2024
CT for Congenital Heart Disease
Fuss C. CT for Congenital Heart Disease. 2024, 277-293. DOI: 10.1007/978-981-97-6919-3_21.Peer-Reviewed Original ResearchCongenital heart diseaseHeart diseaseEvaluation of congenital heart diseaseManagement of congenital heart diseaseContrast doseAffected patientsBirth defectsStages of repairRadiation exposureAltered physiologySmall organ sizeCT roleDiseaseVariable stagesCongenitallyPatientsCTDoseSpatial image resolutionComplexity of defectsBirthEffect of Indoor Residual Spraying on Malaria in Pregnancy and Pregnancy Outcomes: A Systematic Review
Oberlin A, Kim T, Erlinger A, Joshi A, Diawara H, Healy S, Dicko A, Duffy P, Hacker M, Wylie B. Effect of Indoor Residual Spraying on Malaria in Pregnancy and Pregnancy Outcomes: A Systematic Review. American Journal Of Tropical Medicine And Hygiene 2024, 112: 253-265. PMID: 39471507, PMCID: PMC11803663, DOI: 10.4269/ajtmh.24-0435.Peer-Reviewed Original ResearchIndoor residual sprayingEffectiveness of indoor residual sprayingPreterm birthBirth outcomesIncreased risk of preterm birthIncidence of malaria parasitemiaRisk of preterm birthResidual sprayingMalaria-endemic areasUrogenital birth defectsFetal/neonatal mortalityMaternal malariaPlacental malariaMalaria parasitemiaObstetric outcomesPerinatal morbidityFetal anomaliesPregnancy outcomesPerinatal mortalityLow birthweightProspective studyPregnancyBirth defectsIncreased riskMalariaS2118 Association Between Congenital Birth Defects and Development of MASH Cirrhosis: Insights From the National Inpatient Sample
Boateng S, Ezeani C, Ameyaw P, Njei B. S2118 Association Between Congenital Birth Defects and Development of MASH Cirrhosis: Insights From the National Inpatient Sample. The American Journal Of Gastroenterology 2024, 119: s1512-s1513. DOI: 10.14309/01.ajg.0001037840.47400.fc.Peer-Reviewed Original ResearchCOVID-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 pregnanciesAXIN1 mutations in nonsyndromic craniosynostosis.
Timberlake A, Hemal K, Gustafson J, Hao L, Valenzuela I, Slavotinek A, Cunningham M, Kahle K, Lifton R, Persing J. AXIN1 mutations in nonsyndromic craniosynostosis. Journal Of Neurosurgery Pediatrics 2024, 34: 246-251. PMID: 38905707, PMCID: PMC11200303, DOI: 10.3171/2024.5.peds24115.Peer-Reviewed Original ResearchSequence dataAXIN1 mutationsCase-parent triosGenome-wide significanceCS casesNonsyndromic CSGenome sequencing projectsWnt signalingExome sequencing dataRNA sequencing dataPhenotypes associated with mutationsSequencing projectsGenetic testingInhibitor of Wnt signalingLive birthsNonsyndromic casesGenetic etiologyGenetic causeCS patientsAXIN1Nonsyndromic craniosynostosisMutationsHealthy controlsBirth defectsExomeStatistical methods for assessing the effects of de novo variants on birth defects
Xie Y, Wu R, Li H, Dong W, Zhou G, Zhao H. Statistical methods for assessing the effects of de novo variants on birth defects. Human Genomics 2024, 18: 25. PMID: 38486307, PMCID: PMC10938830, DOI: 10.1186/s40246-024-00590-z.Peer-Reviewed Original ResearchConceptsDe novo variantsAnalyzed de novo variantsDevelopment of next-generation sequencing technologiesNext-generation sequencing technologiesSequencing technologiesImprove statistical powerGenetic heterogeneitySequenced samplesStatistical powerBirth defectsDiseased individualsLow occurrenceCongenital heart diseaseVariantsGenesDeleterious effectsSequenceGeneral workflowStatistical methodsComplex Congenital Heart Disease in the Adult
Goldstein S, Krasuski R. Complex Congenital Heart Disease in the Adult. Annual Review Of Medicine 2024, 75: 493-512. PMID: 38285514, DOI: 10.1146/annurev-med-050922-052324.Peer-Reviewed Reviews, Practice Guidelines, Standards, and Consensus StatementsConceptsCongenital heart diseaseAdult congenital heart diseaseComplex congenital heart diseaseHeart diseaseSevere birth defectsStructural abnormalitiesBirth defectsComplex lesionsFrequent causeHigh riskImprove outcomesPediatric outcomesHeterogeneous groupPalliative interventionsCardiovascular systemDiseaseAdultsOutcomesComplications
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
2022
No evidence of fetal defects or anti-syncytin-1 antibody induction following COVID-19 mRNA vaccination
Lu-Culligan A, Tabachnikova A, Pérez-Then E, Tokuyama M, Lee HJ, Lucas C, Monteiro V, Miric M, Brache V, Cochon L, Muenker MC, Mohanty S, Huang J, Kang I, Dela Cruz C, Farhadian S, Campbell M, Yildirim I, Shaw AC, Ma S, Vermund SH, Ko AI, Omer SB, Iwasaki A. No evidence of fetal defects or anti-syncytin-1 antibody induction following COVID-19 mRNA vaccination. PLOS Biology 2022, 20: e3001506. PMID: 35609110, PMCID: PMC9129011, DOI: 10.1371/journal.pbio.3001506.Peer-Reviewed Original ResearchConceptsCOVID-19 mRNA vaccinationMRNA vaccinationEarly pregnancyFetal sizeCoronavirus disease 2019 (COVID-19) mRNA vaccinationSevere acute respiratory syndrome coronavirus 2Acute respiratory syndrome coronavirus 2Respiratory syndrome coronavirus 2Maternal antibody statusAdverse neonatal outcomesSyndrome coronavirus 2Birth defectsPolyinosinic-polycytidylic acidCrown-rump lengthGross birth defectsUnvaccinated adultsMaternal illnessNeonatal outcomesVaccinated adultsAntibody statusTLR3 agonistEarly immunizationMurine pregnancyAntibody inductionCoronavirus 2Discovering the Function of Congenital Heart Disease Genes
González D, Khokha M. Discovering the Function of Congenital Heart Disease Genes. 2022, 233-244. DOI: 10.1201/9781003050230-19.Peer-Reviewed Original ResearchLarger brood sizesCongenital heart disease genesCommon congenital birth defectHeart disease genesCongenital heart diseaseLeft-right axisCHD genesCell biologistsOrgan situsBrood sizeLeft-right asymmetryDe novo mutationsDisease genesSequencing studiesBirth defectsCongenital birth defectsGenetic diseasesGenesNovo mutationsDisease mechanismsStructural cardiac abnormalitiesNovel de novo mutationHeart diseaseCardiac abnormalitiesCardiac structure
2021
Xenopus as a platform for discovery of genes relevant to human disease
Kostiuk V, Khokha MK. Xenopus as a platform for discovery of genes relevant to human disease. Current Topics In Developmental Biology 2021, 145: 277-312. PMID: 34074532, PMCID: PMC8734201, DOI: 10.1016/bs.ctdb.2021.03.005.Peer-Reviewed Original ResearchConceptsCandidate genesHuman diseasesDiscovery of genesScreen candidate genesMultiple candidate genesPatient genomic dataHuman genomePatient phenotypesDisease pathogenesisGenomic dataComplex phenotypesFate mapGene knockoutKnockdown strategyPatient mutationsBirth defectsXenopusFunctional studiesGenesPhenotypeCongenital birthAbnormal developmentCongenital heart diseaseCause of deathBetter diagnostic methodsAssociation of Inadvertent 9-Valent Human Papillomavirus Vaccine in Pregnancy With Spontaneous Abortion and Adverse Birth Outcomes
Kharbanda EO, Vazquez-Benitez G, DeSilva MB, Naleway AL, Klein NP, Hechter RC, Glanz JM, Donahue JG, Jackson LA, Sheth SS, Greenberg V, Panagiotakopoulos L, Mba-Jonas A, Lipkind HS. Association of Inadvertent 9-Valent Human Papillomavirus Vaccine in Pregnancy With Spontaneous Abortion and Adverse Birth Outcomes. JAMA Network Open 2021, 4: e214340. PMID: 33818618, PMCID: PMC8022219, DOI: 10.1001/jamanetworkopen.2021.4340.Peer-Reviewed Original ResearchConceptsVaccine exposureHuman papillomavirus vaccineAdverse birth outcomesBirth outcomesSGA birthLive birthsPapillomavirus vaccinePreterm birthSpontaneous abortionCox proportional hazards regression modelProportional hazards regression modelsVaccine Safety DatalinkMean maternal ageMedical record reviewAge 45 yearsTime of pregnancyHazards regression modelsBirth defectsMajor structural birth defectsAge 26 yearsElectronic health recordsCohort studySingleton pregnanciesFinal cohortRecord review
2020
Vitamin B12 and folic acid alleviate symptoms of nutritional deficiency by antagonizing aryl hydrocarbon receptor
Kim DJ, Venkataraman A, Jain PC, Wiesler EP, DeBlasio M, Klein J, Tu SS, Lee S, Medzhitov R, Iwasaki A. Vitamin B12 and folic acid alleviate symptoms of nutritional deficiency by antagonizing aryl hydrocarbon receptor. Proceedings Of The National Academy Of Sciences Of The United States Of America 2020, 117: 15837-15845. PMID: 32571957, PMCID: PMC7355044, DOI: 10.1073/pnas.2006949117.Peer-Reviewed Original ResearchConceptsAryl hydrocarbon receptorMethylation of DNAHuman cancer samplesHydrocarbon receptorAhR transcriptional activityAhR target genesFA deficiencyOne-carbon cycleAhR agonistsFolic acid functionAhR nuclear localizationLower transcriptionNuclear localizationTarget genesGene inductionHigher transcriptionTranscriptional activityXRE bindingDe novo generationCycle proteinsBirth defectsErythroid progenitorsFas functionMolecular levelFA uptakeDisrupted ER membrane protein complex-mediated topogenesis drives congenital neural crest defects
Marquez J, Criscione J, Charney RM, Prasad MS, Hwang WY, Mis EK, García-Castro MI, Khokha MK. Disrupted ER membrane protein complex-mediated topogenesis drives congenital neural crest defects. Journal Of Clinical Investigation 2020, 130: 813-826. PMID: 31904590, PMCID: PMC6994125, DOI: 10.1172/jci129308.Peer-Reviewed Original ResearchConceptsEndoplasmic reticulum (ER) membrane protein complexMultipass membrane proteinsNeural crest cellsMembrane proteinsHuman NCC developmentER membrane proteinsMembrane protein complexesCell-cell signalsMyriad of functionsNCC defectsNCC developmentProtein complexesUnbiased proteomicsXenopus modelTransmembrane proteinFunction allelesPatient phenotypesCrest cellsMolecular connectionNeural crestMolecular mechanismsBirth defectsPatient variantsEMC1Β-catenin
2018
Bowel management in children with spina bifida
Ambartsumyan L, Rodriguez L. Bowel management in children with spina bifida. Journal Of Pediatric Rehabilitation Medicine 2018, Preprint: 1-9. DOI: 10.3233/prm-180533.Peer-Reviewed Original ResearchQuality of lifeSpina bifidaBowel managementTreatment optionsSuccessful bowel management programTrans-anal irrigationBowel management programDevelopmental ageContinence enemaBladder dysfunctionStool consistencyBowel movementsFecal continenceOral laxativesSocial continenceConservative interventionsTreatment approachesChild's developmental ageBifidaBirth defectsContinenceVariable practiceChildrenEmotional wellbeingStepwise approachBowel management in children with spina bifida
Ambartsumyan L, Rodriguez L. Bowel management in children with spina bifida. Journal Of Pediatric Rehabilitation Medicine 2018, 11: 293-301. PMID: 30507592, DOI: 10.3233/prm-170533.Peer-Reviewed Original ResearchConceptsQuality of lifeSpina bifidaBowel managementTreatment optionsSuccessful bowel management programTrans-anal irrigationBowel management programDevelopmental ageContinence enemaBladder dysfunctionStool consistencyBowel movementsFecal continenceOral laxativesSocial continenceConservative interventionsTreatment approachesChild's developmental ageBifidaBirth defectsContinenceVariable practiceChildrenEmotional wellbeingStepwise approachThe Role of Integrated Care in a Medical Home for Patients With a Fetal Alcohol Spectrum Disorder
Turchi R, Smith V, Ryan S, Camenga D, Patrick S, Plumb J, Quigley J, Walker-Harding L, Kuo D, Apkon S, Brei T, Davidson L, Davis B, Ellerbeck K, Hyman S, Leppert M, Noritz G, Stille C, Yin L. The Role of Integrated Care in a Medical Home for Patients With a Fetal Alcohol Spectrum Disorder. Pediatrics 2018, 142: e20182333. PMID: 30201625, DOI: 10.1542/peds.2018-2333.Peer-Reviewed Reviews, Practice Guidelines, Standards, and Consensus StatementsConceptsFetal alcohol spectrum disordersPrenatal alcohol exposureAlcohol spectrum disordersAlcohol exposureClinical reportsPrevious clinical reportsPreventable birth defectsMedical homeSpectrum disorderDiagnostic criteriaClinical practicePediatricians' awarenessAmerican AcademyIntegrated careBirth defectsDevelopmental disabilitiesDisordersChildrenExposureReportPatientsPediatriciansManagementPediatricsDiagnosisResidential mobility during pregnancy in Urban Gansu, China
Tang Z, Zhang H, Bai H, Chen Y, Zhao N, Zhou M, Cui H, Lerro C, Lin X, Lv L, Zhang C, Zhang H, Xu R, Zhu D, Dang Y, Han X, Xu X, Lin R, Yao T, Su J, Ma B, Liu X, Wang Y, Wang W, Liu S, Luo J, Huang H, Liang J, Jiang M, Qiu W, Bell ML, Qiu J, Liu Q, Zhang Y. Residential mobility during pregnancy in Urban Gansu, China. Health & Place 2018, 53: 258-263. PMID: 30196043, PMCID: PMC6556377, DOI: 10.1016/j.healthplace.2018.08.021.Peer-Reviewed Original ResearchConceptsBirth outcomesMaternal complicationsPregnant womenLow birth weightAdverse birth outcomesEnvironmental exposuresBirth cohort studyMultivariate logistic regressionTime of deliveryCohort studyPreterm birthThird trimesterBirth weightMaternal characteristicsMaternal residencePregnancyLogistic regressionComplicationsExposure misclassificationAsian populationsLower likelihoodBirth defectsDisease associationsOutcomesExposure
2017
Modeling neuro-immune interactions during Zika virus infection
Mesci P, Macia A, LaRock CN, Tejwani L, Fernandes IR, Suarez NA, de A. Zanotto PM, Beltrão-Braga PCB, Nizet V, Muotri AR. Modeling neuro-immune interactions during Zika virus infection. Human Molecular Genetics 2017, 27: 41-52. PMID: 29048558, PMCID: PMC5886060, DOI: 10.1093/hmg/ddx382.Peer-Reviewed Original ResearchConceptsNeuro-immune interactionsZika virus infectionVirus infectionSerious neurologic complicationsAntiviral immune responsePro-inflammatory responseSimilar pro-inflammatory responsesNeural precursor cellsNew therapeutic drugsZIKV pathologyHepatitis CNeurologic complicationsMicroglia interactionsHuman microgliaImmune responseViral infectionBrazilian ZIKVMicrogliaInfectionNeural cellsTherapeutic drugsBirth defectsPrecursor cellsDrugsHuman tissuesZika Virus and Sexual Transmission: A New Route of Transmission for Mosquito-borne Flaviviruses.
Hastings AK, Fikrig E. Zika Virus and Sexual Transmission: A New Route of Transmission for Mosquito-borne Flaviviruses. The Yale Journal Of Biology And Medicine 2017, 90: 325-330. PMID: 28656018, PMCID: PMC5482308.Peer-Reviewed Original ResearchConceptsSexual transmissionZika virusWorld Health OrganizationWest Nile virusAcute onset paralysisUnprotected sexual contactRoutes of transmissionNew global epidemicSevere birth defectsBody achesMild feverAnimal modelsInfected mosquitoesVaginal secretionsViral infectionMain mosquito vectorGlobal epidemicFlaviviridae familyImportant human pathogenSexual contactDisease controlHealth OrganizationZika transmissionNile virusBirth defects
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