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https://www.readbyqxmd.com/read/28205076/do-orthopaedic-oncologists-agree-on-the-diagnosis-and-treatment-of-cartilage-tumors-of-the-appendicular-skeleton
#1
Tomas Zamora, Julio Urrutia, Daniel Schweitzer, Pedro Pablo Amenabar, Eduardo Botello
BACKGROUND: Distinguishing a benign enchondroma from a low-grade chondrosarcoma is a common diagnostic challenge for orthopaedic oncologists. Low interrater agreement has been observed for the diagnosis of cartilaginous neoplasms among radiologists and pathologists, but, to our knowledge, no study has evaluated inter- and intraobserver agreement among orthopaedic oncologists grading these lesions using initial clinical and imaging information. Determining such agreement is important since it reflects the certainty in the diagnosis by orthopaedic oncologists...
February 15, 2017: Clinical Orthopaedics and related Research
https://www.readbyqxmd.com/read/28202086/differential-roles-for-pathogenicity-islands-spi-13-and-spi-8-in-the-interaction-of-salmonella-enteritidis-and-salmonella-typhi-with-murine-and-human-macrophages
#2
Rodrigo A Espinoza, Cecilia A Silva-Valenzuela, Fernando A Amaya, Ítalo M Urrutia, Inés Contreras, Carlos A Santiviago
BACKGROUND: Salmonella pathogenicity island (SPI)-13 is conserved in many serovars of S. enterica, including S. Enteritidis, S. Typhimurium and S. Gallinarum. However, it is absent in typhoid serovars such as S. Typhi and Paratyphi A, which carry SPI-8 at the same genomic location. Because the interaction with macrophages is a critical step in Salmonella pathogenicity, in this study we investigated the role played by SPI-13 and SPI-8 in the interaction of S. Enteritidis and S. Typhi with cultured murine (RAW264...
February 15, 2017: Biological Research
https://www.readbyqxmd.com/read/28194745/understanding-approach-and-avoidance-in-verbal-descriptions-of-everyday-actions-an-erp-study
#3
Hipólito Marrero, Mabel Urrutia, David Beltrán, Elena Gámez, José M Díaz
Understanding verbal descriptions of everyday actions could involve the neural representation of action direction (avoidance and approach) toward persons and things. We recorded the electrophysiological activity of participants while they were reading approach/avoidance action sentences that were directed toward a target: a thing/a person (i.e., "Petra accepted/rejected Ramón in her group"/ "Petra accepted/rejected the receipt of the bank"). We measured brain potentials time locked to the target word. In the case of things, we found a N400-like component with right frontal distribution modulated by approach/avoidance action...
February 13, 2017: Cognitive, Affective & Behavioral Neuroscience
https://www.readbyqxmd.com/read/28188707/-the-jerusalem-chapter-a-new-paradigm-in-the-care-of-allergic-children-and-adolescents-in-latin-american-schools
#4
Dirceu Solé, Marilyn Urrutia-Pereira, Juan Carlos Sisul-Alvariza, Edgardo J Jares, Mario Sánchez-Borges, Ignacio J Ansotegui, Álvaro A Cruz, Herberto José Chong-Neto, Nelson Rosario, Sandra Nora González-Díaz, Héctor Badellino, Marylin Valentín-Rostán, René Maximiliano Gómez, Álvaro Teijeiro, Luis Felipe Ensina, Renata Cocco, Roseli Saccardo-Sarni
No abstract text is available yet for this article.
January 2017: Revista Alergia Mexico: Organo Oficial de la Sociedad Mexicana de Alergia e Inmunología, A.C
https://www.readbyqxmd.com/read/28182693/molecular-modeling-and-molecular-dynamic-simulation-of-the-effects-of-variants-in-the-tgfbr2-kinase-domain-as-a-paradigm-for-interpretation-of-variants-obtained-by-next-generation-sequencing
#5
Michael T Zimmermann, Raul Urrutia, Gavin R Oliver, Patrick R Blackburn, Margot A Cousin, Nicole J Bozeck, Eric W Klee
Variants in the TGFBR2 kinase domain cause several human diseases and can increase propensity for cancer. The widespread application of next generation sequencing within the setting of Individualized Medicine (IM) is increasing the rate at which TGFBR2 kinase domain variants are being identified. However, their clinical relevance is often uncertain. Consequently, we sought to evaluate the use of molecular modeling and molecular dynamics (MD) simulations for assessing the potential impact of variants within this domain...
2017: PloS One
https://www.readbyqxmd.com/read/28163941/novel-pathogenic-variant-in-tgfbr2-confirmed-by-molecular-modeling-is-a-rare-cause-of-loeys-dietz-syndrome
#6
Michael T Zimmermann, Raul A Urrutia, Patrick R Blackburn, Margot A Cousin, Nicole J Boczek, Eric W Klee, Colleen Macmurdo, Paldeep S Atwal
Loeys-Dietz syndrome (LDS) is a connective tissue disorder characterized by vascular findings of aneurysm and/or dissection of cerebral, thoracic, or abdominal arteries and skeletal findings. We report a case of a novel pathogenic variant in TGFBR2 and phenotype consistent with classic LDS. The proband was a 10-year-old presenting to the genetics clinic with an enlarged aortic root (Z-scores 5-6), pectus excavatum, and congenital contractures of the right 2nd and 3rd digit. Molecular testing of TGFBR2 was sent to a commercial laboratory and demonstrated a novel, likely pathogenic, variant in exon 4, c...
2017: Case Reports in Genetics
https://www.readbyqxmd.com/read/28131807/-prevalence-and-extension-of-coronary-artery-calcification-in-cardiovascular-asymptomatic-mexican-population-genetics-of-atherosclerotic-disease-study
#7
Carlos Posadas-Romero, Fabiola López-Bautista, Marco A Rodas-Díaz, Rosalinda Posadas-Sánchez, Eric Kimura-Hayama, Juan G Juárez-Rojas, Aida X Medina-Urrutia, Guillermo C Cardoso-Saldaña, Gilberto Vargas-Alarcón, Esteban Jorge-Galarza
OBJECTIVE: The prevalence of coronary artery calcification (CAC), a specific marker of atherosclerosis, is unknown in Mexico. Our aim was to investigate the prevalence and quantity of CAC and its associations with cardiovascular risk factors in Mexican population. METHODS: CAC was measured by multidetector computed tomography in asymptomatic subjects who participated in the Genetics of Atherosclerotic Disease study. Cardiovascular risk factors and medication were recorded...
January 25, 2017: Archivos de Cardiología de México
https://www.readbyqxmd.com/read/28123016/cdk5-regulation-of-the-grab-mediated-rab8-rab11-cascade-in-axon-outgrowth
#8
Kotaro Furusawa, Akiko Asada, Pamela Urrutia, Christian Gonzalez-Billault, Mitsunori Fukuda, Shin-Ichi Hisanaga
: Neurons communicate with each other through their axons and dendrites. However, a full characterization of the molecular mechanisms involved in axon and dendrite formation is still incomplete. Neurite outgrowth requires the supply of membrane components for surface expansion. Two membrane sources for axon outgrowth are suggested: Golgi secretary vesicles and endocytic recycling endosomes. In non-neuronal cells, trafficking of secretary vesicles from Golgi is regulated by Rab8, a member of Rab small GTPases, and that of recycling endosomes is by Rab11, another member of Rabs...
January 25, 2017: Journal of Neuroscience: the Official Journal of the Society for Neuroscience
https://www.readbyqxmd.com/read/28115378/in-vivo-single-cell-fluorescence-and-the-size-scaling-of-phytoplankton-chlorophyll-content
#9
Eva Álvarez, Enrique Nogueira, Ángel López-Urrutia
: In unicellular phytoplankton, the size scaling exponent of chlorophyll content per cell decreases with increasing light limitation. Empirical studies have explored this allometry combining data from several species using average values of pigment content and cell size for each species. The resulting allometry, includes thus phylogenetic and size scaling effects. The possibility of measuring single-cell fluorescence with imaging-in-flow cytometry devices allows the study of the size scaling of chlorophyll content at both the inter and intra-specific levels...
January 23, 2017: Applied and Environmental Microbiology
https://www.readbyqxmd.com/read/28090730/opinions-and-potential-solutions-regarding-dissemination-bias-from-funding-agencies-of-biomedical-research-in-europe
#10
Hector Pardo-Hernandez, Gerard Urrútia, Joerg J Meerpohl, Ana Marušić, Elizabeth Wager, Xavier Bonfill
RATIONALE, AIMS, AND OBJECTIVES: Several studies have found that about half of research results from clinical trials are never published. Until now, there has been little information on the views that funding agencies of biomedical research in Europe have regarding this issue and its possible solutions. METHODS: An electronic survey was conducted among funding agencies from 34 European countries. Participants were asked about their opinions, policies, and potential solutions regarding dissemination bias...
January 16, 2017: Journal of Evaluation in Clinical Practice
https://www.readbyqxmd.com/read/28087144/-contribution-of-microbiology-in-the-diagnosis-of-tuberculosis-in-castile-and-le%C3%A3-n-spain-findings-of-the-grumicale-2013-study
#11
Ramiro López-Medrano, Teresa Nebreda-Mayoral, M Fé Brezmes-Valdivieso, Susana García-de Cruz, Begoña Nogueira-González, Rafael Sánchez-Arroyo, Almudena Tinajas-Puertas, Nieves Gutiérrez-Zufiaurre, Cristina Labayru-Echeverría, Susana Hernando-Real, Luis López-Urrutia, Octavio Rivero-Lezcano, Belén Ullivarri-Francia, Raquel Rodríguez-Tarazona, Isabel Antolín-Ayala
INTRODUCTION AND OBJECTIVES: A retrospective study was conducted by collecting microbiological tuberculosis (TB) data in Castile and León during the year 2013 in order to determine the incidence and distribution of TB, and resistance to the tuberculostatic drug, and compare them with the epidemiological data provided by the Department of Epidemiological Surveillance (SIVE). MATERIAL AND METHODS: Microbiologists of the 14 hospitals of the Castile and León public health network (GRUMICALE) collected epidemiological, microbiological, and management data from the Microbiology laboratories in the community during the year 2013...
January 10, 2017: Enfermedades Infecciosas y Microbiología Clínica
https://www.readbyqxmd.com/read/28073828/an-activating-mutation-in-stat3-results-in-neonatal-diabetes-through-reduced-insulin-synthesis
#12
Teresa Velayos, Rosa Martínez, Milagros Alonso, Koldo Garcia-Etxebarria, Anibal Aguayo, Cristina Camarero, Inés Urrutia, Idoia Martínez de LaPiscina, Raquel Barrio, Izortze Santin, Luis Castaño
Neonatal diabetes mellitus (NDM) is a rare form of diabetes diagnosed within the first six months of life. Genetic studies have allowed the identification of several genes linked to the development of NDM, however genetic causes for around 20% of the cases remain to be clarified.Most cases of NDM involve isolated diabetes, but sometimes it appears in association with other pathological conditions, including autoimmune diseases. Recent reports have linked activating mutations in STAT3 with early-onset autoimmune disorders that include diabetes of autoimmune origin, however the functional impact of STAT3 activating mutations have not been characterized at the pancreatic β cell level...
January 10, 2017: Diabetes
https://www.readbyqxmd.com/read/28073472/the-interaction-between-cyanobacteria-and-zooplankton-in-a-more-eutrophic-world
#13
REVIEW
Kemal Ali Ger, Pablo Urrutia-Cordero, Paul C Frost, Lars-Anders Hansson, Orlando Sarnelle, Alan E Wilson, Miquel Lürling
As blooms of cyanobacteria expand and intensify in freshwater systems globally, there is increasing interest in their ecological effects. In addition to being public health hazards, cyanobacteria have long been considered a poor quality food for key zooplankton grazers that link phytoplankton to higher trophic levels. While past laboratory studies have found negative effects of nutritional constraints and defensive traits (i.e., toxicity and colonial or filamentous morphology) on the fitness of large generalist grazers (i...
April 2016: Harmful Algae
https://www.readbyqxmd.com/read/28060988/-neuromyelitis-optica-presenting-concomitantly-with-systemic-lupus-erythematosus-report-of-one-case
#14
Felipe Suárez H, Daniela Urrutia E, Felipe Canales P, Camila Gutiérrez O
Neuromyelitis optica (NMO) is a severe demyelinating disease of the central nervous system, which preferentially attacks the optic nerve and spinal cord. It is associated with antibodies against aquaporin 4. Morbidity and mortality are higher than in multiple sclerosis and its treatment focuses on immunosuppressive drugs. Immunomodulators are contraindicated. We report a previously healthy 35-year-old man, presenting with NMO concomitantly with systemic lupus erythematosus. His evolution was torpid with three outbreaks in the 10 months after the diagnosis, requiring a first-line therapy with methylprednisolone and cyclophosphamide and then a second-line therapy with rituximab...
September 2016: Revista Médica de Chile
https://www.readbyqxmd.com/read/28058813/outcomes-of-a-multi-community-hypertension-implementation-study-the-american-heart-association-s-check-change-control-program
#15
Monique L Anderson, Rachel Peragallo Urrutia, Emily C O'Brien, Nancy M Allen LaPointe, Alexander J Christian, Lisa A Kaltenbach, Laura E Webb, Angel M Alexander, Paramita Saha Chaudhuri, Juliana Crawford, Patrick Wayte, Eric D Peterson
: Single-site, intensive, community-based blood pressure (BP) intervention programs have led to BP improvements. The authors examined the American Heart Association's Check. Change. CONTROL: (CCC) program (4069 patients/18 cities) to determine whether BP interventions can effectively be scaled to multiple communities, using a simplified template and local customization. Effectiveness was evaluated at each site via site percent enrollment goals, participant engagement, and BP change from first to last measurement...
January 6, 2017: Journal of Clinical Hypertension
https://www.readbyqxmd.com/read/28057753/a-novel-kleefstra-syndrome-associated-variant-that-affects-the-conserved-tplx-motif-within-the-ankyrin-repeat-of-ehmt1-leads-to-abnormal-protein-folding
#16
Patrick R Blackburn, Alexander Tischer, Michael T Zimmermann, Jennifer L Kemppainen, Sujatha Sastry, Amy E Knight Johnson, Margot A Cousin, Nicole J Boczek, Gavin Oliver, Vinod K Misra, Ralitza H Gavrilova, Gwen A Lomberk, Matthew Auton, Raul A Urrutia, Eric W Klee
Kleefstra syndrome (KS) (MIM# 610253), also known as 9q34 deletion syndrome, is an autosomal dominant disorder caused by haploinsufficiency of euchromatic histone methyltransferase-1 (EHMT1). The clinical phenotype of KS includes moderate to severe intellectual disability with absent speech, hypotonia, brachycephaly, congenital heart defects, and dysmorphic facial features with hypertelorism, synophrys, macroglossia, protruding tongue, and prognathism. Only a few cases of de novo missense mutations in EHMT1 giving rise to KS have been described...
January 5, 2017: Journal of Biological Chemistry
https://www.readbyqxmd.com/read/28052112/lower-frequency-of-hla-drb1-type-1-diabetes-risk-alleles-in-pediatric-patients-with-mody
#17
Inés Urrutia, Rosa Martínez, Tamara López-Euba, Teresa Velayos, Idoia Martínez de LaPiscina, José Ramón Bilbao, Itxaso Rica, Luis Castaño
OBJECTIVE: The aim of this study was to determine the frequency of susceptible HLA-DRB1 alleles for type 1 diabetes in a cohort of pediatric patients with a confirmed genetic diagnosis of MODY. MATERIALS AND METHODS: 160 families with a proband diagnosed with type 1 diabetes and 74 families with a molecular diagnosis of MODY (61 GCK-MODY and 13 HNF1A-MODY) were categorized at high definition for HLA-DRB1 locus. According to the presence or absence of the susceptible HLA-DRB1 alleles for type 1 diabetes, we considered three different HLA-DRB1 genotypes: 0 risk alleles (no DR3 no DR4); 1 risk allele (DR3 or DR4); 2 risk alleles (DR3 and/or DR4)...
2017: PloS One
https://www.readbyqxmd.com/read/28005582/analysis-of-immunogenetic-factors-in-idiosyncratic-drug-induced-liver-injury-in-the-paediatric-population
#18
Esther Ocete-Hita, Ma José Salmerón-Fernández, Emilia Urrutia-Maldonado, Paloma Muñoz de Rueda, María Salmerón-Ruiz, Ma Carmen Martinez-Padilla, Angela Ruiz-Extremera
OBJECTIVE: Idiosyncratic drug-induced liver injury (DILI) is a multifactorial complex disease, in which the toxic potential of the drug, together with genetic and acquired factors and deficiencies in adaptive processes which limit the extent of damage, can determine susceptibility and make individuals unique in their development of hepatotoxicity. The aim of this study is to analyse the genetic factors (HLA, cytokine polymorphisms and KIR genotype) of children who experience an episode of drug-induced liver injury...
December 22, 2016: Journal of Pediatric Gastroenterology and Nutrition
https://www.readbyqxmd.com/read/28001219/high-seroconversion-rates-in-trypanosoma-cruzi-chronic-infection-treated-with-benznidazole-in-people-under-16-years-in-guatemala
#19
Lucia Brum-Soares, Juan-Carlos Cubides, Iris Burgos, Carlota Monroy, Leticia Castillo, Selene González, Pedro Albajar Viñas, Pedro Pablo Palma Urrutia
INTRODUCTION: Geographical, epidemiological, and environmental differences associated with therapeutic response to Chagas etiological treatment have been previously discussed. This study describes high seroconversion rates 72 months after benznidazole treatment in patients under 16 years from a project implemented by Doctors without Borders in Guatemala. METHODS: An enzyme-linked immunosorbent assay was used to detect Trypanosoma cruzi IgG antibodies in capillary blood samples from patients 72 months after treatment...
November 2016: Revista da Sociedade Brasileira de Medicina Tropical
https://www.readbyqxmd.com/read/27997898/mechanisms-of-iherg-ikr-modulation-by-%C3%AE-1-adrenoceptors-in-hek293-cells-and-cardiac-myocytes
#20
Janire Urrutia, Aintzane Alday, Mónica Gallego, L Layse Malagueta-Vieira, Ivan Arael Aréchiga-Figueroa, Oscar Casis, José Antonio Sánchez-Chapula
BACKGROUND: The rapid delayed rectifier K+ current (IKr), carried by the hERG protein, is one of the main repolarising currents in the human heart and a reduction of this current increases the risk of ventricular fibrillation. α1-adrenoceptors (α1-AR) activation reduces IKr but, despite the clear relationship between an increase in the sympathetic tone and arrhythmias, the mechanisms underlying the α1-AR regulation of the hERG channel are controversial. Thus, we aimed to investigate the mechanisms by which α1-AR stimulation regulates IKr...
2016: Cellular Physiology and Biochemistry
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