Česko-slovenská pediatrie, 2025 (vol. 80), issue 4
50 years of newborn screening for phenylketonuria
Renata Tyčová
Čes-slov Pediat 2025, 80(4):169-172 | DOI: 10.55095/CSPediatrie2025/028 
40 years of neonatal screening for congenital hypothyroidism
Eva El-Lababidi
Čes-slov Pediat 2025, 80(4):173-176 | DOI: 10.55095/CSPediatrie2024/062
Congenital hypothyroidism is the most frequent inborn endocrine disorder and also the most frequent disease diagnosed by newborn screening. Nation-wide neonatal screening for congenital hypothyroidism was introduced in the Czech Republic 40 years ago. This article summarises its history and the present as well. Despite the fact that early diagnostics and immediate substitution treatment with levothyroxine are the main factors playing role in psychomotor, mental and somatic development of the majority of children with congenital hypothyroidism, more than 70 percent of babies worldwide are not born in the area with established neonatal screening.
ReNU syndrome - a newly described prevalent neurodevelopmental disorder: first case in the Czech Republic
Kateřina Slabá, Petra Pokorná, Kateřina Koželková, Eliška Hloušková, Robin Jugas, Jana Kubátová, Regina Demlová, Pavlína Danhofer, Petr Jabandžiev, Tereza Svatoňová, Ondřej Slabý
Čes-slov Pediat 2025, 80(4):177-181 | DOI: 10.55095/CSPediatrie2025/029
We present the case of a 5 and half year-old boy with severe global developmental delay, hypotonia, severe growth failure, failure to thrive, craniofacial dysmorphism, and other difficulties, who was diagnosed by whole genome sequencing (WGS). The diagnosis was carried out within the Czech national project BabyFox. A pathogenic variant in the RNU4-2 gene was identified in the patient, which has been associated with the prevalent disorder known as RNU4-2 neurodevelopmental delay syndrome, also known as ReNU syndrome since 2024. Although it is a newly described diseases, ReNU syndrome is one of the most prevalent monogenic neurodevelopmental disorder ,...
Differential diagnosis of behavioral disturbances in children
Vladimír Komárek
Čes-slov Pediat 2025, 80(4):182-183 | DOI: 10.55095/CSPediatrie2025/030
Glucocorticoids from a pathophysiological perspective
Šárka Pešková, Klára Bernášková, Jan David
Čes-slov Pediat 2025, 80(4):184-188 | DOI: 10.55095/CSPediatrie2025/031
Glucocorticoids are hormones of the adrenal cortex, whose synthetic derivatives are widely used in the therapy of various diseases, mainly due to their anti-inflammatory and immunosuppressive effects. However, their administration may result in so-called hypercortisolism, the clinical symptoms of which resemble the consequences of overproduction of endogenous glucocorticoids. This article presents the pathophysiological background of glucocorticoid induced changes in pediatric patients, the understanding of which is essential for proper therapeutic practice.
RSV disease and its prevention options in infants
Jitka Bolchová
Čes-slov Pediat 2025, 80(4):189-194 | DOI: 10.55095/CSPediatrie2025/026
Advances in pediatric antituberculosis therapy: toward child-friendly all-in-one dosage forms
Karolína Doležalová
Čes-slov Pediat 2025, 80(4):195-196 | DOI: 10.55095/CSPediatrie2025/032
Contemporary pharmaceutical agents, specifically orodispersible tablets, are now entering the management of tuberculosis in children. The pharmaceuticals are available in two forms: either in combination (isoniaside+rifampicin+pyrazinamide, isoniazid+rifampicin) or as monotherapy (isoniaside, ethambutol). The treatment is primarily indicated for the youngest age groups.
Pediatric tuberculosis and nontuberculous mycobacterial infections: current challenges and clinical insights
Karolína Doležalová
Čes-slov Pediat 2025, 80(4):197-203 | DOI: 10.55095/CSPediatrie2025/033
Tuberculosis (TB) is an infectious disease caused by Mycobacterium tuberculosis. It primarily affects the lungs but can involve any organ system. Children at higher risk include those from socioeconomically disadvantaged environments, with a family history of TB, of Roma ethnicity, or migrants from regions with a high incidence of tuberculosis. Therefore, TB can be regarded as a social disease caused by a bacterium. Diagnosis is based on three main pillars: the presence of an epidemiological link, a positive tuberculin skin test (TST) and interferon gamma release assay (IGRA), and characteristic radiological findings. Treatment consists of a...
The importance of a family for adolescent development
Kryštof Kantor, Liron Kantor
Čes-slov Pediat 2025, 80(4):204-207 | DOI: 10.55095/CSPediatrie2025/034
We are experiencing a significant increase in mental health problems in adolescence. Adolescence is a specific period of human development during which a young person gains more independence, but at the same time becomes also more vulnerable. Family factors can both contribute to an increased risk of developing a mental disorder, and serve as a protective factor. The development of mental health problems is usually multifactorial. In contemporary transactional models, the role of the family in the etiopathogenesis of these disorders is explained by complex reciprocal interactions between the individual's vulnerability and the family environment. Family...