Widespread use of modern diagnostic imaging has increased the detection rate of non-parasitic cysts and polycystic liver disease. Advanced surgical techniques and various minimally invasive interventions have established a clear role in the treatment of this pathology. However, the lack of a standardized, universally accepted treatment algorithm makes it difficult for specialists to select the optimal method. Key criteria for an ideal technique, especially in polycystic liver disease, include therapeutic radicality and maximum preservation of healthy liver parenchyma. This article presents two clinical cases of successful treatment of non-parasitic cysts and polycystic liver disease using radiofrequency ablation (RFA). Follow-up observations demonstrated that RFA provided minimal surgical trauma and an absence of postoperative complications, leading to complete reduction of the operated cystic cavities within 2 to 2.5 years post-procedure.
Objective: To compare clinical outcomes between stent-assisted microvascular anastomosis and conventional manual suturing. Methods: This study evaluated 40 patients undergoing radical tumor resection and subsequent free flap reconstruction. The observation group (OG, n=20) underwent flap-to-recipient microvascular anastomosis using a stent-assisted technique. The control group (CG, n=20) received classical manual suturing. Flap transfers involved 20 arterial and 34 venous anastomoses in the OG, and 20 arterial and 32 venous anastomoses in the CG. Results: Flap survival rates showed no statistically significant difference between the two cohorts, reaching 85% in both groups. However, the OG demonstrated a highly significant, two-fold reduction in anastomotic time compared to the CG (p<0.001). Conclusion: Stent-assisted microvascular anastomosis is a highly viable surgical alternative. The technique significantly minimizes operative and ischemic times, reduces vascular trauma, and ensures precise, layer-by-layer anatomical alignment of the proximal and distal vessel walls.
Objective: This study aimed to evaluate the repeatability of a semi-quantitative digital growth metric for colony counting on sector plates and to determine its practical working range using a Candida albicans model. Methods: A 24-hour culture of C. albicans grown on meat-peptone agar was standardized to 0.5 McFarland units. Serial dilutions were prepared to achieve initial inoculum levels of 10⁰, 10², 10⁴, 10⁶, and 10⁸ CFU/mL. Sectoral seeding (100 µl) was performed on meat-peptone agar plates, followed by incubation at 37°C for 24 hours (three independent replicates per level). Digital counting was performed using automated image recognition with the Scan 500 automatic colony counter (software version 6.3.8.0; Interscience, Saint Nom-la-Bretèche, France) in "Total Count" mode with fixed processing parameters. Non-microbial artifacts were manually removed to ensure count accuracy. The primary dependent variable was the U-metric, defined as the operator-corrected number of recognized colonies. Results: The distributions of the U index differed significantly across initial load levels (Kruskal-Wallis H-test, p=0.012). Repeatability was range-dependent: low levels exhibited zero values and high variability (CV: 173.2% for 10⁰ and 102.4% for 10²), while the 10⁴-level showed minimal variance (CV: 6.1%). At high ranges, the relationship between the U-metric and nominal load was non-monotonic. The number of artifacts removed by the operator ranged from 0 to 99 per plate. Conclusion: The U-metric serves as a standardized digital count – combining fixed recognition settings with operator correction – suitable for "control vs. experiment" comparisons using a consistent protocol. For this specific model, the practical working range was approximately 10⁴ CFU/mL.
Objective: To investigate MRI and morphological changes in the subcortical tissues of the rat brain at different time points after exposure to a 2010-nm thulium fiber laser under experimental conditions. Methods: The study was conducted on 20 outbred rats weighing 180-200 g. The animals were divided into four groups of five rats each. Stereotactic laser ablation was performed in the projection of the right parietal lobe using a power output of 5 W and an energy setting of 10 J. Histological examination was carried out in groups 1-4 on day 1 (immediately after ablation, Group 1), day 3 (Group 2), day 7 (Group 3), and day 30 (Group 4) after the procedure. In addition, magnetic resonance imaging (MRI) in the T2 PROPELLER sequence was performed in Group 4 on day 1 (immediately after ablation), day 3, day 7, and day 30 following ablation. Results: MRI demonstrated that immediately after ablation, the central lesion area was almost isointense to the contralateral hemisphere (CH, used as the reference value of 1.0); relative signal intensity (RSI) of the central lesion area was 1.01 [0.84-1.06], while the peripheral area exhibited reduced RSI – 0.79 [0.73-0.95]. On days 3, 7, and 30, an increase in RSI of the lesion area compared to the first day after ablation was observed: 1.88 [1.70; 1.94], 1.92 [1.76; 1.98], and 2.82 [2.68; 2.86], respectively (p=0.001), whereas RSI in the peripheral zone decreased: 0.93 [0.86; 1.11], 0.96 [0.89; 1.14], and 0.88 [0.80; 1.11], respectively (р>0.05). The lesion size, according to MRI, increased on days 3 and 7 to 4.79 [3.46; 5.24] mm² and 4.63 [4.01; 4.83] mm², respectively. By day 30, it decreased to 4.03 [2.72; 4.46] mm². No statistically significant differences in lesion size were found between the observation time points (p=0.0351). Morphological examination of rats immediately after ablation revealed primarily mechanical damage to brain tissue, along with moderate ischemic changes and developing micronecroses. On day 3, edema was pronounced, with large foci of necrosis predominated. On day 7, a cystic cavity with moderate macrophage infiltration formed in the center of the post-radiation zone. On day 30, a pseudocyst was formed; signs of neoangiogenesis and mildly expressed granulation tissue were detected, indicating the onset of reparative processes in brain tissue. Conclusion: Exposure of brain tissue to 2010-nm laser irradiation results in a sequential progression of morphological phases, from ischemic-necrotic injury to the formation of a well-demarcated pseudocyst accompanied by reparative changes. The confined nature of the lesion suggests that laser ablation is a controlled and spatially precise procedure.
Objective: To assess population morbidity in relation to air pollution caused by emissions from a municipal solid waste (MSW) landfill. Methods: This study used data from the sanitary protection zone (SPZ) project for the Levoberezhny landfill (Novosibirsk Region, Russia), gas-geochemical biogas analysis conducted by an independent testing laboratory, and atmospheric air sampling protocols from both residential areas and SPZ boundaries (n=52). Public health impacts were evaluated using medical records from a sample of 723 individuals. Results: en priority chemical substances were identified in atmospheric emissions. Benzene was determined to be the primary contributor to carcinogenic risk (94%). Key contributors to non-carcinogenic hazards included phenol (70.9%), ammonia (7.8%), methane (7.4%), and dimethylbenzene (7.1%). Relative risk (RR) was calculated by comparing a study group to a control group. The results revealed statistically significant increases in the risk of morbidity (RR=2.8, p<0.05) and a higher frequency of medical consultations (RR=5.7, p<0.05) for acute and chronic respiratory diseases. Additionally, a significantly higher incidence of anemia (RR=2.9, p<0.05) was observed among adults residing near the landfill. Conclusion: The findings confirm that the Levoberezhny MSW landfill has a measurable negative impact on the health of the surrounding population, particularly respiratory and hematological conditions.
The article presents a comprehensive analysis of iodine deficiency disorders in the Republic of Tajikistan, with emphasis on the historical background, scientific aspects, and current state of legal regulation of this problem. Based on official statistical data and the results of two large-scale national studies conducted in 2008-2022, the article examines trends in the incidence of endemic goiter, population coverage with iodized salt, and median urinary iodine concentration indicators among different population groups. It was established that despite a significant decrease in the incidence of endemic goiter, mild iodine deficiency persists in the republic, particularly among children. A critical analysis was conducted of the reasons for the discrepancy between iodized salt consumption and the population's iodine status, and areas for improving the system for preventing iodine deficiency disorders were proposed. The review is based on an analysis of 38 sources from international and regional databases for the period 2013-2023.
Objective: To investigate the prevalence of thyroid cancer (TC) in the Republic of Tajikistan, analyze its clinical and morphological characteristics, and assess the cytokine status of affected patients. Methods: This retrospective study analyzed data from patients treated at the Republican Oncology Scientific Center of Tajikistan between 2014 and 2023. Descriptive statistics were employed to evaluate incidence rates, clinical features, and therapeutic outcomes. Additionally, the cytokine status, specifically serum levels of Interleukin4 (IL4), Interleukin6 (IL6), and Tumor Necrosis Factoralpha (TNFα), was assessed in a cohort of 52 patients. Results: Although the incidence of TC in Tajikistan has remained relatively stable over the last decade, a high prevalence of advanced stages (T3T4) was observed. Females accounted for 75.5% of cases, and a significant majority of patients (60.9%) presented with advancedstage disease (T3T4). Papillary and follicular carcinomas were the most frequent histological subtypes. Surgical intervention, primarily total thyroidectomy and subtotal resection, remains the cornerstone of treatment, supplemented by adjuvant hormone therapy and polychemotherapy. Immunological monitoring revealed significantly elevated levels of IL4, IL6, and TNFα, suggesting impaired immune regulation, particularly among older age groups. Conclusion: These findings underscore the critical need for improved early diagnostic strategies for TC. A comprehensive management approach that integrates radical surgical intervention with adjuvant therapies and immunological monitoring is essential for optimizing patient outcomes.
Laryngeal cancer is one of the most common malignancies of the head and neck. Although multislice computed tomography (MSCT) is widely used as a primary diagnostic tool, standardized protocols for interpreting MSCT data to assess tumor resectability in early-stage laryngeal cancer remain lacking. This review article evaluates the diagnostic value of MSCT in adults with early laryngeal cancer. A comprehensive literature search was conducted across the CyberLeninka, EMBASE, PubMed, MEDLINE, and ResearchGate databases for articles published between 2010 and 2025. The search utilized the following keywords: “multislice computed tomography”, “radiation semiotics of laryngeal cancer”, “early laryngeal cancer”, “tumor resectability”, and “endolaryngeal resection”. Preliminary screening excluded papers that did not directly address the core objectives of this study. All original scientific articles focusing on the radiological diagnosis and management of early-stage laryngeal cancer were included for final review.
Objective: To investigate the structure and prevalence of laryngeal diseases among individuals in voice and speech-intensive professions. Methods: A total of 163 professionals (78 women and 85 men) whose occupations require heavy vocal use were examined at the ENT Clinic of the Shifobakhsh National Medical Center of the Republic of Tajikistan. The patients were divided into two cohorts: speech-related professionals (study group) and vocalists (comparison group). All subjects underwent a comprehensive ENT examination, video fiber-optic laryngoscopy, and voice recording analysis. Results: Occupational analysis showed that the speech-related cohort comprised teachers, actors, and childcare workers, while the vocalist cohort included professional singers, amateur singers, and music school students. In the speech-related group, organic laryngeal diseases predominated, including acute and chronic laryngitis, laryngeal polyps, and, less frequently, vocal fold hemorrhage. Functional voice disorders in this group primarily manifested as hypotonic dysphonia, hypertonic dysphonia, and functional aphonia. Conversely, vocalists predominantly exhibited functional laryngeal diseases, specifically hypotonic and hypertonic dysphonia, phonasthenia, and pubertal dysphonia (the latter observed in music school students). Organic pathologies in vocalists were limited to acute and chronic laryngitis. Conclusion: Functional voice disorders are the most prevalent laryngeal pathologies among vocalists, whereas organic laryngeal diseases predominate among speech-related professionals. These findings underscore the critical need for targeted prevention strategies and timely therapeutic interventions for individuals in vocally demanding occupations.
Objective: This study analyzes the epidemiological structure and clinical features of ascariasis incidence in the Astrakhan region of the Russian Federation, from 2000 to 2024. Methods: Final diagnoses were established based on epidemiological history, clinical symptoms, patient complaints, and detection of helminth eggs by microscopic examination of fecal material. Results: During the study period, 485 cases of human ascariasis were registered in the Astrakhan region, accounting for 60.0±0.0% of the region's total geohelminthiasis burden. Urban cases in Astrakhan accounted for 38.8±0.1% (n=188) of the total. In comparison, rural districts of the Astrakhan region accounted for 61.2±0.0% (n=297), demonstrating a significantly higher incidence rate in rural areas. Clinical analysis revealed that 95.5±0.0% (n=463) of patients presented with various symptoms indicative of helminthic infestation. The remaining 4.5±0.4% (n=22) of cases were asymptomatic Conclusion: The predominant clinical symptoms included epigastric pain, nausea, vomiting, diarrhea, and loss of appetite. Agricultural practices, specifically the use of untreated wastewater and sewage sludge as organic fertilizers in commercial, collective, and private farming, remain major potential drivers of population infection.
Objective: The study evaluated the dynamics of interleukin (IL-6, IL-10, IL-17, and IL-18) levels in the serum of patients with acute respiratory distress syndrome (ARDS) during severe and critical COVID-19 to determine their prognostic significance. Methods: Seventy participants were examined: 50 patients with COVID-19 (mean age 45.5 years) and 20 healthy volunteers (mean age 42.5 years). Patients were divided into two subgroups: 1 – severe course (n=30, survivors) and 2 – critical course (n=20, non-survivors). Serum levels of IL-6, IL-10, IL-17, and IL-18 were measured on days 3, 5, 7, 10, and 16 using ELISA. The respiratory index (RI) and its correlation with interleukin levels were also assessed. Results: COVID-19 patients showed a statistically significant increase in IL-6, IL-10, and IL-17 levels, peaking on day 10: IL-6 (29.9±1.1 pg/mL in subgroup 2), IL-10 (26.3±1.3 pg/mL), and IL-17 (33.1±1.3 pg/mL); p<0.001 for all. Non-survivors showed a negative correlation between RI and interleukin levels. ROC analysis indicated that IL-6 levels >22.2 pg/mL on day 7 serve as an early prognostic marker of mortality. Conclusion: Early in the disease, elevated levels of IL-6, IL-10, and IL-17 are associated with ARDS and a high risk of mortality; furthermore, an IL-6 level >22.2 pg/mL on day 7 may serve as an early predictor of prognosis.
Objective: To evaluate the relationship between the in silico and in vivo antidiabetic and antiatherosclerotic properties of novel dihydropyridine and thienopyridine derivatives using an experimental model of combined dietary loading followed by dexamethasone administration. Methods: Substances synthesized at the Research Laboratory “ChemEx” of Vladimir Dahl Lugansk State University were subjected to virtual bioscreening, which made it possible to identify several lead compounds: AZ-383, AZ-023, TD-0331, and mar-014. The experiment was performed on 56 mature male Wistar rats. The control group consisted of rats in which metabolic disorders were modeled by dietary and dexamethasone loading. In four experimental groups, after modeling the disorders, the novel compounds were administered intragastrically for 14 days at a dose of 1.5 mg/kg: AZ-383 in experimental group No. 1, AZ-023 in experimental group No. 2, TD-0331 in experimental group No. 3, and mar-014 in experimental group No. 4. Animals in the comparison groups received metformin, atorvastatin, and imunofan. When the animals were removed from the experiment, blood glucose, total cholesterol, and triglyceride levels were determined. Results: High-fat and high-carbohydrate loading, followed by dexamethasone administration, led to the development of carbohydrate and lipid metabolic disorders, with blood glucose 9.8±0.9 mmol/L, total cholesterol 3.0±0.4 mmol/L, and triglycerides 2.4±0.7 mmol/L. In all experimental groups treated with the novel compounds, blood glucose, total cholesterol, and triglyceride levels did not differ statistically from the corresponding parameters in the intact group of animals. Conclusion: The novel cyanothioacetamide derivatives studied in the experiment, designated AZ-383, AZ-023, TD-0331, and mar-014, exhibit antidiabetic and antiatherosclerotic activity, as evidenced by reductions in glycemia and total blood cholesterol and triglyceride concentrations in a model of metabolic disorders induced by combined dietary loading followed by dexamethasone administration.
Objective: To evaluate the immunological profile of serous ovarian carcinoma and ductal breast carcinoma, as well as the activity of apoptotic markers as a prognostic factor of sensitivity to immunotherapy. Methods: The study included 53 patients with serous ovarian adenocarcinoma, stage II-III, or breast cancer T2-4N0-3M0-1, and 39 women in the control group with oophorectomy or breast fibroadenoma not associated with tumor pathology. The analysis included immunohistochemical determination of CD4+, CD8+, CD20+, and CD163+ cells, as well as bcl-2 and CD95 expression in tumor and healthy tissues. Statistical processing was performed using nonparametric statistical methods. Results: CD8+ cytotoxic lymphocytes and CD163+ macrophages predominated in ovarian tumor tissue, and their number increased statistically significantly compared with conditionally healthy tissue. CD4+ T-helper cells were less common. A similar cell distribution was observed in the demarcation zone. In breast cancer, macrophages and T-helper cells were the most numerous. Expression of the anti-apoptotic marker bcl-2 was reduced in tumor tissue, whereas the pro-apoptotic marker CD95 showed high expression in both carcinoma localizations. These changes confirm the complex mechanisms of immunosuppression in the tumor microenvironment. Conclusion: The immunological profile of serous ovarian carcinoma and breast cancer is characterized by pronounced infiltration of cytotoxic lymphocytes, T-helper cells, and macrophages, as well as changes in the expression of apoptotic markers. These data may be useful for optimizing ovarian cancer immunotherapy
Objective: o study the effectiveness of early preoperative orthodontic treatment of newborns and infants with unilateral cleft lip and palate using a specialized dental obturator. Methods: An analysis was performed of treatment outcomes and clinical and diagnostic data from a cohort of patients (n=26) diagnosed with unilateral cleft of the upper lip, alveolar process, hard palate, and soft palate. The observation was carried out at the Scientific and Clinical Center “Dentistry” of Avicenna Tajik State Medical University, the National Medical Center of the Republic of Tajikistan “Shifobakhsh”, and Maternity Hospitals No. 1 and No. 2 in Dushanbe. Boys accounted for 46% and girls for 54%. The age range was from birth to 6 months. Results: Early orthodontic treatment (EOT) was provided to 18 patients (69%) with complete unilateral congenital cleft of the upper lip, alveolar process, hard palate, and soft palate during the preoperative period. The use of a specialized dental obturator during the neonatal and infant periods contributed to improved configuration of the maxillary alveolar arch. In the control group, which included 8 patients (31%) who did not receive EOT, complications included rotation and protrusion of the anterior segment of the maxillary alveolar process, accompanied by increased deformation of the nasal ala and nasal tip. These patients also developed pathological habits that aggravated secondary deformities under normal sucking load. Conclusion: Successful implementation of the therapeutic program and subsequent rehabilitation of patients with unilateral congenital clefts require an integrative approach based on close cooperation within an interdisciplinary team of specialists and active involvement of parents in the treatment process.
Objective: This study aimed to compare clinical, anamnestic, anthropometric, and laboratory parameters in children with urolithiasis according to the presence of a dominant inheritance (unfavorable genotype). Additionally, the study evaluated the prognostic value of vitamin D levels regarding disease recurrence. Methods: A total of 100 children, aged 8 months to 18 years (mean age 13.4±0.8 years), treated at the Multidisciplinary Specialized Center for Pediatric Surgery (2nd Clinic) of Samarkand State Medical University, Samarkand, Uzbekistan, were included. Patients were divided into two subgroups based on hereditary predisposition: subgroup 1 (n=80), children with dominant inheritance of urolithiasis (unfavorable genotype); and subgroup 2 (n=20), children without dominant inheritance. Data were collected using anamnestic, clinical, anthropometric, laboratory, imaging, and immunogenetic research methods. Results: School-aged children predominated the cohort, with 43% aged 4-11 years and 46% aged 12-18 years; the male-to-female ratio was approximately 2:1 (67% boys, 33% girls). In the dominant inheritance subgroup, abdominal pain (75%), lumbar pain (69%), macrohematuria (65%), and dysuria (57%) were more prevalent. However, the only statistically significant intergroup difference was the frequency of dry skin (51% vs. 25%; p=0.045). Anthropometric analysis revealed a trend toward lower body weight, height, and BMI relative to age-matched medians. Vitamin D deficiency was significantly more common in children with recurrent urolithiasis than in those with primary urolithiasis (35.0% vs. 16.3%; p<0.05). A 25(OH)D level <25 ng/ml was strongly associated with an increased risk of relapse (RR=13.5; Sensitivity=88.2%; Specificity=80.3%). Conclusion: The clinical course and recurrence risk in pediatric urolithiasis should be assessed by integrating hereditary predisposition, clinical symptoms, anthropometric status, and vitamin D levels. A serum 25(OH)D concentration below 25 ng/mL is a significant prognostic marker for recurrence, warranting regular laboratory monitoring.
Objective: o study genetic associations of age-related macular degeneration (AMD) with polymorphisms of the MMP9, CYP, and eNOS genes using modern molecular genetic methods, in order to assess their contribution to disease development and identify possible prognostic markers. Methods: The study included 60 patients with AMD and 100 healthy subjects as a control group. Genetic polymorphisms were assessed using polymerase chain reaction followed by sequencing (PCR-SSP). The following polymorphisms were included in the study: MMP9 (rs17576), CYP (rs1799998), and eNOS (rs2070744, rs1549758). Standard statistical methods were used to evaluate associations, including calculation of odds ratios (ORs) and 95% confidence intervals (95% CIs). Results: A statistically significant association was found between the CYP (rs1799998) polymorphism and a reduced risk of AMD development (OR=0.53; 95% CI: 0.29-0.95; p=0.016). The TT genotype of the eNOS (rs2070744) polymorphism was associated with an increased risk of the disease in the recessive model (OR=2.07; 95% CI: 1.10-3.91; p=0.026). The MMP9 (rs17576) and eNOS (rs1549758) polymorphisms showed no significant associations with AMD (p>0.05). For MMP9, a tendency toward a higher frequency of the A allele was observed in patients with AMD; however, the difference did not reach statistical significance. Conclusion: The results obtained emphasize the importance of genetic polymorphisms, such as CYP (rs1799998) and eNOS (rs2070744), as potential risk markers for AMD. The identified associations require further confirmation in larger samples to assess their prognostic value and to develop personalized approaches to disease prevention and treatment.
Objective: To assess the serum levels of markers of endothelial glycocalyx (EG) degradation in children with type 1 diabetes mellitus (T1DM), depending on the presence or absence of diabetic complications, in order to determine the severity of endothelial dysfunction (ED). Methods: A total of 60 children and adolescents were examined (median age 7 [3; 16] years), 30 of whom formed the main group (patients with T1DM; MG), while the other 30 were included in the control group (CG). Depending on the presence or absence of diabetic complications (neuro-, retinopathy, and nephropathy), patients from the MG were divided into two subgroups: those without complications (n=16) and those with complications (n=14). In all children, serum markers of EG degradation were determined by enzyme-linked immunosorbent assay: syndecan-1 (SDC1), syndecan-4 (SDC4), endocan-1 (EC1), heparan sulfate (HS), angiopoietin-1 (AP1), and hyaluronic acid (HA). Results: Four out of six studied markers of EGL degradation – SDC4, HS, AP1, and HA – were elevated in the serum of patients with MG compared with children in the CG. The concentrations of SDC1 and EC1 in patients with T1DM did not differ significantly from those in the control group. The highest serum levels of SDC1, SDC4, HS, and HA were found in patients with T1DM who had diabetic complications. No statistically significant differences were found in the increase in EC1 and AP1 concentrations between children with diabetic complications and apparently healthy children. Conclusion: High serum levels of SDC4, HS, AP1, and HA in children with T1DM indicate EG degradation and ED. Elevated concentrations of SDC1, SDC4, HS, and HA may serve as laboratory criteria for the presence of diabetic complications.
Objective: This study aimed to investigate the impact of the Sputnik Light vaccine on psychophysiological functions and heart rate variability (HRV) in university students. Methods: The study evaluated simple and complex visual-motor reaction speeds, time perception, mental productivity, and work capacity in first-year students (aged 18-19). Autonomic nervous system responses were assessed using HRV analysis. The study group included 30 vaccinated students, while the control group consisted of 12 unvaccinated students. Assessments were conducted at three time points: baseline (pre-vaccination), 3 days post- vaccination, and 2 weeks post-vaccination. Results: Three days after vaccination, a statistically significant slowing of simple visual-motor reactions was observed (p<0.01). However, the accuracy of time perception improved by 6.3% (p<0.05), and the number of correct answers in performance testing increased (p<0.05). Parasympathetic activity also increased: RMSSD rose from 45.0 [30.0; 65.0] to 55.0 [40.0; 80.0] ms (p<0.05), while the stress index decreased from 110.0 [54.0; 140.3] to 67.3 [40.0; 85.0] c.u. (p<0.01). After two weeks, all psychophysiological parameters returned to baseline levels. No significant changes were observed in the control group. Conclusion: Vaccination with Sputnik Light did not produce adverse effects on higher nervous activity or autonomic functions, resulting only in transient physiological shifts.
Nijmegen breakage syndrome is a rare hereditary monogenic disease caused by a mutation in the NBN gene, which encodes nibrin, a protein involved in DNA repair. As a result, disturbances occur in the processes of the cell cycle and apoptosis, along with the accumulation of mutated cells. This, in turn, leads to a high risk of malignant neoplasms, predominantly lymphomas, and immune pathology. The disease is inherited in an autosomal recessive pattern and is most common among Slavic populations. This pathology is of particular relevance to primary care specialists, since the patient’s prognosis depends on timely diagnosis. The article presents a clinical case of a 7-month-old boy with microcephaly, facial skeletal deformity of the “bird-like face” type, and recurrent respiratory infections. Extended neonatal screening revealed a decreased TREC/KREC ratio, which served as the basis for molecular genetic testing. The study included an analysis of primary medical documentation and a literature review. Thus, early diagnosis enabled the establishment of the diagnosis at 2 months of age, prompt initiation of immunoglobulin replacement therapy, and the search for a donor for hematopoietic stem cell transplantation, thereby improving the course of the disease and subsequent prognosis.
Objective: To conduct a comparative analysis of the effectiveness of different revascularization methods – percutaneous coronary intervention (PCI) and thrombolytic therapy (TLT) – regarding clinical, functional, and hemodynamic parameters, as well as disease outcomes, in patients with acute myocardial infarction (AMI) and paroxysmal atrial fibrillation (AF). Methods: A total of 124 patients with AMI and various forms of AF were examined at the Samarkand Regional Branch of the Republican Specialized Scientific and Practical Medical Center of Cardiology, Samarkand, Uzbekistan. Of these, 92 patients underwent PCI and 32 received TLT. The study was conducted over three years (2021-2023). Treatment effectiveness was assessed based on: restoration and maintenance of sinus rhythm (SR); changes in left ventricular ejection fraction (LVEF); bleeding risk (HAS-BLED scale); thromboembolic risk (CHA₂DS₂-VASc scale); AF symptom severity (modified EHRA scale); quality of life (modified Libis R.A. questionnaire); and the incidence of major adverse cardiovascular events. Results: Statistically significant differences between the PCI and TLT groups demonstrated the clinical superiority of the invasive approach. Key findings included: higher rates of SR restoration (93.4% vs. 68.7%, p<0.001); superior improvement in LVEF (p=0.03); and lower risks of both bleeding (0.04±0.00 vs. 0.20±0.03, p<0.001) and thromboembolic complications (0.03±0.11 vs. 0.20±0.57, p=0.01). Furthermore, PCI patients showed lower AF symptom severity (EHRA I, p=0.002; EHRA IIb, p=0.003), improved quality of life (specifically regarding low mood, p=0.005; depression, p=0.047; and loss of interest, p=0.049), and a lower incidence of acute heart failure (p=0.023). Conclusion: PCI demonstrates clear advantages over TLT in patients with AMI and AF. These benefits include higher SR recovery rates, more significant LVEF improvement, reduced risks of bleeding and thromboembolism, milder AF symptoms, better quality of life, and a lower incidence of acute heart failure.
