Search results for "NHE"

showing 10 items of 1058 documents

Plasma lysosphingomyelin demonstrates great potential as a diagnostic biomarker for Niemann-Pick disease type C in a retrospective study.

2015

Niemann-Pick disease type C (NP-C) is a devastating, neurovisceral lysosomal storage disorder which is characterised by variable manifestation of visceral signs, progressive neuropsychiatric deterioration and premature death, caused by mutations in the NPC1 and NPC2 genes. Due to the complexity of diagnosis and the availability of an approved therapy in the EU, improved detection of NP-C may have a huge impact on future disease management. At the cellular level dysfunction or deficiency of either the NPC1 or NPC2 protein leads to a complex intracellular endosomal/lysosomal trafficking defect, and organ specific patterns of sphingolipid accumulation. Lysosphingolipids have been shown to be e…

MalePathologyEndocrinology Diabetes and Metabolismlcsh:MedicineDiseaseBiochemistryEndocrinologySphingosineTandem Mass Spectrometrylcsh:ScienceBlood Specimen CollectionMultidisciplinaryNiemann-Pick Disease Type CInherited Metabolic DisordersLipidsBiomarker (medicine)FemaleNiemann–Pick diseaseNiemann-Pick diseaseResearch ArticleAdultmedicine.medical_specialtyAdolescentPhosphorylcholineYoung AdultDiagnostic MedicineGeneticsmedicineHumansSphingolipidosisClinical geneticsMolecular BiologyEdetic AcidAgedRetrospective StudiesMedicine and health sciencesSphingolipidsNiemann–Pick disease type Cbusiness.industryHeparinlcsh:RCase-control studyPsychosineReproducibility of ResultsBiology and Life SciencesRetrospective cohort studymedicine.diseaseSphingolipidCase-Control StudiesAutosomal recessive diseasesMetabolic Disorderslcsh:QNPC1businessLysosphingomyelinBiomarkersPloS one
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Spondylo-costal dysostosis in two siblings

1992

Two new cases of Spondylo-Costal Dysostosis (SCD) are reported in two siblings with strikingly similar skeletal abnormalities. Parental consanguinity documents in this family an autosomal recessive inheritance of trait. Clinical variability of SCD is discussed on the basis of clinical and radiological features. Its genetic heterogeneity is pointed out even considering the occurrence of cases with autosomal dominant as well as recessive inheritance.

MalePathologymedicine.medical_specialtyRibsGenes RecessiveConsanguinityRecessive inheritancemedicineHumansAbnormalities MultipleChildGeneticsAutosomal recessive inheritanceGenetic heterogeneitybusiness.industryRibDysostosisSyndromemedicine.diseaseSpineRadiographyParental consanguinityPediatrics Perinatology and Child HealthTraitFemaleSkeletal abnormalitiesbusinessHuman
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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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Women with congenital factor VII deficiency: clinical phenotype and treatment options from two international studies

2016

Introduction A paucity of data exists on the incidence, diagnosis and treatment of bleeding in women with inherited factor VII (FVII) deficiency. Aim Here we report results of a comprehensive analysis from two international registries of patients with inherited FVII deficiency, depicting the clinical picture of this disorder in women and describing any gender-related differences. Methods A comprehensive analysis of two fully compatible, international registries of patients with inherited FVII deficiency (International Registry of Factor VII deficiency, IRF7; Seven Treatment Evaluation Registry, STER) was performed. Results In our cohort (N = 449; 215 male, 234 female), the higher prevalence…

MalePediatricsFactor VII Deficiency030204 cardiovascular system & hematologyCohort Studieschemistry.chemical_compound0302 clinical medicineAntifibrinolytic agentgynaecological bleedingRegistriesChildGenetics (clinical)Aged 80 and overFactor VIIIncidence (epidemiology)Hazard ratio[SDV.MHEP.HEM]Life Sciences [q-bio]/Human health and pathology/HematologyHematologyGeneral MedicineFactor VIIMiddle AgedAntifibrinolytic AgentsRecombinant Proteins3. Good healthPhenotypeTreatment OutcomeChild PreschoolCohortFemalewomengynaecological bleeding; inherited factor VII deficiency; recombinant activated factor VII; womenCohort studyAdultmedicine.medical_specialtyAdolescentMucocutaneous zoneHemorrhageFactor VIIaYoung Adult03 medical and health sciencesmedicineHumansMenorrhagiaAgedProportional Hazards ModelsCoagulantsbusiness.industryProportional hazards modelInfantrecombinant activated factor VIISurgeryROC Curvechemistryinherited factor VII deficiencybusiness030215 immunology
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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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Quantifying male attractiveness

2003

Genetic models of sexual selection are concerned with a dynamic process in which female preference and male trait values coevolve. We present a rigorous method for characterizing evolutionary endpoints of this process in phenotypic terms. In our phenotypic characterization the mate-choice strategy of female population members determines how attractive females should find each male, and a population is evolutionarily stable if population members are actually behaving in this way. This provides a justification of phenotypic explanations of sexual selection and the insights into sexual selection that they provide. Furthermore, the phenotypic approach also has enormous advantages over a genetic…

MalePopulationBiologyGeneral Biochemistry Genetics and Molecular BiologyEvolutionarily stable strategySexual Behavior AnimalGenetic modelAnimalsComputer SimulationSelection GeneticeducationGeneral Environmental Scienceeducation.field_of_studyModels GeneticGeneral Immunology and MicrobiologyInheritance (genetic algorithm)General MedicineBiological EvolutionPreferenceGenetic architecturePhenotypeMate choiceEvolutionary biologySexual selectionFemaleGeneral Agricultural and Biological SciencesResearch ArticleProceedings of the Royal Society of London. Series B: Biological Sciences
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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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Construct validity and reliability of the physical activity parenting questionnaire for children (PAP-C)

2021

Background Children’s perception of parenting is hypothesised to significantly affect their physical activity (PA). This study aimed to examine construct validity, factorial invariance and reliability of a new tool: Physical Activity Parenting questionnaire for Children (PAP-C). Methods PAP-C comprised 22 items hypothesised to cover 3 theory-guided factors of physical activity parenting (PAP)—namely, structure for activity, autonomy support and involvement. Construct validity and internal consistency of PAP-C were tested using confirmatory factor analysis (CFA) and composite reliability in a sample of Finnish first, second- and third graders (n = 456; mean age 8.77 ± 0.84 years, girls 51.1%…

MaleRC620-627Psychometricsvanhemmuuskyselytutkimuslapset (ikäryhmät)AssessmentHumansChildNutritional diseases. Deficiency diseasesExerciseChildrenreliabiliteettiMotivationParentingPhysical activityResearchReproducibility of ResultsHealth SurveysSelf-determination theorypsykometriikkavanhemmatParental controlvaliditeettiFemalePublic aspects of medicineRA1-1270arviointifyysinen aktiivisuusmotivointiInternational Journal of Behavioral Nutrition and Physical Activity
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Parental Perceptions of the Use of Coercive Measures on Children with Developmental Disabilities

2016

Background Children with developmental disabilities who exhibit challenging behaviour are potentially subject to the use of coercive interventions. The aim of the study was to investigate the prevalence of the use of coercive measures by authorities, according to parents’ reports. Materials and Methods A postal survey was distributed, as a total population study, to 946 Finnish parents of children with developmental disabilities, between the ages of 5 and 15, and who were entitled to the highest disability allowance. Results Of the respondents, 54 (22%) answered ‘yes’ when asked whether their child had been subjected to coercive procedures by authorities. The parents had seldom approved the…

MaleRestraint Physical030506 rehabilitationAdolescentChallenging behaviourCoercionDevelopmental DisabilitiesPersons with Mental DisabilitiesPsychological interventionAllowance (money)restrictive interventionsEducationDevelopmental psychology03 medical and health sciencesIntervention (counseling)Surveys and QuestionnairesIntellectual disabilityDevelopmental and Educational PsychologymedicineSanctionsHumansta516Parental perceptionParent-Child RelationsChildFinlandProblem Behaviorchildren with disabilities4. Education05 social sciences050301 educationparentsChild Day Care Centers16. Peace & justicemedicine.diseasevanhemmatChild PreschoolFemalePerception0305 other medical scienceSeclusionPsychology0503 educationClinical psychologyJournal of Applied Research in Intellectual Disabilities
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