Search results for "bp"

showing 10 items of 672 documents

Does parental expressed emotion moderate genetic effects in ADHD? An exploration using a genome wide association scan.

2008

Contains fulltext : 70497.pdf (Publisher’s version ) (Closed access) Studies of gene x environment (G x E) interaction in ADHD have previously focused on known risk genes for ADHD and environmentally mediated biological risk. Here we use G x E analysis in the context of a genome-wide association scan to identify novel genes whose effects on ADHD symptoms and comorbid conduct disorder are moderated by high maternal expressed emotion (EE). SNPs (600,000) were genotyped in 958 ADHD proband-parent trios. After applying data cleaning procedures we examined 429,981 autosomal SNPs in 909 family trios. ADHD symptom severity and comorbid conduct disorder was measured using the Parental Account of Ch…

MaleParentsCandidate geneGenetics and epigenetic pathways of disease [NCMLS 6]Medizin2804 Cellular and Molecular NeuroscienceHostilityNeuroinformatics [DCN 3]2738 Psychiatry and Mental Health0302 clinical medicineGene FrequencyPerception and Action [DCN 1]Gene–environment interactionParent-Child RelationsChildGenetics (clinical)NeuregulinsbiologySLC1A1Intracellular Signaling Peptides and Proteins10058 Department of Child and Adolescent PsychiatryPsychiatry and Mental healthExpressed EmotionExcitatory Amino Acid Transporter 3Conduct disorderChild PreschoolFemalemedicine.symptomFunctional Neurogenomics [DCN 2]Clinical psychologyGenetic Markers2716 Genetics (clinical)AdolescentQuantitative Trait Loci610 Medicine & healthSingle-nucleotide polymorphismContext (language use)Mental health [NCEBP 9]Polymorphism Single NucleotideGenomic disorders and inherited multi-system disorders [IGMD 3]Interviews as Topic03 medical and health sciencesCellular and Molecular NeuroscienceCognitive neurosciences [UMCN 3.2]mental disordersmedicineExpressed emotionHumansddc:610Medizinische Fakultät » Universitätsklinikum Essen » LVR-Klinikum Essen » Klinik für Psychiatrie Psychosomatik und Psychotherapie des Kindes- und JugendaltersAllelesProbabilityModels Geneticbusiness.industryGenome Humanmedicine.disease030227 psychiatryGenetic defects of metabolism [UMCN 5.1]Attention Deficit Disorder with Hyperactivitybiology.proteinbusiness030217 neurology & neurosurgeryGenome-Wide Association Study
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Clinical characteristics of patients with familial amyotrophic lateral sclerosis carrying the pathogenic GGGGCC hexanucleotide repeat expansion of C9…

2012

A large hexanucleotide (GGGGCC) repeat expansion in the first intron of C9ORF72, a gene located on chromosome 9p21, has been recently reported to be responsible for 40% of familial amyotrophic lateral sclerosis cases of European ancestry. The aim of the current article was to describe the phenotype of amyotrophic lateral sclerosis cases carrying the expansion by providing a detailed clinical description of affected cases from representative multi-generational kindreds, and by analysing the age of onset, gender ratio and survival in a large cohort of patients with familial amyotrophic lateral sclerosis. We collected DNA and analysed phenotype data for 141 index Italian familial amyotrophic l…

MaleParentsPathologyphenotype-genotype correlationCohort Studies0302 clinical medicineC9orf72amyotrophic lateral sclerosigeneticsAmyotrophic lateral sclerosisAge of Onsetamyotrophic lateral sclerosis; familial als; C9Orf72; phenotype-genotype correlation0303 health sciencesSex CharacteristicsDNA Repeat ExpansionAdult Age of Onset Aged Amyotrophic Lateral Sclerosis; genetics/pathology Cohort Studies DNA Repeat Expansion DNA; genetics Female Humans Italy Male Middle Aged Mutation; genetics Parents Pedigree Phenotype Proteins; genetics Sex Characteristics Survival AnalysisMiddle Aged3. Good healthPedigreeSettore MED/26 - NEUROLOGIAPhenotypeItalyC9Orf72Settore MED/26 - NeurologiaFemaleFrontotemporal dementiaAdultmedicine.medical_specialtySOD1BiologyTARDBP03 medical and health sciencesInternal medicinemedicineHumans030304 developmental biologyAgedamyotrophic lateral sclerosis familial ALS C9ORF72 gene phenotype–genotype correlationC9orf72 ProteinAmyotrophic Lateral Sclerosisgenetics/pathologyProteinsOriginal ArticlesDNAmedicine.diseaseSurvival AnalysisC9orf72 ProteinSettore BIO/18 - Geneticaamyotrophic lateral sclerosis; familial ALS C9ORF72 gene; phenotype-genotype correlation;MutationNeurology (clinical)Age of onsetTrinucleotide repeat expansionfamilial al030217 neurology & neurosurgery
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Functional Synaptic Projections onto Subplate Neurons in Neonatal Rat Somatosensory Cortex

2002

Subplate neurons (SPn) play an important role in the formation of thalamocortical connections during early development and show glutamatergic and GABAergic spontaneous synaptic activity. We characterized these synaptic inputs by performing whole-cell recordings from SPn in somatosensory cortical slices of postnatal day 0-3 rats. At -70 mV, electrical stimulation of the thalamocortical afferents elicited in 68% of the SPn a monosynaptic CNQX-sensitive postsynaptic current (PSC). These fast PSCs were mediated by AMPA receptors, because they were prolonged by cyclothiazide and blocked by GYKI 52466. On membrane depolarization, thalamocortical stimulation elicited in 50% of the cells an additio…

MalePatch-Clamp TechniquesAction PotentialsStimulationAMPA receptorBiologyIn Vitro TechniquesSomatosensory systemReceptors N-Methyl-D-AspartateMembrane PotentialsGABA AntagonistsThalamusSubplatemedicineAnimalsReceptors AMPAARTICLERats Wistargamma-Aminobutyric AcidNeuronsAfferent PathwaysGeneral NeuroscienceLysineCell MembraneExcitatory Postsynaptic PotentialsDepolarizationSomatosensory CortexReceptors GABA-AElectric StimulationRatsmedicine.anatomical_structurenervous systemAnimals NewbornSynapsesGABAergicNMDA receptorCyclothiazideNeuroscienceExcitatory Amino Acid Antagonistsmedicine.drug
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A c.1244G>A (p.Arg415Gln) mutation in SH3BP2 gene causes cherubism in a Turkish family: report of a family with review of the literature

2014

Objectives: The present study was aimed at advancing the understanding of the pathogenesis of cherubism by presenting a case study based on history, physical examination, typical radiological features, molecular and histo - pathological laboratory tests and a review of the literature. Study Design: This study began with a 7-year-old boy who was referred due to mandibular overgrowth. A pan - oramic radiograph revealed multilocular radiolucent lesions of the upper/lower jaws suggestive of cherubism. Overall, a total of four family members were tested for SH3BP2 mutations, namely two siblings and their parents. Both siblings had been clinically diagnosed with cherubism; however, the parents we…

MalePathologymedicine.medical_specialtyTurkeyPhysical examinationOdontologíaDiseaseExonSH3BP2medicineMissense mutationHumansChildGeneral DentistryPathologicalGenetic associationAdaptor Proteins Signal TransducingOral Medicine and Pathologymedicine.diagnostic_testbusiness.industryResearchCherubismmedicine.disease:CIENCIAS MÉDICAS [UNESCO]DermatologyCiencias de la saludCherubismPedigreePhenotypeOtorhinolaryngologyChild PreschoolMutationUNESCO::CIENCIAS MÉDICASSurgeryFemalebusiness
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Observational study on risk factors determining residual dizziness after successful benign paroxysmal positional vertigo treatment: The role of subcl…

2018

Studio osservazionale sui fattori di rischio che causano residual dizziness dopo il trattamento della vertigine parossistica posizionale benigna: il ruolo della VPPB subclinica.Alcuni pazienti, dopo il trattamento della vertigine parossistica posizionale benigna concluso con successo, possono lamentare un disequilibrio residuo. La possibile spiegazione potrebbe essere: la persistenza di otoliti canalari insufficienti a provocare un nistagmo clinicamente evidente, una disfunzione utriculare, coesistenza di altri disordini del sistema vestibolare. Abbiamo condotto uno studio osservazionale prospettico caso-controllo, focalizzando l’attenzione sul ruolo di fattori di rischio che possono causar…

MalePediatricsNistagmoNystagmusResidualSettore MED/42 - Igiene Generale E ApplicataDisequilibrio residuoNystagmus0302 clinical medicineRisk FactorsMedicine030223 otorhinolaryngologyResidual dizzinessSubclinical infectionAged 80 and overHigh prevalenceDizzineMiddle AgedGeneral Energy030220 oncology & carcinogenesisCohortVPPB soggettivaFemaleBenign paroxysmal positional vertigomedicine.symptomAdultmedicine.medical_specialtyBenign paroxysmal positional vertigoAdolescentVertigine parossistica posizionale benignaResidual dizzineDizzinessNystagmuVestibologyYoung Adult03 medical and health sciencesDisequilibriootorhinolaryngologic diseasesHumansIn patientAgedbusiness.industrymedicine.diseaseLogistic ModelsOtorhinolaryngologyCase-Control StudiesObservational studysense organsbusinessSubjective BPPV
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First results of a European multi-center registry of patients with anorectal malformations.

2013

Background: The European consortium on anorectal malformations (ARM-NET) was established to improve the health care of patients and to identify genetic and environmental risk factors. The aim of the present study was to present the first results on clinical data of a large European cohort of ARM patients based on our registry. Methods: In 2010, the registry was established including patient characteristics and data on diagnosis, surgical therapy, and outcome regarding complications. Patients born between 2007 and 2012 were retrospectively added. A descriptive analysis of this cohort was performed. Results: Two hundred and three ARM patients were included. Syndromes or chromosomal abnormalit…

MalePediatricsmedicine.medical_specialtyPatient characteristicsComorbidityGenomic disorders and inherited multi-system disorders [IGMD 3]Anus ImperforatePostoperative ComplicationsEnvironmental riskHealth careFemale patientmedicineHumansAbnormalities MultipleRegistriesRetrospective StudiesChromosome Aberrationsbusiness.industryIncidence (epidemiology)IncidenceInfant NewbornUrogenital AbnormalityGeneral MedicineSyndromeHuman Reproducion Genomic disorders and inherited multi-system disorders [NCEBP 12]Anorectal MalformationsEuropeTreatment OutcomeHuman Reproduction Renal disorder [NCEBP 12]Evaluation of complex medical interventions [NCEBP 2]Urogenital AbnormalitiesPediatrics Perinatology and Child HealthCohortEtiologySurgeryFemalebusiness
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Differential dopamine receptor D4 allele association with ADHD dependent of proband season of birth

2008

Contains fulltext : 70196.pdf (Publisher’s version ) (Closed access) Season of birth (SOB) has been associated with attention deficit hyperactivity disorder (ADHD) in two existing studies. One further study reported an interaction between SOB and genotypes of the dopamine D4 receptor (DRD4) gene. It is important that these findings are further investigated to confirm or refute the findings. In this study, we investigated the SOB association with ADHD in four independent samples collected for molecular genetic studies of ADHD and found a small but significant increase in summer births compared to a large population control dataset. We also observed a significant association with the 7-repeat…

MaleProbandLinkage disequilibriumSeason of birthGenetics and epigenetic pathways of disease [NCMLS 6]MedizinPhysiologyNeuroinformatics [DCN 3]Mental health [NCEBP 9]Linkage DisequilibriumGenomic disorders and inherited multi-system disorders [IGMD 3]03 medical and health sciencesCellular and Molecular Neuroscience0302 clinical medicineCognitive neurosciences [UMCN 3.2]mental disordersmedicineDopamine receptor D4Perception and Action [DCN 1]HumansAttention deficit hyperactivity disorderddc:610Medizinische Fakultät » Universitätsklinikum Essen » LVR-Klinikum Essen » Klinik für Psychiatrie Psychosomatik und Psychotherapie des Kindes- und JugendaltersAlleleGene–environment interactionChildAllelesGenetics (clinical)biologyReceptors Dopamine D4Parturitionmedicine.disease030227 psychiatry3. Good healthPsychiatry and Mental healthVariable number tandem repeatGenetic defects of metabolism [UMCN 5.1]Attention Deficit Disorder with HyperactivityChild Preschoolbiology.proteinFemaleSeasonsFunctional Neurogenomics [DCN 2]030217 neurology & neurosurgery
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Genome-wide association study of motor coordination problems in ADHD identifies genes for brain and muscle function.

2012

Item does not contain fulltext OBJECTIVES: Motor coordination problems are frequent in children with attention deficit/hyperactivity disorder (ADHD). We performed a genome-wide association study to identify genes contributing to motor coordination problems, hypothesizing that the presence of such problems in children with ADHD may identify a sample of reduced genetic heterogeneity. METHODS: Children with ADHD from the International Multicentre ADHD Genetic (IMAGE) study were evaluated with the Parental Account of Children's Symptoms. Genetic association testing was performed in PLINK on 890 probands with genome-wide genotyping data. Bioinformatics enrichment-analysis was performed on highly…

MaleProbandmedicine.medical_specialtyGENETICSAdolescentGenotypeDCN MP - Plasticity and memoryMedizinQUESTIONNAIRESocial SciencesCHILDRENGenome-wide association studySingle-nucleotide polymorphismDCN PAC - Perception action and controlBioinformaticsMental health [NCEBP 9]Polymorphism Single NucleotideGenomic disorders and inherited multi-system disorders DCN MP - Plasticity and memory [IGMD 3]03 medical and health sciences0302 clinical medicineSurveys and QuestionnairesADOLESCENTSmedicineHumansDCN PAC - Perception action and control NCEBP 9 - Mental healthddc:610Medizinische Fakultät » Universitätsklinikum Essen » LVR-Klinikum Essen » Klinik für Psychiatrie Psychosomatik und Psychotherapie des Kindes- und JugendaltersRestless legs syndromeAmyotrophic lateral sclerosisChildPsychiatryBiological Psychiatry030304 developmental biologyGenetic association0303 health sciencesGenetic heterogeneityGenomic disorders and inherited multi-system disorders [DCN PAC - Perception action and control IGMD 3]medicine.disease3. Good healthMotor coordinationMotor Skills DisordersPsychiatry and Mental healthAttention Deficit Disorder with HyperactivityChild PreschoolFemalePsychologyINTERVENTION030217 neurology & neurosurgeryGenome-Wide Association Study
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Vorapaxar in the secondary prevention of atherothrombotic events

2012

BACKGROUND: Thrombin potently activates platelets through the protease-activated receptor PAR-1. Vorapaxar is a novel antiplatelet agent that selectively inhibits the cellular actions of thrombin through antagonism of PAR-1. METHODS: We randomly assigned 26,449 patients who had a history of myocardial infarction, ischemic stroke, or peripheral arterial disease to receive vorapaxar (2.5 mg daily) or matching placebo and followed them for a median of 30 months. The primary efficacy end point was the composite of death from cardiovascular causes, myocardial infarction, or stroke. After 2 years, the data and safety monitoring board recommended discontinuation of the study treatment in patients …

MalePyridines[SDV]Life Sciences [q-bio]Myocardial InfarctionMedizinKaplan-Meier Estimate030204 cardiovascular system & hematologyBrain IschemiaLactones0302 clinical medicineMESH: Peripheral Arterial DiseaseSecondary PreventionMESH: Double-Blind Method030212 general & internal medicineMyocardial infarctionStrokeVorapaxarMESH: AgedAspirinMESH: Middle AgedMESH: RiskCardiovascular diseases [NCEBP 14]MESH: Secondary PreventionHazard ratioMESH: Brain IschemiaGeneral MedicineMiddle AgedClopidogrel3. Good healthStrokeMESH: Receptor PAR-1MESH: Myocardial Infarctionvorapaxar secondary prevention atherothrombotic eventsCardiovascular DiseasesMESH: Platelet Aggregation InhibitorsAnesthesiaRetreatmentPlatelet aggregation inhibitorFemaleIntracranial HemorrhagesMESH: HemorrhageMESH: Intracranial HemorrhagesMESH: Lactonescirculatory and respiratory physiologymedicine.drugRiskISQUEMIA CEREBRALHemorrhagePlaceboMESH: StrokePeripheral Arterial Disease03 medical and health sciencesDouble-Blind Method[INFO.INFO-IM]Computer Science [cs]/Medical ImagingmedicineHumansReceptor PAR-1MESH: RetreatmentMESH: Kaplan-Meier EstimateAgedMESH: Humansbusiness.industryMESH: PyridinesMESH: Cardiovascular Diseasesmedicine.diseaseSettore MED/11 - Malattie Dell'Apparato CardiovascolareMESH: MalebusinessMESH: FemalePlatelet Aggregation Inhibitors
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Sexual dysfunctions after transurethral resection of the prostate (TURP): evidence from a retrospective study on 264 patients

2015

Objectives: Benign prostatic hyperplasia (BPH) and sexual dysfunctions are diseases with a high prevalence in aged men. Several studies have found a link between BPH and LUTS resulting from deterioration in sexual function in men aged 50 years and older for whom TURP is considered the gold standard. The impact of TURP on sexual functions still remain uncertain, nor is it clear what pathophysiological mechanism underlying the emergence of new episodes of Erectile Dysfunction (ED) following TURP in patients with normal sexual function before surgery, while retrograde ejaculation and ejaculate volume reduction represent a clear side effect; derived from BPH treatment. The aim of this study was…

MaleRetrograde ejaculationmedicine.medical_specialtyLongitudinal studyUrologymedicine.medical_treatmentProstatic Hyperplasialcsh:RC870-923urologic and male genital diseasesPreoperative careSettore MED/24 - UrologiaErectile DysfunctionErectile Dysfunction (ED)Surveys and QuestionnairesInternal medicinePreoperative CaremedicineHumansInternational index of erectile function (IIEF)Longitudinal StudiesSicilyTransurethral resection of the prostate (TURP)AgedRetrospective StudiesTransurethral resection of the prostateAged 80 and overPostoperative CareLibidoBenign prostatic hyperplasiabusiness.industryBenign prostatic hyperplasia (BPH)Low urinary tract symptoms (LUTS).Transurethral Resection of ProstateTransurethral resection of the prostateRetrospective cohort studyMiddle Agedlcsh:Diseases of the genitourinary system. Urologymedicine.diseaseInternational index of erectile functionLow urinary tract symptomsSurgeryErectile dysfunctionSexual functionbusinessArchivio Italiano di Urologia e Andrologia
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