Acute lymphoblastic leukemia is a malignant blood cancer primarily affecting children and adolescents. Traditionally, acute lymphoblastic leukemia treatment has relied on chemotherapy, but recent advances in immunotherapy have shown substantial potential for improving outcomes and reducing toxicity. This article explores the evolution of acute lymphoblastic leukemia treatment, with a particular focus on immunotherapeutic approaches such as bispecific antibodies (blinatumomab), antibody-drug conjugates (inotuzumab ozogamicin), and chimeric antigen receptor (CAR) T-cell therapy. These immunologic constructs have demonstrated promising results in improving survival rates and minimal residual disease negativity in acute lymphoblastic leukemia patients. The mechanisms of action, clinical applications, and limitations of these immunotherapies are discussed emphasizing their role in shaping a new era in acute lymphoblastic leukemia management.

The article provides a detailed examination of the pathogenic mechanisms underlying pulmonary vein stenosis in premature infants, including the influence of bronchopulmonary dysplasia and pulmonary hypertension. Special attention is given to the prevalence of the disease in this patient group and the analysis of risk factors such as prematurity, low birth weight, prolonged mechanical ventilation, and oxygen therapy, as well as their impact on clinical outcomes. The key morphological changes are described, including vascular wall remodeling, alveolar simplification, and inflammatory processes, all of which underlie the development of pulmonary vein stenosis. The importance of early disease detection is emphasized, as delayed diagnosis can lead to progressive deterioration in the patient's condition, including right ventricular failure and a significantly increased risk of mortality. The article also discusses modern diagnostic methods, highlighting the primary role of transthoracic echocardiography as the method of choice, along with its advantages and limitations. For complex cases, the use of additional methods, such as computed tomography, magnetic resonance imaging, or cardiac catheterization, is recommended to clarify the severity of stenosis and assess the condition of the pulmonary veins.

The increased incidence of inflammatory bowel diseases is closely related to the transition of the world’s population to the Western model of nutrition, which is characterized by high consumption of processed and refined foods, red meat, sugar, saturated and trans fats, and reduced consumption of fruits, vegetables and dietary fiber. Thus, a diet high in sugars contributes to the development of inflammatory bowel diseases, causing significant changes in the composition of the intestinal microbiome and immune responses in the mucous membrane, as well as increased formation of reactive oxygen species, which disrupts the function of the intestinal barrier and promotes inflammation. A high-fat diet alters the diversity of the intestinal microbiota due to colonization of the intestine by adhesive-invasive bacterial strains and causes low-intensity inflammation in the intestinal wall, affecting the function of proteins of the dense contacts of the mucous membrane, disrupting the barrier function of the intestine. The results obtained emphasize the need for targeted nutrition interventions that will benefit patients with inflammatory bowel diseases. The integration of diet therapy with traditional drug treatment can optimize a comprehensive approach to the treatment of patients with inflammatory bowel diseases.

Alagille syndrome is a disease with a predominantly autosomal dominant type of inheritance, characterized by multisystem damage caused by mutations in the JAG1 and NOTCH2 genes. The most common manifestations of this syndrome are intrahepatic cholestasis due to underdevelopment of the bile ducts, heart defects, maxillofacial dysmorphism, vertebral pathology — radiographically manifested as “butterfly vertebrae”, ophthalmological disorders, vascular anomalies and kidney pathology. In addition to the above, a violation of neuropsychic and physical development is significant. The use of high-tech diagnostic methods in the observation of such children allows us to identify rare disorders that require equally close monitoring by doctors of a multidisciplinary team. The presented article is devoted to modern approaches to the management of children with Alagille syndrome, emphasizing variability of clinical manifestations, diagnostic features and new targeted drugs for the treatment of patients with this disease.

Limb reduction defects are a common and diverse group of congenital defects, including different types of limb shortening. However, the epidemiology of this group of defects in the Russian Federation has not been studied, and their population frequencies are unknown both in the Russian Federation as a whole and in individual regions. At the same time, knowledge of the epidemiological characteristics of defects is important and necessary for studying their causes, as well as for planning preventive measures. The data of the combined database of epidemiological monitoring of congenital malformations served as the material for determining the population characteristics of limb reduction defects. The article presents data from 27 regional registries of congenital malformations for the period from 2011 to 2023. The total number of cases of reduction malformations of the limbs was 3005, the frequency was 4.93 per 10,000 births. Interregional differences in frequencies were revealed, ranging from 1.88 to 7.35 per 10,000 births. The dynamics of the level of reduction malformations in the regions for the period 2011–2023 were stable. For defects of this group, a predominance of males among those affected was found in the ratio of 1.4M: 1F, as well as more frequent lesions of the upper limbs. Risk factors for the occurrence of the defect include male gender, low birth weight, maternal age over 35 years and first birth.

Respiratory distress syndrome, caused by surfactant deficiency, poses a significant threat to the health and life of preterm infants. Modern respiratory support strategies aim to minimize invasiveness; however, the selection of the optimal method remains the subject of ongoing research. The objective of this study was to conduct a comparative analysis of two approaches to non-invasive respiratory support—high-frequency oscillatory ventilation (NHFOV) and nasal continuous positive airway pressure (NCPAP)— in the treatment of respiratory distress syndrome in preterm infants.

Materials and Methods. The study included 62 preterm infants (gestational age 30–36 weeks) diagnosed with respiratory distress syndrome. Patients were randomly assigned to two groups: the first group received NHFOV therapy, and the second group received NCPAP. Parameters such as the duration of respiratory support, degree of respiratory failure according to the Silverman score, need for endotracheal intubation, and the frequency of complications were assessed.

Results. The NHFOV group showed a significant reduction in the duration of respiratory support (p<0.001) and a more pronounced decrease in the Silverman score by the end of the therapy (p<0.05) compared to the NCPAP group. Both methods showed similar complication rates, including nasal mucosal injuries.

Conclusion. The results confirm the high effectiveness of NHFOV as an alternative method of non-invasive lung ventilation for respiratory distress syndrome in preterm infants. The use of NHFOV allows for a reduction in the duration of respiratory therapy and improvement in clinical outcomes without increasing the risk of complications.

Among the consequences of perinatal damage of the central nervous system in the first year of life, the most frequently detected are motor disorders in the form of impaired motor development and developing cerebral palsy. At the stage of mastering the first antigravity poses in infants with impaired motor development and cerebral palsy, there is a violation of postural control, the features of which in infants with motor disorders have not been sufficiently studied. Purpose. To identify the features of postural control indicators in the postneonatal period in infants with impaired motor development and developing cerebral palsy.

Materials and methods. 164 children of the first year of life were examined, among them 146 children of different gestational ages with the consequences of perinatal brain damage in the form of motor disorders (main group — B) and 18 full-term children without neurological pathology (control group — A). In a retrospective analysis conducted at the age of 1 year, patients of the main group were divided into 2 subgroups depending on the outcomes of motor disorders: the B1 subgroup (n = 120) consisted of children with impaired motor development, the B2 (n = 26) — patients with cerebral palsy. The examination included an assessment of the neurological status, a clinical assessment of postural control and computer stabilometry.

Results. Clinical assessment of postural control showed a violation of all its types (static, active and reactive) in infants of the studied subgroups, while the severity of violations of the active and reactive types of postural control was higher in patients with developing cerebral palsy. The results of computer stabilometry also showed a greater severity of postural control disorders in patients with cerebral palsy. Conclusion. The revealed features of the postural control indicators in patients of the studied subgroups can be used to develop new objective criteria for diagnosing impaired motor development disorders and developing cerebral palsy.

The group of chronic non-specific lung diseases in children has not yet been sufficiently studied in terms of their impact on mental development, with the exception of bronchial asthma, for which there are a number of studies in the context of psychosomatic disorders. Meanwhile, the use of a neuropsychological approach in conducting topical psychological diagnostics in children may also be of practical importance from the point of view of choosing the directions of differentiated psychological correction. 

The aim of the study: to determine the nature of neuropsychological disorders in children with primary ciliary dyskinesia in comparison with patients with bronchial asthma.

Materials and methods. The work was carried out at the Pulmonology Department of the Veltischev Institute and at the Department of Innovative Pediatrics and Pediatric Surgery of the Pirogov University of the Ministry of Health of the Russian Federation. The study included 60 children with chronic non-specific lung diseases, divided into 2 groups: Group 1 (main) (n=30) — children suffering from primary ciliary dyskinesia (6 girls and 24 boys); Group 2 (comparison) (n=30) — children suffering from bronchial asthma (16 girls and 14 boys). The age of the examined children was (group 1/2): 6–8 years — 6/4; 9–12 years — 13/11; 13–17 years — 11/15 people. All children underwent a comprehensive assessment of the state of higher mental functions using the neuropsychological research method developed by A.R. Luria. Statistical data processing was performed using the Statistics software package SPSS.

Results. During the study, a number of differences were identified in children: in primary ciliary dyskinesia, there was topical insufficiency of the right hemisphere of the brain, while bronchial asthma is characterized by an increase in the functional state of the left hemisphere.

Conclusions. Children with bronchial asthma are generally characterized by increased functional activity of the left hemisphere. Children with primary ciliary dyskinesia have a deficit in the holistic strategy of information processing, which is the prerogative of the right hemisphere. This may have practical significance in developing individual programs of neuropsychological correctional and developmental training.

The KDIGO 2024 Clinical Practice Guideline for the Evaluation and Management of Chronic Kidney Disease presents three validated equations for estimating glomerular filtration rate in children and adolescents: CKiD U25, EFKC, and CKD-EPI40. Study objective. Determine the clinical significance of using the CKiD U25 equation instead of the Bedside Schwartz equation to calculate glomerular filtration rate in adolescents.

Materials and methods. Single-center, cross-sectional study based on a 10–year regional register of 17–year-olds. Glomerular filtration rate was calculated using the Bedside Schwartz, CKiD U25 and CKD-EPI equations.

Results. Calculating glomerular filtration rate for 17–year-olds using the CKiD U25 and Bedside Schwartz equations yielded the following results: 94 [81.5; 107] and 85 [75; 99] ml/min/1.73 m², respectively. The median of differences was +16.3 ml/min/1.73 m² for males and —0.7 ml/min/1.73 m² for females. These differences resulted in a change in the glomerular filtration rate category for 44.7% (208/465) boys and 2.6% (11/428) girls. Using the CKiD U25 equation decreased estimated glomerular filtration rate differences during the switch to CKD-EPI in males from 36.8 to 19.4 ml/min/1.73 m² and increased them in females from 21.9 to 22.95 ml/min/1.73 m². When switching from the Bedside Schwartz equation to the CKD-EPI equation at the age of 18, the glomerular filtration rate category changed for 55.8% (498/893) patients; from the CKiD U25 equation to the CKD-EPI equation for 33.9% (303/893) patients. Comparison of glomerular filtration rate based on CKiD U25 and CKD-EPI equations at age 25 years revealed differences in the glomerular filtration rate category in 25.8% (230/893) of patients.

Conclusions. Using the CKiD U25 equation instead of the Bedside Schwartz equation in 17–year-olds leads to a clinically significant change in estimated glomerular filtration rate only in males. The advantage of this equation is that it reduces the risk of misclassification of glomerular filtration rate category (G1–G5) for patients transitioning to an adult healthcare system that uses the CKD-EPI equation.

Against the background of the COVID-19 pandemic, an increase in the total proportion of viral diarrhea in the etiological structure of acute intestinal infections in children has been recorded. Currently, the differential diagnosis of COVID-19 with gastrointestinal syndrome and acute intestinal infections is difficult, which requires the development of an algorithm for their diagnosis, treatment and prediction of the risks of complications.

Objective. To evaluate the clinical and epidemiological features of diarrhea of  various etiologies during the COVID-19 pandemic in children hospitalized with COVID-19 with gastrointestinal symptoms.

Materials and methods. We examined 105 patients under 18 years old with COVID-19 and gastrointestinal syndrome. The examination included daily examination, laboratory tests to assess the clinical features of the course. Diagnosis of acute intestinal infections was carried out using PCR methods and bacteriological examination of feces. 

Results. Of 105 hospitalized patients diagnosed with COVID-19 with gastrointestinal syndrome, 57 (55%) had concomitant viral (41%) and bacterial (13.3%) intestinal infections. In the COVID-19 + viral infections group, a high rate of maximum frequency of vomiting per day was revealed (p=0.04). In the gastrointestinal form of COVID-19, as well as a combination of COVID-19 with bacterial intestinal infections, an increase in creatinine levels to 119 and 80 μmol / L was noted in 20.8% and 35.7% of patients, respectively (p=0.01). In the COVID-19 with bacterial intestinal infections group, 57.1% had a risk of developing acute kidney injury. The likelihood of developing the initial stage of acute kidney injury is higher in the COVID-19 with gastrointestinal syndrome group.

Conclusion. The obtained data indicate a frequent (30%) occurrence of gastrointestinal manifestations in COVID-19 in children. The course of the disease in groups of children with COVID-19 and gastrointestinal syndrome and COVID-19 with bacterial intestinal infections is complicated by the risk of developing acute kidney injury, which requires further research for early prediction of kidney damage and timely treatment.

Mucormycosis is a life-threatening, rare disease caused by the fibrous saprophytic fungus Mucorales of the zygomycetes group, which is more often pathogenic in immunocompromised individuals. The disease has a high mortality rate, but aggressive medical and surgical treatment can result in survival rates exceeding 80%. Depending on the organ affected, there are several main forms: rhino-cerebral, pulmonary, cutaneous, gastrointestinal and disseminated forms. The article is devoted to the analysis of a clinical case of a 15–year-old patient with type 1 diabetes mellitus with pulmonary form of mucormycosis. Emphasis is made on the most effective combination of therapy of mucormycosis with Amphoterecin B and Izavuconazole, nevertheless difficulties in diagnosis led to pneumonectomy. Due to the high mortality rate, physicians need to make correct and timely decisions regarding suspected cases to avoid misdiagnosis and untimely treatment.

ROHHAD is a poorly studied syndrome characterized by multisystem organ involvement and a high mortality rate. According to the literature, approximately 200 cases of this syndrome are known. ROHHAD syndrome has a presumably autoimmune mechanism of disease development, manifested by rapidly developing morbid obesity, hypothalamic dysfunction, apnea, and impaired autonomic regulation. The wide clinical variability of the syndrome complicates timely diagnosis. This article presents a clinical case of a 6-year-old girl with a rare ROHHAD syndrome and to demonstrate a set of the main clinical symptoms and diagnostic signs of the syndrome, as well as possible therapeutic approaches in the management of this life-threatening disease.

The article discusses various approaches to conducting medical consultations. This topic is extremely relevant in Russia, where a paternalistic approach traditionally prevails. Special attention is paid to pediatrics, where effective communication between the doctor and the patient/their parents is of critical importance. Research shows that partner-based and patient-centered approaches significantly increase the effectiveness of the treatment and diagnostic process and improve patient compliance. In this regard, the need to develop and implement specialized courses on patient communication skills in medical schools is emphasized, which will allow doctors to master practical skills in consulting and communication.

Alagille syndrome is a rare hereditary disease characterized by cholestasis syndrome due to bile duct hypoplasia. One of the frequent manifestations of cholestasis syndrome in Alagille syndrome is severe pruritus, which significantly reduces the quality of life. Existing standard approaches to antipruritic therapy, including ursodeoxycholic acid, bile acid sequestrants, rifampicin, anxiolytics, etc., is not effective enough. Currently, bile acid transport inhibitors (IBAT), such as maralixibat, which prevents enterohepatic bile acids recirculation and, as a result, reduces it’s blood concentration, which leads to a decrease of pruritus, are actively studied and introduced into therapy.

Methods: the study included 12 patients with Alagille syndrome (age 53.83±48.23 months). All children had severe pruritus and > four-fold increase of serum bile acid. Cholestatic pruritus was assessed by patients’ parents using the IthRo scale (0–4 points).

Results: One patient did not continue participation in the study after the drug prescription, 11 patients received maralixibat for ≥12 weeks, 7 for > 48 weeks. By week 12,86%, had a decrease of blood serum bile acid >50%, and by week 48 >three-fold decrease in blood serum bile acid concentrations. Pruritus severity decreased by ≥2 points by week 4 of therapy in 9(82%) patients. By week 48, pruritus intensity did not exceed 1.17 points (95% CI 0.38–1.96) in 5 of 7 patients. One patient, failed to achieve the reduction in pruritus, but double dose of the maralixibat at week 36 resulted in a reduction in pruritus score to 1 point on the ItchRo scale by week 48.

Conclusions: this study demonstrates the high efficacy of bile acid transport inhibitor in the treatment of cholestatic pruritus in patients with Alagille syndrome.