2025
Multiomics dissection of human RAG deficiency reveals distinctive patterns of immune dysregulation but a common inflammatory signature
Bosticardo M, Dobbs K, Delmonte O, Martins A, Pala F, Kawai T, Kenney H, Magro G, Rosen L, Yamazaki Y, Yu H, Calzoni E, Lee Y, Liu C, Stoddard J, Niemela J, Fink D, Castagnoli R, Ramba M, Cheng A, Riley D, Oikonomou V, Shaw E, Belaid B, Keles S, Al-Herz W, Cancrini C, Cifaldi C, Baris S, Sharapova S, Schuetz C, Gennery A, Freeman A, Somech R, Choo S, Giliani S, Güngör T, Drozdov D, Meyts I, Moshous D, Neven B, Abraham R, El-Marsafy A, Kanariou M, King A, Licciardi F, Cruz-Muñoz M, Palma P, Poli C, Adeli M, Algeri M, Alroqi F, Bastard P, Bergerson J, Booth C, Brett A, Burns S, Butte M, Padem N, de la Morena M, Dbaibo G, de Ravin S, Dimitrova D, Djidjik R, Dorna M, Dutmer C, Elfeky R, Facchetti F, Fuleihan R, Geha R, Gonzalez-Granado L, Haljasmägi L, Ale H, Hayward A, Hifanova A, Ip W, Kaplan B, Kapoor N, Karakoc-Aydiner E, Kärner J, Keller M, Dávila Saldaña B, Kiykim A, Kuijpers T, Kuznetsova E, Latysheva E, Leiding J, Locatelli F, Alva-Lozada G, McCusker C, Celmeli F, Morsheimer M, Ozen A, Parvaneh N, Pasic S, Plebani A, Preece K, Prockop S, Sakovich I, Starkova E, Torgerson T, Verbsky J, Walter J, Ward B, Wisner E, Draper D, Myint-Hpu K, Truong P, Lionakis M, Similuk M, Walkiewicz M, Klion A, Holland S, Oguz C, Bogunovic D, Kisand K, Su H, Tsang J, Kuhns D, Villa A, Rosenzweig S, Pittaluga S, Notarangelo L, Ghosh R, Siefert B, Tokita M, Yan J, Jodarski C, Kamen M, Gore R, Reynolds-Lallement N, Lewis K, Bannon S, Borges A, Gentile N. Multiomics dissection of human RAG deficiency reveals distinctive patterns of immune dysregulation but a common inflammatory signature. Science Immunology 2025, 10: eadq1697. PMID: 39792639, DOI: 10.1126/sciimmunol.adq1697.Peer-Reviewed Original ResearchConceptsRAG deficiencyRecombination-activating geneImmune dysregulationInflammatory signaturePattern of immune dysregulationT helper 2B cell developmentType I interferonOmenn syndromeImmunological phenotypeImmune profileSelf-antigensB cellsClinical managementDefective TI interferonCellular indicesImmunopathologyPatientsMultiomics approachPhenotypeHypomorphic formDysregulationLineage-specific contributionsDeficiencyNon-Cutaneous Melanoma Biology, Clinical Management, Current Therapy, and Future Directions in Treatment
Brown L, Olino K. Non-Cutaneous Melanoma Biology, Clinical Management, Current Therapy, and Future Directions in Treatment. Surgical Oncology Clinics Of North America 2025 DOI: 10.1016/j.soc.2024.12.006.Peer-Reviewed Original Research
2024
Immunogenicity of cell death and cancer immunotherapy with immune checkpoint inhibitors
Catanzaro E, Beltrán-Visiedo M, Galluzzi L, Krysko D. Immunogenicity of cell death and cancer immunotherapy with immune checkpoint inhibitors. Cellular & Molecular Immunology 2024, 22: 24-39. PMID: 39653769, PMCID: PMC11685666, DOI: 10.1038/s41423-024-01245-8.Peer-Reviewed Original ResearchImmune checkpoint inhibitorsImmunogenic cell deathImmunogenic cell death inducerCheckpoint inhibitorsRefractory to immune checkpoint inhibitorsImmunogenicity of cell deathFraction of patientsCombinatorial treatment strategiesAdaptive immune responsesCell deathCombinatorial partnersCancer immunotherapyCombinatorial regimensClinical findingsClinical managementTreatment strategiesClinical activityImmune responseImmunotherapyPatientsCancerOncology settingInhibitorsDeathInducerArtificial Intelligence, Clinical Decision Support Algorithms, Mathematical Models, Calculators Applications in Infertility: Systematic Review and Hands-On Digital Applications
Bulletti C, Franasiak J, Busnelli A, Sciorio R, Berrettini M, Aghajanova L, Bulletti F, Ata B. Artificial Intelligence, Clinical Decision Support Algorithms, Mathematical Models, Calculators Applications in Infertility: Systematic Review and Hands-On Digital Applications. Mayo Clinic Proceedings Digital Health 2024, 2: 518-532. DOI: 10.1016/j.mcpdig.2024.08.007.Peer-Reviewed Original ResearchClinical decision support algorithmsAssisted reproductive technologyDecision support algorithmEvidence-based guidanceSupport algorithmClinical managementDecision aidImprove in vitro fertilization outcomesSystematic reviewInclusion criteriaRelevant articlesLiterature searchPatient counselingClinical settingRetrospective studyART cyclesAssisted reproductive technology practicesClinical trialsEmbryo assessmentFertility outcomesLack of standardizationReproductive technologyPracticeArtificial intelligenceCounselingClinical Management of Ovarian Function Suppression in Premenopausal Women With Breast Cancer: A Survey of Members of ASCO.
Kelly C, Bennett K, Cahir C, Eisen A, Pusztai L. Clinical Management of Ovarian Function Suppression in Premenopausal Women With Breast Cancer: A Survey of Members of ASCO. JCO Oncology Practice 2024, op2400502. PMID: 39531598, DOI: 10.1200/op-24-00502.Peer-Reviewed Original ResearchOvarian function suppressionBreast cancerFunctional suppressionDuration of aromatase inhibitor therapyHormone receptor-positive breast cancerReceptor-positive breast cancerGonadotropin-releasing hormone agonistAromatase inhibitor therapyPremenopausal patientsInhibitor therapyHormone agonistPremenopausal WomenClinical managementClinical scenariosOncologistsGnRHasASCOE2 assayPractice variationRoutine careGnRHaEstradiolCancerAssay resultsGoserelinManagement of Patients with Advanced Prostate Cancer. Report from the 2024 Advanced Prostate Cancer Consensus Conference (APCCC)
Gillessen S, Turco F, Davis I, Efstathiou J, Fizazi K, James N, Shore N, Small E, Smith M, Sweeney C, Tombal B, Zilli T, Agarwal N, Antonarakis E, Aparicio A, Armstrong A, Bastos D, Attard G, Axcrona K, Ayadi M, Beltran H, Bjartell A, Blanchard P, Bourlon M, Briganti A, Bulbul M, Buttigliero C, Caffo O, Castellano D, Castro E, Cheng H, Chi K, Clarke C, Clarke N, de Bono J, De Santis M, Duran I, Efstathiou E, Ekeke O, El Nahas T, Emmett L, Fanti S, Fatiregun O, Feng F, Fong P, Fonteyne V, Fossati N, George D, Gleave M, Gravis G, Halabi S, Heinrich D, Herrmann K, Hofman M, Hope T, Horvath L, Hussain M, Jereczek-Fossa B, Jones R, Joshua A, Kanesvaran R, Keizman D, Khauli R, Kramer G, Loeb S, Mahal B, Maluf F, Mateo J, Matheson D, Matikainen M, McDermott R, McKay R, Mehra N, Merseburger A, Morgans A, Morris M, Mrabti H, Mukherji D, Murphy D, Murthy V, Mutambirwa S, Nguyen P, Oh W, Ost P, O'Sullivan J, Padhani A, Parker C, Poon D, Pritchard C, Rabah D, Rathkopf D, Reiter R, Renard-Penna R, Ryan C, Saad F, Sade J, Sandhu S, Sartor O, Schaeffer E, Scher H, Sharifi N, Skoneczna I, Soule H, Spratt D, Srinivas S, Sternberg C, Suzuki H, Taplin M, Thellenberg-Karlsson C, Tilki D, Türkeri L, Uemura H, Ürün Y, Vale C, Vapiwala N, Walz J, Yamoah K, Ye D, Yu E, Zapatero A, Omlin A. Management of Patients with Advanced Prostate Cancer. Report from the 2024 Advanced Prostate Cancer Consensus Conference (APCCC). European Urology 2024, 87: 157-216. PMID: 39394013, DOI: 10.1016/j.eururo.2024.09.017.Peer-Reviewed Original ResearchConceptsAdvanced Prostate Cancer Consensus ConferenceProstate Cancer Consensus ConferenceAdvanced prostate cancerProstate cancerClinical managementLack high-level evidenceConsensus conferenceManagement of patientsHigh-level evidenceEvidence-based guidelinesModified Delphi processCancer characteristicsClinical evidenceClinical trialsImpact daily practiceTreatment decisionsWeb-based surveyConsensus questionsPC expertsPatientsMeta-analysisCancerDelphi processDaily practicePanel membersTherapeutic management in women with a diminished ovarian reserve: a systematic review and meta-analysis of randomized controlled trials
Conforti A, Carbone L, Di Girolamo R, Iorio G, Guida M, Campitiello M, Ubaldi F, Rienzi L, Vaiarelli A, Cimadomo D, Ronsini C, Longobardi S, D'Hooghe T, Esteves S, Alviggi C. Therapeutic management in women with a diminished ovarian reserve: a systematic review and meta-analysis of randomized controlled trials. Fertility And Sterility 2024, 123: 457-476. PMID: 39332623, DOI: 10.1016/j.fertnstert.2024.09.038.Peer-Reviewed Original ResearchDiminished ovarian reserveLive birth rateOvarian reserveRandomized controlled trialsClinical management of womenHigher live birth ratesAssociated with higher live birth ratesMeta-analysis of randomized controlled trialsControlled trialsInvestigate adjuvant treatmentsManagement of womenLow-dose gonadotropinsLuteal phase stimulationBirth ratePOSEIDON criteriaCorifollitropin alfaAdjuvant treatmentGonadotropin regimensGnRH antagonistClomiphene citrateLuteinizing hormoneTherapeutic managementTestosterone supplementationClinical managementRandomized trialsADLM Guidance Document on the Measurement and Reporting of Lipids and Lipoproteins
Cao J, Donato L, El-Khoury J, Goldberg A, Meeusen J, Remaley A. ADLM Guidance Document on the Measurement and Reporting of Lipids and Lipoproteins. The Journal Of Applied Laboratory Medicine 2024, 9: 1040-1056. PMID: 39225455, DOI: 10.1093/jalm/jfae057.Peer-Reviewed Original ResearchConceptsNon-HDL-CLDL-C calculationLDL-CLipid panelLipoprotein cholesterolMeasurement of blood lipidsNon-high-density lipoprotein cholesterolElevated concentration of triglyceridesLow-density lipoprotein cholesterolMeasured LDL-CAtherosclerotic disease riskLipid testingConcentrations of triglyceridesClinical managementDisease riskReporting of resultsBlood lipidsPre-analytical requirementsApolipoprotein BFasting requirementsImprove standardsGuidance documentsLipidCholesterolLipoproteinMechanical ventilation guided by driving pressure optimizes local pulmonary biomechanics in an ovine model
Lagier D, Zeng C, Kaczka D, Zhu M, Grogg K, Gerard S, Reinhardt J, Ribeiro G, Rashid A, Winkler T, Vidal Melo M. Mechanical ventilation guided by driving pressure optimizes local pulmonary biomechanics in an ovine model. Science Translational Medicine 2024, 16: eado1097. PMID: 39141699, DOI: 10.1126/scitranslmed.ado1097.Peer-Reviewed Original ResearchConceptsPositive end-expiratory pressureMechanical ventilationFour-dimensional computed tomographyParenchymal strainsVentilator-induced lung injuryAcute respiratory distress syndromeRespiratory system driving pressureManagement of mechanical ventilationPositive end-expiratory pressure valuesRespiratory distress syndromeTidal overdistensionEnd-expiratory pressureAssociated with mortalityPulmonary complicationsLung biomechanicsLung massDistress syndromeClinical outcomesLung injuryComputed tomographyClinical managementGeneral anesthesiaLung collapseDriving pressureLungRapid genome sequencing for critically ill infants: an inaugural pilot study from Turkey
Yilmaz B, Akgun-Dogan O, Ozdemir O, Yuksel B, Ng O, Bilguvar K, Ay B, Ozkose G, Aydin E, Yigit A, Bulut A, Esen F, Beken S, Aktas S, Demirel A, Arcagok B, Kazanci E, Bingol İ, Umur O, Sik G, Isik U, Ersoy M, Korkmaz A, Citak A, Mardinoglu A, Ozbek U, Alanay Y. Rapid genome sequencing for critically ill infants: an inaugural pilot study from Turkey. Frontiers In Pediatrics 2024, 12: 1412880. PMID: 39026936, PMCID: PMC11254770, DOI: 10.3389/fped.2024.1412880.Peer-Reviewed Original ResearchRapid genome sequencingHospital settingReducing unnecessary interventionsImprove patient careCost-effective approach to diagnosisTurkish healthcare systemClinical managementNext-generation sequencingPatient careHealthcare systemCritically ill infantsInclusion criteriaPediatric ICU patientsDelivery of resultsInfant morbidityMendelian conditionsDiagnostic odysseyApproach to diagnosisGenetic conditionsPilot studyUnnecessary interventionsTen infantsGenome sequenceDiagnostic yieldCongenital abnormalitiesExecutive Summary: The Pediatric Extracorporeal Membrane Oxygenation Anticoagulation CollaborativE (PEACE) Consensus Conference*
Alexander P, Bembea M, Cashen K, Cheifetz I, Dalton H, Himebauch A, Karam O, Moynihan K, Nellis M, Ozment C, Raman L, Rintoul N, Said A, Saini A, Steiner M, Thiagarajan R, Watt K, Willems A, Zantek N, Barbaro R, Steffen K, Vogel A, Almond C, Anders M, Annich G, Brandão L, Chandler W, Delaney M, DiGeronimo R, Emani S, Gadepalli S, Garcia A, Haileselassie B, Hyslop R, Kneyber M, Kreuziger L, Le J, Loftis L, McMichael A, McMullan D, Monagle P, Nicol K, Paden M, Patregnani J, Priest J, Raffini L, Ryerson L, Sloan S, Teruya J, Yates A, Gehred A, Lyman E, Muszynski J, in collaboration with the Pediatric Acute Lung Injury and Sepsis Investigators Network T. Executive Summary: The Pediatric Extracorporeal Membrane Oxygenation Anticoagulation CollaborativE (PEACE) Consensus Conference*. Pediatric Critical Care Medicine 2024, 25: 643-675. PMID: 38959353, PMCID: PMC11216385, DOI: 10.1097/pcc.0000000000003480.Peer-Reviewed Original ResearchConceptsExtracorporeal membrane oxygenationCritically ill childrenClinical managementClinical management of neonatesManaging extracorporeal membrane oxygenationConsensus statementExpert-based statementsIll childrenCochrane Library (CENTRALManagement of neonatesManagement of anticoagulationCochrane Library databasesExpert consensus statementSystematic reviewPractice statementsMembrane oxygenationNonprocedural bleedingClinical trialsLibrary databasesConsensus conferencePerioperative careRecommendations AssessmentAnticoagulationClinical careGeneral careO-111 Premature ovarian insufficiency: new data and updated guidance
Panay N, Anderson R, Bennie A, Cedars M, Davies M, Ee C, Gravholt C, Kalantaridou S, Kallen A, Kim K, Misrahi M, Nappi R, Rocca W, Ruan X, Teede H, Vermeulen N, Vogt E, Vincent A. O-111 Premature ovarian insufficiency: new data and updated guidance. Human Reproduction 2024, 39: deae108.122. DOI: 10.1093/humrep/deae108.122.Peer-Reviewed Original ResearchPremature ovarian insufficiencyAmerican Society for Reproductive MedicineEvidence-based recommendationsOvarian insufficiencyInternational Menopause SocietyDiagnosis of premature ovarian insufficiencyIatrogenic premature ovarian insufficiencyManagement of premature ovarian insufficiencyClinical questionsNon-hormonal treatmentsHormone therapyFertility preservationTreatment optionsClinical managementMenopause SocietyGuideline groupDevastating conditionEuropean guidelinesHormone treatmentClinical guidanceSexual functionReproductive medicineMusculoskeletal healthMuscle healthWomen's HealthTemporary Mechanical Circulatory Support after Cardiac Surgery
Keller S, Whitman G, Grant M. Temporary Mechanical Circulatory Support after Cardiac Surgery. Journal Of Cardiothoracic And Vascular Anesthesia 2024, 38: 2080-2088. PMID: 38955616, DOI: 10.1053/j.jvca.2024.06.014.Peer-Reviewed Original ResearchConceptsMechanical circulatory supportCardiac surgical patientsPostcardiotomy shockSurgical patientsAssociated with significant morbidityCirculatory supportArea of clinical investigationDecreased systemic perfusionImprove patient survivalTemporary mechanical circulatory supportMCS devicesCardiac surgeryCardiac arrest algorithmCardiac dysfunctionMultiorgan injuryMyocardial impairmentSignificant morbidityPatient survivalSystemic perfusionPoor outcomeClinical managementClinical investigationRestore perfusionClinical experiencePatientsHigh- versus low-gradient aortic stenosis: Is our evaluation limited by aorto-mitral angle on cardiovascular CT?
See C, Kim Y, Park J, Wang Y, Reinhardt S, Shkolnik E, Faridi K, Lombo B, Bellumkonda L, McNamara R, Sugeng L, Hur D. High- versus low-gradient aortic stenosis: Is our evaluation limited by aorto-mitral angle on cardiovascular CT? International Journal Of Cardiology 2024, 409: 132174. PMID: 38754590, DOI: 10.1016/j.ijcard.2024.132174.Peer-Reviewed Original ResearchNormal-flow low-gradientAortic valve areaTranscatheter AV replacementParadoxical low-flow low-gradientCardiovascular CTTransthoracic echocardiogramCalcium scoreAS patientsDiagnosis of severe ASLow-gradient aortic stenosisHG-AS patientsLG-AS patientsLow-flow low-gradientAorto-mitral angleAortic valve (AV) stenosisLG-ASPLFLG-ASAV replacementSevere ASConsecutive patientsAortic stenosisValve areaAS phenotypeClinical managementEchocardiogramManifestations of human atherosclerosis across vascular beds
Jovin D, Sumpio B, Greif D. Manifestations of human atherosclerosis across vascular beds. JVS-Vascular Insights 2024, 2: 100089. PMID: 39822712, PMCID: PMC11737335, DOI: 10.1016/j.jvsvi.2024.100089.Peer-Reviewed Original ResearchVascular bedClinical managementCarotid arteryCommon risk factorsPeripheral arterial diseaseManagement of carotidClinical management of atherosclerosisEtiology of mortalityIntervention outcomesModel of atherogenesisPathology of atherosclerotic lesionsMedical therapyMeta-analysesTreatment responseFibrotic componentManagement of atherosclerosisLower extremitiesMale sexClinical studiesArtery diseaseMetabolic factorsPeripheral atherosclerosisRisk factorsIndividual patientsVascular territoriesHistorical Perspective of Human Ring Chromosomes
Li P, Liehr T. Historical Perspective of Human Ring Chromosomes. 2024, 3-15. DOI: 10.1007/978-3-031-47530-6_1.Peer-Reviewed Original ResearchRing chromosomesCytogenomic analysisChromosomal structural abnormalitiesPatient advocate organizationsRisk of infertilityGenomic rearrangementsKaryotype evolutionChromosome-specificRelated phenotypesRC formationChromosome casesAffected patientsChromosomeClinical managementMolecular mechanismsRare typeStructural abnormalitiesLaboratory diagnosisClinical heterogeneityDynamic mosaicGenetic counselingMitotic behaviorSystematic evidence reviewOnline registryEvidence-based treatmentsRing Chromosome 21
Zhang H, Chai H. Ring Chromosome 21. 2024, 287-300. DOI: 10.1007/978-3-031-47530-6_25.Peer-Reviewed Original ResearchChromosomal microarray analysisCongenital anomaliesAcute leukemiaFluorescence in situ hybridizationTreatment of congenital anomaliesIncreased risk of miscarriageMultiple congenital anomaliesRisk of miscarriageBone marrow cellsEvaluation of infertilityAdult male patientsAdult female patientsRing chromosome 21Chromosome 21Spectrum of phenotypesGenomic imbalancesCraniofacial dysmorphismFemale patientsMale patientsMarrow cellsChromosome analysisClinical managementIncreased riskDevelopmental delayPatientsClinical management, monitoring, and prophylaxis of adverse events of special interest associated with datopotamab deruxtecan
Heist R, Sands J, Bardia A, Shimizu T, Lisberg A, Krop I, Yamamoto N, Kogawa T, Al-Hashimi S, Fung S, Galor A, Pisetzky F, Basak P, Lau C, Meric-Bernstam F. Clinical management, monitoring, and prophylaxis of adverse events of special interest associated with datopotamab deruxtecan. Cancer Treatment Reviews 2024, 125: 102720. PMID: 38502995, DOI: 10.1016/j.ctrv.2024.102720.Peer-Reviewed Original ResearchNon-small cell lung cancerTriple-negative breast cancerTrophoblast cell surface antigen 2Antibody drug conjugatesAdverse eventsHR+/HER2- BCDelivery of cytotoxic agents to tumor cellsBreast cancerCytotoxic agents to tumor cellsTopoisomerase I inhibitor payloadAgents to tumor cellsInterstitial lung disease/pneumonitisInfusion-related reactionsSolid tumor indicationsPhase I studyCell lung cancerNovel antibody drug conjugatesSystemic therapySafety profileSolid tumorsTumor indicationsTumor cellsLung cancerClinical managementClinical trialsLung infections due to emerging fungal pathogens
Roman F, Pischel L, Azar M. Lung infections due to emerging fungal pathogens. Current Opinion In Pulmonary Medicine 2024, 30: 258-265. PMID: 38411158, DOI: 10.1097/mcp.0000000000001059.Peer-Reviewed Original ResearchConceptsEndemic mycosesManagement of pulmonary infectionsFungal pathogensPathogenic fungiAntifungal prophylaxisBlastomyces speciesFungal infectionsFungal organismsAspergillus moldsEnvironmental changesImmunocompromised hostsPulmonary infectionTherapeutic challengeLung infectionMycosesClinical evidenceClinical managementIncreased incidencePulmonary diseaseEnlarged poolDisease burdenInfectionLomentosporaScedosporiumDiagnostic capabilities599 Differing clinical management for postpartum hemorrhage and associated risk for intensive care unit admission
Son M, Lundsberg L, Dysart K, Partridge C, Burris H, Handley S, Ledyard R, Baisden K, Berhane L, Doamekpor L, Bersoff-Matcha S, Culhane J. 599 Differing clinical management for postpartum hemorrhage and associated risk for intensive care unit admission. American Journal Of Obstetrics And Gynecology 2024, 230: s324-s325. DOI: 10.1016/j.ajog.2023.11.624.Peer-Reviewed Original Research
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