2023
Patients With Down Syndrome and Total Hip and Total Knee Arthroplasty: Outcome Measures Show Increased Risk of Perioperative Complications
Halperin S, Dhodapkar M, Radford Z, Frumberg D, Rubin L, Grauer J. Patients With Down Syndrome and Total Hip and Total Knee Arthroplasty: Outcome Measures Show Increased Risk of Perioperative Complications. JAAOS Global Research And Reviews 2023, 7: e23.00108. PMID: 38054749, PMCID: PMC10697628, DOI: 10.5435/jaaosglobal-d-23-00108.Peer-Reviewed Original ResearchConceptsTotal knee arthroplastyTotal hip arthroplastyAcute kidney injuryUrinary tract infectionAdverse eventsDown syndromePostoperative eventsKnee arthroplastyRevision ratePerioperative risk assessmentMinor adverse eventsOutcomes of patientsMultivariable logistic regressionTotal joint arthroplastyPatient/family counselingKidney injuryPerioperative complicationsTKA patientsAdult patientsTract infectionsDS patientsIncreased riskTotal hipCare pathwayJoint arthroplastyThe common trisomy syndromes, their cardiac implications, and ethical considerations in care
Kosiv K, Mercurio M, Carey J. The common trisomy syndromes, their cardiac implications, and ethical considerations in care. Current Opinion In Pediatrics 2023, 35: 531-537. PMID: 37551160, DOI: 10.1097/mop.0000000000001278.Peer-Reviewed Original ResearchConceptsCongenital heart diseaseCardiac surgeryHeart diseaseTrisomy 13Trisomy 21Cardiac surgical repairCongenital heart surgeryCardiac implicationsPulmonary hypertensionSurgical repairSurgical interventionPatient populationHeart surgerySurgeryTreatment planCommon trisomiesDiseaseTrisomyCareSurvivalHypertensionMorbidityPatientsManagementEthical controversies
2022
Rescue of deficits by Brwd1 copy number restoration in the Ts65Dn mouse model of Down syndrome
Fulton S, Wenderski W, Lepack A, Eagle A, Fanutza T, Bastle R, Ramakrishnan A, Hays E, Neal A, Bendl J, Farrelly L, Al-Kachak A, Lyu Y, Cetin B, Chan J, Tran T, Neve R, Roper R, Brennand K, Roussos P, Schimenti J, Friedman A, Shen L, Blitzer R, Robison A, Crabtree G, Maze I. Rescue of deficits by Brwd1 copy number restoration in the Ts65Dn mouse model of Down syndrome. Nature Communications 2022, 13: 6384. PMID: 36289231, PMCID: PMC9606253, DOI: 10.1038/s41467-022-34200-0.Peer-Reviewed Original ResearchMeSH KeywordsAnimalsChromatinCognition DisordersDisease Models, AnimalDNA Copy Number VariationsDown SyndromeMiceMice, TransgenicConceptsGene expressionChromatin accessibilityChromatin effectorsBAF chromatinGenetic basisTrisomic animalsIPS cellsBRWD1Chromosome 21Down syndromeHSA21Ts65Dn mouse modelCommon chromosomal conditionExpressionChromatinNormal neurodevelopmentChromosomal conditionHippocampal LTPMouse modelMistargetingGenesTrisomic miceCognitive deficitsEffectorsSyndromeEpigenome-Wide Association Study of Acute Lymphoblastic Leukemia in Children with Down Syndrome
Li S, Sok P, Xu K, Muskens IS, Elliott N, Myint SS, Pandey P, Hansen HM, Morimoto LM, Kang AY, Metayer C, Ma X, Mueller BA, Roy A, Roberts I, Rabin KR, Brown AL, Lupo PJ, Wiemels JL, de Smith AJ. Epigenome-Wide Association Study of Acute Lymphoblastic Leukemia in Children with Down Syndrome. Blood Advances 2022, 6: 4132-4136. PMID: 35588500, PMCID: PMC9327551, DOI: 10.1182/bloodadvances.2022007098.Peer-Reviewed Original ResearchHuman Down syndrome microglia are up for a synaptic feast
Kiral FR, Park IH. Human Down syndrome microglia are up for a synaptic feast. Cell Stem Cell 2022, 29: 1007-1008. PMID: 35803219, DOI: 10.1016/j.stem.2022.06.008.Peer-Reviewed Original ResearchAccelerated epigenetic aging in newborns with Down syndrome
Xu K, Li S, Muskens IS, Elliott N, Myint SS, Pandey P, Hansen HM, Morimoto LM, Kang AY, Ma X, Metayer C, Mueller BA, Roberts I, Walsh KM, Horvath S, Wiemels JL, de Smith A. Accelerated epigenetic aging in newborns with Down syndrome. Aging Cell 2022, 21: e13652. PMID: 35661546, PMCID: PMC9282838, DOI: 10.1111/acel.13652.Peer-Reviewed Original ResearchMeSH KeywordsAdultAgingAging, PrematureDNA MethylationDown SyndromeEpigenesis, GeneticEpigenomicsHumansInfant, NewbornConceptsDown syndromeAge accelerationEpigenetic age accelerationGestational age accelerationEarly-onset Alzheimer's diseaseTransient abnormal myelopoiesisPotential confounding factorsEpigenetic agingPremature agingSomatic GATA1 mutationsDS patientsAbnormal myelopoiesisBlood cell proportionsNewbornsAlzheimer's diseaseConfounding factorsBrain tissueCell proportionGATA1 mutationsEndocrine systemBloodTargeted sequencingSomatic mutationsSyndromeDisease
2021
Risks of covid-19 hospital admission and death for people with learning disability: population based cohort study using the OpenSAFELY platform
Williamson EJ, McDonald HI, Bhaskaran K, Walker AJ, Bacon S, Davy S, Schultze A, Tomlinson L, Bates C, Ramsay M, Curtis HJ, Forbes H, Wing K, Minassian C, Tazare J, Morton CE, Nightingale E, Mehrkar A, Evans D, Inglesby P, MacKenna B, Cockburn J, Rentsch CT, Mathur R, Wong AYS, Eggo RM, Hulme W, Croker R, Parry J, Hester F, Harper S, Douglas IJ, Evans SJW, Smeeth L, Goldacre B, Kuper H. Risks of covid-19 hospital admission and death for people with learning disability: population based cohort study using the OpenSAFELY platform. The BMJ 2021, 374: n1592. PMID: 34261639, PMCID: PMC8278652, DOI: 10.1136/bmj.n1592.Peer-Reviewed Original ResearchConceptsCovid-19 related hospital admissionRelated hospital admissionsNon-COVID deathsHospital admissionOpenSAFELY platformDown syndromeCohort studyHazard ratioCerebral palsyDisability registersGeneral practiceCOVID-19COVID-19 hospital admissionsMain exposure groupsCOVID-19 vaccinationHospital admission dataPatient-level dataLow event ratesNon-COVID causesCOVID-19 testingTargeted preventive measuresWave 2Wave 1Electronic health recordsProfound learning disabilitiesInstitutional Variation in Gastrostomy Tube Placement After Duodenal Atresia Repair in Children With Trisomy 21
Maassel NL, Guerra ME, Solomon DG, Stitelman DH. Institutional Variation in Gastrostomy Tube Placement After Duodenal Atresia Repair in Children With Trisomy 21. Journal Of Pediatric Gastroenterology And Nutrition 2021, 73: 560-565. PMID: 34238829, DOI: 10.1097/mpg.0000000000003227.Peer-Reviewed Original ResearchConceptsPediatric Health Information SystemGastrostomy tube placementDuodenal atresiaGastrostomy tubeGastrostomy placementTube placementTrisomy 21Index admissionIntestinal bypassDiagnostic codesAtresia repairICD-10 diagnostic codesDuodenal atresia repairPost-operative managementInstitutional practice patternsLength of stayProcedure codesBaseline characteristicsRetrospective reviewPractice patternsPatientsHealth information systemsGastrostomyNeonatesAdmissionCumulus cells of euploid versus whole chromosome 21 aneuploid embryos reveal differentially expressed genes
Tiegs AW, Titus S, Mehta S, Garcia-Milian R, Seli E, Scott RT. Cumulus cells of euploid versus whole chromosome 21 aneuploid embryos reveal differentially expressed genes. Reproductive BioMedicine Online 2021, 43: 614-626. PMID: 34417138, DOI: 10.1016/j.rbmo.2021.06.015.Peer-Reviewed Original ResearchConceptsSerum response factorCumulus cellsDifferential gene expressionRNA sequencing analysisGene expression analysisIngenuity Pathway AnalysisCellular communication network factor 1Embryo developmental competenceExpression analysisPreimplantation embryo qualityGene expressionPathway analysisSegment polarity protein 2Sequencing analysisGenesProtein 2Response factorTrisomy 21Factor 1Developmental competenceAneuploid embryosReal-time polymerase chain reaction assaysDevelopment of biomarkersEmbryosCellsThe genome-wide impact of trisomy 21 on DNA methylation and its implications for hematopoiesis
Muskens IS, Li S, Jackson T, Elliot N, Hansen HM, Myint SS, Pandey P, Schraw JM, Roy R, Anguiano J, Goudevenou K, Siegmund KD, Lupo PJ, de Bruijn MFTR, Walsh KM, Vyas P, Ma X, Roy A, Roberts I, Wiemels JL, de Smith AJ. The genome-wide impact of trisomy 21 on DNA methylation and its implications for hematopoiesis. Nature Communications 2021, 12: 821. PMID: 33547282, PMCID: PMC7865055, DOI: 10.1038/s41467-021-21064-z.Peer-Reviewed Original ResearchMeSH KeywordsCase-Control StudiesCore Binding Factor Alpha 2 SubunitCpG IslandsDNA MethylationDown SyndromeEpigenesis, GeneticFemaleFetusGATA1 Transcription FactorGenome-Wide Association StudyGenome, HumanHematopoiesisHematopoietic Stem CellsHumansInfant, NewbornLiverMalePromoter Regions, GeneticProto-Oncogene Protein c-fli-1ConceptsDNA methylationGenome-wide impactGenome-wide effectsGenome-wide perturbationsPromoter/enhancer regionEpigenome-wide association studiesAssociation study resultsGene expression changesHematopoietic stem/progenitor cellsCell-type heterogeneityStem/progenitor cellsEpigenome-wide significant CpGsHematopoietic developmentDifferential methylationEpigenetic changesGene expressionPromoter regionEnhancer regionExpression changesAssociation studiesSignificant CpGsImportant regulatorSignificant hypermethylationHematopoietic cellsMethylationAneuploidy as a promoter and suppressor of malignant growth
Vasudevan A, Schukken KM, Sausville EL, Girish V, Adebambo OA, Sheltzer JM. Aneuploidy as a promoter and suppressor of malignant growth. Nature Reviews Cancer 2021, 21: 89-103. PMID: 33432169, DOI: 10.1038/s41568-020-00321-1.Peer-Reviewed Original ResearchThe validity of a measure of adjustment in siblings of children with developmental and physical disabilities: a brief report
Orm S, Vatne T, Haukeland YB, Silverman WK, Fjermestad K. The validity of a measure of adjustment in siblings of children with developmental and physical disabilities: a brief report. Developmental Neurorehabilitation 2021, 24: 355-358. PMID: 33393399, DOI: 10.1080/17518423.2020.1869338.Peer-Reviewed Original ResearchConceptsSiblings of childrenConvergent validityMental health measuresMental health difficultiesHealth measuresHealth difficultiesPhysical disabilityOne-factor structureSignificant correlationDisabilityChildrenFactor structureSiblingsAdjustment ScaleSiblings' adjustmentBrief reportAdjustmentMeasures of adjustment
2020
Morbidity and mortality from adenotonsillectomy in children with trisomy 21
Cottrell J, Zahr S, Propst E, Narang I, Amin R, Chiang J, Al-Saleh S, Wolter N. Morbidity and mortality from adenotonsillectomy in children with trisomy 21. International Journal Of Pediatric Otorhinolaryngology 2020, 138: 110377. PMID: 33152968, DOI: 10.1016/j.ijporl.2020.110377.Peer-Reviewed Original ResearchConceptsTrisomy 21ASA score >2Single-center retrospective chart reviewPost-operative complication ratePost-operative respiratory complicationsPreoperative ICU admissionPoor oral intakeSleep-disordered breathingPost-operative complicationsRetrospective chart reviewProlonged hospital stayBenefits of surgeryMortality risk factorsSevere OSADisordered breathingPostoperative morbidityIntraoperative complicationsReoperation rateTreatment failureComplication rateRespiratory complicationsEvaluate morbidityOral intakeChart reviewHospital stayVowel Acoustics and Speech Intelligibility in Young Adults With Down Syndrome.
Carl M, Kent R, Levy E, Whalen D. Vowel Acoustics and Speech Intelligibility in Young Adults With Down Syndrome. Journal Of Speech Language And Hearing Research 2020, 63: 674-687. PMID: 32160481, DOI: 10.1044/2019_jslhr-19-00204.Peer-Reviewed Original ResearchConceptsCorner vowelsVowel productionSingle-word productionSpeech production deficitsAcoustic measurementsIntelligence scoresYoung adultsSpeech intelligibilityDown syndromeLow vowelsVowel centralizationEnglish wordsFormant dataVowel acousticsProduction deficitsVowelsAdult listenersSpeech impairmentSpeech intelligibility scoresAcoustic findingsSpeakersReduced intelligibilitySpeechTD controlsMethod Participants
2019
Inherited genetic susceptibility to acute lymphoblastic leukemia in Down syndrome
Brown AL, de Smith AJ, Gant VU, Yang W, Scheurer ME, Walsh KM, Chernus JM, Kallsen NA, Peyton SA, Davies GE, Ehli EA, Winick N, Heerema NA, Carroll AJ, Borowitz MJ, Wood BL, Carroll WL, Raetz EA, Feingold E, Devidas M, Barcellos LF, Hansen HM, Morimoto L, Kang AY, Smirnov I, Healy J, Laverdière C, Sinnett D, Taub JW, Birch JM, Thompson P, Spector LG, Pombo-de-Oliveira MS, DeWan AT, Mullighan CG, Hunger SP, Pui CH, Loh ML, Zwick ME, Metayer C, Ma X, Mueller BA, Sherman SL, Wiemels JL, Relling MV, Yang JJ, Lupo PJ, Rabin KR. Inherited genetic susceptibility to acute lymphoblastic leukemia in Down syndrome. Blood 2019, 134: 1227-1237. PMID: 31350265, PMCID: PMC6788009, DOI: 10.1182/blood.2018890764.Peer-Reviewed Original ResearchMeSH KeywordsChildCyclin-Dependent Kinase Inhibitor p16DNA-Binding ProteinsDown SyndromeGATA3 Transcription FactorGene FrequencyGenetic Predisposition to DiseaseGenome-Wide Association StudyHumansIkaros Transcription FactorPolymorphism, Single NucleotidePrecursor Cell Lymphoblastic Leukemia-LymphomaTranscription FactorsConceptsFirst genome-wide association studySusceptibility lociGenome-wide association studiesGenome-wide significanceFurther biological insightsGenetic variationEnhancer activityRisk lociBiological insightsLymphoblastoid cell linesAssociation studiesDifferential protein bindingFunctional significanceLociRisk allele frequenciesCell linesAllele frequenciesHigh penetranceRisk allelesProtein bindingCDKN2AGenetic susceptibilityHigher proliferationPenetranceAllele associationsDynamic sustained attention markers differentiate atypical development: The case of Williams syndrome and Down's syndrome
Shalev N, Steele A, Nobre A, Karmiloff-Smith A, Cornish K, Scerif G. Dynamic sustained attention markers differentiate atypical development: The case of Williams syndrome and Down's syndrome. Neuropsychologia 2019, 132: 107148. PMID: 31323245, PMCID: PMC6891877, DOI: 10.1016/j.neuropsychologia.2019.107148.Peer-Reviewed Original ResearchConceptsSustained attentionWilliams syndromeDown syndromeContinuous performance taskImpaired sustained attentionAttention deficit symptomsMeasure sustained attentionSpecificity to changesAtypical developmentDeficit symptomsBehavioral disordersPerformance tasksAttention markerPoor functional outcomeCase of Williams syndromePoor performanceInvestigate similaritiesChildrenTaskAttentionDisordersFunctional outcomesDownElements of performanceSymptomsHeritable variation at the chromosome 21 gene ERG is associated with acute lymphoblastic leukemia risk in children with and without Down syndrome
de Smith AJ, Walsh KM, Morimoto LM, Francis SS, Hansen HM, Jeon S, Gonseth S, Chen M, Sun H, Luna-Fineman S, Antillón F, Girón V, Kang AY, Smirnov I, Shao X, Whitehead TP, Barcellos LF, Jolly KW, Healy J, Laverdière C, Sinnett D, Taub JW, Birch JM, Thompson PD, Pombo-de-Oliveira MS, Spector LG, DeWan AT, Mueller BA, Chiang C, Metayer C, Ma X, Wiemels JL. Heritable variation at the chromosome 21 gene ERG is associated with acute lymphoblastic leukemia risk in children with and without Down syndrome. Leukemia 2019, 33: 2746-2751. PMID: 31296947, PMCID: PMC6858994, DOI: 10.1038/s41375-019-0514-9.Peer-Reviewed Original ResearchMeSH KeywordsAdolescentCaliforniaCase-Control StudiesChildChild, PreschoolChromosomes, Human, Pair 21Down SyndromeFemaleGenetic Predisposition to DiseaseGenome-Wide Association StudyGuatemalaHaplotypesHispanic or LatinoHumansInfantInfant, NewbornMalePolymorphism, Single NucleotidePrecursor Cell Lymphoblastic Leukemia-LymphomaPrincipal Component AnalysisRisk FactorsTranscriptional Regulator ERG
2018
Immunotherapy in selected patients with Down syndrome disintegrative disorder
Cardinale KM, Bocharnikov A, Hart SJ, Baker JA, Eckstein C, Jasien JM, Gallentine W, Worley G, Kishnani PS, Van Mater H. Immunotherapy in selected patients with Down syndrome disintegrative disorder. Developmental Medicine & Child Neurology 2018, 61: 847-851. PMID: 30548468, DOI: 10.1111/dmcn.14127.Peer-Reviewed Original ResearchConceptsCognitive declineDisintegrative disorderDown syndromeHistory of autoimmunitySmall case seriesAutoimmune thyroid diseaseSymptoms of catatoniaAdditional immunotherapyIntravenous immunoglobulinCase seriesMedical recordsThyroid diseaseImmunotherapyPAPER ADDSPatientsCatatoniaInsomniaCore symptomsPsychosisAutistic featuresYoung adultsSymptomsAutoimmunityDisordersSyndromeGenetic Basis for Congenital Heart Disease: Revisited: A Scientific Statement From the American Heart Association
Pierpont ME, Brueckner M, Chung WK, Garg V, Lacro RV, McGuire AL, Mital S, Priest JR, Pu WT, Roberts A, Ware SM, Gelb BD, Russell MW, Medicine O. Genetic Basis for Congenital Heart Disease: Revisited: A Scientific Statement From the American Heart Association. Circulation 2018, 138: 1. PMID: 30571578, PMCID: PMC6555769, DOI: 10.1161/cir.0000000000000606.Peer-Reviewed Original ResearchCombining acetabular and femoral morphology improves our understanding of the down syndrome hip
Bakouny Z, Assi A, Yared F, Khalil N, Mansour E, Yaacoub J, Skalli W, Ghanem I. Combining acetabular and femoral morphology improves our understanding of the down syndrome hip. Clinical Biomechanics 2018, 58: 96-102. PMID: 30064043, DOI: 10.1016/j.clinbiomech.2018.07.016.Peer-Reviewed Original ResearchConceptsAcetabular sector angleDown's syndrome subjectsDown syndrome compared to controlsSyndrome subjectsThree-dimensional anatomyDown syndromeAnterior acetabular sector angleHip instabilityPosterior acetabular sector angleStanding positionAsymptomatic controlsHip alterationsControl subjectsTreatment strategiesHeterogeneous anatomySyndromeFull-body biplanar X-raysPatientsAnatomyHipLower limbsAcetabular anatomySubjects
This site is protected by hCaptcha and its Privacy Policy and Terms of Service apply