Diagnostic errors in 49 patients with appendicitis handled by the Swedish Health and Social Care Inspectorate were analyzed. Diagnostic errors were more common in young or old patients, and among patients with atypical symptoms. Adjunct diagnostic tools, such as computerized tomography and/or ultrasound examination, also have limitations as regards diagnostic precision, and should therefore not be seen as golden standard. Increased individual knowledge, and not systems factors or safety culture, appears to be a suitable remedy against diagnostic errors.
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EEFSEC deficiency: A selenopathy with early-onset neurodegeneration.
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Inborn errors of selenoprotein expression arise from deleterious variants in genes encoding selenoproteins or selenoprotein biosynthetic factors, some of which are associated with neurodegenerative disorders. This study shows that bi-allelic selenocysteine tRNA-specific eukaryotic elongation factor (EEFSEC) variants cause selenoprotein deficiency, leading to progressive neurodegeneration. EEFSEC deficiency, an autosomal recessive disorder, manifests with global developmental delay, progressive spasticity, ataxia, and seizures.
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