0000000000902792

AUTHOR

Maria Martinez

showing 4 related works from this author

WES/WGS Reporting of Mutations from Cardiovascular "Actionable" Genes in Clinical Practice: A Key Role for UMD Knowledgebases in the Era of Big Datab…

2016

International audience; High-throughput next-generation sequencing such as whole-exome and whole-genome sequencing are being rapidly integrated into clinical practice. The use of these techniques leads to the identification of secondary variants for which decisions about the reporting or not to the patient need to be made. The American College of Medical Genetics and Genomics recently published recommendations for the reporting of these variants in clinical practice for 56 "actionable" genes. Among these, seven are involved in Marfan Syndrome And Related Disorders (MSARD) resulting from mutations of the FBN1, TGFBR1 and 2, ACTA2, SMAD3, MYH11 and MYLK genes. Here, we show that mutations col…

0301 basic medicinemedicine.medical_specialtyKnowledge BasesGenomicsmarfan-syndrome[SDV.GEN.GH] Life Sciences [q-bio]/Genetics/Human genetics030105 genetics & heredityBiologycomputer.software_genreGenomeExAC03 medical and health sciencesAnnotationincidental findingsGeneticsmedicineHumanspathogenicityGenetic Predisposition to Diseasetgfbr2ExomegenomeESPGenetics (clinical)Exome sequencing[INFO.INFO-BI] Computer Science [cs]/Bioinformatics [q-bio.QM]variantsDatabasethoracic aortic-aneurysmsGenome HumanHigh-Throughput Nucleotide SequencingMYLKGenomicspredictionmutations3. Good healthMarfan syndrome030104 developmental biologydissection[SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human geneticsCardiovascular DiseasesMutationMedical geneticsIdentification (biology)LSDB[INFO.INFO-BI]Computer Science [cs]/Bioinformatics [q-bio.QM]computerexome
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Epidemiology and outcomes of hospital-acquired bloodstream infections in intensive care unit patients: the EUROBACT-2 international cohort study.

2023

Purpose: In the critically ill, hospital-acquired bloodstream infections (HA-BSI) are associated with significant mortality. Granular data are required for optimizing management, and developing guidelines and clinical trials. Methods: We carried out a prospective international cohort study of adult patients (≥ 18 years of age) with HA-BSI treated in intensive care units (ICUs) between June 2019 and February 2021. Results: 2600 patients from 333 ICUs in 52 countries were included. 78% HA-BSI were ICU-acquired. Median Sequential Organ Failure Assessment (SOFA) score was 8 [IQR 5; 11] at HA-BSI diagnosis. Most frequent sources of infection included pneumonia (26.7%) and intravascular catheters…

antibiotic resistancebloodstream infectionhospital-acquiredbacteremiaCritical Care and Intensive Care Medicineantibiotic resistance ; bacteremia ; bloodstream infection ; hospital-acquired.
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Genome-wide meta-analysis identifies six novel loci associated with habitual coffee consumption

2015

Contains fulltext : 155360.pdf (Publisher’s version ) (Closed access) Coffee, a major dietary source of caffeine, is among the most widely consumed beverages in the world and has received considerable attention regarding health risks and benefits. We conducted a genome-wide (GW) meta-analysis of predominately regular-type coffee consumption (cups per day) among up to 91,462 coffee consumers of European ancestry with top single-nucleotide polymorphisms (SNPs) followed-up in ~30 062 and 7964 coffee consumers of European and African-American ancestry, respectively. Studies from both stages were combined in a trans-ethnic meta-analysis. Confirmed loci were examined for putative functional and b…

INVOLVEMENTNetherlands Twin Register (NTR)GCKR protein humanPROTEINGenome-wide association studyVARIANTSgenetics [Brain-Derived Neurotrophic Factor]chemistry.chemical_compound0302 clinical medicinePolymorphism (computer science)genetics [Adaptor Proteins Signal Transducing]BINDINGBRAINGenetics0303 health sciencesBasic Helix-Loop-Helix Leucine Zipper Transcription FactorsDisorders of movement Donders Center for Medical Neuroscience [Radboudumc 3]3. Good healthPsychiatry and Mental healthPhenotypegenetics [Polymorphism Single Nucleotide]/dk/atira/pure/sustainabledevelopmentgoals/good_health_and_well_beinggenetics [Cytochrome P-450 CYP1A2]CaffeineCAFFEINESingle-nucleotide polymorphismBiologyArticle03 medical and health sciencesCellular and Molecular NeuroscienceSDG 3 - Good Health and Well-beingCytochrome P-450 CYP1A2/dk/atira/pure/keywords/cohort_studies/netherlands_twin_register_ntr_SNPHumansddc:610Allelegenetics [Basic Helix-Loop-Helix Leucine Zipper Transcription Factors]Molecular Biology030304 developmental biologyAdaptor Proteins Signal TransducingMLXIPL protein humanRECEPTORBrain-Derived Neurotrophic FactorCoffeata1182Feeding Behaviorbiology.organism_classificationta3124BDNFchemistryBehavioral medicineDevelopmental Psychopathology030217 neurology & neurosurgeryGLUCOKINASEmetabolism [Coffea]Genome-Wide Association StudyMolecular Psychiatry
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Different epidemiology of bloodstream infections in COVID-19 compared to non-COVID-19 critically ill patients: a descriptive analysis of the Eurobact…

2022

Funder: European society of Intensive Care Medicine

Malebloodstream infections:Other subheadings::Other subheadings::/epidemiology [Other subheadings]Critical IllnessCOVID-19 (Malaltia) - EpidemiologiaRESISTANT ENTEROCOCCIBacteremiaBloodstream infectionCritical Care and Intensive Care Medicine:Pathological Conditions Signs and Symptoms::Pathologic Processes::Disease Attributes::Critical Illness [DISEASES]Cohort Studies:afecciones patológicas signos y síntomas::procesos patológicos::atributos de la enfermedad::enfermedad crítica [ENFERMEDADES]Sepsis:virosis::infecciones por virus ARN::infecciones por Nidovirales::infecciones por Coronaviridae::infecciones por Coronavirus [ENFERMEDADES]Medicine and Health SciencesHumansNCT03937245Unitats de cures intensivesAgedCross InfectionMalalties bacterianes:infecciones bacterianas y micosis::infección::infección hospitalaria [ENFERMEDADES]Research:Otros calificadores::Otros calificadores::/epidemiología [Otros calificadores]Bacteremia; Bloodstream infection; COVID-19; Enterococcus; ICU-acquiredCOVID-19:Virus Diseases::RNA Virus Infections::Nidovirales Infections::Coronaviridae Infections::Coronavirus Infections [DISEASES]:Bacterial Infections and Mycoses::Infection::Cross Infection [DISEASES]Intensive Care UnitsNCTICURNAICU-acquiredEnterococcus
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