Česko-slovenská pediatrie, 2024 (vol. 79), issue 3
Screening in paediatrics
Jan David, Felix Votava
Čes-slov Pediat 2024, 79(3):129-132 | DOI: 10.55095/CSPediatrie2024/019 
Screening is an important preventive tool of paediatrics and secondary prevention. It includes nation-wide, regular, Ministry of Health-defined (in the form of decree or methodological guidance) screenings, namely neonatal laboratory screening, ultrasound screening for developmental hip dysplasia, congenital deafnees, ophthalmoscopic examination to detect congenital cataracts, and system of regular preventive appointments by a general practitioner for children and adolescents. There are other screening examinations, which are not yet consistently full-scale, for example in newborns and infant kidney´s ultrasound examination or measuring blood oxygen...
Laboratory newborn screening in the Czech Republic: results in 2010-2022 period
Felix Votava, Viktor Kožich, Karolína Pešková, Petr Chrastina, Monika Hedelová, Hana Vinohradská, David Friedecký, Andrea Holubová, Renata Gaillyová
Čes-slov Pediat 2024, 79(3):133-135 | DOI: 10.55095/CSPediatrie2024/022
The aim of this short article is to summarize the results and basic performance metrics of newborn laboratory screening from a 13-year period in the Czech Republic. The total cumulative prevalence of all 18 screened diseases was 1 : 1081. The highest prevalence was in congenital hypothyroidism 1 : 2894; phenylketonuria 1 : 4 960; cystic fibrosis 1 : 6309; biotinidase deficiency 1 : 9253; congenital adrenal hyperplasia 1 : 12 190 and medium-chain fatty acid acyl-CoA dehydrogenase deficiency 1 : 22 833. The other screened diseases showed a prevalence of about 1 : 100 000 or less.
The expansion of national newborn screening marks an advancement in diagnosing patients with severe inborn errors of immunity
Markéta Bloomfield, Adam Klocperk, Helena Schneiderová, Eva Hlaváčková, Marek Turnovec, Lukáš Tichý, Zbyněk Čech, Petr Chrastina, Lenka Dvořáková, Karolína Pešková, Renata Formánková, Marcela Vlková, Petr Bejdák, Tomáš Kalina, Eva Froňková, Viktor Bíly, Dita Říčná, Hana Grombiříková, Radana Zachová, Barbora Obermannová, Petr Sedláček, Jiří Litzman, Tomáš Freiberger, Anna Šedivá
Čes-slov Pediat 2024, 79(3):136-141 | DOI: 10.55095/CSPediatrie2024/023
Severe Combined Immunodeficiency (SCID) screening is a collective term for an early detection tool for a range of serious inborn errors of immunity. The quantification of excision DNA molecules TREC and KREC allows for early diagnosis of severe cellular and antibody immune defects. The recently concluded Czech pilot screening program (2022-2023) included over 90% of newborns (with 198,675 samples examined). Two patients with SCID were diagnosed based on CD3 epsilon deficiency and atypical complete DiGeorge syndrome, and another 17 patients were found to have other inborn errors of immunity, including 9 agammaglobulinemia. Screening enabled early causal...
Utilization of neonatal screening in monitoring of iodine status
Martin Světnička, Monika Hedelová, Hana Vinohradská, Eva El-Lababidi
Čes-slov Pediat 2024, 79(3):142-144 | DOI: 10.55095/CSPediatrie2024/021
The iodine supply of pregnant and lactating women is crucial for the health of the fetus and newborn, especially for the proper function of the thyroid gland. Inadequate iodine saturation can lead to serious consequences, including permanent health damage to the child. In the Czech Republic, we use neonatal TSH obtained within the Nationwide Newborn Screening Program for Congenital Hypothyroidism to monitor the iodine supply of newborns. The monitoring results were favorable until recently (until 2018 in Bo hemia and until 2022 in Moravia); however, in recent years, there has been an increase in the percentage of newborns with elevated TSH, indicating...
Vitamin B12 deficiency - another challenge to expand newborn laboratory screening?
Samuel Stanovský, Josef Bártl, Kristýna Barvíková, Petr Chrastina, Jakub Krijt, Jitka Sokolová, Klára Berková, Zbyněk Straňák, Katarína Tichá, Jan Janota, Mária Eliášová, Richard Plavka, Jiří Zach, Viktor Kožich, Tomáš Honzík
Čes-slov Pediat 2024, 79(3):145-149 | DOI: 10.55095/CSPediatrie2024/024
Methods: At least one abnormal primary marker is required for suspected B12 deficiency: propionylcarnitine > 3.8 μmol/l, propionylcarnitine/acetylcarnitine ratio > 0.3, methionine < 7 μmol/l, propionylcarnitine/methionine ratio > 0.5 (determined by tandem mass spectrometry). Secondary markers include methylmalonic acid (MMA) > 2.5 μmol/l and total homocysteine (tHcy) > 12 μmol/l. In the case of NLS positivity, both the newborn and the mother undergo a Cbl absorption test. We determine total B12 (measured by electrochemiluminescence immunoassay), holoTC (measured by chemiluminescence immunoassay),...
Patofyziologie a detekce hypoxemie u dětí, její důsledky a nejčastější onemocnění indikovaná k dlouhodobé domácí oxygenoterapii
Tereza Holeček Krištofová, Václav Koucký, Petr Pohunek
Čes-slov Pediat 2024, 79(3):150-155 | DOI: 10.55095/CSPediatrie2024/018
Long term home oxygen therapy for children is defined as oxygenotherapy outside hospital environment dedicated for patients with lung diseases, diseases of pulmonary vascular system and diseases of the thoracic wall (ventilation) suffering from chronic respiratory insufficiency of type 1. The main target of a long-term home oxygen therapy in children (LTOT) is to prevent prolonged hypoxia in children with chronic respiratory condition. Prolonged hypoxia can lead to health complications such as pulmonary hypertension, cognitive impairment etc. LTOT enables patients to spend more time at home and improves their quality of life. LTOT is indicated for...
The use of the skeletal survey in suspected physical child abuse - a case report
Ivan Peychl, Lada Vilkusová, Ladislava Mašková, Eliška Popelová, Jan Škvařil, Romana Pospíšilová, Klára Navrátilová, Jana Vašíčková, Theodora Voráčková, Martin Mašek
Čes-slov Pediat 2024, 79(3):156-160 | DOI: 10.55095/CSPediatrie2024/009
A six month old girl with limited left leg movement and left foot and left lower leg edema was admitted to the pediatric department. There was no history of trauma. Plain radiographs showed a left tibial fractures. Due to suspected abusive origin of the injury, the girl underwent a thorough examination, including a full initial and follow-up skeletal survey. Multiple fractures were detected , including a clinically occult right leg fracture. Healing of all injuries was uncomplicated and required conservative approach only. The case was referred to the police and Child Protection Services for further management.
Thirty years since the leptin discovery: messenger of adipose tissue, regulator of eating behavior and a unique drug
Jan Lebl, Petra Dušátková, Jana Křenek Malíková
Čes-slov Pediat 2024, 79(3):161-166 | DOI: 10.55095/CSPediatrie2024/017
Leptin is produced in adipocytes and transmits the information about nutritional status to regulation centers in hypothalamic arcuate nucleus. It represents a key component of the homeostatic system of energy balance. Leptin deficiency due to pathogenic variants of LEP gene manifests as progressive obesity since the first months of life and a constant perception of hunger. It is accompanied by hyperinsulinemia, hypothyroidism, hypogonadotropic hypogonadism and delayed neuropsychological and cognitive development. The immune response is being impaired due to low number and limited proliferation capacity of T lymphocytes. Majority of children...
Eating disorders in childhood and adolescence
Jiří Koutek, Jana Kocourková
Čes-slov Pediat 2024, 79(3):167-172 | DOI: 10.55095/CSPediatrie2024/020
Eating disorders are psychosomatic disorders that primarily affect the psyche, but also significantly affect the somatic area. They occur mainly in form of anorexia nervosa and bulimia nervosa. The disorder mainly affects girls and young women, often begins during puberty and adolescence and persists into adulthood. A characteristic feature of anorexia nervosa is restricting food intake in order to reduce weight, bulimia nervosa is characterized by paroxysmal overeating followed by vomiting. These conditions are subject of cooperation between a general prediatrician, a hospital pediatrician and a child and adolescent psychiatrist. It is necessary to...