2024
Non-ceruloplasmin copper and urinary copper in clinically stable Wilson disease: Alignment with recommended targets
Ott P, Sandahl T, Ala A, Cassiman D, Couchonnal-Bedoya E, Cury R, Czlonkowska A, Denk G, D’Inca R, de Assis Aquino Gondim F, Moore J, Poujois A, Twardowschy C, Weiss K, Zuin M, Kamlin C, Schilsky M. Non-ceruloplasmin copper and urinary copper in clinically stable Wilson disease: Alignment with recommended targets. JHEP Reports 2024, 6: 101115. PMID: 39139457, PMCID: PMC11321293, DOI: 10.1016/j.jhepr.2024.101115.Peer-Reviewed Original ResearchNon-ceruloplasmin-bound copperUrinary copper excretionD-penicillamine therapyRecommended target rangeWD patientsWilson's diseaseSigns of copper deficiencyD-penicillamineBiochemical signsCopper excretionTarget rangeClinically stable diseaseTreatment of WDTreatment of patientsAnalysis of liver enzymesCopper deficiencyStable diseaseMaintenance therapyScreening visitUrinary copperTreated WDHealthy controlsNormal rangeProtein speciationRecommended targetsA common cis-regulatory variant impacts normal-range and disease-associated human facial shape through regulation of PKDCC during chondrogenesis
Mohammed J, Arora N, Matthews H, Hansen K, Bader M, Walsh S, Shaffer J, Weinberg S, Swigut T, Claes P, Selleri L, Wysocka J. A common cis-regulatory variant impacts normal-range and disease-associated human facial shape through regulation of PKDCC during chondrogenesis. ELife 2024, 13: e82564. PMID: 38483448, PMCID: PMC10939500, DOI: 10.7554/elife.82564.Peer-Reviewed Original ResearchConceptsGenome-wide association studiesSingle nucleotide polymorphismsGenome-wide association study studiesDisease predispositionComplex morphological traitsEmbryonic cell typesSkull elementsCognate enhancersAssociation studiesAssociated with quantitative changesPhenotypic traitsPhenotypic variationMorphological traitsJaw shapeNucleotide polymorphismsGenetic variantsMorphological variationTyrosine kinaseCell typesNormal rangeRisk of non-syndromic orofacial cleftsFacial morphogenesisNon-syndromic orofacial cleftsHuman populationSkeletal development
2023
Assessing the Hepatic Safety of Epigallocatechin Gallate (EGCG) in Reproductive-Aged Women
Siblini H, Al-Hendy A, Segars J, González F, Taylor H, Singh B, Flaminia A, Flores V, Christman G, Huang H, Johnson J, Zhang H. Assessing the Hepatic Safety of Epigallocatechin Gallate (EGCG) in Reproductive-Aged Women. Nutrients 2023, 15: 320. PMID: 36678191, PMCID: PMC9861948, DOI: 10.3390/nu15020320.Peer-Reviewed Original ResearchConceptsReproductive-aged womenLiver function testsUterine fibroidsUnexplained infertilityClomiphene citrateSerum liver function testsEpigallocatechin gallateSigns of drugSerum folate levelsGreen tea catechinsHepatic safetyPremenopausal womenProspective cohortDaily doseLiver injuryFunction testsTreatment armsLiver toxicityClinical studiesCommon causeFolate levelsEarly safety assessmentInterim analysisNormal rangeUse of EGCG
2022
OR13-1 Long-Term Burosumab Therapy Provides Sustained Benefit in Patients with Tumor-Induced Osteomalacia: End of Study Findings From the Pivotal Phase 2 Study
Carpenter T, Cimms T, Hetzer J, Insogna K, Kumar R, Merritt J, Miller P, Peacock M, Rauch F, Stanciu I, Weber T, De Beur S. OR13-1 Long-Term Burosumab Therapy Provides Sustained Benefit in Patients with Tumor-Induced Osteomalacia: End of Study Findings From the Pivotal Phase 2 Study. Journal Of The Endocrine Society 2022, 6: a191-a191. PMCID: PMC9624705, DOI: 10.1210/jendso/bvac150.394.Peer-Reviewed Original ResearchTumor-induced osteomalaciaWeek 240Week 144Week 24Serum phosphorusBurosumab therapyWeek 48Bone biomarkersSafety profileNormal rangeExcess fibroblast growth factor 23SF-36 bodily pain scoresTreatment of TIOPivotal phase 2 studySF-36 physical healthSF-36 vitality scoreFibroblast growth factor 23Surface/bone surfaceBodily pain scoresMean serum phosphorusObserved safety profileRadionucleotide bone scansRare paraneoplastic syndromeBrief Pain InventoryOsteoid surface/bone surfaceLong-term Burosumab Administration Is Safe and Effective in Adults With X-linked Hypophosphatemia
Weber TJ, Imel EA, Carpenter TO, Peacock M, Portale AA, Hetzer J, Merritt JL, Insogna K. Long-term Burosumab Administration Is Safe and Effective in Adults With X-linked Hypophosphatemia. The Journal Of Clinical Endocrinology & Metabolism 2022, 108: 155-165. PMID: 36072994, PMCID: PMC9759172, DOI: 10.1210/clinem/dgac518.Peer-Reviewed Original ResearchConceptsSerum phosphate levelsPatient-reported outcomesNormal rangeBurosumab therapyTreatment optionsEffective long-term treatment optionLong-term extension studyLong-term treatment optionNew safety findingsBone turnover markersLong-term administrationPhosphate levelsRespective normal rangesProportion of subjectsLong-term safetyLast doseAdult patientsClinical responseSafety findingsTurnover markersSerum phosphateBone biomarkersStudy endWeek 12Burosumab treatmentRacial/Ethnic Variation in White Matter Hyperintensity Progression in the ACCORDION MIND Study
Herman AL, de Havenon A, Falcone GJ, Prabhakaran S, Sheth KN. Racial/Ethnic Variation in White Matter Hyperintensity Progression in the ACCORDION MIND Study. The Neurologist 2022, 28: 157-159. PMID: 35834785, DOI: 10.1097/nrl.0000000000000454.Peer-Reviewed Original ResearchConceptsWMH progressionWhite matter hyperintensitiesLow-density lipoproteinCardiovascular riskWhite patientsBlack patientsWMH volumeSystolic blood pressure levelsWhite matter hyperintensity progressionBlack diabetic patientsBlood pressure levelsExclusion of patientsMagnetic resonance imagingDiabetes (ACCORD) trialDiabetic patientsMean SBPPrimary outcomePatient raceMultivariate regression modelMatter hyperintensitiesA1c measurementHigh riskPatientsNormal rangeCognitive decline0321 Poor Agreement Among Self-Reported and Objective Sleep Deficiency Assessments in Older Persons
Miner B, Yaggi H, Gill T, Doyle M, Stone K, Redline S, Ensrud K, Blackwell T, Knauert M. 0321 Poor Agreement Among Self-Reported and Objective Sleep Deficiency Assessments in Older Persons. Sleep 2022, 45: a144-a145. DOI: 10.1093/sleep/zsac079.319.Peer-Reviewed Original ResearchInsufficient sleep durationSleep QuestionnaireSleep deficiencySleep durationAttention/alertnessOsteoporotic fracturesClaude D. Pepper Older Americans Independence CenterOlder personsNormal scoresSleep-disordered breathingAge-related decreaseAtypical presentationAverage ageNormal rangeSymptom awarenessOlder menSleep deficitsAmerican AcademySecondary analysisYoung populationSubstantial proportionNational InstituteWomenMenPoor sensitivityFrequency of QTc Interval Prolongation in Children and Adults with Williams Syndrome
Brink BD, Feinn R, Kozel BA, Billington CJ, Liu D, Yu E, Sindhar S, He J, Rouse C, Lampert R, Pober BR, Elder RW. Frequency of QTc Interval Prolongation in Children and Adults with Williams Syndrome. Pediatric Cardiology 2022, 43: 1559-1567. PMID: 35366065, DOI: 10.1007/s00246-022-02883-3.Peer-Reviewed Original ResearchConceptsSudden cardiac deathHeart rateBazett's formulaCardiac deathWilliams syndromeRetrospective chart reviewQTc interval prolongationBundle branch blockMean heart rateHigher heart rateChart reviewQTc prolongationInterval prolongationSinus rhythmBranch blockGeneral populationNormal rangePatientsQTcWS patientsQTcBEKGProlongationSyndromePotential causes
2021
Consensus report: definition and interpretation of remission in type 2 diabetes
Riddle M, Cefalu W, Evans P, Gerstein H, Nauck M, Oh W, Rothberg A, le Roux C, Rubino F, Schauer P, Taylor R, Twenefour D. Consensus report: definition and interpretation of remission in type 2 diabetes. Diabetologia 2021, 64: 2359-2366. PMID: 34458934, DOI: 10.1007/s00125-021-05542-z.Peer-Reviewed Original ResearchConceptsOutcome of remissionImprovement of glucose levelsAmerican Diabetes AssociationType 2 diabetesLong-term riskInternational expert groupUnmet needsDiabetes AssociationMedical interventionsClinical guidanceObjective measuresDiagnostic criteriaSustained improvementRemissionPharmacotherapyNormal rangeData collectionExpert groupGlucose levelsObservations of individualsDescriptive termsInterventionConsensus report: Definition and interpretation of remission in type 2 diabetes
Riddle M, Cefalu W, Evans P, Gerstein H, Nauck M, Oh W, Rothberg A, le Roux C, Rubino F, Schauer P, Taylor R, Twenefour D. Consensus report: Definition and interpretation of remission in type 2 diabetes. Diabetic Medicine 2021, 39: e14669. PMID: 34460965, DOI: 10.1111/dme.14669.Peer-Reviewed Original ResearchConceptsOutcome of remissionImprovement of glucose levelsAmerican Diabetes AssociationType 2 diabetesLong-term riskInternational expert groupUnmet needsDiabetes AssociationMedical interventionsClinical guidanceObjective measuresDiagnostic criteriaSustained improvementHbA1c <PharmacotherapyNormal rangeRemissionData collectionExpert groupGlucose levelsObservations of individualsDescriptive termsInterventionConsensus Report: Definition and Interpretation of Remission in Type 2 Diabetes
Riddle M, Cefalu W, Evans P, Gerstein H, Nauck M, Oh W, Rothberg A, le Roux C, Rubino F, Schauer P, Taylor R, Twenefour D. Consensus Report: Definition and Interpretation of Remission in Type 2 Diabetes. The Journal Of Clinical Endocrinology & Metabolism 2021, 107: 1-9. PMID: 34459898, PMCID: PMC8825709, DOI: 10.1210/clinem/dgab585.Peer-Reviewed Original ResearchConceptsOutcome of remissionImprovement of glucose levelsAmerican Diabetes AssociationType 2 diabetesLong-term riskInternational expert groupUnmet needsDiabetes AssociationMedical interventionsClinical guidanceObjective measuresDiagnostic criteriaSustained improvementPharmacotherapyNormal rangeRemissionData collectionExpert groupGlucose levelsObservations of individualsDescriptive termsInterventionConsensus Report: Definition and Interpretation of Remission in Type 2 Diabetes
Riddle M, Cefalu W, Evans P, Gerstein H, Nauck M, Oh W, Rothberg A, le Roux C, Rubino F, Schauer P, Taylor R, Twenefour D. Consensus Report: Definition and Interpretation of Remission in Type 2 Diabetes. Diabetes Care 2021, 44: 2438-2444. PMID: 34462270, PMCID: PMC8929179, DOI: 10.2337/dci21-0034.Peer-Reviewed Original ResearchOutcome of remissionImprovement of glucose levelsAmerican Diabetes AssociationType 2 diabetesLong-term riskInternational expert groupUnmet needsDiabetes AssociationMedical interventionsClinical guidanceObjective measuresDiagnostic criteriaSustained improvementHbA1c <PharmacotherapyNormal rangeRemissionData collectionExpert groupGlucose levelsObservations of individualsDescriptive termsInterventionThe relationship of plasma antioxidant levels to semen parameters: the Males, Antioxidants, and Infertility (MOXI) randomized clinical trial
Knudtson JF, Sun F, Coward RM, Hansen KR, Barnhart KT, Smith J, Legro RS, Diamond MP, Krawetz SA, Zhang H, Usadi R, Baker VL, Santoro N, Steiner AZ. The relationship of plasma antioxidant levels to semen parameters: the Males, Antioxidants, and Infertility (MOXI) randomized clinical trial. Journal Of Assisted Reproduction And Genetics 2021, 38: 3005-3013. PMID: 34455507, PMCID: PMC8609082, DOI: 10.1007/s10815-021-02301-2.Peer-Reviewed Original ResearchConceptsPlasma antioxidant levelsLive birthsClinical trialsSemen parametersAntioxidant levelsVitamin ERank sum testSecondary analysisClinical outcomesNormal rangeBaseline plasma valuesVitamin E levelsWilcoxon rank sum testMale fertilityConclusionsAmong menPrimary endpointDNA fragmentationResultsAt baselineSerum levelsFertility centerE levelsMethodsThis studyMale infertilityFertility outcomesPlasma valuesCoagulopathy, Bleeding Events, and Outcome According to Rotational Thromboelastometry in Patients With Acute Liver Injury/Failure
Stravitz RT, Fontana RJ, Meinzer C, Durkalski‐Mauldin V, Hanje AJ, Olson J, Koch D, Hamid B, Schilsky M, McGuire B, Ganger D, Liou I, Karvellas CJ, Rule JA, Lisman T, Clasen K, Reuben A, Cripps M, Lee WM, Group A. Coagulopathy, Bleeding Events, and Outcome According to Rotational Thromboelastometry in Patients With Acute Liver Injury/Failure. Hepatology 2021, 74: 937-949. PMID: 33636020, PMCID: PMC10668528, DOI: 10.1002/hep.31767.Peer-Reviewed Original ResearchConceptsALI/ALFROTEM parametersRotational thromboelastometryDisease severityAcute liver injury/failureAbnormal hemostatic profileSevere systemic complicationsAcute liver injuryBleeding eventsBleeding riskLiver transplantationSystemic complicationsHemostatic failureLiver injuryIllness severityNative liverAbnormal hemostasisHemostatic profileStudy groupHigh incidencePatientsNormal rangeLaboratory evidenceClot formationClot stabilityBlinded review of hippocampal neuropathology in sudden unexplained death in childhood reveals inconsistent observations and similarities to explained paediatric deaths
Leitner DF, McGuone D, William C, Faustin A, Askenazi M, Snuderl M, Guzzetta M, Jarrell HS, Maloney K, Reichard R, Smith C, Weedn V, Wisniewski T, Gould L, Devinsky O. Blinded review of hippocampal neuropathology in sudden unexplained death in childhood reveals inconsistent observations and similarities to explained paediatric deaths. Neuropathology And Applied Neurobiology 2021, 48: e12746. PMID: 34164845, PMCID: PMC8777468, DOI: 10.1111/nan.12746.Peer-Reviewed Original ResearchConceptsCause of deathSudden unexplained deathHippocampal findingsUnexplained deathBlinded reviewersFebrile seizure historyGranule cell lossForensic pathologistsBoard-certified forensic pathologistsHippocampal histologyHippocampal maldevelopmentFebrile seizuresHippocampal neuropathologyHippocampal sectionsPyramidal neuronsSeizure historyPediatric deathsChildhood casesSudden deathImmunohistological markersBlinded reviewNormal rangeCell lossLarger studySUDCNeuromotor Speech Recovery Across Different Behavioral Speech Modifications in Individuals Following Facial Transplantation
Eshghi M, Perry B, Richburg B, Ventresca H, Pomahac B, Green J. Neuromotor Speech Recovery Across Different Behavioral Speech Modifications in Individuals Following Facial Transplantation. Frontiers In Neurology 2021, 11: 593153. PMID: 33488496, PMCID: PMC7815523, DOI: 10.3389/fneur.2020.593153.Peer-Reviewed Original ResearchSpeech modificationsSpeech clarityArticulatory demandsLoud speechMotor systemSpeech-language pathologistsArticulatory stabilityArticulatory mechanismsSpeech intelligibilityEvidence-based practice approachCompensatory strategiesDysarthric speechSlow speechFacial transplantationSpeech recoverySpeech deficitsLanguage pathologistsNeuromotor recoveryNormal rangeExtent individualsStages of recoverySpeechFacial animationFace transplantationSpeech function
2020
Etranacogene Dezaparvovec (AAV5-Padua hFIX variant), an Enhanced Vector for Gene Transfer in Adults with Severe or Moderate-Severe Hemophilia B: Two Year Data from a Phase 2b Trial
von Drygalski A, Giermasz A, Castaman G, Key N, Lattimore S, Leebeek F, Miesbach W, Recht M, Gomez E, Gut R, Pipe S. Etranacogene Dezaparvovec (AAV5-Padua hFIX variant), an Enhanced Vector for Gene Transfer in Adults with Severe or Moderate-Severe Hemophilia B: Two Year Data from a Phase 2b Trial. Blood 2020, 136: 13. DOI: 10.1182/blood-2020-139295.Peer-Reviewed Original ResearchEntity's Board of DirectorsEtranacogene dezaparvovecInvestigational gene therapyLiver-specific promoterAMT-061Gene therapyHemophilia BCSL BehringAdverse eventsNormal rangeWeek 6FIX activity levelsRecords of bleedingYears of follow-upPhase 2b trialAmeliorate disease severityYears of follow-up dataWeeks post-dosingFollow-up dataMulti-center trialNational Hemophilia FoundationAdvisory CommitteeHemophilia B subjectsSustained FIX activityFixing activityLow serum trypsinogen levels in chronic pancreatitis: Correlation with parenchymal loss, exocrine pancreatic insufficiency, and diabetes but not CT-based cambridge severity scores for fibrosis
Zhan W, Akshintala V, Greer PJ, Greer JB, Alkaade S, Anderson MA, Muniraj T, Papachristou GI, Sandhu BS, Slivka A, Wilcox CM, Bellin MD, Singh VK, Yadav D, Brand RE, Whitcomb DC, Group F. Low serum trypsinogen levels in chronic pancreatitis: Correlation with parenchymal loss, exocrine pancreatic insufficiency, and diabetes but not CT-based cambridge severity scores for fibrosis. Pancreatology 2020, 20: 1368-1378. PMID: 32967795, DOI: 10.1016/j.pan.2020.08.025.Peer-Reviewed Original ResearchConceptsSerum trypsinogen levelsChronic pancreatitisTrypsinogen levelsAcinar cell functionCP patientsParenchymal lossCell functionComplex inflammatory disorderExocrine pancreatic insufficiencyCT-based criteriaNAPS2 studySerum trypsinogenAcinar cell lossSurgical resectionFinal cohortInflammatory cellsInflammatory disordersControl subjectsSeverity scoreClinical managementPancreatic insufficiencyStellate cellsNormal rangeCell lossIslet cellsComparative Effectiveness of Generic vs Brand-Name Levothyroxine in Achieving Normal Thyrotropin Levels
Brito JP, Ross JS, Sangaralingham L, Dutcher SK, Graham DJ, Wang Z, Wu Y, Yao X, Smallridge RC, Bernet V, Shah ND, Lipska KJ. Comparative Effectiveness of Generic vs Brand-Name Levothyroxine in Achieving Normal Thyrotropin Levels. JAMA Network Open 2020, 3: e2017645. PMID: 32997127, PMCID: PMC7527873, DOI: 10.1001/jamanetworkopen.2020.17645.Peer-Reviewed Original ResearchConceptsNormal thyrotropin levelsPropensity score-matched patientsThyrotropin levelsLevothyroxine prescriptionsThyrotropin valuesProportion of patientsAdministrative claims databaseMonths of initiationMIU/LMild thyroid dysfunctionLongitudinal cohort studyMedicare Advantage enrolleesNormal thyrotropin valuesEligible patientsInitial therapyLevothyroxine formulationsCohort studyThyroid dysfunctionClaims databaseGeneric levothyroxineLevothyroxineMAIN OUTCOMENormal rangePatientsNormal vs
2019
Transcranial Doppler Screening in Children with Sickle Cell Anemia Is Feasible in Central India and Reveals High Risk of Stroke
Jain D, Ganesan K, Sahota S, Darbari D, Krishnamurti L, Kirkham F. Transcranial Doppler Screening in Children with Sickle Cell Anemia Is Feasible in Central India and Reveals High Risk of Stroke. Blood 2019, 134: 2279. DOI: 10.1182/blood-2019-131416.Peer-Reviewed Original ResearchWhite blood cell countBody mass indexMean corpuscular volumeSickle cell anemiaPosterior cerebral arteryTranscranial DopplerHeight/weightNormal rangeCerebral arteryHigh riskNon-tribal populationCell anemiaHomozygous sickle cell anemiaIntracranial blood flow velocityTranscranial Doppler screeningAnterior cerebral arteryTertiary care centerRisk of strokeBlood cell countCross-sectional studyBlood flow velocityQuarter of childrenTerms of ageDepartment of RadiologyAdvisory board meetings
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