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https://www.readbyqxmd.com/read/28538178/wolf-hirschhorn-syndrome-candidate-1-is-necessary-for-correct-hematopoietic-and-b-cell-development
#1
Elena Campos-Sanchez, Nerea Deleyto-Seldas, Veronica Dominguez, Enrique Carrillo-de-Santa-Pau, Kiyoe Ura, Pedro P Rocha, JungHyun Kim, Arafat Aljoufi, Anna Esteve-Codina, Marc Dabad, Marta Gut, Holger Heyn, Yasufumi Kaneda, Keisuke Nimura, Jane A Skok, Maria Luisa Martinez-Frias, Cesar Cobaleda
Immunodeficiency is one of the most important causes of mortality associated with Wolf-Hirschhorn syndrome (WHS), a severe rare disease originated by a deletion in chromosome 4p. The WHS candidate 1 (WHSC1) gene has been proposed as one of the main genes responsible for many of the alterations in WHS, but its mechanism of action is still unknown. Here, we present in vivo genetic evidence showing that Whsc1 plays an important role at several points of hematopoietic development. Particularly, our results demonstrate that both differentiation and function of Whsc1-deficient B cells are impaired at several key developmental stages due to profound molecular defects affecting B cell lineage specification, commitment, fitness, and proliferation, demonstrating a causal role for WHSC1 in the immunodeficiency of WHS patients...
May 23, 2017: Cell Reports
https://www.readbyqxmd.com/read/28527664/a-new-hdv-mouse-model-identifies-mitochondrial-antiviral-signaling-protein-mavs-as-a-key-player-in-ifn-%C3%AE-induction
#2
Lester Suárez-Amarán, Carla Usai, Marianna Di Scala, Cristina Godoy, Yi Ni, Mirja Hommel, Laura Palomo, Víctor Segura, Cristina Olagüe, Africa Vales, Alicia Ruiz-Ripa, Maria Buti, Eduardo Salido, Jesús Prieto, Stephan Urban, Francisco Rodríguez-Frias, Rafael Aldabe, Gloria González-Aseguinolaza
BACKGROUND & AIMS: Studying hepatitis delta virus (HDV) and developing new treatments is hampered by the limited availability of small animal models. Here a description of a robust mouse model of HDV infection that mimics several important characteristics of the human disease is presented. METHODS: HDV- and HBV-replication competent genomes were delivered to the mouse liver using adeno-associated viruses (AAV) (AAV-HDV and AAV-HBV). Viral load, antigen expression and genomes were quantified at different time points after AAV injection...
May 17, 2017: Journal of Hepatology
https://www.readbyqxmd.com/read/28522115/interferon-alpha-2a-as-alternative-treatment-for-conjunctival-squamous-cell-carcinoma
#3
D Cruzado-Sánchez, M Salas-Diaz, W A Tellez, S E Alvarez-Matos, S Serpa-Frías
CASE REPORT: A 35 year-old male patient with a history of HIV infection characterized by progressive tumour growth in bulbar conjunctiva of the left eye, corresponding to conjunctival squamous cell carcinoma that responded to treatment with interferon alpha-2a. DISCUSSION: Interferon alpha-2b has been used at conjunctival level as a topical immunomodulator treatment, with complete remission of epithelial neoplasms being observed. However, there have not been any previous publications on the use of interferon alpha-2a, which differs from interferon alpha-2b in a single amino acid, for the treatment of conjunctival squamous cell carcinoma...
May 15, 2017: Archivos de la Sociedad Española de Oftalmología
https://www.readbyqxmd.com/read/28521314/romantic-relationships-of-people-with-borderline-personality-a-narrative-review
#4
Sara Navarro-Gómez, Álvaro Frías, Carol Palma
BACKGROUND: Romantic relationships are one of the most interesting areas of interpersonal functioning in people with borderline personality. The aim of this narrative review was to synthesise empirical findings on this issue. SAMPLING AND METHODS: The PubMed and PsycINFO databases were searched for pertinent materials published between 1980 and March 2016. Thirty articles met the inclusion criteria. RESULTS: Several longitudinal and cross-sectional studies showed that people with borderline personality disorder (BPD) or BPD traits had more - but less prolonged - romantic relationships than people without BPD...
May 19, 2017: Psychopathology
https://www.readbyqxmd.com/read/28492783/infant-mortality-surveillance-in-recife-pernambuco-brazil-operationalization-strengths-and-limitations
#5
Conceição Maria de Oliveira, Cristine Vieira do Bonfim, Maria José Bezerra Guimarães, Paulo Germano Frias, Verônica Cristina Sposito Antonino, Zulma Maria Medeiros
OBJECTIVE: to report the experience on infant mortality surveillance (IMS) in the municipality of Recife-PE, Brazil. METHODS: a documentary research and a query with key-informants who participated in the implementation and consolidation of the IMS were conducted; data of the Mortality Information System (SIM) and of the surveillance worksheets were used to measure the coverage of the investigated deaths. RESULTS: the implementation of the IMS has occurred gradually since 2003; the strategy is composed by (i) identification of deaths, (ii) investigation, (iii) discussion, (iv) recommendations and correction of vital statistics; upon completion of implementation (2006), 98...
April 2017: Epidemiologia e Servicos de Saude: Revista do Sistema Unico de Saude do Brasil
https://www.readbyqxmd.com/read/28472191/spontaneous-clearance-of-chronic-hepatitis-c-is-rare-in-hiv-infected-patients-after-effective-use-of-combination-antiretroviral-therapy
#6
Mario Frias, Antonio Rivero-Juarez, Francisco Tellez, Monserrat Perez-Perez, Angela Camacho, Isabel Machuca, Sandra Lorenzo-Moncada, Pedro Lopez-Lopez, Antonio Rivero
OBJECTIVE: To evaluate the rate of spontaneous resolution of chronic hepatitis C (CHC) infection in a cohort of HIV-infected patients. METHODS: A retrospective analysis of 509 HIV-infected patients with chronic HCV infection was performed at two reference hospitals in Andalusia. The main variable of the study was spontaneous clearance of CHC, defined as a negative HCV RNA result after at least two previous quantitative measurements of HCV RNA separated by a minimum of 12 months...
2017: PloS One
https://www.readbyqxmd.com/read/28457772/-jugular-murmur-as-a-multinodular-goiter-marker
#7
N Polo Fernández, M Frías Vargas, J Gorosabel Rebolleda, B López Uriarte
No abstract text is available yet for this article.
April 27, 2017: Semergen
https://www.readbyqxmd.com/read/28443480/adverse-placental-perfusion-and-pregnancy-outcomes-in-a-new-nonhuman-primate-model-of-gestational-protein-restriction
#8
Victoria H J Roberts, Jamie O Lo, Katherine S Lewandowski, Peter Blundell, Kevin L Grove, Christopher D Kroenke, Elinor L Sullivan, Charles T Roberts, Antonio E Frias
Maternal malnutrition during pregnancy impacts fetal growth, with developmental consequences that extend to later life outcomes. In underdeveloped countries, this malnutrition typically takes the form of poor dietary protein content and quality, even if adequate calories are consumed. Here, we report the establishment of a nonhuman primate model of gestational protein restriction (PR) in order to understand how placental function and pregnancy outcomes are affected by protein deficiency. Rhesus macaques were assigned to either a control diet containing 26% protein or switched to a 13% PR diet prior to conception and maintained on this PR diet throughout pregnancy...
January 1, 2017: Reproductive Sciences
https://www.readbyqxmd.com/read/28428013/-the-monophasic-pattern-in-oral-glucose-tolerance-test-as-a-predictive-risk-factor-of-type-2-diabetes-in-obese-paediatric-patients
#9
Aura D Herrera-Martínez, Patricia Enes, María Martín-Frías, Belén Roldán, Rosa Yelmo, Raquel Barrio
INTRODUCTION: The onset of obesity at young ages is strongly associated with the early development of type 2diabetes (T2D). The shape of the curves of glucose and insulin curves during an oral glucose tolerance test (OGTT) could predict the risk of developing T2D. OBJECTIVE: To analyse the morphology of the OGTT and determine T2D risk factors in a mainly Caucasian population of children and adolescents. METHODS: Observational retrospective study including 588 patients (309 males, 279 females) with a mean age of 11...
April 17, 2017: Anales de Pediatría: Publicación Oficial de la Asociación Española de Pediatría (A.E.P.)
https://www.readbyqxmd.com/read/28421803/factores-de-riesgo-relacionados-con-los-h%C3%A3-bitos-de-vida-en-pacientes-con-patolog%C3%A3-a-osteomuscular
#10
María Teresa Nestares, Macarena Salinas, Carlos De Teresa, Javier Díaz-Castro, Jorge Moreno-Fernández, Magdalena López-Frías
Introducción: las enfermedades osteomusculares (EOM) engloban una serie de patologías discapacitantes con alta incidencia y prevalencia, representando un alto costo económico y social. Es fundamental su prevención, por lo que es de gran interés determinar factores de riesgo modificables, como son los relacionados con los hábitos de vida.Métodos: se realizó un estudio descriptivo y trasversal en 91 pacientes seleccionados mediante muestreo aleatorio sistemático y que fueron distribuidos en tres grupos experimentales según la causa y evolución de su EOM (cervicalgia, gonalgia y lumbalgia)...
March 30, 2017: Nutrición Hospitalaria: Organo Oficial de la Sociedad Española de Nutrición Parenteral y Enteral
https://www.readbyqxmd.com/read/28419860/pedunculated-laryngeal-hemangioma-in-a-patient-with-suspected-atypical-symptoms-of-gerd
#11
César Prieto-Frías, Miguel Muñoz-Navas, Miguel Angel Idoate Gastearena
No abstract text is available yet for this article.
April 15, 2017: Clinical Gastroenterology and Hepatology
https://www.readbyqxmd.com/read/28417874/effectiveness-of-minimed-640g-with-smartguard%C3%A2-system-for-prevention-of-hypoglycemia-in-pediatric-patients-with-type-1-diabetes-mellitus
#12
Beatriz Villafuerte Quispe, María Martín Frías, M Belén Roldán Martín, Rosa Yelmo Valverde, M Ángeles Álvarez Gómez, Raquel Barrio Castellanos
INTRODUCTION/AIMS: Treatment with the MiniMed 640G-SmartGuard(®) system (640G-SG, sensor-augmented insulin pump system with low predicted glucose suspension feature) has been shown to decrease risk of hypoglycemia without altering metabolic control in patients with T1DM. The study purpose was to assess the impact of 640G-SG on hipoglycemia frequency and on metabolic control in a pediatric population with T1DM. PATIENTS/METHODS: A retrospective study on 21 children treated with 640G-SG...
April 2017: Endocrinol Diabetes Nutr
https://www.readbyqxmd.com/read/28411314/dental-enamel-as-biomarker-for-environmental-contaminants-in-relevant-industrialized-estuary-areas-in-s%C3%A3-o-paulo-brazil
#13
Vera Lucia Ferreira de Oliveira, Raquel Fernanda Gerlach, Lourdes Conceição Martins, Carolina de Souza Guerra, Paulo Frazão, Alfésio Luis Ferreira Braga, Luiz Alberto Amador Pereira
Heavy metal contamination is a long-standing and very well-known public health problem, and its exposure can cause damage to several organs of human body, especially on the central nervous system of young children and teenagers. The aim of this article is to evaluate lead, cadmium, and manganese contamination in 125 children from 6 to 13 years old living in contaminated areas during the period from 2006 to 2009 (São Vicente, Cubatão Downtown, Bertioga and Cubatão Pilões/Água Fria). This estuary area is the most important example of environmental degradation by chemicals from industrial sources...
April 14, 2017: Environmental Science and Pollution Research International
https://www.readbyqxmd.com/read/28403219/incidental-hepatocellular-carcinoma-after-liver-transplantation-prevalence-histopathological-features-and-prognostic-impact
#14
Pablo Pérez, Manuel Rodríguez-Perálvarez, Lourdes Guerrero, Víctor González, Rafael Sánchez, Macarena Centeno, Antonio Poyato, Javier Briceño, Marina Sánchez-Frías, Jose Luis Montero, Manuel De la Mata
BACKGROUND: Incidental hepatocellular carcinoma (iHCC) is a histological finding after liver transplantation (LT) which relevance has been scarcely studied. AIMS: to describe the histopathological features of iHCC and to determine its prognostic impact in terms of tumor recurrence and overall survival. METHODS: Observational study including 451 consecutive adult LT patients (2000-2013). Patients aged<18, retransplanted or with early postoperative death were excluded...
2017: PloS One
https://www.readbyqxmd.com/read/28399301/wing-polymorphism-and-trypanosoma-cruzi-infection-in-wild-peridomestic-and-domestic-collections-of-mepraia-spinolai-hemiptera-reduviidae-from-chile
#15
Daniel Frías-Lasserre, Christian R González, Carolina Reyes Valenzuela, Danila Blanco de Carvalho, Jader Oliveira, Mauricio Canals, Joao Aristeu da Rosa
Mepraia spinolai (Porter) is a vector of Trypanosoma cruzi that causes Chagas disease. Females are always wingless, but males may be winged or wingless. We determined by PCR the infection percentage with T. cruzi of M. spinolai adults and nymphs in domestic, peridomestic, and wild collections, in different regions of Chile. In all regions, winged males were more abundant than females and wingless males. Winged males collected inside houses were less parasitized than were those from peridomestic and wild environments...
March 24, 2017: Journal of Medical Entomology
https://www.readbyqxmd.com/read/28392234/selection-of-the-highly-replicative-and-partially-multidrug-resistant-rts78t-polymerase-mutation-in-two-patients-with-chronic-hepatitis-b-virus-infection-during-tenofovir-entecavir-combination-therapy
#16
Elham Shirvani-Dastgerdi, Benjamin Y Winer, Antoni Celia-Terrassa, Yibin Kang, David Tabernero, Eray Yagmur, Francisco Rodríguez-Frías, Josep Gregori, Tom Luedde, Christian Trautwein, Alexander Ploss, Frank Tacke
Patients chronically infected with the hepatitis B virus (HBV) that are on long-term treatment with nucleoside or nucleotide analogues are at risk of selecting HBV strains with complex mutational patterns. We herein report two cases of HBV-infected patients with insufficient viral suppression despite dual antiviral therapy with entecavir (ETV) and tenofovir (TDF), of which one patient died from aggressive hepatocellular carcinoma (HCC). Ultra-deep pyrosequencing analyses revealed the selection of the rtS78T polymerase mutation in both cases that creates a premature stop codon at sC69 and thereby deletes almost the entire small HBV surface protein...
April 6, 2017: Journal of Hepatology
https://www.readbyqxmd.com/read/28390267/effects-of-tgf%C3%AE-1-pdgf-bb-and-bfgf-on-human-corneal-fibroblasts-proliferation-and-differentiation-during-stromal-repair
#17
Patricia Gallego-Muñoz, Lucía Ibares-Frías, María Cruz Valsero-Blanco, Roberto Cantalapiedra-Rodriguez, Jesús Merayo-Lloves, M Carmen Martínez-García
In an effort to improve the regenerative nature of corneal repair, this study reports the use of an in vitro human corneal fibroblasts (HCFs) wound model after treatment with three of the main growth factors (GFs) involved in corneal healing: transforming growth factor beta 1 (TGFβ1), platelet-derived growth factor BB-isoform (PDGF-BB), and basic fibroblast growth factor (bFGF) in order to delve in cell proliferation and differentiation processes. HCFs were mechanically wounded. The individual effect of TGFβ1, PDGF-BB, and bFGF on cell proliferation and differentiation during the repair process was studied at different time points until wound closure...
April 5, 2017: Cytokine
https://www.readbyqxmd.com/read/28380150/-use-of-vital-data-to-estimate-mortality-indicators-in-brazil-from-the-active-search-for-events-to-the-development-of-methods
#18
Paulo Germano de Frias, Célia Landmann Szwarcwald, Otaliba Libânio de Morais, Maria do Carmo Leal, Juan José Cortez-Escalante, Paulo Roberto Borges de Souza, Wanessa da Silva de Almeida, Jarbas Barbosa da Silva
The article addresses Brazil's historical development in the use of vital data, incorporating procedures for the evaluation of such data and research with active search of births and deaths, resulting in the proposal of methods for calculating birth and mortality indicators through the use of continuous records. In addition to research to capture vital events from the years 2000 and 2008, the article presents procedures for the correction of events reported to the information systems and the paradigm shift in the method for calculating mortality indicators, resulting from such initiatives...
April 3, 2017: Cadernos de Saúde Pública
https://www.readbyqxmd.com/read/28376076/effects-of-growth-hormone-treatment-on-growth-plate-bone-and-mineral-metabolism-of-young-rats-with-uremia-induced-by-adenine
#19
Débora Claramunt, Helena Gil-Peña, Rocío Fuente, Enrique García-López, Olaya Hernández Frías, Flor A Ordoñez, Julián Rodríguez-Suárez, Fernando Santos
BackgroundIn a model of growth retardation secondary to chronic kidney disease (CKD) induced by adenine, this study explores the effects of growth hormone (GH) therapy on growth plate and mineral metabolism.MethodsWeaning female rats receiving a 0.5% adenine diet during 21 days, untreated (AD) or treated with GH (ADGH) for 1 week, were compared with control rats receiving normal diet, either ad libitum or pair-fed with AD animals. AD and ADGH rats had similarly elevated serum concentrations of urea nitrogen, parathyroid hormone (PTH), and fibroblast growth factor 23 (FGF23)...
April 26, 2017: Pediatric Research
https://www.readbyqxmd.com/read/28364727/hypothalamic-pituitary-adrenal-axis-genetic-variation-and-early-stress-moderates-amygdala-function
#20
Christina R Di Iorio, Caitlin E Carey, Lindsay J Michalski, Nadia S Corral-Frias, Emily Drabant Conley, Ahmad R Hariri, Ryan Bogdan
Early life stress may precipitate psychopathology, at least in part, by influencing amygdala function. Converging evidence across species suggests that links between childhood stress and amygdala function may be dependent upon hypothalamic-pituitary-adrenal (HPA) axis function. Using data from college-attending non-Hispanic European-Americans (n=308) who completed the Duke Neurogenetics Study, we examined whether early life stress (ELS) and HPA axis genetic variation interact to predict threat-related amygdala function as well as psychopathology symptoms...
June 2017: Psychoneuroendocrinology
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