Kingella spp. have emerged as an important cause of invasive pediatric diseases. Data on Kingella infective endocarditis (KIE) in children are scarce. We compared the clinical features of pediatric KIE cases with those of Streptococcus species IE (StIE) and Staphylococcus aureus IE (SaIE). A total of 60 patients were included in the study. Throughout the study period, a rise in incidence of KIE was noted. KIE patients were significantly younger than those with StIE and SaIE, were predominately boys, and had higher temperature at admission, history of oral aphthae before IE diagnosis, and higher lymphocyte count (p<0.05). Pediatric KIE exhibits unique features compared with StIE and SaIE. Therefore, in young healthy children <36 months of age, especially boys, with or without a congenital heart defect, with a recent history of oral aphthae, and experiencing signs and symptoms compatible with endocarditis, Kingella should be suspected as the causative pathogen.
Epilepsy is a chronic neurological disorder characterized by recurrent seizures and associated neurological, cognitive, psychological, and social effects. The prevalence of active epilepsy is estimated to be between 4-10 per 1000 individuals in the general population, with the highest incidence occurring during infancy and childhood. Genetic mutations play a significant role in epilepsy, and over 500 genes have been associated with the condition. Next-Generation Sequencing (NGS) panels are utilized for genetic testing, but a substantial proportion of results remain uncertain and are not considered directly causative of epilepsy. In this study, we reevaluated a subgroup of patients with inconclusive variant findings or multiple Variants of Uncertain Significance (VUSs) in their test results. We identified two unrelated variants c.2133G>C in SCN9A and c.316G>A in QARS1 to be potentially pathogenic variants. Additionally, we identified a frequent genetic combination, the RANBP2&RYR3 being prominent among other possible combinations. The RANBP2 gene consistently co-occurred with RYR3 variants in uncertain results, suggesting potential pathogenicity. We also analyzed unaffected parents' data and observed certain combinations inherited from different parents, raising the possibility of specific gene combinations as risk factors for the disease.
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