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https://www.readbyqxmd.com/read/29317143/predictors-of-speech-outcomes-in-children-with-pierre-robin-sequence
#1
Anne Morice, Francis Renault, Véronique Soupre, Cécile Chapuis, Chantal Trichet Zbinden, Natacha Kadlub, Amerigo Giudice, Marie-Paule Vazquez, Arnaud Picard
BACKGOUND: Pierre Robin sequence (PRS) has worse speech outcomes than isolated cleft palate. We aimed to search for possible associations of phonological outcomes with PRS status (isolated vs syndromic), clinical severity, soft palate muscles deficiency, or surgical procedure. METHODS: We designed a retrospective study of 130 children (male/female ratio: 0.4) with isolated (96) or syndromic (34) PRS with cleft palate. Grading systems were used to classify retrognathia, glossoptosis, and respiratory and feeding disorders...
December 13, 2017: Journal of Cranio-maxillo-facial Surgery
https://www.readbyqxmd.com/read/29310490/harnessing-electronic-medical-records-to-advance-research-on-multiple-sclerosis
#2
Vincent Damotte, Antoine Lizée, Matthew Tremblay, Alisha Agrawal, Pouya Khankhanian, Adam Santaniello, Refujia Gomez, Robin Lincoln, Wendy Tang, Tiffany Chen, Nelson Lee, Pablo Villoslada, Jill A Hollenbach, Carolyn D Bevan, Jennifer Graves, Riley Bove, Douglas S Goodin, Ari J Green, Sergio E Baranzini, Bruce Ac Cree, Roland G Henry, Stephen L Hauser, Jeffrey M Gelfand, Pierre-Antoine Gourraud
BACKGROUND: Electronic medical records (EMR) data are increasingly used in research, but no studies have yet evaluated similarity between EMR and research-quality data and between characteristics of an EMR multiple sclerosis (MS) population and known natural MS history. OBJECTIVES: To (1) identify MS patients in an EMR system and extract clinical data, (2) compare EMR-extracted data with gold-standard research data, and (3) compare EMR MS population characteristics to expected MS natural history...
January 1, 2018: Multiple Sclerosis: Clinical and Laboratory Research
https://www.readbyqxmd.com/read/29301920/risk-factors-for-recurrent-venous-thromboembolism-after-unprovoked-pulmonary-embolism-the-padis-pe-randomised-trial
#3
Cécile Tromeur, Olivier Sanchez, Emilie Presles, Gilles Pernod, Laurent Bertoletti, Patrick Jego, Elisabeth Duhamel, Karine Provost, Florence Parent, Philippe Robin, Lucile Deloire, Florent Leven, Fanny Mingant, Luc Bressollette, Pierre-Yves Le Roux, Pierre-Yves Salaun, Michel Nonent, Brigitte Pan-Petesch, Benjamin Planquette, Philippe Girard, Karine Lacut, Solen Melac, Patrick Mismetti, Silvy Laporte, Guy Meyer, Dominique Mottier, Christophe Leroyer, Francis Couturaud
We aimed to identify risk factors for recurrent venous thromboembolism (VTE) after unprovoked pulmonary embolism.Analyses were based on the double-blind randomised PADIS-PE trial, which included 371 patients with a first unprovoked pulmonary embolism initially treated during 6 months who were randomised to receive an additional 18 months of warfarin or placebo and followed up for 2 years after study treatment discontinuation. All patients had ventilation/perfusion lung scan at inclusion (i.e. at 6 months of anticoagulation)...
January 2018: European Respiratory Journal: Official Journal of the European Society for Clinical Respiratory Physiology
https://www.readbyqxmd.com/read/29273807/protein-altering-variants-associated-with-body-mass-index-implicate-pathways-that-control-energy-intake-and-expenditure-in-obesity
#4
Valérie Turcot, Yingchang Lu, Heather M Highland, Claudia Schurmann, Anne E Justice, Rebecca S Fine, Jonathan P Bradfield, Tõnu Esko, Ayush Giri, Mariaelisa Graff, Xiuqing Guo, Audrey E Hendricks, Tugce Karaderi, Adelheid Lempradl, Adam E Locke, Anubha Mahajan, Eirini Marouli, Suthesh Sivapalaratnam, Kristin L Young, Tamuno Alfred, Mary F Feitosa, Nicholas G D Masca, Alisa K Manning, Carolina Medina-Gomez, Poorva Mudgal, Maggie C Y Ng, Alex P Reiner, Sailaja Vedantam, Sara M Willems, Thomas W Winkler, Gonçalo Abecasis, Katja K Aben, Dewan S Alam, Sameer E Alharthi, Matthew Allison, Philippe Amouyel, Folkert W Asselbergs, Paul L Auer, Beverley Balkau, Lia E Bang, Inês Barroso, Lisa Bastarache, Marianne Benn, Sven Bergmann, Lawrence F Bielak, Matthias Blüher, Michael Boehnke, Heiner Boeing, Eric Boerwinkle, Carsten A Böger, Jette Bork-Jensen, Michiel L Bots, Erwin P Bottinger, Donald W Bowden, Ivan Brandslund, Gerome Breen, Murray H Brilliant, Linda Broer, Marco Brumat, Amber A Burt, Adam S Butterworth, Peter T Campbell, Stefania Cappellani, David J Carey, Eulalia Catamo, Mark J Caulfield, John C Chambers, Daniel I Chasman, Yii-Der I Chen, Rajiv Chowdhury, Cramer Christensen, Audrey Y Chu, Massimiliano Cocca, Francis S Collins, James P Cook, Janie Corley, Jordi Corominas Galbany, Amanda J Cox, David S Crosslin, Gabriel Cuellar-Partida, Angela D'Eustacchio, John Danesh, Gail Davies, Paul I W Bakker, Mark C H Groot, Renée Mutsert, Ian J Deary, George Dedoussis, Ellen W Demerath, Martin Heijer, Anneke I Hollander, Hester M Ruijter, Joe G Dennis, Josh C Denny, Emanuele Angelantonio, Fotios Drenos, Mengmeng Du, Marie-Pierre Dubé, Alison M Dunning, Douglas F Easton, Todd L Edwards, David Ellinghaus, Patrick T Ellinor, Paul Elliott, Evangelos Evangelou, Aliki-Eleni Farmaki, I Sadaf Farooqi, Jessica D Faul, Sascha Fauser, Shuang Feng, Ele Ferrannini, Jean Ferrieres, Jose C Florez, Ian Ford, Myriam Fornage, Oscar H Franco, Andre Franke, Paul W Franks, Nele Friedrich, Ruth Frikke-Schmidt, Tessel E Galesloot, Wei Gan, Ilaria Gandin, Paolo Gasparini, Jane Gibson, Vilmantas Giedraitis, Anette P Gjesing, Penny Gordon-Larsen, Mathias Gorski, Hans-Jörgen Grabe, Struan F A Grant, Niels Grarup, Helen L Griffiths, Megan L Grove, Vilmundur Gudnason, Stefan Gustafsson, Jeff Haessler, Hakon Hakonarson, Anke R Hammerschlag, Torben Hansen, Kathleen Mullan Harris, Tamara B Harris, Andrew T Hattersley, Christian T Have, Caroline Hayward, Liang He, Nancy L Heard-Costa, Andrew C Heath, Iris M Heid, Øyvind Helgeland, Jussi Hernesniemi, Alex W Hewitt, Oddgeir L Holmen, G Kees Hovingh, Joanna M M Howson, Yao Hu, Paul L Huang, Jennifer E Huffman, M Arfan Ikram, Erik Ingelsson, Anne U Jackson, Jan-Håkan Jansson, Gail P Jarvik, Gorm B Jensen, Yucheng Jia, Stefan Johansson, Marit E Jørgensen, Torben Jørgensen, J Wouter Jukema, Bratati Kahali, René S Kahn, Mika Kähönen, Pia R Kamstrup, Stavroula Kanoni, Jaakko Kaprio, Maria Karaleftheri, Sharon L R Kardia, Fredrik Karpe, Sekar Kathiresan, Frank Kee, Lambertus A Kiemeney, Eric Kim, Hidetoshi Kitajima, Pirjo Komulainen, Jaspal S Kooner, Charles Kooperberg, Tellervo Korhonen, Peter Kovacs, Helena Kuivaniemi, Zoltán Kutalik, Kari Kuulasmaa, Johanna Kuusisto, Markku Laakso, Timo A Lakka, David Lamparter, Ethan M Lange, Leslie A Lange, Claudia Langenberg, Eric B Larson, Nanette R Lee, Terho Lehtimäki, Cora E Lewis, Huaixing Li, Jin Li, Ruifang Li-Gao, Honghuang Lin, Keng-Hung Lin, Li-An Lin, Xu Lin, Lars Lind, Jaana Lindström, Allan Linneberg, Ching-Ti Liu, Dajiang J Liu, Yongmei Liu, Ken S Lo, Artitaya Lophatananon, Andrew J Lotery, Anu Loukola, Jian'an Luan, Steven A Lubitz, Leo-Pekka Lyytikäinen, Satu Männistö, Gaëlle Marenne, Angela L Mazul, Mark I McCarthy, Roberta McKean-Cowdin, Sarah E Medland, Karina Meidtner, Lili Milani, Vanisha Mistry, Paul Mitchell, Karen L Mohlke, Leena Moilanen, Marie Moitry, Grant W Montgomery, Dennis O Mook-Kanamori, Carmel Moore, Trevor A Mori, Andrew D Morris, Andrew P Morris, Martina Müller-Nurasyid, Patricia B Munroe, Mike A Nalls, Narisu Narisu, Christopher P Nelson, Matt Neville, Sune F Nielsen, Kjell Nikus, Pål R Njølstad, Børge G Nordestgaard, Dale R Nyholt, Jeffrey R O'Connel, Michelle L O'Donoghue, Loes M Olde Loohuis, Roel A Ophoff, Katharine R Owen, Chris J Packard, Sandosh Padmanabhan, Colin N A Palmer, Nicholette D Palmer, Gerard Pasterkamp, Aniruddh P Patel, Alison Pattie, Oluf Pedersen, Peggy L Peissig, Gina M Peloso, Craig E Pennell, Markus Perola, James A Perry, John R B Perry, Tune H Pers, Thomas N Person, Annette Peters, Eva R B Petersen, Patricia A Peyser, Ailith Pirie, Ozren Polasek, Tinca J Polderman, Hannu Puolijoki, Olli T Raitakari, Asif Rasheed, Rainer Rauramaa, Dermot F Reilly, Frida Renström, Myriam Rheinberger, Paul M Ridker, John D Rioux, Manuel A Rivas, David J Roberts, Neil R Robertson, Antonietta Robino, Olov Rolandsson, Igor Rudan, Katherine S Ruth, Danish Saleheen, Veikko Salomaa, Nilesh J Samani, Yadav Sapkota, Naveed Sattar, Robert E Schoen, Pamela J Schreiner, Matthias B Schulze, Robert A Scott, Marcelo P Segura-Lepe, Svati H Shah, Wayne H-H Sheu, Xueling Sim, Andrew J Slater, Kerrin S Small, Albert V Smith, Lorraine Southam, Timothy D Spector, Elizabeth K Speliotes, John M Starr, Kari Stefansson, Valgerdur Steinthorsdottir, Kathleen E Stirrups, Konstantin Strauch, Heather M Stringham, Michael Stumvoll, Liang Sun, Praveen Surendran, Amy J Swift, Hayato Tada, Katherine E Tansey, Jean-Claude Tardif, Kent D Taylor, Alexander Teumer, Deborah J Thompson, Gudmar Thorleifsson, Unnur Thorsteinsdottir, Betina H Thuesen, Anke Tönjes, Gerard Tromp, Stella Trompet, Emmanouil Tsafantakis, Jaakko Tuomilehto, Anne Tybjaerg-Hansen, Jonathan P Tyrer, Rudolf Uher, André G Uitterlinden, Matti Uusitupa, Sander W Laan, Cornelia M Duijn, Nienke Leeuwen, Jessica van Setten, Mauno Vanhala, Anette Varbo, Tibor V Varga, Rohit Varma, Digna R Velez Edwards, Sita H Vermeulen, Giovanni Veronesi, Henrik Vestergaard, Veronique Vitart, Thomas F Vogt, Uwe Völker, Dragana Vuckovic, Lynne E Wagenknecht, Mark Walker, Lars Wallentin, Feijie Wang, Carol A Wang, Shuai Wang, Yiqin Wang, Erin B Ware, Nicholas J Wareham, Helen R Warren, Dawn M Waterworth, Jennifer Wessel, Harvey D White, Cristen J Willer, James G Wilson, Daniel R Witte, Andrew R Wood, Ying Wu, Hanieh Yaghootkar, Jie Yao, Pang Yao, Laura M Yerges-Armstrong, Robin Young, Eleftheria Zeggini, Xiaowei Zhan, Weihua Zhang, Jing Hua Zhao, Wei Zhao, Wei Zhou, Krina T Zondervan, Jerome I Rotter, John A Pospisilik, Fernando Rivadeneira, Ingrid B Borecki, Panos Deloukas, Timothy M Frayling, Guillaume Lettre, Kari E North, Cecilia M Lindgren, Joel N Hirschhorn, Ruth J F Loos
Genome-wide association studies (GWAS) have identified >250 loci for body mass index (BMI), implicating pathways related to neuronal biology. Most GWAS loci represent clusters of common, noncoding variants from which pinpointing causal genes remains challenging. Here we combined data from 718,734 individuals to discover rare and low-frequency (minor allele frequency (MAF) < 5%) coding variants associated with BMI. We identified 14 coding variants in 13 genes, of which 8 variants were in genes (ZBTB7B, ACHE, RAPGEF3, RAB21, ZFHX3, ENTPD6, ZFR2 and ZNF169) newly implicated in human obesity, 2 variants were in genes (MC4R and KSR2) previously observed to be mutated in extreme obesity and 2 variants were in GIPR...
January 2018: Nature Genetics
https://www.readbyqxmd.com/read/29222685/prediction-of-outcome-using-pretreatment-18f-fdg-pet-ct-and-mri-radiomics-in-locally-advanced-cervical-cancer-treated-with-chemoradiotherapy
#5
François Lucia, Dimitris Visvikis, Marie-Charlotte Desseroit, Omar Miranda, Jean-Pierre Malhaire, Philippe Robin, Olivier Pradier, Mathieu Hatt, Ulrike Schick
PURPOSE: The aim of this study is to determine if radiomics features from 18fluorodeoxyglucose (FDG) positron emission tomography/computed tomography (PET/CT) and magnetic resonance imaging (MRI) images could contribute to prognoses in cervical cancer. METHODS: One hundred and two patients (69 for training and 33 for testing) with locally advanced cervical cancer (LACC) receiving chemoradiotherapy (CRT) from 08/2010 to 12/2016 were enrolled in this study. 18F-FDG PET/CT and MRI examination [T1, T2, T1C, diffusion-weighted imaging (DWI)] were performed for each patient before CRT...
December 9, 2017: European Journal of Nuclear Medicine and Molecular Imaging
https://www.readbyqxmd.com/read/29221130/development-and-cytotoxic-response-of-two-proliferative-mda-mb-231-and-non-proliferative-sum1315-three-dimensional-cell-culture-models-of-triple-negative-basal-like-breast-cancer-cell-lines
#6
Dubois Clémence, Dufour Robin, Daumar Pierre, Aubel Corinne, Szczepaniak Claire, Blavignac Christelle, Mounetou Emmanuelle, Penault-Llorca Frédérique, Mahchid Bamdad
Triple-Negative Basal-Like tumors, representing 15 to 20% of breast cancers, are very aggressive and with poor prognosis. Targeted therapies have been developed extensively in preclinical and clinical studies to open the way for new treatment strategies. The present study has focused on developing 3D cell cultures from SUM1315 and MDA-MB-231, two triple-negative basal-like (TNBL) breast cancer cell lines, using the liquid overlay technique. Extracellular matrix concentration, cell density, proliferation, cell viability, topology and ultrastructure parameters were determined...
November 10, 2017: Oncotarget
https://www.readbyqxmd.com/read/29216230/a-comprehensive-scoring-system-in-correlation-with-perioperative-airway-management-for-neonatal-pierre-robin-sequence
#7
Ning Yin, Lei Fang, Xiaohua Shi, Hongqiang Huang, Li Zhang
PURPOSE: To evaluate a comprehensive scoring system which combines clinical manifestations of Pierre Robin Sequence (PRS) including severity of breathing difficulties, body weight and preoperative Cormack-Lehane grade, for its correlation with perioperative PRS airway management decision. DESIGN: Forty PRS children were retrospectively recruited after surgery. Specialists examined all subjects and scored for clinical manifestations (1´ - 4´), weight gain (1´- 4´), dyspnea scores (1´- 4´), and Cormack-Lehane grade (1´- 4´)...
2017: PloS One
https://www.readbyqxmd.com/read/29215441/pierre-robin-sequence-an-evidence-based-treatment-proposal
#8
Oswaldo J Gómez, Oscar I Barón, Martha L Peñarredonda
BACKGROUND: The Pierre Robin sequence (PRS) has been defined as the presence of micrognathia, glossoptosis, and respiratory obstruction in the neonatal period. Since its original description, different therapeutic approaches have been proposed obtaining different success rates, but there is no consensus about its management. METHODS: A literature review was conducted in PubMed, Embase, and Cochrane databases, for the period of January,1985 to November, 2016. A number of 23 articles resulting from clinical studies, discussing diagnostic tests or therapeutic approaches, and directly or indirectly comparing diagnostic or treatment modalities were selected and assessed using the GRADE methodology...
December 6, 2017: Journal of Craniofacial Surgery
https://www.readbyqxmd.com/read/29214289/treated-incidence-of-psychotic-disorders-in-the-multinational-eu-gei-study
#9
Hannah E Jongsma, Charlotte Gayer-Anderson, Antonio Lasalvia, Diego Quattrone, Alice Mulè, Andrei Szöke, Jean-Paul Selten, Caitlin Turner, Celso Arango, Ilaria Tarricone, Domenico Berardi, Andrea Tortelli, Pierre-Michel Llorca, Lieuwe de Haan, Julio Bobes, Miguel Bernardo, Julio Sanjuán, José Luis Santos, Manuel Arrojo, Cristina Marta Del-Ben, Paulo Rossi Menezes, Robin M Murray, Bart P Rutten, Peter B Jones, Jim van Os, Craig Morgan, James B Kirkbride
Importance: Psychotic disorders contribute significantly to the global disease burden, yet the latest international incidence study of psychotic disorders was conducted in the 1980s. Objectives: To estimate the incidence of psychotic disorders using comparable methods across 17 catchment areas in 6 countries and to examine the variance between catchment areas by putative environmental risk factors. Design, Setting, and Participants: An international multisite incidence study (the European Network of National Schizophrenia Networks Studying Gene-Environment Interactions) was conducted from May 1, 2010, to April 1, 2015, among 2774 individuals from England (2 catchment areas), France (3 catchment areas), Italy (3 catchment areas), the Netherlands (2 catchment areas), Spain (6 catchment areas), and Brazil (1 catchment area) with a first episode of nonorganic psychotic disorders (International Statistical Classification of Diseases and Related Health Problems, Tenth Revision [ICD-10] codes F20-F33) confirmed by the Operational Criteria Checklist...
December 6, 2017: JAMA Psychiatry
https://www.readbyqxmd.com/read/29210721/technique-utilizing-a-modified-oral-ring-adair-elwyn-tube-to-provide-continuous-oxygen-and-sevoflurane-delivery-during-nasotracheal-intubation-in-an-infant-with-a-difficult-airway-a-case-report
#10
Janice Y Man, John E Fiadjoe, Grace Hsu
Managing the airway of an infant with Pierre Robin sequence (PRS) is particularly challenging for anesthesiologists. Patients with PRS have the triad of micrognathia, glossoptosis, and airway obstruction that potentially and frequently leads to difficulty with both ventilation and intubation. Thus continuous oxygenation and spontaneous ventilation during intubation are essential. We describe a new method to deliver continuous oxygen and volatile anesthetic during nasotracheal intubation in an infant with PRS...
November 27, 2017: A & A Case Reports
https://www.readbyqxmd.com/read/29195837/evaluation-of-the-efficacy-of-tongue-lip-adhesion-in-pierre-robin-sequence
#11
H Broucqsault, M-D Lamblin, G Hosana, P Fayoux
OBJECTIVE: Tongue-lip adhesion may be used to relieve obstructive sleep apnoea in infants with Pierre Robin sequence (PRS), but only a few studies have objectively evaluated its efficacy. The purpose of this study was to evaluate the results of tongue-lip adhesion by polysomnography. MATERIEL AND METHODS: A single-centre retrospective study was conducted in infants with PRS treated by tongue-lip adhesion from 2004 to 2015, in whom at least laryngotracheal endoscopy and polysomnography were performed...
November 28, 2017: European Annals of Otorhinolaryngology, Head and Neck Diseases
https://www.readbyqxmd.com/read/29178042/correction-to-terminal-weaning-or-immediate-extubation-for-withdrawing-mechanical-ventilation-in-critically-ill-patients-the-arreve-observational-study
#12
René Robert, Amélie Le Gouge, Nancy Kentish-Barnes, Alice Cottereau, Bruno Giraudeau, Mélanie Adda, Djillali Annane, Juliette Audibert, François Barbier, Patrick Bardou, Simon Bourcier, Jeremy Bourenne, Alexandre Boyer, François Brenas, Vincent Das, Arnaud Desachy, Jérôme Devaquet, Marc Feissel, Frédérique Ganster, Maïté Garrouste-Orgeas, Guillaume Grillet, Olivier Guisset, Rebecca Hamidfar-Roy, Anne-Claire Hyacinthe, Sebastien Jochmans, Mercé Jourdain, Alexandre Lautrette, Nicolas Lerolle, Olivier Lesieur, Fabien Lion, Philippe Mateu, Bruno Megarbane, Sybille Merceron, Emmanuelle Mercier, Jonathan Messika, Paul Morin-Longuet, Bénédicte Philippon-Jouve, Jean-Pierre Quenot, Anne Renault, Xavier Repesse, Jean-Philippe Rigaud, Ségolène Robin, Antoine Roquilly, Amélie Seguin, Didier Thevenin, Patrice Tirot, Isabelle Vinatier, Elie Azoulay, Jean Reignier
Correction to: Intensive Care Med (2017) DOI 10.1007/s00134-017-4891-0.
November 24, 2017: Intensive Care Medicine
https://www.readbyqxmd.com/read/29159987/med13l-loss-of-function-variants-in-two-patients-with-syndromic-pierre-robin-sequence
#13
Christopher T Gordon, Maya Chopra, Myriam Oufadem, Olivier Alibeu, Marc Bras, Nathalie Boddaert, Christine Bole-Feysot, Patrick Nitschké, Véronique Abadie, Stanislas Lyonnet, Jeanne Amiel
We report two unrelated patients with Pierre Robin sequence (PRS) and a strikingly similar combination of associated features. Whole exome sequencing was performed for both patients. No single gene containing likely pathogenic point mutations in both patients could be identified, but the finding of an essential splice site mutation in mediator complex subunit 13 like (MED13L) in one patient prompted the investigation of copy number variants in MED13L in the other, leading to the identification of an intragenic deletion...
November 21, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/29155841/habitat-and-soil-related-drivers-of-the-root-associated-fungal-community-of-quercus-suber-in-the-northern-moroccan-forest
#14
Fatima Zahra Maghnia, Younes Abbas, Frédéric Mahé, Benaissa Kerdouh, Estelle Tournier, Mohamed Ouadji, Pierre Tisseyre, Yves Prin, Naïma El Ghachtouli, Salah Eddine Bakkali Yakhlef, Robin Duponnois, Hervé Sanguin
Soil fungi associated with plant roots, notably ectomycorrhizal (EcM) fungi, are central in above- and below-ground interactions in Mediterranean forests. They are a key component in soil nutrient cycling and plant productivity. Yet, major disturbances of Mediterranean forests, particularly in the Southern Mediterranean basin, are observed due to the greater human pressures and climate changes. These disturbances highly impact forest cover, soil properties and consequently the root-associated fungal communities...
2017: PloS One
https://www.readbyqxmd.com/read/29116508/construction-of-a-synthetic-antibody-gene-library-for-the-selection-of-intrabodies-and-antibodies
#15
Déborah Caucheteur, Gautier Robin, Vincent Parez, Pierre Martineau
Libraries of antibody fragments displayed on filamentous phages have proved their value to generate human antibodies against virtually any target. We describe here a simple protocol to make large and diverse libraries based on a single or a limited number of frameworks. The approach is flexible enough to be used with any antibody format, either single-chain (scFv, VHH) or multi-chain (Fv, Fab, (Fab')2), and to target in a single step the six complementarity-determining regions-or any other part-of the antibody molecule...
2018: Methods in Molecular Biology
https://www.readbyqxmd.com/read/29084117/a-review-of-randomized-controlled-trials-in-cleft-and-craniofacial-surgery
#16
Jonathan M Bekisz, Elise Fryml, Roberto L Flores
This study presents a systematic review of randomized controlled trials (RCTs) in cleft and craniofacial surgery. All studies reporting on RCTs in cleft and craniofacial surgery were identified on PubMed using the search terms "cleft," "velopharyngeal insufficiency," "velopharyngeal dysfunction," "nasoalveolar molding," "gingivoperiosteoplasty," "Pierre Robin sequence," "craniofacial," "craniosynostosis," "craniofacial microsomia," "hemifacial microsomia," "hypertelorism," "Le Fort," "monobloc," "distraction osteogenesis," "Treacher Collins," and "Goldenhar...
October 27, 2017: Journal of Craniofacial Surgery
https://www.readbyqxmd.com/read/29083408/exome-wide-association-study-of-plasma-lipids-in-300-000-individuals
#17
Dajiang J Liu, Gina M Peloso, Haojie Yu, Adam S Butterworth, Xiao Wang, Anubha Mahajan, Danish Saleheen, Connor Emdin, Dewan Alam, Alexessander Couto Alves, Philippe Amouyel, Emanuele Di Angelantonio, Dominique Arveiler, Themistocles L Assimes, Paul L Auer, Usman Baber, Christie M Ballantyne, Lia E Bang, Marianne Benn, Joshua C Bis, Michael Boehnke, Eric Boerwinkle, Jette Bork-Jensen, Erwin P Bottinger, Ivan Brandslund, Morris Brown, Fabio Busonero, Mark J Caulfield, John C Chambers, Daniel I Chasman, Y Eugene Chen, Yii-Der Ida Chen, Rajiv Chowdhury, Cramer Christensen, Audrey Y Chu, John M Connell, Francesco Cucca, L Adrienne Cupples, Scott M Damrauer, Gail Davies, Ian J Deary, George Dedoussis, Joshua C Denny, Anna Dominiczak, Marie-Pierre Dubé, Tapani Ebeling, Gudny Eiriksdottir, Tõnu Esko, Aliki-Eleni Farmaki, Mary F Feitosa, Marco Ferrario, Jean Ferrieres, Ian Ford, Myriam Fornage, Paul W Franks, Timothy M Frayling, Ruth Frikke-Schmidt, Lars G Fritsche, Philippe Frossard, Valentin Fuster, Santhi K Ganesh, Wei Gao, Melissa E Garcia, Christian Gieger, Franco Giulianini, Mark O Goodarzi, Harald Grallert, Niels Grarup, Leif Groop, Megan L Grove, Vilmundur Gudnason, Torben Hansen, Tamara B Harris, Caroline Hayward, Joel N Hirschhorn, Oddgeir L Holmen, Jennifer Huffman, Yong Huo, Kristian Hveem, Sehrish Jabeen, Anne U Jackson, Johanna Jakobsdottir, Marjo-Riitta Jarvelin, Gorm B Jensen, Marit E Jørgensen, J Wouter Jukema, Johanne M Justesen, Pia R Kamstrup, Stavroula Kanoni, Fredrik Karpe, Frank Kee, Amit V Khera, Derek Klarin, Heikki A Koistinen, Jaspal S Kooner, Charles Kooperberg, Kari Kuulasmaa, Johanna Kuusisto, Markku Laakso, Timo Lakka, Claudia Langenberg, Anne Langsted, Lenore J Launer, Torsten Lauritzen, David C M Liewald, Li An Lin, Allan Linneberg, Ruth J F Loos, Yingchang Lu, Xiangfeng Lu, Reedik Mägi, Anders Malarstig, Ani Manichaikul, Alisa K Manning, Pekka Mäntyselkä, Eirini Marouli, Nicholas G D Masca, Andrea Maschio, James B Meigs, Olle Melander, Andres Metspalu, Andrew P Morris, Alanna C Morrison, Antonella Mulas, Martina Müller-Nurasyid, Patricia B Munroe, Matt J Neville, Jonas B Nielsen, Sune F Nielsen, Børge G Nordestgaard, Jose M Ordovas, Roxana Mehran, Christoper J O'Donnell, Marju Orho-Melander, Cliona M Molony, Pieter Muntendam, Sandosh Padmanabhan, Colin N A Palmer, Dorota Pasko, Aniruddh P Patel, Oluf Pedersen, Markus Perola, Annette Peters, Charlotta Pisinger, Giorgio Pistis, Ozren Polasek, Neil Poulter, Bruce M Psaty, Daniel J Rader, Asif Rasheed, Rainer Rauramaa, Dermot F Reilly, Alex P Reiner, Frida Renström, Stephen S Rich, Paul M Ridker, John D Rioux, Neil R Robertson, Dan M Roden, Jerome I Rotter, Igor Rudan, Veikko Salomaa, Nilesh J Samani, Serena Sanna, Naveed Sattar, Ellen M Schmidt, Robert A Scott, Peter Sever, Raquel S Sevilla, Christian M Shaffer, Xueling Sim, Suthesh Sivapalaratnam, Kerrin S Small, Albert V Smith, Blair H Smith, Sangeetha Somayajula, Lorraine Southam, Timothy D Spector, Elizabeth K Speliotes, John M Starr, Kathleen E Stirrups, Nathan Stitziel, Konstantin Strauch, Heather M Stringham, Praveen Surendran, Hayato Tada, Alan R Tall, Hua Tang, Jean-Claude Tardif, Kent D Taylor, Stella Trompet, Philip S Tsao, Jaakko Tuomilehto, Anne Tybjaerg-Hansen, Natalie R van Zuydam, Anette Varbo, Tibor V Varga, Jarmo Virtamo, Melanie Waldenberger, Nan Wang, Nick J Wareham, Helen R Warren, Peter E Weeke, Joshua Weinstock, Jennifer Wessel, James G Wilson, Peter W F Wilson, Ming Xu, Hanieh Yaghootkar, Robin Young, Eleftheria Zeggini, He Zhang, Neil S Zheng, Weihua Zhang, Yan Zhang, Wei Zhou, Yanhua Zhou, Magdalena Zoledziewska, Joanna M M Howson, John Danesh, Mark I McCarthy, Chad A Cowan, Goncalo Abecasis, Panos Deloukas, Kiran Musunuru, Cristen J Willer, Sekar Kathiresan
We screened variants on an exome-focused genotyping array in >300,000 participants (replication in >280,000 participants) and identified 444 independent variants in 250 loci significantly associated with total cholesterol (TC), high-density-lipoprotein cholesterol (HDL-C), low-density-lipoprotein cholesterol (LDL-C), and/or triglycerides (TG). At two loci (JAK2 and A1CF), experimental analysis in mice showed lipid changes consistent with the human data. We also found that: (i) beta-thalassemia trait carriers displayed lower TC and were protected from coronary artery disease (CAD); (ii) excluding the CETP locus, there was not a predictable relationship between plasma HDL-C and risk for age-related macular degeneration; (iii) only some mechanisms of lowering LDL-C appeared to increase risk for type 2 diabetes (T2D); and (iv) TG-lowering alleles involved in hepatic production of TG-rich lipoproteins (TM6SF2 and PNPLA3) tracked with higher liver fat, higher risk for T2D, and lower risk for CAD, whereas TG-lowering alleles involved in peripheral lipolysis (LPL and ANGPTL4) had no effect on liver fat but decreased risks for both T2D and CAD...
October 30, 2017: Nature Genetics
https://www.readbyqxmd.com/read/29069271/intensive-treatment-of-speech-disorders-in-robin-sequence-a-case-report
#18
Maria Daniela Borro Pinto, Maria Inês Pegoraro-Krook, Laura Katarine Félix de Andrade, Ana Paula Carvalho Correa, Linda Iris Rosa-Lugo, Jeniffer de Cássia Rillo Dutka
PURPOSE: To describe the speech of a patient with Pierre Robin Sequence (PRS) and severe speech disorders before and after participating in an Intensive Speech Therapy Program (ISTP). METHODS: The ISTP consisted of two daily sessions of therapy over a 36-week period, resulting in a total of 360 therapy sessions. The sessions included the phases of establishment, generalization, and maintenance. A combination of strategies, such as modified contrast therapy and speech sound perception training, were used to elicit adequate place of articulation...
October 23, 2017: CoDAS
https://www.readbyqxmd.com/read/29059477/interdependency-of-efficient-nodulation-and-arbuscular-mycorrhization-in-piptadenia-gonoacantha-a-brazilian-legume-tree
#19
Caroline Bournaud, Euan K James, Sergio M de Faria, Michel Lebrun, Rémy Melkonian, Robin Duponnois, Pierre Tisseyre, Lionel Moulin, Yves Prin
Tripartite interactions between legumes and their root symbionts (rhizobia, arbuscular mycorrhizal fungi (AMF)) are poorly understood, although it is well established that only specific combinations of symbionts lead to optimal plant growth. A classic example in which to investigate such interactions is the Brazilian legume tree Piptadenia gonoacantha (Caesalpinioideae), for which efficient nodulation has been described as dependent on the presence of AMF symbiosis. In this study we compared the nodulation behaviour of several rhizobial strains with or without AMF inoculation, and performed analyses on nodulation, nodule cytology, N-fixing efficiency and plant growth response...
October 23, 2017: Plant, Cell & Environment
https://www.readbyqxmd.com/read/29043465/comparison-of-strain-imaging-techniques-in-crt-candidates-cmr-tagging-cmr-feature-tracking-and-speckle-tracking-echocardiography
#20
Wouter M van Everdingen, Alwin Zweerink, Robin Nijveldt, Odette A E Salden, Mathias Meine, Alexander H Maass, Kevin Vernooy, Frederik J De Lange, Albert C van Rossum, Pierre Croisille, Patrick Clarysse, Bastiaan Geelhoed, Michiel Rienstra, Isabelle C Van Gelder, Marc A Vos, Cornelis P Allaart, Maarten J Cramer
Parameters using myocardial strain analysis may predict response to cardiac resynchronization therapy (CRT). As the agreement between currently available strain imaging modalities is unknown, three different modalities were compared. Twenty-seven CRT-candidates, prospectively included in the MARC study, underwent cardiac magnetic resonance (CMR) imaging and echocardiographic examination. Left ventricular (LV) circumferential strain was analysed with CMR tagging (CMR-TAG), CMR feature tracking (CMR-FT), and speckle tracking echocardiography (STE)...
October 17, 2017: International Journal of Cardiovascular Imaging
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