Vzácná onemocnění u dětí – group of authors (2018)

A practical pediatrician or a doctor in a children's hospital department can no longer rely solely on routine diagnostics and therapy for common health issues. Most rare diseases are genetically conditioned, and health disorders usually manifest in the neonatal, infant, or childhood stages. Therefore, rare diseases are the domain of pediatrics. Unfortunately, up to one-third of all affected individuals die at a young age if a correct diagnosis is not established and adequate treatment is not initiated. Thus, the task of practice is to recognize rare diseases in children and contribute to etiopathogenetic diagnosis, therapy, and in some cases, life-saving through early detection. The Pediatric Clinic of the 2nd Faculty of Medicine, Charles University, and the Motol University Hospital organizes regular professional seminars for leading doctors of children's inpatient departments and their collaborators. Their aim is mutual meetings, but also sharing medical experiences, insights, and inspiration. They strive to contribute to ensuring that pediatric care in the Czech Republic forms an organic whole of high professional standards. The second volume of the new editorial series Motol Pediatric Seminars summarizes key lectures from the 'chief physician' seminar at the Motol Pediatric Clinic, which took place on February 2, 2018, and has a modest goal: to highlight...