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https://www.readbyqxmd.com/read/28431879/improvement-of-herg-romk-index-of-spirocyclic-romk-inhibitors-through-scaffold-optimization-and-incorporation-of-novel-pharmacophores
#1
Shuzhi Dong, Kelsey VanGelder, Zhi-Cai Shi, Yang Yu, Zhicai Wu, Ron Ferguson, Zack Zhiqiang Guo, Haifeng Tang, Jessica Frie, Qinghong Fu, Xin Gu, Birgit T Priest, Brande Thomas-Fowlkes, Adam Weinglass, Michael Margulis, Jessica Liu, Lee-Yuh Pai, Caryn Hampton, Robin E Haimbach, Karen Owens, Vincent Tong, Shiyao Xu, Mengwei Hu, Gloria J Zingaro, Pierre Morissette, Juliann Ehrhart, Sophie Roy, Kathleen Sullivan, Alexander Pasternak
SAR in the previously described spirocyclic ROMK inhibitor series was further evolved from lead 4 by modification of the spirocyclic core and identification of novel right-side pharmacophores. In this process, it was discovered that the spiropyrrolidinone core with the carbonyl group α to the spirocenter was preferred for potent ROMK activity. Efforts aimed at decreasing hERG affinity within the series led to the discovery of multiple novel right-hand pharmacophores including 3-methoxythiadiazole, 2-methoxypyrimidine, and pyridazinone...
March 30, 2017: Bioorganic & Medicinal Chemistry Letters
https://www.readbyqxmd.com/read/28424158/generation-of-a-multipurpose-prdm16-allele-by-targeted-trapping
#2
A Strassman, F Schnütgen, Q Dai, J C Jones, A C Gomez, L Pitstick, N E Holton, R Moskal, E R Leslie, H von Melchner, D R Beier, B C Bjork
Gene trap mutagenesis is a powerful tool to create loss-of-function mutations in mice and other model organisms. Modifications of traditional gene trap cassettes, including addition of conditional features in the form of Flip-excision (FlEx) arrays enabling directional gene trap cassette inversions by Cre and Flpe site-specific recombinases, greatly enhanced their experimental potential. By taking advantage of these conditional gene trap cassettes, we developed a generic strategy for generating conditional mutations and validated this strategy in mice carrying a multipurpose allele of the Prdm16 transcription factor gene...
April 19, 2017: Disease Models & Mechanisms
https://www.readbyqxmd.com/read/28422407/mutations-in-tgds-associated-with-additional-malformations-of-the-middle-fingers-and-halluces-atypical-catel-manzke-syndrome-in-a-fetus
#3
Katharina Schoner, Rainer Bald, Denise Horn, Helga Rehder, Uwe Kornak, Nadja Ehmke
Pierre-Robin sequence, radial deviation, and ulnar clinodactyly of the index fingers due to an additional phalangeal bone, as well as heart defects are the key features of Catel-Manzke syndrome. Although mutations in TGDS were identified as the cause of this disorder, the pathogenetic mechanism remains unknown. Here, we report on a fetus with severe heart defect, nuchal edema, talipes, Pierre-Robin sequence, and bilateral deviation and clinodactyly of the index and middle fingers. Pregnancy was terminated at the 22nd week of gestation...
April 19, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28418932/bmpr1b-mutation-causes-pierre-robin-sequence
#4
Yongjia Yang, Jianying Yuan, Xu Yao, Rong Zhang, Hui Yang, Rui Zhao, Jihong Guo, Ke Jin, Haibo Mei, Yongqi Luo, Liu Zhao, Ming Tu, Yimin Zhu
BACKGROUND: We investigated a large family with Pierre Robin sequence (PRS). AIM OF THE STUDY: This study aims to determine the genetic cause of PRS. RESULTS: The reciprocal translocation t(4;6)(q22;p21) was identified to be segregated with PRS in a three-generation family. Whole-genome sequencing and Sanger sequencing successfully detected breakpoints in the intragenic regions of BMRP1B and GRM4. We hypothesized that PRS in this family was caused by (i) haploinsufficiency for BMPR1B or (ii) a gain of function mechanism mediated by the BMPR1B-GRM4 fusion gene...
April 23, 2017: Oncotarget
https://www.readbyqxmd.com/read/28416471/chemotherapy-resistant-human-acute-myeloid-leukemia-cells-are-not-enriched-for-leukemic-stem-cells-but-require-oxidative-metabolism
#5
Thomas Farge, Estelle Saland, Fabienne de Toni, Nesrine Aroua, Moshen Hosseini, Robin Perry, Claudie Bosc, Mayumi Sugita, Lucille Stuani, Marine Fraisse, Sarah Scotland, Clément Larrue, Héléna Boutzen, Virginie Féliu, Marie-Laure Nicolau-Travers, Stephanie Cassant-Sourdy, Nicolas Broin, Marion David, Nizar Serhan, Audrey Sarry, Suzanne Tavitian, Tony Kaoma, Laurent Vallar, Jason Iacovoni, Laetitia K Linares, Camille Montersino, Remy Castellano, Emmanuel Griessinger, Yves Collette, Olivier Duchamp, Yara Barreira, Pierre Hirsch, Tony Palama, Lara Gales, Francois Delhommeau, Barbara H Garmy-Susini, Jean-Charles Portais, Francois Vergez, Mary Selak, Gwenn Danet-Desnoyers, Martin Carroll, Christian Récher, Jean Emmanuel Sarry
Chemotherapy-resistant human acute myeloid leukemia (AML) cells are thought to be enriched in quiescent immature leukemic stem cells (LSCs). To validate this hypothesis in vivo, we developed a clinically relevant chemotherapeutic approach treating patient-derived xenograft (PDX) with cytarabine. Cytarabine residual AML cells are enriched neither in immature, quiescent cells nor LSCs. Strikingly, cytarabine-resistant pre-existing and persisting cells displayed high levels of reactive oxygen species, showed increased mitochondrial mass, and retained active polarized mitochondria, consistent with a high oxidative phosphorylation (OXPHOS) status...
April 17, 2017: Cancer Discovery
https://www.readbyqxmd.com/read/28405321/the-expansion-of-endoscopic-submucosal-dissection-in-france-a-prospective-nationwide-survey
#6
Maximilien Barret, Vincent Lepilliez, Dimitri Coumaros, Stanislas Chaussade, Sarah Leblanc, Thierry Ponchon, Fabien Fumex, Edouard Chabrun, Paul Bauret, Christophe Cellier, Emmanuel Coron, Philippe Bichard, Philippe Bulois, Antoine Charachon, Gabriel Rahmi, Serge Bellon, Marc Lerhun, Jean-Pierre Arpurt, Stéphane Koch, Bertrand Napoleon, Eric Vaillant, Anouk Esch, Said Farhat, Francoise Robin, Nadira Kaddour, Frédéric Prat
INTRODUCTION: Early reports of endoscopic submucosal dissection (ESD) in Europe suggested high complication rates and disappointing outcomes compared to publications from Japan. Since 2008, we have been conducting a nationwide survey to monitor the outcomes and complications of ESD over time. MATERIAL AND METHODS: All consecutive ESD cases from 14 centers in France were prospectively included in the database. Demographic, procedural, outcome and follow-up data were recorded...
February 2017: United European Gastroenterology Journal
https://www.readbyqxmd.com/read/28398045/conformational-effects-through-hydrogen-bonding-in-a-constrained-%C3%AE-peptide-template-from-intraresidue-seven-membered-rings-to-a-gel-forming-sheet-structure
#7
Hawraà Awada, Claire M Grison, Florence Charnay-Pouget, Jean-Pierre Baltaze, François Brisset, Régis Guillot, Sylvie Robin, Ali Hachem, Nada Jaber, Daoud Naoufal, Ogaritte Yazbeck, David J Aitken
A series of three short oligomers (di-, tri-, and tetramers) of cis-2-(aminomethyl)cyclobutane carboxylic acid, a γ-amino acid featuring a cyclobutane ring constraint, were prepared, and their conformational behavior was examined spectroscopically and by molecular modeling. In dilute solutions, these peptides showed a number of low-energy conformers, including ribbonlike structures pleated around a rarely observed series of intramolecular seven-membered hydrogen bonds. In more concentrated solutions, these interactions defer to an organized supramolecular assembly, leading to thermoreversible organogel formation notably for the tripeptide, which produced fibrillar xerogels...
April 21, 2017: Journal of Organic Chemistry
https://www.readbyqxmd.com/read/28394329/a-stemness-related-zeb1-msrb3-axis-governs-cellular-pliancy-and-breast-cancer-genome-stability
#8
Anne-Pierre Morel, Christophe Ginestier, Roxane M Pommier, Olivier Cabaud, Emmanuelle Ruiz, Julien Wicinski, Mojgan Devouassoux-Shisheboran, Valérie Combaret, Pascal Finetti, Christelle Chassot, Christiane Pinatel, Frédérique Fauvet, Pierre Saintigny, Emilie Thomas, Caroline Moyret-Lalle, Joël Lachuer, Emmanuelle Despras, Jean-Luc Jauffret, François Bertucci, Jérôme Guitton, Anne Wierinckx, Qing Wang, Nina Radosevic-Robin, Frédérique Penault-Llorca, David G Cox, Frédéric Hollande, Stéphane Ansieau, Julie Caramel, Daniel Birnbaum, Arnaud M Vigneron, Agnès Tissier, Emmanuelle Charafe-Jauffret, Alain Puisieux
Chromosomal instability (CIN), a feature of most adult neoplasms from their early stages onward, is a driver of tumorigenesis. However, several malignancy subtypes, including some triple-negative breast cancers, display a paucity of genomic aberrations, thus suggesting that tumor development may occur in the absence of CIN. Here we show that the differentiation status of normal human mammary epithelial cells dictates cell behavior after an oncogenic event and predetermines the genetic routes toward malignancy...
April 10, 2017: Nature Medicine
https://www.readbyqxmd.com/read/28372992/the-effects-of-clinical-factors-on-airway-outcomes-of-mandibular-distraction-osteogenesis-in-children-with-pierre-robin-sequence
#9
REVIEW
X C Ren, Z W Gao, Y F Li, Y Liu, B Ye, S S Zhu
Mandibular distraction osteogenesis (MDO) is an effective treatment for tongue-based airway obstruction in children with severe Pierre Robin sequence. An investigation was performed to determine whether certain clinical factors influence the airway outcomes of MDO. A literature search of several databases was performed to identify studies providing individual patient data. Data extracted from the studies included patient sex, age at distraction, disease type, experience of any previous surgery on the airway, length of distraction, pre- and postoperative blood oxygen saturation nadir, and osteotomy design...
March 31, 2017: International Journal of Oral and Maxillofacial Surgery
https://www.readbyqxmd.com/read/28363909/a-phase-1b-dose-escalation-study-of-encorafenib-lgx818-and-cetuximab-with-or-without-alpelisib-in-metastatic-braf-mutant-colorectal-cancer
#10
Robin M J M van Geel, Josep Tabernero, Elena Elez, Johanna C Bendell, Anna Spreafico, Martin Schuler, Takayuki Yoshino, Jean-Pierre Delord, Yasuhide Yamada, Martijn Lolkema, Jason E Faris, Ferry A L M Eskens, Sunil Sharma, Rona Yaeger, Heinz-Josef Lenz, Zev A Wainberg, Emin Avsar, Arkendu Chatterjee, Savina Jaeger, Eugene Tan, Kati Maharry, Tim Demuth, Jan H M Schellens
Preclinical evidence suggests that concomitant BRAF and EGFR inhibition leads to sustained suppression of MAPK signaling and suppressed tumor growth in BRAF V600E colorectal cancer (CRC) models. Patients with refractory BRAF V600-mutant metastatic CRC (mCRC) were treated with a selective RAF kinase inhibitor (encorafenib) plus a monoclonal antibody targeting EGFR (cetuximab), with (n = 28) or without (n = 26) a PI3K-alpha inhibitor (alpelisib). The primary objective was to determine the maximum tolerated dose (MTD) or a recommended phase 2 dose...
March 31, 2017: Cancer Discovery
https://www.readbyqxmd.com/read/28350680/airway-and-feeding-outcomes-of-mandibular-distraction-tongue-lip-adhesion-and-conservative-management-in-pierre-robin-sequence-a-prospective-study
#11
Ibrahim Khansa, Courtney Hall, Lauren L Madhoun, Mark Splaingard, Adriane Baylis, Richard E Kirschner, Gregory D Pearson
BACKGROUND: Pierre Robin sequence is characterized by mandibular retrognathia and glossoptosis resulting in airway obstruction and feeding difficulties. When conservative management fails, mandibular distraction osteogenesis or tongue-lip adhesion may be required to avoid tracheostomy. The authors' goal was to prospectively evaluate the airway and feeding outcomes of their comprehensive approach to Pierre Robin sequence, which includes conservative management, mandibular distraction osteogenesis, and tongue-lip adhesion...
April 2017: Plastic and Reconstructive Surgery
https://www.readbyqxmd.com/read/28328130/targeted-molecular-investigation-in-patients-within-the-clinical-spectrum-of-auriculocondylar-syndrome
#12
Vanessa L Romanelli Tavares, Roseli M Zechi-Ceide, Debora R Bertola, Christopher T Gordon, Simone G Ferreira, Gabriella S P Hsia, Guilherme L Yamamoto, Suzana A M Ezquina, Nancy M Kokitsu-Nakata, Siulan Vendramini-Pittoli, Renato S Freitas, Josiane Souza, Cesar A Raposo-Amaral, Mayana Zatz, Jeanne Amiel, Maria L Guion-Almeida, Maria Rita Passos-Bueno
Auriculocondylar syndrome, mainly characterized by micrognathia, small mandibular condyle, and question mark ears, is a rare disease segregating in an autosomal dominant pattern in the majority of the families reported in the literature. So far, pathogenic variants in PLCB4, GNAI3, and EDN1 have been associated with this syndrome. It is caused by a developmental abnormality of the first and second pharyngeal arches and it is associated with great inter- and intra-familial clinical variability, with some patients not presenting the typical phenotype of the syndrome...
April 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28326563/early-structural-and-functional-signature-of-3-day-human-skeletal-muscle-disuse-using-the-dry-immersion-model
#13
Rémi Demangel, Loïc Treffel, Guillaume Py, Thomas Brioche, Allan F Pagano, Marie-Pierre Bareille, Arnaud Beck, Laurence Pessemesse, Robin Candau, Claude Gharib, Angèle Chopard, Catherine Millet
Microgravity and hypoactivity are associated with skeletal muscle deconditioning. The decrease of muscle mass is an exponential decay with major changes in the first days. The purpose of the study was to dissect out the effects of a short-term 3-day dry immersion (DI) on human quadriceps muscle function and structure. The DI model, by suppressing all support zones, accurately reproduces the effects of microgravity. Twelve healthy volunteers (32 ± 5 yrs) completed 3 days of DI. Muscle function was investigated through maximal voluntary contraction (MVC) tests and muscle viscoelasticity...
March 22, 2017: Journal of Physiology
https://www.readbyqxmd.com/read/28296682/causes-and-characteristics-of-death-in-intensive-care-units-a-prospective-multicenter-study
#14
Jean-Christophe Orban, Yannick Walrave, Nicolas Mongardon, Bernard Allaouchiche, Laurent Argaud, Frédéric Aubrun, Geneviève Barjon, Jean-Michel Constantin, Gilles Dhonneur, Jacques Durand-Gasselin, Hervé Dupont, Michèle Genestal, Chloé Goguey, Philippe Goutorbe, Bertrand Guidet, Hervé Hyvernat, Samir Jaber, Jean-Yves Lefrant, Yannick Mallédant, Jerôme Morel, Alexandre Ouattara, Nicolas Pichon, Anne-Marie Guérin Robardey, Michel Sirodot, Alexandre Theissen, Sandrine Wiramus, Laurent Zieleskiewicz, Marc Leone, Carole Ichai, Michel Wagner, Karim Merouani, Laurent Beydon, Thomas Gaillard, Sigismond Lasocki, Ludovic Grech, Olivier Raguin, Anke Zur Nieden, Dominique Royer, Ahmed Abid, Pierre Courant, Vincent Cottenceau, Laurent Petit, François Sztarck, Didier Fourel, Chloé Thill, Isabelle Cattaneo, Jean-François Loriferne, Mehdi Azale, Jean-Luc Hanouz, Gérard Viquesnel, Jean-François Césari, Annie Freche, Alain Rime, Richard Monarchi, Samuel Fedun, Bernard Just, Philippe Berger, Adel Ben Salah, Pierre Kalfon, Stéphane De Rudnicki, Nicolas Libert, Mireille Adda, Russell Chabanne, Sophie Kauffmann, Bertrand Nougarède, Bertrand Souweine, Roland Amathieu, Hakim Haouache, Jean-Claude Merle, Philippe Brofferio, Michel Kaidomar, Michel Durand, Sylvaine Robin, Thierry Vanderlinden, Frédéric Dailler, Claude Guérin, Thomas Rizenthaler, Emmanuel Vivier, Eric Delpierre, Laure Gazaigne, Salah Boussen, Nicolas Bruder, Marie-Elisabeth Cornesse, Sami Hraiech, Laurent Papazian, François Mijon, Frédéric Bellec, Jérôme Roustan, Michel Pascal, Nelly Perez, Robert Chausset, Pablo Massanet, Pierre-François Perrigault, Jean-Louis Pallot, Carole Mariatte, Karim Asehnoune, Raphael Cinotti, Karim Lakhal, Pierre Eric Danin, Toufic Finge, Emmanuel Couadau, François Baudin, Cédric Bruel, Benoit Eurin, Hanene Harabi, Laurent Jacob, Christian Lamer, Thomas Lescot, Benoit Misset, Catherine Paugam, Romain Pirracchio, Christophe Quesnel, Marc Samama, Benoit Schlemmer, Philippe Badia, Thierry Bénard, Claire Dahyot, Thomas Kerforne, Olivier Mimoz, Jean-Christophe Farkas, Bruno Lafon, Pierre Raclot, Pascal Beuret, Arnaud Delahaye, Erik Blondeau, Delphine Colling, Christian Lemaire, Jean-Paul Gouello, Stéphane Merat, Pierre Pasquier, Sami Alaya, Karima Tassaioust, Pierre Ubrich, Marine Tasle, Hugues Georges, Fabien Lambiotte
BACKGROUND: Different modes of death are described in selected populations, but few data report the characteristics of death in a general intensive care unit population. This study analyzed the causes and characteristics of death of critically ill patients and compared anticipated death patients to unexpected death counterparts. METHODS: An observational multicenter cohort study was performed in 96 intensive care units. During 1 yr, each intensive care unit was randomized to participate during a 1-month period...
May 2017: Anesthesiology
https://www.readbyqxmd.com/read/28288578/case-report-of-pierre-robin-sequence-with-severe-upper-airway-obstruction-who-was-rescued-by-fiberoptic-nasotracheal-intubation
#15
Satoru Takeshita, Hiroko Ueda, Tatenobu Goto, Daisuke Muto, Hiroki Kakita, Kazuo Oshima, Takahisa Tainaka, Takayuki Ono, Yoshiaki Kazaoka, Yasumasa Yamada
BACKGROUND: Pierre Robin sequence (PRS) refers to the association of micrognathia, glossoptosis, and airway obstruction. Cases with severe dyspnea due to upper airway obstruction immediately after birth are very rare. We here report two cases with PRS who developed severe dyspnea due to morphological abnormality immediately after birth and were rescued by fiberoptic nasotracheal intubation. CASE PRESENTATION: The patient in case 1 had micrognathia and cleft palate, and his tongue protruded into the nasal cavity via a cleft palate...
March 14, 2017: BMC Anesthesiology
https://www.readbyqxmd.com/read/28285101/comparative-toxicity-of-mono-and-bifunctional-alkylating-homologues-of-sulphur-mustard-in-human-skin-keratinocytes
#16
Thomas W Sawyer, Karin McNeely, Kristen Louis, Pierre Lecavalier, Yanfeng Song, Mercy Villanueva, Robin Clewley
Sulphur mustard (bis(2-chloroethyl) sulphide; agent H) is a vesicant chemical warfare (CW) agent whose mechanism of action is not known with any certainty and for which there are no effective antidotes. It has a pronounced latent period before signs and symptoms of poisoning appear which it shares with the nitrogen mustards, and that differentiates it from other classes of vesicant agents. Sulphur mustard, the sulphur mustard CW agents Q (1,2-bis(2-chloroethylthio) ethane) and T (1,1 bis(2-chloroethylthioethyl) ether), the H partial hydrolysis product hemi-sulphur mustard (2-chloroethyl 2-hydroxyethyl sulphide; HSM), and the commercially available 2-chloroethyl ethyl sulphide (CEES) were characterized with respect to their toxicity in first passage cultures of proliferating human skin keratinocytes, the target cell of H-induced skin vesication...
March 8, 2017: Toxicology
https://www.readbyqxmd.com/read/28263422/correlation-between-fluorodeoxyglucose-hotspots-on-pretreatment-positron-emission-tomography-ct-and-preferential-sites-of-local-relapse-after-chemoradiotherapy-for-head-and-neck-squamous-cell-carcinoma
#17
Anne Chaput, Jérémie Calais, Philippe Robin, Sébastien Thureau, David Bourhis, Romain Modzelewski, Ulrike Schick, Pierre Vera, Pierre-Yves Salaün, Ronan Abgral
BACKGROUND: The potential benefits of (18) F-fluoro-2-deoxy-D-glucose-positron emission tomography/CT (FDG-PET/CT) imaging for radiotherapy (RT) treatment planning of head and neck squamous cell carcinoma (HNSCC) are increasingly being recognized. It has been suggested that intratumoral subvolumes with high FDG avidity ("hotspots") are potential targets for selected dose escalation. The purposes of this study were to demonstrate that pre-RT FDG-PET/CT can identify intratumoral sites at increased risk of local relapse after RT and to determine an optimal threshold to delineate smaller RT target volumes that would facilitate RT dose escalation without impaired tolerance...
March 6, 2017: Head & Neck
https://www.readbyqxmd.com/read/28209224/systematic-evaluation-of-pleiotropy-identifies-6-further-loci-associated-with%C3%A2-coronary-artery%C3%A2-disease
#18
Thomas R Webb, Jeanette Erdmann, Kathleen E Stirrups, Nathan O Stitziel, Nicholas G D Masca, Henning Jansen, Stavroula Kanoni, Christopher P Nelson, Paola G Ferrario, Inke R König, John D Eicher, Andrew D Johnson, Stephen E Hamby, Christer Betsholtz, Arno Ruusalepp, Oscar Franzén, Eric E Schadt, Johan L M Björkegren, Peter E Weeke, Paul L Auer, Ursula M Schick, Yingchang Lu, He Zhang, Marie-Pierre Dube, Anuj Goel, Martin Farrall, Gina M Peloso, Hong-Hee Won, Ron Do, Erik van Iperen, Jochen Kruppa, Anubha Mahajan, Robert A Scott, Christina Willenborg, Peter S Braund, Julian C van Capelleveen, Alex S F Doney, Louise A Donnelly, Rosanna Asselta, Pier A Merlini, Stefano Duga, Nicola Marziliano, Josh C Denny, Christian Shaffer, Nour Eddine El-Mokhtari, Andre Franke, Stefanie Heilmann, Christian Hengstenberg, Per Hoffmann, Oddgeir L Holmen, Kristian Hveem, Jan-Håkan Jansson, Karl-Heinz Jöckel, Thorsten Kessler, Jennifer Kriebel, Karl L Laugwitz, Eirini Marouli, Nicola Martinelli, Mark I McCarthy, Natalie R Van Zuydam, Christa Meisinger, Tõnu Esko, Evelin Mihailov, Stefan A Escher, Maris Alver, Susanne Moebus, Andrew D Morris, Jarma Virtamo, Majid Nikpay, Oliviero Olivieri, Sylvie Provost, Alaa AlQarawi, Neil R Robertson, Karen O Akinsansya, Dermot F Reilly, Thomas F Vogt, Wu Yin, Folkert W Asselbergs, Charles Kooperberg, Rebecca D Jackson, Eli Stahl, Martina Müller-Nurasyid, Konstantin Strauch, Tibor V Varga, Melanie Waldenberger, Lingyao Zeng, Rajiv Chowdhury, Veikko Salomaa, Ian Ford, J Wouter Jukema, Philippe Amouyel, Jukka Kontto, Børge G Nordestgaard, Jean Ferrières, Danish Saleheen, Naveed Sattar, Praveen Surendran, Aline Wagner, Robin Young, Joanna M M Howson, Adam S Butterworth, John Danesh, Diego Ardissino, Erwin P Bottinger, Raimund Erbel, Paul W Franks, Domenico Girelli, Alistair S Hall, G Kees Hovingh, Adnan Kastrati, Wolfgang Lieb, Thomas Meitinger, William E Kraus, Svati H Shah, Ruth McPherson, Marju Orho-Melander, Olle Melander, Andres Metspalu, Colin N A Palmer, Annette Peters, Daniel J Rader, Muredach P Reilly, Ruth J F Loos, Alex P Reiner, Dan M Roden, Jean-Claude Tardif, John R Thompson, Nicholas J Wareham, Hugh Watkins, Cristen J Willer, Nilesh J Samani, Heribert Schunkert, Panos Deloukas, Sekar Kathiresan
BACKGROUND: Genome-wide association studies have so far identified 56 loci associated with risk of coronary artery disease (CAD). Many CAD loci show pleiotropy; that is, they are also associated with other diseases or traits. OBJECTIVES: This study sought to systematically test if genetic variants identified for non-CAD diseases/traits also associate with CAD and to undertake a comprehensive analysis of the extent of pleiotropy of all CAD loci. METHODS: In discovery analyses involving 42,335 CAD cases and 78,240 control subjects we tested the association of 29,383 common (minor allele frequency >5%) single nucleotide polymorphisms available on the exome array, which included a substantial proportion of known or suspected single nucleotide polymorphisms associated with common diseases or traits as of 2011...
February 21, 2017: Journal of the American College of Cardiology
https://www.readbyqxmd.com/read/28197218/polysomnographic-findings-in-infants-with-pierre-robin-sequence
#19
Abdullah Khayat, Saadoun Bin-Hassan, Suhail Al-Saleh
INTRODUCTION: Pierre Robin sequence (PRS) is characterized by the triad of micrognathia, glossoptosis, and upper airway obstruction. It is commonly associated with the secondary cleft palate. Infants with PRS commonly have sleep-disordered breathing (SDB); including obstructive sleep apnea (OSA) as well as central sleep breathing abnormalities that are present from infancy. AIM OF THE STUDY: Evaluate the prevalence and severity of SDB in infants with PRS using polysomnography (PSG)...
January 2017: Annals of Thoracic Medicine
https://www.readbyqxmd.com/read/28193305/tongue-lip-adhesion-and-tongue-repositioning-for-obstructive-sleep-apnoea-in-pierre-robin-sequence-a-systematic-review-and-meta-analysis
#20
REVIEW
M Camacho, M W Noller, S Zaghi, L K Reckley, C Fernandez-Salvador, E Ho, B Dunn, D K Chan
OBJECTIVE: To search for studies on tongue-lip adhesion and tongue repositioning used as isolated treatments for obstructive sleep apnoea in children with Pierre Robin sequence. METHODS: A systematic literature search of PubMed/Medline and three additional databases, from inception through to 8 July 2016, was performed by two authors. RESULTS: Seven studies with 90 patients (59 tongue-lip adhesion and 31 tongue repositioning patients) met the inclusion criteria...
May 2017: Journal of Laryngology and Otology
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