Undifferentiated Connective Tissue Dysplasia Research Articles

QUERCETIN AS A POTENTIAL THERAPEUTIC AGENT IN HYPERTENSION COMPLICATED BY CONNECTIVE TISSUE DYSPLASIA

This article summarizes data on the effect of quercetin during the treatment of arterial hypertension, complicated by connective tissue dysplasia. Currently, numerous studies are being conducted to study the role of various genes in the development of arterial hypertension. One of the risk factors for hypertension, which remains insufficiently studied, is collagen pathology - undifferentiated connective tissue dysplasia (UND). The presence of connective tissue in all organs and systems, its common origin with mesenchyme, smooth muscle, blood, and lymph leads to dysplastic changes in any organ and system. Among the many metabolic agents in the treatment of hypertension in combination with DST, the bioflavonoid quercetin, which has a pronounced antioxidant effect, deserves the most attention. The use of water-soluble quercetin in the complex therapy of patients with hypertension in combination with DST reduces the frequency of recurrence of hypertensive crises in the post-hospital period, reduces the number of complications, leads to a decrease in blood stabilization, pressure, additional hypotensive effect.

Stigmas of dysembryogenesis of undifferentiated connective tissue dysplasia in bronchial asthma

Connective tissue dysplasia is a disturbance of its development during embryogenesis and the postnatal period due to genetically altered fibrillogenesis of the extracellular matrix. Undifferentiated connective tissue dysplasia (UCTD) includes a set of phenotypic characteristics that do not fit into any already known dysplastic syndrome or phenotype. It is this pathology of connective tissue that is widespread and is constantly encountered in the practice of doctors of various profiles, serving as the basis for the formation of various chronic diseases. As for bronchial asthma (BA), it is quite natural that studies have appeared to identify the characteristics of the course of BA with connective tissue dysplasia, primarily in children. It has been shown that asthma in children associated with connective tissue dysplasia has a number of clinical features: an earlier onset of the disease, a higher incidence of concomitant diseases, and a more severe course. The features of the course of bronchial asthma associated with connective tissue dysplasia in adults have been practically not studied. Our very first results from a study of adult patients with BA showed that in patients with a mild course of the disease, up to 3 stigmas of disembryogenesis were recorded, in patients with a moderate course - from 2 to 4, and in patients with a severe course - from 1 to 8 stigmas. Correlation analysis (the data was obtained on a small material, therefore we do not consider it statistically significant) provides a distinct basis for continuing the study. Thus, negative correlations have been identified between the presence of stigmas (myopia, dolichostenomelia, joint hypermobility, wide atrophic scars, varicose veins) and such an important characteristic of the disease as its controllability.

FUNCTIONAL STATE OF RENAL PARENCHYMA IN CHILDREN WITH DYSMETABOLIC NEPHROPATHY

Abstract. Metabolic nephropathy in children is a relevant issue in our time, as the prevalence of this disease is increasing. Negative consequences of metabolic nephropathy include a gradual deterioration of kidney function. A significant aspect is the fact that metabolic nephropathy can lead to the development of chronic kidney disease in children. Chronicity requires continuous medical monitoring and treatment to support kidney function and prevent further complications, such as renal insufficiency and other metabolic disorders. There is no doubt that one of the leading pathogenetic factors in kidney dysfunction is hypoxia. It can be caused by both hemodynamic disturbances associated with renal pathology and tissue respiration disorders in congenital dysplasia of the kidney's connective tissue, which arises in the embryo under the influence of epigenetic factors in utero and is further exacerbated by various epigenetic factors in postnatal life. Purpose of the work to investigate the functional state of kidney parenchyma in children with dysmetabolic nephropathy. Materials and methods. Two groups of children were examined: those with a complicated course of dysmetabolic nephropathy, a history of inflammatory episodes of the urinary system organs (Group I - UN, 52 children), and dysmetabolic nephropathy with persistent crystalluria (Group II - DN, 56 children). A control group consisted of 65 healthy children. Tubular reabsorption, as a partial function of the proximal segment of the nephrons, was assessed based on urinolysis test data, specifically the levels of excretion of inorganic phosphates, proteinuria, amino acids, reduced sugars (maltose, sucrose, fructose by Benedict's test), glucose (by Gaines's test), and calcium (by Sulcovitch's test). The level of creatinine and glycosaminoglycan (GAG) excretion in daily urine in children with dysmetabolic nephropathy was determined and compared with data from healthy children in the control group. Research results. In children from both observation groups, a significantly high frequency of hyperphosphaturia (94.23% and 96.42%), calciuria (94.23% and 89.28%), glucosuria (78.85% and 73.21%), increased excretion of amino acids in the urine (40.38% and 37.5%), microproteinuria (32.69% and 28.57%), and increased excretion of reduced sugars (28.85% and 26.79%) were observed. The daily excretion of creatinine, glycosaminoglycans, and oxypyrrolidine in the urine of children with dysmetabolic nephropathy indicates a significantly reduced level of creatinine in the daily urine in the majority of children in Group I (0.56±0.19 g/L, 80.77% of those examined) and more than half of the children in Group II (0.83±0.08 g/L, 57.14% of those examined), compared to the data from healthy children in the control group (1.25±0.75 g/L, 0.0%). Conclusions. The analysis of the functional state of the kidney tissue in oxalate dysmetabolic nephropathy in children allows us to testify to the presence of tubular and glomerular partial renal tissue failure. Significant decreases in creatinine excretion and increased excretion of glycosoaminoglycans in the urine and significantly higher levels of oxyproline in the urine indicate the presence of glomerular type partial renal failure in oxalate dysmetabolic nephropathy in children and the presence of undifferentiated dysplasia of the renal connective tissue with the onset of its sclerosis with subsequent transition to interstitial nephritis. The presence of these changes in the vast majority of children with complicated course of oxalate dysmetabolic nephropathy in the period of clinical and laboratory remission of the inflammatory process indicates the priority of renal connective tissue dysplasia and paucity of renal failure in the pathogenesis of dysmetabolic nephropathy and its severity in children. Indicators of oxyproline creatinine, glycosoaminoglycans and oxyproline excretion can be used as epigenetic markers of susceptibility to dysmetabolic nephropathy in general and its more severe course in particular. Keywords: dysmetabolic nephropathy, functional state, kidney parenchyma, nephron.

Hormonal and metabolic disorders in connective tissue dysplasia

The lecture considers the results of research conducted by Russian and foreign scientists concerning the characteristics of all types of metabolic disorders and hormonal imbalance in undifferentiated connective tissue dysplasia (CTD). Understanding the role of hormonal and metabolic disorders in the development and course of diseases associated with CTD is of great importance for the development of pathogenetically grounded algorithms for the diagnosis, treatment, and prevention of emergency conditions.

Недифференцированная дисплазия соединительной ткани у женщин репродуктивного возраста: одномоментное исследование

Недифференцированная дисплазия соединительной ткани у женщин репродуктивного возраста: одномоментное исследование

Peripheral Blood Gene Expression Profiling Reveals Molecular Pathways Associated with Cervical Artery Dissection.

Cervical artery dissection (CeAD) is the primary cause of ischemic stroke in young adults. Monogenic heritable connective tissue diseases account for fewer than 5% of cases of CeAD. The remaining sporadic cases have known risk factors. The clinical, radiological, and histological characteristics of systemic vasculopathy and undifferentiated connective tissue dysplasia are present in up to 70% of individuals with sporadic CeAD. Genome-wide association studies identified CeAD-associated genetic variants in the non-coding genomic regions that may impact the gene transcription and RNA processing. However, global gene expression profile analysis has not yet been carried out for CeAD patients. We conducted bulk RNA sequencing and differential gene expression analysis to investigate the expression profile of protein-coding genes in the peripheral blood of 19 CeAD patients and 18 healthy volunteers. This was followed by functional annotation, heatmap clustering, reports on gene-disease associations and protein-protein interactions, as well as gene set enrichment analysis. We found potential correlations between CeAD and the dysregulation of genes linked to nucleolar stress, senescence-associated secretory phenotype, mitochondrial malfunction, and epithelial-mesenchymal plasticity.

The importance of polymorphism of the COL1A1 gene in the development of pelvic organ prolapse in women of childbearing age

Pelvic organ prolapse (POP) is a chronic slowly progressive disease. One of the most significant risk factors for the formation of omissions and prolapses of the internal genitalia is connective tissue diseases. Type I collagen is the most common protein of the intercellular substance of connective tissue, mutation of the COL1A1 gene encoding it leads to the synthesis of a defective protein. The aim of our study was to investigate the significance of COL1A1 gene polymorphism in POP development and in the occurrence of relapses of the disease in operated patients of different age groups. Material and methods. The study included 68 patients with verified pelvic organ prolapse, divided into two age groups (n = 34 in each): the first group included women aged from 23 to 44 years, the second – aged from 46 to 72 years. In all patients, the presence of manifestations of undifferentiated connective tissue dysplasia (UCTD) was assessed, a laboratory study of the polymorphism gene COL1A1 was conducted and the content of type 1 C-terminal collagen peptide (β-CrossLaps) in venous blood was measures. Results and discussion. 86.8 % of the examined patients had clinical signs of UCTD. Statistical analysis indicates that there is a relationship of the frequency of UCTD detection and severity of manifestations with age: the age of the patients with moderate to heavy UCTD (38 [37; 41] years, median [lower quartile; upper quartile]) was statistically significantly lower than that of the women with light degree (45.5 [38; 62] years; p < 0.001 years) and without UCTD (56 [48; 65] years; p < 0.001). There were no statistically significant differences in the polymorphism of the COL1A1 gene between patients under 45 (1 group) and over 45 (2 group) (p = 0.25), however, there is a tendency to decrease the frequency of G/G and increase T/T types of polymorphism in women of reproductive age. In patients with recurrent POP after surgical treatment, G/G polymorphism was less common (p < 0.001) and G/T was more common (p = 0.04). The level of β-CrossLaps was higher than the normative level in 8.8 % of the examined women; in 2 cases of identified heterozygous (G/T) polymorphisms, its significant rise was noted. ROC analysis performed to identify the relationship between age, gene COL1A1 polymorphism, signs of UCTD and the level of β-CrossLaps indicates the effectiveness of the integrated use of these indicators as predictors of POP development in women of the reproductive period. Conclusions. The results of the study suggest that the features of gene COL1A1 polymorphism, the level of β-CrossLaps can serve as predictors of the development of POP in women of reproductive age with clinical manifestations of signs of UCTD. Complex of these indicators allows to develop a prognostic model of POP early manifestation.

Вміст сироваткової матриксної металопротеїнази-1 та тканинного інгібітора матриксної металопротеїнази-1 у новонароджених від матерів із недиференційованою дисплазією сполучної тканини

Laboratory markers of undifferentiated connective tissue dysplasia (UCTD) are indicators of the matrix metalloproteinases (MMP) system, which are involved in the remodeling of connective tissue components, morphogenesis, inflammation. Purpose - to analyze the correlation between signs of UCTD in postpartum women and the level of serum MMP-1, tissue inhibitor of MMP-1 (TIMP-1) and the MMP-1/TIMP-1 ratio in newborns. Materials and methods. We examined 122 women in labor and their 122 newborn children with a gestational age (GA) of 28-42 weeks, a body weight (BW) of 1270-4070 g. Clinical and anamnestic data and biochemical markers (level of serum MMP-1, TIMP-1, MMP-1/TIMP-1) were investigated in children. Clinical signs of UCTD in women in labor were registered. The main group (n=82) involved women with ≥3 UCTD markers, the control group (n=40) consisted of women with ≤2 UCTD features and their newborns. Accordingly, the main group of newborns - children from mothers with ≥3 markers of UCTD, the control group - babies from mothers with ≤2 signs of UCTD. For statistical analysis, Mann-Whitney (U) test and Cramer’s coefficient (φc) were used. Results. Newborns of the main group had a longer GA (U=1069.5; p=0.002), a lower Apgar score (U=1522.5; p=0.04), a smaller weight-for-age ratio (U=1511.0; p=0.038), higher concentrations of MMP-1 (U=55.0; p=0.000013) and higher values of the MMP-1/TIMP-1 (U=76.0; p=0.000323). The optimal range of MMP-1 in newborns is 2.72-3.91 ng/ml, TIMP-1 - 16.08-17.49 ng/ml, MMP-1/TIMP-1 - 0.16-0.24. MMP-1 concentration ranges ≥4.51 ng/ml and MMP-1/TIMP-1 values ≥0.31 were more typical for full-term infants (p<0.01) than prematurely born, and for children with lower BW (p<0.01). UCTD-associated obstetric complications were related to ranges of MMP-1 ≥4.51 ng/ml (p<0.001-0.05), TIMP-1 ≤16.07 ng/ml (p<0.05), MMP-1/TIMP-1 ≥0.31 (p<0.001-0.05) in children. Conclusions. UCTD in parturient mothers is an unfavorable factor in the formation of small weight-for-age ratio (p=0.038), a low postnatal adaptation (p=0.04), imbalance of serum MMP-1 (p=0.000013) and MMP-1/TIMP-1 (p=0.000323) in children. The optimal level of serum MMP-1 for newborns is 2.72-3.91 ng/ml, TIMP-1 - 16.08-17.49 ng/ml, MMP-1/TIMP-1 - 0.16-0.24. The values of MMP-1 ≥4.51 ng/ml and MMP-1/TIMP-1 ≥0.31 are markers of delayed physical development of the fetus (p<0.01). UCTD-associated obstetric complications are prognostically unfavorable for imbalance of MMP-1, TIMP-1, MMP-1/TIMP-1 in newborns. The research was carried out in accordance with the principles of the Helsinki Declaration. The study protocol was approved by the Local Ethics Committee of an institution. The informed consent to participate in the study was obtained from each mother. No conflict of interests was declared by the authors.

Features of anthropometric indicators as a phenotypic characteristic of undifferentiated connective tissue dysplasia syndrome

Aim: To determine the association of anthropometric indicators with the severity of dysplastic phenotype in the age group of 14–18 years.Material and Methods. An anthropometric survey of 382 volunteers was conducted according to the recommendations of Norton, Kevin on 54 indicators. Anthropometric numerical data of individual traits, as well as the calculated percentage and absolute amount of fat, muscle and bone components, and, accordingly, the coefficients of the predominance of ecto-, meso- and endomorphic components in the somatotype structure and indices were processed by methods of variational statistics to obtain averages. The analysis of indicators of physical development of adolescents (height for age, body mass index (BMI) for age) was carried out in accordance with the methodological recommendations of the World Health Organization on the Z-score system using the software “WHO AnthroPlus” v.1.0.4. for children 5–19 years old. The degree of severity of the phenotypic signs of undifferentiated connective tissue dysplasia (UCTD) was formed according to the point system, taking into account the presence of professional sports in the daily life of volunteers in the past and present.Results. The minimum severity of the dysplastic phenotype was registered in 20% of cases, the average – in 25% of the examined, pronounced signs of UCTD were observed in 55% of boys and girls. In the structure of anthropometric data, the indicators characterizing UCTD were revealed, especially with a pronounced degree of manifestation: high growth, an increase in chest circumference, the ratio of hand to height, foot to height and arm span to height (p < 0.05). Among the surveyed with pronounced signs of UCTD, 59% were engaged in professional sports, namely high-static, medium-dynamic disciplines (gymnastics, figure skating, volleyball, light and weightlifting). In the vector analysis of the components of the catfish examined with an average degree (7–14 points) and a pronounced UCTD phenotype (more than 14 points) are characterized by large endomorphy and mesomorphy indices (p < 0.05). With an increase in the severity of the UCTD phenotype, an increase in the number and change in the quality of associations of the average score of the scale of phenotypic manifestations with anthropometric parameters was registered.Conclusion. The wide prevalence of phenotypic signs of UCTD in a representative sample of children and adolescents in Tomsk was revealed. The relationship between the frequency of the main signs of UCTD and physical activity has been established. The constitutional features of the physique of persons with preclinical manifestations of UCTD are determined. Associations of the degree of severity of the UCTD phenotype with anthropometric parameters have been recorded. Taking into account the fact of genotypic conditioning of the physique and the hereditary nature of the dysplastic phenotype, as well as the data obtained, an anthropometric examination with the identification of the somatotype can be offered as a screening of UCTD.

Factors of risk of urogenital disorders during pregnancy and after births

The objective: to learn the factors of risk of urogenital disorders during pregnancy and births. Materials and methods. A basic group was made up of 51 patients with complaints about urogenital disorders. Verification of diagnosis, and determination of the type of disorders conducted based on filling of the urogynecological questionnaire, diaries of urination, results of functional tests, and ultrasonography of lower departments of urinoexcretory ways. The group of comparisons was made by 50 women who gave, without the signs of urogenital disorders. Results. High-frequency extragenital diseases which are the vascular displays of syndrome of undifferentiated connective tissue dysplasia for the women of basic group testifies that a generalization defect of connective tissue is one of the reasons for the manifestation of symptoms of urogenital disorders during pregnancy and after births for the women of reproductive age. Conclusion. The results must be taken into account in the development of a method of prognostication of urogenital disorders for women during pregnancy and after births.

Asthma in patients with the syndrome of undifferentiated dysplasia of connective tissue: peculiarities of the course or mutually aggravating mechanisms?

Aim: To analyse laboratory and biochemical features of the severe persistent course of asthma in patients with undifferentiated connective tissue dysplasia (UCTD) syndrome, and their phenotypic and visceral stigmas of dysembryogenesis. Materials and Methods: We enrolled 60 male patients with asthma, aged from 23 to 62 years (mean age (46.83 ±0.85) years): 30 patients with the background of UCTD, and 30 - without UCTD. We analysed clinical, somatometric, surveying (original questionnaire based on the phenotypic map of Glesby), instrumental (spirography, echocardiography, endoscopy, esophagofibrogastroduodenoscopy) and laboratory (including eosinophilic granulocytes and aldosterone levels) data. Results: Correlations were found in men with UCTD between the number of UCTD markers and rate of earlobe diagonal fold (r=+0.75; р<0.05), asthenic constitution (r=+0.72; р<0.05), easy bruising (r=+0.7; p<0.05) and straight abdominal line hernia (r=+0.52; p<0.05). Average aldosterone serum level in patients with UCTD (176,10 ±11,22) was significantly higher than in those without UCTD (142,77 ±9,43), (p<0.05), as well as average eosinophils levels (1.3 ±0.25 vs. 0.57 ±0.12, p<0.05). In the absolute majority of patients with UCTD (93.3%) asthma onset was confirmed after pneumonia, and their age of asthma manifestation was significantly higher (37.2 ±1.21) than in patients without UCTD (21.4 ±1.13). Also, in patients with UCTD there was a high number of severe exacerbations during the last year (2.7 ±0.12 per year) on the background of high doses of combined inhaled glucocorticosteroids use. Conclusions: Identified "phenotypic profile", clinical and biochemical features of patients with asthma on the background of UCTD syndrome, which determine the severe course and early formation of asthma complications, will further accelerate the diagnosis of this asthma phenotype and improve approaches to the selection of treatment regimens for these patients.

Нарушения метаболизма аминокислот крови и мочи у детей с диспластическими деформациями позвоночника и грудной клетки

The purpose — to study the content of amino acids in the blood and urine of children with undifferentiated connective tissue dysplasia, having spine and chest deformities. Material and methods. 81 children with undifferentiated connective tissue dysplasia aged 7–17 years were examined. The main group consisted of 49 children with spinal and thoracic deformities; the comparison group consisted of 32 children without spinal and thoracic deformities. The state of the free amino acid pool was assessed by thin-layer chromatography. The blood content and daily urinary excretion of 22 free amino acids and their derivatives were determined. Results. We found that in children with undifferentiated connective tissue dysplasia, changes in the content of proline in the blood were most common in 73 (90.1%) and hydroxyproline in 63 (77.8%) patients. In patients with spinal and thoracic deformities, the content of all 22 amino acids in the blood was changed; among children without spinal and thoracic deformities, the concentration of 11 amino acids was changed. Changes in the content of amino acids in the urine of children with undifferentiated connective tissue dysplasia were detected more often than changes in their content in the blood. At the same time, there were changes in the content of all amino acids in urine among patients. Most often, in children with undifferentiated connective tissue dysplasia, changes in the content of proline were recorded in urine in 73 (90.1%) and hydroxyproline in 65 (80.3%) patients. Less frequently, there was a change in the content of lysine — in 49 (49.4%), ornithine — in 32 (39.5%), phenylalanine — in 29 (35.8%). In children with deformities of the spine and chest, the altered content of amino acids in urine was more common than in patients without deformities. Conclusions. The revealed changes in the content of amino acids in the blood and urine of children with undifferentiated connective tissue dysplasia reflected a violation of their metabolism in the structural components of connective tissue, which led to a violation of its structure and functions. The formation of deformities of the spine and chest can be considered as a clinical manifestation of deep biochemical disorders of connective tissue metabolism in children with undifferentiated connective tissue dysplasia.

Результат комплексного подхода к диагностике и лечению коморбидного пациента: клинический случай

AIM. Show the feasibility and possibility of diagnosing and treating a comorbid patient (neurology, dentistry) MATERIAL AND METHODS. Clinical example of a patient with concomitant pathology; dynamic observation for 5 years. CASE PRESENTATION. A male patient has been observed in the clinic for 5 years. The positive dynamics of neurological and dental statuses as a result of therapeutic measures is shown. Undifferentiated connective tissue dysplasia was revealed, manifested by the following symptom complex: asthenic physique, Gothic palate, distal occlusion, ingrown earlobes, hypermobility of joints. Dynamic monitoring throughout the entire period of observation, diagnosis and treatment. In the neurological status, emotional and vegetative lability can be distinguished (the patient gets tired quickly, there is daytime drowsiness, there is a violation of concentration, and as a result, memory problems), sleep disturbance — insomnia. Manifested by difficulties falling asleep, frequent awakenings, restless sleep, with vivid dreams, as well as difficulties waking up (a symptom of sleep intoxication). RESULTS AND DISCUSSION. The dynamics and the result of the treatment process are presented using the example of a patient with comorbid pathology in the dental and jaw system. CONCLUSION. Patients with undifferentiated connective tissue dysplasia who have neurological and dental disorders should be observed as part of comorbid pathology, jointly by neurologists and dentists, to obtain successful results. KEYWORDS: emotional disorders, distal occlusion, sagittal fissure, connective tissue dysplasia, clinic, diagnosis, treatment

Diagnostic importance of phenotypic features of undifferentiated connective tissue dysplasia in spondylogenic vertebro-basilar insufficiency

Background: The circulatory insufficiency in the vertebrobasilar system is significantly influenced by the spondylogenic mechanism. To understand the degenerative-dystrophic changes in the cervical spine, an assessment of the connective tissue’s condition is required. The primary contributor to pathological conditions of connective tissue is undifferentiated connective tissue dysplasia (UCTD). Aim: To assess the predictive importance of constitutional-biological markers (CBM) of UCTD in patients with spondylogenic vertebro-basilar insufficiency. Materials and Methods: The research was carried out using the results of a comprehensive clinical and anamnestic examination of young patients with vertebrobasilar insufficiency. The study focused on investigating the main characteristics of CBM by comparing two groups of patients: one group with vertebrobasilar insufficiency (n = 136) and a control group without vertebrobasilar insufficiency (n = 136). The distribution of individual factors was analyzed using evidence-based medicine, modern clinical-statistical analysis methods such as variance and correlation analysis, as well as prognosis methods like serial analysis of Wald in modification of E.V Gubler to determine the diagnostic (I2, bit) and predictive value and impact factors of the different markers. Results: The most significant CBM for UCTD were found to be presence of structural imbalance, scoliosis or kyphosis of the cervical spine, flatfoot, and vision impairments. Conclusion: This study suggests that the diagnostic and prognostic value of CBM for UCTD is crucial in establishing a system of diagnostic and prognostic algorithms for evaluating the risk of developing vertebrobasilar insufficiency (SVBI).

Кардиальные проявления недифференцированной дисплазии соединительной ткани: роль молекул фиброза и воспаления

Кардиальные проявления недифференцированной дисплазии соединительной ткани: роль молекул фиброза и воспаления

Features of the course of type 1 diabetes mellitus and its complications against the background of undifferentiated connective tissue dysplasia

Changes in connective tissue against the background of hyperglycemia in patients with type 1 diabetes mellitus is a morphological substrate for the formation of diabetic complications. The presence of undifferentiated connective tissue dysplasia in a patient with absolute insulin deficiency, the prevalence of individual external manifestations of which among young people is 85.4%, can increase the risk of developing and progressing complications of diabetes mellitus. The purpose of the review is to summarize the literature data on the impact of undifferentiated connective tissue dysplasia on the course of type 1 diabetes mellitus and its complications when they are combined in one patient. An analysis of the literature has shown that today there are single studies that have studied the specifics of the course of type 1 diabetes mellitus and its complications against the background of undifferentiated connective tissue dysplasia, with some aspects analyzed in children and adolescents, others in adults, which does not allow to draw clear conclusions. The results of these studies demonstrated earlier development and progression of such diabetic complications as nephropathy, neuropathy, post-injection lipodystrophy in patients with increased dysplastic stigma. According to some experts, patients with type 1 diabetes mellitus and concomitant undifferentiated connective tissue dysplasia should be allocated to a separate group of dispensary observation, since they may have a higher risk of developing and progressing rate of chronic complications of diabetes mellitus, which leads to a concomitant decrease in quality of life and increased risk of disability. However, to date, the question of the influence of increased dysplastic stigmatization on the course of type 1 diabetes mellitus has not been fully studied.

Nediferencijuotos jungiamojo audinio displazijos paplitimas tarp vyresniųjų kursų studentų

Background. Connective tissue dysplasia is an important medical condition requiring attention and research. The aim. To analyse the prevalence of the clinical signs of undifferentiated connective tissue dysplasia among senior students of educational institution. Methods. 110 senior students (average age - 20 years) were examined (females 64 %, males 36 %). Joint hypermobility was assessed according to the Bayton scale, joint hypermobility syndrome according to the Brighton criteria. The main criteria for undifferentiated connective tissue dysplasia and the stigma of dysembryogenesis were studied: flat feet; deformities of the spine, chest; visual impairment etc. The state of the cardiovascular system and gastrointestinal tract was assessed by questioning and anamnestic data. Results. Joint hypermobility was the most common feature of undifferentiated connective tissue dysplasia, accounting for 62.7%. Malocclusion occurred in 36.8% of cases, visual impairment occurred in 32.7%, myopia in 21.8%, astigmatism in 4.5%, strabismus in 3.7%, and a combination of astigmatism and myopia in 2.7%. Abnormalities in the development of the dentition of the jaws were found in 29.1% of students. Deformities of the feet with a decrease in the longitudinal arch were diagnosed in 21.8% and spinal axis deviations in 21%. Conclusions. Undifferentiated connective tissue dysplasia in senior students was most often manifested by joint hypermobility, visual impairment, malocclusion, flat feet, scolytic deformities, and multiple stigmata of dysembryogenesis. Keywords: connective tissue dysplasia, joint hypermobility, diagnostics, students, stigma of dysembryogenesis, rehabilitation.

Structural features of the heart in children with arrhythmic syndrome due to nonspecific connective tissue disorder

Introduction. Connective tissue is highly organized system, its disorders are characterized by a pronounced polymorphism of morphological and clinical manifestations. The cardiovascular pathology in patients with nonspecific connective tissue disorder attracts attention due to the high risk of complications: rhythm and conduction disorders, infective endocarditis, vascular thromboembolism and sudden cardiac death. Therefore, it’s very important to use up-to-date equipment and methods of early diagnosis of a high risk of fatal events in young.Aim. To investigate the structural features of the heart and their relationship with the process of myocardial remodeling in children with arrhythmic syndrome and nonspecific connective tissue disorder.Materials and methods. Sixty-five children were examined, 40 of them had arrhythmic syndrome in combination with nonspecific connective tissue disorder, and 25 had only minimal manifestations of nonspecific connective tissue disorder without arrhythmic syndrome. Such up-to-date methods as assessment of myocardial remodeling and longitudinal strain, natriuretic peptide assessment were included in the diagnostic algorithm.Results and discussion. The study showed a variety of phenotypic and visceral markers of nonspecific connective tissue disorder in children with arrhythmic syndrome. Arrhythmic syndrome was manifested by monotopic and heterotopic heart rhythm disorders, and structural changes of the heart: mitral valve prolapse and myocardial wall thinning were correlated with a more frequent increase in natriuretic peptide. Speckle-tracking echocardiography showed a significant decrease in longitudinal myocardial strain with predominance of myocardial strain in the anterior basal segment in children with arrhythmic syndrome.Conclusion. Our study showed a variety of phenotypic and visceral markers of undifferentiated connective tissue dysplasia in children with arrhythmic syndrome. The data obtained require further mathematical analysis and the establishment of a possible relationship between the external manifestations of the disease and cardiac rhythm and conduction disturbances.

Analysis of differential expression of genes of structural and regulatory proteins of connective tissue as factors associated with the vaginal prolapse

The article presents data on the differential expression of genes of structural and regulatory proteins of connective tissue (COLIA1, fibronectin, elastin, TGF-β1, LOX) in women with pelvic organ prolapse and stigmas of undifferentiated connective tissue dysplasia (UCTD) compared to patients with prolapse but without UCTD stigmas.&#x0D; Research objectives: analysis of the prognostic significance of differential expression of structural and regulatory genes of connective tissue proteins COLIA1, fibronectin, elastin, TGF-β1, LOX as factors associated with the vaginal prolapse among Ukrainian women.&#x0D; Materials and methods. Vaginal tissue samples were taken from 18 patients at the menopausal age with vaginal prolapse III, IV degree, which required surgical correction during vaginal hysterectomy and/or plastic surgery of vaginal walls. The main group included 11 patients with clinical and anamnestic UCTD stigmas, the comparison group included 7 women without it. Gene expression analysis of structural and regulatory proteins of the extracellular matrix of connective tissue was performed using real-time quantitative polymerase chain reaction. The relative number of transcripts of the studied genes was normalized by the expression level of the GAPDH gene. The data were calculated using the 2–ΔΔCt method.&#x0D; Results. There was decrease in gene expression of the main structural proteins of the extracellular matrix of the connective tissue: COLIA1 (t=-1.7; p=0.044), fibronectin (t=1.66; p=0.047), elastin (t=-1.75, p=0,04), gene of the regulatory protein LOX (t=-1.8, p=0.035) and no statistically significant difference in the TGF-β1 gene in patients with pelvic organ prolapse and clinical and anamnestic UCTD stigmas.&#x0D; Conclusions. Statistically significant lower expression of the genes of the main structural proteins of the extracellular matrix of the connective tissue and the gene of the regulatory protein LOX in patients with pelvic organ prolapse and clinical and anamnestic UCTD stigmas is evidence of the importance of genetically determined pathological remodeling of the connective tissue in the etiology of genital prolapse.

Correlations of cytokines, regulating the synthesis of structural macromolecules of connective tissue, in undifferentiated connective tissue dysplasia in adolescent girls

Objective: to study the correlations of serum levels of cytokines, regulating the synthesis of structural macromolecules of connective tissue, in undifferentiated connective tissue dysplasia in adolescent girls with menstrual cycle disorders. Materials and methods: 176 adolescent girls aged 11 to 17 years with menstrual cycle disorders (MCD) and undifferentiated connective tissue dysplasia (UCTD) and 69 healthy girls of the same age were examined. Levels of cytokines IL-1β, IL-4, IL-6, IL-10, IL-17A, TNF-α, OPG, RANKL were studied in serum samples. Results: a significant increase in serum IL-6 and RANKL (p&lt;0,01), as well as a tendency (p&lt;0,1) to increase OPG production was found in adolescent girls with UCTD with MCD. In UCTD with NMC, correlations between the studied cytokines are much more common than in the control group (p=0,01). The most pronounced in adolescent girls with UCTD are positive correlations (moderate strength) between the concentrations of three cytokines IL-6, RANKL and OPG. Conclusions: The data obtained reflect the mechanisms of cytokine dysregulation of metabolism and remodeling of connective tissue and indicate the development of a weakly expressed systemic inflammatory process in UCTD with MCD in adolescent girls. The results of the study can be used to develop effective individualized schemes of therapeutic and preventive measures.