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Pierre Robin

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https://www.readbyqxmd.com/read/28928136/endothelial-epas1-deficiency-is-sufficient-to-promote-parietal-epithelial-cell-activation-and-fsgs-in-experimental-hypertension
#1
Yosu Luque, Olivia Lenoir, Philippe Bonnin, Lise Hardy, Anna Chipont, Sandrine Placier, Sophie Vandermeersch, Yi-Chun Xu-Dubois, Blaise Robin, Hélène Lazareth, Michèle Souyri, Léa Guyonnet, Véronique Baudrie, Eric Camerer, Eric Rondeau, Laurent Mesnard, Pierre-Louis Tharaux
FSGS, the most common primary glomerular disorder causing ESRD, is a complex disease that is only partially understood. Progressive sclerosis is a hallmark of FSGS, and genetic tracing studies have shown that parietal epithelial cells participate in the formation of sclerotic lesions. The loss of podocytes triggers a focal activation of parietal epithelial cells, which subsequently form cellular adhesions with the capillary tuft. However, in the absence of intrinsic podocyte alterations, the origin of the pathogenic signal that triggers parietal epithelial cell recruitment remains elusive...
September 19, 2017: Journal of the American Society of Nephrology: JASN
https://www.readbyqxmd.com/read/28919757/once-monthly-paliperidone-palmitate-in-early-stage-schizophrenia-a-retrospective-non-interventional-1-year-study-of-patients-with-newly-diagnosed-schizophrenia
#2
Robin Emsley, Ludger Hargarter, Paul Bergmans, Boran Uglešić, Abdullah Cem Sengül, Antonino Petralia, Angelina Khannanova, Pierre Cherubin, Andreas Schreiner
BACKGROUND: Long-acting antipsychotic therapy may be best suited for patients in the early stage of schizophrenia, when the most can be done before disease progression associated with poor adherence occurs. We explored the patterns of use of once-monthly paliperidone palmitate (PP1M), concomitant medication use, hospitalization, and clinical outcomes of adult, newly diagnosed patients with schizophrenia receiving continuous treatment with PP1M for at least 12 months. METHODS: This was an international, multicenter, exploratory, retrospective chart review of medical records of adult patients who were newly diagnosed (not more than 1 year before initiation of PP1M treatment) with schizophrenia and who had received continuous treatment with PP1M for ≥12 months in naturalistic clinical settings...
2017: Neuropsychiatric Disease and Treatment
https://www.readbyqxmd.com/read/28913338/clinical-validation-of-a-pixon-based-reconstruction-method-allowing-a-twofold-reduction-in-planar-images-time-of-111in-pentetreotide-somatostatin-receptor-scintigraphy
#3
Philippe Thuillier, David Bourhis, Philippe Robin, Nathalie Keromnes, Ulrike Schick, Pierre-Yves Le Roux, Véronique Kerlan, Philippe Chaumet-Riffaud, Pierre-Yves Salaün, Ronan Abgral
OBJECTIVE: The objective of this study was to evaluate the diagnostic efficacy of Pixon-based reconstruction method on planar somatostatin receptor scintigraphy (SRS). METHODS: All patients with neuroendocrine tumors (NETs) disease who were referred for SRS to our department during 1-year period from January to December 2015 were consecutively included. Three nuclear physicians independently reviewed all the data sets of images which included conventional images (CI; 15 min/view) and processed images (PI) obtained by reconstructing the first 450 s extracted data using Oncoflash(®) software package...
2017: Frontiers in Medicine
https://www.readbyqxmd.com/read/28911987/aortitis-in-giant-cell-arteritis-diagnosis-with-fdg-pet-ct-and-agreement-with-ct-angiography
#4
REVIEW
Mona Hommada, Arsène Mekinian, Pierre-Yves Brillet, Sébastien Abad, Claire Larroche, Robin Dhôte, Olivier Fain, Michael Soussan
OBJECTIVES: To assess the detection rate of aortitis in giant cell arteritis (GCA) with fluorodeoxyglucose positron emission tomography/computed tomography (PET) and to compare the findings with CT angiography (CTA). METHODS: Fifty-two GCA patients and 27 controls were included. GCA patients had a PET scan at diagnosis (35/52) or during relapse (17/52). Concomitant CTA was performed in 35/52 patients. Aortitis was defined as FDG uptake higher than the liver for PET and wall thickness≥3mm for CTA...
September 11, 2017: Autoimmunity Reviews
https://www.readbyqxmd.com/read/28905878/detecting-splicing-patterns-in-genes-involved-in-hereditary-breast-and-ovarian-cancer
#5
Grégoire Davy, Antoine Rousselin, Nicolas Goardon, Laurent Castéra, Valentin Harter, Angelina Legros, Etienne Muller, Robin Fouillet, Baptiste Brault, Anna S Smirnova, Fréderic Lemoine, Pierre de la Grange, Marine Guillaud-Bataille, Virginie Caux-Moncoutier, Claude Houdayer, Françoise Bonnet, Cécile Blanc-Fournier, Pascaline Gaildrat, Thierry Frebourg, Alexandra Martins, Dominique Vaur, Sophie Krieger
Interpretation of variants of unknown significance (VUS) is a major challenge for laboratories performing molecular diagnosis of hereditary breast and ovarian cancer (HBOC), especially considering that many genes are now known to be involved in this syndrome. One important way these VUS can have a functional impact is through their effects on RNA splicing. Here we present a custom RNA-Seq assay plus bioinformatics and biostatistics pipeline to analyse specifically alternative and abnormal splicing junctions in 11 targeted HBOC genes...
October 2017: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/28875565/predicting-the-risk-of-cancer-after-unprovoked-venous-thromboembolism-external-validation-of-the-riete-score
#6
Laurent Bertoletti, Philippe Robin, Luis Jara-Palomare, Cécile Tromeur, Jean Pastre, Nathalie Prevot-Bitot, Thomas Mouneh, Grégoire Le Gal, Pierre-Yves Salaun
BACKGROUND: Most recent trials evaluating extensive screening strategies for occult cancer in patients with unprovoked venous thromboembolism failed, among other explanations because of an overall low rate of occult cancer. The RIETE investigators recently proposed a score aiming to identify a sub-group at higher risk. METHODS: We retrospectively computed the RIETE score for all patients included in the MVTEP study, which evaluated the accuracy of FDG-PET in the screening of occult cancer in patients with unprovoked venous thromboembolism...
September 6, 2017: Journal of Thrombosis and Haemostasis: JTH
https://www.readbyqxmd.com/read/28870768/sponge-like-microparticles-for-drug-delivery-and-cosmeto-textile-use-formulation-and-human-skin-penetration
#7
Nadiah Zafar, Sophie Robin, Céline Viennet, Philippe Humbert, Jean Pierre Valour, Geraldine Agusti, Hatem Fessi, Abdelhamid Elaissari
This unique work is targeted to achieve three main goals: i) to enhance the aqueous solubility of three specifically selected hydrophobic active agents, ii) to prepare such polymeric biodegradable microparticles which can encapsulate actives-cyclodextrin complexes and iii) to functionalize a polyamide base textile with active loaded microparticles and active-cyclodextrin loaded microparticles. To achieve this objective, biodegradable cationic microparticles were prepared via double emulsion solvent evaporation process and were loaded with hydroxypropyl-beta-cyclodextrin based complexes of Indomethacin, α-tocopheroland Lauryl Isoquinolinium Bromide during the formulation process...
September 1, 2017: International Journal of Pharmaceutics
https://www.readbyqxmd.com/read/28868791/predicting-hemispheric-dominance-for-language-production-in-healthy-individuals-using-support-vector-machine
#8
Laure Zago, Pierre-Yves Hervé, Robin Genuer, Alexandre Laurent, Bernard Mazoyer, Nathalie Tzourio-Mazoyer, Marc Joliot
We used a Support Vector Machine (SVM) classifier to assess hemispheric pattern of language dominance of 47 individuals categorized as non-typical for language from their hemispheric functional laterality index (HFLI) measured on a sentence minus word-list production fMRI-BOLD contrast map. The SVM classifier was trained at discriminating between Dominant and Non-Dominant hemispheric language production activation pattern on a group of 250 participants previously identified as Typicals (HFLI strongly leftward)...
September 3, 2017: Human Brain Mapping
https://www.readbyqxmd.com/read/28860275/14-3-3-regulation-of-ncd-reveals-a-new-mechanism-for-targeting-proteins-to-the-spindle-in-oocytes
#9
Robin Beaven, Ricardo Nunes Bastos, Christos Spanos, Pierre Romé, C Fiona Cullen, Juri Rappsilber, Régis Giet, Gohta Goshima, Hiroyuki Ohkura
The meiotic spindle is formed without centrosomes in a large volume of oocytes. Local activation of crucial spindle proteins around chromosomes is important for formation and maintenance of a bipolar spindle in oocytes. We found that phosphodocking 14-3-3 proteins stabilize spindle bipolarity in Drosophila melanogaster oocytes. A critical 14-3-3 target is the minus end-directed motor Ncd (human HSET; kinesin-14), which has well-documented roles in stabilizing a bipolar spindle in oocytes. Phospho docking by 14-3-3 inhibits the microtubule binding activity of the nonmotor Ncd tail...
August 31, 2017: Journal of Cell Biology
https://www.readbyqxmd.com/read/28844091/two-sampling-strategies-for-an-overview-of-pesticide-contamination-in-an-agriculture-extensive-headwater-stream
#10
Robin Guibal, Sophie Lissalde, Julie Leblanc, Karine Cleries, Adeline Charriau, Gaëlle Poulier, Nicolas Mazzella, Jean-Pierre Rebillard, Yoann Brizard, Gilles Guibaud
Two headwaters located in southwest France were monitored for 3 and 2 years (Auvézère and Aixette watershed, respectively) with two sampling strategies: grab and passive sampling with polar organic chemical integrative sampler (POCIS). These watersheds are rural and characterized by agricultural areas with similar breeding practices, except that the Auvézère watershed contains apple production for agricultural diversification and the downstream portion of the Aixette watershed is in a peri-urban area. The agricultural activities of both are extensive, i...
August 26, 2017: Environmental Science and Pollution Research International
https://www.readbyqxmd.com/read/28828492/screening-for-occult-cancer-in-patients-with-unprovoked-venous-thromboembolism-a-systematic-review-and-meta-analysis-of-individual-patient-data
#11
Nick van Es, Grégoire Le Gal, Hans-Martin Otten, Philippe Robin, Andrea Piccioli, Ramón Lecumberri, Luis Jara-Palomares, Piotr Religa, Virginie Rieu, Matthew Rondina, Mariëlle M Beckers, Paolo Prandoni, Pierre-Yves Salaun, Marcello Di Nisio, Patrick M Bossuyt, Harry R Büller, Marc Carrier
Background: Screening for cancer in patients with unprovoked venous thromboembolism (VTE) often is considered, but clinicians need precise data on cancer prevalence, risk factors, and the effect of different types of screening strategies. Purpose: To estimate the prevalence of occult cancer in patients with unprovoked VTE, including in subgroups of different ages or those that have had different types of screening. Data Sources: MEDLINE, EMBASE, and the Cochrane Central Register of Controlled Trials up to 19 January 2016...
September 19, 2017: Annals of Internal Medicine
https://www.readbyqxmd.com/read/28826759/condylar-positions-before-and-after-bilateral-mandibular-distraction-osteogenesis-in-children-with-pierre-robin-sequence
#12
J Liu, Y Chen, F Li, W Wu, J Hao, D Luo, H Wang
This study aimed to analyze the changes in mandibular morphology after bilateral mandibular distraction osteogenesis (BMDO) in children with Pierre Robin sequence. The positions of the condyles were analyzed in reconstructed three-dimensional craniomaxillofacial images obtained for 18 children before and 8-12 weeks after BMDO. Differences between pre- and postoperative parameters were assessed using paired t-tests. After surgery, a significant decrease in superior joint space was detected (P<0.05), but no change in anterior joint space or posterior joint space was observed...
August 18, 2017: International Journal of Oral and Maxillofacial Surgery
https://www.readbyqxmd.com/read/28822675/precise-osteotomies-for-mandibular-distraction-in-infants-with-robin-sequence-using-virtual-surgical-planning
#13
C M Resnick
Mandibular distraction osteogenesis (MDO) has become the first-line operation in many centers for the management of obstructive sleep apnea (OSA) in infants with (Pierre) Robin sequence (RS) not relieved by non-surgical approaches. Preoperative virtual surgical planning (VSP) may improve precision and decrease complications for this operation. This article reports a retrospective study of RS infants who underwent MDO for OSA using preoperative VSP and three-dimensionally printed cutting guides performed by one surgeon...
August 16, 2017: International Journal of Oral and Maxillofacial Surgery
https://www.readbyqxmd.com/read/28802380/can-telemetry-data-obviate-the-need-for-sleep-studies-in-pierre-robin-sequence
#14
Nicole Leigh Aaronson, Noel Jabbour
OBJECTIVE: This study looks to correlate telemetry data gathered on patients with Pierre Robin Sequence (PRS) with sleep study data. Strong correlation might allow obstructive sleep apnea (OSA) to be reasonably predicted without the need for sleep study. METHODS: Charts from forty-six infants with PRS who presented to our children's hospital between 2005 and 2015 and received a polysomnogram (PSG) prior to surgical intervention were retrospectively reviewed. Correlations and scatterplots were used to compare average daily oxygen nadir, overall oxygen nadir, and average number of daily desaturations from telemetry data with apnea-hypopnea index (AHI) and oxygen nadir on sleep study...
September 2017: International Journal of Pediatric Otorhinolaryngology
https://www.readbyqxmd.com/read/28790548/a-giant-heart-tumor-in-neonate-with-clinical-signs-of-pierre-robin-syndrome
#15
Ramush Bejiqi, Ragip Retkoceri, Hana Xhema-Bejiqi, Rinor Bejiqi, Arlinda Maloku
INTRODUCTION: Pierre Robin syndrome is a congenital condition of facial abnormalities in humans. The three main features are: cleft palate, retrognathia and glossoptosis. Rarely heart tumors are associated with syndromes, mostly are isolated. CASE REPORT: In this presentation we describe a 3-weeks-old girl with Pierre-Robin syndrome and giant left ventricle tumor, diagnosed initially by transthoracic echocardiography. The purpose of this report is to review the literature on the fetuses and neonates with cardiac tumors in an attempt to determine the various ways which cardiac tumors differ clinically and morphologically in this age group...
April 2017: Medical Archives
https://www.readbyqxmd.com/read/28775045/prevalence-and-incidence-of-interstitial-lung-diseases-in-a-multi-ethnic-county-of-greater-paris
#16
Boris Duchemann, Isabella Annesi-Maesano, Camille Jacobe de Naurois, Shreosi Sanyal, Pierre-Yves Brillet, Michel Brauner, Marianne Kambouchner, Sophie Huynh, Jean Marc Naccache, Raphael Borie, Jacques Piquet, Arsène Mekinian, Jerôme Virally, Yurdagul Uzunhan, Jacques Cadranel, Bruno Crestani, Olivier Fain, Francois Lhote, Robin Dhote, Nathalie Saidenberg-Kermanac'h, Paul-André Rosental, Dominique Valeyre, Hilario Nunes
The objective of the study was to estimate the prevalence and incidence of interstitial lung diseases (ILDs) in Seine-Saint-Denis, a multi-ethnic county of Greater Paris, France.Patients with ILDs were identified between January and December 2012 by using several sources; all potentially involved medical specialists from public and private hospitals, community-based pulmonologists and general practitioners, and the Social Security system. Diagnoses were validated centrally by an expert multidisciplinary discussion...
August 2017: European Respiratory Journal: Official Journal of the European Society for Clinical Respiratory Physiology
https://www.readbyqxmd.com/read/28727807/digoxin-reveals-a-functional-connection-between-hiv-1-integration-preference-and-t-cell-activation
#17
Alexander Zhyvoloup, Anat Melamed, Ian Anderson, Delphine Planas, Chen-Hsuin Lee, Janos Kriston-Vizi, Robin Ketteler, Andy Merritt, Jean-Pierre Routy, Petronela Ancuta, Charles R M Bangham, Ariberto Fassati
HIV-1 integrates more frequently into transcribed genes, however the biological significance of HIV-1 integration targeting has remained elusive. Using a selective high-throughput chemical screen, we discovered that the cardiac glycoside digoxin inhibits wild-type HIV-1 infection more potently than HIV-1 bearing a single point mutation (N74D) in the capsid protein. We confirmed that digoxin repressed viral gene expression by targeting the cellular Na+/K+ ATPase, but this did not explain its selectivity. Parallel RNAseq and integration mapping in infected cells demonstrated that digoxin inhibited expression of genes involved in T-cell activation and cell metabolism...
July 2017: PLoS Pathogens
https://www.readbyqxmd.com/read/28713745/recovering-breathing-and-feeding-of-a-newborn-with-pierre-robin-sequence
#18
Francisnele Maria de Aquino Fraporti Tomáz, Alvaro Henrique Borges, Alexandre Meireles Borba, Luiz Evaristo Ricci Volpato
Pierre Robin sequence (PRS) is characterized by the triad micrognathia, glossoptosis, and airway obstruction, commonly associated with cleft palate. This study reports the case of a patient with characteristics consistent with the diagnosis of PRS in the 1(st) week of life. To stabilize the airway, oro-tracheal intubation was performed without success, followed by tracheostomy and glossopexy and after a small improvement in symptoms, it was decided to perform the mandibular distraction osteogenesis (MDO). At the age of 6, her maxillofacial development was within expectations, with patent airway, the presence of deciduous teeth, and without neurological impairment...
January 2017: Annals of Maxillofacial Surgery
https://www.readbyqxmd.com/read/28713498/identical-twins-with-pierre-robin-syndrome-unusual-encounter
#19
Nabil Shdaifat, Zaid Al-Zoubi, Hazem Khraisat, Rana Al-Omor, Khaled Matar
New born babies could suffer from multiple craniofacial abnormalities, such as Pierre Robin syndrome, which consists of micrognathia and relative macroglossia with or without cleft palate. Although Pierre Robin syndrome is well described in literature, only a few have mentioned its occurrence in identical twins. This paper presents a rare incident of full-term twin babies born with the sequence of Pierre Robin syndrome, which consists of micrognathia, cleft palate, and glossoptosis. Although it is a rare coincidence, Pierre Robin syndrome still can occur in identical twin babies...
May 2017: Electronic Physician
https://www.readbyqxmd.com/read/28708149/photonic-jet-key-role-of-injection-for-etchings-with-a-shaped-optical-fiber-tip
#20
Robin Pierron, Julien Zelgowski, Pierre Pfeiffer, Joël Fontaine, Sylvain Lecler
We demonstrate the key role of the laser injection into a multimode fiber to obtain a photonic jet (PJ). PJ, a high concentrated propagating beam with a full width at half-maximum smaller than the diffraction limit, is here generated with a shaped optical fiber tip using a pulsed laser source (1064 nm, 100 ns, 35 kHz). Three optical injection systems of light are compared. For similar etched marks on silicon with diameters around 1 μm, we show that the required ablation energy is minimum when the injected light beam is close to the fundamental mode diameter of the fiber...
July 15, 2017: Optics Letters
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