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https://www.readbyqxmd.com/read/29345414/molecular-characterization-of-a-series-of-990-index-patients-with-albinism
#1
E Lasseaux, C Plaisant, V Michaud, P Pennamen, A Trimouille, L Gaston, S Monfermé, D Lacombe, C Rooryck, F Morice-Picard, B Arveiler
Albinism is a clinically and genetically heterogeneous disease characterized by variable degrees of hypopigmentation and by nystagmus, foveal hypoplasia, and chiasmatic misrouting of the optic nerves. The wide phenotypic heterogeneity impedes the establishment of phenotype-genotype correlations. In order to obtain a precise diagnosis we screened the 19 known albinism genes in 990 index patients using targeted next generation sequencing (NGS) and high resolution comparative genomic hybridization. A molecular diagnosis was obtained in 72...
January 18, 2018: Pigment Cell & Melanoma Research
https://www.readbyqxmd.com/read/29339091/an-energetic-view-of-stress-focus-on-mitochondria
#2
REVIEW
Martin Picard, Bruce S McEwen, Elissa Epel, Carmen Sandi
Energy is required to sustain life and enable stress adaptation. At the cellular level, energy is largely derived from mitochondria - unique multifunctional organelles with their own genome. Four main elements connect mitochondria to stress: 1) Energy is required at the molecular, (epi)genetic, cellular, organ, and systemic levels to sustain components of stress responses; 2) Glucocorticoids and other steroid hormones are produced and metabolized by mitochondria; 3) Reciprocally, mitochondria functionally respond to neuroendocrine and metabolic stress mediators; and 4) Experimentally manipulating mitochondrial functions alters physiological and behavioral responses to psychological stress...
January 12, 2018: Frontiers in Neuroendocrinology
https://www.readbyqxmd.com/read/29332303/mitochondrial-dna-nuclear-context-and-the-risk-for-carcinogenesis
#3
REVIEW
Brett A Kaufman, Martin Picard, Neal Sondheimer
The inheritance of mitochondrial DNA (mtDNA) from mother to child is complicated by differences in the stability of the mitochondrial genome. Although the germ line mtDNA is protected through the minimization of replication between generations, sequence variation can occur either through mutation or due to changes in the ratio between distinct genomes that are present in the mother (known as heteroplasmy). Thus, the unpredictability in transgenerational inheritance of mtDNA may cause the emergence of pathogenic mitochondrial and cellular phenotypes in offspring...
January 14, 2018: Environmental and Molecular Mutagenesis
https://www.readbyqxmd.com/read/29330115/pediatric-onset-evans-syndrome-heterogeneous-presentation-and-high-frequency-of-monogenic-disorders-including-lrba-and-ctla4-mutations
#4
Caroline Besnard, Eva Levy, Nathalie Aladjidi, Marie-Claude Stolzenberg, Aude Magerus-Chatinet, Olivier Alibeu, Patrick Nitschke, Stéphane Blanche, Olivier Hermine, Eric Jeziorski, Judith Landman-Parker, Guy Leverger, Nizar Mahlaoui, Gérard Michel, Isabelle Pellier, Felipe Suarez, Isabelle Thuret, Geneviève de Saint-Basile, Capucine Picard, Alain Fischer, Bénédicte Neven, Frédéric Rieux-Laucat, Pierre Quartier
Evans syndrome (ES) is defined by the combination of autoimmune hemolytic anemia and immune thrombocytopenia. Clinical presentation includes manifestations of immune dysregulation, found in primary immune deficiencies, autoimmune lymphoproliferative syndrome with FAS (ALPS-FAS), Cytotoxic T Lymphocyte Antigen-4 (CTLA-4) and Lipopolysaccharide-Responsive vesicle trafficking Beige-like and Anchor protein (LRBA) defects. We report the clinical history and genetic results of 18 children with ES after excluding ALPS-FAS...
January 9, 2018: Clinical Immunology: the Official Journal of the Clinical Immunology Society
https://www.readbyqxmd.com/read/29325744/dextran-hydrogels-by-crosslinking-with-amino-acid-diamines-and-their-viscoelastic-properties
#5
Naphtali A O'Connor, Mihaela Jitianu, Greisly Nunez, Quentin Picard, Madeline Wong, David Akpatsu, Adam Negrin, Rajendra Gharbaran, Daniel Lugo, Sundus Shaker, Andrei Jitanu, Stephen Redenti
Amine functionalized polysaccharide hydrogels such as those based on chitosan are widely examined as biomaterials. Here we set out to develop a facile procedure for developing such hydrogels by crosslinking dextran with amino acid diamines. The dextran-amino acid gels were formed by the addition of the amino acid diamines to a dextran and epichlorohydrin solution once it became homogeneous. This was demonstrated with three amino acid diamines, lysine, lysine methyl ester, and cystine dimethyl ester. Hydrogel networks with albumin entrapped were also demonstrated...
January 8, 2018: International Journal of Biological Macromolecules
https://www.readbyqxmd.com/read/29319327/warfarin-dose-adjustment-after-biliopancreatic-diversion-duodenal-switch-bariatric-surgery
#6
Catherine Bolduc, Joëlle Flamand-Villeneuve, Isabelle Giroux, Stéfane Lebel, Serge Simard, Frédéric Picard
BACKGROUND: The absorption of drugs and fat-soluble vitamins is impaired after bariatric surgery on which intestinal length and function are altered. In this context, the anticoagulant effect of warfarin is difficult to predict in the postoperative period. OBJECTIVE: This study aimed at describing the average weekly warfarin dose required to maintain a therapeutic international normalized ratio (INR) before and up to 1 year after sleeve gastrectomy with biliopancreatic diversion and duodenal switch (BPD/DS)...
January 1, 2018: Annals of Pharmacotherapy
https://www.readbyqxmd.com/read/29317143/predictors-of-speech-outcomes-in-children-with-pierre-robin-sequence
#7
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/29314428/mosaic-nrasopathy-n-a-child-with-giant-melanocytic-congenital-naevus-epidermal-hamartoma-and-bilateral-nephroblastomatosis-clinical-implication-for-follow-up
#8
C Maridet, F Morice-Picard, A Gros, L Crivelli, A de la Fouchardière, B Vergier, A Taïeb
Various nevoid proliferations result from postzygotic mutation in genes within the RAF/RAS/MAPK pathway, supporting the term "mosaic RASopathy"(1). Giant congenital melanocytic naevus (GCMN) and neurocutaneous melanosis are rare mosaic RASopathies mainly known to be at risk for the development of melanoma and skeletal anomalies are variably recorded (2,3). This article is protected by copyright. All rights reserved.
January 5, 2018: Journal of the European Academy of Dermatology and Venereology: JEADV
https://www.readbyqxmd.com/read/29311077/posaconazole-tablets-in-real-life-lung-transplantation-impact-on-exposure-drug-drug-interactions-and-drug-management-in-lung-transplanted-patients-including-cystic-fibrosis
#9
Manon Launay, Antoine Roux, Laurence Beaumont, Benoit Douvry, Lucien Lecuyer, Emmanuel Douez, Clément Picard, Dominique Grenet, Vincent Jullien, Véronique Boussaud, Romain Guillemain, Eliane M Billaud
Appropriate exposure to Posaconazole (PSZ) was limited since the recent approval of the delayed release oral tablet formulation. Our goal was to determine the exposure obtained by using the standard dose of 300mgx1 in lung transplant patients (LT) including cystic fibrosis (CF) background.PSZ trough concentrations (C0) were determined using LCMS assay. Indicative thresholds of interest were <0.7mg/L (prophylaxis) and 1-3mg/L (curative). Tacrolimus (TRL) and everolimus (ERL) C0 measured during PSZ exposure were collected...
January 8, 2018: Antimicrobial Agents and Chemotherapy
https://www.readbyqxmd.com/read/29310866/initial-clinical-presentation-of-young-children-with-n-methyl-d-aspartate-receptor-encephalitis
#10
Marion Favier, Bastien Joubert, Géraldine Picard, Véronique Rogemond, Laure Thomas, Sylvain Rheims, Marion Bailhache, Frédéric Villega, Jean-Michel Pédespan, Giulia Berzero, Dimitri Psimaras, Jean-Christophe Antoine, Virginie Desestret, Jérôme Honnorat
Autoimmune encephalitis with anti-N-methyl-d-aspartate receptor autoantibodies (NMDA-R-Abs) is a recently described disease affecting adult and pediatric patients. Symptoms of the disease are now perfectly described in the adult population but the clinical presentation is less known in young children. The aim of the present study was to describe the clinical presentation and the specificities of symptoms presented by young children with NMDA-R-Abs encephalitis to improve diagnosis of this disease, and to compare these to a series of previously published female adult patients...
December 28, 2017: European Journal of Paediatric Neurology: EJPN
https://www.readbyqxmd.com/read/29306402/complex-hla-association-in-paraneoplastic-cerebellar-ataxia-with-anti-yo-antibodies
#11
Ryan P Hillary, Hanna M Ollila, Ling Lin, Virginie Desestret, Veronique Rogemond, Geraldine Picard, Mathilde Small, Isabelle Arnulf, Yves Dauvillers, Jerome Honnorat, Emmanuel Mignot
Anti-Yo paraneoplastic cerebellar degeneration (PCD) is a devastating autoimmune complication of gynecological cancers. We hypothesized that as for other autoimmune diseases, specific HLA haplotypes are associated. We conducted high resolution HLA typing of Class I/Class II in 40 cases versus ethnically matched controls. Three cases with anti-Yo antibodies and peripheral neuropathy were also included. We detected protective effects of DPA1*01:03~DPB1*04:01 (OR=0, p=0.0008), DRB1*04:01~DQA1*03:03(OR=0, p=0.0016) and DPA1*01:03~DPB1*04:01 (OR=0...
February 15, 2018: Journal of Neuroimmunology
https://www.readbyqxmd.com/read/29306362/jase-3-0-entering-our-4th-decade
#12
EDITORIAL
Michael H Picard
No abstract text is available yet for this article.
January 2018: Journal of the American Society of Echocardiography
https://www.readbyqxmd.com/read/29301676/severe-macroglossia-after-posterior-fossa-and-craniofacial-surgery-in-children
#13
J Bouaoud, A Joly, A Picard, B Thierry, E Arnaud, S James, I Hennessy, B McGarvey, P Cairet, A Vecchione, E Vergnaud, C Duracher, R H Khonsari
Massive swelling of the tongue can occur after posterior fossa and craniofacial surgery. Several hypotheses have been proposed to explain the occurrence of such severe postoperative macroglossia, but this phenomenon is still poorly understood. Severe postoperative macroglossia can be a life-threatening condition due to upper airway obstruction. Three cases of severe postoperative macroglossia that occurred after cervical spine, craniofacial, and posterior fossa surgical procedures are reported here. These cases required specialized maxillofacial management and a prolonged stay in the intensive care unit...
January 1, 2018: International Journal of Oral and Maxillofacial Surgery
https://www.readbyqxmd.com/read/29299667/genetic-alterations-and-tumor-immune-attack-in-yo-paraneoplastic-cerebellar-degeneration
#14
Mathilde Small, Isabelle Treilleux, Coline Couillault, Daniel Pissaloux, Géraldine Picard, Sandrine Paindavoine, Valery Attignon, Qing Wang, Véronique Rogemond, Stéphanie Lay, Isabelle Ray-Coquard, Jacobus Pfisterer, Florence Joly, Andreas Du Bois, Dimitri Psimaras, Nathalie Bendriss-Vermare, Christophe Caux, Bertrand Dubois, Jérôme Honnorat, Virginie Desestret
Paraneoplastic cerebellar degenerations with anti-Yo antibodies (Yo-PCD) are rare syndromes caused by an auto-immune response against neuronal antigens (Ags) expressed by tumor cells. However, the mechanisms responsible for such immune tolerance breakdown are unknown. We characterized 26 ovarian carcinomas associated with Yo-PCD for their tumor immune contexture and genetic status of the 2 onconeural Yo-Ags, CDR2 and CDR2L. Yo-PCD tumors differed from the 116 control tumors by more abundant T and B cells infiltration occasionally organized in tertiary lymphoid structures harboring CDR2L protein deposits...
January 3, 2018: Acta Neuropathologica
https://www.readbyqxmd.com/read/29282224/loss-of-rasgrp1-in-humans-impairs-t-cell-expansion-leading-to-epstein-barr-virus-susceptibility
#15
Sarah Winter, Emmanuel Martin, David Boutboul, Christelle Lenoir, Sabah Boudjemaa, Arnaud Petit, Capucine Picard, Alain Fischer, Guy Leverger, Sylvain Latour
Inherited CTPS1, CD27, and CD70 deficiencies in humans have revealed key factors of T-lymphocyte expansion, a critical prerequisite for an efficient immunity to Epstein-Barr virus (EBV) infection. RASGRP1 is a T-lymphocyte-specific nucleotide exchange factor known to activate the pathway of MAP kinases (MAPK). A deleterious homozygous mutation in RASGRP1 leading to the loss RASGRP1 expression was identified in two siblings who both developed a persistent EBV infection leading to Hodgkin lymphoma. RASGRP1-deficient T cells exhibited defective MAPK activation and impaired proliferation that was restored by expression of wild-type RASGRP1...
December 27, 2017: EMBO Molecular Medicine
https://www.readbyqxmd.com/read/29282011/common-variants-in-glucuronidation-enzymes-and-membrane-transporters-as-potential-risk-factors-for-colorectal-cancer-a-case-control-study
#16
Sabrina Falkowski, Jean-Baptiste Woillard, Deborah Postil, Nicole Tubiana-Mathieu, Eric Terrebonne, Antoine Pariente, Denis Smith, Rosine Guimbaud, Claire Thalamas, Koukeb Rouguieg-Malki, Pierre Marquet, Nicolas Picard
BACKGROUND: Associations between polymorphisms of UDP-glucuronosyltransferases (UGTs) or efflux transporters (e.g., P-glycoprotein and MRP2) and different types of cancer have been described, whereas the role of influx transporters (e.g. OATP1B1 and OATP2B1) has been seldom explored. The GenColon study investigated potential associations between variant alleles of UGTs, efflux and influx transporters and CRC. METHODS: Three hundred CRC cases were matched with 300 controls for age, sex and enrolment site...
December 28, 2017: BMC Cancer
https://www.readbyqxmd.com/read/29277436/-the-key-role-of-the-pathologist-in-the-diagnosis-of-syphilis-a-case-report
#17
Cécile Picard, Juliette Fontaine, Brigitte Chouvet, Brigitte Balme, Alexandra Traverse-Glehen
Syphilis is a resurging sexually transmitted infection linked to Treponema Pallidum. Syphilitic lymphadenitis can be present during the 3 stages of the disease. Its histological diagnosis remains challenging for the pathologist given its possible misleading aspect and its ability to mimic as well as reactional as tumoral conditions. We report the case of an HIV-infected young patient referred for suspicion of an aggressive lymphoma. Histological and immunohistochemical analysis of cervical lymphadenopathy revealed secondary syphilis...
December 22, 2017: Annales de Pathologie
https://www.readbyqxmd.com/read/29275074/melanotic-neuroectodermal-tumor-of-infancy-mnti-of-the-head-and-neck-a-french-multicenter-study
#18
Audrey Moreau, Louise Galmiche, Veronique Minard-Colin, Martin Rachwalski, Kahina Belhous, Daniel Orbach, Aline Joly, Arnaud Picard, Natacha Kadlub
OBJECTIVES: Melanotic neuroectodermal tumor of infancy (MNTI) of the head and neck is a rare entity with uncertain clinical behavior. Radical surgical resection is the current recommended treatment, however this can cause severe aesthetic and functional sequelae. The aim of this study was to clinically characterize MNTIs and to stratify risk factors that may influence locoregional recurrence. METHODS: A retrospective multicenter study, including 11 patients from eight centers with a confirmed diagnosis of MNTI, was conducted...
December 12, 2017: Journal of Cranio-maxillo-facial Surgery
https://www.readbyqxmd.com/read/29275073/orbital-volume-and-shape-in-treacher-collins-syndrome
#19
Julie Levasseur, Johan Nysjö, Ronak Sandy, Jonathan A Britto, Nicolas Garcelon, Samer Haber, Arnaud Picard, Pierre Corre, Guillaume A Odri, Roman H Khonsari
Orbito-palpebral reconstruction is a challenge in Treacher Collins syndrome (TCS). This study investigates orbital phenotypes in TCS using cephalometry and orbital shape analysis. Eighteen TCS and 52 control patients were included in this study, using the Dr Warehouse database. Orbital cephalometry was based on 20 landmarks, 10 planes, 16 angles, and 22 distances. Orbits were segmented. Registration-based, age-specific mean models were generated using semi-automatic segmentation, and aligned and compared using color-coded distance maps - mean absolute distance (MAD), Hausdorff distance (HD), and Dice similarity coefficient (DSC)...
December 8, 2017: Journal of Cranio-maxillo-facial Surgery
https://www.readbyqxmd.com/read/29274808/usefulness-of-individual-shear-rate-therapy-new-treatment-option-for-patients-with-symptomatic-coronary-artery-disease
#20
Frauke Picard, Petroula Panagiotidou, Ana Wolf-Pütz, Ivo Buschmann, Eva Buschmann, Maximilian Steffen, Rolf Michael Klein
The aim of this study was to elucidate if patients with coronary artery disease (CAD), who fail to respond to revascularization procedures, can improve from individual shear rate therapy (ISRT). The ISRT is an adaptation of the external counterpulsation with lower individual treatment pressures based on Doppler-ultrasound measurements during counterpulsation. In contrast to the external counterpulsation therapy, the ISRT is based on the detection of the individual intra-arterial shear rate. Here we report about the first clinical trial of 31 patients with CAD who were enrolled for 30 sessions of ISRT...
November 24, 2017: American Journal of Cardiology
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