Search results for " case"

showing 10 items of 871 documents

Meta-analysis identifies novel risk loci and yields systematic insights into the biology of male-pattern baldness

2017

Male-pattern baldness (MPB) is a common and highly heritable trait characterized by androgen-dependent, progressive hair loss from the scalp. Here, we carry out the largest GWAS meta-analysis of MPB to date, comprising 10,846 early-onset cases and 11,672 controls from eight independent cohorts. We identify 63 MPB-associated loci (P<5 × 10−8, METAL) of which 23 have not been reported previously. The 63 loci explain ∼39% of the phenotypic variance in MPB and highlight several plausible candidate genes (FGF5, IRF4, DKK2) and pathways (melatonin signalling, adipogenesis) that are likely to be implicated in the key-pathophysiological features of MPB and may represent promising targets for the de…

0301 basic medicineMaleCandidate genegenetics [Trans-Activators]SRD5A2 protein humanMedizinGeneral Physics and Astronomygenetics [3-Oxo-5-alpha-Steroid 4-Dehydrogenase]Genome-wide association studyBioinformatics0302 clinical medicinegenetics [Interferon Regulatory Factors]GenotypeMelatoninGeneticsMultidisciplinaryAdipogenesisEBF1 protein humanintegumentary systemgenetics [Intercellular Signaling Peptides and Proteins]QPhenotypeFGF5 protein humangenetics [Membrane Proteins]Phenotype030220 oncology & carcinogenesisMeta-analysisUrological cancers Radboud Institute for Health Sciences [Radboudumc 15]Interferon Regulatory FactorsIntercellular Signaling Peptides and ProteinsMale-pattern baldnessddc:500Signal TransductionDKK2 protein humanGenotypeFibroblast Growth Factor 53-Oxo-5-alpha-Steroid 4-Dehydrogenase/genetics; Adipogenesis/genetics; Alopecia/genetics; Case-Control Studies; Fibroblast Growth Factor 5/genetics; Genetic Association Studies; Genome-Wide Association Study; Genotype; Humans; Intercellular Signaling Peptides and Proteins/genetics; Interferon Regulatory Factors/genetics; Male; Melatonin; Membrane Proteins/genetics; Phenotype; Signal Transduction/genetics; Trans-Activators/geneticsScienceGenomicsBiologygenetics [Signal Transduction]General Biochemistry Genetics and Molecular BiologyArticle03 medical and health sciencesinterferon regulatory factor-43-Oxo-5-alpha-Steroid 4-DehydrogenasemedicineHumansgenetics [Adipogenesis]Genetic Association Studiesgenetics [Alopecia]Case-control studyMembrane ProteinsAlopeciaGeneral Chemistrymedicine.diseasegenetics [Fibroblast Growth Factor 5]030104 developmental biologyCase-Control StudiesTrans-ActivatorsGenome-Wide Association Study
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The effectiveness of influenza vaccination in preventing hospitalisations of elderly individuals in two influenza seasons: a multicentre case-control…

2017

Influenza vaccination may limit the impact of influenza in the community. The aim of this study was to assess the effectiveness of influenza vaccination in preventing hospitalisation in individuals aged ≥ 65 years in Spain. A multicentre case–control study was conducted in 20 Spanish hospitals during 2013/14 and 2014/15. Patients aged ≥ 65 years who were hospitalised with laboratory-confirmed influenza were matched with controls according to sex, age and date of hospitalisation. Adjusted vaccine effectiveness (VE) was calculated by multivariate conditional logistic regression. A total of 728 cases and 1,826 matched controls were included in the study. Overall VE was 36% (95% confidence inte…

0301 basic medicineMaleEpidemiologyLaboratory-confirmed influenzaPreventing hospitalisationsUnited-statesmatched case–controlScreening method0302 clinical medicineInfluenza A Virus H1N1 SubtypeOutcome Assessment Health Care030212 general & internal medicineAged 80 and overVaccinationAucklandVaccinationHospitalizationImpactInfluenza VaccinesPopulation SurveillanceConditional logistic regressionFemalehospitalised cases hospitalised controlsSeasonsinfluenzaResearch Articlemedicine.medical_specialtyPopulation030106 microbiologyeffectivenesselderly03 medical and health sciencesNavarreNew-zealandVirologyInternal medicineInfluenza HumanmedicineHumansIn patientVaccine PotencyAgedbusiness.industryInfluenza A Virus H3N2 SubtypePublic Health Environmental and Occupational HealthCase-control studyInfluenza aConfidence intervalSurgeryInfluenza vaccinationLogistic ModelsSpainCase-Control StudiesElderly individualsbusiness
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A possible role of FANCM mutations in male breast cancer susceptibility: Results from a multicenter study in Italy

2018

Abstract Introduction Breast cancer (BC) in men is a rare disease, whose etiology appears to be associated with genetic factors. Inherited mutations in BRCA1/2 genes account for about 10–15% of all cases. FANCM, functionally linked to BRCA1/2, has been suggested as a novel BC susceptibility gene. Our aim was to test if FANCM germline mutations could further explain male BC (MBC) susceptibility. Methods We screened the entire coding region of FANCM in 286 MBCs by a multi-gene panel analysis, and compared these data with available whole exome sequencing data from 415 men used as population controls. Moreover, we genotyped the two most frequent FANCM mutations (c.5101C>T and c.5791C>T) in 506 …

0301 basic medicineMaleMutation rateSettore MED/06 - Oncologia MedicaDNA Helicasemedicine.disease_causeBRCA1/2; Breast cancer susceptibility; FANCM; Germline mutations; Male breast cancer; Adult; Aged; Aged 80 and over; Biomarkers Tumor; Breast Neoplasms Male; Case-Control Studies; DNA Helicases; Genetic Predisposition to Disease; Genotype; Germ-Line Mutation; Humans; Italy; Male; Middle Aged; Risk Factors; Whole Genome Sequencing; Young Adult; Surgery0302 clinical medicineFANCMRisk Factorshemic and lymphatic diseasesGermline mutationGenotypeBRCA1/2; Breast cancer susceptibility; FANCM; Germline mutations; Male breast cancer; SurgeryFANCMMutation frequencyGeneticsAged 80 and overeducation.field_of_studyMutationGeneral MedicineMiddle AgedItaly030220 oncology & carcinogenesisMale breast cancerCase-Control StudieHumanAdultcongenital hereditary and neonatal diseases and abnormalitiesGenotypePopulationBreast Neoplasms Male03 medical and health sciencesYoung AdultGermline mutationBRCA1/2medicineBiomarkers TumorHumansGenetic Predisposition to DiseaseeducationGermline mutationsGerm-Line MutationAgedBreast cancer susceptibilityWhole Genome Sequencingbusiness.industryRisk FactorDNA Helicasesnutritional and metabolic diseasesmedicine.diseaseMale breast cancer030104 developmental biologyCase-Control StudiesSurgerybusiness
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Interim 2017/18 influenza seasonal vaccine effectiveness: combined results from five European studies

2018

Between September 2017 and February 2018, influenza A(H1N1)pdm09, A(H3N2) and B viruses (mainly B/Yamagata, not included in 2017/18 trivalent vaccines) co-circulated in Europe. Interim results from five European studies indicate that, in all age groups, 2017/18 influenza vaccine effectiveness was 25 to 52% against any influenza, 55 to 68% against influenza A(H1N1)pdm09, -42 to 7% against influenza A(H3N2) and 36 to 54% against influenza B. 2017/18 influenza vaccine should be promoted where influenza still circulates. Funding: The five studies have received funding from the European Union’s Horizon 2020 research and innovation programme under grant agreement No 634446 to conduct the study in…

0301 basic medicineMalePediatricsEpidemiologyvirusesInfluenza B viruinfluenza ; influenza vaccine effectiveness ; influenza vaccination ; case control study ; multicentre study ; EuropeEurope case control study influenza influenza vaccination influenza vaccine effectiveness multicentre study0302 clinical medicineInfluenza A Virus H1N1 Subtype[SDV.MHEP.MI]Life Sciences [q-bio]/Human health and pathology/Infectious diseasesInteriminfluenza vaccine effectivenessEpidemiologyPandemicInfluenza A Virus030212 general & internal medicineQAInfluenza vaccine effectivenessChildmedia_commonVaccine EffectivenessVaccinationvirus diseasesMiddle Agedinfluenza vaccinationmulticentre study3. Good healthVaccinationEuropeTreatment OutcomeInfluenza VaccinesChild PreschoolH3N2 SubtypeFemaleSeasonsInfluenza VaccineinfluenzaRapid CommunicationHumanAdultRMmedicine.medical_specialtyAdolescentInfluenza vaccine030106 microbiologyCase control studyMulticentre studyEuropean studiesSettore MED/07 - MICROBIOLOGIA E MICROBIOLOGIA CLINICA03 medical and health sciencesVirologyInfluenza Humanmedicinemedia_common.cataloged_instanceHumansH1N1 SubtypeVacina AntigripalEuropean UnionEuropean unionPreschoolPandemicsAgedPandemicInfluenza A Virus H3N2 SubtypeCuidados de SaúdePublic Health Environmental and Occupational HealthInfant NewbornInfantInfluenza ainfluenza vaccine effectivenecase control studyNewbornEurope; case control study; influenza; influenza vaccination; influenza vaccine effectiveness; multicentre studyInfluenzarespiratory tract diseasesInfluenza vaccinationInfluenza B virusEurope; case control study; influenza; influenza vaccination; influenza vaccine effectiveness; multicentre study; Adolescent; Adult; Aged; Child; Child Preschool; Europe; European Union; Female; Humans; Infant; Infant Newborn; Influenza A Virus H1N1 Subtype; Influenza A Virus H3N2 Subtype; Influenza B virus; Influenza Vaccines; Influenza Human; Male; Middle Aged; Pandemics; Treatment Outcome; Vaccination; Seasons[SDV.SPEE]Life Sciences [q-bio]/Santé publique et épidémiologieDeterminantes da Saúde e da Doença[SDV.IMM.VAC]Life Sciences [q-bio]/Immunology/Vaccinology
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The Impact of Lactobacillus casei on the Composition of the Cecal Microbiota and Innate Immune System Is Strain Specific

2016

The probiotic function to impact human health is thought to be related to their ability to alter the composition of the gut microbiota and modulate the human innate immune system. The ability to function as a probiotic is believed to be strain specific. Strains of Lactobacillus casei are commonly utilized as probiotics that when consumed alter the composition of the gut microbiota and modulate the host immune response. L. casei strains are known to differ significantly in gene content. The objective of this study was to investigate seven different L. casei strains for their ability to alter the murine gut microbiota and modulate the murine immune system. C57BL/6 mice were fed L. casei strai…

0301 basic medicineMalelcsh:MedicineGene ExpressionGut floraImmune ReceptorsBiochemistrylaw.inventionProbioticfluids and secretionslawLactobacillusMedicine and Health Scienceslcsh:ScienceCecumToll-like ReceptorsMultidisciplinaryImmune System Proteinsbiologydigestive oral and skin physiologyPattern recognition receptorGenomicsLacticaseibacillus caseiMedical MicrobiologyAnatomyResearch ArticleSignal TransductionLactobacillus casei030106 microbiologyImmunologyMicrobial Genomicsdigestive systemMicrobiologyMicrobiology03 medical and health sciencesImmune systemSpecies SpecificityGeneticsAnimalsHumansMicrobiomeInnate immune systemBacteriaProbioticslcsh:RGut BacteriaOrganismsBiology and Life SciencesProteinsCell Biologybiology.organism_classificationImmunity InnateGastrointestinal MicrobiomeGastrointestinal TractMice Inbred C57BLLactobacillus030104 developmental biologyImmunologylcsh:QMicrobiomeDigestive SystemPLoS ONE
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Delirium Predisposing and Triggering Factors in Nursing Home Residents: A Cohort Trial-Nested Case-Control Study.

2019

Background Delirium is a common geriatric syndrome, with a prevalence of between 15-70% among older long-term care residents. It is associated with adverse outcomes, and its onset may prove imperceptible to health professionals. Few studies in institutionalized older people have analyzed the predictors of delirium. Objective The aim of the present study was to identify delirium predisposing and triggering factors, and develop a predictive model. Methods A cohort trial-nested case-control study covering a period of 12 consecutive months (April 2015 - March 2016) was carried out. Predisposing and triggering episodes of delirium were recorded. Results A total of 443 older persons were recruite…

0301 basic medicineMalemedicine.medical_specialtymedicine.drug_classPsychological interventionCholinergic AntagonistsCohort Studies03 medical and health sciences0302 clinical medicinemental disordersAnticholinergicmedicineDementiaHomes for the AgedHumansAgedAged 80 and overbusiness.industryGeneral NeuroscienceIncidence (epidemiology)Area under the curveDeliriumGeneral Medicinemedicine.diseasePrecipitating FactorsNursing HomesPsychiatry and Mental healthClinical Psychology030104 developmental biologyCase-Control StudiesCohortNested case-control studyEmergency medicineDeliriumAccidental FallsDementiaFemaleGeriatrics and Gerontologymedicine.symptombusiness030217 neurology & neurosurgeryJournal of Alzheimer's disease : JAD
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The malate sensing two-component system MaeKR is a non-canonical class of sensory complex for C4-dicarboxylates

2017

16 páginas, 7 figuras, 2 tablas

0301 basic medicineModels MolecularAdenosine Triphosphate / metabolismProtein ConformationScienceMalatesBacterial proteins/chemistry/metabolism/geneticsPlasma protein bindingBiologyModels BiologicalArticleConserved sequence03 medical and health sciencesAdenosine TriphosphateBacterial ProteinsAdenosine Triphosphate / chemistryDicarboxylic AcidsProtein Interaction Domains and MotifsAmino Acid SequenceKinase activityPhosphorylationLactobacilus cassei/classification/physiologyMalates/metabolismPromoter Regions GeneticConserved SequencePhylogenyMultidisciplinaryQAutophosphorylationfungiRTwo-component regulatory systemResponse regulatorLacticaseibacillus casei030104 developmental biologyBiochemistryMedicineModelsbiologica/moleculPhosphorylationCconserved secuenceProtein MultimerizationBinding domainProtein BindingScientific Reports
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Total Hemi-overgrowth in Pigmentary Mosaicism of the (Hypomelanosis of) Ito Type: Eight Case Reports.

2016

Abstract Pigmentary mosaicism of the (hypomelanosis of) Ito type is an umbrella term, which includes phenotypes characterized by mosaic hypopigmentation in the form of streaks, whorls, patchy, or more bizarre skin configurations (running along the lines of Blaschko): these cutaneous patterns can manifest as an isolated skin disorder (pigmentary mosaicism of the Ito type) or as a complex malformation syndrome in association with extracutaneous anomalies (most often of the musculoskeletal and/or nervous systems) (hypomelanosis of Ito). Affected individuals are anecdotally reported to have also partial or total body hemi-overgrowth (HOG), which often causes moderate to severe complications. We…

0301 basic medicineModerate to severeAdultMalePathologymedicine.medical_specialtyAdolescentDevelopmental DisabilitiesContext (language use)030105 genetics & heredity03 medical and health sciences0302 clinical medicinemedicineHumansAbnormalities MultipleClinical Case ReportClinical phenotypeChildKyphoscoliosisPigmentation disorderHypopigmentationChromosome AberrationsHypopigmentationbusiness.industryMosaicismFollow up studiesTotal bodyGeneral Medicinemedicine.diseaseMagnetic Resonance Imaging6200Musculoskeletal Abnormalitieshypomelanosis Ito type Pigmentary mosaicism mosaic hypopigmentation childrenPhenotypeItalyChild PreschoolKaryotypingFemalemedicine.symptombusinessPigmentation Disorders030217 neurology & neurosurgeryResearch ArticleFollow-Up StudiesMedicine
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Harmonising and linking biomedical and clinical data across disparate data archives to enable integrative cross-biobank research

2015

A wealth of biospecimen samples are stored in modern globally distributed biobanks. Biomedical researchers worldwide need to be able to combine the available resources to improve the power of large-scale studies. A prerequisite for this effort is to be able to search and access phenotypic, clinical and other information about samples that are currently stored at biobanks in an integrated manner. However, privacy issues together with heterogeneous information systems and the lack of agreed-upon vocabularies have made specimen searching across multiple biobanks extremely challenging. We describe three case studies where we have linked samples and sample descriptions in order to facilitate glo…

0301 basic medicineNetherlands Twin Register (NTR)Databases FactualComputer scienceInformation Storage and RetrievalSample (statistics)Ontology (information science)Endocrinology and DiabetesBioinformaticscomputer.software_genredata archivesArticle03 medical and health sciencesSDG 17 - Partnerships for the GoalsSDG 3 - Good Health and Well-beingGenetics/dk/atira/pure/keywords/cohort_studies/netherlands_twin_register_ntr_Use casebiomedical dataGenetics (clinical)Biological Specimen BanksGenetics & Heredity0604 GeneticsBioinformatics (Computational Biology)ta112ta1184/dk/atira/pure/sustainabledevelopmentgoals/partnershipsData scienceBiobank3. Good healthcross-biotank research030104 developmental biologyProject planningExchange of informationDisparate systemPrivacyBioinformatik (beräkningsbiologi)/dk/atira/pure/sustainabledevelopmentgoals/good_health_and_well_beingclinical datacomputerData integrationEuropean Journal of Human Genetics
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Increased efficacy of stereotactic ablative radiation therapy after bevacizumab in lung oligometastases from colon cancer.

2018

Aim: Metastases from colorectal cancer are poorly responsive to stereotactic ablative radiation therapy (SABR) due to intratumoral hypoxia. Intratumoral oxygenation is improved by administration of angiogenesis inhibitors. Thus, there could be a clinical synergistic effect of SABR with bevacizumab on metastases from colorectal cancer. The aim of this study was to evaluate the feasibility and efficacy of SABR after bevacizumab in lung oligometastases from colon cancer. Methods: The data of patients with lung metastases from colon cancer who underwent SABR were retrospectively evaluated according to the following inclusion criteria: number of metastases ≤3; lung oligometastases from colon can…

0301 basic medicineOncologyCancer Researchmedicine.medical_specialtyLung NeoplasmsBevacizumabColorectal cancermedicine.medical_treatmentSABR volatility modelRadiosurgery03 medical and health sciences0302 clinical medicineInternal medicineAblative casemedicineHumansAgedRetrospective StudiesLungbusiness.industryGeneral MedicineOxygenationMiddle Agedmedicine.diseaseCombined Modality TherapyRadiation therapyBevacizumab030104 developmental biologymedicine.anatomical_structureOncology030220 oncology & carcinogenesisColonic Neoplasmsbusinessmedicine.drugTumori
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