2023
Neuropathology of New-Onset Refractory Status Epilepticus (NORSE)
Hanin A, Cespedes J, Huttner A, Strelnikov D, Gopaul M, DiStasio M, Vezzani A, Hirsch L, Aronica E. Neuropathology of New-Onset Refractory Status Epilepticus (NORSE). Journal Of Neurology 2023, 270: 3688-3702. PMID: 37079033, DOI: 10.1007/s00415-023-11726-x.Peer-Reviewed Original ResearchConceptsNew-onset refractory status epilepticusCryptogenic new-onset refractory status epilepticusRefractory status epilepticusNeuropathology findingsStatus epilepticusSecondary neuronal injuryCryptogenic casesFebrile illnessNeuronal injuryExtensive workupNeuropathological evaluationEpilepsy surgeryPathophysiological mechanismsUnknown causePatient managementLong-term consequencesSevere formSpecific treatmentEpilepticusTissue samplesBiopsyPatientsFindings of studiesAutopsiesFindings
2022
Familial Recurrence Patterns in Congenitally Corrected Transposition of the Great Arteries: An International Study
Tortigue M, Nield LE, Karakachoff M, McLeod CJ, Belli E, Babu-Narayan SV, Prigent S, Boet A, Conway M, Elder RW, Ladouceur M, Khairy P, Kowalik E, Kalfa DM, Barron DJ, Mussa S, Hiippala A, Temple J, Abadir S, Le Gloan L, Lachaud M, Sanatani S, Thambo JB, Gronier CG, Amedro P, Vaksmann G, Charbonneau A, Koutbi L, Ovaert C, Houeijeh A, Combes N, Maury P, Duthoit G, Hiel B, Erickson CC, Bonnet C, Van Hare GF, Dina C, Karsenty C, Fournier E, Le Bloa M, Pass RH, Liberman L, Happonen JM, Perry JC, Romefort B, Benbrik N, Hauet Q, Fraisse A, Gatzoulis MA, Abrams DJ, Dubin AM, Ho SY, Redon R, Bacha EA, Schott JJ, Baruteau AE. Familial Recurrence Patterns in Congenitally Corrected Transposition of the Great Arteries: An International Study. Circulation Genomic And Precision Medicine 2022, 15: e003464. PMID: 35549293, DOI: 10.1161/circgen.121.003464.Peer-Reviewed Original ResearchConceptsPrimary ciliary dyskinesiaGreat arteriesCongenital heart defectsCiliary dyskinesiaRecurrence patternsFamilial clustersHeart defectsRetrospective cohort studyCommon pathogenetic pathwayCongenitally Corrected TranspositionFirst-degree relativesLaterality defectsCohort studyAtrioventricular blockTertiary hospitalHeterotaxy syndromeCorrected TranspositionPathogenetic pathwaysUnknown causeCcTGARare diseaseArteryParental consanguinityDyskinesiaFamilial aggregation
2021
Genetic alterations and pathways in patients with Hereditary Angioedema of Unknown Cause (U-HAE)
KAYMAKCALAN H, Hande A, CAGLAYAN A, GULBAHAR O, GOKMEN E, NIKEREL E. Genetic alterations and pathways in patients with Hereditary Angioedema of Unknown Cause (U-HAE). Marmara Medical Journal 2021, 34: 274-278. DOI: 10.5472/marumj.1009115.Peer-Reviewed Original ResearchWhole-exome sequencingExome sequencingHereditary angioedemaU-HAEGenetic alterationsDownstream functional analysisMyoF geneNormal C1 inhibitorControl groupBlood coagulation pathwayGenesFunctional analysisNo significant differenceRare diseasePathwayC1 inhibitorMutationsPatientsUnknown causeCoagulation pathwaySequenceSignificant differenceAngioedemaVariantsC1QBP
2020
Collagenofibrotic glomerulopathy in a kidney transplant recipient: A first report
Jdiaa SS, Moeckel GW, Kfoury H, Medawar WA, Abu-Alfa A. Collagenofibrotic glomerulopathy in a kidney transplant recipient: A first report. American Journal Of Transplantation 2020, 21: 1948-1952. PMID: 33206467, DOI: 10.1111/ajt.16399.Peer-Reviewed Case Reports and Technical NotesConceptsKidney transplant recipientsCollagenofibrotic glomerulopathyTransplant recipientsRenal dysfunctionType 3 fibresProgressive diseaseKidney diseaseDefinitive diagnosisUnknown causeRare diseaseDiseaseFirst caseRecipientsFirst reportHematuriaProteinuriaGlomerulopathyPatientsDysfunctionGlomeruliDiagnosisProgression
2019
Examining Mortality to Identify Opportunities for Improved Care Among Adults with HIV in a Single Academic Medical Center
Ressler AM, Abdo M, MaWhinney S, Johnson SC, Erlandson KM. Examining Mortality to Identify Opportunities for Improved Care Among Adults with HIV in a Single Academic Medical Center. AIDS Research And Human Retroviruses 2019, 35: 1082-1088. PMID: 31432692, PMCID: PMC6862946, DOI: 10.1089/aid.2019.0154.Peer-Reviewed Original ResearchConceptsSingle academic medical centerProportion of deathsAcademic medical centerMedical CenterElectronic medical record queryNon-AIDS malignanciesMedical record queryProportion of AIDSAvailable medical recordsCause of deathColon cancer screeningPrevention of malignancyAIDS malignanciesEligible patientsHIV causesCardiac causesComorbid illnessesChart reviewPatient ageCancer screeningMedical recordsUnknown causeLaboratory valuesProvider surveyCoding Causes
2017
Outcomes of Solid Organ Transplants After Simultaneous Solid Organ and Vascularized Composite Allograft Procurements
Aycart M, Alhefzi M, Sharma G, Krezdorn N, Bueno E, Talbot S, Carty M, Tullius S, Pomahac B. Outcomes of Solid Organ Transplants After Simultaneous Solid Organ and Vascularized Composite Allograft Procurements. Transplantation 2017, 101: 1381-1386. PMID: 27140518, PMCID: PMC6347371, DOI: 10.1097/tp.0000000000001262.Peer-Reviewed Original ResearchMeSH KeywordsAdultComposite Tissue AllograftsFacial TransplantationFemaleGraft SurvivalHumansMaleMiddle AgedOperative TimeOrgan TransplantationPostoperative ComplicationsRegistriesRetrospective StudiesRisk AssessmentRisk FactorsTime FactorsTissue and Organ HarvestingTissue DonorsTreatment OutcomeUnited StatesYoung AdultConceptsGraft survival ratesSolid organsSurvival rateLiver recipientsTransplant recipientsAllograft procurementSolid organ allograftsSolid organ transplantsBrain-dead donorsLong-term outcomesShort-term resultsHeart recipientsIntraoperative parametersDonor surgeryOperative durationOrgan allograftsPostoperative outcomesScientific RegistryTransplantation outcomesPopulation of subjectsCase reportOperative characteristicsUnknown causeNationwide analysisOrgan transplantsMetastatic thyroid carcinoma without identifiable primary tumor within the thyroid gland: a retrospective study of a rare phenomenon
Xu B, Scognamiglio T, Cohen PR, Prasad ML, Hasanovic A, Tuttle RM, Katabi N, Ghossein RA. Metastatic thyroid carcinoma without identifiable primary tumor within the thyroid gland: a retrospective study of a rare phenomenon. Human Pathology 2017, 65: 133-139. PMID: 28552827, PMCID: PMC5571865, DOI: 10.1016/j.humpath.2017.05.013.Peer-Reviewed Original ResearchMeSH KeywordsAdultAgedBiomarkers, TumorCarcinomaCarcinoma, PapillaryCell DifferentiationDNA Mutational AnalysisFemaleGenetic Predisposition to DiseaseHumansImmunohistochemistryLymphatic MetastasisMaleMiddle AgedMutationNeoplasm GradingNeoplasms, Unknown PrimaryPhenotypeProto-Oncogene Proteins B-rafRetrospective StudiesThyroid Cancer, PapillaryThyroid Carcinoma, AnaplasticThyroid NeoplasmsConceptsPapillary thyroid carcinomaIdentifiable primary tumorThyroid carcinomaAnaplastic thyroid carcinomaMetastatic diseasePrimary tumorThyroid glandMetastatic papillary thyroid carcinomaEvidence of recurrenceMetastatic nodal diseaseMetastatic thyroid carcinomaTall cell variantBRAF V600E immunohistochemistryThyroid primaryNodal diseaseNeck compartmentDistant metastasisPathologic featuresRetrospective studyAnaplastic carcinomaUnknown causeMost tumorsCarcinomaPatientsThyroid tumors
2015
Outcomes of transcatheter aortic valve replacement in patients with chronic liver disease
Shah AM, Ogbara J, Herrmann HC, Fox Z, Kadakia M, Anwaruddin S, Bavaria JE, Desai ND, Jagasia D, Szeto WY, Li RH, Vallabhajosyula P, Giri J. Outcomes of transcatheter aortic valve replacement in patients with chronic liver disease. Catheterization And Cardiovascular Interventions 2015, 86: 888-894. PMID: 25963625, DOI: 10.1002/ccd.25994.Peer-Reviewed Original ResearchMeSH KeywordsAgedAged, 80 and overAortic ValveAortic Valve StenosisBioprosthesisBiopsyCardiac CatheterizationChronic DiseaseFeasibility StudiesFemaleFemoral ArteryHeart Valve ProsthesisHeart Valve Prosthesis ImplantationHospital MortalityHumansLiver DiseasesMaleMiddle AgedPatient SelectionRetrospective StudiesRisk AssessmentRisk FactorsSeverity of Illness IndexTime FactorsTreatment OutcomeConceptsTranscatheter aortic valve replacementChronic liver diseaseValve Academic Research ConsortiumAcute kidney injuryAortic valve replacementLiver diseaseLate deathsKidney injuryValve replacementUnknown causeTransapical (TA) TAVRRole of TAVRTA TAVRSevere symptomatic aortic valve stenosisModerate chronic liver diseaseSymptomatic aortic valve stenosisAdvanced liver diseaseMajor bleeding complicationsNon-cardiac causesOutcomes of patientsTransient ischemic attackAcademic Research ConsortiumHigh-risk surgeryAortic valve stenosisLong-term follow
2013
Predictors of outcome in acute encephalitis
Thakur K, Motta M, Asemota A, Kirsch H, Benavides D, Schneider E, McArthur J, Geocadin R, Venkatesan A. Predictors of outcome in acute encephalitis. Neurology 2013, 81: 793-800. PMID: 23892708, PMCID: PMC3908458, DOI: 10.1212/wnl.0b013e3182a2cc6d.Peer-Reviewed Original ResearchConceptsMultivariate logistic regression analysisPredictors of outcomeStatus epilepticusLogistic regression analysisCerebral edemaHospital dischargePoor outcomeJohns Hopkins Bayview Medical CenterPredictors of deathFurther prospective studiesIntensive care unitJohns Hopkins HospitalRegression analysisIntubation requirementAutoimmune etiologyAcute encephalitisAggressive managementVentilator supportMedian ageCare unitViral encephalitisProspective studyEncephalitis casesUnknown causeRetrospective analysis
2011
Resolution of Long-Standing Necrobiosis Lipoidica Diabeticorum (NLD) Lesion After Restoration of Euglycemia Following Successful Pancreas After Kidney (PAK) Transplantation: A Case Report
Mazur M, Lowney A, Prigoff J, Heilman R, Chakkera H, Moss A, Mulligan D, Reddy K, Hamawi K. Resolution of Long-Standing Necrobiosis Lipoidica Diabeticorum (NLD) Lesion After Restoration of Euglycemia Following Successful Pancreas After Kidney (PAK) Transplantation: A Case Report. Transplantation Proceedings 2011, 43: 3296-3298. PMID: 22099781, DOI: 10.1016/j.transproceed.2011.10.005.Peer-Reviewed Original ResearchConceptsNecrobiosis lipoidica diabeticorumKidney transplantationPancreas transplantationType I diabetic recipientsTight diabetic controlInflammatory skin disorderRestoration of euglycemiaSuccessful pancreasDiabetic controlDiabetes mellitusDiabetic recipientsImmunosuppressive agentsCase reportUnknown causeCase of resolutionConsistent efficacySkin disordersTransplantationEuglycemiaPatientsPancreasTreatmentImmunosuppressionMellitusRegimen
2010
Causes of Ischemic Stroke
Silva G, Koroshetz W, González R, Schwamm L. Causes of Ischemic Stroke. 2010, 25-42. DOI: 10.1007/978-3-642-12751-9_2.Peer-Reviewed Original ResearchIschemic strokeCryptogenic strokeSmall infarctionClinical workupMajor disabilityClinical signsDefinite causeUnknown causeHeterogeneous diseaseLacunar mechanismPathologic processesLarge seriesStrokeOrgan systemsGroups of strokesReporting systemCauseBrainInfarctionIschemiaPatientsMajorityWorkupDiseaseInfluences on place of death in Botswana
Lazenby M, Ma T, Moffat HJ, Funk M, Knobf MT, McCorkle R. Influences on place of death in Botswana. Palliative & Supportive Care 2010, 8: 177-185. PMID: 20307368, DOI: 10.1017/s1478951509990939.Peer-Reviewed Original ResearchMeSH KeywordsAdultAge DistributionAgedAged, 80 and overBotswanaCause of DeathChi-Square DistributionCross-Sectional StudiesDeath CertificatesFemaleHealth Care SurveysHome Care ServicesHome NursingHospital MortalityHumansLogistic ModelsMaleMiddle AgedMultivariate AnalysisOccupationsRegistriesResidence CharacteristicsSex DistributionTerminal CareConceptsPlace of deathCause of deathHome deathHospital deathUnknown causeDeath recordsDeterminants of placeFollowing independent predictorsLogistic regression analysisYears of ageNon-traumatic deathsHIV/AIDSIndependent predictorsMean ageVerbal autopsiesEvaluable samplesCardiovascular diseaseFemale genderLife careDocumentation of causeMultivariate analysisDeathRegression analysisMajority of peopleCause
2002
Infertility, Fertility Drugs, and Ovarian Cancer: A Pooled Analysis of Case-Control Studies
Ness RB, Cramer DW, Goodman MT, Kjaer SK, Mallin K, Mosgaard BJ, Purdie DM, Risch HA, Vergona R, Wu AH. Infertility, Fertility Drugs, and Ovarian Cancer: A Pooled Analysis of Case-Control Studies. American Journal Of Epidemiology 2002, 155: 217-224. PMID: 11821246, DOI: 10.1093/aje/155.3.217.Peer-Reviewed Original ResearchConceptsFertility drug useCase-control studyOvarian cancerDrug useNulligravid womenFertility drugsBorderline serous tumorsOral contraception useMonths of useSubfertile womenHistologic subtypeSerous tumorsPooled analysisTubal ligationOdds ratioUnknown causeBiologic causesFamily historyCancer riskContraception useInfertilityCancerOverall riskConfidence intervalsWomen
2001
Human Hypertension Caused by Mutations in WNK Kinases
Wilson F, Disse-Nicodème S, Choate K, Ishikawa K, Nelson-Williams C, Desitter I, Gunel M, Milford D, Lipkin G, Achard J, Feely M, Dussol B, Berland Y, Unwin R, Mayan H, Simon D, Farfel Z, Jeunemaitre X, Lifton R. Human Hypertension Caused by Mutations in WNK Kinases. Science 2001, 293: 1107-1112. PMID: 11498583, DOI: 10.1126/science.1062844.Peer-Reviewed Original ResearchMeSH KeywordsAmino Acid SequenceBase SequenceChromosome MappingChromosomes, Human, Pair 12Chromosomes, Human, Pair 17CytoplasmFemaleGene Expression Regulation, EnzymologicGenetic LinkageHumansHypertensionIntercellular JunctionsIntracellular Signaling Peptides and ProteinsIntronsKidney Tubules, CollectingKidney Tubules, DistalMaleMembrane ProteinsMicroscopy, FluorescenceMinor Histocompatibility AntigensMolecular Sequence DataMutationMutation, MissensePedigreePhosphoproteinsProtein Serine-Threonine KinasesPseudohypoaldosteronismSequence DeletionSignal TransductionWNK Lysine-Deficient Protein Kinase 1Zonula Occludens-1 ProteinConceptsMajor public health problemPublic health problemRenal salt reabsorptionAntihypertensive drugsHuman hypertensionUnknown causeDistal nephronKidney segmentsPseudohypoaldosteronism type IIHealth problemsSalt reabsorptionHypertensionWNK1 expressionNew targetsWNK kinasesTight junctionsType IISerine-threonine kinaseIntronic deletionWNK4WNK familyMutationsWNK1KinaseExcretion
2000
Activating Mineralocorticoid Receptor Mutation in Hypertension Exacerbated by Pregnancy
Geller D, Farhi A, Pinkerton N, Fradley M, Moritz M, Spitzer A, Meinke G, Tsai F, Sigler P, Lifton R. Activating Mineralocorticoid Receptor Mutation in Hypertension Exacerbated by Pregnancy. Science 2000, 289: 119-123. PMID: 10884226, DOI: 10.1126/science.289.5476.119.Peer-Reviewed Original ResearchMeSH KeywordsAdolescentAldosteroneAmino Acid SequenceAmino Acid SubstitutionBase SequenceBinding, CompetitiveDimerizationFemaleHeterozygoteHumansHypertensionMaleModels, MolecularMolecular Sequence DataPedigreePoint MutationPregnancyPregnancy Complications, CardiovascularProgesteroneProtein ConformationProtein Structure, SecondaryReceptors, MineralocorticoidReceptors, SteroidSteroidsConceptsMineralocorticoid receptorMajor public health problemMineralocorticoid receptor mutationsPregnancy-related hypertensionEarly-onset hypertensionPublic health problemMR antagonistsUnknown causeHypertensionReceptor mutationsHealth problemsNuclear hormone receptorsReceptor activationPotent agonistHormone receptorsReceptor specificityMR activityWild-type receptorReceptorsPregnancyMutationsBiochemical studiesGroupProgesteroneAgonists
1995
Mapping a gene causing cerebral cavernous malformation to 7q11.2-q21.
Günel M, Awad IA, Anson J, Lifton RP. Mapping a gene causing cerebral cavernous malformation to 7q11.2-q21. Proceedings Of The National Academy Of Sciences Of The United States Of America 1995, 92: 6620-6624. PMID: 7604043, PMCID: PMC41570, DOI: 10.1073/pnas.92.14.6620.Peer-Reviewed Original ResearchMeSH KeywordsBrainChromosome MappingChromosomes, Human, Pair 7DNAFemaleGenes, DominantGenetic LinkageGenetic MarkersGenome, HumanHemangioma, CavernousHumansMagnetic Resonance ImagingMaleMolecular Sequence DataPedigreePolymerase Chain ReactionPolymorphism, GeneticRecombination, GeneticRepetitive Sequences, Nucleic Acid
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