Aim . To evaluate the phenotype of patients with secondary tricuspid regurgitation (STR) associated with acquired left heart defects (AHDs) requiring surgical treatment. Material and methods . We analyze data from a prospective observational registry including patients with AHDs to assess demographic characteristics, the nature of heart valve disease, and comorbidities among 1429 patients aged 18 to 80 years who were referred for surgical correction of noncommunicable AHDs between 2012 and 2023. Results . Among the 1429 patients with primary mitral and/or aortic valve disease, STR was detected in 28,2%. STR was most often associated with mitral valve di­sease (20,08%). STR was more common in women (62,3%) than in men (37,7%) (p<0,001). In addition, 53,6% of patients with STR had AHD due to rheumatic heart disease, while degenerative lesions occurred in 21,3%, and connective tissue dysplasia in 16,1% of patients. The odds of high pulmonary hypertension probability according to echocardiography were 2,5 times higher in patients with STR (95% confidence interval (CI): 1,833-3,420, p<0,001) compared to the group without STR. A multivariate model was used to identify predictors of left heart defects with indications for surgical treatment, including age, female sex, rheumatic origin, absence of degenerative valve disease, presence of atrial fibrillation (AF), lung di­sease, and obesity (area under the receiver operating characteristic (ROC) curve (AUC) =0,779; 95% CI: 0,750-0,808, p<0,001). Conclusion . The proportion of patients hospitalized for surgical treatment of left heart defects with STR is high (up to 30%). The phenotype of these patients is most often represented by elderly women with concomitant AF and pulmonary hypertension. We identified factors associated with left heart defects in patients with STR. These factors include age, female sex, rheumatic origin, absence of degenerative valve disease, presence of AF, lung disease, and obesity.

Introduction. Connective tissue dysplasia (CTD) is a hereditary, multifactorial condition characterized by impaired development of connective tissue during the embryonic and postnatal periods. This impairment results from genetically determined defects in the formation, maturation, and metabolism of cells and the extracellular matrix. The aim of this study was to investigate the associations of three polymorphic variants of the ADAMTS5 gene with CTD in general, and with specific phenotypic features of CTD. Materials and Methods. A cross-sectional study was conducted. The study included 181 participants (35 males, 19.3%, 146 females, 80.7%) with a mean age of 21.9 with a standard deviation of 2.9 years. At the first stage, all participants underwent a clinical examination, and signs of CTD were assessed using the Kadurina T.I. score, as modified by Tyurin A.V. The subsequent stage involved a molecular genetic analysis. Statistical data processing was performed using Excel 2024 and GraphPad Prism 8 software packages. Results. The clinical examination, utilizing quantitative scoring methods, revealed signs of CTD in 130 subjects (71.8%). A comparative analysis of the allele and genotype frequency distributions for the ADAMTS5 gene loci (rs226794, rs9978597, and rs2830585) revealed the following significant associations: the A allele and AA genotype of rs226794 with the presence of internal organ hernias (p=0.015 and p=0.007, respectively); the T allele and TT genotype of rs9978597 with CTD (p=0.003 and p=0.004, respectively); and the T allele and TT genotype with skin hyperelasticity (p=0.03 and p=0.03, respectively) and hypotension (p=0.015 and p=0.02, respectively). Conclusion. Thus, the polymorphic variant rs226794 of the ADAMTS5 gene is a risk marker for the development of internal organ hernias, while rs9978597 is a risk marker for CTD, skin hyperelasticity, and hypotension.

Introduction. Joint hypermobility (JH) is a heterogeneous condition that is considered as an isolated condition and in combination with connective tissue dysplasia (CTD), nevertheless, patients with JH have high risks of developing associated conditions, but do not receive proper treatment and appropriate prevention due to difficulties in diagnosis and classification. Aim. Conduct phenotyping of the JH in order to optimize diagnostics. Materials and methods. The study involved 262 young men (n = 35) and women (n = 227); the average age was 21.86 ± 0.22 years. JH was determined on a 9-point Beighton scale (1998). Phenotypic signs of CTD were determined by the point‒quantitative method (T.I. Kadurina), JH and control groups were formed. Statistical data processing was carried out in Microsoft Excel 2021, Statistica 13, R Studio. The association search was carried out using the Fisher criterion X2, with the Yates correction. To perform cluster analysis (CA), the R Studio environment, the k-medoids algorithm, the “pam” function in R, the libraries “cluster”, “tidyverse”, “factoextra”, “NbClust”, for validation “clValid” were used. Results. JH was associated with phenotypic signs of CTD, such as dolichostenomelia, joint crunch, hyperkyphosis/hyperlordosis, low body mass index (BMI), skin’s hyperelasticity, ptosis of internal organs, hypotension, severe myopia. Next, a survey was conducted, as a result of which three clusters were identified. Cluster No. 1 included JH, hyperkyphosis/hyperlordosis, and low BMI. Cluster No. 2 includes JH, hyperelasticity of the skin and low BMI, and the third group includes subjects without JH, ptosis, hyperelasticity of the skin, hyperkyphosis/hyperlordosis and with a BMI >18.5. Conclusion. The heterogeneity found by CA among the subjects with JH suggests that the phenotypes of JH in the general sample may be close to subtypes of Ehlers-Danlos syndrome or represent their incomplete clinical forms.

Congenital heart disease (CHD) remains a leading cause of paediatric morbidity and mortality, necessitating early diagnosis and timely surgical intervention. The reported incidence is 6–10 per 1 000 live births. Comorbid connective tissue dysplasia (CTD) significantly influences the clinical course of CHD, contributing to structural weakness of cardiac and vascular tissues, elevated risk of postoperative complications, and poorer long-term outcomes. Objective. To synthesise current evidence regarding the clinical features, complications, and management of congenital heart disease in children with concomitant connective tissue dysplasia; to identify key pathophysiological mechanisms and highlight promising diagnostic and therapeutic strategies. Materials and methods. This review analyses global trends in the association between CHD and CTD in the paediatric population. Scientific literature indexed in PubMed, ScienceDirect, and Google Scholar from 2017 to 2024 was systematically evaluated. Results. Current research indicates that molecular alterations in connective tissue components—particularly fibrillin, collagen, and transforming growth factor-β (TGF-β) receptors—impair myocardial and vascular remodelling, thereby increasing susceptibility of valves and arterial walls to haemodynamic stress. Children with CTD frequently exhibit valve prolapse with regurgitation, aortic dilatation, aneurysm formation, vascular dissection, and heightened risk of perioperative haemorrhage and infection. These patients are more likely to require repeat surgical procedures and demonstrate delayed wound healing. Well-characterised syndromes—including Marfan, Loeys–Dietz, and Ehlers–Danlos—demonstrate unequivocal cardiovascular involvement. Optimal management mandates a multidisciplinary strategy encompassing early recognition of phenotypic features, comprehensive imaging (echocardiography, cardiac magnetic resonance imaging, angiography), and targeted genetic testing. Regular surveillance of aortic dimensions and valvular function, judicious timing of interventions, and appropriate pharmacological prophylaxis are critical to mitigating severe complications. Conclusions. Connective tissue dysplasia constitutes a significant comorbidity that exacerbates the natural history of congenital heart disease, increases surgical risk, and necessitates individualised therapeutic planning. Phenotypic signs of CTD must be actively sought and integrated into preoperative assessment and surgical decision-making. A coordinated, multidisciplinary approach—supported by advanced imaging, genetic counselling, and longitudinal follow-up—is essential for risk reduction and improved long-term prognosis. Further research into the molecular genetics and pathogenesis of CTD holds promise for early risk stratification and personalised management in children with CHD.

Dysmetabolic nephropathy (DN) is one of the most common nephrological disorders in childhood, characterized by metabolic disturbances leading to intrarenal crystal formation and affecting 21–31% of the pediatric population in Ukraine. This article presents the results of a comprehensive investigation into the genetic and epigenetic determinants of DN in children, including the clinical course, biochemical abnormalities, and molecular mechanisms of pathogenesis associated with different genotypes. The relevance of the study is underscored by the polygenic nature of DN, with up to 90% of cases exhibiting polygenic inheritance determined by complex interactions between hereditary and environmental factors. Objective. To characterize the genetic and epigenetic determinants of dysmetabolic nephropathy in children through analysis of polymorphisms in the VDR, GSTM1, and GSTT1 genes and assessment of early developmental factors. Materials and methods. A total of 108 children aged 6–17 years with DN and 44 healthy children from the Ivano-Frankivsk region were enrolled. Genotyping for VDR polymorphisms (TaqI, ApaI) and GSTM1/GSTT1 deletions was performed using polymerase chain reaction (PCR). A comprehensive clinical and laboratory evaluation was conducted to assess metabolic disorders, oxidative stress markers, and early developmental factors. The study was conducted in accordance with the principles of the Declaration of Helsinki. The study protocol was approved by the Ethics Committee of Ivano-Frankivsk National Medical University (Protocol No. 145/24 dated 20 March 2024). Statistical analyses were performed using the SPSS software package (IBM Corp., Armonk, NY, USA). Intergroup comparisons were carried out using the Student’s t-test, Mann–Whitney U test, and chi-squared (χ²) test as appropriate. Odds ratios (OR) with 95% confidence intervals (CI) were calculated. The study was supported by the research program of the State Institution “Institute of Hereditary Pathology of the National Academy of Medical Sciences of Ukraine”: “Search for markers of early diagnosis and differential diagnosis of congenital malformations associated with undifferentiated connective tissue dysplasia” (State Registration No. 0114U001549), and by the research programs of Ivano-Frankivsk National Medical University: “Features of psychosomatic adaptation in children with chronic somatic pathology” (State Registration No. 0112U004423; implementation period 2012–2021) and “Health status and adaptation features of children of Prykarpattia with somatic diseases, their prevention” (State Registration No. 0121U111129; implementation period 2021–2026). Results. In children with dysmetabolic nephropathy (DN), significant associations with VDR gene polymorphisms were observed: the heterozygous Aa genotype (ApaI) was associated with a 5.69-fold increase in DN risk (p < 0.001), and the Tt genotype (TaqI) with a 2.66-fold increase. The double deletion of GSTM1/GSTT1 conferred a 4.73-fold increase in DN risk. Among epigenetic factors, the most significant associations were observed for threatened abortion (15.83% versus 8.93%), gestosis during the first half of pregnancy (53.83% versus 28.57%), early artificial feeding (67.31% versus 14.28%), and frequent acute respiratory infections in childhood (71.15% versus 12.50%). Elevated markers of oxidative stress and disturbances in connective tissue metabolism were also documented in patients. Conclusion. Dysmetabolic nephropathy in children exhibits a polygenic inheritance pattern with a substantial contribution from epigenetic factors. The identified genetic markers may be utilized for early identification of at-risk individuals, while modification of epigenetic risk factors may serve as a basis for preventive strategies.

The relationship between urinary amino acids and the pathophysiological mechanisms of undifferentiated connective tissue dysplasia (UCTD) development in children of different ages remains relevant for early diagnosis. The aim of the study was to identify the stages of development of undifferentiated CTD in early schoolage children (7–10 years) and adolescents (11–15 years) by determining the amino acid composition of urine. A comparative study of the urine amino acid profile was conducted in children with undifferentiated connective tissue dysplasia (UCTD) of primary school age (7–10 years) and adolescents (11–16 years) living in the Sakha Republic (Yakutia). In primary school-aged children, as connective tissue (CT) disorders worsened (from grade 1 to grades 2-3 uCTD), elevated levels of not only CT disorder biomarkers such as 5-hydroxyproline and hydroxyproline were detected, but also amino acids such as glycine, proline, as well as serine and threonine, which participate in hydroxylation reactions and the synthesis of extracellular matrix proteins. This may indicate an early disturbance of amino acid metabolism underlying connective tissue disorders. The following groups of amino acids were identified that underwent the greatest changes in children of different ages with uCTD: amino acids associated with collagen metabolism (glycine, proline, hydroxyproline, and 5-hydroxyproline), branched-chain amino acids (valine, leucine, isoleucine), acidic amino acids (aspartate, glutamate), and aromatic amino acids (phenylalanine, tyrosine). The results of the study make a definite contribution to the development of modern ideas about the peculiarities of the formation of adaptive reactions of an organism living in extreme environmental conditions.

Objective: to study the features of arterial hypertension in patients with pathology of the venous system. Materials and methods: the study consisted of 2 stages. Stage 1 included 410 patients with arterial hypertension. The presence of signs of connective tissue dysplasia was initially identified, and the patients’ height and weight were measured to calculate their body mass index (BMI, kg/m2). Using ultrasound diagnostics, the patients’ renal venous blood flow, heart and kidney conditions were examined, and the levels of creatinine, glucose, uric acid, and serum lipid profiles were measured. In the presence of renal venous blood flow disorders in the examined patient, in addition to standard antihypertensive therapy, diosmin was prescribed at a dose of 600.0 mg once a day for 1 month, twice a year every 6 months, followed by dynamic monitoring of blood pressure and creatinine control status for 2 years. Based on the data obtained, the patients were divided into two groups: group 1 (n=291) (patients with AH+bilateral renal venous blood flow disorders) and group 2 (n=119) (patients with AH+normal. Results: in patients with hypertension, bilateral renal venous blood flow disorders were 2.4 times more common than normal renal blood flow (p0.001) and were more often associated with such manifestations of DST as mitral valve prolapse (11.9 times, p0.001), nephroptosis (24.8 times, p0.001), varicose veins extremities (23.3 times, p0.001), hemorrhoids (10.6% vs 0%, p0.001), chronic venous insufficiency (26.5% vs 0%, p0.001), varicocele (6.0 times, p=0.05). In addition, when comparing the body mass index between the groups, significant differences were obtained: the proportion of people with a BMI of 18.6–24.9 was 8 times higher among group 1 patients (43.3% vs 5.3%, p 0.001). In patients with hypertension and bilateral renal venous blood flow disorders, it was found that 30% of the examined patients had signs of varicose veins of the lower extremities, as well as chronic venous insufficiency, which were familial in nature (these conditions were found in parents, grandparents). In addition, patients with hypertension and bilateral renal venous blood flow disorder in 100% of cases noted a crisis course of hypertension associated with alcohol consumption (including low-alcohol drinks), as well as episodes of physical inactivity. The additional administration of diosmin to standard antihypertensive therapy in patients with hypertension and bilateral renal venous blood flow disorder made it possible to slow down the progression of a decrease in glomerular filtration rate. Conclusion: thus, it can be concluded that the presence in patients with hypertension of conditions such as mitral valve prolapse, nephroptosis, varicose veins of the lower extremities, varicose veins of the spermatic cord and distal rectum, chronic venous insufficiency, as well as BMI values corresponding to the norm, may be a predictor of the presence of impaired renal venous blood flow. Patients with arterial hypertension and impaired renal venous blood flow have characteristic features of the clinical course of hypertension (family history of venous pathology), lifestyle stratification (alcohol consumption, physical inactivity), provoking a crisis course. Additional administration of drugs to antihypertensive therapy in this category of patients that affect the state of the venous system pathogenetically rationally and may slow down the rate of decrease in glomerular filtration rate.

Aim. To identify risk factors for the development of pelvic organ prolapse (POP) in women after hysterectomy. Materials and methods. The study included 200 patients who presented for a scheduled follow-up examination 6 months after hysterectomy. The main group consisted of 100 patients who developed POP within 6 months after surgery, while the control group included patients without POP following the procedure. The diagnosis of POP was established based gynecological examination, and its severity was assessed using the international Pelvic Organ Prolapse Quantification (POP-Q) system. Inclusion criterion: hysterectomy performed six months prior to the study. Exclusion criteria: presence of oncopathology and refusal to participate (refusal to sign informed consent to participate in the study). Results. According to POP-Q system, stage I POP was detected in 47 % of women, stage II in 34 %, and stage III in 19 %. Patients with POP were significantly more likely to be aged ≥54 years (55 % vs . 11 %, p <0.05), have a history of obstetric trauma (47 % vs . 12 %, p <0.05), and report regular heavy lifting (35 % v s . 9 %, p <0.05). Anthropometric parameters (height, weight, body mass index) and the prevalence of somatic pathology (diabetes mellitus, arterial hypertension, chronic obstructive pulmonary disease, connective tissue dysplasia, chronic constipation) did not significantly differ between groups ( p >0.05). Conclusion. Age over 54 years, obstetric trauma, and a lifestyle associated with regular heavy lifting are key predictors of POP after hysterectomy. These factors exert a cumulative negative effect on the pelvic support structures, predisposing to functional insufficiency and organ descent. Identification of these risk factors during the preoperative evaluation enables the formation of high-risk groups, development of individualized preventive strategies, and optimization of surgical approaches to reduce the likelihood of recurrence.

Aim of the study. To study the morphological structure of scar tissue in patients with uterine scar defects (USD) after cesarean section (CS), as well as the effect of changes in mechanical stress in the area of the newly formed scar after metroplasty. Material and methods. A comparative prospective study was performed, which included 113 patients with USD after CS operations interested in repeat pregnancy. All patients underwent metroplasty with laparoscopic access, including 61 patients — using the standard technique; 52 — using the method with shortening of the round ligaments of the uterus. In all cases, a histological examination of the excised scar tissue was performed; in 18 patients (5 without undifferentiated connective tissue dysplasia (UCTD), 13 with UCTD), a histochemical examination of the excised scar tissue was performed; in 7 patients, a molecular genetic examination of endometrial biopsies from the area of the newly formed scar after metroplasty was performed. Results. As a result of the histological examination, it was established that the scar tissue of patients with UCTD is morphologically represented in 76.9% by fibrous-muscular tissue, in 14.4% by fibrous tissue, and in 8.7% by fibrous-muscular tissue with inclusion of fat. When assessing the structure of scar tissue in patients with UCTD and without UCTD, a number of differences were revealed. In the samples obtained from patients with uCTD, a more chaotic arrangement of collagen fibers was noted, their area was 57.15% smaller (p=0.01), the collagen content was 52.5% lower (p<0.0001). When assessing the effect of the number of CS operations in the anamnesis on the structure of scar tissue in patients with uCTD, it was found that with an increase in the number of CS operations to 2, a progressive decrease in the number of collagen fibers by 39.2% (p=0.0454), as well as an increase in the severity of mucoid swelling (p=0.037) were noted. Molecular genetic research revealed differences in gene expression in the endometrial biopsy after metroplasty with and without shortening of the round ligaments. 26 genes belonging to different functional groups were identified, the mRNA levels of which differed in the endometrial samples of patients after metroplasty with and without shortening of the round ligaments. Conclusion. Undifferentiated connective tissue dysplasia and an increase in the number of cesarean sections in anamnesis in combination with undifferentiated connective tissue dysplasia play a pronounced negative role in the pathogenesis of the formation of uterine scar defects after cesarean section. Differences in gene expression revealed in endometrial biopsies from the scar area after metroplasty with and without shortening of the round ligaments of the uterus indirectly confirm the effect of changes in mechanical stress in the area of the newly formed scar on the reparative process.

Connective tissue dysplasia (CTD) is a common condition in children and is characterized by a variety of manifestations of the musculoskeletal and cardiovascular systems. The aim of this study was to assess the frequency, age distribution, and clinical features of CTD in children aged 3-16 years. A total of 375 children (3-16 years) were examined for signs of CTD. Clinical evaluation included analysis of musculoskeletal signs (joint hypermobility, scoliosis, flat feet, chest deformities, muscle hypotonia), phenotypic features (asthenic body type, auricular anomalies, arachnodactyly, dolichostenomelia), and cardiovascular disorders (mitral valve prolapse, conduction disturbances, accessory chords and trabeculae). Children were divided into age groups (3-7, 8-10, 11-16 years) and CTD severity (grades 1-3) to analyze the prevalence and characteristics of clinical manifestations. Signs of CTD were identified in 75 children (20%). Most cases were mild forms (grade 1- 12.8%), moderate forms (grade 2) were less common (5.9%), and severe forms (grade 3) were extremely rare (1.3%). The most common musculoskeletal manifestations were joint hypermobility (78.7%), asthenic body type (61.3%), scoliosis (54.7%), and flat feet (42.7%). Cardiovascular disorders, including mitral valve prolapse (84%) and conduction abnormalities (65.3%), were observed in all age groups. The severity of manifestations increased with the degree of CTD, whereas age differences were more pronounced for scoliosis and cardiac changes. CTD in children is characterized by a persistent set of musculoskeletal and cardiovascular manifestations across various age groups, with the severity of symptoms correlating with the degree of dysplasia. Early detection and systematic clinical evaluation are essential for identifying risk groups and implementing preventive strategies for potential complications.

Subject: indicators of the humoral immunity link, systemic and dental dysplastic manifestations. Objectives: to study the indices of the humoral immunity link of patients with various forms of pericoronitis and connective tissue dysplasia (CTD). Methodology. The study involved 327 women who were divided into two groups: with the presence of established connective tissue dysplasia (n = 142) and without it (n = 185). The humoral immunity in the examined women (30 with CTD and chronic pericoronitis, 30 with CTD and acute pericoronitis, 30 without CTD and chronic pericoronitis) was evaluated by determining immunoglobulins, CIC, C3- and C4-components of complement by radical immunodiffusion. Interleukin-6, interleukin-10 of blood plasma were evaluated by enzyme-linked immunosorbent assay. Results. It was found that immunologic changes in chronic pericoronitis against CTD background were manifested by increased concentration of CIC (198.52 ± 5.98, opt. den.), IgG (14.77 ± 1.23, g/l), decreased production of IgA (2.89 ± 0.27, g/l), IL-10 (12.72 ± 0.14, pg/ml) (p < 0.05). In acute pericoronitis against CTD background, the opposite immunologic picture was noted, associated with decreased concentration of serum CIC (123.85 ± 4.12, opt. den.) and decreased production of IgA (1.42 ± 0.05, g/l), IgG (11.87 ± 0.74, g/l), IL-10 (12.88 ± 0.28, pg/ml) (p < 0.05). Analyzing the frequency of early and late complications in acute pericoronitis, lower third molars eruption disorder in the postoperative period in the compared groups, their diversity was found to be greater in the group of the examined with connective tissue dysplasia (jaw alveolitis, jaw periostitis, bleeding (bulbous), phlegmons and abscess of the mouth area). Conclusions. The revealed immunologic abnormalities in the humoral link increase the risk of purulent-septic complications in the group with connective tissue dysplasia.

Introduction. Today, the problem of weak core muscles in the postpartum period, primarily pelvic floor descent and diastasis recti in women of reproductive age, is becoming a significant challenge for practical medicine. Aim. A comprehensive assessment of urogenital symptoms and manifestations of sexual dysfunction in the formation of parameters of quality-of-life components in primiparous women after urgent delivery. Materials. The study was conducted in two groups of patients aged 18 to 35 years: 60 patients with signs of pelvic floor dysfunction and diastasis recti (main group) and 60 women who did not have these symptoms (comparison group). Patients were included in the study 6 months after the first full-term spontaneous delivery in cephalic presentation with minimal signs of pelvic floor dysfunction and diastasis recti detected during a routine examination. The following validated questionnaires were used: the International Conference on Incontinence Questionnaire-Short Form (ICIQ-SF), the Female Sexual Function Index (FSFI), the Functional Pelvic Pain Scale (FPPS), and the MOS SF-36 quality-of-life score. The statistical processing of the results was performed in the Windows 7 operating environment using the statistical software ‘Statistica 6.0’. Results. Inheritance of genital prolapse was noted in more than a third of patients in the main group (38.3%), signs of undifferentiated connective tissue dysplasia (UCTD) were found in almost half of the observations (43.3%), the most significant were complications in childbirth, birth trauma (61.7%) and shoulder dystocia (13.3%). The main complaints were pain in the lower back and pelvis (56.7%), perineal pain (31.7%), increased transient urinary incontinence (26.7%), increased secretory function (36.7%), recurrent vaginal dysbiosis (48.3%), dyspareunia (31.7 %), lack of sexual desire and reduced sexual activity (38.3 %). Most patients noted a prolonged recovery time for sexual activity after childbirth (more than 10 weeks) and the presence of a cosmetic defect of the perineum and anterior abdominal wall. Vaginal relaxation syndrome (loss of vaginal wall tone and elasticity, increased vaginal volume), as well as urinary incontinence, was quite common in almost every fifth patient (26.7% of observations). It should be noted that the proportion of psycho-emotional manifestations such as postpartum depression, anxiety, tokophobia has increased in almost every fourth patient. The dysfunction of the muscles of the anterior abdominal wall and pelvic floor has negative influence on psychological health of women, as demonstrated by differences in the average indicators of vital activity (66.7±3.2 points) social functioning (71.6±2.4 points), role functioning due to emotional state (62.8±1.5 points) and mental health (61.6±2.4 points) compared to the comparison group (82.6±1.4 points) (p<0.01). In 19 (31.7 %) patients of the main group, the lowest mental health score (less than 60 points) was noted, which is associated with an increase in anxiety, depressive disorders and a decrease in the proportion of positive emotions. Conclusions. This study established a correlation between pregnancy and childbirth in primiparous women and the prevalence of disorders such as low back pain, pelvic and perineal pain, urinary incontinence, fecal incontinence, and sexual dysfunction. These symptoms in young primiparous women are often asymptomatic and remain undiagnosed; however, in the late postpartum period, they lead to the development of psycho-emotional disorders in one out of four patients and negatively affect the psychological component of quality of life.

Objective: To develop a method for predicting the risk of primary and recurrent anterior abdominal wall hernias based on the analysis of currently available diagnostic tools for assessing connective tissue status in patients. Material and methods. A comprehensive study of genome-wide association study (GWAS)-significant genetic markers, skin autofluorescence indices, and morphological changes in the skin was conducted in a cohort of 577 patients, including 299 individuals with anterior abdominal wall hernias and 278 without hernias or clinical signs of connective tissue dysplasia. An artificial neural network model was developed based on the collected data to determine the relative significance of the investigated etiopathogenetic factors. Additionally, a correlation analysis of independent variables was performed to identify associations with the diagnosis of anterior abdominal wall hernia. Binary logistic regression was used to calculate the probability of hernia occurrence or recurrence based on the identified variables. Results. Patients with anterior abdominal wall hernias demonstrated significantly lower collagen type I to type III ratios and decreased skin autofluorescence indices. Genotypic association analysis revealed a statistically significant link between the rs2009262 polymorphism of the EFEMP1 gene and increased hernia risk (p=0.033). Further evaluation using neural network analysis and correlation studies identified three independent and statistically significant predictors for hernia development: the rs2009262 EFEMP1 polymorphism, skin autofluorescence index, and collagen type I/III ratio. Conclusion: The developed predictive approach allows for individualized assessment of anterior abdominal wall hernia risk and the likelihood of recurrence in each patient.

Connective tissue dysplasia (CTD) is a genetically determined disorder associated with impaired synthesis and structure of collagen, elastin, and other components of the extracellular matrix. Children with CTD are at high risk of developing nutritional deficiencies that aggravate structural and functional disorders of connective tissue. This review analyzes modern approaches to assessing and correcting nutritional status in pediatric CTD, emphasizing evidence-based nutritional, metabolic, and nutraceutical interventions. Individualized correction of protein, vitamin, and trace element deficiencies significantly improves metabolic balance, functional adaptation, and quality of life in affected children.

Aim of study. The study aimed at investigating the role played by congenital connective tissue failure in the temporomandibular joint (TMJ) dysfunctional disorders, while relying on the data obtained through histological and morphometric analysis of the intracapsular ligament set. Material and methods. The respective pathomorphological studies (visual examination, histomorphometry) were performed on 26 bodies of certified persons (aged 18–45) killed in accidents, with preserved dentition. The objects of the study were intracapsular ligaments isolated from 52 TMJ sets. The sectional material was divided into 2 groups, namely, Group 1 (n=11) – individuals featuring no phenotypic markers of undifferentiated connective tissue dysplasia (UCTD); Group 2 (n=15) – individuals with phenotypic manifestations of UCTD. When identifying collagen fibers on micro-preparations of TMJ intracapsular ligaments, the Masson trichrome staining method (Goldner modification with light green) was employed. Computer morphometric examination (ImageJ and ACDSee Photo Studio Ultimate 2021 software) involving micro-preparations was used to study the quantitative indicators of collagen fibers (specific surface area, thickness, staining intensity, degree of spatial ordering) as well as the vascular system (share obliterated vessels VS. the total number of vessels). Results. The specific features of the collagen fibers microstructure of TMJ ligament set in patients with UCTD markers, unlike in Group 1, included bundle (strand) branching into separate thinned threads; spiral-like twist of fibers; reduced uniformity of the contact spot and density between the fiber fibrils; expanded inter-fiber spaces; increased number of tendinocyte nuclei, and a smaller vascular network along with an increase in the number of vessels bearing signs of endotheliosis. Changing quantitative factors of collagen fibers of the TMJ intracapsular ligaments in Group 2 (if matched against data obtained from cases with no collagenopathy) can be described (by Me) with an insignificant (p≥0.05) decrease in specific surface area (1.10 times); thickness (1.19 times), staining intensity (1.06 times). Moreover, the decrease in the level of spatial arrangement of fibers (2.63 times) against the background of an increase in the proportion of obliterated vessels in the entire volume of the vascular bed (3.38 times) turned out to be statistically significant (p<0.05). Conclusion. Changes in the structure and fibro-angio-architectonics of the TMJ intracapsular ligaments in individuals with signs of UCTD result in a disturbance affecting the correct position of intraarticular disc relative to the lower jaw condylar process head. The dysplastic changes in the linear, volumetric and spatial parameters of collagen fibers, manifested through enhanced extension (compliance), lack of stability, and lower elasticity of the capsule-ligament joint set, promote dislocations of intraarticular structures along with internal TMJ issues, as well as they are behind a rapid progression of destructive processes in the joint tissues. Цель исследования. Изучение роли врожденной несостоятельности соединительной ткани в развитии дисфункциональных нарушений височно-нижнечелюстного сустава (ВНЧС) по результатам гистологического и морфометрического анализа внутрикапсулярного связочного аппарата. Материал и методы. Патоморфологические исследования (визуальный осмотр, гистоморфометрия) выполнены на 26 трупах паспортизированных лиц, погибших от несчастных случаев в возрасте 18–45 лет, с сохраненными зубными рядами. Объекты исследования – внутрикапсулярные связки, выделенные из 52 органокомплексов ВНЧС. Секционный материал распределен на 2 группы: 1-я группа – лица (n=11) без фенотипических маркеров недифференцированной дисплазии соединительной ткани (НДСТ); 2-я группа – субъекты (n=15) с фенотипическими проявлениями НДСТ. При выявлении коллагеновых волокон на микропрепаратах внутрикапсулярных связок ВНЧС использовали метод трехцветного окрашивания по Массону в модификации Голднера со световым зеленым. При компьютерной морфометрии в программах ImageJ и ACDSee Photo Studio Ultimate 2021 на микропрепаратах изучены количественные показатели коллагеновых волокон (удельная площадь поверхности, толщина, интенсивность окрашивания, степень пространственной упорядоченности) и сосудистой системы (доля облитерированных сосудов к общему числу сосудов). Результаты. Особенностями микроструктуры коллагеновых волокон связочного аппарата ВНЧС у лиц с маркерами НДСТ в отличие субъектов 1-й группы является разветвление пучков (тяжей) на отдельные истонченные волокна, спиральная извитость волокон, сокращение равномерности контактов и плотности между фибриллами волокон, расширение межволоконных промежутков, прирост числа ядер тендиноцитов, уменьшение сосудистой сети наряду с увеличением числа сосудов с признаками эндотелиоза. Изменения количественных показателей волокон коллагена внутрикапсулярных связок ВНЧС у субъектов 2-й группы по отношению к данным у лиц без коллагенопатии характеризуются (по Ме) недостоверным (р≥0,05) уменьшением удельной площади поверхности (в 1,10 раза), толщины (в 1,19 раза), интенсивности окрашивания (в 1,06 раза), а сокращение уровня пространственной организации волокон (2,63 раза) при увеличении доли облитерированных сосудов в общей массе сосудистого русла (3,38 раза) являются статистически значимыми (р≤0,05). Заключение. Изменения структуры и фиброангиоархитектоники внутрикапсулярных связок ВНЧС у лиц с признаками НДСТ приводят к нарушению функции удержания внутрисуставного диска в правильной позиции по отношению к головке мыщелкового отростка нижней челюсти. Диспластико-обусловленные изменения линейных, объемных и пространственных показателей коллагеновых волокон, проявляющиеся повышенной растяжимостью (податливостью), отсутствием стабильности, снижением упругости капсулярно-связочного аппарата сочленения, способствуют возникновению дислокаций внутрисуставных структур с формированием внутренних нарушений ВНЧС, а также быстрым прогрессированием деструктивных процессов в тканях сустава.

Backgraund.Despite the development of surgical techniques, the recurrence rate of postoperative hernias (PH) remains high. There is increasing evidence in the literature on the role of connective tissue pathology in the development and recurrence of postoperative ventral hernias Aim.Establish the relationship between the severity of connective tissue dysplasia (CTD) and the results of plastic PH also identify the correspondence between the phenotypic and morphological signs of CTD in patients with PH. Materials and methods.The study was conducted on the basis of the "Petrovsky National Research Centre of Surgery" and GBUZ "GCB No. 52 DZM" from 2018 to 2024. The main group consisted of 91 patients with postoperative hernia, the control group consisted of 10 patients who underwent surgery with a history of laparotomy, but without the formation of PH. The groups are identical in age, gender ratio, and comorbidity. 25 plastic surgeries were performed with local tissues and 66 with the use of a mesh prosthesis, morphometric studies of aponeurosis for the ratio of type 1 and type 3 collagen were performed in 50 patients. All patients were assessed for the severity of external signs of connective tissue dysplasia using the Luzgina-Shkurupiya method. The reliability of differences between the groups in the number of hernia recurrences was assessed for each group by the coefficient of statistically significant differences calculated using the Pearson's χ2 criterion. The ratio of collagen types was calculated by analyzing micrographs based on a color histogram in Adobe Photoshop with the calculation of the average number of pixels of different colors for the entire preparation: type 1 collagen - red spectrum, type 3 – green. Quantitative indicators were evaluated for compliance with the normal distribution using the Shapiro-Wilk criterion. Quantitative indicators, the sample distribution of which corresponded to the normal, were described using arithmetic averages (M) and standard deviations (SD). The boundaries of the 95% confidence interval (95% CI) were indicated as a measure of representativeness for the mean values. A comparison of three or more groups by a quantitative indicator, the distribution of which in each group corresponded to the normal one, was performed using a one-factor analysis of variance, aposteriori comparisons were carried out using the Tukey criterion (assuming equality of variances). The differences were considered statistically significant at p 0.05. Results.When comparing patients with PH and dysplasia of mild and severe severity, statistically significant differences in the number of relapses were revealed, including with mesh plastics (P0.05). Statistically significant (P0.05) differences in the number of pixels were found, reflecting the ratio of type 1 and type 3 collagen, in the direction of an increase in type 3 collagen with an increase in the severity of connective tissue dysplasia Conclusions.It was found that the probability of PH recurrence significantly increases with increasing severity of CTD, therefore, assessment of the severity of CTD is an important element in the treatment of patients with PH. This makes it possible to prevent the recurrence of PH by choosing the most appropriate surgical technique. Diagnosis of CTD is carried out by phenotypic and morphological methods. The study proved that there is a direct relationship between the phenotypic manifestations of CTD and its morphological features. Therefore, both methods can be adequately applied to assess the severity of CTD.

Spontaneous coronary artery dissection (SСAD) is a rare but potentially dangerous cause of acute coronary syndrome, especially in young women without traditional risk factors for cardiovascular diseases. Etiological factors include fi bromuscular dysplasia, hereditary arteriopathies, systemic infl ammatory diseases, and hormonal changes. Despite the progress in diagnosis, the treatment of DMCA remains a diffi cult task due to the high variability of clinical manifestations and the lack of a single standard of therapy. The case of a young patient hospitalized with a ST-segment elevation myocardial infarction clinic, which occurred against the background of intense physical exertion, is presented. Coronary angiography (CAG) revealed spontaneous dissection of the branches of the left coronary artery. The progression of dissection was noted during CAH, which required repeated stenting and the use of mechanical circulatory support (VA-ECMO, IABC). Despite the treatment, the patient maintained unstable hemodynamics and the progression of multiple organ disfunction, which led to death. Histological examination revealed connective tissue dysplasia cannot be excluded, which could be a predisposing factor for the development of coronary artery dissection. Clinical recommendations suggest conservative management of stable patients, however, revascularization is indicated in the presence of complications such as cardiogenic shock. In this case, the invasive tactics did not affect the prognosis.The above case demonstrates the complexity of diagnosis and management of patients with SDCA. Further research is needed to develop optimal treatment strategies and identify genetic markers predisposing to the development of this pathology.

The literature review presents the problems of congenital connective tissue disorders, characterized by multifactorial origins, associated with aggressive factors from the external and internal environment, manifesting as various general and local phenotypic traits. Anatomical-topographic changes in congenital collagenopathy of the organs and tissues of the oral cavity negatively impact the functional activity of the entire dental and jaw system, indicating their biological interconnection which correlates with each other. According to the results of the conducted studies, the most common dental and jaw anomalies in children and adolescents with dentofacial abnormalities are distal occlusion, narrowing and deformation of the dental-alveolar arches of the upper and lower jaws, and deep incisor overlap. As of today, the prevalence of dental and jaw anomalies does not show a tendency to decrease, and their combination with DSD in children and adolescents is insufficiently studied, which requires further research aimed at early detection of local phenotypic signs and improvement of socio-medical rehabilitation with an interdisciplinary approach.

Relevance. Connective tissue development disorders are characterized by a wide polymorphism of clinical manifestations. Complications that develop on their basis often have severe consequences and significantly worsen the patient's quality of life. Clinical diagnostics of hereditary connective tissue dysplasias is quite a complex task, due to the wide range of clinical manifestations, but also an important part of successful diagnostics. One of the common variants of connective tissue dysplasia is collagenopathies. Objective: to analyze the molecular genetic causes of collagenopathies and determine the features of their clinical manifestation. Results. The molecular genetic basis for the development of collagenopathies is analyzed. Modern concepts of the structure of connective tissue, its functions and the formation of collagen fibers are considered. Clinical features of various variants of syndromic collagenopathies, their molecular genetic causes and functions of 28 types of collagen are shown. The main non-syndromic types of collagenopathies are given. Conclusion. Diagnosis of hereditary pathology, in particular, variants of collagen fiber structure disorder, is a rather complex task, and the final diagnosis is determined using expensive DNA diagnostics. In this regard, understanding the clinical features and molecular genetic basis of hereditary collagenopathies, as well as their systematization for successful diagnosis and timely effective treatment, is of particular importance.

Research purpose. To learn the features of endocrinological and immunological status at gynaecological morbidity for women with connective tissue dysplasia. Materials and methods. To implement our goals by us an inspection and treatment was conducted 688 patients reproductive, pre- and postmenopausal periods. In accordance with a purpose and research tasks four groups of patients were plugged in the real work, in each of which selected a group with connective tissue dysplasia and without it. Clinical, laboratory, instrumental and statistical methods were plugged in the complex of the conducted researches. Results. At the comparative analysis of indexes of immune status for patients with connective tissue dysplasia and without it, it is possible to draw conclusion, that the results of IgG and IgA in both groups do not differ practically. Women have levels of IgМ a bit higher with connective tissue dysplasia. The most meaningful differences are at comparison of results of IgЕ, circulatory immune complexes, C3- and C4-component of complement. Amount of IgE for the patients of reproductive period with pathology of connecting fabric almost at 1,5 time more than for patients without connective tissue dysplasia. For the women of pre- and postmenopausal periods with connective tissue dysplasia fabric except for the reliable increase of level of IgЕ the increase of amount of circulatory immune complexes is marked at 1,8 time, decline of C3- C4-component to complement respectively in 1,8 and 1,5 times. Conclusion. At insignificant changes in the indexes of immune status there is not a necessity for setting of immunomodulatory therapy. And only at considerable changes and in the case of worsening of indexes of immune status during a dynamic supervision it is necessary to decide a question about setting of immune preparations. Findings must be taken into account at development of algorithm of treatment-and-prophylactic measures.