2025
Endovascular Embolization versus Observation of Congenital Renal Arteriovenous Malformations: A Retrospective Study
Hufnagle J, Fish A, Schlachter T. Endovascular Embolization versus Observation of Congenital Renal Arteriovenous Malformations: A Retrospective Study. Journal Of Vascular And Interventional Radiology 2025 PMID: 39938714, DOI: 10.1016/j.jvir.2025.02.001.Peer-Reviewed Original ResearchCongenital renal arteriovenous malformationRenal arteriovenous malformationType I AVMArteriovenous malformationsEndovascular embolizationAdverse eventsImaging review of patientsReview of patientsArteriovenous malformation ruptureFollow-up dataYakes classificationTransarterial embolizationEmbolization groupPresenting symptomsPatient demographicsRetrospective studyProcedural imagingImaging reviewEmbolizationPatientsObservation groupMalformationsComplicationsVessel sizeNephrectomy
2024
Müllerian anomalies and endometriosis: associations and phenotypic variations
Bhamidipaty-Pelosi S, Kyei-Barffour I, Volpert M, O’Neill N, Grimshaw A, Eriksson L, Vash-Margita A, Pelosi E. Müllerian anomalies and endometriosis: associations and phenotypic variations. Reproductive Biology And Endocrinology 2024, 22: 157. PMID: 39702195, PMCID: PMC11656925, DOI: 10.1186/s12958-024-01336-1.Peer-Reviewed Original ResearchConceptsMullerian anomaliesObstructive Mullerian anomaliesAdverse pregnancy outcomesDevelopment of endometriosisAbsence of obstructionFemale reproductive tractHeterogeneity of phenotypesPregnancy outcomesRetrograde menstruationSurgical correctionCongenital conditionEndometriosisAnatomical variationsHigh riskReproductive tractCardiovascular systemVariable comorbiditiesClinical researchIncomplete developmentLack of genetic informationMalformationsComorbiditiesObstructionInfertilityMenstruationIn-human clinical experience with direct stick embolization of low-flow vascular malformations using a mammalian target of rapamycin inhibitor
Restrepo-Espinosa V, Lee A, Prozora S, Patel P, Nassiri N. In-human clinical experience with direct stick embolization of low-flow vascular malformations using a mammalian target of rapamycin inhibitor. Journal Of Vascular Surgery Venous And Lymphatic Disorders 2024, 13: 101997. PMID: 39515753, DOI: 10.1016/j.jvsv.2024.101997.Peer-Reviewed Original ResearchLow-flow vascular malformationsMTOR inhibitorsClinical successVascular malformationsSide effectsLocalized intravascular coagulopathyOral aphthous ulcersKlippel-Trenaunay syndromeLymphatic malformationsVenous malformationsRe-interventionDelayed complicationsNon-syndromicTechnical successAphthous ulcersIntravascular coagulopathyD-dimerEndovascular treatmentSystemic exposureAdjunctive therapySystemic toxicityFrequent bloodMalformationsSelf-limitingMTOR inhibitionCharacterizing Cochlear Implant Trans-Impedance Matrix Heatmaps in Patients With Abnormal Anatomy
Cottrell J, Winchester A, Friedmann D, Jethanamest D, Spitzer E, Svirsky M, Waltzman S, Shapiro W, McMenomey S, Roland J. Characterizing Cochlear Implant Trans-Impedance Matrix Heatmaps in Patients With Abnormal Anatomy. Otology & Neurotology 2024, 45: e630-e638. PMID: 39190800, DOI: 10.1097/mao.0000000000004304.Peer-Reviewed Original ResearchConceptsLabyrinthine abnormalitiesTransimpedance matrixBasal turnIntraoperative X-rayGroup of patientsNormal X-raysInterscalar septumRetrospective reviewPostoperative imagingCochlear implantationAbnormal anatomyPatientsAbnormalitiesMalformationsRiskCoil electrodeMalpositionSurgeonsCochleaSeptumVariantsImplantationManagement and Outcomes of Pediatric Lymphatic Malformations: A Systematic Review From the APSA Outcomes and Evidence-Based Practice Committee
Huerta C, Beres A, Englum B, Gonzalez K, Levene T, Wakeman D, Yousef Y, Gulack B, Chang H, Christison-Lagay E, Ham P, Mansfield S, Kulaylat A, Lucas D, Rentea R, Pennell C, Sulkowski J, Russell K, Ricca R, Kelley-Quon L, Tashiro J, Rialon K, Committee T. Management and Outcomes of Pediatric Lymphatic Malformations: A Systematic Review From the APSA Outcomes and Evidence-Based Practice Committee. Journal Of Pediatric Surgery 2024, 59: 161589. PMID: 38914511, DOI: 10.1016/j.jpedsurg.2024.05.019.Peer-Reviewed Original ResearchSystematic reviewLymphatic malformationsConsensus statement of recommendationsPreferred Reporting ItemsEvidence-based recommendationsMedical therapyStatements of recommendationsLevel of Evidence 4Reporting ItemsModerate qualityPediatric lymphatic malformationsMulti-modality treatmentType of LMExtraction of dataConsensus statementOptimal individualized treatmentMacrocystic lesionsComplete responsePercutaneous treatmentMultidisciplinary approachSurgeryMalformationsOutcomesPatientsIndividualized treatmentNon-dominant, Lesional Posterior Quadrant Epilepsy
Herlopian A. Non-dominant, Lesional Posterior Quadrant Epilepsy. 2024, 633-652. DOI: 10.1007/978-3-031-23828-4_25.Peer-Reviewed Original ResearchArterio-venous malformationsIntracranial monitoringImpact of topiramatePosterior quadrantic epilepsyTreat pharmacoresistant epilepsySurgical outcomesTransient encephalopathyElectrographic seizuresSurgical interventionOutcome predictorsClinical significancePharmacoresistant epilepsyEpileptogenesis mechanismsEpilepsy patientsPatientsWada testAuditory hallucinationsLanguage reorganizationMalformationsEpilepsyCognitive functionOutcomesAuditory illusionTopiramateBrain AVM compactness score in children with hereditary hemorrhagic telangiectasia
Beslow L, Vossough A, Kim H, Nelson J, Lawton M, Pollak J, Lin D, Ratjen F, Hammill A, Hetts S, Gossage J, Whitehead K, Faughnan M, Krings T. Brain AVM compactness score in children with hereditary hemorrhagic telangiectasia. Child's Nervous System 2024, 40: 2101-2108. PMID: 38517485, PMCID: PMC11179972, DOI: 10.1007/s00381-024-06366-z.Peer-Reviewed Original ResearchBrain arteriovenous malformationsSporadic brain arteriovenous malformationsHereditary hemorrhagic telangiectasiaHemorrhagic riskHemorrhagic telangiectasiaBrain arteriovenous malformation treatmentBrain vascular malformationsCompact nidusSurgical resectionArteriovenous malformationsIntracranial hemorrhageVascular malformationsRecurrence riskResultsForty-eightInterventional neuroradiologistsAngiographic measurementsHemorrhageNidusAngiogramMalformationsRecurrenceTelangiectasiaRiskChildrenBrainA metabolic signature for NADSYN1-dependent congenital NAD deficiency disorder
Szot J, Cuny H, Martin E, Sheng D, Iyer K, Portelli S, Nguyen V, Gereis J, Alankarage D, Chitayat D, Chong K, Wentzensen I, Vincent-Delormé C, Lermine A, Burkitt-Wright E, Ji W, Jeffries L, Pais L, Tan T, Pitt J, Wise C, Wright H, Andrews I, Pruniski B, Grebe T, Corsten-Janssen N, Bouman K, Poulton C, Prakash S, Keren B, Brown N, Hunter M, Heath O, Lakhani S, McDermott J, Ascher D, Chapman G, Bozon K, Dunwoodie S. A metabolic signature for NADSYN1-dependent congenital NAD deficiency disorder. Journal Of Clinical Investigation 2024, 134: e174824. PMID: 38357931, PMCID: PMC10866660, DOI: 10.1172/jci174824.Peer-Reviewed Original ResearchConceptsCongenital NAD deficiency disorderNicotinamide adenine dinucleotideBiallelic loss-of-function variantsLoss-of-function variantsPrecursor supplementationNAD precursor supplementationStructures modelled in silicoNonredundant enzymesMetabolic signaturesNAD metabolomeNicotinamide adenine dinucleotide levelsDeficiency disordersPrevent adverse pregnancy outcomesSynthesis pathwayAdverse pregnancy outcomesModel in silicoNAD precursorsMetabolic blockEmbryonic developmentImproving clinical diagnosticsAdenine dinucleotideAbsence of malformationsPregnancy outcomesCongenital malformationsMalformationsCongenital 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 featuresGestationTotal spine MRI for the preoperative evaluation of adolescent idiopathic scoliosis: Part 2 – spinal cord tumors, dysraphisms, diastematomyelia, and vertebral anomalies
Lee H, Janjua F, Ragab A, Moran J, Haims A, Rubio D, Tuason D, Porrino J. Total spine MRI for the preoperative evaluation of adolescent idiopathic scoliosis: Part 2 – spinal cord tumors, dysraphisms, diastematomyelia, and vertebral anomalies. Current Problems In Diagnostic Radiology 2024, 53: 415-421. PMID: 38262798, DOI: 10.1067/j.cpradiol.2024.01.017.Peer-Reviewed Original ResearchTotal spine MRISpinal cord tumorsAdolescent idiopathic scoliosisCord tumorsSpine MRIIdiopathic scoliosisEvaluation of adolescent idiopathic scoliosisVertebral anomaliesNeural axis abnormalitiesArnold-Chiari malformationTime of diagnosisTethered cordAxis abnormalitiesChiari malformationPreoperative evaluationScreening examinationDiastematomyeliaDysraphismTumorScoliosisAbnormalitiesMRIMalformationsSyringomyeliaCordTotal spine MRI for the preoperative evaluation of adolescent idiopathic scoliosis: part 1
Lee H, Janjua F, Ragab A, Moran J, Haims A, Rubio D, Tuason D, Porrino J. Total spine MRI for the preoperative evaluation of adolescent idiopathic scoliosis: part 1. Current Problems In Diagnostic Radiology 2024, 53: 405-414. PMID: 38246795, DOI: 10.1067/j.cpradiol.2024.01.016.Peer-Reviewed Original ResearchTotal spine MRIAdolescent idiopathic scoliosisSpine MRIIdiopathic scoliosisEvaluation of adolescent idiopathic scoliosisNeural axis abnormalitiesSpinal cord tumorsTime of diagnosisArnold-Chiari malformationCord tumorsTethered cordAxis abnormalitiesChiari malformationPreoperative evaluationScreening examinationVertebral anomaliesScoliosisAbnormalitiesMRIDiastematomyeliaDysraphismSyringomyeliaMalformationsTumor
2023
Mutation of key signaling regulators of cerebrovascular development in vein of Galen malformations
Zhao S, Mekbib K, van der Ent M, Allington G, Prendergast A, Chau J, Smith H, Shohfi J, Ocken J, Duran D, Furey C, Hao L, Duy P, Reeves B, Zhang J, Nelson-Williams C, Chen D, Li B, Nottoli T, Bai S, Rolle M, Zeng X, Dong W, Fu P, Wang Y, Mane S, Piwowarczyk P, Fehnel K, See A, Iskandar B, Aagaard-Kienitz B, Moyer Q, Dennis E, Kiziltug E, Kundishora A, DeSpenza T, Greenberg A, Kidanemariam S, Hale A, Johnston J, Jackson E, Storm P, Lang S, Butler W, Carter B, Chapman P, Stapleton C, Patel A, Rodesch G, Smajda S, Berenstein A, Barak T, Erson-Omay E, Zhao H, Moreno-De-Luca A, Proctor M, Smith E, Orbach D, Alper S, Nicoli S, Boggon T, Lifton R, Gunel M, King P, Jin S, Kahle K. Mutation of key signaling regulators of cerebrovascular development in vein of Galen malformations. Nature Communications 2023, 14: 7452. PMID: 37978175, PMCID: PMC10656524, DOI: 10.1038/s41467-023-43062-z.Peer-Reviewed Original ResearchConceptsEphrin receptor B4Galen malformationBrain arteriovenous malformationsP120 RasGAPTransmitted variantsArteriovenous malformationsDe novo variantsSingle-cell transcriptomesSignificant burdenCerebrovascular developmentIntegrative genomic analysisEndothelial cellsVenous networkAdditional probandsMalformationsNovo variantsMissense variantsGenomic analysisDevelopmental angiogenesisVascular developmentDamaging variantsVeinRasGAPIntegrated analysisPatients4E-BP1 expression in embryonic postmitotic neurons mitigates mTORC1-induced cortical malformations and behavioral seizure severity but does not prevent epilepsy in mice
Nguyen L, Sharma M, Bordey A. 4E-BP1 expression in embryonic postmitotic neurons mitigates mTORC1-induced cortical malformations and behavioral seizure severity but does not prevent epilepsy in mice. Frontiers In Neuroscience 2023, 17: 1257056. PMID: 37680968, PMCID: PMC10480503, DOI: 10.3389/fnins.2023.1257056.Peer-Reviewed Original ResearchBehavioral seizure severityCortical malformationsSeizure frequencySeizure severityRadial gliaLayer 2/3 pyramidal neuronsCortical layer 2/3 pyramidal neuronsFocal cortical malformationsBehavioral seizuresNeuronal hypertrophyIntractable seizuresPyramidal neuronsSeizure activityRapamycin complex 1 (mTORC1) pathwayEctopic neuronsSeizure preventionMigratory neuronsWhite matterSeizuresNeuronsMalformationsMechanistic targetRecent evidenceSeverityEpilepsyDirect stick embolization of a rectal venous malformation via transanal minimally invasive surgery
Bitar R, Ayoade O, Yekula A, Reddy V, Pantel H, Nassiri N. Direct stick embolization of a rectal venous malformation via transanal minimally invasive surgery. Journal Of Vascular Surgery Cases And Innovative Techniques 2023, 9: 101124. PMID: 37427040, PMCID: PMC10323409, DOI: 10.1016/j.jvscit.2023.101124.Peer-Reviewed Original ResearchRectal venous malformationsVenous malformationsInvasive surgeryElevated D-dimer levelsD-dimer levelsRare clinical entityLocalized intravascular coagulopathyComputed tomography urographyMagnetic resonance imagingPostembolization syndromeIntravascular coagulopathyPostoperative recoveryRectal massInterventional managementClinical entityTomography urographyVascular anomaliesRare caseResonance imagingSurgeryTAMISTargeted strategiesComplicationsEmbolizationMalformationsLymphatic Malformations
Goss J, Zamakhshary M, Langer J, Christison-Lagay E. Lymphatic Malformations. 2023, 609-623. DOI: 10.1007/978-3-030-81488-5_47.ChaptersLymphatic malformationsCongenital vascular lesionsFoundation of careEmbryologic errorsSurgical therapySystemic therapyTreatment consensusInfiltrative patternVascular lesionsInvasive lesionsNovel agentsComplex lesionsPsychosocial distressMultidisciplinary teamIndividual lesionsRisk profileLesionsVital structuresLocalized massesTherapyMalformationsLarge groupMorbiditySclerotherapyLymphorrhea
2022
Hospital Volume and Postoperative Outcomes after Elective Lung Resection in Infants with Congenital Lung Malformations
Engwall-Gill A, Shah P, Weller J, Sferra S, Penikis A, Rhee D, Solomon, D, Kunisaki S. Hospital Volume and Postoperative Outcomes after Elective Lung Resection in Infants with Congenital Lung Malformations. Journal Of The American College Of Surgeons 2022, 235: s178-s178. DOI: 10.1097/01.xcs.0000894360.92847.7e.Peer-Reviewed Original ResearchUnrepaired Maternal Vein of Galen Malformation in Pregnancy: A Case Report
Ackerman-Banks C, Fardelmann K, Lam D, Simmons M, Elder R, Matouk C, Campbell K. Unrepaired Maternal Vein of Galen Malformation in Pregnancy: A Case Report. A&A Practice 2022, 16: e01634. PMID: 36599040, DOI: 10.1213/xaa.0000000000001634.Peer-Reviewed Case Reports and Technical NotesConceptsGalen malformationMaternal veinPregnant patientsCesarean deliveryNeuraxial analgesiaTerm neonatesAnesthetic managementHeart failureCardiac failureVentricular dilationIntracranial hemorrhageCase reportCare centerDevelopmental delayPatientsPregnancyLesionsMalformationsVeinUnrepaired lesionsDeliveryAnalgesiaEmbolizationHemorrhageNeonatesThe changing landscape in epilepsy imaging: Unmasking subtle and unique entities
Adin ME, Department of Radiology and Biomedical Imaging Y, Durand D, Zucconi W, Huttner A, Spencer D, Bronen R, Department of Radiology Abbott Northwestern Hospital M, Department of Pathology Y, Department of Neurosurgery Y. The changing landscape in epilepsy imaging: Unmasking subtle and unique entities. Diagnostic And Interventional Radiology 2022, 28: 503-515. PMID: 35997478, PMCID: PMC9682800, DOI: 10.5152/dir.2022.21339.Peer-Reviewed Original ResearchConceptsHippocampal sclerosisCortical developmentLocalization-related epilepsyTemporal lobe encephaloceleFocal cortical dysplasiaFocal cortical dysplasia IIbField of epilepsyEpileptogenic abnormalitiesAutoimmune encephalitisRasmussen's encephalitisCommon etiologyCortical dysplasiaEpilepsy surgeryEpileptogenic substrateTuberous sclerosisEpilepsy imagingHippocampal malformationsMTOR pathwayEncephalitisSclerosisMR imagingMalformationsUnique entitySurgeryEpilepsyEndothelial Cell-Pericyte Interactions in the Pathogenesis of Cerebral Cavernous Malformations (CCMs).
Min W, Zhou JH. Endothelial Cell-Pericyte Interactions in the Pathogenesis of Cerebral Cavernous Malformations (CCMs). Cold Spring Harbor Perspectives In Medicine 2022, 13: a041188. PMID: 35667709, PMCID: PMC9760308, DOI: 10.1101/cshperspect.a041188.Peer-Reviewed Original ResearchConceptsCerebral cavernous malformationsCCM lesionsEndothelial cellsCavernous malformationsEndothelial cell-pericyte interactionsEC-specific deletionBrain vasculatureMice resultsLesion formationParenchymal cellsCCM formationLesionsPericytesPrimary defectFunction mutationsMalformationsUnexpected findingCell typesUbiquitous expressionCellsPatientsInfluence of Nonsyndromic Bicoronal Synostosis and Syndromic Influences on Orbit and Periorbital Malformation
Lu X, Forte AJ, Dinis J, Junn A, Alperovich M, Alonso N, Persing JA. Influence of Nonsyndromic Bicoronal Synostosis and Syndromic Influences on Orbit and Periorbital Malformation. Plastic & Reconstructive Surgery 2022, 149: 930e-942e. PMID: 35286288, DOI: 10.1097/prs.0000000000009051.Peer-Reviewed Original ResearchConceptsApert syndromeCrouzon syndromeBicoronal synostosisNonsyndromic bicoronal synostosisNonsyndromic casesPreoperative computed tomography scansSpine positionCLINICAL QUESTION/LEVELComputed tomography scanOrbital cavity volumeLateral orbital wallTomography scanApert patientsMaxillary retrusionPremature suture fusionMaxillary hypoplasiaSyndromePatientsCrouzon patientsOrbital wallSyndromic craniosynostosisAnteroposterior lengthVolumetric analysisSynostosisMalformations
This site is protected by hCaptcha and its Privacy Policy and Terms of Service apply