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https://www.readbyqxmd.com/read/28432734/monogenic-diabetes-syndromes-locus-specific-databases-for-alstr%C3%A3-m-wolfram-and-thiamine-responsive-megaloblastic-anaemia
#1
Dewi Astuti, Ataf Sabir, Piers Fulton, Malgorzata Zatyka, Denise Williams, Carol Hardy, Gabriella Milan, Francesca Favaretto, Patrick Yu-Wai-Man, Julia Rohayem, Miguel López de Heredia, Tamara Hershey, Lisbeth Tranebjaerg, Jian-Hua Chen, Annabel Chaussenot, Virginia Nunes, Bess Marshall, Susan McAfferty, Vallo Tillmann, Pietro Maffei, Veronique Paquis-Flucklinger, Tarekign Geberhiwot, Wojciech Mlynarski, Kay Parkinson, Virginie Picard, Gema Esteban Bueno, Renuka Dias, Amy Arnold, Caitlin Richens, Richard Paisey, Fumi Urano, Robert Semple, Richard Sinnott, Timothy G Barrett
We developed a variant database for diabetes syndrome genes, using the Leiden Open Variation Database platform, containing observed phenotypes matched to the genetic variations. We populated it with 628 published disease associated variants (December 2016) for: WFS1 (n = 309), CISD2 (n = 3), ALMS1 (n = 268), and SLC19A2 (n = 48) for Wolfram type 1, Wolfram type 2, Alström and Thiamine-responsive megaloblastic anaemia syndromes respectively; and included 23 previously unpublished novel germline variants in WFS1 and 17 variants in ALMS1...
April 21, 2017: Human Mutation
https://www.readbyqxmd.com/read/28431061/high-prevalence-of-arrhythmic-and-myocardial-complications-in-patients-with-cardiac-glycogenosis-due-to-prkag2-mutations
#2
Julien Thevenon, Gabriel Laurent, Flavie Ader, Pascal Laforêt, Didier Klug, Anju Duva Pentiah, Laurent Gouya, Claude Alain Maurage, Salem Kacet, Jean-Christophe Eicher, Juliette Albuisson, Michel Desnos, Eric Bieth, Denis Duboc, Laurent Martin, Patricia Réant, François Picard, Claire Bonithon-Kopp, Elodie Gautier, Christine Binquet, Christel Thauvin-Robinet, Laurence Faivre, Patrice Bouvagnet, Philippe Charron, Pascale Richard
Aims: Mutations in PRKAG2, the gene encoding for the γ2 subunit of 5'-AMP-activated protein kinase (AMPK), are responsible for an autosomal dominant glycogenosis with a cardiac presentation, associating hypertrophic cardiomyopathy (HCM), ventricular pre-excitation (VPE), and progressive heart block. The aim of this study was to perform a retrospective time-to-event study of the clinical manifestations associated with PRKAG2 mutations. Methods and Results: A cohort of 34 patients from 9 families was recruited between 2001 and 2010...
April 1, 2017: Europace: European Pacing, Arrhythmias, and Cardiac Electrophysiology
https://www.readbyqxmd.com/read/28430512/simplifying-differential-equations-for-multiscale-feynman-integrals-beyond-multiple-polylogarithms
#3
Luise Adams, Ekta Chaubey, Stefan Weinzierl
In this Letter we exploit factorization properties of Picard-Fuchs operators to decouple differential equations for multiscale Feynman integrals. The algorithm reduces the differential equations to blocks of the size of the order of the irreducible factors of the Picard-Fuchs operator. As a side product, our method can be used to easily convert the differential equations for Feynman integrals which evaluate to multiple polylogarithms to an ϵ form.
April 7, 2017: Physical Review Letters
https://www.readbyqxmd.com/read/28428270/mutations-in-the-adaptor-binding-domain-and-associated-linker-region-of-p110%C3%AE-cause-activated-pi3k-%C3%AE-syndrome-1-apds1
#4
Lucie Heurtier, Hicham Lamrini, Loïc Chentout, Marie-Céline Deau, Amine Bouafia, Jérémie Rosain, Jean-Marc Plaza, Mélanie Parisot, Benoit Dumont, Delphine Turpin, Etienne Merlin, Despina Moshous, Nathalie Aladjidi, Bénédicte Neven, Capucine Picard, Marina Cavazzana, Alain Fischer, Anne Durandy, Jean-Louis Stephan, Sven Kracker
No abstract text is available yet for this article.
April 20, 2017: Haematologica
https://www.readbyqxmd.com/read/28426924/high-dose-pulsed-corticosteroid-therapy-combined-with-methotrexate-for-severe-alopecia-areata-of-childhood
#5
J H Chong, A Taïeb, F Morice-Picard, A S Dutkiewicz, C Léauté-Labrèze, F Boralevi
Alopecia areata (AA) in childhood can run a chronic course and worsen over time(1). Spontaneous hair regrowth is rarely appreciated in chronic severe AA(2-4). Our centre described the ineffective use of high dose pulsed corticosteroid therapy (HDPCT) in the long term(1). Methotrexate (MTX) as a maintenance therapy following HDPCT showed some success in adults(5). Although the evidence for using either drug individually was weak(6), the combination of using both was not well studied. This article is protected by copyright...
April 20, 2017: Journal of the European Academy of Dermatology and Venereology: JEADV
https://www.readbyqxmd.com/read/28425091/marine-bioluminescence-measurement-by-a-classical-light-sensor-and-related-foraging-behaviour-of-a-deep-diving-predator
#6
Jade Vacquié-Garcia, Jérôme Mallefet, Frédéric Bailleul, Baptiste Picard, Christophe Guinet
Bioluminescence is produced by a broad range of organisms for defense, predation or communication purposes. Southern elephant seal (SES) vision is adapted to low intensity light with a peak sensitivity, matching the wavelength emitted by myctophid species, one of the main prey of female SES. A total of 11 satellite-tracked female SES were equipped with a Time-Depth-Light 3D-accelerometers (TDR10-X) in order to assess whether bioluminescence could be used by SES to locate their prey. First, we demonstrated experimentally that the TDR10-X light sensor was sensitive enough to detect natural bioluminescence; however, we highlighted a low distance detection of the sensor...
April 20, 2017: Photochemistry and Photobiology
https://www.readbyqxmd.com/read/28414293/inherited-gins1-deficiency-underlies-growth-retardation-along-with-neutropenia-and-nk-cell-deficiency
#7
Julien Cottineau, Molly C Kottemann, Francis P Lach, Young-Hoon Kang, Frédéric Vély, Elissa K Deenick, Tomi Lazarov, Laure Gineau, Yi Wang, Andrea Farina, Marie Chansel, Lazaro Lorenzo, Christelle Piperoglou, Cindy S Ma, Patrick Nitschke, Aziz Belkadi, Yuval Itan, Bertrand Boisson, Fabienne Jabot-Hanin, Capucine Picard, Jacinta Bustamante, Céline Eidenschenk, Soraya Boucherit, Nathalie Aladjidi, Didier Lacombe, Pascal Barat, Waseem Qasim, Jane A Hurst, Andrew J Pollard, Holm H Uhlig, Claire Fieschi, Jean Michon, Vladimir P Bermudez, Laurent Abel, Jean-Pierre de Villartay, Frédéric Geissmann, Stuart G Tangye, Jerard Hurwitz, Eric Vivier, Jean-Laurent Casanova, Agata Smogorzewska, Emmanuelle Jouanguy
Inborn errors of DNA repair or replication underlie a variety of clinical phenotypes. We studied 5 patients from 4 kindreds, all of whom displayed intrauterine growth retardation, chronic neutropenia, and NK cell deficiency. Four of the 5 patients also had postnatal growth retardation. The association of neutropenia and NK cell deficiency, which is unusual among primary immunodeficiencies and bone marrow failures, was due to a blockade in the bone marrow and was mildly symptomatic. We discovered compound heterozygous rare mutations in Go-Ichi-Ni-San (GINS) complex subunit 1 (GINS1, also known as PSF1) in the 5 patients...
April 17, 2017: Journal of Clinical Investigation
https://www.readbyqxmd.com/read/28407697/cytosolic-hsp90%C3%AE-and-its-mitochondrial-isoform-trap1-are-differentially-required-in-a-breast-cancer-model
#8
Evangelia Vartholomaiou, Marta Madon-Simon, Stéphane Hagmann, Guillaume Mühlebach, Wolfgang Wurst, Thomas Floss, Didier Picard
The Hsp90 family of molecular chaperones includes the cytosolic isoforms Hsp90α and Hsp90β, and the mitochondrial isoform Trap1. Hsp90α/β support a large number of client proteins in the cytoplasm and the nucleus whereas Trap1 regulates oxidative phosphorylation in mitochondria. Many of the associated proteins and cellular processes are relevant to cancer, and there is ample pharmacological and genetic evidence to support the idea that Hsp90α/β and Trap1 are required for tumorigenesis. However, a direct and comparative genetic test in a mouse cancer model has not been done...
March 14, 2017: Oncotarget
https://www.readbyqxmd.com/read/28403047/risk-factors-in-children-older-than-5-years-with-pneumococcal-meningitis-data-from-a-national-network
#9
Fanny Hénaff, Corinne Levy, Robert Cohen, Capucine Picard, Emmanuelle Varon, Christèle Gras Le Guen, Elise Launay
BACKGROUND: The occurrence of meningitis in children >5 years old may be associated with specific predisposing factors that can be anatomic, such as cerebrospinal fluid fistula or breach, or related to genetic susceptibility or N inborn or acquired immunologic defect. This study aimed to assess the anatomical and immunologic risk factors in children >5 years old with pneumococcal meningitis and prospectively enrolled in the French national meningitis network. METHODS: We analyzed all data for children who were 5-15 years old with a diagnosis of pneumococcal meningitis between 2001 and 2013...
May 2017: Pediatric Infectious Disease Journal
https://www.readbyqxmd.com/read/28398264/factors-affecting-species-identifications-of-blow-fly-pupae-based-upon-chemical-profiles-and-multivariate-statistics
#10
William Kranz, Clinton Carroll, Darren A Dixon, John V Goodpaster, Christine J Picard
Alternative methods for the identification of species of blow fly pupae have been developed over the years that consist of the analyses of chemical profiles. However, the effect of biotic and abiotic factors that could influence the predictive manner for the tests have not been evaluated. The lipids of blowfly pupae (Cochliomyia macellaria, Lucilia cuprina, Lucilia sericata, and Phormia regina) were extracted in pentane, derivatized, and analyzed by total-vaporization solid phase microextraction gas chromatography-mass spectrometry (TV-SPME GC-MS)...
April 11, 2017: Insects
https://www.readbyqxmd.com/read/28395510/synthesis-and-surface-functionalization-of-hydride-terminated-ge-nanocrystals-obtained-from-the-thermal-treatment-of-ge-oh-2
#11
Morteza Javadi, Darren Picard, Regina Sinelnikov, Mary Alvean Narreto, Frank A Hegmann, Jonathan G C Veinot
The synthesis of germanium nanocrystals (GeNCs) with well-defined surface chemistry is of considerable interest because of their potential applications in the optoelectronic, battery, and semiconductor industries. Modifying and tailoring GeNC surface chemistry provides an avenue by which reactivity, environmental compatibility (e.g., solubility, resistance to oxidation), and electronic properties may be tailored. Hydride-terminated GeNCs (H-GeNCs) are of particular interest because the reactivity of surface Ge-H bonds toward alkenes and alkynes via hydrogermylation affords the potential for convenient modification; however, these reactions and their scope have not been widely explored...
April 19, 2017: Langmuir: the ACS Journal of Surfaces and Colloids
https://www.readbyqxmd.com/read/28394352/spatial-heterogeneity-in-medulloblastoma
#12
A Sorana Morrissy, Florence M G Cavalli, Marc Remke, Vijay Ramaswamy, David J H Shih, Borja L Holgado, Hamza Farooq, Laura K Donovan, Livia Garzia, Sameer Agnihotri, Erin N Kiehna, Eloi Mercier, Chelsea Mayoh, Simon Papillon-Cavanagh, Hamid Nikbakht, Tenzin Gayden, Jonathon Torchia, Daniel Picard, Diana M Merino, Maria Vladoiu, Betty Luu, Xiaochong Wu, Craig Daniels, Stuart Horswell, Yuan Yao Thompson, Volker Hovestadt, Paul A Northcott, David T W Jones, John Peacock, Xin Wang, Stephen C Mack, Jüri Reimand, Steffen Albrecht, Adam M Fontebasso, Nina Thiessen, Yisu Li, Jacqueline E Schein, Darlene Lee, Rebecca Carlsen, Michael Mayo, Kane Tse, Angela Tam, Noreen Dhalla, Adrian Ally, Eric Chuah, Young Cheng, Patrick Plettner, Haiyan I Li, Richard D Corbett, Tina Wong, William Long, James Loukides, Pawel Buczkowicz, Cynthia E Hawkins, Uri Tabori, Brian R Rood, John S Myseros, Roger J Packer, Andrey Korshunov, Peter Lichter, Marcel Kool, Stefan M Pfister, Ulrich Schüller, Peter Dirks, Annie Huang, Eric Bouffet, James T Rutka, Gary D Bader, Charles Swanton, Yusanne Ma, Richard A Moore, Andrew J Mungall, Jacek Majewski, Steven J M Jones, Sunit Das, David Malkin, Nada Jabado, Marco A Marra, Michael D Taylor
Spatial heterogeneity of transcriptional and genetic markers between physically isolated biopsies of a single tumor poses major barriers to the identification of biomarkers and the development of targeted therapies that will be effective against the entire tumor. We analyzed the spatial heterogeneity of multiregional biopsies from 35 patients, using a combination of transcriptomic and genomic profiles. Medulloblastomas (MBs), but not high-grade gliomas (HGGs), demonstrated spatially homogeneous transcriptomes, which allowed for accurate subgrouping of tumors from a single biopsy...
April 10, 2017: Nature Genetics
https://www.readbyqxmd.com/read/28394168/the-development-of-haptic-processing-skills-from-childhood-to-adulthood-by-means-of-two-dimensional-materials
#13
Anaïs Mazella, Jean-Michel Albaret, Delphine Picard
Research into haptic perception has mostly focused on 3-dimensional objects, and more needs to be known about the processing of 2-dimensional materials (e.g., raised dots and lines and raised-line shapes, patterns and pictures). This study examines the age-related changes in various skills related to the haptic exploration of 2-dimensional raised-line and dot materials and how these skills are related to haptic picture perception. Ninety-one participants, aged 4 years to adult, were asked to perform a series of haptic tasks that entailed (a) finding dots and following lines; (b) matching elements based on texture, shape, and size; (c) matching elements based on spatial location and orientation; (d) memorising sequences of dots and shapes; and (e) identifying complete and incomplete raised-line pictures...
April 10, 2017: Canadian Journal of Experimental Psychology, Revue Canadienne de Psychologie Expérimentale
https://www.readbyqxmd.com/read/28389572/prognostic-value-of-noninvasive-cardiovascular-testing-in-patients-with-stable-chest-pain-insights-from-the-promise-trial
#14
Udo Hoffmann, Maros Ferencik, James E Udelson, Michael H Picard, Quynh A Truong, Manesh R Patel, Megan Huang, Michael J Pencina, Daniel B Mark, John F Heitner, Christopher B Fordyce, Patricia A Pellikka, Jean-Claude Tardif, Matthew J Budoff, George Nahhas, Benjamin J Chow, Andrzej S Kosinski, Kerry L Lee, Pamela S Douglas
Background -Optimal management of patients with stable chest pain relies on the prognostic information provided by noninvasive cardiovascular testing, but there are limited data from randomized trials comparing anatomic with functional testing. Methods -In the Prospective Multicenter Imaging Study for Evaluation of Chest Pain (PROMISE) trial, patients with stable chest pain and intermediate pre-test probability for obstructive coronary artery disease (CAD) were randomized to functional testing (exercise electrocardiography, nuclear stress, or stress echocardiography) or coronary computed tomography angiography (CTA)...
April 7, 2017: Circulation
https://www.readbyqxmd.com/read/28388912/environmental-pollutants-a-possible-etiology-for-premature-ovarian-insufficiency-a-narrative-review-of-animal-and-human-data
#15
REVIEW
Pauline Vabre, Nicolas Gatimel, Jessika Moreau, Véronique Gayrard, Nicole Picard-Hagen, Jean Parinaud, Roger D Leandri
BACKGROUND: Because only 25% of cases of premature ovarian insufficiency (POI) have a known etiology, the aim of this review was to summarize the associations and mechanisms of the impact of the environment on this pathology. Eligible studies were selected from an electronic literature search from the PUBMED database from January 2000 to February 2016 and associated references in published studies. Search terms included ovary, follicle, oocyte, endocrine disruptor, environmental exposure, occupational exposure, environmental contaminant, pesticide, polyaromatic hydrocarbon, polychlorinated biphenyl PCB, phenol, bisphenol, flame retardant, phthalate, dioxin, phytoestrogen, tobacco, smoke, cigarette, cosmetic, xenobiotic...
April 7, 2017: Environmental Health: a Global Access Science Source
https://www.readbyqxmd.com/read/28379574/the-role-of-angiogenesis-in-group-3-medulloblastoma-pathogenesis-and-survival
#16
Eric M Thompson, Stephen T Keir, Talaignair Venkatraman, Christopher Lascola, Kristen W Yeom, Andrew B Nixon, Yingmiao Liu, Daniel Picard, Marc Remke, Darell D Bigner, Vijay Ramaswamy, Michael D Taylor
Background: Of the 4 medulloblastoma subgroups, Group 3 is the most aggressive but the importance of angiogenesis is unknown. This study sought to determine the role of angiogenesis and identify clinically relevant biomarkers of tumor vascularity and survival in Group 3 medulloblastoma. Methods: VEGFA mRNA expression and survival from several patient cohorts were analyzed. Group 3 xenografts were implanted intracranially in nude rats. Dynamic susceptibility weighted (DSC) MRI and susceptibility weighted imaging (SWI) were obtained...
April 3, 2017: Neuro-oncology
https://www.readbyqxmd.com/read/28374916/advances-in-methods-for-estimating-stopover-duration-for-migratory-species-using-capture-ndash-recapture-data
#17
S Guérin, D Picard, R Choquet, A Besnard
Many species are migratory, resulting in a lifecycle divided into periodic stages occurring in different habitats occupied for a limited amount of time. Estimating the time spent in each habitat is crucial to understanding how individuals modulate their activities and thus to evolutionary ecology and conservation biology. Several methods, including some recent promising advances, can be used to estimate stopover duration as well as arrival and departure probabilities at sites where individuals are monitored using capture-NDASH-recapture sampling...
April 4, 2017: Ecological Applications: a Publication of the Ecological Society of America
https://www.readbyqxmd.com/read/28371727/spreading-properties-of-cosmetic-emollients-use-of-synthetic-skin-surface-to-elucidate-structural-effect
#18
Marine Douguet, Céline Picard, Géraldine Savary, Fabien Merlaud, Nathalie Loubat-Bouleuc, Michel Grisel
The study focuses on the impact of structural and physicochemical properties of emollients on their spreadability. Fifty-three emollients, among which esters, silicones, vegetable and mineral oils, have been characterized. Their viscosity, surface tension, density and spreadability have been measured. Vitro-skin(®), an artificial skin substitute, was used as an artificial porous substrate to measure spreadability. Two different methods have been selected to characterize spreadability, namely contact angle and spreading value...
March 16, 2017: Colloids and Surfaces. B, Biointerfaces
https://www.readbyqxmd.com/read/28368462/strains-responsible-for-invasive-meningococcal-disease-in-patients-with-terminal-complement-pathway-deficiencies
#19
Jérémie Rosain, Eva Hong, Claire Fieschi, Paula Vieira Martins, Carine El Sissy, Ala-Eddine Deghmane, Marie Ouachée, Caroline Thomas, David Launay, Loïc de Pontual, Felipe Suarez, Despina Moshous, Capucine Picard, Muhamed-Kheir Taha, Véronique Frémeaux-Bacchi
Background.: Patients with terminal complement pathway deficiencies (TPD) are susceptible to recurrent invasive meningococcal disease (IMD). Neisseria meningitidis (Nm) strains infecting these patients are poorly documented in the literature. Methods.: We identified patients with TPD and available Nm strains isolated during IMD. We investigated the genetic basis of the different TPD and the characteristics of the Nm strains. Results.: We included n=56 patients with C5 (n=8), C6 (n=20), C7 (n=18), C8 (n=9) or C9 (n=1) deficiency...
March 25, 2017: Journal of Infectious Diseases
https://www.readbyqxmd.com/read/28365201/pregnancy-after-bariatric-surgery-balancing-risks-and-benefits
#20
REVIEW
Anne-Marie Carreau, Mélanie Nadeau, Simon Marceau, Picard Marceau, S John Weisnagel
The majority of bariatric surgeries in Canada are performed in women of reproductive age. Clinicians encounter more and more often pregnancies that occur after bariatric surgeries. The appropriate management and education of women who want to conceive after bariatric surgery is still unclear due to the lack of consistent data about maternal and neonatal outcomes following bariatric surgery. Maternal obesity during pregnancy confers a higher risk for gestational diabetes, hypertensive disorders, congenital malformations, prematurity and perinatal mortality...
March 29, 2017: Canadian Journal of Diabetes
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