Search results for "Paediatric research"

showing 5 items of 5 documents

Association of leisure time physical activity and NMR-detected circulating amino acids in peripubertal girls: A 7.5-year longitudinal study

2017

AbstractThis study investigated the longitudinal associations of physical activity and circulating amino acids concentration in peripubertal girls. Three hundred ninety-six Finnish girls participated in the longitudinal study from childhood (mean age 11.2 years) to early adulthood (mean age 18.2 years). Circulating amino acids were assessed by nuclear magnetic resonance spectroscopy. LTPA was assessed by self-administered questionnaire. We found that isoleucine, leucine and tyrosine levels were significantly higher in individuals with lower LTPA than their peers at age 11 (p < 0.05 for all), independent of BMI. In addition, isoleucine and leucine levels increased significantly (~15%) fro…

0301 basic medicineGerontologyLongitudinal studyAdolescentLeisure timelongitudinal researchPhysical activitylcsh:MedicinePhysiologymarkersbiomarkkeritpitkittäistutkimus030204 cardiovascular system & hematologyHealth benefitsaminohapotPaediatric researchphysical activenessArticle03 medical and health sciences0302 clinical medicineLeisure ActivitiesMetabolomicsMedicineHumansLongitudinal StudiesAmino Acidslcsh:ScienceChildExerciseNuclear Magnetic Resonance Biomolecularchemistry.chemical_classificationamino acidsMultidisciplinarybusiness.industrygirlslcsh:RtytötAmino acid030104 developmental biologychemistrymarkkeritEarly adolescentslcsh:QFemaleIsoleucineLeucinebusinessfyysinen aktiivisuus
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Clinical relevance of postzygotic mosaicism in Cornelia de Lange syndrome and purifying selection of NIPBL variants in blood.

2021

Postzygotic mosaicism (PZM) in NIPBL is a strong source of causality for Cornelia de Lange syndrome (CdLS) that can have major clinical implications. Here, we further delineate the role of somatic mosaicism in CdLS by describing a series of 11 unreported patients with mosaic disease-causing variants in NIPBL and performing a retrospective cohort study from a Spanish CdLS diagnostic center. By reviewing the literature and combining our findings with previously published data, we demonstrate a negative selection against somatic deleterious NIPBL variants in blood. Furthermore, the analysis of all reported cases indicates an unusual high prevalence of mosaicism in CdLS, occurring in 13.1% of p…

AdultMaleCornelia de Lange SyndromeAdolescent Adult Cell Cycle Proteins Child Child Preschool Comparative Genomic Hybridization De Lange Syndrome Female Gene Deletion High-Throughput Nucleotide Sequencing Humans Male Middle Aged Mosaicism Mutation Missense Phenotype Retrospective Studies Spain Young AdultAdolescentSomatic cellScienceGenetic counselingMedizinMutation MissenseDiseasesCell Cycle ProteinsBiologyPaediatric researchGermlineArticle03 medical and health sciencesNegative selectionYoung AdultMedical researchDe Lange SyndromeGenetics researchmedicineMissense mutationHumansClinical significanceChild030304 developmental biologyRetrospective StudiesGenetics0303 health sciencesComparative Genomic HybridizationMultidisciplinaryMosaicismQ030305 genetics & heredityRHigh-Throughput Nucleotide SequencingNIPBLMiddle Agedmedicine.diseasePhenotypeSettore MED/03 - Genetica MedicaSpainChild PreschoolMedicineFemaleGene Deletion
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Validity of traditional physical activity intensity calibration methods and the feasibility of self-paced walking and running on individualised calib…

2020

There are no practical and valid methods for the assessment of individualised physical activity (PA) intensity in observational studies. Therefore, we investigated the validity of commonly used metabolic equivalent of tasks (METs) and predetermined PA intensity classification methods against individualised PA intensity classification in 35 children 7–11-years-of-age. Then, we studied validity of mean amplitude deviation (MAD) measured by accelerometry during self-paced walking and running in assessment of individualised PA intensity. Individualised moderate PA (MPA) was defined as V̇O2 ≥ 40% of V̇O2reserve and V̇O2 3–6 (or alternatively > 4–7) METs as MPA and > 6 (> 7) METs as VPA. Task int…

MaleEpidemiologyHEART-RATElcsh:Medicinelapset (ikäryhmät)Paediatric researchArticleVALIDATIONRunningACCELEROMETERAccelerometryHumans315 Sport and fitness sciencesChildlcsh:ScienceExerciselcsh:RADULTSEXERCISE INTENSITYWalking SpeedmittausmenetelmätMetabolismRisk factorsvaliditeettiFeasibility StudiesFemalelcsh:QCARDIORESPIRATORY FITNESSfyysinen aktiivisuusRESPONSES
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Relationship between quality of life and behavioural disorders in children with persistent asthma: a Multiple Indicators Multiple Causes (MIMIC) model

2020

AbstractKnowledge on multiple interdependences between quality of life (QoL) and behavioural problems in relation to asthma severity and control is undetermined. The aims of the study were: (i) to assess the relationship of QoL and behavioural problems with asthma severity and control (ii) to predict children’s “abnormal/borderline” status with variation in QoL. For these purposes a multicenter case-control study on 47 Severe Asthma (SA) and 94 Moderate Asthma (MA) children was performed. The MIMIC approach was applied to investigate the effect of SA and non-controlled asthma (NC) on QoL and behavioural disorders. Logistic regression was used to estimate probabilities of having an “abnormal…

MaleModerate asthmaAsthma severitylcsh:Medicine010501 environmental sciencesBehavioural disordersLogistic regressionPaediatric research01 natural sciencesArticle03 medical and health sciences0302 clinical medicineMedical researchQuality of lifechildrenHuman behaviourmedicineHumansPsychologyChildlcsh:Science0105 earth and related environmental sciencesAsthmaProblem BehaviorMultidisciplinarybusiness.industrychildren asthmalcsh:RCase-control studyasthmamedicine.diseasehumanitiesbehavioural disorderLogistic Models030228 respiratory systembehavioural disordersquality of lifeCase-Control StudiesFemalelcsh:QPersistent asthmabusinessClinical psychology
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Investigación pediátrica española financiada: contribución de Anales de Pediatría a su difusión

2017

Resumen: Objetivo: Identificar la investigación pediátrica española financiada publicada en revistas generales pediátricas incluidas en la WoS (2010-2014) y la de Anales de Pediatría (AP). Explorar la relación de la financiación con el prestigio de las revistas y describir sus condiciones para cumplir los mandatos de acceso abierto. Material y método: La financiación de los artículos publicados en revistas pediátricas generales se identificó utilizando el campo Agencia Financiadora de la WoS y revisando el documento original para AP. Para AP se identificaron las entidades financiadoras de los AF y se valoró la diferencia en la citación de los AF y los no financiados mediante test no paramét…

Scientific impact05 social sciencesPaediatric researchPediatricsRJ1-570Anales de Pediatría03 medical and health sciencesOpen Access0302 clinical medicine030225 pediatricsPediatrics Perinatology and Child Health0509 other social sciences050904 information & library sciencesFundingAnales de Pediatría
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