Undifferentiated Connective Tissue Dysplasia Research Articles

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.
 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.
 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.
 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.
 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<0,01), as well as a tendency (p<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.

Immunohistochemical basing of the pathogenesis equality of varicose vein transformation in varicocele and varicose veins of the lower extremities

Background. Varicocele as well as varicose veins of the lower extremities are quite widespread. To date, the mechanisms of variceal transformation remain not completely clear.Aim. To study the immunohistochemical profile in order to substantiate the common pathogenesis of varicose veins transformation in varicocele and varicose veins of the lower limbs; to confirm the key role of undifferentiated connective tissue dysplasia syndrome in the development of these diseases.Materials and methods. Vein wall fragments from 24 male patients aged 6–35 years old divided into the corresponding groups: group 1–12 patients with varicocele, group 2–12 patients with varicose veins of the lower limbs. Control group – 5 practically healthy men (age 16–32 years). Immunohistochemical study was performed with monoclonal antibodies to collagen types III, IV, α-SMA, fibronectin, laminin, MMP-2 and MMP-9, TGF-β1.Results and discussion. Histological and immunohistochemical studies of vein wall biopsy specimens in both groups revealed similar morphological changes, different from the control group. When assessing the expression level of α-SMA in both study groups, there was marked expression in the bundles of hypertrophic smooth muscle cells (in the zone of wall thickening where fibrosis was minimal) and weak expression in the bundles of smooth muscle cells “enmeshed” in connective tissue sleeves. Collagen type III showed weak expression in the subintimal zone and between the bundles of superficially located smooth muscle cells in both study groups. Expression of type IV collagen was detected in the areas of wall thickening and hypertrophy of smooth muscle cells. In both groups there was a pronounced expression of fibronectin in the most altered sections of the vein walls, especially in the middle layer, around the bundles of smooth muscle cells. There was marked expression of MMP-2 in all layers of the wall, and overexpression of MMP-9 in the areas of wall thinning (in the subintimal zone and muscular layer). TGF-β1 overexpression was also detected in vein biopsy specimens from both groups, predominantly in areas of thinning and pronounced intermuscular fibrosis.Conclusion. Taking into account the similarity of immunohistochemical manifestations in the vein walls in varicocele and varicose veins of the lower limbs we can speak about the common morphogenetic mechanisms of their remodeling. Thus, we consider it possible to combine various forms of varicosity into a single disease – varicose vein disease.

Особенности диагностики и лечения глаукомы у лиц молодого возраста

Purpose. To reveal the features of diagnosis and treatment of glaucoma in a group of young patients. Material and methods. Complex ophthalmological examination of 10 young patients diagnosed with glaucoma. Among them, three are on conservative treatment, the rest underwent non-penetrating deep sclerectomy with Xenoplast drainage implantation. Results. Patients who have undergone surgical treatment, especially in the early stages of glaucoma, are able to stabilize the pathological process, while maintaining visual functions at a high level. In an unoperated patient with myopia and nNDST, on maximum antihypertensive therapy, a negative trend was noted according to OCT. In the only case, a patient with emmetropia has stable indicators for several years on drug treatment (prostaglandin analogues). Conclusion. Timely diagnosis and implementation of nonpenetrating deep sclerectomy in the early stages are the main links in the successful treatment of young glaucoma. Patients with axial myopia and glaucoma should be evaluated cardiologically and orthopedically for signs of connective tissue damage. Undifferentiated connective tissue dysplasia may be the pathophysiological basis of the glaucoma process. Key words: glaucoma of a young age, inherited disorders of connective tissue, juvenile glaucoma

СРАВНИТЕЛЬНАЯ ОЦЕНКА ТЕЧЕНИЯ И ИСХОДОВ БЕРЕМЕННОСТИ У ПАЦИЕНТОК С НЕДИФФЕРЕНЦИРОВАННОЙ ДИCПЛАЗИЕЙ СОЕДИНИТЕЛЬНОЙ ТКАНИ ПРИ ИСПОЛЬЗОВАНИИ ОБЩЕПРИНЯТОЙ И ПЕРСОНАЛИЗИРОВАННОЙ ПРЕГРАВИДАРНОЙ ПОДГОТОВКИ

Background. Preparation for pregnancy in patients with extragenital pathology is an important problem of current obstetrics. Purpose. To perform comparative assessment of the course and outcomes of pregnancy in patients with undifferentiated connective tissue dysplasia (UCTD) after using conventional and personalized preconception preparation. Material and methods. A total of 262 patients were examined, including 159 with UCTD. Group I (the main group) included 125 patients with minor heart abnormalities and at least 4 signs of undifferentiated connective tissue dysplasia, who underwent the generally accepted preconception preparation: folic acid – 400 μg/day, potassium iodide – 200 μg/day orally for 3 months. Group II (the intervention group) consisted of 34 patients who received personalized preconception preparation: folic acid – 400 μg/day orally, potassium iodide – 200 μg/day orally for 3 months, Mg2+ preparations at a dose of 300 mg/day, glycine –400 mg/day, multivitamin complex containing vitamin B1 (10 mg/day), vitamin B2 (10 mg/day), vitamin B6 (10 mg/day), vitamin E (400 mg/day) for 3 months. Group III (the control group) included 103 patients without signs of UCTD who received a standard amount of preconception preparation. The evaluation of the effectiveness of personalized preconception preparation was carried out according to the criteria of evidence-based medicine. Relative risk (RR), relative risk reduction (RRR), absolute risk reduction (ARR), the number of patients who needed treatment to prevent 1 adverse outcome (NNT), the odds ratio (OR) for a particular outcome were calculated. Results of the study. In the intervention group, statistically significant results were obtained in terms of reducing the risk of developing a threatened miscarriage and preterm birth in patients with undifferentiated connective tissue dysplasia, as well as reducing the absolute risk of developing isthmic-cervical isufficiency. Conclusions. Identification of signs of UCTD at the preconception stage and the use of personalized preconception preparation in this group of patients contributes to the improvement of perinatal outcomes.

Характер врожденных аномалий органов мочевой системы у детей с недифференцированной дисплазией соединительной ткани

Характер врожденных аномалий органов мочевой системы у детей с недифференцированной дисплазией соединительной ткани

Protocols on correction of signs of undifferentiated connective tissue dysplasia using hardware and injection techniques in cosmetic patients

Undifferentiated connective tissue dysplasia (UCTD) is a genetically determined condition with a progressive course characterized by defects in the fibrous structures and the basic connective tissue substance, leading to impaired formation of organs and systems, which determines the features of the associated pathology, as well as the pharmacokinetics and pharmacodynamics of drugs. In dermatological and cosmetological practice, the issue of UCTD is very topical, as individual external presentations of the connective tissue dysmorphogenesis among young people can reach 85.4%. In recent decades, a real revolution has taken place in aesthetic medicine, which is associated with the emergence of new injectable products, development of hardware, cellular and thread techniques. Every year mew methods of treatment emerge and the existing ones are improved. Statistics of the past years show that minimally invasive non-surgical interventions are becoming more and more popular in all countries, their number significantly exceeds the number of surgical operations. To date, there are 2 groups of methods aimed at collagen stimulation: hardware techniques and injection methods. The effectiveness of the use of polylactic acid drugs as the first-line drugs for the correction of UCTD in order to prevent premature ageing was evaluated in the presented clinical cases. Patients with a cosmetology profile were treated according to the complex protocols that included amino acid replacement therapy, IV therapy, contour correction with drugs containing polylactic acid and hardware techniques (microneedle RF lifting with insulated and non-insulated needles, ultrasonic SMAS lifting, ablative laser techniques, Ipl-therapy). As a result, an algorithm for managing a patient with UCTD was developed in the cosmetology practice. The provided clinical cases show that the detection of signs of UCTD can significantly improve the patient’s quality of life and prevent premature aging.

Screening of thrombogenic risk factors in children in the Altai krai

Introduction. One of the urgent problems of modern pediatrics is the risk of developing vascular complications in children, among which thrombosis is not uncommon. For early diagnosis and thromboprophylaxis of strokes and other vascular complications, the identification of thrombogenic risk factors is indicated.
 The purpose of the study. Based on the screening, to establish predictors of thrombogenic risk in children living in urban and rural areas of the Altai Territory for the timely prevention of vascular complications.
 Materials and methods. The results of a screening study of two hundred seventeen aged 12–17 years children living in the city of Barnaul, Zarinsk and Klyuchevsk districts of the Altai Territory, were analyzed. Screening examination of children without signs of thrombosis and bleeding was carried out at an outpatient appointment with a pediatrician in random sampling. The questionnaire included questions to clarify the family thrombotic history, personal thrombotic history, background somatic diseases. Clinical examination was performed for all interviewed patients.
 Results. According to the results of the study, it was revealed that in 65 (30%) of the 217 children surveyed, the closest relatives had thrombogenic risk factors, such as heart attacks, strokes, hypertension, coronary heart disease (CHD). After analyzing the personal thrombotic history, it was found that in the general group of patients, myocardial infarction was observed in 2 (0.9%) children. Strokes were noted in 5 (2.3%) respondents, and thrombosis and TIA in 2 (0.9%) subjects. When analyzing the results, it was found that a significant proportion of children had the following conditions, such as vegetative-vascular dystonia (VVD) of the hypertensive type, the presence of signs of undifferentiated connective tissue dysplasia (UCTD), smoking, obesity.
 Conclusion. According to screening data in children, the main predisposing factors in the development of thrombosis, strokes and heart attacks are a burdened family, thrombotic history, the presence of some somatic diseases. The combination of these factors justifies the need for additional examination for the prevention of vascular thrombosis.

BIOCHEMICAL AND IMMUNOHISTOCHEMICAL STUDIES OF MATRIX METALLOPROTEINASES IN PERIODONTAL DISEASE PATHOGENESIS AFFECTING CHILDREN WITH CONNECTIVE TISSUE DYSPLASIA SYNDROME

The interest taken in studying pathomorphological and pathophysiological mechanisms behind periodontal inflammation affecting children with undifferentiated connective tissue dysplasia (UCTD) can be accounted for by the disease high prevalence, risk of its progression, as well as morphological and functional immaturity of tissues and low effectiveness of the available treatment options. The study into the matrix metalloproteinases (MMPs) expression in the gum and oral fluid biopsy material in children with UCTD is of both scientific and practical value in terms of diagnostic identification, disease course assessment, and the design of individualized treatment modes for periodontal diseases. In order to determine the specific features of MMP-2, MMP-8, MMP-9 expression, our study involved 61 children with periodontal diseases and various degrees of UCTD, as well as 27 healthy children with intact periodontium. The study implied analyzing the participants’ immune-histochemical studies of gum biopsy material and oral fluid enzyme immunoassay results. The enzyme immunoassay of MMP concentration in the oral fluid revealed that children with a prominent degree of UCTD, had their MMP-2, MMP-8, MMP-9 expression (medians 5.49 ng/ml, 478.4 ng/ml, 921.6 ng/ml, respectively) exceeding significantly the concentration of these enzymes in children whose degree of UCTD could be described as mild (medians 2.76 ng/ml, 317.1 ng/ml, 584.3 ng/ml, respectively). An analysis of the MMP expression in the gum biopsy material showed that MMP-2 is not a reliable indicator to offer data required to assess the clinical status of periodontal tissues, since it is detected both in healthy children with intact periodontium and in children with periodontal disease and the UCTD syndrome. MMP-8 and MMP-9 can provide an objective description of the active phase of periodontium inflammation, which means these enzymes should be considered as reliable biomarkers of inflammation activity at the disease manifestation stage. Biochemical and immunohistochemical studies of MMP-2, MMP-8, MMP-9 the expression in oral fluid and gum biopsy material in children with UCTD syndrome should be used to identify the periodontium structural and functional status, the nature of inflammation, to detect potential risk groups vulnerable to the development of periodontal diseases, as well as to evaluate the effectiveness of various schemes for comprehensive treatment of periodontal issues.

Role of monocytes in the development of psychovegetative disorders in young people with undifferentiated connective tissue dysplasia

Background:The immune system plays an important role in the development of neuropathology. Dysfunction of monocytes/macrophages can contribute to environmental health and the development of neuroinflammatory and neurodegenerative diseases. Two subpopulations of monocytes are distinguished, namely, anti-inflammatory and activated pro-inflammatory monocytes, producing cytokines interleukin (IL)-1, IL-6, IL-2, IL-8, and tumor necrosis factor (TNF)-α, which are involved in immune inflammation in mental diseases. Violations of cellular, phagocytic, and/or humoral immunity are often found in patients with undifferentiated connective tissue dysplasia (UCTD). Monocytes are assumed to be involved in the development of psychovegetative disorders in patients and connective tissue insufficiency. Aim:To study the relationship between the number of monocytes and pro-inflammatory cytokines (IL-1, IL-6, and TNF-α) in the peripheral blood with possible non-psychotic diseases and autonomic dysfunction syndrome in UCTD in young people. Materials and methods:We examined 95 people aged 18–22 years. Neuropsychological examination, general clinical blood tests, pro-inflammatory cytokines (IL-1, IL-6, TNF-α), markers of neurodegeneration (neuron-specific enolase) and cerebral ischemia (antibodies to NR2) were sent. Results:An increase in the absolute monocyte count in the peripheral blood is accompanied by a lesser severity of psychovegetative, ischemic, and neurodegenerative cases. An inverse correlation was found between the level of monocytes in the peripheral blood and the number of UCTD indicators, a direct correlation between UCTD and autonomic dysfunction syndrome (ADS), asthenic condition, personal anxiety, depression, neurosis, Internet addiction, and headache research index for everyday life. Severe UCTD leads to a change in the proportion of monocytes in the use of the pro-inflammatory subpopulation, which is probably one of the reasons for the numerous non-psychotic diseases and autonomic nervous system diseases in these patients. Conclusion:An increase in the pro-inflammatory monocyte count in severe UCTD plays an important role in the development of psychovegetative disorders. The correction of the dysplastic process can become an important role in the prevention and detection of various neurological and non-psychotic diseases, such as ADS and anxiety–depressive syndrome in young people.

Polymorphic Variants of the <i>ADAMTS5</i> Gene as New Markers of Joint Hypermobility

Joint hypermobility (JH) is a common phenotype that can be both an independent clinical syndrome and a manifestation of connective tissue diseases. The pathogenesis of JH is not well understood. JH may be a predisposing factor in the development of musculoskeletal system pathology, so it is necessary to identify its molecular markers to prevent the formation of associated disorders.Objective: to search for associations of five polymorphic variants of the ADAMTS5 gene with JH and connective tissue dysplasia (CTD).Material and methods. A one-stage screening study of young people (n=181, mean age 21.86±0.22 years) was performed. We searched for associations of polymorphic variants of the rs226794, rs9978597, rs2830585, rs229077, rs229069 loci of the ADAMTS5 gene with JH, undifferentiated CTD, and their combinations. JH was determined by the Beighton scale, CTD – by a quantitative method. The study of polymorphic variants was carried out using real-time polymerase chain reaction. To compare qualitative features, Fisher's exact test with Yates’s correction for 2×2 contingency tables was used. The strength of associations was assessed using the odds ratio (OR), differences were considered significant at p<0.05, the correction for multiple comparisons was performed using the Benjamini–Hochberg method (false discovery rate, FDR).Results and discussion. JH was detected in 128 (70.7%), signs of CTD – in 129 (71.3%) patients, including 115 (63.5%) patients in combination with JH. We found associations of the T allele and the TT genotype of the rs9978597 locus with the presence of JH (OR 5.00 and 7.81, respectively), CTD (OR 3.13 and 3.96), or their combinations (OR 6.33 and 10.23). An association of the GG genotype of the rs226794 locus with isolated JH was also found (OR 3.87).Conclusion. The GG genotype of the rs226794 locus of the ADAMTS5 gene is a marker of isolated JH, the T allele of the rs9978597 locus is a marker of both isolated JH and CTD, and their combination.

CESAREAN SECTION IN CASES OF STRESS-COMPROMISED PREGNANCY IN WOMEN WITH UNDIFFERENTIATED CONNECTIVE TISSUE DYSPLASIA.

The aim: Assessment of abdominal delivery by cesarean section in preterm pregnancies in women with undifferentiated connective tissue dysplasia. Materials and methods: Analyzed were 3,371 cases of cesarean section deliveries in preterm pregnancies complicated by undifferentiated connective tissue dysplasia (UCTD). Based on a scoring assessment of external and visceral UCTD markers, three groups were identified: Group 1 included 466 patients with no signs of UCTD, Group 2 consisted of 798 patients with mild UCTD, and Group 3 comprised 2,107 patients with moderate to severe UCTD. The severity of connective tissue dysplasia manifestations was assessed based on external and internal signs of connective tissue dysplasia, as well as gynecological and obstetric history, indications for abdominal delivery in preterm pregnancies, and maternal and perinatal outcomes of the deliveries. Results: It has been established that in 71.4% of patients with stress-compromised pregnancies resulting in preterm birth and delivered by cesarean section, the most common indications were: inability of the uterine scar in 23.8%, breech presentation of the fetus in 19.1%, and detachment of the normally placed placenta in 4.9%. An unfavorable factor was moderate to severe connective tissue dysplasia, which led to a 5-fold increase in the likelihood of requiring a cesarean section. In addition, severe hypoxia in newborns was significantly more frequently observed in the first minutes of life in cases of moderate and severe UCTD. Conclusions: The conducted studies have shown that cesarean sections in cases of stress-compromised pregnancies resulting in preterm birth are performed significantly more often in cases of moderate to severe undifferentiated connective tissue dysplasia (UCTD). Moderate and severe UCTD have a substantial impact on obstetric and perinatal outcomes of deliveries, both at present and in the future.

Клинические и фенотипические признаки недифференцированной дисплазии соединительной ткани при интрамуральной миоме матки как маркеры прогнозирования инфертильности

Objective. To examine associations between clinical and phenotypic signs of undifferentiated connective tissue dysplasia (UCTD) and uterine leiomyoma, as well as fertility and infertility in case of intramural uterine leiomyoma. Patients and methods. In this retrospective cross-sectional study, 400 patients were included and divided into two groups. The study group consisted of 370 patients with intramural leiomyoma, including 240 infertile and 130 fertile patients (70 women in the first trimester of pregnancy and 60 women delivered less than 12 months ago, in whom leiomyoma was diagnosed before and/or during pregnancy). The control group consisted of 30 patients without leiomyoma and infertility who referred for a preventive examination. Results. The frequency of clinical and phenotypic signs of UCTD was significantly higher (2.5-fold) in patients with leiomyoma compared to healthy controls. A number of UCTD signs were significantly associated with infertility in intramural leiomyoma (De Quervain syndrome, mitral valve prolapse, hematomas due to minor trauma, hyperpigmentation, history of uterine appendage torsion, scoliosis, varicose veins, iron-deficiency anemia). Based on the findings, significant diagnostic coefficients and informativeness coefficients for several UCTD signs, expressed in rounded scores, were obtained using mathematical calculations, which allows their use as prognostic criteria for fertility/infertility in intramural leiomyoma. The identified clinical symptoms are apparently both systemic (manifested as UCTD signs) and localized (leiomyoma formation and infertility). Conclusion. A high frequency of the combination of clinical and phenotypic signs of UCTD with infertility in intramural uterine leiomyoma was established. The present study allowed us to determine significant signs of UCTD, the presence of which is associated with a high risk of infertility. The results of the study and the risk score can be used to assess potential fertility in intramural leiomyoma in patients of reproductive age and to choose treatment tactics. Key words: uterine leiomyoma, undifferentiated connective tissue dysplasia, infertility, infertility risk prediction

Особенности желудочковой экстрасистолии на фоне коморбидной патологии у юных спортсменов

Aim: to assess the role of autonomic disorders and undifferentiated connective tissue dysplasia (UCTD) of the heart in children with ventricular extrasystoles (VE) engaged in sports. Patients and Methods: the study included 52 athlete boys with newly diagnosed cardiac arrhythmia in the form of ventricular extrasystoles. The study group (n=34) consisted of children with moderate VE severity co-existing with asympaticotonic type of autonomic dysfunction syndrome (ADS) amid undifferentiated connective tissue dysplasia mostly affecting the heart (UCTDH). The study group was split into two subgroups: subgroup 1 (n=11) – children with monotopic VE persisting at load and subgroup 2 (n=23) – children with occasionally appearing VE which reduced in the vertical position and/or at load. The control group (n=18) consisted of children with moderate VE amid UCTDH without ADS manifestations. A comprehensive clinical and laboratory assessment was performed in all patients. Results: on Holter monitoring (HM), in patients of the study group, subgroup 1, a sinus rhythm was recorded with the presence of 9,000- 15,000 VE per day (single or paired). The power spectral analysis of heart rate variability (HRV) in the subgroup 1 children demonstrated that in most cases (10 (90.9%)) there were low levels of the total power (TP) (р<0.05) and high values of the high-frequency component (HF) (p<0.05) as compared to those in the control group children. Also, a significant decrease in creatine phosphokinase-MB activity in the blood serum was found in children of the study group, subgroup 1, as compared to the reference values (р<0.05). The VE development in the study group, subgroup1, children was caused by the combined exposure to sport loads and the autonomic control of cardiovascular function amid UCTDH. In the study group, subgroup 2, children the laboratory testing did not demonstrate any statistically significant changes in creatine phosphokinase-MB activity in the blood serum as compared to the reference values (р>0.05). On HM, in most of the subgroup 2 children, a sinus rhythm was recorded with the presence of 6,000-9,000 VE per day. The changes in HRV parameters and their spectrogram in 19 (82.6%) cases were common for asympaticotonic type. As compared to the values in the control group children, TP was slightly lower (р>0.05) along with a high HF level (р>0.05). A half of the control group children had a moderate increase in creatine phosphokinase-MB activity in the blood serum (р<0.05), while in other cases its values did not differ considerably from the normal range. On HM, in most cases a normal sinus rhythm with usually single EV, 300-5,000 per day, was recorded. The main measurements of the power spectral analysis of HRV and spectrogram indicators suggested that children of this group had sufficient body energy supply. The presence of VE in the control group children was associated with the impact of sport loads on the heart with dysplasia. Conclusion: the authors have distinguished the clinical variants of heart rhythm disorders in young athletes with different levels of body energy supply, VE patterns, etc. In young athletes, ventricular extrasystoles are characterized by a persisting occurrence in cases with asympaticotonic type of autonomic disorders amid UCTDH. They are associated with a decrease in energy supply of the body, in particular, the myocardial muscle. Occasionally occurring VE were recorded in athletes without significant disturbances in energy supply. KEYWORDS: ventricular extrasystoles, autonomic dysfunction syndrome, undifferentiated connective tissue dysplasia of the heart, energy supply, athletes. FOR CITATION: Cherkasov N.S., Doronina T.N., Prakhov A.V., Semenova I.A. Characteristics of ventricular extrasystoles co-occurring with comorbidities in young athletes. Russian Journal of Woman and Child Health. 2023;6(1):45–49 (in Russ.). DOI: 10.32364/2618-8430-2023-6-1-45-49.

Integrative Art-therapeutic Correction of Psychosomatic Disorders in Children with Undifferentiated Connective Tissue Dysplasia

The syndrome of undifferentiated connective tissue dysplasia ( U CTD) is a genetically determined condition, the detailed clinical picture of which is formed during the first five years of life. The development of vegetative-vascular dystonia in UCTD is associated with a changed collagen structure, which leads to the appearance of numerous clinical manifestations that affect the psycho-emotional status of the child, especially if the leading syndrome is anxiety. The purpose of our study was to e

Determinants for Predicting Polyorganic Functional Changes of the Musculoskeletal System in Children with Various Degrees of Joints Hypermobility

Aim: The aim of the work was to study the presence of determinants for predicting the local structures involvement of the musculoskeletal system against the background of joint hypermobility in children. Materials and Methods: The study involved 446 children aged from four to six years. The study plan includes: copying the data of a comprehensive medical examination; determination of joint hypermobility by goniometry and evaluation according to the criteria of presence and degree of joint hypermobility by the method of C. Carter, J. Wilkinson – in the modification of P. Beighton; application of clinical and physiological methods (functional testing, genealogical analysis) and methods of mathematical data processing. Results: The significance hierarchy of morpho-functional features in relation to the further development of the pathological process in children with one of the main manifestations of undifferentiated connective tissue dysplasia – joint hypermobility – is predicted. Determinants of predicting local involvement of musculoskeletal structures (mobility of the spine in the sagittal plane, muscles endurance of the dorsal torso surface) were determined. Conclusions: Against the background of the study of a wide range of clinical features of several generations’ orthopaedic lesions, the fact of highly-progressing risk of scoliotic disease and flat foot was established.

СОСТАВ И СОДЕРЖАНИЕ СВОБОДНЫХ И СВЯЗАННЫХ АМИНОКИСЛОТ В МОЧЕ У ДЕТЕЙ С СИНДРОМОМ НЕДИФФЕРЕНЦИРОВАННОЙ ДИСПЛАЗИИ СОЕДИНИТЕЛЬНОЙ ТКАНИ, ПРОЖИВАЮЩИХ В РЕСПУБЛИКЕ САХА (ЯКУТИЯ)

The article presents the results of a study using gas chromatography-mass spectrometry of the amino acid composition of urine in children with the syndrome of undifferentiated connective tissue dysplasia, living in permafrost conditions of the Republic of Sakha (Yakutia). Connective tissue dysplasia (CTD) is associated with complex metabolic changes, including amino acid metabolism. However, currently available data are conflicting. Therefore, the purpose of this study was to study the level of amino acids in the urine of children with undifferentiated CTD. Materials and methods. The present study included 48 children who were in the control group and 57 children with undifferentiated CTD included in the experimental group. The level of amino acids in the urine was assessed using gas chromatography with an Agilent GC 7820/MSD 5975 mass spectrometric detector. Statistical analysis was performed using the SPSS version 22 software. Results and discussions. The analysis of amino acids in urine makes it possible to assess their qualitative and quantitative composition, to obtain information about the existing imbalance, which may indicate nutritional and metabolic disorders that underlie a large number of diseases, including disorders associated with connective tissue. It is concluded that the increased excretion of various amino acids in the urine in children with undifferentiated CTD may be due to a violation of protein synthesis as a result of the absence (or lack) of any amino acids in the diet.

НЕДИФФЕРЕНЦИРОВАННАЯ ДИСПЛАЗИЯ СОЕДИНИТЕЛЬНОЙ ТКАНИ КАК ФАКТОР РИСКА ГЕСТАЦИОННЫХ ОСЛОЖНЕНИЙ

Objective. To establish the value of undifferentiated connective tissue dysplasia (UCTD) as a risk factor for complications of pregnancy and labor. Material and methods: A prospective, cohort, randomized, controlled trial was conducted. Taking into account inclusion and exclusion criteria, the study included 228 women aged 18-42 years. 2 groups have been formed. The main group was 125 patients. The comparison group was 103 pregnant women with no signs of undifferentiated connective tissue dysplasia. The features of the menstrual cycle, the course of pregnancy and childbirth and perinatal outcomes were studied. Results. The role of UCTD is demonstrated as a risk factor in the development of pregnancy and childbirth complications: the presence of UCTD increases the likelihood of the threat of termination of pregnancy in the first trimester by 2.7 times, in the second and third trimesters by 3.4 and 3.9 times, respectively. Among pregnant women with manifestations of UCTD, the probability of developing placental disorders was 227% (CI 172.6-281.4) higher than in the control group. Conclusion. Optimization of the management of the preconception period, pregnancy and childbirth in patients with UCTD will improve perinatal outcomes.

Comprehensive evaluation of the premature birth in women with undifferentiated connective tissue dysplasia

Comprehensive evaluation of the premature birth in women with undifferentiated connective tissue dysplasia