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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.

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.

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.

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.

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.

The review about the autism spectrum disorders includes the recent knowledges about their prevalence, etiopathogenesis and a description of their clinical findings. It gives the basic attributes about diagnosis, course, prognosis and the overview of the PAS therapy. It mentions the key role of pediatricians, highlighting their ability to identify early signs, symptoms and to provide an early diagnostics.

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.

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 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

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.

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.

Dermatologists as well as pediatricians are well aware that , due to its structural characteristics, the skin of infants and young children is prone to blister formation. Consequently, all of us encounter bullous conditions frequently (friction blisters, burns, solar dermatitis, bullous impetigo, diseases caused by herpes simplex virus or varicella-zoster virus). However, there are severe bullous disorders that are rare in childhood (autoimmune bullous diseases or certain genodermatoses), in which establishing the diagnosis requires extensive experience and expertise. In this presentation, the author introduces four rare bullous diseases and their clinical course in pediatric patients followed long term.

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.

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.

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.

Aim: Contrast-enhanced ultrasound (CEUS) is a novel diagnostic method that enables dynamic imaging of tissues in real time with recording characteristic pattern of bearing contrast agent in liver lesion. The aim of the authors is to point out the importance of this imaging modality in the differential diagnosis of liver tumors in newborns through the presentation of two case reports. Methodology: After intravenous application of microbubble contrast agent with exclusively intravascular distribution the si gnal intensity is recorded in the individual phases of the examination in liver lesion and its surroundings. During the arterial phase the vascularization of the lesion is evaluated, in the portal and late phase is possible to specify the dignity of the liver lesion more precisely. Results: Two newborns with liver tumors underwent CEUS examination with the aim of closer characterization of the le sion. Based on the CEUS in these newborns were diagnosed hemangioma and hepatoblastoma. We did not observe any adverse effects related to the intravenous administration of the contrast agent. Conclusion: According to our expiriences so far is CEUS a suitable diagnostic method in differential diagnosis of liver tumors also at patients of neonatal age. Realization and interpretation of results reguire trained medical staff.

Gillespie syndrome is an extremely rare genetic disorder characterized by a triad of symptoms: non-progressive cerebellar ataxia, partial aniridia, and psychomotor delay. The incidence of this disease is extremely low, with a prevalence of less than 1:1,000,000 live births. The syndrome is associated with pathogenic variants in the ITPR1 gene, which is responsible for the regulation of calcium channels in cells. In this paper, we present the case of a 5-year-old boy diagnosed with Gillespie syndrome. The 5-year-old boy was referred for an eye examination due to the finding of "big pupils". The first symptoms appeared at the age of four months in the form of hypotonic episodes and tremors. Neurological examinations confirmed developmental delay, and ataxic gait. Upon ophthalmic examination, horizontal nystagmus and partial aniridia were present in both eyes, with a "scalloping" of the iris. Genetic testing revealed the variant c.7622T>C in a heterozygous state in the ITPR1 gene, which is a variant of unclear clinical significance but associated with Gillespie syndrome. Gillespie syndrome is a rare and non-progressive genetic disorder that primarily manifests as ocular and neurological abnormalities. The diagnosis is confirmed based on the clinical presentation and genetic testing. Treatment is supportive and focuses on symptom management.

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.

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.

Patients with inflammatory bowel diseases show significant differences in phenotypic manifestation as well as responses to treatment. Significant interindividual variability in therapeutic response has led in recent years to research initiatives aimed at identifying genetic markers capable of optimizing the treatment. For example, investigation of predictive markers of thiopurine-induced myelosupp ression has been implemented into clinical practice. On the other hand, markers related to new treatment options such as biological treatment are not yet used in common clinical practice. The article offers an overview of advances in the field of IBD pharmacogenetics, summarizes known pharmacogenetic markers as well as the candidate genes and their prospective use in the personalization of IBD treatment.

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), folates (measured by electrochemiluminescence immunoassay), serum MMA (measured by liquid chromatography-tandem mass spectrometry), tHcy (measured by high-performance liquid chromatography), and selected sulfur metabolites in both newborn and mother. We assess maternal markers of chronic gastritis. Results: As of 21 February 2024, we evaluated B₁₂ deficiency in 20,419 dry blood spots (86.1% of the samples collected). We identified 863 newborns with positive findings for at least one of the primary markers (2nd tier 4.2%). Overall, 6 newborns had elevated MMA levels, with 4 cases classified as true positivity, 1 false positivity, and 1 case indicating combined malonic/methylmalonic aciduria. In our preliminary results, the incidence of neonatal B₁₂ deficiency reached 1 : 5,105 (95% CI 1:1,994-1:8,735). Conclusion: Preliminary data from our study demonstrate the high incidence of neonatal B₁₂ deficiency in cooperating Prague maternity units. The results may serve as a scientific basis for NLS expansion in the Czech Republic.

Creatine kinase (CK) is an enzyme located in tissues with high energy demands, such as skeletal muscles or myocardium. It plays an essential role in cells' energy metabolism. The level of CK in the blood reflects the muscle membrane' s integrity, and elevated CK levels can indicate muscle damage. However, diagnosing the cause of elevated CK levels in children requires the expertise of an experience d pediatrician. This may be due to not only neuromuscular diseases but also a range of other diseases.

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.

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.

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.