Browsing by Subject "CHINESE PATIENTS"

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  • Elfving, Pia; Puolakka, Kari; Rantalaiho, Vappu; Kautiainen, Hannu; Virta, Lauri J.; Kaipiainen-Seppänen, Oili (2018)
    Objectives of this study were to examine work disability (WD) and its leading causes in incident SLE patients. Data were derived from the Finnish nationwide registries to identify all non-retired, 18 to 64-year-old incident SLE patients between 2000 and 2007. Sick benefits and WD pensions and the causes for them were monitored until the end of 2008. A total of 446 working-aged, incident SLE patients available for work force (mean age 42 +/- 13 years, 89% females) were found. During the follow-up (median 5.3 years), WD pension was granted to 27 patients. The most common cause was SLE itself (14 patients, 52%), with cumulative incidence of 3.4% (95% CI 1.9 to 5.8) in 5 years and 5.0% (95% CI 3.0 to 8.5) in 8 years, followed by musculoskeletal and psychiatric causes. The age- and sex- adjusted incidence ratio for WD pension in SLE patients due to any cause was 5.4 (95% CI 3.7 to 7.9) compared to the Finnish population. The mean number of WD days was 32 (95% CI 28 to 35) per patient-year among all SLE patients during the follow-up. The study concludes that SLE patients have an increased risk for WD already in early course of the disease.
  • Family Invest Nephropathy Diabet-E; DCCT EDIC Res Grp; Pollack, Samuela; Groop, Leif; Toppila, Iiro; Sandholm, Niina; Groop, Per-Henrik; Sobrin, Lucia (2019)
    To identify genetic variants associated with diabetic retinopathy (DR), we performed a large multiethnic genome-wide association study. Discovery included eight European cohorts (n = 3,246) and seven African American cohorts (n = 2,611). We meta-analyzed across cohorts using inverse-variance weighting, with and without liability threshold modeling of glycemic control and duration of diabetes. Variants with a P value
  • Torella, Annalaura; Zanobio, Mariateresa; Zeuli, Roberta; Blanco, Francesca del Vecchio; Savarese, Marco; Giugliano, Teresa; Garofalo, Arcomaria; Piluso, Giulio; Politano, Luisa; Nigro, Vincenzo (2020)
    A nonsense mutation adds a premature stop signal that hinders any further translation of a protein-coding gene, usually resulting in a null allele. To investigate the possible exceptions, we used theDMDgene as an ideal model. First, because dystrophin absence causes Duchenne muscular dystrophy (DMD), while its reduction causes Becker muscular dystrophy (BMD). Second, theDMDgene is X-linked and there is no second allele that can interfere in males. Third, databases are accumulating reports on many mutations and phenotypic data. Finally, becauseDMDmutations may have important therapeutic implications. For our study, we analyzed large databases (LOVD, HGMD and ClinVar) and literature and revised critically all data, together with data from our internal patients. We totally collected 2593 patients. Positioning these mutations along the dystrophin transcript, we observed a nonrandom distribution of BMD-associated mutations within selected exons and concluded that the position can be predictive of the phenotype. Nonsense mutations always cause DMD when occurring at any point in fifty-one exons. In the remaining exons, we found milder BMD cases due to early 5' nonsense mutations, if reinitiation can occur, or due to late 3' nonsense when the shortened product retains functionality. In the central part of the gene, all mutations in some in-frame exons, such as in exons 25, 31, 37 and 38 cause BMD, while mutations in exons 30, 32, 34 and 36 cause DMD. This may have important implication in predicting the natural history and the efficacy of therapeutic use of drug-stimulated translational readthrough of premature termination codons, also considering the action of internal natural rescuers. More in general, our survey confirm that a nonsense mutation should be not necessarily classified as a null allele and this should be considered in genetic counselling.