2025
Novel heterozygous SPI1c.538C>T p.(Leu180Phe) variant causes PU.1 haploinsufficiency leading to agammaglobulinemia
Daddali R, Kettunen K, Turunen T, Knox A, Laine P, Chowdhury I, Vänttinen M, Mamia N, Stiegler A, Boggon T, Kere J, Romberg N, Seppänen M, Varjosalo M, Martelius T, Grönholm J. Novel heterozygous SPI1c.538C>T p.(Leu180Phe) variant causes PU.1 haploinsufficiency leading to agammaglobulinemia. Clinical Immunology 2025, 277: 110503. PMID: 40294836, DOI: 10.1016/j.clim.2025.110503.Peer-Reviewed Original ResearchConceptsDendritic cell countHeterozygous loss-of-function variantsLoss-of-function variantsCentrosome-associated proteinsFamily transcription factorsEts family transcription factorGene expression patternsAssociated with B cell developmentHematopoietic cell fatePDC countsB cell developmentCell countDisrupts gene expression patternsB-cell countsCell fateCarrier sisterSevere bacterial infectionsTranscription factorsIsolated IgA deficiencyFinnish familiesExpression patternsIn vitro studiesIgA deficiencyVariable penetranceIndex patient
2022
SARS-CoV-2 B.1.1.529 (Omicron) Variant Transmission Within Households — Four U.S. Jurisdictions, November 2021–February 2022
Baker J, Nakayama J, O’Hegarty M, McGowan A, Teran R, Bart S, Mosack K, Roberts N, Campos B, Paegle A, McGee J, Herrera R, English K, Barrios C, Davis A, Roloff C, Sosa L, Brockmeyer J, Page L, Bauer A, Weiner J, Khubbar M, Bhattacharyya S, Kirking H, Tate J. SARS-CoV-2 B.1.1.529 (Omicron) Variant Transmission Within Households — Four U.S. Jurisdictions, November 2021–February 2022. MMWR Morbidity And Mortality Weekly Report 2022, 71: 341-346. PMID: 35238860, PMCID: PMC8893332, DOI: 10.15585/mmwr.mm7109e1.Peer-Reviewed Original ResearchConceptsHousehold contactsIndex patientCOVID-19 primary seriesSARS-CoV-2Prevention strategiesCOVID-19 booster doseEffectiveness of prevention strategiesBooster dosePrimary seriesOmicron infectionPatientsOmicron transmissionHousehold transmissionVariant transmissionInfected personsHousehold settingsCOVID-19Cases of COVID-19InfectionOmicron
2018
Evaluating the cost of surveillance for non-muscle-invasive bladder cancer: an analysis based on risk categories
Mossanen M, Wang Y, Szymaniak J, Tan W, Huynh M, Preston M, Trinh Q, Sonpavde G, Kibel A, Chang S. Evaluating the cost of surveillance for non-muscle-invasive bladder cancer: an analysis based on risk categories. World Journal Of Urology 2018, 37: 2059-2065. PMID: 30446799, DOI: 10.1007/s00345-018-2550-x.Peer-Reviewed Original ResearchConceptsBladder cancerProgression to muscle-invasive diseaseNon-muscle-invasive bladder cancerHigh-risk disease patientsEORTC risk calculatorHigh-risk NMIBCManagement of NMIBCMuscle-invasive diseaseLow-risk tumorsBiologically heterogeneous diseaseHigh-risk diseaseSurveillance of patientsMethodsA Markov modelLong-term surveillanceHigh-risk groupPatient risk groupsOverall cost of careCost of surveillanceCost of careIntermediate-riskSurveillance cystoscopyExpensive malignanciesIndex patientPatient basisNMIBCCastration-Resistant Prostate Cancer: AUA Guideline Amendment 2018
Lowrance W, Murad M, Oh W, Jarrard D, Resnick M, Cookson M. Castration-Resistant Prostate Cancer: AUA Guideline Amendment 2018. Journal Of Urology 2018, 200: 1264-1272. PMID: 30086276, DOI: 10.1016/j.juro.2018.07.090.Peer-Reviewed Original ResearchConceptsCastration-resistant prostate cancerNon-metastatic castration-resistant prostate cancerGuideline statementsIndividual patient's treatment goalsNewly-published literatureTreatment of patientsManagement of patientsPatient treatment goalsProstate cancerIndex patientPatientsTreatment goalsClinical practicePatient preferencesMeta-analysisShared decision-makingClinical principlesSystematic reviewPublished literatureSufficient evidenceGuidelinesReviewExpert opinionSystematic literature reviewCancer
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