Excessive exercise with limited recovery may lead to detrimental states of overreaching or the overtraining syndrome. Chronic maladaptation in endocrine and immune mechanisms occur with the incidence of these states. Exercise-induced cortisol and testosterone responses have been proposed as biomarkers of overreaching, with blunted responses following intensified-training periods.
View Article and Find Full Text PDFWe identified a consanguineous kindred, of three affected children with severe autoinflammation, resulting in the death of one sibling and allogeneic stem cell transplantation in the other two. All three were homozygous for p.S208C mutation; however, their phenotype was more severe than previously reported, prompting consideration of an oligogenic autoinflammation model.
View Article and Find Full Text PDFObjectives: Monogenic autoinflammatory disorders (AID) and primary immunodeficiencies can present early in life with features that may be mistaken for Behçet's disease (BD). We aimed to retrospectively describe the clinical and laboratory features of 11 paediatric cases referred for suspected BD who turned out to have an alternative, monogenic disease mimicking BD.
Methods: Retrospective, paediatric BD specialist multicentre case series.