2025
Clinical and Genetic Profile of Pediatric and Adult Wilson Disease in India
Kulkarni A, Bale G, Vishnubotla R, Rambhatla A, Sharma M, Sabhapandit S, Chintam A, Alla M, Venishetty S, Iyengar S, Komalla R, Ramachandran S, Menon B, Kalapala R, Gupta R, Rao P, Reddy D, Schilsky M, Reddy K. Clinical and Genetic Profile of Pediatric and Adult Wilson Disease in India. Gastro Hep Advances 2025, 100717. DOI: 10.1016/j.gastha.2025.100717.Peer-Reviewed Original ResearchAcute-on-chronic liver failureTransplant-free survivalAcute liver failureLiver failureATP7B mutationsMedian duration of follow-upSingle-center retrospective studyGenetic profile of patientsTransjugular intrahepatic portosystemic shuntDuration of follow-upPathogenic ATP7B variantsLiving donor liver transplantationKaplan Meier analysisIntrahepatic portosystemic shuntDonor liver transplantationGenetic profileProfile of patientsDisorder of copper metabolismMedian durationDecompensated cirrhosisMeier analysisClinical presentationPediatric patientsPediatric groupLiver transplantation
2024
12430 Urine Steroid Profiling In Patients With Unilateral And Bilateral Mild Autonomous Cortisol Secretion
Salama B, Saini J, Fell V, Atkinson E, Achenbach S. 12430 Urine Steroid Profiling In Patients With Unilateral And Bilateral Mild Autonomous Cortisol Secretion. Journal Of The Endocrine Society 2024, 8: bvae163.317. PMCID: PMC11454782, DOI: 10.1210/jendso/bvae163.317.Peer-Reviewed Original ResearchMild autonomous cortisol secretionAutonomous cortisol secretionMacronodular adrenal hyperplasiaUrine steroid profileAdrenal hyperplasiaTumor bulkDehydroepiandrosterone sulfateDST cortisolBilateral macronodular adrenal hyperplasiaInterim analysis of patientsSteroid profileCortisol secretionInterim analysisSingle-center cross-sectional studyAdrenal mass sizeUrine steroid metabolomeBilateral adrenal adenomasCompared to patientsAnalysis of patientsPost-DST cortisolProfile of patientsHigh-resolution mass spectrometry assayPrevalence of comorbiditiesSteroid profile analysisPlasma steroid profilesThe network is more important than the node: stereo-EEG evidence of neurocognitive networks in epilepsy
Murray N, Kneebone A, Graham P, Wong C, Savage G, Gillinder L, Fong M. The network is more important than the node: stereo-EEG evidence of neurocognitive networks in epilepsy. Frontiers In Network Physiology 2024, 4: 1424004. PMID: 39114571, PMCID: PMC11303167, DOI: 10.3389/fnetp.2024.1424004.Peer-Reviewed Original ResearchNeuropsychological dataNeuropsychological assessmentCognitive impairmentCognitive profile of patientsProfile of impairmentManifestations of cognitive impairmentNetwork activityNeurocognitive networksCognitive profileLesion studiesCognitive featuresSeizure onsetFocal interpretationFocal epilepsyImpairmentCognitionPresurgical work-upProfile of patientsGrowing bodyNormative standardsSite of seizure onsetEpilepsyRefractory focal epilepsySeizure onset zoneDirection of propagationA Pilot Study Utilizing Wearable Samplers to Assess Personal Chemical Exposure Profile of Patients With Chronic Obstructive Pulmonary Disease
Huston J, Valle G, Stewart J, Lin E, Zhou J, Liu S, Rochester C, Pollitt K, Dela Cruz C. A Pilot Study Utilizing Wearable Samplers to Assess Personal Chemical Exposure Profile of Patients With Chronic Obstructive Pulmonary Disease. 2024, a3094-a3094. DOI: 10.1164/ajrccm-conference.2024.209.1_meetingabstracts.a3094.Peer-Reviewed Original Research
2023
Germline Variants Incidentally Detected via Tumor-Only Genomic Profiling of Patients With Mesothelioma
Mitchell O, Gilliam K, del Gaudio D, McNeely K, Smith S, Acevedo M, Gaduraju M, Hodge R, Ramsland A, Segal J, Das S, Hathaway F, Bryan D, Tawde S, Galasinski S, Wang P, Tjota M, Husain A, Armato S, Donington J, Ferguson M, Turaga K, Churpek J, Kindler H, Drazer M. Germline Variants Incidentally Detected via Tumor-Only Genomic Profiling of Patients With Mesothelioma. JAMA Network Open 2023, 6: e2327351. PMID: 37556141, PMCID: PMC10413174, DOI: 10.1001/jamanetworkopen.2023.27351.Peer-Reviewed Original ResearchConceptsP/LP germline variantsGermline P/LP variantsP/LP variantsGermline variantsNext-generation sequencingGermline testingGenomic profiles of patientsHereditary cancer syndrome diagnosisTumor-only sequencingProportion of patientsPositive predictive valueProfile of patientsUniversal germline testingCase seriesFollow-upGenomic profilingMesotheliomaSyndrome diagnosisPatientsGermline originPredictive valueP/LPGermlineNon-Hispanic whitesClinical approach
2022
Risk profiling of patients with relapsed/refractory diffuse large B-cell lymphoma by measuring circulating tumor DNA
Herrera A, Tracy S, Croft B, Opat S, Ray J, Lovejoy A, Musick L, Paulson J, Sehn L, Jiang Y. Risk profiling of patients with relapsed/refractory diffuse large B-cell lymphoma by measuring circulating tumor DNA. Blood Advances 2022, 6: 1651-1660. PMID: 35086141, PMCID: PMC8941482, DOI: 10.1182/bloodadvances.2021006415.Peer-Reviewed Original ResearchConceptsCirculating tumor DNAInternational Prognostic IndexProgression-free survivalBaseline circulating tumour DNAEnd of treatmentOverall survivalR/R DLBCLComplete responseTumor DNARelapsed/refractory diffuse large B-cell lymphomaDiffuse large B-cell lymphomaMeasuring circulating tumor DNAShorter progression-free survivalLarge B-cell lymphomaHigh risk of progressionCirculating tumour DNA assaysLactate dehydrogenaseBaseline ctDNA levelRisk profile of patientsB-cell lymphomaRisk of relapseRisk of progressionSerum lactate dehydrogenaseProfile of patientsCtDNA assessment
2021
Clinical significance of hepatosplenic thrombosis in vaccine-induced immune thrombotic thrombocytopenia after ChAdOx1 nCoV-19 vaccination
Hwang J, Han Y, Yon D, Lee S, Kim B, Lee S, Lee M, Park S, Koyanagi A, Jacob L, Tizaoui K, Kim S, Shin J, Smith L. Clinical significance of hepatosplenic thrombosis in vaccine-induced immune thrombotic thrombocytopenia after ChAdOx1 nCoV-19 vaccination. International Journal Of Infectious Diseases 2021, 116: 114-121. PMID: 34958931, DOI: 10.1016/j.ijid.2021.12.352.Peer-Reviewed Original ResearchConceptsVaccine-induced immune thrombotic thrombocytopeniaChAdOx1 nCoV-19 vaccineD-dimer levelsPlatelet countThrombotic thrombocytopeniaCases of vaccine-induced immune thrombotic thrombocytopeniaClinical significanceClinical profile of patientsHigher D-dimer levelsLow platelet countProfile of patientsCOVID-19 vaccine administrationD-dimerCase seriesClinical characteristicsCase reportClinical profileSevere presentationPubMed ePubsWeb of Science databasesThrombosisPatientsVaccine administrationThrombocytopeniaOrgan systemsS332 Determining the Profile of Patients Lost in Follow-up After the Resection of High-Risk Colonic Polyps
Jove A, Cifuentes J, Berger S, Caskey K, Kim H, Gacha M, Jarbrink-Sehgal M, Velez M, Hair C, Sealock R, Ketwaroo G. S332 Determining the Profile of Patients Lost in Follow-up After the Resection of High-Risk Colonic Polyps. The American Journal Of Gastroenterology 2021, 116: s144-s144. DOI: 10.14309/01.ajg.0000773800.52079.e4.Peer-Reviewed Original Research
2019
A comparison of benign positional vertigo and stroke patients presenting to the emergency department with vertigo or dizziness
Hanna J, Malhotra A, Brauer PR, Luryi A, Michaelides E. A comparison of benign positional vertigo and stroke patients presenting to the emergency department with vertigo or dizziness. American Journal Of Otolaryngology 2019, 40: 102263. PMID: 31358317, DOI: 10.1016/j.amjoto.2019.07.007.Peer-Reviewed Original ResearchConceptsBenign paroxysmal positional vertigoStroke risk factorsCT/CTAEmergency departmentBPPV patientsNeurologic symptomsStroke patientsRisk factorsPositional vertigoCT headExam findingsNeurologic exam findingsPosterior circulation strokeProfile of patientsBenign positional vertigoParoxysmal positional vertigoCommon imaging modalityAcute strokeNeurologic examInitial imagingMRI brainDischarge diagnosisComputed tomographyPatientsVertigoDifferential Clinical Profiles, Exercise Responses, and Outcomes Associated With Existing HFpEF Definitions
Ho J, Zern E, Wooster L, Bailey C, Cunningham T, Eisman A, Hardin K, Zampierollo G, Jarolim P, Pappagianopoulos P, Malhotra R, Nayor M, Lewis G. Differential Clinical Profiles, Exercise Responses, and Outcomes Associated With Existing HFpEF Definitions. Circulation 2019, 140: 353-365. PMID: 31132875, PMCID: PMC6684250, DOI: 10.1161/circulationaha.118.039136.Peer-Reviewed Original ResearchConceptsHeart Failure Society of AmericaEuropean Society of CardiologyClinical profileHeart failureCardiovascular outcomesComprehensive cardiopulmonary exercise testingHemodynamic profile of patientsChronic exertional dyspneaDefinitions of HFpEFExercise responseSuspected heart failureAmerican College of Cardiology/American Heart AssociationInvasive hemodynamic monitoringPhenotype of patientsIncidence of cardiovascular outcomesCardiopulmonary exercise testingProfile of patientsClinical trial criteriaSociety of CardiologyPeak oxygen uptakeConsecutive patientsHFpEF subgroupsEjection fractionExertional dyspneaPrognostic implications
2015
PLEKHA5 as a Biomarker and Potential Mediator of Melanoma Brain Metastasis
Jilaveanu LB, Parisi F, Barr ML, Zito CR, Cruz-Munoz W, Kerbel RS, Rimm DL, Bosenberg MW, Halaban R, Kluger Y, Kluger HM. PLEKHA5 as a Biomarker and Potential Mediator of Melanoma Brain Metastasis. Clinical Cancer Research 2015, 21: 2138-2147. PMID: 25316811, PMCID: PMC4397107, DOI: 10.1158/1078-0432.ccr-14-0861.Peer-Reviewed Original ResearchMeSH KeywordsAdultAgedAged, 80 and overBiomarkers, TumorBrain NeoplasmsCell Line, TumorFemaleFluorescent Antibody TechniqueGene Expression ProfilingHumansImage Processing, Computer-AssistedIntracellular Signaling Peptides and ProteinsMaleMelanomaMiddle AgedNeoplasm InvasivenessTissue Array AnalysisTranscriptomeYoung AdultConceptsCell line modelsBlood-brain barrierBrain metastasesGene expression profilesGene expression profilingExpression profilingExpression profilesPLEKHA5Brain metastasis-free survivalA375P cellsQuantitative immunofluorescenceEarly brain metastasisMelanoma brain metastasesMetastasis-free survivalProfile of patientsPotential mediatorsProtein levelsMetastatic melanoma casesEarly developmentMelanoma cellsKnockdownDecrease proliferationBBB transmigrationExtracerebral sitesMetastatic sites
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