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https://www.readbyqxmd.com/read/29346793/epicardial-fat-thickness-in-non-obese-neurologically-impaired-children-association-with-unfavorable-cardiometabolic-risk-profile
#1
Valeria Calcaterra, Hellas Cena, Pietro Mariano Casali, Gianluca Iacobellis, Riccardo Albertini, Mara De Amici, Annalisa de Silvestri, Calogero Comparato, Gloria Pelizzo
BACKGROUND: Cardiovascular risk is reported in disabled children and epicardial fat (EF) is considered an independent predictor of cardiovascular disease (CVD). No data on the EF thickness (EFT) evaluation in disabled children have been published. OBJECTIVE: We investigated EFT in neurologically impaired (NI) children; its relationship with their metabolic profile was also considered. METHODS: Clinical data, body composition estimation, biochemical profile, and ultrasound-measured EFT were performed in 32 disabled patients (12...
January 18, 2018: Annals of Nutrition & Metabolism
https://www.readbyqxmd.com/read/29346775/brd4-promotes-dna-repair-and-mediates-the-formation-of-tmprss2-erg-gene-rearrangements-in-prostate-cancer
#2
Xiangyi Li, GuemHee Baek, Susmita G Ramanand, Adam Sharp, Yunpeng Gao, Wei Yuan, Jon Welti, Daniel N Rodrigues, David Dolling, Ines Figueiredo, Semini Sumanasuriya, Mateus Crespo, Adam Aslam, Rui Li, Yi Yin, Bipasha Mukherjee, Mohammed Kanchwala, Ashley M Hughes, Wendy S Halsey, Cheng-Ming Chiang, Chao Xing, Ganesh V Raj, Sandeep Burma, Johann de Bono, Ram S Mani
BRD4 belongs to the bromodomain and extraterminal (BET) family of chromatin reader proteins that bind acetylated histones and regulate gene expression. Pharmacological inhibition of BRD4 by BET inhibitors (BETi) has indicated antitumor activity against multiple cancer types. We show that BRD4 is essential for the repair of DNA double-strand breaks (DSBs) and mediates the formation of oncogenic gene rearrangements by engaging the non-homologous end joining (NHEJ) pathway. Mechanistically, genome-wide DNA breaks are associated with enhanced acetylation of histone H4, leading to BRD4 recruitment, and stable establishment of the DNA repair complex...
January 16, 2018: Cell Reports
https://www.readbyqxmd.com/read/29346770/integrative-analyses-of-de-novo-mutations-provide-deeper-biological-insights-into-autism-spectrum-disorder
#3
Atsushi Takata, Noriko Miyake, Yoshinori Tsurusaki, Ryoko Fukai, Satoko Miyatake, Eriko Koshimizu, Itaru Kushima, Takashi Okada, Mako Morikawa, Yota Uno, Kanako Ishizuka, Kazuhiko Nakamura, Masatsugu Tsujii, Takeo Yoshikawa, Tomoko Toyota, Nobuhiko Okamoto, Yoko Hiraki, Ryota Hashimoto, Yuka Yasuda, Shinji Saitoh, Kei Ohashi, Yasunari Sakai, Shouichi Ohga, Toshiro Hara, Mitsuhiro Kato, Kazuyuki Nakamura, Aiko Ito, Chizuru Seiwa, Emi Shirahata, Hitoshi Osaka, Ayumi Matsumoto, Saoko Takeshita, Jun Tohyama, Tomoko Saikusa, Toyojiro Matsuishi, Takumi Nakamura, Takashi Tsuboi, Tadafumi Kato, Toshifumi Suzuki, Hirotomo Saitsu, Mitsuko Nakashima, Takeshi Mizuguchi, Fumiaki Tanaka, Norio Mori, Norio Ozaki, Naomichi Matsumoto
Recent studies have established important roles of de novo mutations (DNMs) in autism spectrum disorders (ASDs). Here, we analyze DNMs in 262 ASD probands of Japanese origin and confirm the "de novo paradigm" of ASDs across ethnicities. Based on this consistency, we combine the lists of damaging DNMs in our and published ASD cohorts (total number of trios, 4,244) and perform integrative bioinformatics analyses. Besides replicating the findings of previous studies, our analyses highlight ATP-binding genes and fetal cerebellar/striatal circuits...
January 16, 2018: Cell Reports
https://www.readbyqxmd.com/read/29346769/switching-on-depression-and-potentiation-in-the-cerebellum
#4
Andrew R Gallimore, Taegon Kim, Keiko Tanaka-Yamamoto, Erik De Schutter
Long-term depression (LTD) and long-term potentiation (LTP) in the cerebellum are important for motor learning. However, the signaling mechanisms controlling whether LTD or LTP is induced in response to synaptic stimulation remain obscure. Using a unified model of LTD and LTP at the cerebellar parallel fiber-Purkinje cell (PF-PC) synapse, we delineate the coordinated pre- and postsynaptic signaling that determines the direction of plasticity. We show that LTP is the default response to PF stimulation above a well-defined frequency threshold...
January 16, 2018: Cell Reports
https://www.readbyqxmd.com/read/29346675/in-search-of-the-best-xenogeneic-material-for-a-paediatric-conduit-an-experimental-study
#5
Irina Y Zhuravleva, Nataliya R Nichay, Yuriy Y Kulyabin, Tatyana P Timchenko, Alexander A Korobeinikov, Yuliya F Polienko, Svetlana S Shatskaya, Elena V Kuznetsova, Alexey V Voitov, Alexander V Bogachev-Prokophiev, Alexander M Karaskov
OBJECTIVES: The development of calcification-resistant bioprosthetic materials is a very important challenge for paediatric surgery. The subcutaneous implantation in rats is the well-known first-stage model for this kind of research. Using this model, we aimed to compare calcification of the porcine aortic wall and bovine pericardium and jugular vein wall cross-linked with glutaraldehyde (GA) and ethylene glycol diglycidyl ether (DE). We also determined the efficacy of DE-preserved tissue modification with 2-(2-carboxyethylamino)ethylidene-1,1-bisphosphonic acid (CEABA)...
January 15, 2018: Interactive Cardiovascular and Thoracic Surgery
https://www.readbyqxmd.com/read/29346653/emergence-of-acute-subacute-infant-juvenile-paracoccidioidomycosis-in-northeast-argentina-effect-of-climatic-and-anthropogenic-changes
#6
Gustavo Giusiano, Clarisa Aguirre, Claudia Vratnica, Florencia Rojas, Teresa Corallo, María Emilia Cattana, Mariana Fernández, Javier Mussin, María de Los Angeles Sosa
Argentina has two endemic areas of paracoccidioidomycosis (PCM). Bordering Paraguay and Brazil, Northeast Argentina (NEA) comprises the area with the highest incidence where the chronic adult clinical form has historically been reported. Juvenile form in children and adolescents is rare in this area since only one case was reported in the last 10 years. Despite this, between 2010 and 2012, several cases of acute/subacute clinical forms in children aged 10 to 16 (median 12) were detected. In the last decade, the NEA region has been exposed to ecological variations as consequences of certain climatic and anthropogenic changes, including El Niño-Southern Oscillation phenomenon during 2009, and deforestation...
January 13, 2018: Medical Mycology: Official Publication of the International Society for Human and Animal Mycology
https://www.readbyqxmd.com/read/29346645/performance-of-an-easy-to-use-prediction-model-for-renal-patient-survival-an-external-validation-study-using-data-from-the-era-edta-registry
#7
Aline C Hemke, Martin B A Heemskerk, Merel van Diepen, Anneke Kramer, Johan de Meester, James G Heaf, José Maria Abad Diez, Marta Torres Guinea, Patrik Finne, Philippe Brunet, Bjørn E Vikse, Fergus J Caskey, Jamie P Traynor, Ziad A Massy, Cécile Couchoud, Jaap W Groothoff, Maurizio Nordio, Kitty J Jager, Friedo W Dekker, Andries J Hoitsma
Background: An easy-to-use prediction model for long-term renal patient survival based on only four predictors [age, primary renal disease, sex and therapy at 90 days after the start of renal replacement therapy (RRT)] has been developed in The Netherlands. To assess the usability of this model for use in Europe, we externally validated the model in 10 European countries. Methods: Data from the European Renal Association-European Dialysis and Transplant Association (ERA-EDTA) Registry were used...
January 16, 2018: Nephrology, Dialysis, Transplantation
https://www.readbyqxmd.com/read/29346625/complete-genomic-and-transcriptional-landscape-analysis-using-third-generation-sequencing-a-case-study-of-saccharomyces-cerevisiae-cen-pk113-7d
#8
Piroon Jenjaroenpun, Thidathip Wongsurawat, Rui Pereira, Preecha Patumcharoenpol, David W Ussery, Jens Nielsen, Intawat Nookaew
Completion of eukaryal genomes can be difficult task with the highly repetitive sequences along the chromosomes and short read lengths of second-generation sequencing. Saccharomyces cerevisiae strain CEN.PK113-7D, widely used as a model organism and a cell factory, was selected for this study to demonstrate the superior capability of very long sequence reads for de novo genome assembly. We generated long reads using two common third-generation sequencing technologies (Oxford Nanopore Technology (ONT) and Pacific Biosciences (PacBio)) and used short reads obtained using Illumina sequencing for error correction...
January 13, 2018: Nucleic Acids Research
https://www.readbyqxmd.com/read/29346621/assessing-polymyalgia-rheumatica-activity-when-c-reactive-protein-is-unavailable-or-uninterpretable
#9
Valérie Devauchelle-Pensec, Lea Saraux, Jean Marie Berthelot, Michel De Bandt, Divi Cornec, Dewi Guellec, Thierry Marhadour, Sandrine Jousse-Joulin, Maelenn Gouillou, Alain Saraux
Objective: The PMR activity score (PMR-AS) includes the CRP value, which may be lacking or invalid owing to anti-IL-6 therapy. Our objective was to develop alternatives to PMR-AS that do not require CRP. Methods: We used the Club Rhumatisme et Inflammation (CRI; 89 patients with PMR) and the Tolerance and Efficacy of tocilizumab iN pOlymyalgia Rheumatica (TENOR; 20 patients with recent-onset PMR naive to glucocorticoid who received three tocilizumab infusions, at weeks 0, 4 and 8, followed by prednisone from weeks 12 to 24) cohorts...
January 15, 2018: Rheumatology
https://www.readbyqxmd.com/read/29346618/evidence-of-adaptive-evolution-and-relaxed-constraints-in-sex-biased-genes-of-south-american-and-west-indies-fruit-flies-diptera-tephritidae
#10
Carlos Congrains, Emeline B Campanini, Felipe R Torres, Víctor B Rezende, Aline M Nakamura, Janaína L de Oliveira, André L A Lima, Samira Chahad-Ehlers, Iderval S Sobrinho, Reinaldo A de Brito
Several studies have demonstrated that genes differentially expressed between sexes (sex-biased genes) tend to evolve faster than unbiased genes, particularly in males. The reason for this accelerated evolution is not clear, but several explanations have involved adaptive and non-adaptive mechanisms. Furthermore, the differences of sex-biased expression patterns of closely related species are also little explored out of Drosophila. To address the evolutionary processes involved with sex-biased expression in species with incipient differentiation, we analyzed male and female transcriptomes of Anastrepha fraterculus and A...
January 15, 2018: Genome Biology and Evolution
https://www.readbyqxmd.com/read/29346617/riboswitching-with-ciprofloxacin-development-and-characterization-of-a-novel-rna-regulator
#11
Florian Groher, Cristina Bofill-Bosch, Christopher Schneider, Johannes Braun, Sven Jager, Katharina Geißler, Kay Hamacher, Beatrix Suess
RNA molecules play important and diverse regulatory roles in the cell. Inspired by this natural versatility, RNA devices are increasingly important for many synthetic biology applications, e.g. optimizing engineered metabolic pathways, gene therapeutics or building up complex logical units. A major advantage of RNA is the possibility of de novo design of RNA-based sensing domains via an in vitro selection process (SELEX). Here, we describe development of a novel ciprofloxacin-responsive riboswitch by in vitro selection and next-generation sequencing-guided cellular screening...
January 13, 2018: Nucleic Acids Research
https://www.readbyqxmd.com/read/29346611/combined-roles-of-atp-and-small-hairpin-rna-in-the-activation-of-rig-i-revealed-by-solution-based-analysis
#12
Neelam Shah, Simone A Beckham, Jacqueline A Wilce, Matthew C J Wilce
RIG-I (retinoic acid inducible gene-I) is a cytosolic innate immune protein that senses viral dsRNA with a 5'-triphosphate overhang. Upon interaction with dsRNA a de-repression of the RIG-I CARD domains takes place that ultimately leads to the production of type I interferons and pro-inflammatory cytokines. Here we investigate the RIG-I conformational rearrangement upon interaction with an activating 5'-triphosphate-10-base pair dsRNA hairpin loop (10bp) compared with a less active 5'-triphosphate-8-base pair dsRNA hairpin loop (8bp)...
January 13, 2018: Nucleic Acids Research
https://www.readbyqxmd.com/read/29346566/a-genome-wide-association-study-identifies-nucleotide-variants-at-siglec5-and-defa1a3-as-risk-loci-for-periodontitis
#13
Matthias Munz, Christina Willenborg, Gesa M Richter, Yvonne Jockel-Schneider, Christian Graetz, Ingmar Staufenbiel, Jürgen Wellmann, Klaus Berger, Bastian Krone, Per Hoffmann, Nathalie van der Velde, André G Uitterlinden, Lisette C P G M de Groot, Amr H Sawalha, Haner Direskeneli, Güher Saruhan-Direskeneli, Esra Guzeldemir-Akcakanat, Huseyin Gencay Keceli, Matthias Laudes, Barbara Noack, Alexander Teumer, Birte Holtfreter, Thomas Kocher, Peter Eickholz, Jörg Meyle, Christof Doerfer, Corinna Bruckmann, Wolfgang Lieb, Andre Franke, Stefan Schreiber, Rahime M Nohutcu, Jeanette Erdmann, Bruno G Loos, Soeren Jepsen, Henrik Dommisch, Arne S Schaefer
No abstract text is available yet for this article.
January 16, 2018: Human Molecular Genetics
https://www.readbyqxmd.com/read/29346551/brazil-s-family-health-strategy-factors-associated-with-programme-uptake-and-coverage-expansion-over-15-years-1998-2012
#14
Monica Viegas Andrade, Augusto Quaresma Coelho, Mauro Xavier Neto, Lucas Resende de Carvalho, Rifat Atun, Marcia C Castro
Universal Health Coverage (UHC) is one of the United Nations Sustainable Development Goals (SDGs). Achieving UHC will require strong health systems to promote and deliver equitable and integrated healthcare services through primary healthcare (PHC). In Brazil, the Family Health Strategy (FHS) delivers PHC through the public health system. Created in 1994, the FHS covered almost 123 million individuals (63% of the Brazilian population) by 2015. The FHS has been associated with many health improvements, but gaps in coverage still remain...
January 15, 2018: Health Policy and Planning
https://www.readbyqxmd.com/read/29346518/determinants-of-health-trajectories-in-england-and-the-us-an-approach-to-identify-different-patterns-of-healthy-aging
#15
Javier de la Fuente, Francisco Félix Caballero, Albert Sánchez-Niubó, Demosthenes B Panagiotakos, Matthew A Prina, Holger Arndt, Josep Maria Haro, Somnath Chatterji, José Luis Ayuso-Mateos
Background: Aging is a multidimensional process with a remarkable inter-individual variability. This study is focused on identifying groups of population with similar aging patterns, and to define the health trajectories of these groups. Socio-demographic and health determinants of these trajectories are also identified. Methods: Data from the English Longitudinal Study of Aging (ELSA) and the Health and Retirement Study (HRS) were used. A set of self-reported health items and measured tests were used to generate a latent health metric by means of a Bayesian multilevel IRT model, assessing the ability of the metric to predict mortality...
January 16, 2018: Journals of Gerontology. Series A, Biological Sciences and Medical Sciences
https://www.readbyqxmd.com/read/29346510/viper-a-web-application-for-rapid-expert-review-of-variant-calls
#16
Marius Wöste, Martin Dugas
Summary: With the rapid development in next-generation sequencing, cost and time requirements for genomic sequencing are decreasing, enabling applications in many areas such as cancer research. Many tools have been developed to analyze genomic variation ranging from single nucleotide variants to whole chromosomal aberrations. As sequencing throughput increases, the number of variants called by such tools also grows. Often employed manual inspection of such calls is thus becoming a time-consuming procedure...
January 15, 2018: Bioinformatics
https://www.readbyqxmd.com/read/29346507/activity-and-safety-of-afatinib-in-a-window-pre-operative-eortc-study-in-patients-with-squamous-cell-carcinoma-of-the-head-and-neck-scchn
#17
J P Machiels, P Bossi, J Menis, M Lia, C Fortpied, Y Liu, R Lhommel, M Lemort, S Schmitz, S Canevari, L De Cecco, M Guzzo, R Bianchi, P Quattrone, F Crippa, T Duprez, Y Lalami, M Quiriny, N de Saint Aubain, P M Clement, R Coropciuc, E Hauben, L F Licitra
Background: To investigate the activity and safety of afatinib in the pre-operative treatment of squamous cell carcinoma of the head and neck (SCCHN). Patients and methods: This study was an open-label, randomized, multicenter, phase II window of opportunity trial. Treatment-naïve SCCHN patients selected for primary curative surgery were randomized (5:1 ratio) to receive afatinib during 14 days (day -15 until day -1) before surgery (day 0) or no treatment. Tumor biopsies, 2-[fluorine-18]-fluoro-2-deoxy-D-glucose positron emission tomography (FDG-PET), and magnetic resonance imaging (MRI) were performed at diagnosis and just before surgery...
January 15, 2018: Annals of Oncology: Official Journal of the European Society for Medical Oncology
https://www.readbyqxmd.com/read/29346498/association-of-treatment-for-hodgkin-lymphoma-with-estrogen-receptor-status-of-subsequent-breast-cancers
#18
Diana R Withrow, Lindsay M Morton, Rochelle E Curtis, Sara J Schonfeld, Amy Berrington de González
No abstract text is available yet for this article.
January 18, 2018: JAMA Oncology
https://www.readbyqxmd.com/read/29346488/a-subretinal-cell-delivery-method-via-suprachoroidal-access-in-minipigs-safety-and-surgical-outcomes
#19
Marc D de Smet, Jessica L Lynch, Nadine S Dejneka, Michael Keane, I John Khan
Purpose: This study evaluated a new subretinal method for delivery of human or pig umbilical tissue-derived cells (hUTC or pUTC, respectively) using a novel subretinal injection cannula and suprachoroidal approach in Göttingen minipig eyes. hUTC (palucorcel) are currently under development for treating geographic atrophy in humans. Methods: Twenty-four Göttingen minipigs (divided into eight groups) were subretinally administered palucorcel, pUTC, or vehicle. In some cases, fluorescently labeled cells and vehicle were administered...
January 1, 2018: Investigative Ophthalmology & Visual Science
https://www.readbyqxmd.com/read/29346478/differentiation-syndrome-associated-with-enasidenib-a-selective-inhibitor-of-mutant-isocitrate-dehydrogenase-2-analysis-of-a-phase-1-2-study
#20
Amir T Fathi, Courtney D DiNardo, Irina Kline, Laurie Kenvin, Ira Gupta, Eyal C Attar, Eytan M Stein, Stephane de Botton
Importance: Enasidenib mesylate, a mutant isocitrate dehydrogenase 2 (IDH2) protein inhibitor that promotes differentiation of leukemic myeloblasts, was recently approved by the US Food and Drug Administration for use in relapsed/refractory (R/R) mutant IDH2 acute myeloid leukemia (AML). During the first study of enasidenib in humans, a minority of patients with advanced myeloid neoplasms experienced unexpected signs/symptoms of a differentiation syndrome (DS), a potentially lethal entity...
January 18, 2018: JAMA Oncology
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