2025
Cenobamate and pregnancy: A-single level 4 epilepsy center experience
Jimenez A, Toghramadjian I, Okafor C, Hanin A, Zhou X, Dorotan M, Nuthalapati P, Sakya S, Hirsch L, Altalib H, Lazorwitz A, Herlopian A. Cenobamate and pregnancy: A-single level 4 epilepsy center experience. Epilepsy & Behavior 2025, 169: 110440. PMID: 40318387, DOI: 10.1016/j.yebeh.2025.110440.Peer-Reviewed Original ResearchConceptsConcentration-to-dose ratioPost-partum periodUnintended pregnancyContraceptive methodsSingle-center retrospective chart reviewFemales of childbearing ageEarly-term birthPrevent unintended pregnancyAdult female patientsDrug level monitoringMonths of agePre-conceptual counsellingElective terminationSpontaneous miscarriagePregnancy outcomesCongenital malformationsFemale patientsHormonal contraceptionChildbearing ageMedical comorbiditiesCenobamatePregnancyContraceptive usePharmacokinetic profilePatientsZika virus: advancing a priority research agenda for preparedness and response
Lackritz E, Ng L, Marques E, Rabe I, Bourne N, Staples J, Méndez-Rico J, Harris E, Brault A, Ko A, Beasley D, Leighton T, Wilder-Smith A, Ostrowsky J, Mehr A, Ulrich A, Velayudhan R, Golding J, Fay P, Cehovin A, Moua N, Moore K, Osterholm M, Barrett A, Workgroup Z, Waldorf K, Barrett A, Beasley D, Bennie J, Bourne N, Brault A, Cehovin A, Coelho C, Diamond M, Emperador D, Faria N, Fay P, Golding J, Harris E, Hasanin N, Jaenisch T, Ko A, Lackritz E, Leighton T, Leo Y, Mehr A, Memish Z, Méndez-Rico J, Moore K, Mura M, Ng L, Osterholm M, Ostrowsky J, Peeling R, Rabe I, Salje H, Staples J, Thomas S, Ulrich A, Vanhomwegen J, Wongsawat J. Zika virus: advancing a priority research agenda for preparedness and response. The Lancet Infectious Diseases 2025, 25: e390-e401. PMID: 40024263, DOI: 10.1016/s1473-3099(24)00794-1.Peer-Reviewed Original Research
2024
Akt is a mediator of artery specification during zebrafish development
Zhou W, Ghersi J, Ristori E, Semanchik N, Prendergast A, Zhang R, Carneiro P, Baldissera G, Sessa W, Nicoli S. Akt is a mediator of artery specification during zebrafish development. Development 2024, 151: dev202727. PMID: 39101673, PMCID: PMC11441982, DOI: 10.1242/dev.202727.Peer-Reviewed Original ResearchArterial specificationEndothelial cellsVascular endothelial growth factor ADorsal aortaEndothelial growth factor ASingle-cell RNA sequencing analysisGrowth factor AArtery endothelial cellsEmbryonic cardiovascular systemConstitutively active Akt1Ligand-independent activationActivation of NotchArteriovenous malformationsCongenital malformationsRNA sequencing analysisVEGF-AProtein kinase BUpstream of NotchSequence analysisCardiovascular developmentSpecific expressionAkt kinaseActive Akt1Zebrafish developmentCardiovascular systemCongenital Malformations of the Eye: A Pictorial Review and Clinico‐Radiological Correlations
Guarnera A, Valente P, Pasquini L, Moltoni G, Randisi F, Carducci C, Carboni A, Lucignani G, Napolitano A, Romanzo A, Longo D, Gandolfo C, Rossi-Espagnet M. Congenital Malformations of the Eye: A Pictorial Review and Clinico‐Radiological Correlations. Journal Of Ophthalmology 2024, 2024: 5993083. PMID: 38322500, PMCID: PMC10846927, DOI: 10.1155/2024/5993083.Peer-Reviewed Original ResearchOcular malformationsCongenital malformationsPictorial reviewWeeks of gestationClinico-radiological correlationOphthalmologic evaluationOphthalmological findingsMalformation severityImaging findingsMalformationsComplex syndromeQuality of lifeImaging protocolVision impairmentHeterogeneous spectrumAbnormalitiesClinical radiologistsEye formationGenetic conditionsEyesCausative eventChild growthComplete absenceImage featuresGestation
2021
Novel murine models for studying Cache Valley virus pathogenesis and in utero transmission
López K, Wilson S, Coutermash-Ott S, Tanelus M, Stone W, Porier D, Auguste D, Muller J, Allicock O, Paulson S, Erasmus J, Auguste A. Novel murine models for studying Cache Valley virus pathogenesis and in utero transmission. Emerging Microbes & Infections 2021, 10: 1649-1659. PMID: 34353229, PMCID: PMC8381923, DOI: 10.1080/22221751.2021.1965497.Peer-Reviewed Original ResearchConceptsCache Valley virusMurine modelLong-term therapeutic studiesTissue tropismImmune-competent miceNovel murine modelHighest seropositivity rateInnate immune responseType I interferonCompetent mosquito vectorsSmall animal modelsWide tissue tropismAge-dependent mannerAge-dependent pathogenesisIFN-αβRUtero transmissionSeropositivity rateSpontaneous abortionLethal infectionDisease outcomeVirus pathogenesisImmune responseTherapeutic studiesCongenital malformationsAnimal models
2020
Loss of Extreme Long-Range Enhancers in Human Neural Crest Drives a Craniofacial Disorder
Long H, Osterwalder M, Welsh I, Hansen K, Davies J, Liu Y, Koska M, Adams A, Aho R, Arora N, Ikeda K, Williams R, Sauka-Spengler T, Porteus M, Mohun T, Dickel D, Swigut T, Hughes J, Higgs D, Visel A, Selleri L, Wysocka J. Loss of Extreme Long-Range Enhancers in Human Neural Crest Drives a Craniofacial Disorder. Cell Stem Cell 2020, 27: 765-783.e14. PMID: 32991838, PMCID: PMC7655526, DOI: 10.1016/j.stem.2020.09.001.Peer-Reviewed Original ResearchConceptsPierre Robin sequenceClusters of enhancersNon-coding mutationsHuman craniofacial disordersRegulate SOX9 expressionLong-range enhancersCell differentiation modelCraniofacial disordersGene desertSOX9 geneMorphological variationGene expressionGenesSynergistic activitySOX9 expressionPhenotypic specificityProgenitor developmentRobin sequenceCongenital malformationsEnhanced activityMouse modelEnhanceropathiesExpressionRestricted windowExpression reductionBurden of emergency pediatric surgical procedures on surgical capacity in Uganda: a new metric for health system performance
Grabski D, Kakembo N, Situma M, Cheung M, Shikanda A, Okello I, Kisa P, Muzira A, Sekabira J, Ozgediz D. Burden of emergency pediatric surgical procedures on surgical capacity in Uganda: a new metric for health system performance. Surgery 2020, 167: 668-674. PMID: 31973913, DOI: 10.1016/j.surg.2019.12.002.Peer-Reviewed Original ResearchMeSH KeywordsBenchmarkingChild, PreschoolDatabases, FactualDigestive System AbnormalitiesEmergency Service, HospitalEmergency TreatmentFemaleHealth ResourcesHernia, InguinalHospital MortalityHumansInfantInfant, NewbornMaleProspective StudiesQuality Indicators, Health CareSurgical Procedures, OperativeUgandaConceptsMiddle-income countriesSurgical capacitySurgical acuityReferral hospitalElective casesInguinal herniaSurgical diseaseSurgical proceduresCongenital malformationsMulago National Referral HospitalMbarara Regional Referral HospitalPediatric surgical admissionsRatio of emergencyHealth metricsNational Referral HospitalRegional Referral HospitalPediatric surgical patientsPediatric surgical proceduresPediatric surgical capacityElective surgical casesTime of repairHealth system performanceSurgery groupSurgical admissionsDefinitive repair
2018
Vector competence of biting midges and mosquitoes for Shuni virus
Möhlmann TWR, Oymans J, Schreur P, Koenraadt CJM, Kortekaas J, Vogels CBF. Vector competence of biting midges and mosquitoes for Shuni virus. PLOS Neglected Tropical Diseases 2018, 12: e0006993. PMID: 30532189, PMCID: PMC6285265, DOI: 10.1371/journal.pntd.0006993.Peer-Reviewed Original ResearchConceptsShuni virusInfection rateInfectious blood mealEvidence of transmissionHigher infection rateFebrile childrenCongenital malformationsNeurological diseasesPotential transmissionPotential involvementHigh pathogenicityZoonotic potentialSimbu serogroupBlood mealVector competenceVirusMosquitoesRiskBroad tropismArthropod vectorsAedes aegyptiAnimalsCulex pipiens pipiensFurther researchFuture epizooticsBlocking Zika virus vertical transmission
Mesci P, Macia A, Moore SM, Shiryaev SA, Pinto A, Huang CT, Tejwani L, Fernandes IR, Suarez NA, Kolar MJ, Montefusco S, Rosenberg SC, Herai RH, Cugola FR, Russo FB, Sheets N, Saghatelian A, Shresta S, Momper JD, Siqueira-Neto JL, Corbett KD, Beltrão-Braga PCB, Terskikh AV, Muotri AR. Blocking Zika virus vertical transmission. Scientific Reports 2018, 8: 1218. PMID: 29352135, PMCID: PMC5775359, DOI: 10.1038/s41598-018-19526-4.Peer-Reviewed Original ResearchNeural progenitor cellsZika virusViral burdenVertical transmissionSOF treatmentZika virus vertical transmissionAnti-ZIKV activityAntiviral immune responseImmunodeficient mouse modelHuman neural cell typesHuman neural progenitor cellsCell deathNucleotide analog inhibitorBody of evidenceChronic infectionNeural cell typesImmune responseMouse modelCongenital malformationsAnimal modelsVaccine developmentInfected individualsSofosbuvirProgenitor cellsTreatment
2017
Ophthalmic Diseases
Stemmer-Rachamimov A, Laver N, McGuone D, Shah B, Weinstein G, Bedi H. Ophthalmic Diseases. 2017, 462-474. DOI: 10.1017/9781139696401.020.Peer-Reviewed Original ResearchSoft tissue diseaseSpinal cord diseaseNervous system diseasesTissue diseaseCord diseaseSystem diseasesRadiologic techniquesBrain tumorsCongenital malformationsDisease processMultidisciplinary teamAccurate diagnosisOphthalmic diseasesDiseaseSkeletal muscleNeuropathologyNeurologistsTumorsMalformations
2016
Prenatal maternal bereavement and mortality in the first decades of life: a nationwide cohort study from Denmark and Sweden
Yu Y, Cnattingius S, Olsen J, Parner E, Vestergaard M, Liew Z, Zhao N, Li J. Prenatal maternal bereavement and mortality in the first decades of life: a nationwide cohort study from Denmark and Sweden. Psychological Medicine 2016, 47: 389-400. PMID: 27762181, DOI: 10.1017/s003329171600266x.Peer-Reviewed Original ResearchConceptsPrenatal maternal bereavementMaternal bereavementMortality riskCohort studyIncreased long-term mortality riskPopulation-based cohort studyLong-term mortality riskNationwide cohort studyLong-term mortalityCause mortality riskExcess mortality riskChildren of mothersFetal programming hypothesisYears of ageYears of lifeEndocrine/Stressful life eventsFetal deathSingleton birthsMedical conditionsProgramming hypothesisHigh riskUnnatural causesCongenital malformationsPrenatal stress
2015
Management of an elderly patient with respiratory failure due to double aortic arch
Ryu C, Puchalski J, Perkins M, Honiden S. Management of an elderly patient with respiratory failure due to double aortic arch. Respiratory Medicine Case Reports 2015, 17: 37-39. PMID: 27222782, PMCID: PMC4821450, DOI: 10.1016/j.rmcr.2015.12.002.Peer-Reviewed Original ResearchDouble aortic archAortic archRespiratory failureVascular ringHistory of dyspneaIntrinsic cardiac diseaseEmbryonic branchial archesObstructive lungElderly patientsSuch patientsAirway stentingRight archElderly womenAdult presentationCardiac diseaseCongenital malformationsCompressive effectCommon typeEarly childhoodPatientsEsophagusTracheaArchBranchial archesFailureAmbient air pollution and congenital heart defects in Lanzhou, China
Jin L, Qiu J, Zhang Y, Qiu W, He X, Wang Y, Sun Q, Li M, Zhao N, Cui H, Liu S, Tang Z, Chen Y, Yue L, Da Z, Xu X, Huang H, Liu Q, Bell ML, Zhang Y. Ambient air pollution and congenital heart defects in Lanzhou, China. Environmental Research Letters 2015, 10: 074005. PMID: 31555342, PMCID: PMC6760856, DOI: 10.1088/1748-9326/10/7/074005.Peer-Reviewed Original ResearchPatent ductus arteriosusEntire pregnancyCongenital heart defectsMaternal exposureCongenital malformationsHeart defectsCongenital heartFolic acid intakeSingleton live birthsTherapeutic drug usePositive associationAmbient air pollutionDuctus arteriosusSeason of conceptionGreat arteriesSignificant positive associationAcid intakeMaternal ageHealth burdenLive birthsCardiac septumTrimesterDrug usePregnancyLogistic regression
2012
Adverse Perinatal Events Associated with ART
Skora D, Frankfurter D. Adverse Perinatal Events Associated with ART. Seminars In Reproductive Medicine 2012, 30: 084-091. PMID: 22549708, DOI: 10.1055/s-0032-1307416.Peer-Reviewed Original ResearchConceptsElective single embryo transferMultiple birthsAdvent of ARTMulti-fetal gestationSingle embryo transferAdvanced maternal ageLow birth weightMultiple gestationsUterine fibroidsImprinting abnormalitiesCongenital malformationsAssisted reproductionBirth weightEmbryo transferMaternal ageThyroid diseaseAdverse outcomesMethylation disordersGestationFertilizer treatmentsBirthPotential adverseAdversityPCOSFibroids
2010
Assisted reproduction in a patient with Klippel-Trenaunay syndrome: management of thrombophilia and consumptive coagulopathy
Martin JR, Pels SG, Paidas M, Seli E. Assisted reproduction in a patient with Klippel-Trenaunay syndrome: management of thrombophilia and consumptive coagulopathy. Journal Of Assisted Reproduction And Genetics 2010, 28: 217-219. PMID: 21188495, PMCID: PMC3082665, DOI: 10.1007/s10815-010-9526-0.Peer-Reviewed Original ResearchConceptsKlippel-Trenaunay syndromeConsumptive coagulopathyChronic consumptive coagulopathyManagement of thrombophiliaDeep venous thrombosisExtensive port-wine stainsPort-wine stainsObstetrical riskThromboembolic eventsVenous thrombosisBone hypertrophyLymphatic malformationsCongenital malformationsSoft tissueAssisted reproductionCoagulopathyWine stainsPregnancyPatientsSyndromeMalformationsGestational surrogatesHypercoagulabilityThrombosisComplicationsUterine Anomalies in Women with Endometriosis
Matalliotakis I, Goumenou A, Matalliotakis M, Arici A. Uterine Anomalies in Women with Endometriosis. Journal Of Endometriosis And Pelvic Pain Disorders 2010, 2: 213-217. DOI: 10.1177/228402651000200406.Peer-Reviewed Original ResearchUterine anomaliesSeptate uterusFamily historyFirst-degree family historyYale University HospitalStage of endometriosisReproductive technology proceduresUnicornuate uterusDidelphic uterusMenstrual characteristicsSevere endometriosisUterine malformationsPremature birthMean ageMedical filesUrinary tractUniversity HospitalSpontaneous abortionMain symptomsFamiliar aggregationEndometriosisCongenital malformationsControl groupCommon malformationsUterus
2004
Congenital Microphthalmos With Orbital Cysts
Chaudhry I, Arat Y, Shamsi F, Boniuk M. Congenital Microphthalmos With Orbital Cysts. Ophthalmic Plastic And Reconstructive Surgery 2004, 20: 452-457. PMID: 15599246, DOI: 10.1097/01.iop.0000143716.12643.98.Peer-Reviewed Original ResearchConceptsOrbital cystCyst excisionCongenital microphthalmosTreated with cyst excisionTreated with enucleationFollow-up intervalMicrophthalmic globesMild microphthalmosCyst aspirationUnilateral casesCongenital malformationsClinical featuresClinical findingsCyst sizeMicrophthalmosComputed tomographyClinical recordsTreatment strategiesCosmetic issuesTreatment approachesExcisionCystsCosmesisPatientsGeneral conditionIndications for Fetal Echocardiography
Small M, Copel J. Indications for Fetal Echocardiography. Pediatric Cardiology 2004, 25: 210-222. PMID: 15360114, DOI: 10.1007/s00246-003-0587-z.Peer-Reviewed Reviews, Practice Guidelines, Standards, and Consensus Statements
2003
Maternal Diabetes: Effects on Embryonic Vascular Development—A Vascular Endothelial Growth Factor-A-mediated Process
Madri JA, Enciso J, Pinter E. Maternal Diabetes: Effects on Embryonic Vascular Development—A Vascular Endothelial Growth Factor-A-mediated Process. Pediatric And Developmental Pathology 2003, 6: 334-341. PMID: 14692647, DOI: 10.1007/s10024-003-5051-9.Peer-Reviewed Original ResearchConceptsEmbryonic lethal phenotypeGrowth factorVascular endothelial growth factorEndothelial growth factorEpithelial-mesenchymal transformationCardiovascular patterningAberrant organogenesisLethal phenotypeVasculogenesis/angiogenesisPhosphorylation stateTargeted mutationsYolk sacMajor congenital malformationsFactor 1Major birth defectsGrowth factor-1OrganogenesisAdhesion moleculesConceptus culturesMaternal diabetesDiabetic miceCardiovascular abnormalitiesVitelline circulationCongenital malformationsBirth defects
2001
Hyperglycemia-Induced Vasculopathy in the Murine Conceptus Is Mediated via Reductions of VEGF-A Expression and VEGF Receptor Activation
Pinter E, Haigh J, Nagy A, Madri J. Hyperglycemia-Induced Vasculopathy in the Murine Conceptus Is Mediated via Reductions of VEGF-A Expression and VEGF Receptor Activation. American Journal Of Pathology 2001, 158: 1199-1206. PMID: 11290536, PMCID: PMC1891927, DOI: 10.1016/s0002-9440(10)64069-2.Peer-Reviewed Original ResearchMeSH KeywordsAnimalsBlood VesselsEndothelial Growth FactorsFetal DiseasesFetusHyperglycemiaLymphokinesMicePhosphorylationReceptor Protein-Tyrosine KinasesReceptors, Growth FactorReceptors, Vascular Endothelial Growth FactorTime FactorsVascular DiseasesVascular Endothelial Growth Factor AVascular Endothelial Growth FactorsConceptsVEGF receptorsMajor congenital malformationsCongenital cardiovascular abnormalitiesVEGF/VEGF receptorVitelline circulationNovel therapeutic approachesLevels of VEGFReduction of VEGFCause of mortalityDiabetic mothersInsult resultsVEGF levelsCardiovascular abnormalitiesHyperglycemic insultGlucose levelsTherapeutic approachesCongenital malformationsResultant abnormalitiesReceptor activationVEGF receptor activationCardiovascular systemTeratogenic agentsVasculopathyDiabetesConceptus
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