2022
Improving Infant Hydrocephalus Outcomes in Uganda: A Longitudinal Prospective Study Protocol for Predicting Developmental Outcomes and Identifying Patients at Risk for Early Treatment Failure after ETV/CPC
Vadset T, Rajaram A, Hsiao C, Katungi M, Magombe J, Seruwu M, Nsubuga B, Vyas R, Tatz J, Playter K, Nalule E, Natukwatsa D, Wabukoma M, Perez L, Mulondo R, Queally J, Fenster A, Kulkarni A, Schiff S, Grant P, Kabachelor E, Warf B, Sutin J, Lin P. Improving Infant Hydrocephalus Outcomes in Uganda: A Longitudinal Prospective Study Protocol for Predicting Developmental Outcomes and Identifying Patients at Risk for Early Treatment Failure after ETV/CPC. Metabolites 2022, 12: 78. PMID: 35050201, PMCID: PMC8781620, DOI: 10.3390/metabo12010078.Peer-Reviewed Original ResearchCerebral blood flowTreatment failureETV/CPCEarly treatment failureProspective study protocolCerebral tissue oxygenationProgression of hydrocephalusVentriculoperitoneal shunt placementLong-term outcomesEvidence-based guidelinesPost-operative careEndoscopic third ventriculostomyCerebral metabolic rateMulti-center trialChoroid plexus cauterizationGlobal health burdenCURE Children's HospitalYears of agePost-operative measurementsHydrocephalus outcomesNeurodevelopmental outcomesSurgical treatmentNeurodevelopmental assessmentShunt placementChildren's Hospital
2020
Exome sequencing implicates genetic disruption of prenatal neuro-gliogenesis in sporadic congenital hydrocephalus
Jin SC, Dong W, Kundishora AJ, Panchagnula S, Moreno-De-Luca A, Furey CG, Allocco AA, Walker RL, Nelson-Williams C, Smith H, Dunbar A, Conine S, Lu Q, Zeng X, Sierant MC, Knight JR, Sullivan W, Duy PQ, DeSpenza T, Reeves BC, Karimy JK, Marlier A, Castaldi C, Tikhonova IR, Li B, Peña HP, Broach JR, Kabachelor EM, Ssenyonga P, Hehnly C, Ge L, Keren B, Timberlake AT, Goto J, Mangano FT, Johnston JM, Butler WE, Warf BC, Smith ER, Schiff SJ, Limbrick DD, Heuer G, Jackson EM, Iskandar BJ, Mane S, Haider S, Guclu B, Bayri Y, Sahin Y, Duncan CC, Apuzzo MLJ, DiLuna ML, Hoffman EJ, Sestan N, Ment LR, Alper SL, Bilguvar K, Geschwind DH, Günel M, Lifton RP, Kahle KT. Exome sequencing implicates genetic disruption of prenatal neuro-gliogenesis in sporadic congenital hydrocephalus. Nature Medicine 2020, 26: 1754-1765. PMID: 33077954, PMCID: PMC7871900, DOI: 10.1038/s41591-020-1090-2.Peer-Reviewed Original ResearchConceptsCongenital hydrocephalusPoor neurodevelopmental outcomesPost-surgical patientsCerebrospinal fluid accumulationNeural stem cell biologyGenetic disruptionWhole-exome sequencingPrimary pathomechanismEarly brain developmentNeurodevelopmental outcomesHigh morbidityCSF diversionMutation burdenFluid accumulationBrain ventriclesCH casesBrain developmentDe novo mutationsPatientsExome sequencingCSF dynamicsDisease mechanismsHydrocephalusNovo mutationsCell types