Search results for " TRIM"

showing 10 items of 154 documents

Familial fatal fetal cardiomyopathy with isolated myocardial calcifications: A new syndrome?

2001

We describe three male sib fetuses with isolated myocardial calcifications resulting in intrauterine fetal death (IUFD) as early as the second trimester. No evidence for an underlying mitochondrial cytopathy, dystrophinopathy or myopathy was found. There were no signs of inflammation or a metabolic disorder, and the mother had no prenatal exposure of teratogenic drugs. Furthermore, no mutation in the Barth syndrome gene (G4.5) could be detected. Because isolated calcification of the heart and IUFD are not typical of any previously described inherited cardiomyopathy, it may represent a new familial fetal cardiomyopathy.

MaleMyocardial calcificationPathologymedicine.medical_specialtyHeart diseaseCardiomyopathyUltrasonography PrenatalFatal OutcomeFetusPregnancymedicineHumansMyopathyFetal DeathGenetics (clinical)Family HealthFetusbusiness.industryMyocardiumMetabolic disorderCalcinosisBarth syndromeSyndromemedicine.diseasePregnancy ComplicationsFetal DiseasesPregnancy Trimester Secondembryonic structuresFemalemedicine.symptomCardiomyopathiesbusinessCalcificationAmerican Journal of Medical Genetics
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Thyroid Function in Early Pregnancy, Child IQ, and Autistic Traits: A Meta-Analysis of Individual Participant Data

2018

Context: Low maternal free T4 (FT4) has been associated with poor child neurodevelopment in some single-center studies. Evidence remains scarce for the potential adverse effects of high FT4 and whether associations differ in countries with different iodine status. Objective: To assess the association of maternal thyroid function in early pregnancy with child neurodevelopment in countries with a different iodine status. Design, Setting, and Participants: Meta-analysis of individual participant data from 9036 mother–child pairs from three prospective population-based birth cohorts: INMA [Infancia y Medio Ambiente (Environment and Childhood project) (Spain)], Generation R (Netherlands), and AL…

MalePediatricsEndocrinology Diabetes and MetabolismIntelligenceClinical BiochemistryThyroid GlandThyrotropinThyroid Function TestsBiochemistryChild Development0302 clinical medicineEndocrinologyPregnancyRisk FactorsLongitudinal Studies030212 general & internal medicineYoung adultChildeducation.field_of_studymedicine.diagnostic_testThyroid disease3. Good healthChild PreschoolPrenatal Exposure Delayed EffectsFemaleGeneration RThyroid functionAdultmedicine.medical_specialtyPopulationMothersGestational Age030209 endocrinology & metabolismThyroid function testsYoung Adult03 medical and health sciencesInternal medicinemedicineHumansAutistic DisordereducationPregnancybusiness.industryBiochemistry (medical)Infantmedicine.diseaseThyroid DiseasesChild developmentPregnancy ComplicationsPregnancy Trimester FirstThyroxineEndocrinologybusinessJournal of Clinical Endocrinology and Metabolism
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Vitamin D in Pregnancy and Attention Deficit Hyperactivity Disorder-like Symptoms in Childhood

2015

Vitamin D status during prenatal brain development may influence risk of attention deficit and hyperactivity disorder (ADHD) symptoms in childhood. However, there are no prospective studies addressing this hypothesis. We aimed to examine whether maternal vitamin D status in pregnancy is associated with risk of ADHD-like symptoms in offspring.We conducted a prospective study analyzing data from 1,650 mother-child pairs from five birth cohorts embedded in the INMA Project (Spain, 1997-2008). Maternal vitamin D status in pregnancy was estimated by measuring plasma concentration of 25-hydroxyvitamin D3 [25(OH)D3] at 13 weeks of gestation. Children were assessed by teachers for ADHD-like symptom…

MalePediatricsmedicine.medical_specialtyEpidemiologyMEDLINECohort StudiesPregnancyVitamin D and neurologymedicineHumansAttention deficit hyperactivity disorderProspective StudiesProspective cohort studyCalcifediolPregnancybusiness.industryIncidenceIncidence (epidemiology)Vitamin D Deficiencymedicine.diseasePregnancy ComplicationsPregnancy Trimester FirstAttention Deficit Disorder with HyperactivitySpainChild PreschoolPrenatal Exposure Delayed EffectsLinear ModelsAttention deficitFemalebusinessCohort studyEpidemiology
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Phenotype severity in the bladder exstrophy-epispadias complex: analysis of genetic and nongenetic contributing factors in 441 families from North Am…

2011

Objective To identify genetic and nongenetic risk factors that contribute to the severity of the bladder exstrophy-epispadias complex (BEEC). Study design Patients with BEEC from North America (n = 167) and Europe (n = 274) were included. The following data were collected: associated anomalies, parental age at conception, mode of conception, periconceptional folic acid supplementation, maternal risk factors during pregnancy, and environmental risk factors. The patients were divided into 3 subgroups according to phenotype severity: (i) mild, epispadias (n = 43); (ii) intermediate, classic bladder exstrophy (n = 366); and (iii) severe, cloacal exstrophy (n = 31). These subgroups then were com…

MalePediatricsmedicine.medical_treatmentSeverity of Illness IndexIntracytoplasmic sperm injectionPregnancyRisk FactorsSurveys and QuestionnairesSmokingPrenatal CareMiddle AgedCleft PalateEuropePhenotypeVitamin B ComplexFemaleAntacidsMaternal AgeAdultmedicine.medical_specialtyEpispadiasCleft Lip610 Medicine & healthmacromolecular substancesEpispadiasPrenatal careFertilization in VitroGenetic determinismPaternal AgeArticleFolic AcidSeverity of illnessmedicineHumans10220 Clinic for Surgery2735 Pediatrics Perinatology and Child HealthSperm Injections IntracytoplasmicSex DistributionPregnancybusiness.industryBladder Exstrophymedicine.diseaseCloacal exstrophySurgeryBladder exstrophyRadiographyPregnancy Trimester FirstPediatrics Perinatology and Child HealthNorth AmericabusinessThe Journal of pediatrics
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Integrated and diurnal indices of maternal pregnancy cortisol in relation to sex-specific parasympathetic responsivity to stress in infants.

2020

Maternal hypothalamic-pituitary-adrenal (HPA) axis activity may prenatally program sex-specific stress response pathways. We investigated associations between maternal cortisol during pregnancy and infant parasympathetic responsivity to stress among 204 mother-infant pairs. Cortisol indices included 3(rd) trimester hair cortisol, as well as diurnal slope and area under the curve, derived from saliva samples collected during pregnancy. Mother-infant dyads participated in the Repeated Still-Face Paradigm (SFP-R) at age 6 months. We calculated respiration-adjusted respiratory sinus arrhythmia (RSA(c)), an indicator of parasympathetic activation, from infant respiration and cardiac activity mea…

MaleSalivaendocrine systemHypothalamo-Hypophyseal SystemHydrocortisonePhysiologyMothersPituitary-Adrenal System3rd trimesterArticle03 medical and health sciencesBehavioral Neuroscience0302 clinical medicineDevelopmental NeurosciencePregnancyRespirationDevelopmental and Educational PsychologymedicineHumans0501 psychology and cognitive sciencesVagal toneSalivaPregnancybusiness.industry05 social sciencesArea under the curveInfantmedicine.diseaseSex specificPrenatal Exposure Delayed EffectsAutonomic reactivityFemalebusiness030217 neurology & neurosurgeryhormones hormone substitutes and hormone antagonistsStress Psychological050104 developmental & child psychologyDevelopmental BiologyDevelopmental psychobiology
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Association of Maternal Iodine Status With Child IQ: A Meta-Analysis of Individual Participant Data

2019

Abstract Context Although the consequences of severe iodine deficiency are beyond doubt, the effects of mild to moderate iodine deficiency in pregnancy on child neurodevelopment are less well established. Objective To study the association between maternal iodine status during pregnancy and child IQ and identify vulnerable time windows of exposure to suboptimal iodine availability. Design Meta-analysis of individual participant data from three prospective population-based birth cohorts: Generation R (Netherlands), INMA (Spain), and ALSPAC (United Kingdom); pregnant women were enrolled between 2002 and 2006, 2003 and 2008, and 1990 and 1992, respectively. Setting General community. Participa…

Maleinma motherPediatricsEndocrinology Diabetes and MetabolismClinical BiochemistryIntelligenceThyroid Glandpopulationneurocognitive developmentthyroid-functionoutcomesBiochemistry0302 clinical medicineEndocrinologyPregnancyProspective Studies030212 general & internal medicineProspective cohort studyChildNetherlandsThyroideducation.field_of_studyneurodevelopmentdeficiencycohort16. Peace & justiceWomen's cancers Radboud Institute for Health Sciences [Radboudumc 17]3. Good healthMaternal ExposureChild PreschoolPrenatal Exposure Delayed EffectsMeta-analysisCohortFemaleGeneration RPregnancy TrimestersThyroid functionPsychologypregnant-womenIodineClinical psychologyAdultmedicine.medical_specialtyPopulation030209 endocrinology & metabolismContext (language use)03 medical and health sciencesInternal medicinemedicineHumanseducationAssociation (psychology)Clinical Research ArticlesPregnancybusiness.industryIndividual participant dataBiochemistry (medical)Infantmedicine.diseaseIodine deficiencyUnited KingdomPregnancy ComplicationsEndocrinologyNeurodevelopmental DisordersSpainsupplementationbusiness
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Report on Intrauterine Drug Exposure During Second Trimester of Pregnancy in a Heroin-Associated Death

1999

A 17-year-old girl was found dead in a public toilet with fresh needle puncture marks. She was 18-20 weeks pregnant with a male fetus. Drug screening of her blood and urine indicated recent heroin use. Chronic drug use was confirmed by hair analysis. Amniotic fluid as well as fetal and maternal tissues and body fluids were analyzed by GC/MS and HPLC. All the fetal specimens were investigated, and the following levels of drugs were found: 6-monoacetyl-morphine (blood: 152 ng/g; amniotic fluid: 128 ng/g; brain: 140 ng/g; lung: 110 ng/g; liver: 2 ng/g; kidney: 40 ng/g), morphine (blood: 1360 ng/g; amniotic fluid: 604 ng/g; brain: 710 ng/g; lung: 1030 ng/g; liver: 2060 ng/g; kidney: 1100 ng/g),…

Malemedicine.medical_specialtyAmniotic fluidAdolescentUrineGas Chromatography-Mass SpectrometryFatal OutcomeFetusPharmacokineticsPregnancyInternal medicinemedicineHumansTissue DistributionPharmacology (medical)Maternal-Fetal ExchangePharmacologyMorphine DerivativesKidneyFetusCodeinebusiness.industryHair analysisAmniotic FluidOpioid-Related DisordersBody FluidsHeroinPregnancy Complicationsmedicine.anatomical_structureFetal circulationEndocrinologyPregnancy Trimester SecondGestationFemaleAutopsybusinessHairTherapeutic Drug Monitoring
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Prenatal Se concentrations and anthropometry at birth in the INMA study (Spain).

2020

Abstract We assessed whether prenatal selenium (Se) exposure is associated with anthropometry at birth, placental weight and gestational age. Study subjects were 1249 mother-child pairs from the Valencia and Gipuzkoa cohorts of the Spanish Childhood and Environment Project (INMA, 2003–2008). Se was determined in serum samples taken at the first trimester of pregnancy. Socio-demographic and dietary characteristics were also collected by questionnaires. Mean (SD) serum Se concentration was 79.57 (9.64) μg/L. Se showed weak associations with both head circumference and gestational age. The association between serum Se concentration and birth weight and length was negative, and direct for place…

Malemedicine.medical_specialtyBirth weight010501 environmental sciences01 natural sciencesBiochemistry03 medical and health sciencesSelenium0302 clinical medicinePregnancyStatistical significancemedicineBirth WeightHumans030212 general & internal medicineChild0105 earth and related environmental sciencesGeneral Environmental SciencePregnancyAnthropometryObstetricsbusiness.industryInfant NewbornParturitionGestational ageAnthropometrymedicine.diseaseHead circumferenceFirst trimesterMaternal ExposureSpainGestationFemalebusinessEnvironmental research
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Chernobyl exposure as stressor during pregnancy and hormone levels in adolescent offspring

2008

Background: Animal research suggests a programming effect of prenatal stress in the fetal period, resulting in disruptions in behavioural and neuromotor development. Physiological changes that mediate these effects include alterations in the hypothalamic-pituitary-adrenal axis and in testosterone levels. This human study focuses on changes related to these physiological systems after prenatal stress exposure. Methods: We examined the potential effect of prenatal stress associated with the Chernobyl disaster in an ongoing genetic epidemiological study in Finland. One birth cohort of twins (n = 121 twin pairs) was exposed in utero to maternal stress, and their saliva cortisol and testosterone…

Malemedicine.medical_specialtyHypothalamo-Hypophyseal SystemAdolescentHydrocortisoneEpidemiologyPrenatal ProgrammingPopulationPituitary-Adrenal SystemraskausArticle03 medical and health sciences0302 clinical medicinePregnancyInternal medicineMedicineHumansTestosteroneeducationSalivaFinland030304 developmental biologyHydrocortisone0303 health sciencesPregnancyeducation.field_of_studybusiness.industryStressorPubertyPublic Health Environmental and Occupational HealthTestosterone (patch)medicine.diseaseTwin studyPregnancy ComplicationsEndocrinologyPrenatal stressChernobyl Nuclear AccidentMaternal ExposurePrenatal Exposure Delayed EffectsFemalePregnancy Trimestersbusiness030217 neurology & neurosurgeryStress Psychologicalmedicine.drug
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Proton sponge lead halides containing 1D polyoctahedral chains

2021

Hybrid one-dimensional lead halides, containing the protonated 1,8-bis(dimethylamino)naphthalene moiety (C14H19N2, monoprotonated "proton sponge"), were prepared by simple one-pot methods and investigated in terms of crystal structure, morphology, thermal stability and electronic properties. The as-precipitated (C14H19N2)PbBr3 and (C14H19N2)PbI3 species are isostructural and crystallize in the orthorhombic Pbca space group, resulting in 1D crystal phases with ([PbX3](-))(infinity) chains (built by face-sharing [PbX6] octahedra; X = Br, I), among which the (C14H19N2)(+) cations are inserted. The two compounds display complete miscibility in the solid state: both (C14H19N2)PbI2Br and (C14H19N…

Materials science1D-pseudo perovskiteBand gapGeneral ChemistryCrystal structureCondensed Matter PhysicsCrystalhybrid lead halides trimethylsulfoxonium powder diffraction solid solution ionic defectivity periodic DFT calculationsCrystallographyOctahedronPhase (matter)General Materials ScienceOrthorhombic crystal systemThermal stabilityIsostructuralCrystEngComm
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