cancer-treatment-with-parp-inhibition
#18
Jane Goodall, Joaquin Mateo, Wei Yuan, Helen Mossop, Nuria Porta, Susana Miranda, Raquel Perez-Lopez, David Dolling, Dan R Robinson, Shahneen Sandhu, Gemma Fowler, Berni Ebbs, Penny Flohr, George Seed, Daniel Nava Rodrigues, Gunther Boysen, Claudia Bertan, Mark Atkin, Matthew Clarke, Mateus Crespo, Ines Figueiredo, Ruth Riisnaes, Semini Sumanasuriya, Pasquale Rescigno, Zafeiris Zafeiriou, Adam Sharp, Nina Tunariu, Diletta Bianchini, Alexa Gillman, Christopher J Lord, Emma Hall, Arul M Chinnaiyan, Suzanne Carreira, Johann S de Bono
Biomarkers for a more precise patient care are needed in metastatic prostate cancer (mPC). We have reported a Phase II trial (TOPARP-A) of the poly(ADP)-ribose polymerase (PARP) inhibitor olaparib in mPC, demonstrating antitumor activity associating with homologous recombination DNA repair defects. We now report targeted and whole exome sequencing of serial circulating-free DNA (cfDNA) samples collected during this trial. Decreases in cfDNA concentration independently associated with outcome in multivariable analyses (HR for overall survival at week 8: 0...
April 27, 2017: Cancer Discovery
https://www.readbyqxmd.com/read/28420148/differential-effect-of-sucrose-and-fructose-in-combination-with-a-high-fat-diet-on-intestinal-microbiota-and-kidney-oxidative-stress
#19
Adriana Rosas-Villegas, Mónica Sánchez-Tapia, Azalia Avila-Nava, Victoria Ramírez, Armando R Tovar, Nimbe Torres
There is controversial information about the adverse effect of sucrose (S) or fructose (F) in the development of obesity. Thus, the purpose of the study was to evaluate the effect of S or F in a high fat diet (HF) on gut microbiota and renal oxidative stress. Rats were fed for four months with either high-fat + sucrose (HFS) or high-fat + fructose (HFF) or a control diet (C). Half of the HFS or HFF groups were maintained with the same diet and the other half were switched to the consumption of C. HFS and HFF groups increased 51% and 19% body weight, respectively, compared with the C group...
April 16, 2017: Nutrients
https://www.readbyqxmd.com/read/28412879/quantitative-analysis-of-transnasal-anterior-skull-base-approach-report-of-technology-for-intraoperative-assessment-of-instrument-motion
#20
Angelique M Berens, Richard Alex Harbison, Yangming Li, Randall A Bly, Nava Aghdasi, Manuel Ferreira, Blake Hannaford, Kris S Moe
OBJECTIVE: To develop a method to measure intraoperative surgical instrument motion. This model will be applicable to the study of surgical instrument kinematics including surgical training, skill verification, and the development of surgical warning systems that detect aberrant instrument motion that may result in patient injury. DESIGN: We developed an algorithm to automate derivation of surgical instrument kinematics in an endoscopic endonasal skull base surgery model...
April 1, 2017: Surgical Innovation
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