keyword
MENU ▼
Read by QxMD icon Read
search

Pierre Robin

keyword
https://www.readbyqxmd.com/read/28486224/long-term-neuropathological-changes-associated-with-cerebral-palsy-in-a-nonhuman-primate-model-of-hypoxic-ischemic-encephalopathy
#1
Ryan M McAdams, Bobbi Fleiss, Christopher Traudt, Leslie Schwendimann, Jessica M Snyder, Robin L Haynes, Niranjana Natarajan, Pierre Gressens, Sandra E Juul
BACKGROUND: Cerebral palsy (CP) is the most common motor disability in childhood, with a worldwide prevalence of 1.5-4/1,000 live births. Hypoxic-ischemic encephalopathy (HIE) contributes to the burden of CP, but the long-term neuropathological findings of this association remain limited. METHODOLOGY: Thirty-four term Macaca nemestrina macaques were included in this long-term neuropathological study: 9 control animals delivered by cesarean section and 25 animals with perinatal asphyxia delivered by cesarean section after 15-18 min of umbilical cord occlusion (UCO)...
May 10, 2017: Developmental Neuroscience
https://www.readbyqxmd.com/read/28473936/ischiospinal-dysostosis-in-a-child-with-pierre-robin-syndrome
#2
Mahmoud Almasri, Waleed Kishta, Fahad H Abduljabbar, Vincent Arlet, Neil Saran, Jean Oullet
Ischiospinal Dysostosis (ISD) is a complex and very rare medical entity. It is associated with kyphoscoliosis, dysplasia or aplasia of the ischial rami, segmental anomalies of the bony vertebrae, and peculiar facial morphologies. In this case report, we present a child with Ischiospinal Dysostosis and Pierre-Robin Syndrome. This case report is unique as we followed the patient for 13 years in which he had multiple spinal procedures to treat his kyphoscoliosis. In this paper, we elucidated the number of case reports with documented follow-up regarding spinal cord injury or other complications of ISD and its management...
2017: Case Reports in Orthopedics
https://www.readbyqxmd.com/read/28461624/loss-of-cardio-protective-effects-at-the-adamts7-locus-due-to-gene-smoking-interactions
#3
Danish Saleheen, Wei Zhao, Robin Young, Christopher P Nelson, Weang Kee Ho, Jane F Ferguson, Asif Rasheed, Kristy Ou, Sylvia T Nurnberg, Robert C Bauer, Anuj Goel, Ron Do, Alexandre F R Stewart, Jaana Hartiala, Weihua Zhang, Gudmar Thorleifsson, Rona J Strawbridge, Juha Sinisalo, Stavroula Kanoni, Sanaz Sedaghat, Eirini Marouli, Kati Kristiansson, Jing Hua Zhao, Robert Scott, Dominique Gauguier, Svati H Shah, Albert Vernon Smith, Natalie Van Zuydam, Amanda J Cox, Christina Willenborg, Thorsten Kessler, Lingyao Zeng, Michael A Province, Andrea Ganna, Lars Lind, Nancy L Pedersen, Charles C White, Anni Joensuu, Marcus Edi Kleber, Alistair S Hall, Winfried März, Veikko Salomaa, Christopher O'Donnell, Erik Ingelsson, Mary F Feitosa, Jeanette Erdmann, Donald W Bowden, Colin N A Palmer, Vilmundur Gudnason, Ulf de Faire, Pierre Zalloua, Nicholas Wareham, John R Thompson, Kari Kuulasmaa, George Dedoussis, Markus Perola, Abbas Dehghan, John C Chambers, Jaspal Kooner, Hooman Allayee, Panos Deloukas, Ruth McPherson, Kari Stefansson, Heribert Schunkert, Sekar Kathiresan, Martin Farrall, Philippe M Frossard, Daniel J Rader, Nilesh Samani, Muredach P Reilly
Background -Common diseases such as coronary heart disease (CHD) are complex in etiology. The interaction of genetic susceptibility with lifestyle factors may play a prominent role. However, gene-environment interactions for CHD have been difficult to identify. Here, we investigate interaction of smoking behavior, a potent lifestyle factor, with genotypes that have been shown to associate with CHD risk. Methods -We analyzed data on 60,919 CHD cases and 80,243 controls from 29 studies for gene-smoking interactions for genetic variants at 45 loci previously reported to associate with CHD risk...
May 1, 2017: Circulation
https://www.readbyqxmd.com/read/28460260/additional-testing-following-screening-strategies-for-occult-malignancy-diagnosis-in-patients-with-unprovoked-venous-thromboembolism
#4
Philippe Robin, Pierre-Yves Le Roux, Emmanuelle Le Moigne, Benjamin Planquette, Nathalie Prévot-Bitot, Pierre-Marie Roy, Jean Pastre, Adel Merah, Francis Couturaud, Grégoire Le Gal, Pierre-Yves Salaun
(18)F-Fluorodesoxyglucose Positron-Emission-Tomography combined with Computed-Tomography (FDG PET/CT) might be an attractive tool for cancer screening in patients with venous thromboembolism (VTE), allowing non-invasive whole-body imaging. One of the frequent criticisms to the use of FDG PET/CT for screening is the potential for false positive results leading to unnecessary/invasive investigations. Our aim was to compare the frequency and invasiveness of additional testing following extensive and limited screening strategies for occult malignancy in patients with unprovoked VTE...
April 25, 2017: Thrombosis Research
https://www.readbyqxmd.com/read/28449865/flexible-feeding-obturator-for-early-intervention-in-infants-with-pierre-robin-sequence
#5
Ruta Jadhav, Santosh Nelogi, Sounyala Rayannavar, Raghunath Patil
Pierre Robin sequence presents with distinct features of retrognathia and glossoptosis with or without cleft palate, which results in potentially serious, life-threatening respiratory obstruction and feeding complications. A multidisciplinary approach is required to manage such complex features. This article describes a novel technique for managing Pierre Robin sequence using a flexible feeding obturator. This custom-made intraoral appliance overcomes numerous problems associated with the available feeding obturators and helps infants and parents cope with a variety of difficulties...
April 25, 2017: Journal of Prosthetic Dentistry
https://www.readbyqxmd.com/read/28437266/gelfoam-interposition-minimizes-risk-of-fistula-and-postoperative-bleeding-in-modified-furlow-palatoplasty
#6
Jing Li, Patrick A Gerety, James Johnston, Jesse A Taylor
Failure to accomplish a tension-free, watertight closure predisposes the palatoplasty patient to fistula formation. Perioperative bleeding also places the patient at risk for adverse airway events (AAE). This study introduces the incorporation of a hemostatic gelatin sponge (Gelfoam) into layered palatoplasty to minimize adverse postoperative bleeding and fistula formation. A retrospective chart review was performed to identify subjects who underwent Furlow palatoplasty with insertion of Gelfoam from 2010 to 2015...
April 21, 2017: Journal of Craniofacial Surgery
https://www.readbyqxmd.com/read/28431879/improvement-of-herg-romk-index-of-spirocyclic-romk-inhibitors-through-scaffold-optimization-and-incorporation-of-novel-pharmacophores
#7
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
#8
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
#9
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
#10
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 18, 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
#11
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
#12
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
#13
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...
May 5, 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
#14
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...
May 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
#15
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-ib-dose-escalation-study-of-encorafenib-and-cetuximab-with-or-without-alpelisib-in-metastatic-braf-mutant-colorectal-cancer
#16
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 P 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 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 PI3Kα inhibitor (alpelisib). The primary objective was to determine the maximum tolerated dose (MTD) or a recommended phase II 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
#17
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
#18
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
#19
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
KEY POINTS: Our study contributes to the characterization of muscle loss and weakness processes induced by a sedentary life style, chronic hypoactivity, clinical bed rest, immobilization and microgravity. This study, by bringing together integrated and cellular evaluation of muscle structure and function, identifies the early functional markers and biomarkers of muscle deconditioning. Three days of muscle disuse in healthy adult subjects is sufficient to significantly decrease muscle mass, tone and force, and to induce changes in function relating to a weakness in aerobic metabolism and muscle fibre denervation...
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
#20
MULTICENTER STUDY
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
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
keyword
keyword
6172
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"