2025
Updates in Pregnancy in Individuals with Obesity and After Bariatric Surgery
Espinal M, Hairston J, Kominiarek M. Updates in Pregnancy in Individuals with Obesity and After Bariatric Surgery. Obstetrics And Gynecology Clinics Of North America 2025, 52: 413-430. PMID: 40769654, DOI: 10.1016/j.ogc.2025.05.001.Peer-Reviewed Original ResearchConceptsGestational diabetesBariatric surgeryRisk of gestational diabetesAnti-obesity medicationsEarly pregnancy lossCesarean deliveryPostpartum hemorrhagePreterm birthDelivery complicationsSurgical complicationsSurgical infectionsCongenital anomaliesPregnancy lossPregnancy planningPregnancyNutritional deficienciesSurgeryLong-term effectsObesityReproductive healthComplicationsDiabetesAnti-obesitySafety concernsRiskAtypical presentation of occult congenital diaphragmatic hernia as intermittent obstructive symptoms: A case report
Haynes C, Thaxton C, Shaughnessy M, Stitelman D. Atypical presentation of occult congenital diaphragmatic hernia as intermittent obstructive symptoms: A case report. Journal Of Pediatric Surgery Case Reports 2025, 117: 103018. DOI: 10.1016/j.epsc.2025.103018.Peer-Reviewed Original ResearchCongenital diaphragmatic herniaLate-onset congenital diaphragmatic herniaDiaphragmatic herniaObstructive symptomsAbdominal painDifferential diagnosis of childrenIntermittent obstructive symptomsNormal stooling patternObstructive bowel symptomsRightward mediastinal shiftPost-operative courseFive-month historyNormal bowel movementsAcute respiratory distressMonths of lifeAcute intestinal obstructionDiagnosis of childrenPrenatal suspicionBands of scar tissueAtypical presentationCongenital anomaliesStool patternMediastinal shiftBowel obstructionFibrotic bandsTrio exome sequencing identifies de novo variants in novel candidate genes in 19.62% of CAKUT families
Merz L, Kolvenbach C, Wang C, Mertens N, Seltzsam S, Mansour B, Zheng B, Schneider S, Schierbaum L, Hölzel S, Salmanullah D, Pantel D, Kalkar G, Connaughton D, Mann N, Wu C, Kause F, Nakayama M, Dai R, Schneider R, Buerger F, Nicolas-Frank C, Yousef K, Lemberg K, Saida K, Yu S, Elmubarak I, Franken G, Lomjansook K, Braun A, Bauer S, Rodig N, Somers M, Traum A, Stein D, Daga A, Baum M, Daouk G, Awad H, Eid L, El Desoky S, Shalaby M, Kari J, Ooda S, Fathy H, Soliman N, Nabhan M, Abdelrahman S, Hilger A, Mane S, Ferguson M, Tasic V, Shril S, Hildebrandt F. Trio exome sequencing identifies de novo variants in novel candidate genes in 19.62% of CAKUT families. Genetics In Medicine 2025, 27: 101432. PMID: 40223730, DOI: 10.1016/j.gim.2025.101432.Peer-Reviewed Original ResearchCandidate genesExome sequencingDisease genesPotential novel candidate genesCandidate disease genesTrio-based exome sequencingDe novo variantsTrio exome sequencingDisease etiologyPathogenesis of CAKUTPotential novel causeTrio familiesTrio analysisMonogenic genesGenesNovel causeCHD1LSOX13VariantsTriosSequenceCongenital anomaliesHeterogeneous malformationUrinary tractCAKUTEstablishing a Structured Hypospadias Biobank Cohort for Integrated Research: Methodology, Comprehensive Database Integration, and Phenotyping
Abbas T, Al-Shafai K, Jamil A, Mancha M, Azzah A, Arar S, Kumar S, Al Massih A, Mackeh R, Tomei S, Saraiva L. Establishing a Structured Hypospadias Biobank Cohort for Integrated Research: Methodology, Comprehensive Database Integration, and Phenotyping. Diagnostics 2025, 15: 561. PMID: 40075808, PMCID: PMC11898921, DOI: 10.3390/diagnostics15050561.Peer-Reviewed Original ResearchHypospadias severitySurgical outcomesEvidence-based surgical techniquesImprove long-term resultsPatient outcomesSeverity of hypospadiasTranslational researchGroup of patientsLong-term resultsFollow-up dataDiverse group of patientsLongitudinal follow-up dataPersonalized care strategiesPostoperative complicationsClinical presentationCongenital anomaliesImprove patient outcomesSurgical dataSurgical interventionBiobank cohortSurgical techniquePhenotypic spectrumClinical dataCongenital conditionHypospadiasEmbryonic and fetal development of the human knee with an emphasis on the posterior cruciate ligament: a literature review
Levitt S, Park N, Cheng R, Ayhan E, Zazulak B, Joo P, Islam W, Jokl P, Katz L, Medvecky M. Embryonic and fetal development of the human knee with an emphasis on the posterior cruciate ligament: a literature review. Annals Of Joint 2025, 10: 10-10. PMID: 39981425, PMCID: PMC11836755, DOI: 10.21037/aoj-24-36.Peer-Reviewed Original ResearchCongenital anomaliesFetal developmentPosterior cruciate ligamentClinical conditionsMeniscofemoral ligamentCruciate ligamentFetal formationFetal appearanceStaging systemHuman embryosMesenchymal tissueWeeks of developmentDevelopment of articulationEmbryological developmentIntraarticular structuresAdult kneesEmbryo sectionsMorphological criteriaLigamentKnee
2024
Prediction of neonatal survival among Pacific Islander preterm births in the US
Wu B, Taylor S, Shabanova V, Hawley N. Prediction of neonatal survival among Pacific Islander preterm births in the US. PLOS ONE 2024, 19: e0316048. PMID: 39739767, PMCID: PMC11687717, DOI: 10.1371/journal.pone.0316048.Peer-Reviewed Original ResearchConceptsGestational ageNeonatal sexBirth weightNeonatal mortalityNeonatal survivalPreterm birthBorn large-for-gestational ageLarge-for-gestational ageObesity-related risk factorsPrediction of neonatal survivalPre-pregnancy obesityGroup of neonatesMortality rateNeonatal mortality rateUnited States National Center for Health StatisticsDeath data filesPacific Islander mothersPredicted survival ratesGestational weeksPre-pregnancyNeonatal deathCongenital anomaliesGestationSurvival rateRisk factorsClinical spectrum of Transthyretin amyloidogenic mutations among diverse population origins
De Lillo A, Pathak G, Low A, De Angelis F, Abou Alaiwi S, Miller E, Fuciarelli M, Polimanti R. Clinical spectrum of Transthyretin amyloidogenic mutations among diverse population origins. Human Genomics 2024, 18: 31. PMID: 38523305, PMCID: PMC10962184, DOI: 10.1186/s40246-024-00596-7.Peer-Reviewed Original ResearchConceptsCardiac congenital anomaliesAmyloidogenic mutationsCross-ancestry meta-analysisCongenital anomaliesComplex genotype-phenotype correlationsVal122Ile mutationGenotype-phenotype correlationPeripheral nerve disordersHereditary form of amyloidosisAncestry-specificCross-ancestryEuropean-descent individualsEast AsiansTTR-related amyloidosisIndividuals of African descentPopulation originClinical presentationAtrioventricular blockClinical spectrumDelayed DiagnosisTTR mutationsAfrican descentNerve disordersTransthyretin mutationMutationsRing Chromosome 21
Zhang H, Chai H. Ring Chromosome 21. 2024, 287-300. DOI: 10.1007/978-3-031-47530-6_25.Peer-Reviewed Original ResearchChromosomal microarray analysisCongenital anomaliesAcute leukemiaFluorescence in situ hybridizationTreatment of congenital anomaliesIncreased risk of miscarriageMultiple congenital anomaliesRisk of miscarriageBone marrow cellsEvaluation of infertilityAdult male patientsAdult female patientsRing chromosome 21Chromosome 21Spectrum of phenotypesGenomic imbalancesCraniofacial dysmorphismFemale patientsMale patientsMarrow cellsChromosome analysisClinical managementIncreased riskDevelopmental delayPatientsPre‐pregnancy BMI, rate of gestational weight gain, and preterm birth among US Pacific Islander individuals
Wu B, Shabanova V, Taylor S, Hawley N. Pre‐pregnancy BMI, rate of gestational weight gain, and preterm birth among US Pacific Islander individuals. Obesity 2024, 32: 798-809. PMID: 38304993, PMCID: PMC10965383, DOI: 10.1002/oby.23979.Peer-Reviewed Original ResearchRate of gestational weight gainGestational weight gainPacific Islander individualsPre-pregnancy BMIIncreased risk of PTBRisk of preterm birthPreterm birthPre-pregnancyIslander individualsObesity classNational Center for Health StatisticsCenter for Health StatisticsIncreased riskObesity class ICox proportional hazards modelsPacific Islander mothersHealthy weightWeight gainProportional hazards modelHealth StatisticsSingleton infantsCongenital anomaliesBMIClass IHazards model
2023
Diabetes in Pregnancy, Neonatal Morbidities, and Early Growth in Moderate or Late Preterm Infants.
Buck C, Shabanova V, Clark R, Taylor S. Diabetes in Pregnancy, Neonatal Morbidities, and Early Growth in Moderate or Late Preterm Infants. 2023, 152 PMID: 37969002, DOI: 10.1542/peds.2023-061285.Peer-Reviewed Original ResearchConceptsLate preterm infantsPreterm infantsGestational ageNeonatal morbidityBirth weightDay 14Pediatrix Clinical Data WarehouseNeonatal intensive care unitCommon neonatal morbiditiesShort-term morbidityIntensive care unitFirst postnatal dayPercent weight changeFirst postnatal weekClinical data warehouseDM groupRespiratory supportTerm morbidityCare unitDiabetes exposureAdjusted differenceCongenital anomaliesPostnatal dayHealth characteristicsPostnatal weekSystematic review of inferior vena cava atresia
Saab K, Brahmandam A, Brackett A, Desai M, Dardik A, Guzman R, Chaar C. Systematic review of inferior vena cava atresia. Journal Of Vascular Surgery Venous And Lymphatic Disorders 2023, 11: 1253-1264. PMID: 37453547, DOI: 10.1016/j.jvsv.2023.07.002.Peer-Reviewed Reviews, Practice Guidelines, Standards, and Consensus StatementsDeep vein thrombosisIVC atresiaCongenital anomaliesLeg painMost patientsDevelopment of DVTSystematic reviewAcceptable mid-term resultsInferior vena cava atresiaEndovascular surgical interventionsMortality of patientsOutcomes of patientsMid-term resultsRare venous anomalyTerms of patencyVein thrombosisSymptomatic reliefVenous anomaliesIliac veinInferior venaSurgical interventionMean ageTreatment groupsPatientsAtresiaHeart disease complicating pregnancy as a leading cause of maternal deaths in LMIC settings: the Sri Lankan experience
Hettiarachchi A, Jayaratne K, De Silva C, Senanayake H, Lokunarangoda N, Agampodi S. Heart disease complicating pregnancy as a leading cause of maternal deaths in LMIC settings: the Sri Lankan experience. The Lancet Regional Health - Southeast Asia 2023, 15: 100223. PMID: 37614353, PMCID: PMC10442957, DOI: 10.1016/j.lansea.2023.100223.Peer-Reviewed Original ResearchMaternal deathsHeart diseaseComplicating pregnancyCause-specific maternal mortality ratioHeart disease complicating pregnancyPregnancy-related deathsRheumatic heart diseaseMaternal mortality ratioSurveillance-response systemMiddle-income countriesMaternal mortalityICD-11 classificationLeading causeMortality ratioSpecialized careCardiovascular diseaseCongenital anomaliesLive birthsPregnancyLMIC settingsFemale deathsUnderlying causeDiseaseDeathIndirect causes13. Assessing Clinical Care Experiences of Patients with Congenital Uterine Anomalies: a Pilot Study
Saleh F, Vash-Margita A, Margetts M, Pelosi E. 13. Assessing Clinical Care Experiences of Patients with Congenital Uterine Anomalies: a Pilot Study. Journal Of Pediatric And Adolescent Gynecology 2023, 36: 179. DOI: 10.1016/j.jpag.2023.01.101.Peer-Reviewed Original ResearchCongenital uterine anomaliesTertiary healthcare systemUterine anomaliesPatient experienceAdverse pregnancy outcomesInitial presenting symptomMajority of patientsTertiary care settingClinical care experiencesHealthcare systemKuster-Hauser syndromePatient-centered outcomes researchAge 13 yearsDidelphys uterusGynecologic outcomesPoor obstetricPresenting symptomPregnancy outcomesMayer-RokitanskyPregnancy lossCongenital anomaliesHigh prevalenceCare settingsClinical careAverage ageOvarian absence: a systematic literature review and case series report
Chen H, Grimshaw A, Taylor-Giorlando M, Vijayakumar P, Li D, Margetts M, Pelosi E, Vash-Margita A. Ovarian absence: a systematic literature review and case series report. Journal Of Ovarian Research 2023, 16: 13. PMID: 36642704, PMCID: PMC9841619, DOI: 10.1186/s13048-022-01090-1.Peer-Reviewed Original ResearchConceptsOvarian absenceUterine abnormalitiesVascular accidentRenal abnormalitiesInfertility/subfertilityCase series reportWeb of SciencePelvic painDiagnostic laparoscopyClinical presentationVascular etiologyOvid EmbaseCochrane LibraryFrequent presentationUncommon conditionSeries reportCongenital anomaliesOvid MEDLINEOvarian abnormalitiesFertility considerationsGenitourinary anatomyExclusion criteriaEmbryological defectUnpublished casesSystematic review
2022
Septo-optic dysplasia in an infant
Aliu E, Musa J, Parisapogu A, Kola E, Hyseni F, Kola I, Blandón A, Roy P, Prathima K, Banavath C, Kumbha P, Tappa S, Saini J, Pichuthirumalai S, Ahmetgjekaj I. Septo-optic dysplasia in an infant. Radiology Case Reports 2022, 17: 3147-3150. PMID: 35801123, PMCID: PMC9253040, DOI: 10.1016/j.radcr.2022.06.002.Peer-Reviewed Original ResearchSepto-optic dysplasiaSOD patientsAcute respiratory distress syndromeRare congenital anomalyEpisode of acute respiratory distress syndromeRespiratory distress syndromeHypothalamic-pituitary axisMidline brain structuresFollow-up approachClinical presentationCongenital anomaliesDistress syndromeOptic nerveEndocrine abnormalitiesLive birthsManagement modalitiesCongenital disorderPatientsHypoplasiaMultidisciplinary approachDysplasiaBrain structuresDiseasePresentationAgenesisBaseline characteristics of participants enrolled in the KoreaN cohort study for Outcomes in patients With Pediatric Chronic Kidney Disease (KNOW-Ped CKD)
Park P, Kang H, Park E, Ahn Y, Choi H, Han K, Kim S, Cho H, Lee K, Shin J, Cho M, Lee J, Park Y, Kim J, Ha I. Baseline characteristics of participants enrolled in the KoreaN cohort study for Outcomes in patients With Pediatric Chronic Kidney Disease (KNOW-Ped CKD). Pediatric Nephrology 2022, 37: 3177-3187. PMID: 35277754, DOI: 10.1007/s00467-021-05278-3.Peer-Reviewed Original ResearchConceptsPediatric chronic kidney diseaseKorean Cohort StudyChronic kidney diseaseKidney diseaseBaseline characteristicsCohort studyGraphical abstractA higher resolution versionResultsThe median agePediatric nephrology centersBaseline characteristics of participantsEtiology of CKDKNOW-CKDMedian ageCongenital anomaliesUrinary tractCKD stageNephrology centersClinical dataPediatric CKDCross-sectional analysisCKDUrine samplesHigher resolution versionPatientsDiseaseA Quality Improvement Bundle to Improve Outcomes in Extremely Preterm Infants in the First Week.
Travers C, Gentle S, Freeman A, Nichols K, Shukla V, Purvis D, Dolma K, Winter L, Ambalavanan N, Carlo W, Lal C. A Quality Improvement Bundle to Improve Outcomes in Extremely Preterm Infants in the First Week. 2022, 149 PMID: 35088085, PMCID: PMC9677934, DOI: 10.1542/peds.2020-037341.Peer-Reviewed Original ResearchConceptsSevere intracranial hemorrhageExtremely preterm infantsPreterm infantsIntracranial hemorrhageRates of acute kidney injuryMedian birth weightSpontaneous intestinal perforationDelayed cord clampingAcute kidney injuryQuality improvement initiativesBaseline rateGestational ageWeeks gestationCord clampingIndomethacin prophylaxisCongenital anomaliesIntestinal perforationBirth weightKidney injuryPrimary outcomeQuality improvement bundleInfantsFirst-weekBirthWeeks
2021
Imaging Review of Obstetric Sequelae of Maternal Diabetes Mellitus
Aboughalia H, Pathak P, Basavalingu D, Chapman T, Revzin MV, Sienas LE, Deutsch GH, Katz DS, Moshiri M. Imaging Review of Obstetric Sequelae of Maternal Diabetes Mellitus. RadioGraphics 2021, 42: 302-319. PMID: 34855544, DOI: 10.1148/rg.210164.Peer-Reviewed Original ResearchConceptsFetal lung maturityMaternal complicationsPerinatal morbidityCesarean deliveryCongenital anomaliesLung maturityTwo-vessel umbilical cordBrachial plexus palsyFetal growth restrictionMaternal-fetal medicineTime of deliveryAssociated preeclampsiaFetal complicationsPlacental thickeningMacrosomic fetusesMaternal outcomesPlacental abruptionPreterm laborDiabetic pregnanciesFetal macrosomiaHypertensive diseasePlexus palsyDiabetes mellitusHumeral fracturesMaternal diabetesMultimodality Imaging Evaluation of Fetal Spine Anomalies with Postnatal Correlation.
Aboughalia H, Noda S, Chapman T, Revzin MV, Deutsch GH, Browd SR, Katz DS, Moshiri M. Multimodality Imaging Evaluation of Fetal Spine Anomalies with Postnatal Correlation. RadioGraphics 2021, 41: 2176-2192. PMID: 34723699, DOI: 10.1148/rg.2021210066.Peer-Reviewed Original ResearchConceptsSpinal dysraphismSacrococcygeal teratomaCongenital anomaliesInitial screening modalityRisk of infectionAccurate early diagnosisVertebral body anomaliesUtero closureFetal centerSubstantial morbidityFetal interventionPelvic massFunctional outcomeFusion anomaliesPerinatal periodScreening modalitySubcutaneous massEarly diagnosisOnline supplemental materialSpinal abnormalitiesFetal MRIDysraphismPatient's lifeFetal spineFetal imagingDiffusion 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
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