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Jacob W P Potuijt, Martijn Baas, Rivka Sukenik-Halevy, Hannie Douben, Picard Nguyen, Deon J Venter, Renée Gallagher, Sigrid M Swagemakers, Steven E R Hovius, Christianne A van Nieuwenhoven, Robert-Jan H Galjaard, Peter J van der Spek, Nadav Ahituv, Annelies de Klein
PurposeThe zone of polarizing activity regulatory sequence (ZRS) is an enhancer that regulates sonic hedgehog during embryonic limb development. Recently, mutations in a noncoding evolutionary conserved sequence 500 bp upstream of the ZRS, termed the pre-ZRS (pZRS), have been associated with polydactyly in dogs and humans. Here, we report the first case of triphalangeal thumb-polysyndactyly syndrome (TPT-PS) to be associated with mutations in this region and show via mouse enhancer assays how this mutation leads to ectopic expression throughout the developing limb bud...
March 15, 2018: Genetics in Medicine: Official Journal of the American College of Medical Genetics
Maria Grazia Dente, Flavia Riccardo, Gloria Nacca, Alessia Ranghiasci, Camille Escadafal, Lobna Gaayeb, Miguel Angel Jiménez-Clavero, Jean-Claude Manuguerra, Marie Picard, Jovita Fernández-Pinero, Elisa Pérez-Ramírez, Vincent Robert, Kathleen Victoir, Silvia Declich
In the context of One Health, there is presently an effort to integrate surveillance of human, animal, entomological, and environmental sectors. This aims to strengthen the prevention of, and preparedness against, arbovirus infections, also in the light of environmental and climate changes that could increase the risk of transmission. However, criteria to define integrated surveillance, and to compare different systems, still need to be identified and tested. We conducted a scoping review to identify and examine surveillance systems for West Nile virus (WNV), chikungunya virus (CHKV), dengue virus (DENV), and Rift Valley fever virus (RVFV), which involve human, animal, entomological, and environmental sectors...
March 10, 2018: International Journal of Environmental Research and Public Health
Charity G Owings, Christine Skaggs, Winyu Sheriff, Nicholas Manicke, Christine J Picard
Filth flies are commonly implicated in pathogen transmission routes due to their affinity for vertebrate waste and their synanthropic associations. However, solidifying the link between flies and infected feces in the wild can be difficult, as interpretations made solely from microbial culturing or sequencing methods may represent an incomplete picture of pathogen acquisition. We present an analytical assay using high performance liquid chromatography tandem mass spectrometry (HPLC MS/MS) to detect vertebrate fecal metabolites (urobilinoids) in adult blow fly guts...
March 9, 2018: Environmental Entomology
Karina S Gobin, Mary Hintermeyer, Bertrand Boisson, Maya Chrabieh, Pegah Ghandil, Anne Puel, Capucine Picard, Jean-Laurent Casanova, John Routes, James Verbsky
[This corrects the article on p. 83 in vol. 5, PMID: 28503543.].
2018: Frontiers in Pediatrics
B Chantemargue, F Di Meo, K Berka, N Picard, H Arnion, M Essig, P Marquet, M Otyepka, P Trouillas
The ABCC4/MRP4 exporter has a clinical impact on membrane transport of a broad range of xenobiotics. It is expressed at key locations for drug disposition or effects such as in the liver, the kidney and blood cells. Several polymorphisms and mutations (e.g., p.Gly187Trp) leading to MRP4 dysfunction are associated with an increased risk of toxicity of some drugs. So far, no human MRP4 structure has been elucidated, precluding rationalization of these dysfunctions at a molecular level. We constructed atomistic model of the wild type (WT) MRP4 and the p...
March 9, 2018: Pharmacological Research: the Official Journal of the Italian Pharmacological Society
Bijou R Hunt, Charlotte Picard, Jana L Hirschtick, Nancy Glick
While data on HIV testing prevalence is readily available at the national, state, and more rarely at the city level, few data are available on HIV testing at the community level, where public health initiatives may be most effectively implemented. Community-level data are necessary given that city, state, and national estimates mask variation occurring at the community level in large urban areas. This type of data is crucial for informing education efforts both within the community and among providers. The current study uses the Sinai Community Health Survey 2...
March 7, 2018: AIDS Care
Camille Ribeyre, Federico Carlini, Céline René, François Jordier, Christophe Picard, Jacques Chiaroni, Laurent Abi-Rached, Philippe Gouret, Grégory Marin, Nicolas Molinari, Pascal Chanez, Julien Paganini, Delphine Gras, Julie Di Cristofaro
Human leukocyte antigen (HLA)-G, a HLA class Ib molecule, interacts with receptors on lymphocytes such as T cells, B cells, and natural killer cells to influence immune responses. Unlike classical HLA molecules, HLA-G expression is not found on all somatic cells, but restricted to tissue sites, including human bronchial epithelium cells (HBEC). Individual variation in HLA-G expression is linked to its genetic polymorphism and has been associated with many pathological situations such as asthma, which is characterized by epithelium abnormalities and inflammatory cell activation...
2018: Frontiers in Immunology
Juan Sanchis, Albert Ariza-Solé, Emad Abu-Assi, Oriol Alegre, Fernando Alfonso, José Antonio Barrabés, José Antonio Baz, Antonio Carol, Pablo Díez Villanueva, Bruno García Del Blanco, Jaime Elízaga, Eduard Fernandez, Abel García Del Egido, Joan García Picard, Iván Gómez Blázquez, Joan Antoni Gómez Hospital, Rosana Hernández-Antolín, Cinta Llibre, Francisco Marín, David Martí Sánchez, Roberto Martín, Manuel Martínez Sellés, Gema Miñana, María José Morales Gallardo, Julio Núñez, Armando Pérez de Prado, Eduardo Pinar, Marcelo Sanmartín, Alessandro Sionis, Adolfo Villa, Jaume Marrugat, Héctor Bueno
INTRODUCTION AND OBJECTIVES: Although clinical guidelines recommend invasive management in non-ST-segment elevation myocardial infarction (NSTEMI), this strategy is underused in frail elderly patients in the real world. Furthermore, these patients are underrepresented in clinical trials and therefore the evidence is scarce. Our hypothesis is that an invasive strategy will improve prognosis in elderly frail patients with NSTEMI. METHODS: This will be a prospective, multicenter, randomized trial, in which the conservative and invasive strategies will be compared in patients meeting all of the following inclusion criteria: NSTEMI diagnosis, age ≥ 70 years, and frailty defined by a category ≥ 4 in the Clinical Frailty Scale...
March 7, 2018: Revista Española de Cardiología
Martin Picard, Aric A Prather, Eli Puterman, Alexanne Cuillerier, Michael Coccia, Kirstin Aschbacher, Yan Burelle, Elissa S Epel
BACKGROUND: Chronic life stress, such as the stress of caregiving, can promote pathophysiology, but the underlying cellular mechanisms are not well understood. Chronic stress may induce recalibrations in mitochondria leading to changes either in mitochondrial content per cell, or in mitochondrial functional capacity (i.e., quality). METHODS: Here we present a functional index of mitochondrial health (MHI) for human leukocytes that can distinguish between these two possibilities...
February 3, 2018: Biological Psychiatry
Sarah Bertoli, Muriel Picard, Emilie Bérard, Emmanuel Griessinger, Clément Larrue, Pierre-Luc Mouchel, François Vergez, Suzanne Tavitian, Edwige Yon, Jean Ruiz, Eric Delabesse, Isabelle Luquet, Laetitia Karine Linares, Estelle Saland, Martin Carroll, Gwenn Danet-Desnoyers, Audrey Sarry, Françoise Huguet, Jean-Emmanuel Sarry, Christian Récher
Patients with acute myeloid leukemia and a high white blood cell count are at increased risk for early death and relapse. Because mediators of inflammation contribute to leukostasis and chemoresistance, dexamethasone added to chemotherapy could improve outcomes. This retrospective study evaluated the impact of adding or not adding dexamethasone to chemotherapy in a cohort of 160 patients with at least 50x109 white blood cells. In silico studies, primary samples, leukemic cell lines, and xenograft mouse models were used to explore the antileukemic activity of dexamethasone...
March 8, 2018: Haematologica
Mark Sinyor, Ayal Schaffer, Marnin J Heisel, André Picard, Gavin Adamson, Christian P Cheung, Laurence Y Katz, Rakesh Jetly, Jitender Sareen
This paper has been substantially revised by the Canadian Psychiatric Association's Research Committee and approved for republication by the CPA's Board of Directors on May 3, 2017. The original policy paper1 was developed by the Scientific and Research Affairs Standing Committee and approved by the Board of Directors on November 10, 2008.
March 2018: Canadian Journal of Psychiatry. Revue Canadienne de Psychiatrie
Mohammed A Almustafa, Alistair M Ewen, Angela H Deakin, Frederic Picard, Jon V Clarke, Fahd F Mahmood
BACKGROUND: Surgical site infection (SSI) is a debilitating complication of lower limb arthroplasty with significant morbidity and increased costs. Numerous risk factors are associated with SSI. METHODS: In an effort to identify novel risk factors for SSI, we undertook a retrospective cohort study of 1832 primary total hip arthroplasties and 2100 primary total knee arthroplasties performed in our high volume arthroplasty unit over a 2-year period. RESULTS: Two risk factors were identified for SSI following total hip arthroplasty: body mass index ≥30 and peri-operative blood transfusion...
January 31, 2018: Journal of Arthroplasty
Cynthia Picard, Cédric Julien, Josée Frappier, Justin Miron, Louise Théroux, Doris Dea, John C S Breitner, Judes Poirier
Genome-wide association studies have identified several cholesterol metabolism-related genes as top risk factors for late-onset Alzheimer's disease (LOAD). We hypothesized that specific genetic variants could act as disease-modifying factors by altering the expression of those genes. Targeted association studies were conducted with available genomic, transcriptomic, proteomic, and histopathological data from 3 independent cohorts: the Alzheimer's Disease Neuroimaging Initiative (ADNI), the Quebec Founder Population (QFP), and the United Kingdom Brain Expression Consortium (UKBEC)...
February 9, 2018: Neurobiology of Aging
Sophie Carter, Stéphanie Miard, Alexandre Caron, Sandrine Sallé-Lefort, Philippe St-Pierre, Fernando Forato Anhê, Emilie Lavoie-Charland, Pascale Blais-Lecours, Marie-Claude Drolet, Julie S Lefebvre, Julie Lacombe, Yves Deshaies, Jacques Couet, Mathieu Laplante, Mathieu Ferron, Yohan Bossé, André Marette, Denis Richard, David Marsolais, Frédéric Picard
The current demographic shift toward an aging population has led to a robust increase in the prevalence of age-associated metabolic disorders. Interestingly, recent studies have demonstrated that the etiology of obesity-related insulin resistance developed upon aging differs from that induced by high-calorie diets. Whereas the role of adaptive immunity on the changes in energy metabolism driven by nutritional challenges has gained attention in the past years, its impact upon aging remains mostly unknown. Here, we found that follicular B2 lymphocytes and expression levels of the B cell-specific transcriptional coactivator OcaB increase with age in spleen and in intra-abdominal epididymal white adipose tissue (eWAT), concomitantly with higher circulating levels of immunoglobulin G (IgG) and impaired glucose homeostasis...
March 1, 2018: Diabetes
Veronica Ferrucci, Pasqualino de Antonellis, Francesco Paolo Pennino, Fatemeh Asadzadeh, Antonella Virgilio, Donatella Montanaro, Aldo Galeone, Iolanda Boffa, Ida Pisano, Iolanda Scognamiglio, Luigi Navas, Donatella Diana, Emilia Pedone, Sara Gargiulo, Matteo Gramanzini, Arturo Brunetti, Laura Danielson, Marianeve Carotenuto, Lucia Liguori, Antonio Verrico, Lucia Quaglietta, Maria Elena Errico, Valentina Del Monaco, Valeria D'Argenio, Felice Tirone, Angela Mastronuzzi, Vittoria Donofrio, Felice Giangaspero, Daniel Picard, Marc Remke, Livia Garzia, Craig Daniels, Olivier Delattre, Fredrik J Swartling, William A Weiss, Francesco Salvatore, Roberto Fattorusso, Louis Chesler, Michael D Taylor, Giuseppe Cinalli, Massimo Zollo
Genetic modifications during development of paediatric groups 3 and 4 medulloblastoma are responsible for their highly metastatic properties and poor patient survival rates. PRUNE1 is highly expressed in metastatic medulloblastoma group 3, which is characterized by TGF-β signalling activation, c-MYC amplification, and OTX2 expression. We describe the process of activation of the PRUNE1 signalling pathway that includes its binding to NME1, TGF-β activation, OTX2 upregulation, SNAIL (SNAI1) upregulation, and PTEN inhibition...
February 27, 2018: Brain: a Journal of Neurology
Marie-Anne Loriot, Joseph Ciccolini, Fabienne Thomas, Chantal Barin-Le-Guellec, Bernard Royer, Gérard Milano, Nicolas Picard, Laurent Becquemont, Céline Verstuyft, Céline Narjoz, Antonin Schmitt, Christine Bobin-Dubigeon, Alexandre Harle, Angelo Paci, Vianney Poinsignon, Sylvie Quaranta, Alexandre Evrard, Benjamin Hennart, Franck Broly, Xavier Fonrose, Claire Lafay-Chebassier, Anne-Sophie Wozny, Fadil Masskouri, Jean-Christophe Boyer, Marie-Christine Etienne-Grimaldi
Fluoropyrimidines (FU) are still the most prescribed anticancer drugs for the treatment of solid cancers. However, fluoropyrimidines cause severe toxicities in 10 to 40% of patients and toxic deaths in 0.2 to 0.8% of patients, resulting in a real public health problem. The main origin of FU-related toxicities is a deficiency of dihydropyrimidine dehydrogenase (DPD), the rate-limiting enzyme of 5-FU catabolism. DPD deficiency may be identified through pharmacogenetics testing including phenotyping (direct or indirect measurement of enzyme activity) or genotyping (detection of inactivating polymorphisms on the DPYD gene)...
February 24, 2018: Bulletin du Cancer
Rachel Shirazi, Daniela Ram, Aviya Rakovsky, Efrat Bucris, Yael Gozlan, Yaniv Lustig, Pninit Shaked-Mishan, Orit Picard, Yonat Shemer-Avni, Haim Ben-Zvi, Ora Halutz, Yoav Lurie, Ella Veizman, Matthias Carlebach, Marius Braun, Michal Cohen- Naftaly, Amir Shlomai, Rifaat Safadi, Ella Mendelson, Ella H Sklan, Ziv Ben-Ari, Orna Mor
BACKGROUND: Characteristics of hepatitis B (HBV) and delta (HDV) coinfection in various geographical regions, including Israel, remain unclear. Here we studied HDV seroprevalence in Israel, assessed HDV/HBV viral loads, circulating genotypes and hepatitis delta antigen (HDAg) conservation. METHODS: Serological anti HDV IgG results from 8969 HBsAg positive individuals tested in 2010-2015 were retrospectively analyzed to determine HDV seroprevalence. In a cohort of HBV/HDV coinfected (n=58) and HBV monoinfected (n=27) patients, quantitative real-time PCR (qRT-PCR) and sequencing were performed to determine viral loads, genotypes and hepatitis delta antigen (HDAg) protein sequence...
February 27, 2018: BMC Infectious Diseases
André Picard
No abstract text is available yet for this article.
February 22, 2018: Lancet
J Chauvel-Picard, A Pierrefeu, O Harou, P Breton, N Sigaux
INTRODUCTION: Malignant chondroid syringomas, also known as cutaneous malignant mixed tumors, are rare neoplasms that most frequently occur on the torso or extremities of women. Here we present an illustrated case of a facial malignant chondroid syringoma. MATERIALS AND METHODS: A 32-year-old female patient with no notable medical history presented with an approximately 1cm-wide, painless, palpably-mobile subcutaneous nodule, suggestive of a sebaceous cyst, just above the middle third of the right eyebrow...
February 22, 2018: Journal of Stomatology, Oral and Maxillofacial Surgery
Sandra Pelleieux, Cynthia Picard, Louise Lamarre-Théroux, Doris Dea, Valérie Leduc, Youla S Tsantrizos, Judes Poirier
The mevalonate pathway has been described to play a key role in Alzheimer's disease (AD) physiopathology. Farnesyl pyrophosphate (FPP) and geranylgeranyl pyrophosphate (GGPP) are nonsterol isoprenoids derived from mevalonate, which serve as precursors to numerous human metabolites. They facilitate protein prenylation; hFPP and hGGPP synthases act as gateway enzymes to the prenylation of the small guanosine triphosphate (GTP) ase proteins such as RhoA and cdc42 that have been shown to facilitate phospho-tau (p-Tau, i...
February 2, 2018: Neurobiology of Aging
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