Syndrome Of Undifferentiated Connective Tissue Dysplasia Research Articles

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.

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.

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.

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.

Evaluation of the connective tissue dysplasia among adolescent’s population in Tyumen region

BACKGROUND: It is crucial to organize a full-scale epidemic investigation into the rise in connective tissue dysplasia (DCT) among populations in varying climatic zones. Connective tissue dysplasia encourages the emergence and progression of several pathological conditions that harm life quality and length.&#x0D; AIM: To identify the prevalence and structure of undifferentiated DCT syndrome among teenagers in different climate zones of the Tyumen region.&#x0D; METHODS: An observational study in the Tyumen region, the Khanty-Mansi Autonomous Okrug-Yugra, the Yamalo-Nenets Autonomous Okrug included 578 teenagers, males, and females main groups (12 and 15 years) from secondary schools and residential schools. The evaluation of phenotypic symptoms for undifferentiated connective tissue dysplasia syndrome was according to recommendations by the Russian medical therapists society for diagnostics, treatment, and rehabilitation of people with DCT. The undifferentiated DCT syndrome has relevance, structure, and severity.&#x0D; RESULTS: The amount of teenagers with undifferentiated DCT syndrome in the Tyumen region is 58.5%. The detection rate of undifferentiated DCT in the Tyumen region (south of the region) is 52.3%, in the Khanty-Mansi Autonomous Okrug-Yugra, it is 61.6%; in the Yamalo-Nenets Autonomous Okrug, 65.3%. Most of the registered phenotypic evidence of DCT included joint hypermobility, spinal scoliosis, hyperkyphosis of the thoracic spine, straight back syndrome, Varga index of 1.51.7, asthenic chest, bite anomalies, dysmorphism of the auricles, Gothic sky, loose and flabby skin, and myopia. A high average diagnostic coefficient, averaging 35.460.05 points, which surpasses the diagnostic threshold by more than two times and indicates possible complications of dysplastic changes. There are no differences in the severity of DCT manifestations according to several prognostically-significant criteria, depending on the climatic and geographical conditions within the studied area.&#x0D; CONCLUSION: It is very important to take into account the high prevalence and severity of DCT among teenagers in the Tyumen region when planning programs for treatment, prophylactic, and rehabilitation measures.

MORPHOFUNCTIONAL PECULIARITIES OF THE PLACENTA IN WOMEN WITH UNDIFFERENTIATED CONNECTIVE TISSUE DYSPLASIA SYNDROME.

The aim: The impact of undifferentiated connective tissue dysplasia on the formation of the placenta. Materials and methods: The morphostructure of 50 placentas with the undifferentiated connective tissue syndrome and 50 placentas of women with physiological pregnancy and absence of connective tissue pathology was studied. Results: The results of morphological studies have shown that the main pathogenetic link of placental dysfunction with highly resistant blood flow in the umbilical arteries in pregnant women with undifferentiated connective tissue dysplasia syndrome is a disorder of functional differentiation of the villous tree.In these cases the dominats were large and medium-sized villi with narrowed lumen in arterial, venular and capillary vessels and arterial spasm and venous plethora, as well as with numerous chaotically sclerosed villi, indicating stage I and II of placental. There is a large amount of fibrins in intervillous space which narrows it and leads to violation of microcirculation and placenta tissue hypoxia. Conclusions: The morphological basis of high flow resistance in the umbilical artery with the undifferentiated connective tissue dysplasia syndrome in pregnant women is a pathological immaturity of the placental villous tree. Morphological study of the architecture of the stem and intermediate placental villi revealed a violation of the structure of collagen fibers in the form of lack of crosslinks of bundles of collagen fibers.

Содержание минеральных компонентов в ротовой жидкости у детей с синдромом недифференцированной дисплазии соединительной ткани и их влияние на кариесрезистентность эмали зубов

Актуальность. Резистентность зубов к кариесу может быть связана с морфологическим строением эмали, обусловливающим изменение ее основных свойств (кислотоустойчивость, проницаемость, микротвердость). Среди множества характеристик структуры эмали, влияющих на уровень ее кариесрезистентности, выделяют качество минерализации. На минерализацию органического костного матрикса, коллагенообразование, функциональное состояние костных клеток, обмен витамина D, а также на рост кристалла гидроксиапатита непосредственно влияет магний. С физиологической точки зрения до 53 % магния концентрируется в костной ткани, дентине и эмали зубов. Магнию принадлежит существенная роль в формировании нормальной структуры соединительной ткани, и одним из этиологических факторов формирования дисплазии соединительной ткани является нарушение его гомеостаза. Цель исследования: определить содержание минеральных компонентов в ротовой жидкости у детей с синдромом недифференцированной дисплазии соединительной ткани и выявить их взаимосвязь с показателями кариесрезистентности эмали зубов. Материалы и методы. Осмотрено 50 детей в возрасте 10–12 лет. С помощью биохимических исследований определяли содержание концентрации кальция и магния в ротовой жидкости. Кариесрезистентность эмали зубов определяли с помощью теста эмалевой резистентности по В.Р. Окушко. Статистическая обработка данных проводилась с помощью пакетов Statistica 6.0 и StatPlus 5.9. Дети были разделены на две группы: группа I — основная (с синдромом недифференцированной дисплазии соединительной ткани, 30 человек) и группа II — контрольная (условно здоровые дети, с высокой кариесрезистентностью, 20 человек). Результаты. Средние результаты минеральных компонентов были гораздо ниже в основной группе, чем в контрольной: концентрация Са составила 0,88 и 1,23 ммоль/л соответственно, а Mg — 0,25 и 0,44 ммоль/л. Средние результаты теста эмалевой резистентности составили 5,83 и 4,15 балла в основной и контрольной группах соответственно. Показатели концентрации кальция в ротовой жидкости основной группы по сравнению с контрольной снижены на 28,5 %, а содержание магния меньше на 43,2 %. Данные теста эмалевой резистентности показали, что результаты в основной группе на 28,8 % ниже, чем в контрольной. Заключение. В основной группе концентрация Са и Mg в дефиците, и дети этой группы нуждаются в коррекции содержания указанных микроэлементов. Недостаточное количество содержания кальция и магния в организме ребенка приводит к нарушению строения эмали, что негативно отражается на кариес­устойчивости эмали зубов.

Epidemiology and clinical features of congenital malformations of uri-nary system organs in conditions of environmental distress

Objective. To establish the features of epidemiology and clinical manifestations of congenital malformations of the urinary system in the zone of environmental distress.&#x0D; Material and methods. We analyzed the overall prevalence of nephropathies and the proportion of congenital malformations of the urinary system in the dynamics from 2001 to 2019; 697 patients aged 118 years were examined with assessment of clinical and anamnestic, laboratory, instrumental and radiological data in accordance with diagnostic standards and protocols. We studied the features of epidemiology and clinical manifestations of congenital kidney and urinary tract diseases in an area with an unfavorable environmental situation.&#x0D; Results. Over the past 2 decades, the general prevalence of nephropathies in the children's population has increased with an elevation in the proportion of congenital malformations of the urinary system. These indicators are significantly higher in an area with a high level of anthropogenic environmental pollution than in an area with a relatively favorable environmental situation. Features of congenital pathology of the kidneys and urinary tract in patients living in an environmentally unfavorable zone were revealed: the presence of mass deficiency, reduced resistance, combination with undifferentiated connective tissue dysplasia syndrome, more frequent attachment of microbial-inflammatory process, decreased concentration and evacuation function of the kidneys.&#x0D; Conclusions. These features of epidemiology and clinical manifestations of congenital malformations of the urinary system in patients living in a region with a high level of environmental pollution should be taken into account when carrying out their medical support.

Influence of connective tissue differentiation on scar tissue formation in children

To study the immunohistochemical features of various scar tissues in children without connective tissue pathology and with undifferentiated connective tissue dysplasia syndrome. Tissue biopsy was performed in 217 children who underwent surgical treatment for various lesions, such as injuries, burns, as well as other procedures. There were 127 boys (58.5%) and 90 (41.5%) girls. The main group consisted of 98 (48.2%) children with scar tissue; group of UCTD syndrome - 65 (30.0%) children; control group - 43 (24.8%) patients without pathological scars. Histological examination of scar tissue and intact skin was carried out during primary or redo reconstructive surgery. Immunohistochemical study of antibodies against CD34, CD105, CD140b, PDGFs, COL types I, III and IV was performed. The study showed a quantitative characteristic of expression of COL type I in hypertrophic scar with predominance in the main group (77.5±5.4%; p<0.05), and decrease in COL type IV. Keloid form was associated with predominance of granulation tissue in all layers of dermis and high levels of all types of collagen. In the group of UCTD, COL type III prevailed in all pathological forms of the scar. We determined quantitative indicators of expression of vascularization factors (CD34; CD105) and fibroblastic activity (CD140b; PDGFs). Understanding the process of fibrinogenesis and analysis of stages of triggering mechanisms are essential for development of preventive algorithms. Individualized approach should be considered in the treatment. These studies are especially important in children with UCTD syndrome as high-risk group for pathological scarring. Thus, further research is required.

Ultrastructural characteristics of the mechanisms of varicose transformation of veins of different localization

To prove the role of UCTD syndrome in the development of varicose transformation of veins, by examining their wall biopsy specimens at the ultrastructural level. Vein wall fragments removed from 25 male patients were examined; their mean age was 19 years. All the patients were divided into 3 groups: 1) cases of left-sided varicocele (VC), 2) those of varicose veins in the lower extremities (VVLE), 3) control cases. Electron microscopy examination (EME) and morphometric and statistical analyses were performed. EME showed similar changes in the vein wall biopsy specimens obtained from both pediatric and adult patients with VC and VVLE. Analysis of the qualitative parameters of collagen fiber bundles revealed considerable differences in their thickness compared to those in the control group; the phenomenon of structural chaos; variability of their number in the bundles; uneven bundle thickness; abruptness of individual fibers due to their tortuous course; bundle disorganization areas and an expanded part of interfiber spaces. Morphometric analysis demonstrated a pronounced variability of numerical series when measuring their bundle thickness. The above changes indicate primary incompetence of the connective tissue framework of the varicose vein walls. The measurements of smooth muscle cells showed a decrease in their volume compared to that in the control group; there was an excessive proliferation of connective tissue between them. No substantial difference was found in the arithmetic mean of the measurements in different degrees of VC and VVLE and in the age groups for these diseases. The ultrastructural analysis and morphometric results confirm the key role of UCTD syndrome in the pathogenesis of VC and VVLE and make it possible to combine these diseases into one - systemic varicose veins.

PECULIARITIES OF THE COURSE AND TREATMENT OF GASTROESOPHAGEAL REFLUX DISEASE IN PATIENTS WITH SYNDROME OF UNDIFFERENTIATED CONNECTIVE TISSUE DYSPLASIA. (SYSTEMATIC LITERATURE REVIEW)

PECULIARITIES OF THE COURSE AND TREATMENT OF GASTROESOPHAGEAL REFLUX DISEASE IN PATIENTS WITH SYNDROME OF UNDIFFERENTIATED CONNECTIVE TISSUE DYSPLASIA. (SYSTEMATIC LITERATURE REVIEW)

MORPHOLOGICAL RESPONSE TO IMPLANTATION OF A POLYPROPYLENE MESH WITH A PRF MEMBRANE IN PATIENTS WITH POSTOPERATIVE VENTRAL HERNIA AND UNDIFFERENTIATED CONNECTIVE TISSUE DYSPLASIA

Background. Current herniology promotes the widespread usage of mesh implants in the primary treatment and, especially, in the for postoperative ventral hernias.&#x0D; Objective. The aim of the research was to study the morphological response of the tissues of muscular aponeurotic layer to implantation of a polypropylene mesh with using PRF membrane-enriched platelets in the patients with postoperative ventral hernia and concomitant undifferentiated dysplasia of connective tissues.&#x0D; Methods. The research involved 98 patients with postoperative ventral hernia, who underwent retro-muscular alogernioplasty by the Sublay technique of implantation of ‘light’ meshes, and a ‘light’ polypropylene mesh (PPM) in combination with a platelet-rich fibrin (PRF) membrane. The patients were divided into experimental groups according to the presence of undifferentiated connective tissue dysplasia syndrome.&#x0D; Results. Microscopic studies carried out after the implantation of a polypropylene mesh with a PRF membrane has proved that structural changes in connective tissues are like those of a polypropylene mesh, but they are less significant. There was a leukocyte infiltration near the mesh material, but its area was small. The enlargement and blood filling of the vessels of microcirculatory channel was a manifestation of the increased vascularization of this area.&#x0D; Conclusions. The usage of a polypropylene mesh in combination with a PRF membrane in the surgical treatment of postoperative ventral hernias reduces inflammatory changes in the tissues significantly and increases the activation of fibroblasts and signs of collagen fibers around the mesh material that is relevant especially for the patients with connective tissue pathology.

ВПЛИВ МІСЦЕВОЇ ТА ЗАГАЛЬНОЇ МЕТАБОЛІЧНОЇ ТЕРАПІЇ НА СТАН ЗОРОВОГО АНАЛІЗАТОРА В ДІТЕЙ ІЗ НАБУТОЮ МІОПІЄЮ, АСОЦІЙОВАНОЮ З СИНДРОМОМ НЕДИФЕРЕНЦІЙОВАНОЇ ДИСПЛАЗІЇ СПОЛУЧНОЇ ТКАНИНИ

Significant role in the formation of myopic refraction in children plays the syndrome of undifferentiated connective tissue dysplasia (SUCTD). On the background of metabolic abnormalities of the connective tissue occur morphological changes in the connective tissue of the sclera, which change its supporting function and contribute to the development and progression of myopia. This substantiates the expediency of the appointment of local and general metabolic therapy in the treatment of this category of children.The aim of the study – to evaluate the effect of local metabolic therapy on the state of the visual analyzer in children with acquired myopia associated with SU CTD.Materials and Methods. Оphthalmologic examination was performed on 65 children (130 eyes) from 7 to 12 years old with acquired myopia and phenotypic features of SU CTD . I group – 35 patients (70 eyes) received complex metabolic therapy for 2 months with the preparation "Cardonat", "Magnesium V6", and also eye drops "Tioretin A". The second group of observation included 15 children (30 eyes) with acquired myopia and SUDST who did not receive general and local therapy.Results and Discussion. After treatment in children of the group I, visual acuity is increased by an average of 0.15 c.u., obtained in 82.8 % of patients (58 eyes), reserves of absolute accommodation, reserve of relative accommodation by an average of 1.5 dpi and 2.5 dpi (p&lt;0.05). In group II, on the contrary, the reduction of uncompressed visual acuity was determined at 0.09 c.u. (p&lt;0.05), the indicators of accommodation function did not change significantly, remaining low. In the group I, only 17.1 % of patients (12 eyes) experienced an increase in clinical refraction by an average of 0.25–0.5 dpi, (p&gt;0.05). In the group II, this indicator increased by an average of 0.42 dpi (p&lt;0.05). The increase in the axial length of the eye was an average of 0.12 mm in the group I; 0.22 mm in the group II (p&lt;0.05).Conclusions. Metabolic therapy by using Cardonate, Magnesium V6 and eye drops "Thioretin A" in children with myopia associated with SU CTD increases the visual acuity without correction on average by 1.8 times, increases the absolute accommodation and reserves of relative accommodation on average 2.1 and 1.9 times respectively.

Anatomical optical, biomechanical and morphometric parameters of the eye in children with acquired myopia and syndrome of undifferentiated connective tissue dysplasia

Aim of the research – to make a comprehensive assessment of anatomical, optical, biomechanical and morphometric parameters of the eye in children with acquired myopia and syndrome of undifferentiated connective tissue dysplasia. Materials and methods. We examined patients of 2 groups: the I group – 44 children (88 eyes) with myopia of mild degree and phenotypic manifestations of connective tissue dysplasia, the II group – 40 patients (80 eyes) with myopia and without signs of connective tissue dysplasia. We measured the following parameters: corneal refractive power, corneal diameter and radius, thickness of the cornea, anterior chamber depth, lens thickness, sagittal length of the vitreous body, axial length of the eye, corneal hysteresis, peripapillary retinal nerve fiber layer thickness. Results. We revealed significant differences in the anatomical, optical and biomechanical parameters of the visual analyzer in children with myopia of mild degree on the background of the UCTD, in contrast to children with myopia and without connective tissue dysplasia, which consisted in corneal refractive power reduction to an average of 41.25 [40.62; 41.75] D, increase in the corneal radius to an average of 8.13 [7.97; 8.28] mm, the corneal diameter to an average of 12.5 [12.1; 12.7] mm, the anterior chamber depth to an average of 3.8 [3.4; 4.0] mm, the sagittal length of the vitreous body to an average of 17.6 [17.3; 18.0] mm, the axial length of eye to an average of 24.9 [24.4; 25.4] mm, decrease in corneal hysteresis to an average of 11.2 [10.6; 11.7] mm Hg. Peripapillary retinal nerve fiber layer thickness was reduced to an average of 87 [85; 93] μm. Conclusions. The obtained data can be useful in a comprehensive assessment of ophthalmic manifestations of undifferentiated connective tissue dysplasia syndrome, in myopic process development prediction and in individual treatment tactics determination.

Особенности клинических проявлений синдрома недифференцированной дисплазии соединительной ткани

Особенности клинических проявлений синдрома недифференцированной дисплазии соединительной ткани

ЭКСПЕРТНЫЙ СИТУАЦИОННЫЙ АНАЛИЗ СТОМАТОЛОГИЧЕСКОЙ ЗАБОЛЕВАЕМОСТИ НАСЕЛЕНИЯ ТЮМЕНСКОЙ ОБЛАСТИ - ОСНОВА ДЛЯ РАЗРАБОТКИ РЕГИОНАЛЬНОЙ ПРОГРАММЫ ПЕРВИЧНОЙ ПРОФИЛАКТИКИ

Subject matter Russian Federation national program “Health Development” realizing at the present time involves the following direction “Primary prevention of dental disorder among Russian Federation population”. To achieve desired targeted indicators there is need in regional program development for preventing disease among Tyumen region population based on scientifically grounded data on the regional characteristics basis. Objectives Development of research and information basis for creating a regional program of primary prevention of dental disorder of Tyumen region population. Methodology. In accordance with the dental status registration charts (WHO, 2013) the assessment of Tyumen region dental disorders was made by questionnaire survey method. It includes a range of factors influencing its occurring such as region sick rate according to Medical center for information and analysis; presence of phenotypic manifestations of undifferentiated connective tissue dysplasia, drinking water fluoride content; eating behavior factor, hygienic education. Statistical processing of data was made by using Vortex 10.7.3 software. Results. Teeth caries intensity of study group was high and at some cases it differed from the targeted indicators of Russian Federation healthcare development program. Caries intensity of 12-year-old children from Tyumen and Tyumen region was 2,51; from North region 4,41; from South region 2,4 (target indicator equals 2,3). Caries intensity of an adult person aged from 35 to 44 years old from central and north regions was about 15,52 (target indicator equals 14,4). The periodontium progression symptoms of 15-year-old adolescents were found at 3 sextants at average (targeted indicator is 5 sextants with healthy periodontium). There was also found high incidence of intercurrent diseases and undifferentiated connective tissue dysplasia syndrome, low drinking water fluoridation, low level of hygienic education. Conclusions The regional program plan of primary prevention of Tyumen population dental disorder was developed according to the case studies data.

Features of cells and extracellular matrix ratio in rat meniscus for motor activity formation during the first two weeks of postnatal life in norm and after intrafetal antigen injection.

Background. Diseases of the musculoskeletal system and connective tissue are included in the most common among school-age children. Undifferentiated connective tissue dysplasia syndrome is the morphologic basis for their progress. Previous researches showed that intrafetal antigen injection can be used for its modeling. Reactivity of the knee joint meniscus is not studied in this condition. Objective. To establish the features of the dynamics of cells and extracellular matrix ratio in the menisci of rat knee joint in norm and after intrafetal antigen injection from the 1st to the 14th day of life. Methods. 80 white laboratory rats were studied. 30 rats were intact. 30 rats underwent transuterine, transmembranous, intrafetal injection of liquid purified staphylococcal anatoxin (10-14 binding units in 1 ml, tenfold diluted, 0.05 ml) on the 18th day of prenatal period according to the method of M.A. Voloshyn. 20 rats after injection of saline solution served as control. Paraffin sections of left knee joint were made and stained with alcian blue (pH 2,6, MgCl2 critical concentration 0,2 M). In the sections the relative area of cells and matrix in the inner and outer zones of medial and lateral meniscus were measured. Zones were divided according to their cells types: fibroblast-like cells in the outer zone and chondrocyte-like cells in the inner one. Results were considered significant at p &lt; 0.05. The differences between the averages were evaluated using Student's t-test. Results. On the 1st day of experiment in both zones of the medial meniscus the relative area of cells increases as compared to the norm. During two weeks it decreases, except for the day 11th when it is significantly more in the outer zone. In the inner zone of the lateral meniscus cells relative area is less on the 11th day of the experiment, but more on the 1st and 14th. During the 1st week of postnatal life in the experiment the amount of extracellular matrix in the outer zone is significantly higher than in norm, and later, during the second week, it was not significantly different. Conclusion. It was established that the prenatal action of antigens leads to the disorder of the rate and terms of morphogenesis during the formation of motor activity, which is manifested by the changes in the ratio of cells and matrix as compared to the norm.

Семейные проявления недифференцированного синдрома дисплазии соединительной ткани и ассоциированная соматическая патология

Семейные проявления недифференцированного синдрома дисплазии соединительной ткани и ассоциированная соматическая патология

The role of inherited thrombophilia and undifferentiated connective tissue dysplasia syndrome in the pathogenesis of female infertility: A clinical and morphological study

Impaired endometrial receptivity is a major cause of reproductive losses in in vitro fertilization (IVF) cycles given a normal embryo. Its causes may be associated with many diseases, including inherited thrombophilia (IT) and undifferentiated connective tissue dysplasia syndrome (uCTDS). However, endometrial receptivity remains little studied. to investigate the morphological and immunohistochemical substrates of impaired endometrial receptivity in women with uCTDS, IT, and their concurrence. Antibodies against ER, PgR, LIF, VEGF, and PAI-1 were used to morphologically and immunohistochemically examine pipelle endometrial biopsy specimens taken from 141 women in the implantation window (on days 6-7 after ovulation). In accordance with their clinical diagnoses, the patients were divided into 4 groups: 1) 13 patients with uCTDS; 2) 100 with IT; 3) 19 with uCTDS and IT; 4) 9 healthy surrogate mothers (a control group). In the examined groups, a total of 145 (90.1%) out of all the IVF protocols were unsuccessful. In the remaining 16 (9.9%) patients without exception, miscarriage started at less than 10 weeks' gestation. In the implantation window, the endometrium was immature in 101 (83.1%) women and corresponded to late proliferation or early secretion phases; 102 (84.3%) women were also found to have no mature pinopodes, pointing to the fact that the endometrial receptivity was very low. Immunohistochemical examination revealed the lower expression of the receptivity marker LIF in the endometrial surface epithelium and its higher expression in the stroma in the study groups (p < 0.05 for the uCTDS and uCTDS+IT groups) and the higher expression of PAI-1 and VEGF in the epithelium, stroma, and endothelium in the study groups than in the control group (p < 0.05), suggesting the intensity of neoangiogenetic processes and impaired fibrinolysis in these patients. uCTDS and IT are risk factors of impaired endometrial receptivity in the pathogenesis of infertility. The manifestations of impaired endometrial receptivity in this case are a decrease in mature pinopodes in the surface epithelium; focal stromal sclerosis; and redistribution of the receptivity marker LIF from the surface epithelium to the stroma, which may be used for diagnosis, prediction, and the development of targeted therapy.

EHMTI-0330. The prevalence of undifferentiated connective tissue dysplasia syndrome in children with migraine

Background The efficiency of migraine therapy depends on it’s comorbidities. One of these co-morbidities is represented by undifferentiated connective tissue dysplasia (UCTD). In general population the joint hypermobility syndrome (JHS) may be present in 5-30% (Murray K.J., 2001) and minor congenital heart defects (MCHDs) in 5-35% (Freed L.A., 1999). In adults approximately 75% of patients with JHM suffer migraine (Bendik E.M., 2011).