Clinical presentation of 13 children with alkaptonuria.

Until now, only a few studies have focused on the early onset of symptoms of alkaptonuria (AKU) in the pediatric population. This prospective, longitudinal study is a comprehensive approach to the assessment of children with recognized AKU during childhood. The study includes data from 32 visits of 13 patients (five males, eight females; age 4-17 years) with AKU. A clinical evaluation was performed with particular attention to eye, ear, and skin pigmentation, musculoskeletal complaints, magnetic resonance imaging (MRI), and ultrasound (US) imaging abnormalities. The cognitive functioning and adaptive abilities were examined. Molecular genetic analyses were performed. The most common symptoms observed were dark urine (13/13), followed by joint pain (6/13), and dark ear wax (6/13). In 4 of 13 patients the values obtained in the KOOS-child questionnaire were below the reference values. MRI and US did not show degenerative changes in knee cartilages. One child had nephrolithiasis. Almost half of the children with AKU (5/13) presented deficits in cognitive functioning and/or adaptive abilities. The most frequent HGD variants observed in the patients were c.481G>A (p.Gly161Arg) mutation and the c.240A>T (p.His80Gln) polymorphism. The newly described allele of the HGD gene (c.948G>T, p.Val316Phe) which is potentially pathogenic was identified.

The Impact of Past COVID-19 Infection on Selected Lymphocyte Subsets in Pediatric Patients.

The impact of past COVID-19 infection on the immune system remains unidentified. So far, several papers have revealed the dependence between the count of lymphocytes and their subsets and the outcome of an acute disease. However, still there is little information about long-term consequences, particularly in the pediatric population. We attempted to verify whether a dysregulation of the immune system may be the reason for observed complications after past COVID-19 infection. Hence, we tried to prove that abnormalities in lymphocyte subpopulations are found in patients a certain time after the COVID-19 infection. In our paper, we enrolled 466 patients after SARS-CoV-2 infection, and evaluated their subsets of lymphocytes within 2-12 months after infection and compared them to the control group assessed several years before the pandemic. It occurred that main differences are observed in CD19+ lymphocytes and the index CD4+/CD8+ lymphocytes. We believe that this is only the introduction to further investigation of the immune system of pediatric patients post-COVID-19 infection.