Exploring emerging JAK inhibitors in the treatment of Aicardi-Goutières syndrome.

Introduction: Aicardi-Goutières syndrome (AGS) is a genetically heterogeneous monogenic autoinflammatory disorder classified as an 'interferonopathy'. Nine genes have been implicated in AGS, encoding proteins involved in nucleic acid clearance, repair, sensing, or histone pre-mRNA processing. Dysregulation in these pathways leads to excessive type I interferon production, the primary driver of the disease.

Effects of a video-feedback intervention on parenting behavior and state anxiety in mothers of children with neurodevelopmental disabilities.

Neurodevelopmental disability (ND) poses a significant challenge to infants' socio-emotional and cognitive development, as well as to caregiving dynamics, such as parental sensitivity and mother-infant interaction. Prior research highlights the crucial role of early parenting support interventions in enhancing parental behaviors, serving as a protective developmental factor for children at risk for or diagnosed with ND. This single-cohort, multicentric study aims to evaluate the efficacy of early video-feedback intervention (VFI) in improving maternal parenting behaviors.

Management, treatment, and clinical approach of Sydenham's chorea in children: Italian survey on expert-based experience.

Sydenham's chorea (SC), an autoimmune disorder affecting the central nervous system, is a pivotal diagnostic criterion for acute rheumatic fever. Primarily prevalent in childhood, especially in developing countries, SC manifests with involuntary movements and neuropsychiatric symptoms. Predominantly occurring between ages 5 and 15, with a female bias, SC may recur, particularly during pregnancy or estrogen use.