Search results for "Predisposition"

showing 10 items of 771 documents

Intergenerational continuity in parents’ and adolescents’ externalizing problems: The role of life events and their interaction with GABRA2.

2015

We examine whether parental externalizing behavior has an indirect effect on adolescent externalizing behavior via elevations in life events, and whether this indirect effect is further qualified by an interaction between life events and adolescents’ GABRA2 genotype (rs279871). We use data from 2 samples: the Child Development Project (CDP; n = 324) and FinnTwin12 (n = 802). In CDP, repeated measures of life events, mother-reported adolescent externalizing, and teacher-reported adolescent externalizing were used. In FinnTwin12, life events and externalizing were assessed at age 14. Parental externalizing was indexed by measures of antisocial behavior and alcohol problems or alcohol dependen…

MaleParentsExternalizationAdolescentGenotypeTwinsPolymorphism Single NucleotideArticleDevelopmental psychologyLife Change EventsLife eventsmedicineHumansGenetic Predisposition to DiseaseParent-Child RelationsChildta515AllelesBiological PsychiatryAggressionAntisocial personality disorderAlcohol dependenceAntisocial Personality DisorderReceptors GABA-Amedicine.diseaseModerationChild developmentTwin studyGene-environment interactionExternalizingAggressionAlcoholismIntergenerational continuityClinical PsychologyPsychiatry and Mental healthGABRA2FemaleGene-Environment Interactionmedicine.symptomPsychologyPsychopathologyJournal of Abnormal Psychology
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A multi-centre clinico-genetic analysis of the VPS35 gene in Parkinson disease indicates reduced penetrance for disease-associated variants

2012

Abstract: Background Two recent studies identified a mutation (p.Asp620Asn) in the vacuolar protein sorting 35 gene as a cause for an autosomal dominant form of Parkinson disease. Although additional missense variants were described, their pathogenic role yet remains inconclusive. Methods and results We performed the largest multi-center study to ascertain the frequency and pathogenicity of the reported vacuolar protein sorting 35 gene variants in more than 15,000 individuals worldwide. p.Asp620Asn was detected in 5 familial and 2 sporadic PD cases and not in healthy controls, p.Leu774Met in 6 cases and 1 control, p.Gly51Ser in 3 cases and 2 controls. Overall analyses did not reveal any sig…

MaleParkinson's diseasePopulationVesicular Transport ProteinsLocus (genetics)DiseaseBiologyVPS35 protein humanBioinformaticsgenetics [Vesicular Transport Proteins]genetics [Parkinson Disease]Risk Factorsmedicinemetabolism [Vesicular Transport Proteins]GeneticsMissense mutationVPS35 GeneHumansGenetic epidemiologyGenetic Predisposition to Diseaseddc:6101506Genome-wideeducationGenetics (clinical)Genetic Association StudiesGeneticsVacuolar protein sortingeducation.field_of_studyGenotype-Phenotype CorrelationsParkinson DiseaseComplex traitsmedicine.diseasePenetranceddc:MutationFemaleHuman medicineParkinson-s diseaseJournal of Medical Genetics
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Associations of rs3918242 and rs2285053 MMP-9 and MMP-2 polymorphisms with the risk, severity, and short- and long-term complications of degenerative…

2016

Abstract Background Degenerative forms of mitral valve diseases (MVDs) are very complex pathologies. Thus, it is difficult to make generalizations about the disease pathways or genetic risk factors contributing to these diseases. However, a key role of metalloproteinases (MMPs) in their pathophysiology is emerging. Thus, we performed for the first time a perspective study to assess eventual associations of some functional single nucleotide polymorphisms (SNPs) in MMP-2 and MMP-9 genes with the MVD risk, symptom severity, and short- and long-term (4.8 years) complications. Materials and methods For this purpose, 90 patients and two control groups were genotyped for rs3918242, rs243865, and r…

MalePathologyHeart Valve DiseasesDisease030204 cardiovascular system & hematologyMatrix metalloproteinasers3918242 rs243865 rs2285053 MMP-2 and MMP-9 gene SNPDegenerative forms of mitral valve diseases; Management and outcome; Metalloproteinases; rs3918242 rs243865 rs2285053 MMP-2 and MMP-9 gene SNPs; Aged; Cohort Studies; Female; Genetic Predisposition to Disease; Genotype; Heart Valve Diseases; Humans; Male; Matrix Metalloproteinase 2; Matrix Metalloproteinase 9; Middle Aged; Mitral Valve; Prospective Studies; Risk Factors; Polymorphism Single Nucleotide0403 veterinary scienceCohort Studies0302 clinical mediciners2285053 MMP-2 and MMP-9 gene SNPsRisk FactorsGenotypeManagement and outcomeNatriuretic peptideProspective StudiesProspective cohort studyMVDSMetalloproteinaseDegenerative forms of mitral valve diseases04 agricultural and veterinary sciencesGeneral MedicineSingle NucleotideMiddle AgedMetalloproteinasesPathophysiologyMatrix Metalloproteinase 9Matrix Metalloproteinase 2Mitral ValveFemalers3918242Cardiology and Cardiovascular MedicineDegenerative forms of mitral valve diseasemedicine.medical_specialtyGenotype040301 veterinary sciencesmedicine.drug_class2734Single-nucleotide polymorphismDegenerative forms of mitral valve diseases; Management and outcome; Metalloproteinases; rs3918242 rs243865 rs2285053 MMP-2 and MMP-9 gene SNPs; Cardiology and Cardiovascular Medicine; 2734Polymorphism Single NucleotidePathology and Forensic Medicine03 medical and health sciencesInternal medicinemedicineHumansGenetic Predisposition to Diseasers243865PolymorphismAgedbusiness.industrySettore MED/23 - Chirurgia Cardiacabusiness
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Role of TGF-β Pathway Polymorphisms in Sporadic Thoracic Aortic Aneurysm: rs900 TGF-β2 Is a Marker of Differential Gender Susceptibility

2013

Thoracic aortic aneurysm (TAA) is a progressive disorder involving gradual dilation of ascending and/or descending thoracic aorta with dissection or rupture as complications. It occurs as sporadic or defined syndromes/familial forms.Genetic, molecular and cellular mechanims of sporadic TAA forms are poorly characterized and known. Thus, our interest has been focused on investigating the role of genetic variants of transforming growth factor-β(TGF-β) pathways in TAA risk. On the other hand, no data on the role of genetic variants of TGF-βpathway in sporadic TAA exist until now. In addition, other cytokines, including IL-10, orchestrate TAA pathophysiology. Their balance determines the ultima…

MalePathologyThoracicGene FrequencyProtein IsoformsThoracic aortaReceptorSingle Nucleotidesporadic TAAAdult; Aged; Aortic Aneurysm Thoracic; Female; Gene Frequency; Genotype; Humans; Interleukin-10; Male; Middle Aged; Protein Isoforms; Regression Analysis; Sex Factors; Transforming Growth Factor beta2; Genetic Predisposition to Disease; Polymorphism Single NucleotideMiddle AgedPathophysiologyAortic AneurysmInterleukin-10Interleukin 10Regression AnalysisFemaleInflammationResearch Articlelcsh:RB1-214TGF-beta SNPAdultmedicine.medical_specialtyArticle SubjectGenotypeImmunologyBiologyPolymorphism Single NucleotideThoracic aortic aneurysmcomplex mixturesTransforming Growth Factor beta2Sex Factorsmedicine.arteryparasitic diseasesmedicinelcsh:PathologyHumansSNPSettore MED/05 - Patologia ClinicaGenetic Predisposition to DiseasePolymorphismAllele frequencyAgedSettore MED/04 - Patologia GeneraleAortic Aneurysm ThoracicSettore MED/23 - Chirurgia CardiacaCell Biologymedicine.diseasedigestive system diseasesTransforming growth factorTGF-beta SNPs; sporadic TAA; InflammationMediators of Inflammation
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BRAF-V600E expression in precursor versus differentiated dendritic cells defines clinically distinct LCH risk groups.

2014

BRAF-V600E expression is identified in hematopoietic progenitor and precursor myeloid dendritic cells in patients with high-risk LCH, and enforced expression of BRAF-V600E in CD11c+ cells recapitulates a high-risk LCH-like phenotype in mice.

MalePathologyendocrine system diseasesCellular differentiationCD34Antigens CD34Mice0302 clinical medicineLangerhans cell histiocytosisBone MarrowRisk FactorsImmunology and Allergyskin and connective tissue diseasesChild0303 health sciencesCell Differentiation3. Good healthHistiocytosismedicine.anatomical_structurePhenotypeTreatment Outcome030220 oncology & carcinogenesisChild PreschoolAntigens Surface2723 Immunology and AllergyFemaleProto-Oncogene Proteins B-rafmedicine.medical_specialtyImmunologyCD11c610 Medicine & healthBiologyArticle03 medical and health sciencesGermline mutationmedicineAnimalsHumansCell LineageGenetic Predisposition to DiseaseLectins C-TypeProgenitor cellneoplasms030304 developmental biology2403 ImmunologyHistocompatibility Antigens Class II302InfantCorrectionDendritic Cellsmedicine.diseaseHematopoietic Stem Cellsdigestive system diseasesCD11c Antigenenzymes and coenzymes (carbohydrates)Histiocytosis Langerhans-CellMannose-Binding Lectins10032 Clinic for Oncology and HematologyMutationBone marrowThe Journal of experimental medicine
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Hereditary cerebral hemorrhage with amyloidosis associated with the E693K mutation of APP

2010

Objective To report the clinical, genetic, neuroimaging, and neuropathologic studies of patients with the hereditary cerebral hemorrhage with amyloidosis linked to the APP E693K mutation. Design Case series. Clinical details and laboratory results were collected by direct evaluation and previous medical records. DNA analysis was carried out in several affected subjects and healthy individuals. Neuropathologic examination was performed in 2 subjects. Setting Southern Lombardy, Italy. Patients Individuals with and without amyloidosis in 4 unrelated Italian families (N = 37). Main Outcome Measure Genotype-phenotype relationship. Results The affected individuals presented with recurrent headach…

MalePathologymedicine.medical_specialtySubarachnoid hemorrhageGenotypeApolipoprotein E4Glutamic AcidNeuropathologyAmyloid beta-Protein PrecursorGene FrequencyArts and Humanities (miscellaneous)medicineHumansGenetic Predisposition to DiseaseCognitive declineAgedCerebral HemorrhageFamily HealthAmyloid beta-Peptidesbusiness.industryLysineAmyloidosisLeukoaraiosisAutosomal dominant traitMiddle Agedmedicine.diseaseMagnetic Resonance ImagingPeptide FragmentsItalyHemosiderinMutationHereditary cerebral hemorrhage with amyloidosisFemaleNeurology (clinical)businessAmyloidosis FamilialGenome-Wide Association Study
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Etiological heterogeneity and clinical variability in newborns with esophageal atresia

2018

Abstract Background The aim of this study was to define different characteristics of infants with esophageal atresia and correlations with neonatal level of care, morbidity and mortality occurring during hospital stay. Methods Charts of all newborns with esophageal atresia (EA) admitted to our University NICU between January 2003 and November 2016 were reviewed and subdivided in four groups related to different clinical presentations; EA as an isolated form (A), with a concomitant single malformation (B), as VACTERL association (C), and in the context of a syndrome or an entity of multiple congenital anomalies (D). Results We recruited 67 infants with EA (with or without tracheoesophageal f…

MalePediatricsDatabases FactualAnal CanalTracheoesophageal fistulaKidneyCohort StudiesVACTERL association0302 clinical medicineMedicine030212 general & internal medicineHospital Mortalitylcsh:RJ1-570General MedicinePrognosisVACTERL associationTracheaRetrospective studyFemaleNeonatal intensive careRetrospective study Esophageal atresia VACTERL association Neonatal intensive care NewbornHeart Defects Congenitalmedicine.medical_specialtyLimb Deformities CongenitalContext (language use)Gestational AgeRisk Assessment03 medical and health sciencesEsophagus030225 pediatricsIntensive careIntensive Care Units NeonatalHumansAbnormalities MultipleGenetic Predisposition to DiseaseRetrospective Studiesbusiness.industryResearchInfant NewbornRetrospective cohort studylcsh:PediatricsLength of Staymedicine.diseaseNewbornSurvival AnalysisSpineParenteral nutritionAtresiaEsophageal atresiaEtiologybusiness
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Individual analysis of patients with HoFH participating in a phase 3 trial with lomitapide: The Italian cohort

2015

Abstract Background and aims The efficacy and safety of lomitapide as adjunct treatment for adults with homozygous familial hypercholesterolaemia (HoFH) have been confirmed in a phase 3 trial. Given the small number of patients (N = 29), and variations in patient characteristics, examining individual cases provides additional details regarding patient management with lomitapide. Here, we examine the details of the Italian patient cohort in the phase 3 trial. Methods and results The methodology of the multinational, single-arm, open-label, 78-week, dose-escalation, phase 3 trial has been previously reported. The current report details the Italian cohort of six patients (three males, three fe…

MalePediatricsTime FactorsSettore MED/09 - Medicina InternaEndocrinology Diabetes and MetabolismHoFHMedicine (miscellaneous)030204 cardiovascular system & hematologychemistry.chemical_compound0302 clinical medicineEndocrinologyReceptorsNutrition and DieteticMedicine030212 general & internal medicineFamilial hypercholesterolaemia; FH; HoFH; Homozygous familial hypercholesterolaemia; Lomitapide; Therapy; Medicine (miscellaneous); Nutrition and Dietetics; Endocrinology Diabetes and Metabolism; Cardiology and Cardiovascular MedicineFH; Familial hypercholesterolaemia; HoFH; Homozygous familial hypercholesterolaemia; Lomitapide; Therapy; Adolescent; Adult; Anticholesteremic Agents; Benzimidazoles; Biomarkers; Cholesterol LDL; Female; Genetic Predisposition to Disease; Humans; Hyperlipoproteinemia Type II; Italy; Male; Middle Aged; Phenotype; Receptors LDL; Time Factors; Treatment Outcome; Young Adult; Heterozygote; MutationNutrition and DieteticsAnticholesteremic AgentsMiddle AgedPatient managementDiabetes and MetabolismCholesterolPhenotypeTreatment OutcomeTolerabilityItalyCohortPopulation studyFemaleFamilial hypercholesterolaemiaCardiology and Cardiovascular MedicineAdultmedicine.medical_specialtyHeterozygoteAdolescentSocio-culturaleFHLDLHyperlipoproteinemia Type II03 medical and health sciencesIndividual analysisYoung AdultHomozygous familial hypercholesterolaemiaHumansGenetic Predisposition to DiseaseAdverse effectbusiness.industryCholesterol LDLLomitapideLomitapideClinical trialchemistryReceptors LDLMutationBenzimidazolesTherapybusinessBiomarkers
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Cross-sectional comparison of the characteristics of respiratory allergy in immigrants and Italian children.

2014

Background: Immigrants represent a good epidemiological model to evaluate the relative influence of environmental and inherited factors on the development of allergy. Several studies on allergy in adults have been published, but few data in children are available. We aimed to investigate the differences, between Italian and immigrant children, in clinical characteristics of respiratory allergy. Methods: This was a multicentre cross-sectional study involving children born in Italy from Italian parents and children born either in Italy or abroad from immigrants. Children referred firstly for allergic respiratory disease (rhinitis/asthma), with an ascertained clinical diagnosis and IgE sensiti…

MalePediatricsmedicine.medical_specialtyAllergyAdolescentmedia_common.quotation_subjectImmunologyImmigrationAllergic asthmaEmigrants and ImmigrantsDiseaseEpidemiologyAllergic rhinitimedicineEthnicityRespiratory HypersensitivityImmunology and AllergyHumansGenetic Predisposition to DiseaseChildChildrenmedia_commonAsthmabusiness.industryRespiratory diseaseRespiratory allergyInfantmedicine.diseaseCross-Sectional StudiesItalyClinical diagnosisChild PreschoolPediatrics Perinatology and Child HealthFemalebusinessImmigrantPediatric allergy and immunology : official publication of the European Society of Pediatric Allergy and Immunology
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Gender-Dependent Effect of GSTM1 Genotype on Childhood Asthma Associated with Prenatal Tobacco Smoke Exposure

2014

It remains unclear whether the GSTM1 genotype interacts with tobacco smoke exposure (TSE) in asthma development. This study aimed to investigate the interactions among GSTM1 genotype, gender, and prenatal TSE with regard to childhood asthma development. In a longitudinal birth cohort in Taiwan, 756 newborns completed a 6-year follow-up, and 591 children with DNA samples available for GSTM1 genotyping were included in the study,and the interactive influences of gender-GSTM1 genotyping-prenatal TSE on childhood asthma development were analyzed. Among these 591 children, 138 (23.4%) hadphysician-diagnosed asthmaat 6 years of age, and 347 (58.7%) werenull-GSTM1. Prenatal TSE significantly incre…

MalePediatricsmedicine.medical_specialtyArticle Subjectanimal diseasesTaiwanlcsh:MedicineComorbidityLower riskPolymorphism Single NucleotideGeneral Biochemistry Genetics and Molecular BiologyPregnancyRisk FactorsGenotypePrevalencemedicineHumansGenetic Predisposition to DiseaseSex DistributionChildneoplasmsGenotypingGlutathione TransferaseAsthmaChildhood asthmaintegumentary systemGeneral Immunology and Microbiologybusiness.industrylcsh:RTobacco smoke exposureInfant NewbornInfantTotal igeGeneral Medicinemedicine.diseaseAsthmanervous system diseasesCausalityChild PreschoolPrenatal Exposure Delayed EffectsFemaleTobacco Smoke PollutionbusinessBirth cohortResearch ArticleBioMed Research International
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