70 research outputs found

    Diagnosis-Related Groups in Hand Surgery – a comparison of six European countries

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    Diagnosis-Related Group (DRG) is a classification system, which groups patients according to their diagnosis and resource consumption. Common hand surgical diagnoses and procedures were processed using national DRG-groupers of six European countries

    Pseudarthrosis after disruption of an incomplete luno-triquetral coalition: a case report

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    Whilst bony luno-triquetral coalitions are known to be asymptomatic, fibro-cartilage unions can cause ulnar-sided wrist pain. The purpose is to present the rare case of painful pseudarthrosis after traumatic disruption of an incomplete luno-triquetral coalition. Recommendations for proper diagnosis and treatment options will be discussed. The case of a 35-year-old male patient is reported, where disruption of a fibro-cartilaginous luno-triquetral coalition resulted in a painful pseudarthrosis. Luno-triquetral fusion with a corticocancellous wedge from the iliac crest and a Herbert screw was undertaken. Using this method pain was relieved but resulted in minor loss of range of motion. We recommend luno-triquetral fusion in the rare case of fracture or pseudarthrosis of a luno-triquetral coalition. The use of a corticocancellous wedge should be considered depending on gap formation after resection of the pseudarthrosis

    Identification of regulatory variants associated with genetic susceptibility to meningococcal disease.

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    Non-coding genetic variants play an important role in driving susceptibility to complex diseases but their characterization remains challenging. Here, we employed a novel approach to interrogate the genetic risk of such polymorphisms in a more systematic way by targeting specific regulatory regions relevant for the phenotype studied. We applied this method to meningococcal disease susceptibility, using the DNA binding pattern of RELA - a NF-kB subunit, master regulator of the response to infection - under bacterial stimuli in nasopharyngeal epithelial cells. We designed a custom panel to cover these RELA binding sites and used it for targeted sequencing in cases and controls. Variant calling and association analysis were performed followed by validation of candidate polymorphisms by genotyping in three independent cohorts. We identified two new polymorphisms, rs4823231 and rs11913168, showing signs of association with meningococcal disease susceptibility. In addition, using our genomic data as well as publicly available resources, we found evidences for these SNPs to have potential regulatory effects on ATXN10 and LIF genes respectively. The variants and related candidate genes are relevant for infectious diseases and may have important contribution for meningococcal disease pathology. Finally, we described a novel genetic association approach that could be applied to other phenotypes
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