Publications by authors named "Elin Ola Klemenzdottir"
Article Synopsis
- Marfan syndrome (MFS) is a genetic disorder caused by mutations in the FBN1 gene, leading to serious health issues like aortic aneurysms and skeletal deformities, with Icelandic researchers studying its prevalence and genetic causes.
- The study involved whole-genome sequencing of 27 individuals diagnosed with MFS but lacking confirmed genetic evidence, finding 15 significant variants in the FBN1 gene across 44 individuals, with many undiagnosed prior to this research.
- The most common variant, p.(Arg2680Cys), traced back to a 19th-century ancestor, appears to be linked to a higher occurrence of abdominal aortic aneurysms, suggesting a prevalence of MFS
In recent months the incedence of invasive group A streptococcal infections (Streptococcus pyogenes) has increased worldwide. In the Children's Hospital Iceland 20 such cases were admitted during a four month period, until which time the avarage was one or two children admitted with an invasive GAS infection per year. To demonstrate the variability in the presentation of these invasive infections four cases were chosen for discussion in this case-series.
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