№3, 2025, volume 21
Integrated approach to care of children with genetic disorders on the example of a child with A pert syndrome (clinical case)
Heading: Pediatrics Article type:
Authors: Glushakov I.A., Gumenyuk O.I., Tyapkina D.A., Gadzhikerimov G.E., Chernenkov Yu.V.
Organization: Saratov State Medical University, Saint Petersburg State Pediatric Medical University , Pirogov Russian National Research Medical University, Moscow, Russia , Immanuel Kant Baltic Federal University, Kaliningrad, Russia
The article presents a clinical case of Apert syndrome in a 2-year-old child. Apert syndrome is an auto-somal dominant hereditary craniosynostosis that develops due to the pathogenic variant of the FGFR2 gene, which leads to a deficiency of intracellular signals that regulate embryogenesis, causing premature gastrulation, implantation abnormalities, violation of epithelial-mesenchymal interactions, which determines the severity of the patient's condition. The article demonstrates an integrated approach to the management and observation of such a patient with the involvement of specialists of various profiles.
White coat hypertension in pregnant women: comparative assesment of risk factors, target organ damage and gestational outcomes
Heading: Cardiology Article type: Original article
Authors: Nikolenko E.S., Chulkov V.S., Syundyukova E.G., Chulkov Vl.S.
Organization: South Ural State Medical University, Yaroslav-the-Wise Novgorod State University
Objective: to conduct a comparative assessment of risk factors, target organ damage, and gestation outcomes in pregnant women with AH and normal blood pressure (BP). Material and methods. The prospective cohort study included 88 pregnant women divided into two groups: group 1 (main group) (44 women with white coat hypertension) and group 2 (comparison group) (44 women with normal blood pressure). Clinical factors, 24-h BP monitoring parameters, the state of target organs (heart, kidneys, and blood vessels), and pregnancy course and outcomes were recorded. Results. Women with white coat hypertension compared with normotensive pregnant women had a higher prevalence of abdominal obesity (90.9% vs 47.7%; p<0.001) and history of preeclampsia (11.4% vs 0%; p=0.021), higher night-time systolic (SBP) and diastolic BP, daytime diastolic BP (p<0.001), night-time diastolic BP (p=0.006), daytime heart rate (HR) (p=0.006), left ventricular posterior wall thickness (p<0.001), interventricular septal thickness (p<0.001), relative wall thickness (p=0.003), left ventricular myocardial mass (p<0.001), left ventricular end-diastolic volume (p=0.020), intima-media thickness on the right (p=0.022) and left (p=0.006), right cardio-ankle vascular index (p=0.043), urine albumin/creatinine ratio (p<0.001). The course of pregnancy in women with white coat hypertension was more often complicated by gestational diabetes mellitus (79.5% vs 25%; p<0.001) and late preeclampsia (11.4% vs 0%; p=0.021). Conclusion. Pregnancy in women with white coat hypertension is characterized by an increased risk of developing structural and functional changes in target organs and a high frequency of complications compared to pregnant women with normal BP.
Association of cardiorenal risk predictors in patients with different phenotypes of early carbohydrate metabolism disorders
Heading: Endocrinology Article type: Original article
Authors: Isakova D.N., Troshina I.A., Butareva M.M., Royuk V.V., Petrov I.M.
Organization: First Moscow State Medical University n.a. I.M. Sechenov, Tyumen State Medical University
Objective: to identify associations of cardiorenal risk predictors with prediabetes with various phenotypes of early carbohydrate metabolism disorders in patients. Material and methods. Across-sectional cohort study of 122 patients with prediabetes was conducted in the city of Tyumen. The average age of the subjects was 46.2±8.2 years. The role of cardiovascular risk predictors and early renal damage in the development of total cardiorenal events during the year was studied. The degree of association of parameters and conditions was estimated in the values of odds ratio indicators. Results. The most significant contribution to the development of combined early carbohydrate metabolism disorders: impaired fasting glycemia (IFG) and impaired glucose tolerance (IGT) was demonstrated by insulin sensitivity index QUICKI (p=0.036), interleukin-1(3 level (p=0.021), high-sensitivity C-reactive protein (p=0.031), cystatin С in urine (p=0.002), and C-peptide (p=0.039). The phenotype of patients with early carbohydrate metabolism disorders combining IFG and IGT was characterized by a 1.5-fold increase in the risk of developing combined cardiorenal events. Conclusion. The combination of IFG and IGT in the group of patients with early carbohydrate metabolism disorders demonstrates an increased risk of cardiorenal events, which requires a differentiated approach to the development of an algorithm for managing patients with different phenotypes of prediabetes.
Acute gangrenous perforated appendicitis complicated by phlegmon of the anterior abdominal wall (clinical case)
Heading: Surgery Article type: Case report
Authors: Shapkin Yu.G., Eremina V.S., Molitvin Ye.A.
Organization: Saratov City Clinical Hospital №2 n.a. VI. Razumovsky, Saratov State Medical University
The article considers a clinical case of acute gangrenous perforated appendicitis with the development of a purulent-necrotic process in the anterior abdominal wall, the cause of which was an atypical localization of the appendix- in the projection of the deep inguinal ring. In this case, the purulent-destructive process was localized only in the anterior abdominal wall. This case is unique, since it has not been previously encountered in the clinical practice of the authors, as well as in the literature we studied. The observation turned out to be difficult in terms of differential diagnosis: the patient was suspected of having a strangulated recurrent inguinal hernia with the formation of phlegmon of the hernial sac, acute inguinal lymphadenitis on the right, and, to a lesser extent, acute appendicitis in the stage of appendicular infiltrate. Surgical treatment was performed, after which the patient was discharged in a satisfactory condition on the 17th day.
Circular resection of the left main and upper lobe bronchi with bronchoplastyin a patient with central cancer of the lower lobe of the left lung (clinical case)
Heading: Surgery Article type: Case report
Authors: Gat'jatov R.R., Shanazarov N.A., Zinchenko S.V.
Organization: A.P. Silaev City Hospital, Kyshtym, Russia, Kazan (Volga region) Federal University, Kazan, Russia, Medical Center Hospital of the President's affairs Administration of the Republic of Kazakhstan, Astana, Republic of Kazakhstan
This clinical case focuses on the complexity of surgical treatment of patient with central non-small cell carcinoma of the left lung. The minimum standard amount of surgical treatment for our patient is a left pneumonectomy with systematic mediastinal lymph dissection due to the spread of the tumor to the distal part of the left main bronchus. Taking into account the young age (47 years old) of patient, in order to improve the quality of life, we performed organ-preserving surgery: lower lobectomy on the left lung with systematic mediastinal lymph dissection, circular resection of the left main bronchus, the left upper lobular bronchus, bronchoplasty with the formation of a circular anastomosis between the left upper lobular and left main bronchus. To prevent the occurrence of bronchopleural fistula, we used a free, unvascularized pleural fat flap from the pericardial part. The postoperative period was uneventful. 30 months after the operation, the patient is observed without tumor recurrence and generalization. Thus, bronchoplastic surgeries make it possible to save the patient more lung parenchyma and improve the quality of life compared to pneumon- and bilobectomies, while remaining a radical method of treating lung cancer, without worsening disease-free survival.
Long-term results of surgical treatment in patients with uncomplicated trauma to the thoracic and lumbar spine segments (systematic review)
Heading: Traumatology and Orthopedics Article type: Review
Authors: Tolkachev V.S., Shulga A.E., Bazhanov S.P., Shuvalov S.D., Ostrovskij V.V.
Organization: Saratov State Medical University
Objective: to conduct a systematic analysis of long-term outcomes of surgical treatment in patients with uncomplicated thoracic and lumbar spine trauma. Review methodology. The studies to analyze were retrieved from PubMed, Scopus, and Web of Science using a combination of MeSH terms and keywords: "spinal fracture", "surgical treatment", "support spondylosis", "visual analog scale", "health-related quality of life", "Oswestry Disability Index". The search was limited to the full text original studies. The search retrieved 1,245 articles, leaving 6 articles published between 2018 and 2024 after checking the eligibility criteria for inclusion. We calculated the changes in visual analog scale (AVAS) and Oswestry Disability Index (AODI) scores, Cobb loss of primary correction (COBB0), and complication rates (percent). Conclusion. AVAS ranged from 1.88 to 7.8 scores, AODI ranged from 33.05 to 51.85 percent, ACOBB0 ranged from 0.9 to 4.7 degrees, and complication rates ranged from 5 to 70 percent. Thus, the anterior support spondylosis leads to clinically significant reduction of pain syndrome and restoration of functional activity in patients who suffered uncomplicated fractures of thoracic and lumbar vertebrae; however, it should be noted that the data are limited by small samples and heterogeneity of study protocols, which may require further randomized multicenter studies.
Salivary secretory immunoglobulin A and its association with dental caries in children and adolescents: A systematic review and meta-analysis
Heading: Stomatology Article type: Review
Authors: Gorbatova M.A., Strelnikova E.M., Shagrov L.L., Grjibovski A.M.
Organization: Medical University "Reaviz", North-Eastern Federal University n. a. M.K. Ammosov, Northern State Medical University
Objective: to perform systematic search and both quantitative and qualitative synthesis of published evidence on the associations between salivary secretory immunoglobulin A (IgA) and caries in children and adolescents. Review methodology. A systematic review with meta-analysis based on papers published in journals indexed in PubMed and eLibrary indexing systems. The search for papers was not limited in time and language of publications, methods of determining IgA. The results reflected in dissertations, reports, clinical cases and recommendations were not included. Random effects meta-analysis was performed with Cohen's d as a measure of the effect. Higgins - Thompson P was used as a measure of heterogeneity. All results are presented with 95% confidence interval. In total, 140 original articles were identified using our search criteria. After screening and using exclusion criteria, the final sample for qualitative synthesis consisted of 15 publications. Of them, 11 publications have reported greater values of secretory IgA levels in oral fluid in children and adolescents without caries was noted, in 8 of them a statistically significant difference was revealed. Weighted average effect was 0.76 (95% confidence interval -0,22-1,74) with high degree of heterogeneity (/2=96,5%). Conclusion. Although the majority of original articles provide the evidence on the association between salivary secretory IgA and dental caries, the results of meta-analysis do not reach the level of statistical significance suggesting that the evidence is inconclusive and warranting further research on the associations between salivary secretory IgA and dental caries.
Surgical treatment outcomes of resistant diabetic macular edema
Heading: Ophthalmology Article type: Original article
Authors: Fayzrakhmanov R.R., Pavlovskiy O.A., Martynov А.О., Saraeva S.N.
Organization: National Medical and Surgical Center n. a. N. I. Pirogov
Objective: to analyze the impact of surgical intervention in resistant diabetic macular edema (DME) on the morphological and functional parameters of the retina according to ОСТ and microperimetry data. Material and methods. 75 patients diagnosed with resistant DME: group 1 (25 patients, 25 eyes) underwent intravitreal administration of anti-VEGF drugs; group 2 (26 patients, 26 eyes) underwent vitrectomy with membrane peeling; group 3 (24 patients, 24 eyes) underwent vitrectomy with membrane peeling and subretinal administration of balanced salt solution (BSS). Results. After 1 week, the thickness of the fovea in the group 3 decreased by 1.3 times (p=0.043 compared to the 1st group), by 1.2 times (p=0.044, compared to the group 2), after 1 month by 1.5 times (p=0.041) and by 1.2 times (p=0.044). After 6 months by 1.2 times (p=0.042) in the group 2 and by 1.4 times (p=0.042) in the group 3, compared to the group 1. After 12 months by 1.3 times less in the group 3 (p=0.043 compared to the 1st group). When analyzing the best-corrected visual acuity after 6 months, the functional results of patients in groups 2 and 3 improved by 1.8 times (p=0.038) and 1.9 times (p=0.039) compared to those in group 1. Light sensitivity 1 week after surgery in groups 2 was 1.4 times (p=0.042) and in groups 3was 1.5 times (p=0.041) higher than those in group 1. Conclusion. In the treatment of DME, vitreoretinal surgery plays an important role in changing retinal parameters, contributing to a decrease in thickness in the early stages, an increase in light sensitivity and an increase in best-corrected visual acuity.
Auditory steady-state evoked potentials in sensorineural hearing loss and normal auditory function
Heading: Otorhinolaryngology Article type: Original article
Authors: Noskova V.V., Khrabrikov A.N.
Organization: Kirov State Medical University
Objective: to evaluate the correlation between psychoacoustic hearing thresholds and ASSR (Auditory Steady-State Response) thresholds in patients with sensorineural hearing loss (SNHL) and in otologically healthy subjects. Material and methods. Auditory function was studied in 130 people grouped into 3 groups: group 1 consisted of patients with chronic SNHL (n=50), group 2 - patients with acute SNHL (n=50), group 3 - otologically healthy subjects (n=30). Thresholds were compared when registering tonal threshold audiometry and when registering auditory stationary evoked potentials. Results. The average difference between psychoacoustic hearing thresholds and ASSR thresholds at 4 speech frequencies in patients with SNHL in the right ear was 15 dB normal hearing threshold (NHT; p=0.005), in the left ear- 14.4 dB NHT (p=0.005), with a minimum difference of 12.3±5.9 dB NHT at 4000 Hz in patients with chronic SNHL in the right ear (p<0.001), with a maximum difference of 18.4±8.2 dB NHT at a frequency of 2000 Hz in patients with acute SNHL in the left ear (p=0.005). In otologically healthy subjects, the average difference between psychoacoustic hearing thresholds and ASR thresholds at 4 speech frequencies in the right ear was 10 dB NHT, in the left ear- 11.2 dB NHT. The minimum threshold difference was detected at a frequency of 4000 Hz in the right ear (6.5±1.6dB NHT; p<0.001), the maximum at a frequency of 500 Hz in the right ear (14.8±5.8 dB NHT). In patients with SNHL, the correlation coefficient ranged from 0.81 to 0.94 (p<0.001) when registering the tonal threshold audiometry and ASSR test. In otologically healthy subjects, the correlation closeness on the Chaddock scale ranged from 0.76 to 0.96 (p<0.001). Conclusion. The obtained values demonstrate a significant strong correlation between psychoacoustic hearing thresholds and ASSR thresholds.
Experience of calibration of a non-contact laser Doppler flowmeter
Heading: Otorhinolaryngology Article type: Original article
Authors: Mareev G.O., Mareev O.V., Kapralov S.V., Klimenko G.A., Kalyuta T.Yu.
Organization: Saratov State Medical University
Objective: to carry out calibration of a non-contact laser Doppler flowmeter (LDF) with justification for its subsequent use in model experiments and clinical trials. Material and methods. An experimental setup is described for reproducing a given blood flow velocity by simulating a capillary; methods are presented for calibrating the flowmeter in tissue perfusion units using a calibration emulsion fluid to determine the instrument readings' dependence on the concentration of moving particles. A method is provided for measuring the level of "biological zero" tissue perfusion of gastrointestinal tract mucosa. Results. Key parameters for processing signals from the non-contact LDF were established along with their relationship to characteristics of the calibration solution's flow and particle movement speed within it. The average value of the "biological zero" index was determined for gastric mucosal wall at 0.07±0.014 tpu. Conclusion. As a result of the carried out work on calibration of the experimental LDF apparatus which measures microcirculatory blood flow using a contactless method, suitability for measurements of the microcirculatory bed of human tissues was confirmed, basic dependences of the parameters of processing the LDF signal on the volume of the flowing calibration emulsion, its speed and the number of moving microparticles in it were obtained.




