Search results for "ISR"

showing 10 items of 525 documents

20 ans après: a second mutation in MAOA identified by targeted high-throughput sequencing in a family with altered behavior and cognition

2013

Intellectual disability (ID) is characterized by an extraordinary genetic heterogeneity, with >250 genes that have been implicated in monogenic forms of ID. Because this complexity precluded systematic testing for mutations and because clinical features are often non-specific, for some of these genes only few cases or families have been unambiguously documented. It is the case of the X-linked gene encoding monoamine oxidase A (MAOA), for which only one nonsense mutation has been identified in Brunner syndrome, characterized in a single family by mild non-dysmorphic ID and impulsive, violent and aggressive behaviors. We have performed targeted high-throughput sequencing of 220 genes, includi…

MaleModels MolecularBrunner syndromeNonsense mutationMutation MissenseArticleIntellectual DisabilityGeneticsmedicineMissense mutationHumansGenetic Predisposition to DiseaseAmino Acid SequenceMonoamine OxidaseGenetics (clinical)GeneticsFamily HealthbiologyBase SequenceGenetic heterogeneityPoint mutationHigh-Throughput Nucleotide Sequencingmedicine.diseasePedigreeProtein Structure TertiaryAutism spectrum disorderAttention Deficit and Disruptive Behavior DisordersChild Development Disorders Pervasivebiology.proteinAutismFemaleMonoamine oxidase A
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International Physical Activity and Built Environment Study of Adolescents : IPEN Adolescent design, protocol and measures

2021

IntroductionOnly international studies can provide the full variability of built environments and accurately estimate effect sizes of relations between contrasting environments and health-related outcomes. The aims of the International Physical Activity and Environment Study of Adolescents (IPEN Adolescent) are to estimate the strength, shape and generalisability of associations of the community environment (geographic information systems (GIS)-based and self-reported) with physical activity and sedentary behaviour (accelerometer-measured and self-reported) and weight status (normal/overweight/obese).Methods and analysisThe IPEN Adolescent observational, cross-sectional, multicountry study …

MaleNEIGHBORHOOD ENVIRONMENTstatistics & research methodsWalkingOverweightCardiovascularOral and gastrointestinal0302 clinical medicineresearch methodsBelgiumResidence CharacteristicsInformed assentResearch MethodsMedicine and Health SciencesMedicineSOCIOECONOMIC-STATUS030212 general & internal medicine1506IsraelBuilt EnvironmentAetiologyChildBuilt environmentCzech RepublicCancerPediatricBangladeshpublic healthSEDENTARY BEHAVIORGeneral MedicineStrokeYOUTHWalkabilityRELIABILITYPublic Health and Health ServicesHong KongFemaleepidemiologySCHOOL-AGED CHILDRENHEALTHPSYCHOSOCIAL FACTORSmedicine.symptomsocial and economic factorsBrazilPediatric Research InitiativeAdolescentInternational studiesClinical SciencesNigeriaIndiapreventive medicine03 medical and health sciencesYoung Adult2.3 PsychologicalEnvironmental healthHumansObesitySocioeconomic statusExerciseMetabolic and endocrineNutritionOBJECTIVE ASSESSMENTWALKABILITY SCALEOther Medical and Health SciencesPortugalbusiness.industry1730PreventionMalaysiaAustralia030229 sport sciencesCross-Sectional StudiesSpainSurvey data collectionObservational studyEnvironment Designstatistics &ampbusinessNew Zealand
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Prevalence and comorbidity of eating disorders among a community sample of adolescents: 2-year follow-up

2015

The previous literature about comorbidity between eating disorders (ED) and other DSM-IV psychiatric disorders in adolescence has employed cross-sectional studies with clinical samples, where the comorbid disorders were diagnosed retrospectively. The present study aims to overcome these limitations by the analysis of comorbidity in a community population during 2-year follow-up. A semi-structured interview was applied to a teenager sample. Firstly, a cross-sectional and nonrandomized study on psychiatric morbidity was conducted with 993 teenagers between the ages of 12 and 16 from five schools. Secondly, 326 students between 14 and 17 years old of one school were reassessed 2 years later in…

MaleObsessive-Compulsive Disordermedicine.medical_specialtyAdolescentEpidemiologyComorbidityFeeding and Eating DisordersPrevalence of mental disordersEpidemiology of child psychiatric disordersEpidemiologyPrevalencemedicineHumansAttention deficit hyperactivity disorderLongitudinal StudiesProspective StudiesChildPsychiatryBiological Psychiatrymedicine.diseaseAnxiety DisordersComorbidityAdolescenceDiagnostic and Statistical Manual of Mental DisordersPsychiatry and Mental healthEating disordersCross-Sectional StudiesAttention Deficit Disorder with HyperactivityAttention Deficit and Disruptive Behavior DisordersSpainOppositional defiantEating disordersAnxietyFemalemedicine.symptomPsychologyFollow-Up StudiesClinical psychologyPsychiatry Research
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The risky business of dopamine agonists in Parkinson disease and impulse control disorders

2011

Risk-taking behavior is characterized by pursuit of reward in spite of potential negative consequences. Dopamine neurotransmission along the mesocorticolimbic pathway is a potential modulator of risk behavior. In patients with Parkinson's disease (PD), impulse control disorder (ICD) can result from dopaminergic medication use, particularly dopamine agonists (DAA). Behaviors associated with ICD include hypersexuality as well as compulsive gambling, shopping, and eating, and these behaviors are potentially linked to alterations to risk processing. Using the Balloon Analogue Risk Task, we assessed the role of agonist therapy on risk-taking behavior in PD patients with (n = 22) and without (n =…

MaleOncologyAgonistmedicine.medical_specialtyImpulse control disordermedicine.drug_classDiseaseNeuropsychological TestsAffect (psychology)Severity of Illness IndexArticleBehavioral NeuroscienceRisk-TakingRisk FactorsDopamineInternal medicinemedicineHumansPsychiatryAgedDopaminergicParkinson DiseaseMiddle Agedmedicine.diseaseDisruptive Impulse Control and Conduct DisordersSexual Dysfunction PhysiologicalSexual dysfunctionDopamine AgonistsGamblingFemaleHypersexualitymedicine.symptomPsychologymedicine.drugBehavioral Neuroscience
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Prospective, open, multi-centre phase I/II trial to assess safety and efficacy of neoadjuvant radiochemotherapy with docetaxel and oxaliplatin in pat…

2013

Abstract Background This phase I/II-trial assessed the dose-limiting toxicities (DLT) and maximum tolerated dose (MTD) of neoadjuvant radiochemotherapy (RCT) with docetaxel and oxaliplatin in patients with locally advanced adenocarcinoma of the oesophagogastric junction. Methods Patients received neoadjuvant radiotherapy (50.4 Gy) together with weekly docetaxel (20 mg/m2 at dose level (DL) 1 and 2, 25 mg/m2 at DL 3) and oxaliplatin (40 mg/m2 at DL 1, 50 mg/m2 at DL 2 and 3) over 5 weeks. The primary endpoint was the DLT and the MTD of the RCT regimen. Secondary endpoints included overall response rate (ORR) and progression-free survival (PFS). Results A total of 24 patients were included. F…

MaleOncologyCancer ResearchTime FactorsEsophageal NeoplasmsOrganoplatinum Compoundsmedicine.medical_treatmentMedizinKaplan-Meier EstimateDocetaxellaw.inventionRandomized controlled triallawGermanyProspective StudiesIsraelProspective cohort studyNeoadjuvant therapyChemoradiotherapyMiddle Agedlcsh:Neoplasms. Tumors. Oncology. Including cancer and carcinogensNeoadjuvant TherapyOxaliplatinOesophagogastric cancer oxaliplatinTreatment OutcomeDocetaxelOncologyNeoadjuvant radiochemotherapyAdenocarcinomaFemaleTaxoidsEsophagogastric JunctiontherapeuticsResearch Articlemedicine.drugAdultmedicine.medical_specialtyMaximum Tolerated DoseAntineoplastic AgentsAdenocarcinomalcsh:RC254-282Disease-Free SurvivalStomach NeoplasmsInternal medicinemedicineGeneticsHumansddc:610neoplasmsAgedDose-Response Relationship Drugbusiness.industryChemoradiotherapy Adjuvantmedicine.diseasedigestive system diseasesOxaliplatinClinical trialbusinessChemoradiotherapy
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Occupational solvent exposure and risk of glioma in the INTEROCC study

2017

BACKGROUND: The aetiology of glioma remains largely unknown. Occupational solvent exposure has been suggested as a putative cause of glioma, but past studies have been inconsistent. We examined the association between a range of solvents and glioma risk within the INTEROCC project, a study of brain tumours and occupational exposures based on data from seven national case-control studies conducted in the framework of the INTERPHONE study. We also investigated associations according to tumour grade.METHODS: Data from the seven countries were standardised and then combined into one aggregate data set. Pooled odds ratios (ORs) were estimated for adjusted models that included sex, age, country-r…

MaleOncologyMESH: United KingdomCancer ResearchEpidemiology[SDV]Life Sciences [q-bio]MESH: Neoplasm GradingMESH: SolventsMESH: Occupational ExposureMESH: GliomaTumor gradechemistry.chemical_compound0302 clinical medicineRisk FactorsMESH: New ZealandMESH: Risk FactorsGermanyOdds RatioIsraelYoung adultMESH: AgedOccupationMESH: Middle AgedBrain NeoplasmsAge FactorsMESH: IsraelGliomaMiddle Aged030210 environmental & occupational healthMESH: Case-Control Studies3. Good healthOncologyMESH: Young Adult030220 oncology & carcinogenesisSolventMESH: Brain NeoplasmsFemaleFranceAdultCanadamedicine.medical_specialtyAdolescentCase–control studyJob-exposure matrixMESH: AustraliaYoung Adult03 medical and health sciencesSex FactorsMESH: Sex FactorsMESH: CanadaOccupational ExposureInternal medicineGliomamedicineJournal ArticleHumansMESH: GermanyAgedMESH: AdolescentMESH: Age FactorsMESH: Humansbusiness.industryAustraliaCase-control studyMESH: AdultOdds ratiomedicine.diseaseUnited KingdomConfidence intervalMESH: MaleMESH: Odds RatioMESH: FrancechemistryCase-Control StudiesSolventsNeoplasm GradingSolvent exposurebusinessMESH: FemaleNew Zealand
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Psychosocial adjustment and quality of life after renal transplantation in early childhood.

2004

Psychosocial adjustment and quality of life has been reported good in children after a successful renal transplantation (Tx). There are, however, few reports of using standardized methods in evaluating these issues, particularly in small children. We investigated the psychosocial adjustment in 32 children at school age (mean 9.6 +/- 1.6), who had received a renal Tx under the age of 5 yr, using the Achenbach Child Behavior Checklist with data collected from both parents (CBCL) and teachers (CBCL-TRF). Health-related quality of life (HRQOL) was assessed by interviewing the children using a 17-dimensional (17D) health-related measure and compared to HRQOL of 244 normal school children. The ef…

MaleParentsPediatricsmedicine.medical_specialty030232 urology & nephrologyPsychological interventionChild BehaviorCBCL030230 surgeryStatistics Nonparametric03 medical and health sciences0302 clinical medicineSex FactorsQuality of lifemedicineHumansChild Behavior ChecklistChildSocial BehaviorTransplantationbusiness.industryTeachingAge FactorsSocial Supportmedicine.diseaseComorbidityKidney TransplantationSelf Concept3. Good healthTransplantationEl NiñoAttention Deficit and Disruptive Behavior DisordersPediatrics Perinatology and Child HealthQuality of LifeFemalebusinessPsychosocialAttitude to HealthSocial AdjustmentPediatric transplantation
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Trends in multiple recurrent health complaints in 15-year-olds in 35 countries in Europe, North America and Israel from 1994 to 2010

2015

Background: Health complaints are a good indicator of an individual’s psychosocial health and well-being. Studies have shown that children and adolescents report health complaints which can cause significant individual burden. Methods: Using data from the international Health Behaviour in School-aged Children study, this article describes trends in multiple recurrent health complaints (MHC) in 35 countries among N = 237 136 fifteen-year-olds from 1994 to 2010. MHC was defined as the presence of two or more health complaints at least once a week. Logistic regression analysis was performed to evaluate trends across the five survey cycles for each country. Results: Lowest prevalence thro…

MalePediatricsmedicine.medical_specialtyAdolescentHealth StatusAdolescent HealthLogistic regressionPrevalenceHumansMedicineIsraelhealth and well-beingSchool age childbusiness.industryEnvironmental and Occupational HealthPublic Health Environmental and Occupational HealthInternational healthta3141ta3142BenchmarkingHealth SurveysQuadratic trendEuropeNorth AmericaFemalePublic Healthtrend analysisHealth behaviorbusinessPsychosocialDemographyThe European Journal of Public Health
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Trends in health complaints from 2002 to 2010 in 34 countries and their association with health behaviours and social context factors at individual a…

2015

BACKGROUND: This article describes trends and stability over time in health complaints in adolescents from 2002 to 2010 and investigates associations between health complaints, behavioural and social contextual factors at individual level and economic factors at macro-level.METHODS: Comprising N = 510 876 11-, 13- and 15-year-old children and adolescents in Europe, North America and Israel, data came from three survey cycles of the international Health Behaviour in School-aged Children (HBSC) study. Age- and gender-adjusted trends in health complaints were examined in each country by means of linear regression. By using the country as the random effects variable, we tested to what extent in…

MalePediatricsmedicine.medical_specialtyAdolescentSocial Determinants of HealthHealth BehaviorMEDLINEsocial contextual factorshealth complaintshealth behaviourEnvironmental healthmedicineMacro levelHealth Status IndicatorsHumansadolescentsSocial determinants of healthIsraelChildAssociation (psychology)School age childeconomic factorsbusiness.industryEnvironmental and Occupational HealthPublic Health Environmental and Occupational HealthSocial environmentta3141ta3142Health SurveysEuropeAdolescent BehaviorNorth AmericaFemalePublic HealthHealth behaviorbusiness
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Understanding Discipline in Families of Children with Attention-Deficit/Hyperactivity Disorder: A Structural Equation Model

2009

One hundred and fifty-five mothers of children with attention deficit/hyperactivity disorder (ADHD) completed a semi-structured interview, the Parenting Stress Index Questionnaire (Abidin, 1990), to evaluate parenting stress. The Parenting Scale (Arnold, O’Leary, Wolff & Acker, 1993) was also administered to measure dysfunctional discipline strategies. Structural equation modeling was used to test a model in which the independent variables were the Child’s Characteristics and the Socio-Educational Status of his or her family; intermediate variables were Parenting Stress concerning the Child Domain and concerning the Parent Domain; and the dependent variable was Parental Discipline. The resu…

MalePermissivenessLinguistics and LanguagePsychological interventionDysfunctional familyComorbidityModels PsychologicalStructural equation modelingLanguage and LinguisticsStructural equation modelingEducationDevelopmental psychologyUNESCO::PSICOLOGÍA::Psicología del niño y del adolescente::Problemas de aprendizajeChild RearingCost of IllnessInterview PsychologicalmedicineHumansAttention deficit hyperactivity disorderChildGeneral PsychologyParenting stress; Discipline strategies; Structural equation modelingParentingDepression:PSICOLOGÍA::Psicología del niño y del adolescente::Problemas de aprendizaje [UNESCO]Social environmentUNESCO::PSICOLOGÍA::Patología ::Desórdenes del comportamientomedicine.diseaseMother-Child RelationsSocial relationTest (assessment)Expressed EmotionParenting stressSocioeconomic FactorsAttention Deficit Disorder with HyperactivityAttention Deficit and Disruptive Behavior DisordersSpainChild PreschoolScale (social sciences)Discipline strategiesQuality of LifeFemalePsychology
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