2024
Clinical Significance of Diffusion-Weighted Brain MRI Lesions After TAVR Results of a Patient-Level Pooled Analysis
Lansky A, Grubman D, Dwyer M, Zivadinov R, Parise H, Moses J, Shah T, Pietras C, Tirziu D, Gambone L, Leon M, Nazif T, Messé S. Clinical Significance of Diffusion-Weighted Brain MRI Lesions After TAVR Results of a Patient-Level Pooled Analysis. Journal Of The American College Of Cardiology 2024, 84: 712-722. PMID: 39142725, DOI: 10.1016/j.jacc.2024.05.055.Peer-Reviewed Original ResearchConceptsTranscatheter aortic valve replacementClinical ischemic strokeAcute brain infarctionDW-MRIReceiver Operating CharacteristicIschemic strokeTranscatheter aortic valve replacement resultBrain infarctionPatient-level pooled analysisC-statisticBrain MRI lesionsAcute ischemic brain injuryDiffusion-weighted magnetic resonance imagingAortic valve replacementIndividual lesion volumesCore laboratory analysisIschemic brain injuryPredicting Ischemic StrokeMagnetic resonance imagingStroke Prevention TrialMRI lesionsValve replacementDW-MRI acquisitionsPatient-level dataPooled analysis
2023
Induced pluripotent stem cell model revealed impaired neurovascular interaction in genetic small vessel disease Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy
Zhang W, Zhao X, Qi X, Kimber S, Hooper N, Wang T. Induced pluripotent stem cell model revealed impaired neurovascular interaction in genetic small vessel disease Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy. Frontiers In Cellular Neuroscience 2023, 17: 1195470. PMID: 37361999, PMCID: PMC10285224, DOI: 10.3389/fncel.2023.1195470.Peer-Reviewed Original ResearchBrain microvascular endothelial-like cellsTransendothelial electrical resistanceCerebral autosomal dominant arteriopathyAutosomal dominant arteriopathyCADASIL patientsNeurovascular interactionsMural cellsNeurovascular unitSubcortical infarctsBlood-brain barrier functionPluripotent stem cell modelsBarrier functionBrain MRI lesionsSmall vessel diseaseBrain barrier functionCortical projection neuronsStem cell modelWild-type astrocytesFuture therapeutic developmentNVU cell typesVascular mural cellsEarly disease pathologyInduced Pluripotent Stem Cell ModelRecurrent strokeCell types
2000
A novel mutation in the thiamine responsive megaloblastic anaemia gene SLC19A2 in a patient with deficiency of respiratory chain complex I
Scharfe C, Hauschild M, Klopstock T, Janssen AJ, Heidemann PH, Meitinger T, Jaksch M. A novel mutation in the thiamine responsive megaloblastic anaemia gene SLC19A2 in a patient with deficiency of respiratory chain complex I. Journal Of Medical Genetics 2000, 37: 669. PMID: 10978358, PMCID: PMC1734685, DOI: 10.1136/jmg.37.9.669.Peer-Reviewed Original ResearchMeSH KeywordsAdolescentAnemia, MegaloblasticBase SequenceCarrier ProteinsConsanguinityDNADNA Mutational AnalysisElectron Transport Complex IFamily HealthFemaleHumansMaleMembrane Transport ProteinsMitochondria, MuscleMuscle, SkeletalMutationNADH, NADPH OxidoreductasesPedigreePoint MutationPyruvate Dehydrogenase ComplexPyruvate Dehydrogenase Complex Deficiency DiseaseThiamineConceptsComplex I activityEarly-onset autosomal recessive disorderHigh-dose thiamine supplementationBrain MRI lesionsThiamine-responsive megaloblastic anemiaAutosomal recessive disorderI activityMRI lesionsClinical featuresMegaloblastic anemiaSkin biopsiesThiamine supplementationThiamine deficiencyTypical triadSLC19A2 geneRetinal degenerationHigh dosesConsanguineous parentsShort statureMitochondrial energy productionMitochondrial abnormalitiesSevere deficiencyRecessive disorderRespiratory chain complex IChain complex I
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