2022
NFB-05. A family-centered neurocutaneous syndrome clinic in the age of targeted therapies
Marks A, Antaya R, Balsamo L, Cardinale K, Cheron R, Frumberg D, Gentile V, Habib L, Puthenpura V, Zhang H. NFB-05. A family-centered neurocutaneous syndrome clinic in the age of targeted therapies. Neuro-Oncology 2022, 24: i129-i129. PMCID: PMC9165028, DOI: 10.1093/neuonc/noac079.469.Peer-Reviewed Original ResearchTuberous sclerosisPediatric patients 2 yearsYale-New Haven Children's HospitalInoperable plexiform neurofibromasPatients 2 yearsOwn side effectsYears of ageNeurofibromatosis type 1Multidisciplinary clinicNeurocutaneous syndromeChildren's HospitalPlexiform neurofibromaNeuro-oncologySide effectsSubspecialty consultationClinicType 1Young adultsSclerosisSyndromeHospitalTherapyAgeTreatmentClinical reasoning
2021
Radiation Necrosis with Proton Therapy in a Patient with Aarskog-Scott Syndrome and Medulloblastoma
Puthenpura V, DeNunzio NJ, Zeng X, Giantsoudi D, Aboian M, Ebb D, Kahle KT, Yock TI, Marks AM. Radiation Necrosis with Proton Therapy in a Patient with Aarskog-Scott Syndrome and Medulloblastoma. International Journal Of Particle Therapy 2021, 8: 58-65. PMID: 35127977, PMCID: PMC8768897, DOI: 10.14338/ijpt-21-00013.1.Peer-Reviewed Original ResearchRadiation necrosisAarskog-Scott syndromeProton beam radiation therapyHigh-dose dexamethasoneGross total resectionHyperbaric oxygen therapyPosterior fossa tumorsBeam radiation therapyGroup 3 medulloblastomaCancer predisposition syndromeRare genetic syndromeConcurrent vincristineTruncal weaknessRadiographic improvementClinical stabilizationOxygen therapyTotal resectionPathologic correlatesGait instabilityFossa tumorsRadiation therapyPossible associationSyndromeDevelopment of medulloblastomaPotential association
2016
MICRODUPLICATION OF 17p[DUP(17)(12p11.2)]: REPORT OF A NEONATE WITH A SPINA BIFIDA AND CARDIAC ANOMALIES AND A LITERATURE REVIEW.
Puvabanditsin S, Gueye-Ndiaye S, Puthenpura V, Gengel N, Tam V, Mehta R. MICRODUPLICATION OF 17p[DUP(17)(12p11.2)]: REPORT OF A NEONATE WITH A SPINA BIFIDA AND CARDIAC ANOMALIES AND A LITERATURE REVIEW. Genetic Counseling 2016, 27: 503-507. PMID: 30226970.Peer-Reviewed Original Research