Search results for " ASSOCIATION"

showing 10 items of 996 documents

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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Further delineation of eye manifestations in homozygous 15q13.3 microdeletions including TRPM1: a differential diagnosis of ceroid lipofuscinosis.

2014

The 15q13.3 heterozygous microdeletion is a fairly common microdeletion syndrome with marked clinical variability and incomplete penetrance. The average size of the deletion, which comprises six genes including CHRNA7, is 1.5 Mb. CHRNA7 has been identified as the gene responsible for the neurological phenotype in this microdeletion syndrome. Only seven patients with a homozygous microdeletion that includes at least CHRNA7, and is inherited from both parents have been described in the literature. The aim of this study was to further describe the distinctive eye manifestations from the analysis in the three French patients diagnosed with the classical 1.5 Mb homozygous microdeletion. Patients…

MalePathologymedicine.medical_specialtygenetic structuresalpha7 Nicotinic Acetylcholine ReceptorEncephalopathyTRPM Cation ChannelsChromosome DisordersBiologyBlindnessEyePupilNeuronal Ceroid-LipofuscinosesNight BlindnessSeizuresIntellectual DisabilityRetinal DystrophiesGeneticsmedicineElectroretinographyMyopiaHumansEye AbnormalitiesChildGenetics (clinical)TRPM1Genetic Association StudiesCongenital stationary night blindnessGeneticsChromosomes Human Pair 15DystrophyEye Diseases HereditaryGenetic Diseases X-LinkedOptic NerveMicrodeletion syndromemedicine.diseasePenetranceChild PreschoolFemalesense organsDifferential diagnosisChromosome DeletionAmerican journal of medical genetics. Part A
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Clinical features and follow-up in patients with 22q11.2 deletion syndrome

2014

Objective To investigate the clinical manifestations at diagnosis and during follow-up in patients with 22q11.2 deletion syndrome to better define the natural history of the disease. Study design A retrospective and prospective multicenter study was conducted with 228 patients in the context of the Italian Network for Primary Immunodeficiencies. Clinical diagnosis was confirmed by cytogenetic or molecular analysis. Results The cohort consisted of 112 males and 116 females; median age at diagnosis was 4 months (range 0 to 36 years 10 months). The diagnosis was made before 2 years of age in 71% of patients, predominantly related to the presence of heart anomalies and neonatal hypocalcemia. In…

MalePediatrics22q11.2 deletionDelayed DiagnosisTime FactorsChromosomes Human Pair 22Developmental Disabilitiesdigeorge syndromeSex FactorSeverity of Illness IndexRetrospective StudieDiGeorge syndromeEarly DiagnosiAge FactorProspective StudiesNeonatal hypocalcemiaProspective cohort studyChildmedicine.diagnostic_testDelayed Diagnosi22q11.2 deletion; Primary immune disordersAge Factorsdel 22qMIMAbnormalities Multiple; Adolescent; Adult; Age Factors; Child; Child Preschool; Chromosomes Human Pair 22; Delayed Diagnosis; Developmental Disabilities; DiGeorge Syndrome; Early Diagnosis; Female; Follow-Up Studies; Genetic Testing; Humans; Infant; Infant Newborn; Male; Monitoring Physiologic; Prospective Studies; Retrospective Studies; Risk Assessment; Severity of Illness Index; Sex Factors; Time Factors; Young Adult; Disease ProgressionChild PreschoolCohortDisease ProgressionPrimary immune disordersFemaleAbnormalitiesMultipleAbnormalities Multiple; Adolescent; Adult; Age Factors; Child; Child Preschool; Chromosomes Human Pair 22; Delayed Diagnosis; Developmental Disabilities; DiGeorge Syndrome; Early Diagnosis; Female; Follow-Up Studies; Genetic Testing; Humans; Infant; Infant Newborn; Male; Monitoring Physiologic; Prospective Studies; Retrospective Studies; Risk Assessment; Severity of Illness Index; Sex Factors; Time Factors; Young Adult; Disease Progression; Pediatrics Perinatology and Child HealthHumanAdultmedicine.medical_specialtyTime FactorAdolescentMonitoringDevelopmental DisabilitieItalian Association of Pediatric Haematology and OncologyContext (language use)Risk AssessmentChromosomesFollow-Up StudieYoung AdultSex FactorsSeverity of illnessmedicineDiGeorge SyndromeHumansAbnormalities MultipleGenetic Testing22q11DS; 22q11.2 deletion syndrome; AIEOP; Italian Association of Pediatric Haematology and Oncology; MIM; Mendelian Inheritance in Man22q11DSPreschoolPhysiologicdigeorge syndrome; del 22qGenetic testingMonitoring PhysiologicRetrospective StudiesSettore MED/38 - Pediatria Generale e Specialisticabusiness.industryMendelian Inheritance in ManInfant NewbornInfantRetrospective cohort studymedicine.diseaseNewbornAIEOPProspective StudieEarly Diagnosis22q11.2 deletion syndromePediatrics Perinatology and Child HealthPair 22businessFollow-Up Studies
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Air pollution and childhood leukaemia: a nationwide case-control study in Italy

2013

Objectives Leukaemia is the most common cancer in children, but its aetiology is still poorly understood. We tested the hypothesis that traffic-related air pollution is associated with paediatric leukaemia because of chronic exposure to several potential carcinogens. Methods The Italian SETIL study (Study on the aetiology of lymphohematopoietic malignancies in children) was conducted in 14 Italian regions. All incident cases of leukaemia in children aged ≤10 years from these regions (period 1998–2001) were eligible for enrolment. Two controls per case, matched on birth date, gender and region of residence were randomly selected from the local population registries. Exposure assessment at bi…

MalePediatricsAir pollutionNO2Land use Regression ModelLogistic regressionmedicine.disease_causeEconomicaResidence CharacteristicsUSE REGRESSION-MODELSMedicineChildChildrenVehicle EmissionsGeneral Environmental ScienceUSE REGRESSION-MODELS RESIDENTIAL TRAFFIC DENSITY MAGNETIC-FIELDS POOLED ANALYSIS RISK-FACTOR CANCER EXPOSURE CHILDREN NO2 ASSOCIATIONLeukemiaIncidenceIncidence (epidemiology)ASSOCIATIONCANCERChildhood leukaemiaItalyChild PreschoolFemaleCase-Control StudieHumanmedicine.medical_specialtySocio-culturaleMAGNETIC-FIELDSPOOLED ANALYSISRISK-FACTORAir PollutionOccupational ExposureEnvironmental healthTraffic IndicatorHumansEXPOSURERESIDENTIAL TRAFFIC DENSITYExposure assessmentVehicle Emissionbusiness.industryPublic Health Environmental and Occupational HealthCase-control studyAmbientaleInfantCarcinogens EnvironmentalAutomobileCase-Control StudiesResidence CharacteristicDispersion ModelEtiologyGeneral Earth and Planetary SciencesParticulate MatterResidencebusinessAutomobilesOccupational and Environmental Medicine
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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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Clinical and genetic approach in the characterization of newborns with anorectal malformation

2022

Objective: This study aimed to investigate clinical, surgical, and genetic data of neonates with anorectal malformation (ARM). Study design: A retrospective observational study was conducted on neonates with ARM as an isolated type (group 1), with ≤2 (group 2), and with ≥3 associated malformations (group 3), born between 2009 and 2020. Distribution of ARM, associated abnormalities and genetic testing were analyzed, and risk factors for adverse outcomes were identified. Results: The 45 ARM cases (36% females) were divided as follows: 13 neonates belonging to group 1 (29%), 8 to group 2 (18%), and 24 to group 3 (53%). Cases were equally distributed over 11 years. Krickenbeck anatomy was: with…

MalePediatricsmedicine.medical_specialtyAnal CanalKidneymedicinecongenital abnormalitieHumansCopy-number variationimperforate anuHypertelorismbusiness.industryInfant Newborncopy number variationObstetrics and GynecologyGenetic dataRetrospective cohort studyToesmedicine.diseaseVACTERL associationhumanitiesAnorectal Malformationsbody regionsRetrospective studyUrogenital AbnormalitiesPediatrics Perinatology and Child HealthFemaleSyndactylybusinessImperforate anusVACTERL association.
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Transient Receptor Potential Channel Polymorphisms Are Associated with the Somatosensory Function in Neuropathic Pain Patients

2011

Transient receptor potential channels are important mediators of thermal and mechanical stimuli and play an important role in neuropathic pain. The contribution of hereditary variants in the genes of transient receptor potential channels to neuropathic pain is unknown. We investigated the frequency of transient receptor potential ankyrin 1, transient receptor potential melastin 8 and transient receptor potential vanilloid 1 single nucleotide polymorphisms and their impact on somatosensory abnormalities in neuropathic pain patients. Within the German Research Network on Neuropathic Pain (Deutscher Forscbungsverbund Neuropathischer Schmerz) 371 neuropathic pain patients were phenotypically ch…

MalePharmacologyTransient receptor potential channelTransient Receptor Potential ChannelsAnesthesiologyMolecular Cell BiologyMembrane Receptor SignalingMultidisciplinaryQRMiddle AgedNeurologyHyperalgesiaNeuropathic painMedicineFemaleSensory Perceptionmedicine.symptomResearch ArticleSignal TransductionAdultAnkyrinsGenotypeScienceMedizinische Fakultät -ohne weitere Spezifikation-Receptor potential610TRPV Cation ChannelsSensory systemSingle-nucleotide polymorphism-Polymorphism Single NucleotidemedicineGeneticsHumansPain ManagementGenetic Predisposition to Diseaseddc:610BiologyGenetic Association StudiesAgedHypoalgesiaPolymorphism GeneticPopulation Biologybusiness.industryHuman Geneticsmedicine.diseaseNeuralgiaGenetic PolymorphismNeuralgiabusinessPopulation GeneticsNeuroscience
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The effects of age at menarche and first sexual intercourse on reproductive and behavioural outcomes:A Mendelian randomization study

2020

SummaryThere is substantial variation in the timing of significant reproductive life events such as menarche and first sexual intercourse. Life history theory explains this variation as an adaptive response to the developmental environment. In environments characterized by harsh conditions, adopting a fast life history strategy may increase fitness. In line with this, there is evidence demonstrating that greater childhood adversity is associated with earlier age at menarche. Here we applied Mendelian randomization (MR) methods to investigate whether there is a causal effect of variation in age at menarche and age at first sexual intercourse on outcomes related to reproduction, education and…

MalePhysiologySocial SciencesFamilies0302 clinical medicineEndocrinologyMathematical and Statistical TechniquesSociologyReproductive PhysiologyPregnancyCopulationMedicine and Health SciencesPsychology030212 general & internal medicineChildrenLife History Traitsmedia_common0303 health sciencesMultidisciplinaryAlcohol ConsumptionReproductionStatisticsQAge FactorsCoitusRGenomicsMetaanalysisMiddle AgedCausalityPhysical SciencesMenarcheEducational StatusMedicineFemaleReproductionPsychologyResearch Articlemedia_common.quotation_subjectScienceAffect (psychology)Research and Analysis MethodsLife history theoryEducation03 medical and health sciencesRisk-TakingMendelian randomizationmedicineGenome-Wide Association StudiesGeneticsHumansSocial determinants of healthStatistical MethodsMenstrual CycleEducational Attainment030304 developmental biologyNutritionMenarchePregnancyBehaviorEndocrine PhysiologyBiology and Life SciencesComputational BiologyHuman GeneticsMendelian Randomization Analysismedicine.diseaseGenome AnalysisConfidence intervalEducational attainmentUnited KingdomDietSexual intercourseAge GroupsPeople and PlacesPopulation GroupingsMathematicsDemography
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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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Polymorphisms of an innate immune gene, toll-like receptor 4, and aggressive prostate cancer risk: a systematic review and meta-analysis.

2014

Background: Toll-like receptor 4 (TLR4) is one of the best known TLR members expressed on the surface of several leukocytes and tissue cells and has a key function in detecting pathogen and danger-associated molecular patterns. The role of TLR4 in the pathophysiology of several age-related diseases is also well recognized, such as prostate cancer (PCa). TLR4 polymorphisms have been related to PCa risk, but the relationship between TLR4 genotypes and aggressive PCa risk has not been evaluated by any systematic reviews. Methods: We performed a systematic review and meta-analysis of candidate-gene and genome-wide association studies analyzing this relationship and included only white populatio…

MaleProstate cancer polymorphisms of TLR4 aggressive prostate cancer risk meta-analysisSystematic Reviewslcsh:MedicineGenome-wide association studySingle-nucleotide polymorphismBiologyResearch and Analysis MethodsBioinformaticsPolymorphism Single NucleotideProstate cancerGenotypeGeneticsCancer GeneticsmedicineHumansSettore MED/05 - Patologia ClinicaGenetic Predisposition to DiseaseStatistical Methodslcsh:ScienceGenotypingGenetic associationEvolutionary BiologyMultidisciplinarylcsh:RProstatic NeoplasmsBiology and Life SciencesResearch Assessmentmedicine.diseaseImmunity InnateToll-Like Receptor 4Systematic reviewMeta-analysisPhysical SciencesGenetic Polymorphismlcsh:QPopulation GeneticsMathematicsStatistics (Mathematics)Genome-Wide Association StudyResearch ArticleMeta-AnalysisPLoS ONE
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