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Pierre Robin

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https://www.readbyqxmd.com/read/28612251/robin-n-kamal-arnold-peter-weiss-comprehensive-board-review-in-orthopaedic-thieme-2016-softcover-560-pp-89-65-%C3%A2-isbn-978-1-60406-904-4
#1
Pierre Kehr, Alain G Graftiaux
No abstract text is available yet for this article.
June 13, 2017: European Journal of Orthopaedic Surgery & Traumatology: Orthopédie Traumatologie
https://www.readbyqxmd.com/read/28601834/screening-for-cancer-in-patients-with-unprovoked-venous-thromboembolism-protocol-for-a-systematic-review-and-individual-patient-data-meta-analysis
#2
Nick van Es, Grégoire Le Gal, Hans-Martin Otten, Philippe Robin, Andrea Piccioli, Ramon Lécumberri, Luis Jara Palomares, Piotr Religa, Viriginie Rieu, Matthew T Rondina, Mariëlle M Beckers, Paolo Prandoni, Pierre-Yves Salaun, Marcello Di Nisio, Patrick M Bossuyt, Harry R Büller, Marc Carrier
INTRODUCTION: Occult cancer is present in 4%-9% of patients with unprovoked venous thromboembolism (VTE). Screening for cancer may be considered in these patients, with the aim to diagnose cancers in an early, potentially curable stage. Information is needed about the risk of occult cancer, overall and in specific subgroups, additional risk factors and on the performance of different screening strategies. METHODS AND ANALYSIS: MEDLINE, Embase and CENTRAL databases were searched from November 2007 to January 2016 for prospective studies that had evaluated protocol-mandated screening for cancer in patients with unprovoked VTE and with at least 12 months' follow-up...
June 10, 2017: BMJ Open
https://www.readbyqxmd.com/read/28600822/diagnostic-performance-of-18-fluorodesoxyglucose-positron-emission-computed-tomography-and-magnetic-resonance-imaging-in-detecting-t1-t2-head-and-neck-squamous-cell-carcinoma
#3
Anne Chaput, Philippe Robin, Fabien Podeur, Morgan Ollivier, Nathalie Keromnes, Valentin Tissot, Michel Nonent, Pierre-Yves Salaün, Jean Rousset, Ronan Abgral
OBJECTIVES/HYPOTHESIS: The aim of this study was to assess and compare the diagnostic accuracy of (18) fluorodesoxyglucose positron emission/computed tomography (FDG-PET/CT) and magnetic resonance imaging (MRI) to detect T1-T2 head and neck squamous cell carcinoma (HNSCC). STUDY DESIGN: Prospective case series. METHODS: Thirty-five consecutive patients with histologically proven T1-T2 HNSCC were prospectively included. All patients underwent pretherapeutic FDG-PET/CT and MRI...
June 10, 2017: Laryngoscope
https://www.readbyqxmd.com/read/28592305/incremental-diagnostic-utility-of-systematic-double-bed-spect-ct-for-bone-scintigraphy-in-initial-staging-of-cancer-patients
#4
Catherine Guezennec, Nathalie Keromnes, Philippe Robin, Ronan Abgral, David Bourhis, Solène Querellou, Romain de Laroche, Alexandra Le Duc-Pennec, Pierre-Yves Salaün, Pierre-Yves Le Roux
BACKGROUND: SPECT/CT has been shown to increase the diagnostic performance of bone scintigraphy for staging of malignancies. A systematic double-bed SPECT/CT of the trunk may allow further improvement. However, this would be balanced by higher dosimetry and longer acquisition time. The objective was to assess the incremental diagnostic utility of a systematic double-bed SPECT/CT acquisition for bone scintigraphy in initial staging of cancer patients, especially compared with the usual approach consisting in a whole body planar scan (WBS) plus one single-bed targeted SPECT/CT...
June 7, 2017: Cancer Imaging: the Official Publication of the International Cancer Imaging Society
https://www.readbyqxmd.com/read/28570648/performance-of-18f-fluorodesoxyglucose-positron-emission-tomography-combined-with-low-dose-computed-tomography-for-cancer-screening-in-patients-with-unprovoked-venous-thromboembolism
#5
Philippe Robin, Pierre-Yves Le Roux, Karine Lacut, Benjamin Planquette, Nathalie Prévot-Bitot, Christian Lavigne, Jean Pastre, Adel Merah, Grégoire Le Gal, Pierre-Yves Salaun
PURPOSE: Small series have suggested that Fluorodesoxyglucose Positron-Emission-Tomography with Computed-Tomography (FDG-PET/CT) is feasible to screen for cancer in patients with unprovoked venous thromboembolism (VTE), but without validation in a large population. The aim was to assess diagnostic accuracy indices of FDG-PET/CT for occult cancer diagnosis in patients with unprovoked VTE. MATERIALS AND METHODS: We analysed patients from the FDG-PET/CT group of a randomized trial that compared a screening strategy based on FDG-PET/CT with a limited screening strategy for occult malignancy detection in patients with unprovoked VTE...
2017: PloS One
https://www.readbyqxmd.com/read/28560574/eortc-pet-response-criteria-are-more-influenced-by-reconstruction-inconsistencies-than-percist-but-both-benefit-from-the-earl-harmonization-program
#6
Charline Lasnon, Elske Quak, Pierre-Yves Le Roux, Philippe Robin, Michael S Hofman, David Bourhis, Jason Callahan, David S Binns, Cédric Desmonts, Pierre-Yves Salaun, Rodney J Hicks, Nicolas Aide
BACKGROUND: This study evaluates the consistency of PET evaluation response criteria in solid tumours (PERCIST) and European Organisation for Research and Treatment of Cancer (EORTC) classification across different reconstruction algorithms and whether aligning standardized uptake values (SUVs) to the European Association of Nuclear Medicine acquisition (EANM)/EARL standards provides more consistent response classification. MATERIALS AND METHODS: Baseline (PET1) and response assessment (PET2) scans in 61 patients with non-small cell lung cancer were acquired in protocols compliant with the EANM guidelines and were reconstructed with point-spread function (PSF) or PSF + time-of-flight (TOF) reconstruction for optimal tumour detection and with a standardized ordered subset expectation maximization (OSEM) reconstruction known to fulfil EANM harmonizing standards...
December 2017: EJNMMI Physics
https://www.readbyqxmd.com/read/28557592/ameloblastic-fibro-odontoma-of-the-maxilla-in-a-pierre-robin-sequence-patient
#7
Kenneth Kufta, Steve Kang, Faizan Alawi, Anna Moran, Neeraj Panchal
INTRODUCTION: Pierre Robin sequence (PRS) is a rare disorder classically observed as a triad of features including micrognathia, glossoptosis, and upper airway obstruction. It is associated with a syndrome in about 60% of cases. While odontogenic tumors are common findings in patients with familial adenomatous polyposis and nevoid basal cell carcinoma syndromes, PRS has not been found to be consistently associated with any tumors of the jaw. CASE REPORT: The current report aims to describe a patient with PRS who presented with an extensive ameloblastic fibro-odontoma (AFO) of the maxilla...
May 30, 2017: Fetal and Pediatric Pathology
https://www.readbyqxmd.com/read/28553897/diagnostic-score-for-the-detection-of-cardiac-amyloidosis-in-patients-with-left-ventricular-hypertrophy-and-impact-on-prognosis
#8
Eve Cariou, Youssef Bennani Smires, Gérard Victor, Guillaume Robin, David Ribes, Pierre Pascal, Antoine Petermann, Pauline Fournier, Stanislas Faguer, Jérôme Roncalli, Hervé Rousseau, Dominique Chauveau, Didier Carrié, Isabelle Berry, Michel Galinier, Olivier Lairez
BACKGROUND: Among diagnosis associated with left ventricular hypertrophy (LVH), cardiac amyloidosis (CA) is a progressive disease with poor prognosis. Early noninvasive identification is of growing clinical importance. The objective of our study was to integrate clinical, biologic, electrocardiographic and echocardiographic parameters to build a diagnostic score in patients with LVH. METHODS AND RESULTS: One hundred and fourteen patients with LVH underwent a cardiac magnetic resonance (CMR) and a (99m)Tc-hydroxymethylene-diphosphonate scintigraphy ((99m)Tc-HMDP) allowing to discriminate three groups of diagnoses: CA (n = 50 including 31, 18 and 1 ATTR, AL and AA amyloidosis), hypertrophic cardiomyopathy (n = 19) and unspecific cardiomyopathy (n = 45)...
May 29, 2017: Amyloid: the International Journal of Experimental and Clinical Investigation
https://www.readbyqxmd.com/read/28538051/mobius-syndrome-a-35-year-single-institution-experience
#9
Philip K McClure, Eray Kilinc, Scott Oishi, Anthony I Riccio, Lori A Karol
BACKGROUND: Mobius syndrome is a rare syndrome that is known to be associated with a variety of orthopaedic conditions including scoliosis, clubfoot, transverse limb deficiencies, Poland syndrome, and a myriad of hand conditions. To date, no large series exist to characterize the orthopaedic manifestations of Mobius syndrome. METHODS: Medical records at a single tertiary pediatric institution were reviewed for all patients diagnosed with Mobius syndrome from January 1, 1980 to December 31, 2015...
May 19, 2017: Journal of Pediatric Orthopedics
https://www.readbyqxmd.com/read/28486224/long-term-neuropathological-changes-associated-with-cerebral-palsy-in-a-nonhuman-primate-model-of-hypoxic-ischemic-encephalopathy
#10
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
#11
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
#12
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
#13
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
#14
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
#15
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
#16
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
#17
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
#18
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...
June 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28418932/bmpr1b-mutation-causes-pierre-robin-sequence
#19
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
#20
Thomas Farge, Estelle Saland, Fabienne de Toni, Nesrine Aroua, Mohsen Hosseini, Robin Perry, Claudie Bosc, Mayumi Sugita, Lucille Stuani, Marine Fraisse, Sarah Scotland, Clément Larrue, Héléna Boutzen, Virginie Féliu, Marie-Laure Nicolau-Travers, Stéphanie Cassant-Sourdy, Nicolas Broin, Marion David, Nizar Serhan, Audrey Sarry, Suzanne Tavitian, Tony Kaoma, Laurent Vallar, Jason Iacovoni, Laetitia K Linares, Camille Montersino, Rémy Castellano, Emmanuel Griessinger, Yves Collette, Olivier Duchamp, Yara Barreira, Pierre Hirsch, Tony Palama, Lara Gales, François Delhommeau, Barbara H Garmy-Susini, Jean-Charles Portais, François 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 (LSC). To validate this hypothesis in vivo, we developed a clinically relevant chemotherapeutic approach treating patient-derived xenografts (PDX) with cytarabine (AraC). AraC residual AML cells are enriched in neither immature, quiescent cells nor LSCs. Strikingly, AraC-resistant preexisting 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
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