Commercial AI solutions in detecting COVID-19 pneumonia in chest CT: not yet ready for clinical implementation?

Objectives: In response to the COVID-19 pandemic, many researchers have developed artificial intelligence (AI) tools to differentiate COVID-19 pneumonia from other conditions in chest CT. However, in many cases, performance has not been clinically validated. The aim of this study was to evaluate the performance of commercial AI solutions in differentiating COVID-19 pneumonia from other lung conditions.

Genotype and phenotype variability in Sjögren-Larsson syndrome.

The Sjögren-Larsson syndrome (SLS) is a rare autosomal recessive disorder caused by pathogenic variants in the ALDH3A2 gene, which codes for fatty aldehyde dehydrogenase (FALDH). FALDH prevents the accumulation of toxic fatty aldehydes by converting them into fatty acids. Pathogenic ALDH3A2 variants cause symptoms such as ichthyosis, spasticity, intellectual disability, and a wide range of less common clinical features.