Regional Children's Clinical Hospital No. 1

Atypical hemolytic-uremic syndrome (aHUS) is a serious problem in pediatrics and pediatric nephrology due to its severe course, tendency to progression, high mortality, and unresolved issues of early diagnosis and therapy. This circumstance dictates the need to improve existing diagnostic approaches and allows timely detection of aHUS and initiation of treatment at an early stage, which will significantly increase the chances of a favorable outcome. This publication presents 2 clinical cases of aHUS associated with antibodies to factor H in patient K., 4 years old, and patient U., 5 years old, who were treated at the state budgetary healthcare institution Children's Regional Clinical Hospital of the Ministry of Health of the Krasnodar Territory. Both children were admitted to the aHUS clinic, but genetic studies have not revealed mutations in specific genes associated with this disease. An increased titer of antibodies to factor H was found, which may indicate an acquired form of thrombotic microangiopathy. Positive dynamics was observed against the background of complement inhibitory therapy

Cystic fibrosis (CF) is a universal exocrine disorder that affects virtually all organs and systems containing exocrine glands. A genetic defect in the cystic fibrosis transmembrane conductance regulator gene leads to increased viscosity of exocrine gland secretions, primarily in the respiratory tract. CFTR modulators improve the synthesis, processing, and/or function of the defective CFTR protein, which is a chloride channel. Objective. To evaluate the efficacy of the generic drug ivacaftor + tezacaftor + elexacaftor/ivacaftor (trade name Trilexa®), in a group of patients not previously receiving triple targeted therapy after 3 months of treatment in patients who have not previously received the first threecomponent CFTR modulator. Methods. Data from the Russian CF Patient Registry, entered into the “Targeted Therapy” block, were analyzed for the period from January to August 2025 (main group) and for the period from January 2022 to August 2022 (comparison group). Two groups of patients were identified: Group 1 included 28 pediatric patients (12 boys/16 girls) with a confirmed diagnosis of cystic fibrosis, who started receiving triple targeted therapy generic drug ivacaftor + tezacaftor + elexacaftor/ivacaftor. Group 2, the comparison group, consisted of 34 pediatric patients (14 boys/20 girls) who started receiving the original triple targeted drug ivacaftor + tezacaftor + elexacaftor/ivacaftor (trade name Trikafta®). Results. When assessing the nutritional status, a significant increase in BMI was shown in both groups of patients at the start and after 3 months; p < 0.001. Sweat test parameters (conductivity in mmol/L) differed significantly both at the start of therapy and after a month in both groups. The difference between the average sweat test values (Δ mmol/L) in both groups were comparable and did not differ from each other. The groups did not differ in the number of adverse events, which were mild and did not lead to drug discontinuation. Both drugs, the original and the generic, demonstrated safety and good tolerability. Group 1 value was 43 (35.5; 55), and Group 2 value was 42 (32; 50.3); p = 0.86. FEV1 and FVC indicators showed a tendency to increase with both drugs, but it was not significant in both groups. Conclusion. The triple targeted therapy with the use of generic drug ivacaftor + tezacaftor + elexacaftor/ivacaftor is effective and safe in this sample of pediatric patients with cystic fibrosis. No significant differences were found between generic drug and the original drug in relation to the main efficacy criteria during 3 months of use. The frequency, spectrum, and severity of reported adverse events associated with the use of generic drug were comparable to those associated with the use of the original drug.

We present information on the principles of timely and adequate surgical treatment of duodenal injuries, which can be useful for clinical physicians. Duodenal injuries are relatively rare in clinical practice, which complicates the selection of an optimal surgical treatment method. The method of surgical intervention depends on the localization and extent of the identified injury. In this article, we describe a clinical case of multiple penetrating abdominal wounds, which resulted in multiple perforating injuries of the duodenum D 4 (OIS-III severity according to AIS-4) with subsequent necrosis. During the third operation, in the setting of peritonitis, duodenectomy with preservation of the pancreas head and the hepatopancreatic ampulla was performed. Anastomosis of the loop of the disconnected jejunum with the pancreatic and common bile duct on drains was performed with a favorable outcome. The selection of a surgical treatment method should be made by a surgeon on an individual basis.

Background: To address limitations in static cold storage (SCS) of donor hearts, we developed the High-Pressure Gaseous Perfusion without Fluidic Preservation Media (HIPPER) method, along with the necessary equipment for its application. Methods: 33 Wistar rat hearts were split into five groups: (Control) static cold storage (SCS) in HTK solution, (Exp) HIPPER using oxygen–xenon gas mixtures of varying ratios (“Gas-A”: 1/9, “Gas-B”: 9/1, and “Gas-C”: 1/1), and (Air) HIPPER using air. Hearts were preserved for six hours, followed by a one-hour Langendorff assessment. Results: Beating was restored in 4/10 Control hearts, 15/15 Exp hearts across all gas mixtures (p = 0.001 Control vs. Exp), and 6/8 Air hearts. Among resuscitated hearts, the mean heart rates (in bpm) were 131 ± 10 (Control), 164 ± 21 (Air), and 226 ± 13 (Exp) (p = 0.001 Control vs. Exp; p = 0.015 Exp vs. Air). The mean left ventricular pressures (in mmHg) were 31 ± 5 (Control), 45 ± 9 (Air), and 73 ± 7 (Exp) (p = 0.002 Control vs. Exp; p = 0.014 Exp vs. Air), with dP/dT max/min showing consistent trends (p < 0.006 Control vs. Exp and Air vs. Exp). Infarct size in Exp group was also significantly reduced, averaging 39.6 ± 6.6% (Control), 12.6 ± 3.3% (Air), and 6.3 ± 0.7% (Exp) of total myocardium area (p < 0.014 for Control vs. all). Conclusions: as evidenced by both quantitative and qualitative data, HIPPER consistently outperformed SCS following six hours of storage of rat heart regardless of the gas mixture, highlighting its potential as a more robust preservation method.

Meconium ileus presents a serious challenge in the newborn period, requiring timely diagnosis and effective management. New conservative curative modalities can improve outcomes and reduce the need for surgical interventions, especially in newborns. The article discusses a case of preterm newborn boy with meconium ileus diagnosed on the second day of his life. Water-soluble contrast on resistant starch and iopromide could resolve intestinal obstruction without any surgical intervention. Contrast passage lasted for 24 hours and was followed by spontaneous stool. No electrolyte disorders were detected during the manipulation. Enteral insufficiency was eliminated, and the child was discharged home on the 14th day of his life with positive weight dynamics. Irrigography showed no evidence of Hirschprung’s disease. Genetic examination confirmed that the child was a carrier of cystic fibrosis gene. Thus, water-soluble contrast with resistant starch is a new approach that can potentially improve the effectiveness of conservative treatment of meconium ileus in newborns. Resistant starch reduces systemic iodine exposure and improves bowel motility. The discussed technique is a valuable addition to the existing approaches in treating meconial ileus which allows to avoid surgical intervention and its associated risks. Further research and clinical experience will define optimal protocols on the application of the described technique and its place in the algorithm of diagnosis and treatment of meconium ileus in newborns.

Hypertensive disorders during pregnancy remain a leading cause of maternal and perinatal morbidity and mortality worldwide and represent a significant challenge in contemporary obstetrics. Despite advances in diagnostics, treatment, and screening programs, their prevalence continues to rise, driven by sociodemographic and medical factors such as higher maternal age and increasing rates of comorbidities. Aim: to analyze current scientific literature on the prevalence short-term and long-term outcomes of hypertensive disorders during pregnancy, with a particular focus on preeclampsia, and to identify promising strategies for prevention and postpartum follow-up in women affected by these complications. Materials and methods. A literature search was conducted in PubMed, Scopus, Web of Science, Medline, and UpToDate using the keywords: hypertensive disorders in pregnancy, gestational hypertension, preeclampsia, eclampsia, long-term outcomes, short-term outcomes, maternal cardiovascular risk, offspring, neurodevelopment, postpartum follow-up, cardiovascular prevention. Publications from 2020–2025 were prioritized. The review included systematic reviews, meta-analyses, cohort studies, and clinical guidelines. After exclusions, 70 publications meeting the criteria for relevance, evidence level, and clinical significance were analysed. Results. The review summarizes the main clinical forms of hypertensive disorders during pregnancy – gestational hypertension, preeclampsia, and eclampsia – and highlights an upward trend in prevalence, particularly for gestational hypertension. The impact of the COVID-19 pandemic on incidence patterns is noted. Reported long-term maternal consequences – including cardiovascular, metabolic, and neurological disorders – as well as for their children, who may experience neurodevelopmental and psycho-emotional disturbances. Conclusions. Hypertensive disorders during pregnancy carry substantial short- and long-term health risks for both mother and child. Women with a history of these conditions require structured postpartum follow-up and targeted preventive measures. Children born from such pregnancies may face elevated cardiovascular and neurodevelopmental risks, warranting ongoing monitoring. Implementation of early risk identification, patient education, and a multidisciplinary preventive approach is essential for reducing adverse outcomes.

The article presents a case of ultrasound diagnosis of torsion of an ectopic spleen in a 14-year-old girl who underwent surgery during the neonatal period for a left-sided congenital diaphragmatic hernia. The ultrasound findings of this extremely rare condition—manifesting clinically as an acute abdomen and requiring emergency surgical intervention—are described in detail. Attention is drawn to the key ultrasound signs that raised suspicion for this pathology and indicated the need for surgical treatment. The article emphasizes the importance of maintaining a high index of clinical suspicion for this uncommon developmental anomaly and highlights the crucial role of ultrasound examination in its diagnosis. A brief literature review is provided, addressing the developmental nature of the condition and the challenges of its preoperative diagnosis.

Neuromyelitis optica spectrum disorders (NMOSD, formerly known as opticoneuromyelitis or Devic's disease) are severe chronic autoimmune inflammatory diseases of the central nervous system (CNS) associated with high disability in the absence of adequate treatment. In Russia, no assessment of the medical and social characteristics of this disease and the quality of life of patients has been conducted, which complicates the assessment of the prognosis and the development of medical and social management strategies for these patients.Objective: to analyse the medical and social characteristics and quality of life of patients diagnosed with NMOSD (opticoneuromyelitis).Material and methods. The condition of patients with a confirmed diagnosis of NMOSD or opticoneuromyelitis was assessed using a specially designed questionnaire, which also included questions about patients' attitudes towards their health. The SF-36 international quality of life questionnaire was used to score quality of life. Based on the results of the study, 280 patients diagnosed with NMOSD were surveyed in 21 regions of the Russian Federation.Results. Most patients with NMOSD who are observed by neurologists receive specialised treatment, but half of all patients with NMOSD currently experience some difficulties in obtaining drug therapy. Over the past year, 28.6% of respondents reported an improvement in their health, 39.6% reported no change, and 31.8% reported a deterioration. Self-assessment of health status declines sharply in patients over 55 years of age. The majority (74%) of patients report a decline in vision. Every second patient noted a decrease in vision at the onset of the disease. Severe movement disorders are characteristic, and for the majority (91%) of patients with NMOSD, strenuous physical activities such as running and weight training are not possible. Patients with disability groups I or II are more limited in their physical and mental resources. Patients receiving treatment significantly better assess changes in their health over the past year, both physical and psychological. Those who receive specialized drug therapy have a much better perception of their own health and its prospects. The SF-36 quality of life indices for NMOSD are significantly lower than normal, primarily in terms of physical condition, but also in terms of psychological well-being.Conclusion. In NMOSD, there are pronounced changes in the quality of life of patients, both according to the original questionnaire and according to the SF-36 scale. Receiving timely and adequate treatment significantly improves these indicators and the prognosis.

Introduction. The study was driven by the prevalence of secondary progressive multiple sclerosis (SPMS) in Russia and the lack of data on siponimod in the real clinical practice (RCP).Aim. To collect and analyze data on the administration of siponimod in SPMS patients within Russia’s RCP as part of the EMBOSSES study (rEtrospective Multicenter oBservatiOnal Study Siponimod rEal-world Spms).Materials and methods. The study encompassed data of 606 SPMS patients from 11 centers who received siponimod for at least 6 months. The analysed data included demographic and clinical characteristics of patients, changes in the Expanded Disability Status Scale (EDSS) scores over time, percentage of patients with 6-month confirmed disability progression (6mCDP), annualized relapse rate (ARR) for MS, radiological signs of the disease activity and adverse events (AEs).Results. Among the study patients, women predominated (64.9%), while men accounted for 35.1%. The median age of patients was 49.5 (±8.9) years. 143 (23.6%) patients reported relapses during 2 years, whereas relapse-free SPMS was observed in 463 (76.4%) patients. The average EDSS scores remained stable, demonstrating minimal changes from 5.44 (±0.998) to 5.58 (±1.028) scores during the 2-year therapy. The percentage of patients free from 6mCDP was 85.5%. The KaplanMeier analysis revealed that 25% of patients achieved 6mCDP by Month 27 of therapy. The average ARR decreased from 0.14 to 0.032 at 12 months and remained low (0.062) after 2 years of treatment. The MRI showed a decrease in the percentage of patients with Gd+ T1 lesions to their complete absence over 2 years of therapy. Main AEs: lymphopenia, bradycardia, and elevated liver enzymes; serious AEs were observed in 3.3% of all cases.Conclusions. Siponimod demonstrated efficacy in controlling disability progression and inflammatory activity, as well as a favourable safety profile in patients with SPMS in the RCP setting. The results confirm the feasibility of using siponimod in patients with SPMS.