2025
Association of clinical manifestations and immune alterations with genetic variants of uncertain significance in patients concerned for inborn errors of immunity
Novotny S, Yoo N, Chen J, Granoth M, Kohli-Pamnani A, Hsu F, Rodenas M, Steele R, Kaman K, Soffer G, Price C, Kuster J, Kang I, Osmani L, Shin J. Association of clinical manifestations and immune alterations with genetic variants of uncertain significance in patients concerned for inborn errors of immunity. Clinical Immunology 2025, 277: 110513. PMID: 40354868, DOI: 10.1016/j.clim.2025.110513.Peer-Reviewed Original ResearchInborn errors of immunityErrors of immunityGenetic variantsInborn errorsAssociation of clinical manifestationsGene clusterGene functionStudy evaluated associationsImmune alterationsDiagnostic challengeClinical manifestationsImmunological profileGenetic testingVUSGenesImmunological characteristicsImmune functionLaboratory dataImmunityVariantsAssociationPatientsBiomarkers in Autosomal Dominant Tubulointerstitial Kidney Disease
Li M, Jiang L, Liu Z, You R, Li Y, Xiang C, Yang L, Zhang H, Zhou X. Biomarkers in Autosomal Dominant Tubulointerstitial Kidney Disease. Integrative Medicine In Nephrology And Andrology 2025, 12 DOI: 10.1097/imna-d-24-00050.Peer-Reviewed Original ResearchAutosomal dominant tubulointerstitial kidney diseaseChronic kidney diseaseTubulointerstitial kidney diseaseKidney diseaseProgressive chronic kidney diseaseDelay kidney failureVariable clinical featuresUric acid levelsControl blood pressureRenal interstitial fibrosisImprove patient outcomesPotential therapeutic targetClinical featuresClinical manifestationsTreatment optionsInterstitial fibrosisInsidious onsetClinical indicationsDisease progressionTubular proteinuriaEarly diagnosisBlood pressurePathological featuresAdvanced stageKidney failureSocial functioning and frontal alpha asymmetry in schizophrenia
Farina E, Assaf M, Corbera S, Choi J, Yantz C, Chen C. Social functioning and frontal alpha asymmetry in schizophrenia. Journal Of Psychiatric Research 2025, 182: 74-82. PMID: 39799666, PMCID: PMC11830537, DOI: 10.1016/j.jpsychires.2025.01.006.Peer-Reviewed Original ResearchConceptsFrontal alpha asymmetryAutism spectrum disorderReduced social functioningSocial functioningNeurophysiological markersAlpha asymmetryPsychiatric disordersAtypical social behaviorUnique to schizophreniaSelf-report measuresHealthy controlsResting-state electroencephalogramClinical interviewPsychiatric diagnosisSchizophreniaSpectrum disorderDiagnostic groupsReduced motivationSocial behaviorDisordersEmotional tendencyAnalysis of varianceClinical manifestationsElectroencephalogramAutismPhenotype Spectrum of TRPM3‐Associated Disorders
Jolitz L, Helbig I, Fitzgerald M, Ruggiero S, Cohen S, Angelini C, Vallespin E, Michaud V, Gerasimenko A, Cogne B, Isidor B, Keren B, Dyment D, Heron D, Karstensen H, Cuppen I, Christodoulou J, Wilson M, Lake N, Biskup S, Syrbe S, Mori T, Becker L, Kaindl A. Phenotype Spectrum of TRPM3‐Associated Disorders. Annals Of Neurology 2025, 97: 561-570. PMID: 39749750, PMCID: PMC11831877, DOI: 10.1002/ana.27141.Peer-Reviewed Original ResearchConceptsEffective anti-seizure medicationDevelopmental delayGain-of-function variantsDevelopmental delay/intellectual disabilitySpike wave activityAnti-seizure medicationsPreponderance of girlsSystematic literature searchOcular involvementMedian ageMusculoskeletal anomaliesClinical spectrumAxial hypotoniaDysmorphic featuresElectroencephalogram abnormalitiesEffects of treatmentClinical manifestationsTreated patientsEpileptic encephalopathyMonoallelic variantsTreatment optionsFrequent findingPhenotypic spectrumVariant p.Epilepsy phenotypeChapter 14 Molecular biology, genetic, and epigenetics of kidney tumor
Kazemi R, Rezaeian A, Deyhimfar R, Taheri D. Chapter 14 Molecular biology, genetic, and epigenetics of kidney tumor. 2025, 209-221. DOI: 10.1016/b978-0-443-27302-5.00003-6.Peer-Reviewed Original ResearchDNA damage repair genesKidney cancer developmentRenal cell carcinomaTumor suppressor genePlanning therapeutic strategiesRenal tumorsUrothelial carcinomaWilms tumorCell carcinomaRenal sarcomaKidney tumorsClinical manifestationsUrological cancersKidney cancerPredisposing genesSuppressor geneTherapeutic strategiesCancer developmentTumorRepair genesCancerCarcinomaKidneyGenetic basisGenetic changesChapter 52 Obsessive–compulsive disorder
Abdallah S, Olfson E, Fernandez T. Chapter 52 Obsessive–compulsive disorder. 2025, 937-950. DOI: 10.1016/b978-0-443-19176-3.00011-x.ChaptersObsessive-compulsive disorderObsessive-compulsive disorder etiologiesCognitive behavioral therapySerotonin reuptake inhibitorsReuptake inhibitorsBehavioral therapyMedication augmentationNeuroanatomical alterationsNeurochemical imbalanceMedication trialsGenetic influencesImprove treatment outcomesEvidence-based therapeutic strategiesTreatment outcomesRobust clinical trialsDisordersClinical manifestationsTreatment optionsClinical trialsTherapeutic strategiesSerotoninMultifactorial naturePharmacotherapyNeuromodulationTrials
2024
Coinfection and clinical impact of enterotoxigenic Escherichia coli harboring diverse toxin variants and colonization factors: 2017-2022
Amin M, Akhtar M, Khan Z, Islam T, Firoj G, Begum Y, Rahman S, Afrad M, Bhuiyan T, Chowdhury F, Faruque A, Ryan E, Qadri F, Khan A. Coinfection and clinical impact of enterotoxigenic Escherichia coli harboring diverse toxin variants and colonization factors: 2017-2022. International Journal Of Infectious Diseases 2024, 151: 107365. PMID: 39694230, PMCID: PMC11798591, DOI: 10.1016/j.ijid.2024.107365.Peer-Reviewed Original ResearchEnterotoxigenic Escherichia coliCo-infectionVibrio choleraeEnterotoxigenic Escherichia coli infectionDiarrheal Disease Surveillance SystemLikelihood of feverRisk of vomitingColonization factorsOverburden healthcare systemsShigella sppV. choleraeToxin variantsSalmonella sppEnteric pathogensClinical outcomesClinical manifestationsClinical impactIntravenous fluidsRisk factorsIllness severityVibrioPatientsRotavirusDisease surveillance systemsInfectionNovel PIBF1 Pathogenic Variant in Three Siblings with Joubert Syndrome Type 33
Aynekin B, Samur B, Gumus U, Bilguvar K, Gulec A, Efthymiou S, Gumus H, Caglayan A, Per H. Novel PIBF1 Pathogenic Variant in Three Siblings with Joubert Syndrome Type 33. Molecular Syndromology 2024, 1-10. DOI: 10.1159/000543107.Peer-Reviewed Original ResearchMolar tooth signRare autosomal recessive disorderOptic nerve atrophySevere renal diseaseAutosomal recessive disorderHomozygous nonsense mutationWhole-exome sequencingNerve atrophyRenal atrophyDisease-causing genesClinical spectrumClinical featuresDysmorphic featuresClinical manifestationsPhenotypic expansionDiagnostic awarenessHomozygous mutationJoubert syndromePathogenic variantsPatient's seizuresRecessive disorderRenal diseaseNonsense mutationDevelopmental delayKidney failureAge-dependent pathogenic profiles of enterotoxigenic Escherichia coli diarrhea in Bangladesh
Akhtar M, Begum Y, Isfat Ara Rahman S, Afrad M, Parvin N, Akter A, Tauheed I, Amin M, Ryan E, Khan A, Chowdhury F, Bhuiyan T, Qadri F. Age-dependent pathogenic profiles of enterotoxigenic Escherichia coli diarrhea in Bangladesh. Frontiers In Public Health 2024, 12: 1484162. PMID: 39726651, PMCID: PMC11669683, DOI: 10.3389/fpubh.2024.1484162.Peer-Reviewed Original ResearchEnterotoxigenic Escherichia coliETEC infectionColonization factorsEnterotoxigenic Escherichia coli strainsEnterotoxigenic Escherichia coli infectionEnterotoxigenic Escherichia coli diarrheaETEC casesClinical manifestationsETEC-associated diarrheaHost-pathogen interactionsAge groupsPrevalence of antimicrobial resistanceDevelopment of targeted vaccinesETEC antigensETEC diarrheaVirulence factorsYears age groupDiarrheal patientsHospital surveillance dataToxin typesAge-specific distributionChildren aged 0Pediatric casesAntimicrobial resistanceCFA/IValidation of Metallothionein Immunohistochemistry as a Highly Sensitive Screening Test for Wilson Disease
Stokes N, Patil A, Adeyi O, Bhalla A, Brown I, Byrnes K, Calderaro J, Chen D, Chen W, Cooper C, Dhall D, Frankel W, Gooch G, Gonzalez R, Hammer S, Hale G, Lagana S, McKenzie C, Allende D, Moreira R, Nakhleh R, Nalbantoglu I, Pai R, Salomao M, Schaeffer D, Shih A, Shin J, Simoes C, Vij M, Rela M, Xue Y, Yantiss R, Sabatto B, Graham R. Validation of Metallothionein Immunohistochemistry as a Highly Sensitive Screening Test for Wilson Disease. Modern Pathology 2024, 38: 100628. PMID: 39384020, DOI: 10.1016/j.modpat.2024.100628.Peer-Reviewed Original ResearchWilson's diseaseHistological featuresRare autosomal recessive conditionChronic cholestatic diseaseProtean clinical manifestationsEvaluation of patientsAutosomal recessive conditionSensitive screening testCase of WDCost-effective screening toolRoutine histologic sectionsMedian ageNeedle biopsyCholestatic diseasesWD patientsFibrosis stageClinical manifestationsHistopathological patternsATP7B mutationsHistological patternWD diagnosisTissue specimensAssessed patientsImmunohistochemistryMasson's trichromeAn unusual case of primary melioidotic prostatic disease: Misdiagnosed as benign prostatic hyperplasia
Cai Y, Jiang H, Li T, Luo D, Li P, Wang Y. An unusual case of primary melioidotic prostatic disease: Misdiagnosed as benign prostatic hyperplasia. Heliyon 2024, 10: e37906. PMID: 39323819, PMCID: PMC11422042, DOI: 10.1016/j.heliyon.2024.e37906.Peer-Reviewed Original ResearchBenign prostatic hyperplasiaProstate diseaseProstatic hyperplasiaBurkholderia pseudomallei</i>.Urine culturePulmonary infectionTrimethoprim-sulfamethoxazoleSurvival rate of patientsTreated with imipenemUrinary tract infectionAnti-infective treatmentRate of patientsHistory of hypertensionYear old maleMultiple organ damageProstatic abscessTract infectionsInflammatory markersClinical manifestationsCure rateUnusual caseFatal infectious diseaseOrgan damageDifficulty urinatingSurvival rateClinical and Histologic Variants of CD8+ Cutaneous T-Cell Lymphomas
Swallow M, Micevic G, Zhou A, Carlson K, Foss F, Girardi M. Clinical and Histologic Variants of CD8+ Cutaneous T-Cell Lymphomas. Cancers 2024, 16: 3087. PMID: 39272944, PMCID: PMC11394026, DOI: 10.3390/cancers16173087.Peer-Reviewed Original ResearchT-cell lymphomaPrimary cutaneous gamma/delta T-cell lymphomaSubcutaneous panniculitis-like T-cell lymphomaLymphoproliferative disordersMycosis fungoidesCD8+ cutaneous T-cell lymphomasCutaneous gamma/delta T-cell lymphomaPanniculitis-like T-cell lymphomaGamma/delta T-cell lymphomaCytotoxic T-cell lymphomaT-cell lymphoproliferative disorderAbnormal T-cell populationCutaneous T-cell lymphomaCytotoxic molecule expressionT cell populationsIndicator of prognosisAppropriate treatment planCD8-positiveAggressive entityLymphomatoid papulosisHistological variantsHistopathological differentiationTreatment algorithmCD8Clinical manifestations52284 Influence of Biological Sex on Clinical Manifestation in Moderate-to-Severe Atopic Dermatitis and on Dupilumab Treatment Effectiveness
Zink A, Beck L, Lebwohl M, Gooderham M, Strober B, Maul J, Pinter A, Johansson E, Chen Z, Hagen S, Bastian M. 52284 Influence of Biological Sex on Clinical Manifestation in Moderate-to-Severe Atopic Dermatitis and on Dupilumab Treatment Effectiveness. Journal Of The American Academy Of Dermatology 2024, 91: ab240. DOI: 10.1016/j.jaad.2024.07.952.Peer-Reviewed Original ResearchPathophysiology of Cystic Fibrosis Liver Disease
Kasper V, Assis D. Pathophysiology of Cystic Fibrosis Liver Disease. Pediatric Pulmonology 2024, 59: s98-s106. PMID: 39105342, DOI: 10.1002/ppul.26869.Peer-Reviewed Original ResearchConceptsComplication of cystic fibrosisCF liver diseaseHeterogeneity of clinical manifestationsManifestations of CFDisease-modifying factorsCFTR mutationsHepatobiliary complicationsBiliary stricturesBiliary cholestasisClinical manifestationsCystic fibrosisLiver diseaseTherapeutic approachesCF careDisease modelsDiseaseDisorders with Ophthalmic and Thoracic Involvement.
Gosangi B, Lang P, Johnson M, Zukerman R, Tu L, Traube L, Bader A, Rubinowitz A. Disorders with Ophthalmic and Thoracic Involvement. RadioGraphics 2024, 44: e230132. PMID: 38870047, DOI: 10.1148/rg.230132.Peer-Reviewed Original ResearchConceptsClinical manifestationsExamination of family membersEhlers-Danlos syndromeAffecting patient outcomesAcute sarcoidosisOphthalmologic examinationThoracic symptomsDry eyeThoracic involvementOphthalmological symptomsOphthalmologic manifestationsEye symptomsMarfan syndromeSjogren's syndromeImaging findingsRadiological studiesLung diseasePatient outcomesEhlers-DanlosFamily membersMultimodal imagingSystem conditionsSyndromeThoracicSarcoidosisCharacterizing the distinct imaging phenotypes, clinical behavior, and genetic vulnerability of brain maturational subtypes in mood disorders.
Zheng J, Zong X, Tang L, Guo H, Zhao P, Womer F, Zhang X, Tang Y, Wang F. Characterizing the distinct imaging phenotypes, clinical behavior, and genetic vulnerability of brain maturational subtypes in mood disorders. Psychological Medicine 2024, 54: 2774-2784. PMID: 38804091, DOI: 10.1017/s0033291724000886.Peer-Reviewed Original ResearchGray matter volumeMood disordersGenetic vulnerabilityDepressive disorderHeterogeneity of mood disordersRegional gray matter volumeDrug-free patientsClinical behaviorIncreased genetic vulnerabilityGenetic riskSevere depressive symptomsClinical manifestationsBipolar disorderDrug-naiveFrontal cortexPolygenic risk scoresMatter volumeDepressive symptomsNeurocognitive assessmentCognitive impairmentPrimary motor cortexBehavioral termsDisordersHealthy controlsMotor cortexTemporal arteritis presenting as third nerve palsy - a case report and review of literature
Arya PV A, Madathanapalli K, Tenezaca F, Wang A. Temporal arteritis presenting as third nerve palsy - a case report and review of literature. Rheumatology International 2024, 44: 2245-2251. PMID: 38739224, DOI: 10.1007/s00296-024-05604-6.Peer-Reviewed Original ResearchGiant cell arteritisThird nerve palsyPupil-sparing third nerve palsyNerve palsyTemporal arteritisHistory of well-controlled hypertensionPresentation of giant cell arteritisDiagnosis of giant cell arteritisOral steroid taperPulse-dose steroidsWell-controlled hypertensionYear smoking historyLumbar spine stenosisLarge vessel vasculitisMonths follow-upSteroid taperJaw claudicationElevated ESRAcute abnormalitiesMicrovascular ischemiaPrimary presentationVessel vasculitisBladder cancerCase reportClinical manifestationsNon-dominant, Lesional Neocortical Temporal Lobe Epilepsy
Herlopian A. Non-dominant, Lesional Neocortical Temporal Lobe Epilepsy. 2024, 105-134. DOI: 10.1007/978-3-031-23828-4_6.Peer-Reviewed Original ResearchVacuolating neuronal tumorInterictal high-frequency oscillationsDysembryoplastic neuroepithelial tumorEpileptic networkSurgical decision-making processFocal cortical dysplasiaNeuroepithelial tumorsNeuronal tumorsRadiological findingsCortical dysplasiaClinical manifestationsIctal semiologyPharmacoresistant epilepsyDystonic posturingTumorHigh-frequency oscillationsRing Chromosome 13
Li P, Chong M. Ring Chromosome 13. 2024, 201-214. DOI: 10.1007/978-3-031-47530-6_17.Peer-Reviewed Original ResearchChromosomal microarray analysisFluorescence in situ hybridizationGenomic imbalancesMaternal germline mosaicismRing chromosome 13Termination of pregnancyMother-to-daughter transmissionGenotype-phenotype correlationConsecutive pregnanciesHearing lossGermline mosaicismCraniofacial dysmorphismClinical featuresClinical manifestationsPrenatal diagnosisAdult casesChromosome 13Skeletal anomaliesGenetic counselingDevelopmental delayMicroarray analysisDelayed speechClinical geneticistsDynamic mosaicPatientsRing Chromosome 19
Wen J, Chong M. Ring Chromosome 19. 2024, 271-278. DOI: 10.1007/978-3-031-47530-6_23.Peer-Reviewed Original ResearchPercentage of mosaicismRare chromosomal aberrationGenotype-phenotype correlationSeverity of clinical featuresGenomic investigationsChromosome 19Genetic imbalanceVariable clinical manifestationsRare genetic abnormalitySurvive into adulthoodCarrier parentsSevere phenotypeClinical featuresLaboratory findingsInherited casesClinical manifestationsGenetic abnormalitiesChromosomal aberrationsClinical implicationsMosaicismFamilial transmissionPhenotypeComprehensive understandingIntellectual disabilityPatients
This site is protected by hCaptcha and its Privacy Policy and Terms of Service apply