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pmid: 18855162
Patients with hereditary hemorrhagic telangiectasia genotype ALK-1 (HHT2-ALK-1) with nonsense mutation demonstrated tendentially higher health-related quality of life (HR-QOL) scores than patients with HHT with genotype ENG (HHT1-ENG) with missense mutation.HHT, also known as Osler-Weber-Rendu syndrome, comprises different expressions depending on genetic type and mutation type. The influence of HHT type on HR-QOL has not been established and is addressed in this paper.A total of 94 patients with confirmed diagnoses of HHT (Curaçao criteria) participated in this study. EDTA (ethylene diamine tetraacetic acid) blood samples of 24 patients were sequenced genetically into genotype HHT1 (ENG) vs HHT2 (ALK-1) and mutation type missense vs nonsense. HR-QOL was assessed with the German Short Form 36 Health Survey (SF-36).HHT2 patients (genotype ALK-1) demonstrated significantly higher physical component scores than HHT1 patients (effect size d=0.62). Patients with genotype ENG (HHT1) with nonsense mutations showed significantly higher mental component scores than patients with missense mutations (effect size=0.79).
Adult, Aged, 80 and over, Male, Genotype, Activin Receptors, Type II, Endoglin, Mutation, Missense, Receptors, Cell Surface, Middle Aged, Health Surveys, Young Adult, Antigens, CD, Codon, Nonsense, Quality of Life, Humans, Female, Telangiectasia, Hereditary Hemorrhagic, Aged
Adult, Aged, 80 and over, Male, Genotype, Activin Receptors, Type II, Endoglin, Mutation, Missense, Receptors, Cell Surface, Middle Aged, Health Surveys, Young Adult, Antigens, CD, Codon, Nonsense, Quality of Life, Humans, Female, Telangiectasia, Hereditary Hemorrhagic, Aged
citations This is an alternative to the "Influence" indicator, which also reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically). | 16 | |
popularity This indicator reflects the "current" impact/attention (the "hype") of an article in the research community at large, based on the underlying citation network. | Average | |
influence This indicator reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically). | Top 10% | |
impulse This indicator reflects the initial momentum of an article directly after its publication, based on the underlying citation network. | Top 10% |