JOURNAL OF THE CZECH PEDIATRIC SOCIETY AND THE SLOVAK PEDIATRIC SOCIETY

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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 with leptin deficiency suffer from severe respiratory tract infections with hypoxia. They require frequent hospitalization at intensive care units , and 26% die within childhood. Therapeutic administration of recombinant leptin (metreleptin) is effective in LEP gene defects as well as in lipodystrophic syndromes with low leptin due to the fat tissue deficiency. Even lipodystrophic syndromes if untreated, reduce the life expectancy due to their serious metabolic sequalae.

Long-acting growth hormone – the first year real-life experience

Original Papers

Jan Lebl, Irena Aldhoon Hainerová, Jana Černá, Eva El-Labibidi, Stanislava Koloušková, Ivana Kotvalová, Olga Magnová, Dana Novotná, Barbora Obermannová, Renata Pomahačová, Štěpánka Průhová, Ondřej Souček, Jiří Strnadel, Marta Šnajderová, Zdeněk Šumník, Jiřina Zapletalová

Čes-slov Pediat 2024, 79(89):S20-S24 | DOI: 10.55095/CSPediatrie2024/053

Somatrogon (Ngenla®) is the first long-acting growth hormone marketed in the Czech Republic. It is administered subcutaneously once weekly and is approved for use in growth hormone deficient patients aged from 3 to 18 years. The treatment costs are similar to daily growth hormone and a full reimbursement is guaranteed in centers for growth hormone therapy. Within 2023, the first year of a full availability of somatrogon, treatment was initiated in 166 pediatric patients. Of these, 106 (64%) were transferred from daily injections, and 60 (36%) were newly initiated. Children with newly initiated treatment were aged 7.2 years (median; range 3.0-14.0), and included 24 girls (40%) and 36 boys (60%). Out of 106 patients transferred from daily treatment, 26 were girls and 80 boys (25:75%) and their age was 10.8 years (median; range 3.0-18.0). The duration of previous daily therapy was 5.0 years (median; range 0.5-16.0). As expected, the patients transferred from previous daily injections were older than those with a newly initiated somatrogon therapy (p<0.0001). Boys were overrepresented among the transferred patients even if compared with the newly initiated patients (p<0.05). In previous controlled clinical trials, the patients and their parents confirmed a lower treatment burden when on somatrogon if compared to daily growth hormone. Therefore, long-acting growth hormone is expected to increase treatment adherence, to improve quality of life, and to contribute to better treatment outcomes. Currently, this journey has just started; therefore, we aim to collect the early real-life somatrogon experience.

What is the impact of social media on the psychological well-being of children and adolescents?

David Kolouch

Čes-slov Pediat 2025, 80(1):9-14 | DOI: 10.55095/CSPediatrie2025/001

Morbidity of children under 2 years of age in the districts with different degrees of air pollution

Short News

Anna Pastorková, Miroslav Dostál, Miloš Velemínský, Radim J. Šrám

Čes-slov Pediat 2022, 77(6):366-369 | DOI: 10.55095/CSPediatrie2022/065

The morbidity of 300 children from birth to 2 years in the districts of Karviná (KI) and České Budějovice (CB), differing in the degree of air pollution, was studied. As expected, there were more sick children in the Karviná district, the most common being upper respiratory tract infections, with an average frequency of 126,8 dg / 100 children / year compared to 98 dg / 100 children / year in CB. 84% of children from KI and 75% of children from CB became ill. The proportion of children with lower respiratory tract disease was comparable - 29.7% in KI and 30.7% in CB, with a frequency of 26.85 dg / 100 children in KI and 24.6 dg / 100 children in CB. Higher morbidity in Karviná was also in viral diseases, diseases of the gastrointestinal tract and skin.

Recommendations of the Working group for paediatric gastroenterology hepatology and nutrition of the

Jan Melek, Simona Bělohlávková, Vendula Látalová, Jakub Pecl, Markéta Štanclová, Ondřej Hradský, Petr Jabandžiev, Eva Karásková, Jan Schwarz, Martin Zimen, Vanda Mečiarová, Kateřina Kamarádová, Petra Rozsívalová, Jiří Bronský

Čes-slov Pediat 2024, 79(90):5-28 | DOI: 10.55095/CSPediatrie2024/061

EoE (Eosinophilic Esophagitis) is a chronic, progressive, immune-mediated disease characterized by an eosinophil-predominant infiltration of the esophageal mucosa (≥15 eosinophils per high-power field in at least one biopsy sample) in the absence of other causes of esophageal eosinophilia. Significant ri sk factors for the development of EoE include male gender, atopy, history of esophageal atresia, and a positive family history. In the personal medical history of children with EoE, conditions such as asthma, allergic rhinitis, atopic dermatitis, and food allergies are often present. Symptoms in infants and younger children tend to be nonspecific (vomiting, feeding refusal, failure to thrive). In adolescents, symptoms typically include dysphagia, food impaction, heartburn, and regurgitation. Early diagnosis can alter disease progression and prevent complications, particularly the progression of fibrotic and stenotic processes.

Current management of pediatric patients with acute pyelonephritis in the Bratislava region

Vladimír Harvan, Patrik Konopásek, Jakub Zieg, Jakub Gécz, Marcel Brenner, Ivo Topoľský, Ján Breza, Peter Bartoň, Barbora Piteková

Čes-slov Pediat 2025, 80(1):26-29 | DOI: 10.55095/CSPediatrie2025/004

Acute pyelonephritis is a common bacterial infection in childhood. It is a concerning infection for pediatricians due to the risk of acute complications, such as urosepsis, or long-term complications, like chronic kidney disease and hypertension. Proper management of pediatric patients with acute pyelonephritis significantly reduces the risk of potential complications, which is why it receives increased attention today.

40 years of "growth hormone era": Czech footprint in the global recognition and treatment of children with growth disorders

Jan Lebl, Jiřina Zapletalová

Čes-slov Pediat 2025, 80(90):7-17 | DOI: 10.55095/CSPediatrie2025/052

Recombinant human growth hormone was firstly used 40 years ago. The "growth hormone era" substantially increased the research interest in growth regulation and in elucidation etiopathogenesis of various growth disorders. Some research findings led to novel indications of growth hormone therapy. Alongside with growth hormone deficiency, growth hormone is currently indicated for treatment of pediatric patients with Turner syndrome, Prader-Willi syndrome, Noonan syndrome, with SHOX gene/protein deficiency, in those born small for gestational age with short stature in childhood (SGA-SS), and in short children with chronic renal disease. This review is predominantly focused on original Czech research projects in growth disorders, an on their publication outcomes.

Self-harm and suicidal behavior in adolescence

Jiří Koutek, Jana Kocourková

Čes-slov Pediat 2026, 81(1):28-32 | DOI: 10.55095/CSPediatrie2025/055

Self-harm and suicidal behavior fall within the spectrum of autoaggressive behavior, which is especially common during adolescence. Self-harm itself is not intended to lead to death, but it is a significant risk factor for suicidal behavior. It involves conscious, deliberate, repetitive self-injury without clear suicidal motivation. The most common forms of self-harm include cutting the skin (on the wrists, forearms, backs of hands), scratching , and carving symbols into the skin. Overdosing on medication, which is repetitive and without obvious suicidal intent, is often included in the category of self-harm. The occurrence of self-harm is particularly frequent among adolescents, with a higher prevalence among girls. It is often associated with personality pathology, with the most common diagnosis being borderline personality disorder, which is characterized by emotionally unstable traits, and possibly also dissocial and histrionic traits. The cause can also be linked to childhood trauma, such as emotional or sexual abuse. Suicidal behavior encompasses a wide range of autoaggressiveness, from suicidal ideations and tendencies to suicide attempts and completed suicides. A completed suicide is defined as the conscious and intentional ending of one's life. The decision to die may not be clear-cut, and ambivalence is typical, especially in adolescence. Suicidal behavior is the result of a multifactorial process, in which multiple factors contribute to its course and outcome. Risk factors play an important role, for example, problems in family and peer relationships, the presence of a psychiatric disorder, the influence of social media. Suicidal behavior may be preceded by a pre-suicidal syndrome, which often includes somatic symptoms. Collaboration between pediatricians, psychologists, and child psychiatrists is crucial. In addition to addressing the physical condition, suicidal risk assessment and appropriate care must be ensured. The indispensable role of the general pediatrician lies in prevention

Child or adolescent abuse and neglect

Ivan Peychl, Eliška Popelová, Helena Neumannová, Terezie Pemová, Jana Kocourková

Čes-slov Pediat 2026, 81(1):33-42 | DOI: 10.55095/CSPediatrie2026/004

Physical, sexual, psychological, emotional abuse, and neglect of a child can have serious consequences - both immediate, including fatal outcomes, and long-term or lifelong effects. Perpetrators are most often parents or other family members. Physical abuse may be identified by various external injuries, fractures, and damage to soft tissues or internal organs. A specific and severe form is abusive head trauma in infants and young children, where violent shaking may cause subdural hemorrhage and brain injury. Sexual abuse can sometimes present with physical signs of past violence, though more often the physical findings are normal. In such cases, changes in the child's behavior and medical history are key to diagnosis. Psychological and emotional abuse involves repeated humiliation and intimidation. Observing interactions between the parent and child can aid in detecting this type of abuse. Child neglect can take many forms, including failure to meet the child's hygienic, nutritional, educational, health, or emotional needs, or failure to provide age-appropriate supervision. A specific form of abuse is medical child abuse, in which a caregiver fabricates or induces illness in the child. Hospital admission is warranted when physical abuse is suspected. Depending on the case, the evaluation may include a detailed medical history, physical examination, targeted laboratory tests, and imaging studies. For children presenting with acute neurological symptoms, an immediate CT scan of the head is indicated. In all children under one year of age with suspected physical abuse, MRI of the brain and cervical spine may be performed - even if there are no neurological symptoms. Children under two years of age undergo a radiographic skeletal survey. Treatment depends on the type of abuse. Initial care focuses on stabilizing the child's condition, often in an intensive care unit for severe cases, followed by thorough examination and trauma management. Ongoing care is complex and multidisciplinary, typically involving physicians and surgeons from various specialties, psychologists, social workers, and the Czech Police.

Vaccination during pregnancy - pertussis, RSV infection, influenza and SARS-CoV-2 infection

Markéta Geleneky, Zuzana Blechová

Čes-slov Pediat 2025, 80(Suppl.1):19-23 | DOI: 10.55095/CSPediatrie2025/022

Vaccination during pregnancy is one of the preventive procedures used worldwide, leading to a reduction in morbidity and mortality of both pregnant women and, in particular, their newborn children. The safety and effectiveness of these measures have been verified. The article provides a basic overview of four infectious diseases against which vaccination during pregnancy can be used: pertussis, in fluenza, RSV infection and SARS-CoV-2 infection. The risk factors for their development and possible complications that can affect both - the pregnant woman and the newborn child - are discussed. The space is devoted in particular to the recommended procedure for vaccination against these diseases, the vaccines used, their safety, adverse effects and the method of transmission of maternal antibodi es to the fetus. The ideal vaccination schedule for pregnant women is presented. Other options for vaccination during pregnancy are also mentioned, in specific situations.

Sucking and swallowing disorders in infants

Barbora Černá, Hana Nestávalová, Barbora Jírová, Kristýna Zárubová, Barbora Obermannová

Čes-slov Pediat 2026, 81(2):81-87 | DOI: 10.55095/CSPediatrie2026/011

Disorders of sucking and swallowing in infants represent a significant clinical problem with potentially serious consequences for the overall development of the child. The skills necessary for oral feeding begin to develop prenatally and continue to mature during the first months of life, when coordination of sucking, swallowing, and breathing is crucial. The causes of these disorders include anat omical, neurological, and other systemic factors. Clinical manifestations of sucking and swallowing disorders range from severe aspiration episodes to subtle, less specific findings such as poor weight gain. Diagnosis requires multidisciplinary collaboration and includes a detailed medical history, physical examination, and functional assessment of motor, oromotor and sensory skills (clinical evaluation by a speech and swallowing therapist, and possibly a videofluoroscopic swallow study or flexible endoscopic evaluation of swallowing) and nutrition. Early identification of these disorders and appropriate intervention are essential for achieving safe and effective oral feeding.

Gut microbiome in newborn

Bára Zapletalová, Tomáš Matějek, Radka Bolehovská

Čes-slov Pediat 2025, 80(2):87-96 | DOI: 10.55095/CSPediatrie2024/064

Gut microbiome is regarded as an invisible organ influencing the human organism throughout the entire lifespan. Microbiome determines various physiological processes including immune system maturation, metabolic programming and furthermore, facilitates connections even between relatively distant organs (e.g. gut-brain axis). Its development begins shortly after birth and is modified by various aspects. We can categorize them into modifiable ( antibiotic treatment, diet) and non-modifiable factors (gestational age, delivery mode). Intestinal alteration caused by these influencing factors might contribute to short-term and long-term morbidity. Our objective is to comprehend the microbiome development itself and its modifying factors. Understanding the microbiome complexity could help us make such medical decisions to outweigh negative sequelae of an early gut alteration. This review presents topics concerning microbiome origin and its development along with potential clinical aspects in term and preterm newborn. We also include recommendations for parents and health care professionals regarding possible attitudes, based on current scientific knowledge, to diminish early gut microbiome alterations.

New trends in the management of anaphylaxis in pediatric patients

Barbora Piteková, Jakub Gécz, Marcel Brenner, Adam Markocsy, Miloš Jeseňák

Čes-slov Pediat 2025, 80(6):304-309 | DOI: 10.55095/CSPediatrie2025/036

Anaphylaxis is a pediatric emergency. Early recognition and correct management are core components to deal with this life-threatening situation. Recently published recommendations emphasize the critical importance of rapid recognition of anaphylaxis symptoms and epinephrin administration without delay. The proper management of pediatric patients with anaphylaxis receives increased attention today and recommendations for clinical practice have been updated.

Scoliosis screening in school-aged children (6-15 years) in the Czech Republic

Jana Kratěnová, Naděžda Čapková, Kristýna Žejglicová, Kateřina Smíšková

Čes-slov Pediat 2026, 81(2):94-97 | DOI: 10.55095/CSPediatrie2025/059

Introduction. Scoliosis in children represents a significant clinical and public health concern, requiring attention not only from pediatricians but also from other healthcare professionals, educators, and parents. The primary aim of this study was to assess the prevalence of pathological spinal curvature among school-aged children. Methods. Scoliosis screening was carried out by rehabilitation physicians, physiotherapists, and staff from the National Institute of Public Health. The methodology followed the recommendations of a specialized rehabilitation center for scoliosis diagnosis and treatment, in accordance with the 2018 US Guidelines. Screening included the Adams forward bend test complemented by scoliometer measurement. A total of 1,369 children in age 6-11 (grades 1-5 of primary school) and 767 children in age 12-15 (grades 6-9) from several elementary schools in the Czech Republic were examined. Results. A positive Adams test result with scoliometer measurement (≥ 5°) was identified in 18.6 % of children. Physiological findings were observed in 58.1 %, while 23.3 % of children showed minor deviations (3°-4°). Children with results of 5°-6° are considered at risk of scoliosis, and follow-up within 6-12 months is recommended. For those with results ≥ 7°, the risk is higher and referral to a physician is advised. Conclusion. In several countries, scoliosis screening is regarded as an effective tool for early detection and prevention of severe complications, including the need for surgical intervention. Despite the potential for both false-positive and false-negative results, it offers an important opportunity for timely identification, initiation of treatment, and improved prognosis. In the Czech Republic, scoliosis screening is currently substituted by routine preventive medical examinations by a general practitioner for children and adolescents.

Phospho-calcium metabolism disorders

Milan Bayer

Čes-slov Pediat 2025, 80(2):68-75 | DOI: 10.55095/CSPediatrie2025/008

A rare cause of cervical lymphadenopathy in childhood

Jan Volf, Jana Lhotská, Václav Eis, Ľudmila Verešpejová, Hana Malíková, Markéta Racková, Jan David

Čes-slov Pediat 2026, 81(2):104-108 | DOI: 10.55095/CSPediatrie2026/013

The differential diagnosis of cervical lymphadenopathy in children is broad, with infectious and benign causes accounting for the majority of cases. This makes it particularly challenging to recognize more serious or rare conditions. Kikuchi-Fujimoto disease, also known as histiocytic necrotizing lymphadenitis, is a rare, benign, and self-limiting disorder first described in the 1970s. It predominantly affects young adults and often mimics infectious or autoimmune conditions. Due to its rarity, Kikuchi-Fujimoto disease poses a diagnostic challenge in the paediatric population. In this case report, we present the clinical course, diagnostic process and therapeutic considerations in a paediatric patient diagnosed with this uncommon condition.

Case report of a patient with Prader-Willi-like syndrome with 6q16.1-16.3 microdeletion

Jarmila Vojtková, Alena Szökeová, Anna Ďurdíková, Terézia Kráľová, Adam Markocsy, Dominika Dvorská, Peter Ďurdík, Miloš Jeseňák

Čes-slov Pediat 2026, 81(1):43-47 | DOI: 10.55095/CSPediatrie2025/053

Prader-Willi-like syndrome includes a genetically heterogeneous group of syndromes with a phenotype partially similar to patients with Prader-Willi syndrome. These include hypotonia, delayed psychomotor development, some endocrinopathies or diseases of other organ systems. The authors present a case report of a girl diagnosed with a 6q16.1-16.3 microdeletion, which belongs to the Prader-Willi-like syndrome group. The clinical picture was dominated by global hypotonic syndrome, psychomotor retardation and, from the age of 18 months, a gradual increase in body weight relative to the current body height. At the age of 4 years, her body height was 94.9 cm (-2.1SD) and growth hormone deficiency was confirmed in two stimulation tests. Growth hormone therapy was initiated, which is beneficial not only in terms of growth gains, but also in terms of muscle mass formation and improvement of gross motor skills. Patients with Prader-Willi-like syndrome require a multidisciplinary approach and monitoring by several specialists according to specific clinical symptoms.

Gastroesophageal reflux in infants

Jana Tomanová, Rita Halašová, Vanda Mečiarová, Jan Melek

Čes-slov Pediat 2026, 81(2):67-70 | DOI: 10.55095/CSPediatrie2026/008

Gastroesophageal reflux (GER) in infants is, in the majority of cases, a physiological phenomenon that resolves spontaneously. The cornerstone of diagnosis is a careful medical history and physical examination, with particular attention to excluding alarm signs that may indicate gastroesophageal reflux disease (GERD) or another underlying condition. The vast majority of infants without alarm features thrive well and do not de velop respiratory or neurological complications. The mainstay of management consists of parental education combined with conservative measures (avoiding overfeeding, continuing breastfeeding, and thickening feeds). If these measures are insufficiently effective, an extensively hydrolyzed formula or, if appropriate, an amino acid-based formula may be used for 2-4 weeks, considering the possible presence of cow's milk protein allergy. Proton pump inhibitors (PPIs) are being prescribed with increasing frequency in the pediatric population, and their use as part of "reflux treatment" in infants is rising. However, current evidence does not demonstrate the effectiveness of PPIs in reducing nonspecific symptoms such as irritability or crying, while the risk of adverse effects is significant. In infants treated with PPIs, an increased risk of dysbiosis, gastrointestinal and respiratory infections, impaired mineral absorption, disruption of bone metabolism, and a higher incidence of allergic diseases has been reported. Therefore, expert recommendations emphasize that PPIs should be indicated only for clearly defined conditions, particularly erosive esophagitis and objectively confirmed GERD. Initiation of this therapy should always be preceded by a comprehensive evaluation of the infant by a specialist. The use of prokinetic agents in infants with GER or GERD is not routinely recommended.

A very unusual cause of abdominal pain

Case Histories

Petr Birke, Jakub Čivrný, Dagmar Pospíšilová

Čes-slov Pediat 2023, 78(1):26-29 | DOI: 10.55095/CSPediatrie2023/004

The case report deals with 16-year-old girl examined for abdominal pain who was diagnosed with thrombosis of the left iliac veins and inferior vena cava connected to femoropopliteal thrombosis. Her condition was complicated by the development of pulmonary embolism. The patient was treated with low-molecular-weight heparin followed by oral anticoagulation vitamin K agonist and local thrombolysis wi th the insertion of caval filter.

48 years of interventional treatment of cardiovascular diseases at the Children's Heart Centre

Václav Chaloupecký

Čes-slov Pediat 2025, 80(3):127-131 | DOI: 10.55095/CSPediatrie2025/014

This review article summarizes the early and long-term results of interventional treatment of congenital heart disease (CHD) at the Children's Heart Centre. Between 1977 and 2024, a total of 7,027 interventional cardiac catheterizations and 17,182 cardiac surgeries, including 43 heart transplants, were performed in 19,120 individuals, of whom 17,323 (90.6%) had congenital heart disease and 1,797 (9.4%) had primary dysrhythmias and/or acquired heart disease. Early postoperative mortality has been around 1% over the last 20 years. Long-term prognosis was evaluated in 13,348 children with CHD born between 1978 and 2020, who underwent a total of 14,408 cardiac surgeries and 4,565 interventional cardiac catheterizations during the same time period. The probability of survival at 10, 20, 30 and 40 years after the first intervention was 84.8%, 82.5%, 79.4% and 77.7% in the group of 4,419 individuals with complex CHD and 96.2%, 95.1%, 93.9% and 91.9% in the group of 8,929 individuals with other CHD (HR 3.8: CI 3.4 4.3; p < 0.001). At the end of year 2020, a total of 5,915 children and 6,263 adults were alive after cardiovascular intervention at the Children's Heart Centre, of whom 1,868 (31.6%) children and 1,796 (28.7%) adults had complex CHD. Conclusion. In the population of the Czech Republic, the number of adults with complex congenital heart disease after cardiovascular interventions in childhood is increasing. Dispensing and follow-up of these individuals in specialized centers for adults with congenital heart disease are essential.

Intentional self-poisoning in Czech adolescents from 2011 to 2024: multiplicated incidence, changing spectrum of misused substances, and the impact of COVID-19 pandemic

Jan Lebl, Barbora Jírová, Filip Jeřábek, David Viktora

Čes-slov Pediat 2025, 80(6):280-285 | DOI: 10.55095/CSPediatrie2025/057

Pediatric inpatient wards in the Czech Republic and other countries are facing an increasing influx of adolescent patients with intentional self-poisoning (ISP). The aim of this retrospective analysis was to assess the incidence of ISP, the types of substances used, patient age, and seasonality among those acutely hospitalized at the Department of Pediatrics, Motol University Hospital, over a 14-year period. Between 2011 and 2024, a total of 1,038 patients were admitted due to ISP (807 girls and 231 boys; sex difference p < 0.0001). The annual number increased from 21 cases in 2011 to 197 in 2024. The predominance of girls became particularly evident from the pandemic years 2020–2021, when the steepest annual rise occurred and has since persisted. The proportion of ISP-related admissions among all hospitalized rose from 0.5–0.6% (2011–2014) to 3.6% (2024). Prescription medications—most often the patient’s own—were the leading cause (326 cases), followed by alcohol (191), combinations of drugs available at home (185), over-the-counter medications, mainly paracetamol (178), and illicit drugs (84). Among boys, the highest proportions of ISP were caused by alcohol (32%) and illicit drugs (16%), whereas among girls by their own prescribed medication (32%), analgesics/antipyretics (19%), and combinations of drugs (18%). The age at the time of ISP and the place of residence (Prague/outside Prague) remained unchanged. Over the study period, the previously observed protective effect of summer school holidays diminished, which may indicate a shift in the motivation behind ISP—from school-related stress toward other contributing factors. The analysis of these trends may provide a basis for strengthening adolescent mental health care at the population level and for developing targeted prevention of risk behaviors.

How do premature Czech children grow in the first two years of life and how can their growth be assessed in a quality way?

Hana Kosek Krásničanová, Jana Tuková, Marie Hladíková, Jiří Helmich, Daniela Marková

Čes-slov Pediat 2025, 80(6):310-315 | DOI: 10.55095/CSPediatrie2025/012

Preterm infants are a large specific paediatric subpopulation whose numbers have grown significantly in recent decades. Prematurity is a clinical syndrome of its kind, where a crucial approach is to monitor auxological parameters that are an exact correlate of the well-being of individuals of all pediatric age groups. Deterioration of auxological parameters is the predominant manifestation of many serious clinical conditions, and detection of growth alterations is thus an essential part of the care of high-risk individuals born prematurely. Routine assessment of auxological status generally benefits more from precise dynamic evaluation of normalized auxological data over time than from "cut-offs" of centiles (e.g., 3rd line). The ideal tool for this necessary monitoring is using software optimally designed using recent reference data for a given population. We present representative reference auxological characteristics of Czech boys and girls born before 37th weeks gestational age, created for two weight cohorts for both sexes (birth weight > and ≤ 1500 grams). Baseline auxological data of 1781 boys and girls from 40th to 144th week postmenstrual age (= 2 years corrected age) became the basis of the now freely distributed Nerost software, which provides instantaneous exact and graphical assessment of body length, body weight, weight-length relationship and fronto-occipital circumference.

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 , with pathogenic variants in the RNU4-2 gene estimated to cause approximately 0.4% of all neurodevelopmental disorders. This gene does not encode a protein but rather a small nuclear RNA U4, which means its sequence is not captured by standard whole-exome sequencing or targeted sequencing panels. As a result, its significance remained overlooked until 2024. The case of ReNU syndrome highlights the importance of whole-genome sequencing, which covers non-coding regions of the genome, in the diagnosis of rare genetic disorders. It also demonstrates how the implementation of modern genomic methods can help end the diagnostic odyssey for patients with previously unexplained neurodevelopmental disorders.

Perspectives on artificial intelligence in clinical microbiology

Jakub Hurych, Pavel Dřevínek

Čes-slov Pediat 2025, 80(5):231-234 | DOI: 10.55095/CSPediatrie2025/044

Artificial intelligence (AI) has recently emerged as a revolutionary tool with the potential to fundamentally transform the operation of clinical microbiology laboratories. With its ability to automate routine tasks, analyze complex data sets, and recognize patterns often missed by the human eye, AI can significantly contribute to greater efficiency, standardization, and accuracy in laboratory diagnostics. One of the key application areas is image data analysis-whether it involves interpreting microscopic smears (e.g., Gram staining) or digital reading of culture plates, where algorithms identify colonies, estimate their number, color, and morphology, thus supporting timely pathogen detection. AI also enhances workflows in molecular microbiology, for example, by evaluating PCR amplification curves or sequencing data. Increasingly, AI is being integrated into automated laboratory systems that combine robotic sample handling with digital imaging and algorithmic interpretation. In the context of antimicrobial resistance (AMR), AI is used to analyze large datasets of antibiograms and genomic data to identify resistance patterns, predict clinical outcomes, and support decision-making regarding antibiotic therapy. Clinical decision support systems (CDSS) integrate laboratory results with clinical information, offering a more personalized approach to antimicrobial treatment. However, the implementation of AI comes with several challenges-including the need for standardized training datasets, algorithm validation, and ensuring explainability for end-users. A key benefit remains the ability of AI to relieve microbiologists from repetitive manual work, enabling them to focus more on expert interpretation and consultative activities-precisely where their expertise delivers the highest added value.

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 end-stages of severe pulmonary and sometimes non-pulmonary illnesses, but there are known pathologies such as bronchopulmonary dysplasia or neuroendocrine cell hyperplasia of infancy where the patient is expected to spontaneously wean of oxygen. This review is the first of two articles presenting LTOT in the Czech Republic. The primary focus of this review is to briefly present the pathophysiological mechanisms leading to hypoxemia and to explain the suitability of oxygen therapy based on this knowledge. It then briefly outlines options for detecting hypoxemia in children and the long-term impact of hypoxemia on the children's body and health. Moreover, the review discusses the most common diagnoses indicated and potentially treatable by LTOT.

Country-wide register of pediatric growth hormone treatment recipients REPAR - a 2025 report

Aneta Kodytková, Jan Lebl, Stanislava Koloušková, skupina pro růstový hormon v pediatrii České endokrinologické společnosti*

Čes-slov Pediat 2025, 80(90):39-44 | DOI: 10.55095/CSPediatrie2025/051

Since 2014, the Czech national registry REPAR has been collecting longitudinal data on patients treated with somatropin (recombinant human growth hormone; rhGH), and since 2023 also with long-acting growth hormone analogue somatrogon (Ngenla ®). Additionally, data from previous international database systems since 1992 have been incorporated into this registry - thus, it represents a nearly complete collection of patients receiving growth hormone in the Czech Republic since the initiation of rhGH administration. As of January 1st, 2025, the paediatric module of REPAR registry contained data on 6009 children and adolescents, of these 3421 were reported directly to REPAR, and 2588 converted from earlier registries. The count of currently treated patients is 2289 (1414 boys; 875 girls) in seven approved indications - growth hormone deficiency (n=1101); small for gestational age with persistent short stature in childhood (n=765); Turner syndrome (n=114); Prader-Willi syndrome (n=64); SHOX deficiency (n=53); Noonan syndrome (n=129); chronic kidney disease (n=21); and other or unspecified condition (n=43). Therapy was newly initiated in 335 paediatric patients within the year 2024. Median age at treatment onset was 5.4 years (P5-95: 0,5; 13,2). The REPAR registry is a valuable data source to analyse efficacy and safety of growth hormone therapy.

The role of a pediatrician in vaccinating the pregnant

Hana Cabrnochová

Čes-slov Pediat 2025, 80(Suppl.1):14-18 | DOI: 10.55095/CSPediatrie2025/021

The benefits of vaccinating pregnant women clearly outweigh the risks that threaten both mother and child if they fall ill with an infectious disease. Vaccination during pregnancy is beneficial not only for the mother, but also for the newborn, who receives protection from the mother through maternal antibodies. Newborns and infants are thus protected until they are vaccinated themselves. Vaccination against influenza, pertussis, covid-19 and respiratory syncytial virus (RSV) infection is indicated for all pregnant women. Influenza vaccination effectively prevents infection in pregnant women as well as in their newborns and infants through the transmission of maternal antibodies. All women should be vaccinated against influenza during every pregnancy in order to protect the woman, pregnancy and child in the first months of life. Pregnant women should also be vaccinated with the covid-19 vaccine for that season during any trimester of pregnancy, regardless of gestational age. Like the flu vaccine, vaccination protects both the pregnant woman and her baby. The timing of vaccination can be adapted to the current situation of community spread of the SARS CoV 2 virus in the population. Vaccination against pertussis during pregnancy reduces the risk of the disease for the pregnant woman, but above all it effectively protects the child in the first months of life. After birth, the child is protected by maternal antibodies against a severe course of the disease during the most critical period of the first two months of life, when it cannot yet be vaccinated. In the case of RSV vaccination, the vaccinated woman is actively immunized and newborns and infants are also passively immunized and can receive protection against RSV infection from birth until 6 months of age. The pediatrician, who will become the future registering physician and who may also take care of siblings, should be one of those who explains the risks of specific diseases and may even be involved in the vaccination of pregnant women. Thanks to the possible sharing of data on vaccinations performed in the electronic system from 2023, the argument of unavailable information in the case of vaccination for other healthcare professionals is eliminated.

Diagnostic methods in hypoxic-ischemic encephalopathy of newborns

Eva Štěpánová, Hana Wiedermannová, David Krahulík, Pavla Hanzlíková

Čes-slov Pediat 2025, 80(1):20-25 | DOI: 10.55095/CSPediatrie2025/003

Hypoxic-ischemic encephalopathy (HIE) is the most serious cause of neonatal morbidity and mortality; it involves damage to the brain of a full-term newborn; in premature infants, it occurs in the form of periventricular leukomalacia. The incidence of HIE is approximately 1-3 per 1000 live births worldwide. The most severe forms of HIE, according to some sources, represent up to a 60 % risk of death, therefore rapid and timely diagnosis, especially of moderate to severe forms, early transport to a perinatological center and indication of therapeutic hypothermia can mitigate and predict the consequences of asphyxiation damage. This communication aims to create an overview of current diagnostic option for HIE, especially imaging methods focusing on magnetic resonance imaging.

Typy domácí oxygenoterapie a přístroje pro dlouhodobou domácí oxygenoterapii, indikační kritéria, postup při preskripci a monitorování dětských pacientů na dlouhodobé domácí oxygenoterapii

Tereza Holeček Krištofová, Václav Koucký, Petr Pohunek

Čes-slov Pediat 2024, 79(4):202-207 | DOI: 10.55095/CSPediatrie2024/034

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. This review represents the second one of two articles on long-term home oxygen therapy (LTOT) in the Czech Republic, with a focus on the indication criteria for home oxygen therapy in children with chronic respiratory conditions. The review outlines the criteria based on the practice guidelines of the American Thoracic Society (ATS) and the British Thoracic Society (BTS), as well as specific indication criteria in the Czech Republic recommended by health insurance co mpanies. Additionally, the review addresses practical aspects of LTOT, including the types of home oxygen devices, at-home patient follow-up, and indications for weaning off LTOT.

50 years of newborn screening for phenylketonuria

Renata Tyčová

Čes-slov Pediat 2025, 80(4):169-172 | DOI: 10.55095/CSPediatrie2025/028

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