2025
Animal models of Chiari malformation types 1 and 2: Mechanistic insights and translational challenges
Davalan W, Li Q, Hale A, Fan B, Duy P, Mehta N, Alper S, Kundishora A, Muñoz W, Dennis E, Allington G, Mekbib K, Butler W, Kahle K. Animal models of Chiari malformation types 1 and 2: Mechanistic insights and translational challenges. Experimental Neurology 2025, 395: 115473. PMID: 40992613, DOI: 10.1016/j.expneurol.2025.115473.Peer-Reviewed Original ResearchChiari malformationAnimal modelsCerebrospinal fluidChiari malformation type 1Review of animal modelsEtiology-specific therapyPreclinical animal modelsNeural tube defectsCranial base developmentCM pathogenesisFetal sheepCSF leakagePrenatal treatmentNeural tube closureTube defectsSpontaneous modelPathophysiological insightsTranslational relevanceType 1Cerebellar herniationHuman patientsSurgical modelCerebrospinal fluid physiologyTranslational challengesTranslational importance
2024
COVID-19 Vaccination in the First Trimester and Major Structural Birth Defects Among Live Births
Kharbanda E, DeSilva M, Lipkind H, Romitti P, Zhu J, Vesco K, Boyce T, Daley M, Fuller C, Getahun D, Jackson L, Williams J, Zerbo O, Weintraub E, Vazquez-Benitez G. COVID-19 Vaccination in the First Trimester and Major Structural Birth Defects Among Live Births. JAMA Pediatrics 2024, 178: 823-829. PMID: 38949821, PMCID: PMC11217887, DOI: 10.1001/jamapediatrics.2024.1917.Peer-Reviewed Original ResearchStructural birth defectsLive-born infantsFirst-trimesterBirth defectsCOVID-19 vaccineLive birthsRetrospective cohort study of singleton pregnanciesStudy of singleton pregnanciesVaccine exposureMessenger RNA COVID-19 vaccineMessenger RNAFirst-trimester vaccinationMRNA COVID-19 vaccinePrevent pregnancy complicationsRetrospective cohort studyStabilized inverse probability weightsElectronic health dataNeural tube defectsMedical record reviewMultisite cohort studyLMP dateVaccine Safety DatalinkCOVID-19 vaccine dosesSingleton pregnanciesEligible pregnanciesFetal surgery for open neural tube defect with severe ventriculomegaly
Mitts M, Whitehead W, Corroenne R, Johnson R, Donepudi R, Espinoza J, Shamshirsaz A, Cortes M, Belfort M, Nassr A. Fetal surgery for open neural tube defect with severe ventriculomegaly. Ultrasound In Obstetrics And Gynecology 2024, 64: 65-70. PMID: 38224552, DOI: 10.1002/uog.27585.Peer-Reviewed Original ResearchConceptsOpen neural tube defectsPostnatal repair groupOutcome of fetusesSevere ventriculomegalyFetal surgeryPrenatal repair groupPrenatal repairRepair groupPostnatal repairNeural tube defectsHydrocephalus treatmentPostnatal outcomeVentricular sizePostnatal outcome of fetusesRetrospective study of fetusesTube defectsPrenatal ONTD repairStudy of fetusesMotor functionLower extremitiesPresence of club footMultivariate regression analysisTime of referralMagnetic resonance imagingGestational agePaediatric hydrocephalus
Kahle K, Klinge P, Koschnitzky J, Kulkarni A, MacAulay N, Robinson S, Schiff S, Strahle J. Paediatric hydrocephalus. Nature Reviews Disease Primers 2024, 10: 35. PMID: 38755194, PMCID: PMC12091269, DOI: 10.1038/s41572-024-00519-9.Peer-Reviewed Original ResearchConceptsSymptoms of elevated intracranial pressureCerebrospinal fluidCentral nervous system infectionChoroid plexus cauterizationEndoscopic third ventriculostomyNervous system infectionNonsurgical treatment strategiesElevated intracranial pressureLong-term outcomesNeural tube defectsCSF-brain interfaceFetal hydrocephalusUtero treatmentAcquired hydrocephalusCSF secretionSurgical closureCSF shuntingHead circumferenceThird ventriculostomyCongenital hydrocephalusAssociated with blockageGene mutationsCerebral ventricleTreatment strategiesCSF pathways
2023
Residential proximity to unconventional oil and gas development and birth defects in Ohio
Gaughan C, Sorrentino K, Liew Z, Johnson N, Clark C, Soriano M, Plano J, Plata D, Saiers J, Deziel N. Residential proximity to unconventional oil and gas development and birth defects in Ohio. Environmental Research 2023, 229: 115937. PMID: 37076028, PMCID: PMC10198955, DOI: 10.1016/j.envres.2023.115937.Peer-Reviewed Original ResearchConceptsNeural tube defectsCertain birth defectsBirth defectsOdds ratioRegistry-based cohort studyTube defectsConfidence intervalsResidential proximityState birth recordsBirth defect typeState surveillance systemsMaternal residential proximityLimb reduction defectsCohort studyUnexposed mothersStructural birth defectsLive birthsInfant sexBirth recordsSpina bifidaReduction defectsFemale offspringDevelopmental toxicantsExposure metrics
2021
Diffusion weighted imaging as a biomarker of retinoic acid induced myelomeningocele
Maassel N, Farrelly J, Coman D, Freedman-Weiss M, Ahle S, Ullrich S, Yung N, Hyder F, Stitelman D. Diffusion weighted imaging as a biomarker of retinoic acid induced myelomeningocele. PLOS ONE 2021, 16: e0253583. PMID: 34191842, PMCID: PMC8244849, DOI: 10.1371/journal.pone.0253583.Peer-Reviewed Original ResearchConceptsMagnetic resonance imaging techniquesSpinal cordRat fetusesRetinoic acidCommon congenital anomalyComplementary imaging biomarkerLack of skinNeural tube defectsTrans retinoic acidBony coveringRat damsCongenital anomaliesRat modelExperimental therapiesHistopathologic analysisSevere formBrain volumeMyelomeningoceleImaging biomarkersDisease severityMMC defectsTube defectsIncomplete closureFetusesFractional anisotropy (FA) maps
2010
Cilia in cell signaling and human disorders
Duldulao NA, Li J, Sun Z. Cilia in cell signaling and human disorders. Protein & Cell 2010, 1: 726-736. PMID: 21203914, PMCID: PMC4875200, DOI: 10.1007/s13238-010-0098-7.Peer-Reviewed Original ResearchConceptsRole of ciliaUnrelated human diseasesMulticellular organismsVestigial organelleCell signalingCellular organellesNormal organogenesisHuman disordersHuman diseasesCiliaKidney cystsOrganellesSensory roleNeural tube defectsCiliogenesisOrganogenesisDevelopmental disordersMotileOrganismsSignalingTube defectsRoleDefects
2001
Nutrition knowledge, attitudes, and behaviors among Latinos in the USA: Influence of language
Pérez‐Escamilla R, Himmelgreen D, Bonello H, González A, Haldeman L, Méndez I, Segura‐Millán S. Nutrition knowledge, attitudes, and behaviors among Latinos in the USA: Influence of language. Ecology Of Food And Nutrition 2001, 40: 321-345. DOI: 10.1080/03670244.2001.9991657.Peer-Reviewed Original ResearchFood Guide PyramidInfluence of languageNutrition knowledgeLanguage useNutrition informationUSDA Food Guide PyramidFood labelsYears of ageNeural tube defectsLatina respondentsTraditional patternsPuerto RicansFriends/relativesHigh school educationNutrition attitudesTube defectsLatino neighborhoodsAttitudesFood consumptionSchool educationLatinosEnglishHomeLanguageSpanish
1998
New triple screen test for Down syndrome: Combined urine analytes and serum AFP
Bahado‐Singh R, Oz U, Kovanci E, Cermik D, Flores D, Copel J, Mahoney M, Cole L. New triple screen test for Down syndrome: Combined urine analytes and serum AFP. The Journal Of Maternal-Fetal Medicine 1998, 7: 111-114. PMID: 9642606, DOI: 10.1002/(sici)1520-6661(199805/06)7:3<111::aid-mfm2>3.0.co;2-n.Peer-Reviewed Original ResearchConceptsSerum AFPIndividual Down syndrome oddsMaternal ageTriple screenUrine beta-core fragmentDown syndromeTriple testTriple screen testBeta-core fragmentDown syndrome casesNeural tube defectsDown's syndrome likelihood ratiosEstriol levelsLarge trialsSecond trimesterUrine testsPositive rateEstriol ratioSyndrome casesTube defectsScreen testFalse positive rateAFP dataUrine analytesAFPNew triple screen test for down syndrome: Combined urine analytes and serum AFP
Bahado-Singh R, Oz U, Kovanci E, Cermik D, Flores D, Copel J, Mahoney M, Cole L. New triple screen test for down syndrome: Combined urine analytes and serum AFP. The Journal Of Maternal-Fetal Medicine 1998, 7: 111-114. DOI: 10.3109/14767059809020424.Peer-Reviewed Original ResearchSerum AFPIndividual Down syndrome oddsMaternal ageTriple screenDown syndromeTriple testTriple screen testΒ-core fragmentDown syndrome casesNeural tube defectsDown's syndrome likelihood ratiosEstriol levelsLarge trialsSecond trimesterUrine testsPositive rateEstriol ratioSyndrome casesTube defectsScreen testFalse positive rateAFP dataUrine analytesAFPSyndrome
1997
Folic acid supplementation for the prevention of neural tube defects. Should it be a priority for developing countries?
Perez-escamilla R. Folic acid supplementation for the prevention of neural tube defects. Should it be a priority for developing countries? UNSCN Nutrition 1997, 34-5. PMID: 12293181.Peer-Reviewed Original Research
1995
Folic acid fortification for the prevention of neural tube defects: consensus needed on potential adverse effects.
Pérez-Escamilla R. Folic acid fortification for the prevention of neural tube defects: consensus needed on potential adverse effects. American Journal Of Public Health 1995, 85: 1587-8. PMID: 7485680, PMCID: PMC1615678, DOI: 10.2105/ajph.85.11.1587-a.Peer-Reviewed Original ResearchPericonceptional folic acid and neural tube defects: public health issues.
Pérez-Escamilla R. Periconceptional folic acid and neural tube defects: public health issues. 1995, 29: 250-63. PMID: 8520610.Peer-Reviewed Original ResearchConceptsNeural tube defectsFolic acid supplementationPublic health issueAcid supplementationUnfavorable benefit/risk ratioPericonceptional folic acid intakeTube defectsBenefit/risk ratioRecurrent neural tube defectsHealth issuesFolic acidFolic acid intakePericonceptional folic acidDietary counselingPrimary preventionAcid intakeNTD pregnanciesRisk ratioProtective effectLow prevalenceFood fortificationMedical guidanceLow dosagePericonceptionSupplementation
1993
Ultrasound screening for fetal structural anomalies
Gomez K, Copel J. Ultrasound screening for fetal structural anomalies. Current Opinion In Obstetrics & Gynecology 1993, 5: 204-210. PMID: 8490090, DOI: 10.1097/00001703-199304000-00006.Peer-Reviewed Reviews, Practice Guidelines, Standards, and Consensus StatementsConceptsFetal structural anomaliesStructural anomaliesRoutine ultrasound screeningFour-chamber viewNeural tube defectsRoutine ultrasoundUltrasound screeningHigh riskUltrasound prenatal diagnosisTube defectsUltrasoundPregnancyPrenatal diagnosisDiagnostic ultrasoundControversial topicPatientsObstetricsFetusesAmniocentesisDiagnosis
1992
Congental Defects and Electric Bed Heating in New York State: A Register-based Case-Control Study
Dlugosz L, Vena J, Byers T, Sever L, Bracken M, Marshall E. Congental Defects and Electric Bed Heating in New York State: A Register-based Case-Control Study. American Journal Of Epidemiology 1992, 135: 1000-1011. PMID: 1595686, DOI: 10.1093/oxfordjournals.aje.a116394.Peer-Reviewed Original ResearchMeSH KeywordsAdultBedsCase-Control StudiesCleft LipCleft PalateConfidence IntervalsConfounding Factors, EpidemiologicEducational StatusElectricityEmploymentFemaleFeverHeatingHumansInfant, NewbornMaleMaternal AgeNeural Tube DefectsNew YorkOdds RatioParityRacial GroupsRegistriesResidence CharacteristicsRisk FactorsSex FactorsSmokingSurveys and QuestionnairesVitaminsConceptsCase-control studyCleft palateOdds ratioCleft lipCongenital defectsOral cleft defectsRespective odds ratiosNew York State Congenital Malformations RegistryConfidence intervalsElectric blanket usePotential confounding factorsCongenital Malformations RegistryNeural tube defectsOdds ratio estimatesElectric blanketHeated waterbedsNew York residentsSeason of conceptionLast mensesRisk factorsChildhood cancerMaternal raceCleft defectsConfounding factorsMalformations Registry
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