Signs Of Connective Tissue Dysplasia Research Articles

ОБҐРУНТУВАННЯ ДИФЕРЕНЦІЙОВАНОГО ПІДХОДУ НА ЗАНЯТТЯХ ІЗ ФІЗИЧНОГО ВИХОВАННЯ СТУДЕНТІВ ІЗ ГІПЕРМОБІЛЬНІСТЮ СУГЛОБІВ

Introduction. Experts point to a decrease in the level of health of youth with manifestations of connective tissue dysplasia. One of the most common signs of connective tissue dysplasia is joint hypermobility (JH). In the JH understands the excess of range of motion in one or several joints compared with the average norm. JH is accompanied by disharmonious changes in physical development, a decrease in functional indicators, muscle hypotension occurs, leading to frequent injuries. Therefore, it is necessary to organize the educational process in physical education, in such a way as to provide the necessary healing and educational effect in physical education classes. The research hypothesis is that the application of a differentiated approach in physical education classes will help to increase the effectiveness of the educational process and improve the physical condition of female students with different levels of severity of joint hypermobility. The purpose of the study: substantiate a differentiated approach in the physical education of female students with hypermobility of joints to improve their physical condition. Materials and methods: analysis of literary sources, questionnaires, anthropometry, methods for studying the functional state of the body and assessing physical health, performance assessment, pedagogical testing, pedagogical experiment, methods of mathematical statistics. The research involved 155 students aged 17-20 years, who studied at the State Institution "Dnepropetrovsk Medical Academy of the Ministry of Health of Ukraine." Results: The results of the study indicate a positive effect of a differentiated approach in physical education classes on the physical condition of female students with hypermobility of the joints. This gives grounds to recommend it for practical use in the process of physical education of university students. Conclusions. 1. The use of a differentiated approach in physical education classes in accordance with the functional capabilities of students with different levels of joint hypermobility contributed to improved results in cardiovascular and respiratory systems, dynamometry of the right hand, back muscle strength (p <0.05). 2. The number of female students who have a low level of somatic health has decreased and an increase in performance and adaptive capacity has been established, and physical fitness has been promoted. Key words: physical condition, female students, hypermobility of joints, physical education.

The concept of external abdominal hernias as forms of connective tissue dysplasia the search for effective methods of surgical treatment

The article reviews the literature data on the problem of connective tissue dysplasia and attempts to clarify it's role in the mechanisms of herniogenesis in the anterior abdominal wall. Hernia carriers are presented as patients with systemic pathology of the connective tissue, which made it possible to reinterpret the high frequency of occurrence among them comorbid hernial defects of chronic multiorgan and polysystem disorders and present a range of possible complications during the early and late postoperative period. The questions about the need for a more accurate diagnosis of external and visceral signs of connective tissue dysplasia in hernias according to accepted diagnostic schemes are considered. The possibilities and results of histological and laboratory methods of verifying the level of severity of undifferentiated connective tissue pathology were studied. Generalized experience of methods of surgical treatment of external abdominal hernia, considering the presence of connective tissue among dysplasia patients.

MORPHOLOGICAL MARKERS OF THE POST EXERCISE STRUCTURAL AND FUNCTIONAL DISORDERS OF THE LOCOMOTOR APPARATUS

Aim. The article deals with establishing the character of the correlations between the somatometrical features and morphological signs of connective tissue dysplasia in persons with frequent post exercise structural and functional disorders of the locomotor apparatus. This is required for creating treatment and disease preventive measures and recommendations to choose an adequate physical activity. Materials and methods. A comprehensive medical and anthropological examination of 48 people aged from 18 to 47 years (mean age 36.38 ± 6.02 years) with frequent post exercise structural and functional disorders of the locomotor apparatus was carried out. A questionnaire was developed to assess the status of their connective tissue. The control group consisted of 36 apparently healthy people aged 18.85 ± 0.56 years. Statistical processing of the data obtained was performed using Microsoft Excel 2010. Results. All patients with frequent post exercise structural and functional disorders of the locomotor apparatus had connective tissue dysplasia of moderate and severe degree, the total score of which was 49.44 ± 13.1. The analysis of the frequency of connective tissue dysplasia morphological signs occurrence depending on their diagnostic significance, made it possible to establish the pathognomonic predictors of high susceptibility to frequent disorders of the locomotor apparatus. Conclusion. Early diagnostics of frequent disorders of the locomotor apparatus will contribute to timely preventive measures in terms of physical load and a corresponding rehabilitation for eliminating the deve­lopment of the main disorder.

A case of a misdiagnosis of myasthenia in a patient with undifferentiated connective tissue dysplasia

We present a clinical case of a wrong diagnosis of myasthenia in a patient with incomplete ptosis slowly progressing for 5 years, which, by its isolation and asymmetry, imitated ocular symptomatology in myasthenia. The clinical picture was not consistent with the diagnostic criteria for myasthenia. Moreover, other pathology according to laboratory and instrumental studies was absent. There was observed a combination of signs of connective tissue dysplasia in the heart in the form of valve syndrome, skeletal abnormalities, eye pathology syndrome, which made it possible to diagnose the syndrome of undiff erentiated connective tissue dysplasia. Diffi culties in the diff erential diagnosis were polysystemic lesions, the absence of pathognomonic tests for the detection of connective tissue dysplasia, and features of a diff erential diagnosis with ocular myasthenia gravis.

PECULIARITIES OF MORPHOLOGICAL CHANGES OF TISSUES AFTER HERNOPLASTIC DURING RECURRENCE OF POSTOPERATIVE VENTRAL HERNIAS

Considering the results of surgical treatment of postoperative ventral hernias, a significant number of relapses, comprising 4.3-46 %, should be noted, and for large and giant postoperative ventral hernias reaches 80 %. The lack of clear criteria for assessing the local response of the tissues of the anterior abdominal wall to the implantation of various types of mesh implants and the associated early wound postoperative complications and relapses prompts further study of the morphological features of the anterior abdominal wall tissue responses in patients with primary and postoperative ventral hernias. Aim of the study: to establish morphological patterns of the restructuring of the tissues of the anterior abdominal wall in patients with recurrent ventral hernia. Material and methods. An in-depth comprehensive clinical, instrumental and laboratory examination of 1419 patients with primary and postoperative ventral hernia was performed. There were 250 patients with recurrent ventral hernia (17.62 %). Results and conclusions. The use of a “light mesh” in patients with recurrent postoperative ventral hernia in the presence of concomitant NDCT appears to be significantly less lymphohistiocytic and leukocyte infiltration for the surrounding tissue, and reduces the likelihood of postoperative complications. Morphological changes in the tissue of the anterior abdominal wall with NDCT strongly indicate a disorder of its architectonics. It is clinically reflected in the formation of postoperative and recurrent hernias. Separate muscle fibers lose cross striation. In the muscular aponeurotic component without signs of connective tissue dysplasia, the application of various types of nets leads to the formation of elastic and collagen fibers, with minor changes in their architectonics and minimal cell infiltration of the immune inflammation of the extracellular matrix. Disintegration, destructive-dystrophic changes in the architectonics of the connective tissue were observed in patients with signs of NDCT in relapses. When using the “heavy” mesh, significant disorientation, collagenolysis, reduced synthesis of all types of collagens, the phenomenon of thickening of elastic fibers and elastolysis were observed. Inflammatory infiltration, triggered by immune inflammation cells, increased mucoid and fibrinoid edema, which led to homogenization, local lysis, and focal tissue destruction.

ОСОБЛИВОСТІ МОРФОЛОГІЧНИХ ЗМІН ТКАНИН ПІСЛЯ ІМПЛАНТАЦІЙНОЇ ГЕРНІОПЛАСТИКИ ПРИ РЕЦИДИВАХ ПІСЛЯОПЕРАЦІЙНИХ ВЕНТРАЛЬНИХ ГРИЖ

Considering the results of surgical treatment of postoperative ventral hernias, a significant number of relapses, comprising 4.3-46 %, should be noted, and for large and giant postoperative ventral hernias reaches 80 %. The lack of clear criteria for assessing the local response of the tissues of the anterior abdominal wall to the implantation of various types of mesh implants and the associated early wound postoperative complications and relapses prompts further study of the morphological features of the anterior abdominal wall tissue responses in patients with primary and postoperative ventral hernias. Aim of the study: to establish morphological patterns of the restructuring of the tissues of the anterior abdominal wall in patients with recurrent ventral hernia. Material and methods. An in-depth comprehensive clinical, instrumental and laboratory examination of 1419 patients with primary and postoperative ventral hernia was performed. There were 250 patients with recurrent ventral hernia (17.62 %). Results and conclusions. The use of a “light mesh” in patients with recurrent postoperative ventral hernia in the presence of concomitant NDCT appears to be significantly less lymphohistiocytic and leukocyte infiltration for the surrounding tissue, and reduces the likelihood of postoperative complications. Morphological changes in the tissue of the anterior abdominal wall with NDCT strongly indicate a disorder of its architectonics. It is clinically reflected in the formation of postoperative and recurrent hernias. Separate muscle fibers lose cross striation. In the muscular aponeurotic component without signs of connective tissue dysplasia, the application of various types of nets leads to the formation of elastic and collagen fibers, with minor changes in their architectonics and minimal cell infiltration of the immune inflammation of the extracellular matrix. Disintegration, destructive-dystrophic changes in the architectonics of the connective tissue were observed in patients with signs of NDCT in relapses. When using the “heavy” mesh, significant disorientation, collagenolysis, reduced synthesis of all types of collagens, the phenomenon of thickening of elastic fibers and elastolysis were observed. Inflammatory infiltration, triggered by immune inflammation cells, increased mucoid and fibrinoid edema, which led to homogenization, local lysis, and focal tissue destruction.

Meyer dysplasia in children’s connective-tissue disorders phenotype (the results of observation in the Municipal Children’s Polyclinic №2, Stavropol city)

Aim. The research of the prevalence, nosological structure, clinical presentations, and pathogenetic features of different forms of coxal epiphyseal pathology including Meyer dysplasia in small children based on the results of clinical and instrumental observation on outpatient orthopedic admission.
 Material and methods. In 12,000 children from 0 to 5 years, an orthopedic examination was conducted with an assessment of external dysmorphogenetic signs of connective tissue dysplasia, an ultrasonic examination of hip joints, an in-depth X-ray examination. The step-by-step examination algorithm was structured and detailed according to the presence and severity of the coxal region pathology, childrens age.
 Conclusion. The combination of dysplastic phenotype with joints formation inhibition in children aged 1 year is a predictor of Mayers dysplasia and must be the reason for a detailed examination of the hip joints with use of visual diagnostic methods.

Electrical function of the abdominal muscles after combined plastic of extensive median hernias in the context of connective tissue dysplasia

Relevance. Improving the electrical function of abdominal muscles in patients with extensive median hernias of the anterior abdominal wall can be facilitated by optimizing the choice of methods for combined hernioplasty, taking into account the clinical severity of connective tissue dysplasia among the hernia carriers.
 Objective. Study the electrical function of abdominal muscles after the methods of combined hernioplasty of extensive median hernias, taking into account the severity of connective tissue dysplasia among the hernia carriers.
 Results. The average numbers of electromyogram frequencies of the abdominal muscles of patients with extensive median hernias from the group without clinical signs of connective tissue dysplasia were almost the same after all the applied methods of combined hernioplasty. The predominance of the rectus muscles electric function over the lateral abdominal muscles among the patients of this group was 33,5 %.
 Electrofunctional rehabilitation of the abdominal muscles of patients in the second group of examinations depended on the method of combined hernioplasty and changed in the event of an increase or decrease in the severity of connective tissue dysplasia. The recovery of electroactivity of abdominal muscles in the postoperative period in patients from the second group was more significant with an increase in the number of abdominal muscles applied to aponeuroses and vagina of relaxing sections, which contributed to an increase in mobility and contractility of the musculoaponeurotic layers of the anterior abdominal wall.
 Conclusions. Thus, with an increase in the severity of connective tissue dysplasia in patients with extensive median abdominal hernias, the method of combined hernioplasty with the most pronounced relaxing effect in relation to the anterior abdominal wall promoted optimal rehabilitation of abdominal muscles.

CLINICAL AND GENETIC FEATURES OF CONNECTIVE TISSUE DYSPLASIA SYNDROME IN CYSTIC FIBROSIS IN CHILDREN

The aim of the study was to determine the clinical and genetic features of the syndrome of undifferentiated connective tissue dysplasia (CTD) in cystic fibrosis (CF) children and the possible modifying effect of polymorphisms of connective tissue genes on the development of severe pathology of the bronchopulmonary system in CF cases. 188 patients with the moderate to severe course of СF, aged from 3 to 17 years were examined. In СF patients significant associations have been established between polymorphisms of matrix metalloproteinase 3, the phenotypic signs of CTD and severe clinical signs of respiratory disorders.

Comparative analysis of chronic constipation clinical course in children with connective tissue dysplasia

Chronic constipation is the one of the most common pathologies of gastrointestinal tract in childhood. The aim of the study was to carry out a comparative analysis of clinical characteristics of chronic constipation in children with both connective tissue dysplasia symptoms and without them. 96 children aged of 4-17 years with chronic constipation were examined. The diagnosis of connective tissue dysplasia signs was executed with the aid of table by V.G. Arsentiev consisted of modified diagnostic signs. Children with connective tissue dysplasia were revealed to manifest chronic constipation with more severe complicated course 6.7 times more often, that serves a cause to detect a physical disability due to disease. 42% of patients with chronic constipation have deficit of body mass. Despite a long period of time from the onset of symptoms of constipation in children, over 36% of parents had not sought medical help. This indicates to their insufficient medical activity and determines the needfor early preventive measures aimed at prevention of the chronicity of this pathology

Pathological changes in extra- and intracranial vessel in young adults in the aspect of sudden death

To determine the main causes and pathomorphological characteristic of extra- and intracranial vessel pathological changes in young adults in the aspect of sudden death (SD). The authors investigated 10485 SD cases in young adults in the period from 2012 to 2016 (5 years) according to Moscow coroner bureau autopsy data. Morphological, chemical, histological, histochemical methods (staining with hematoxylin and eosin, van Gieson's stain, Masson's trichrome stain) were used. Sudden death events of young adults are up to 11.93% of all non-violent death cases (81.18% of males, 18.81% - females). The mean age of the male group was 24.6, the female group 29.1. Intracranial vessel pathology was found in 549 cases (5%). Inborn aneurysms were identified as follows: arterial (69%), arteriovenous (26%) and arteriovenous malformations not diagnosed during lifetime (5%). In 14% of cases, ruptured aneurysms were combined with small extracranial ones on the convexital brain surface that show no signs of impairment. Histological investigation of aneurysms of any localization demonstrated the absence of multilayered vessel wall structure - elastic compartment with signs of disorganization, twists or total connective tissue replacement. In 93% of deaths caused by intracranial vessels rupture, the following signs of connective tissue dysplasia (CTD) were found: tall height, asthenic constitution, breastbone and cardiovascular pathology, mitral valve prolapse, aorta hypoplasia and so on. During the detailed vessel investigation in CTD group, a complex of pathological characteristics (total hypoplasia, wall thinning, S-form vertebro-basilar system vessels) was found. CTD is a pathology that becomes a risk factor for intracranial aneurysms formation and rupture in case of severe physical activity or emotional stress. Hemorrhagic infarct or non-traumatic subarachnoidal hemorrhage development lead to SD in young adults. Prompt CTD markers identification will provide new possibilities to prevent SD of youth.

Express diagnosis of connective tissue dysplasia in conditions of ambulatory-polyclinic service

Aim. To detect the most informative signs of connective tissue dysplasia (CTD) and develop the method for CTD express diagnosis in conditions of ambulatory and stationary traumatologo-orthopedic service.
 Materials and methods. Sixty practically healthy persons were examined. To diagnose the connective tissue pathology, there were used the criteria developed by S.K. Evtushenko (2002), T.Yu. Smolnova (2003) and T.I. Kartunova (2006). Eighteen the most informative criteria were chosen.
 Results. The paper is devoted to a widespread and yet not fully studied problem – the connective tissue dysplasia. The basic signs of this disease were analyzed. The most informative criteria of connective tissue dysplasia were singled out. Express test for primary diagnosis of this pathology in conditions of traumatologo-orthopedic service was offered.
 Conclusions. Express test of the state of connective tissue structure is simple to perform. It can be used to improve surgical aids in connective tissue dysplasia, when additional stabilization of loco motor system is required.

Markers of Connective Tissue Dysplasia in Cervical Artery Dissection and Its Predisposing Factors

Introduction: Cervical artery dissection (CeAD) is the most frequent cause of ischemic stroke in young adults. Dysplasia of arterial wall underlies its weakness and predisposes to dissection. Objective: To assess clinical signs of connective tissue dysplasia (CTD) in patients with CeAD using special criteria of CTD, and to evaluate predisposing factors for the CeAD development. Materials and methods: We examined 80 patients (mean age 38.5 ± 13.5; 49 females) with CeAD verified by MRI/MRA and 20 healthy volunteers. We estimated 48 signs of CTD included into the Villefranche diagnostic criteria for the vascular type of Ehlers–Danlos syndrome, the Ghent criteria for Marfan syndrome, the Beighton criteria of joint hypermobility and some others, as well as history of headache. Each sign was counted as present or absent, yielding the individual and mean CTD group scores. Results: Clinical CTD signs were more frequently detected in patients with CeAD than in controls (mean score 7.9 ± 3.6 vs. 4.6 ± 2.5; p ≤ 0.05. Conclusions: The presence of the 4 main and 2 additional diagnostic criteria of CTD has a high predictive value of CeAD and can be used as its diagnostic and prognostic criterion. Dissection of the arterial wall with signs of dysplasia is provoked by various additional factors.

Evaluation of symptoms, signs of connective tissue dysplasia and morphoanatomical characteristics of cerebral vessels in patients with intracranial aneurysms

Evaluation of symptoms, signs of connective tissue dysplasia and morphoanatomical characteristics of cerebral vessels in patients with intracranial aneurysms

THE ROLE OF DISPOSITION OF CONNECTING TISSUE IN THE RISE OF NONTRAUMATIC SUBARACHNOIDAL HEMORRHAGE IN YOUNG AGE

Purpose. To identify possible effects of systemic dysmorphogenesis of connective tissue on the formation and characteristics of the course of nontraumatic subarachnoid hemorrhage at a young age, with further development of an algorithm for screening physical examination of patients with an increased risk of aneurysmal hemorrhage.Patients and methods. A group of examined patients who underwent SAH under the age of 45 years were 78 people. Methods: neurological examination according to a conventional scheme using traditional methods with assessment of the main functional systems and determining the depth of their damage, determination of constitutional types, assessment of the degree of phenotypic manifestation of DCT by the sum of scores, general clinical laboratory, neuroimaging, and statistical.In order to determine the signs of connective tissue pathology in all patients with SAH, the general examination included determining the constitution, height, weight with the definition of the Ketle index. Attention was also paid to the presence of visible small vessels on the face, chest and other parts of the body, telangiectasias, angiomas, thoracic cell deformities, scoliosis, flat feet, arachnodactyly, diastase of the rectus abdominis muscles, hernia of the anterior abdominal wall. Among the many undifferentiated phenotypic signs of DCT, external (changes in the skin and its derivatives, changes in bones, joints, spine, features of the structure of the hands and feet, peculiarities of the structure of the auricle, eyes, oral cavity, craniocephalic features) and internal (the presence of additional chords, heart valve prolapses, nephroptosis and kidney development abnormalities).Results. When examining 78 patients with subarachnoid hemorrhage at a young age, the risk factors for its development were revealed (non-closed Willisian circle (86.6%), pathological tortuosity of the cerebral vessels (81.6%), dysplastic changes in the heart (68.3%) and kidneys (63.3%), which significantly differed from the comparison group (arterial hypertension – 97.8%, heart disease (IHD, atrial fibrillation) – 53.2%, hypercholesterolemia – 97.8%.) The value of systemic dysplastic change in connective tissue in the formation and flow of SAC at young age is shown. The constitutional-anatomical and functional features, characteristic for external and internal phenotypic signs of connective tissue dysplasia in different age groups, are revealed, and the role of additional vascular risk factors in the course of SAH are found. Conclusion. The complex study of connective tissue dysplasia as a risk factor for the development of aneurysms with a clinical manifestation in the form of SAH at a young age can be used in clinical practice for the timely detection and surgical treatment of aneurysms without signs of SAH. The obtained data can become a basis for developing an algorithm for screening physical examination of patients with an increased risk of aneurysmal hemorrhage.

ДИСПЛАЗИЯ СОЕДИНИТЕЛЬНОЙ ТКАНИ У ЮНЫХ И МОЛОДЫХ СПОРТСМЕНОВ: ОБЗОР ЛИТЕРАТУРЫ

Aim. The aim of this article is to review literature data on the modern concepts of connective tissue dysplasia (CTD), its prevalence and impact on adaptive abilities in children and young persons, including those engaged in sports and exercise activities. Results. Most studies demonstrate the prevalence of CTD in athletes compared with non-athletes. This paper presents the data on the impact of CTD on the ability of young athletes to adjust to regular intense exercise loads as well as to associated life risks. Conclusions. The article deals with various opinions on possible maladaptation of the cardiorespiratory system to physical loads in athletes with CTD and correlations between CTD and sudden cardiac death in young athletes. Taking into account the extremely high frequency of the detection of cardiac dysplasia markers (98%) and other phenotypic signs of CTD during the postmortem examination of sudden cardiac death in young athletes, we paid special attention to life threatening arrhythmias associated with dysplasia of the cardiorespiratory system. Moreover, we highlighted the issues of the admission to trainings for athletes with various types of CTD and practicability of individualized approach and training corrections depending on CTD manifestation.

Collagen-associated syntropy in children with functional disorders of the digestive system

Objective. The aim of this study was to determine the features of collagen-associated syntropic pathology in children with functional gastrointestinal disorders. Materials and methods . 63 children with functional gastrointestinal disorders aged 2.5 to 16 years were examined. Two clinical groups of patients depending on the leading clinical manifestations were identified: children with irritable bowel syndrome – 39 patients (61.9 %) and children with functional disorders of the biliary tract – 24 (38.1 %) of patients. All children, except for the general clinical examination, were evaluated for individual phenotypic signs of connective tissue dysplasia using diagnostic criteria for the severity of connective tissue dysplasia by L. N. Abbakumova, and collagen type III alpha 1 polymorphism (rs1800255 2092G>A) by PCR-RFLP (restriction fragment length polymorphism) method was determined. Results. Digestive system syntropic pathology was defined in 84.13 % (95 % CI 74.93 – 93.33) of the examined patients. A statistically significant association was found between the frequency of gallbladder anomalies (χ 2 = 8.75; P = 0.003), pancreas exocrine function violation (χ 2 = 8.97, P = 0.003), metabolic disturbances presence in the form of secondary acetonemic syndrome (χ 2 = 8.5; P = 0.001) and functional disorders of the biliary tract. The severity of connective tissue dysplasia in preschool children was characterized by mild and moderate manifestations (OR = 4.27 (95 % CI 1.32 – 13.82; P = 0.025)), there were severe manifestations of dysplasia in the older children group (OR = 0.23 (95 % CI 0.07 – 0.76, P = 0.025)). By the results of molecular-genetic test the most of children – 47.62 % (95 % CI 35.04 – 60.2) were genotyped for heterozygous rs1800255, COL3A1 G/A polymorphism, with significant prevalence of patients with the biliary tract functional disorders group (P = 0.008), which associated with wide range of accompanying pathology (P = 0.002) and severe dysplastic signs (P = 0.034). Conclusions. The wide prevalence of the syntropic pathology in children with functional gastrointestinal disorders has been determined. Genetic polymorphism with predominance of the G / A genotype has been revealed. The statistically significant correlation of the G / A genotype with severe phenotypic signs of connective tissue dysplasia has been shown. The association of genetic polymorphism with age and functional disorders of the biliary tract has been established.

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.

Phenotypic symptoms of conjugate tissue dysplasia in persons of young age with mitral valve prolapse.

In connection with the significant increase in complications, developing in young people with mitral valve prolapse (MVP), the study of phenotypic signs and peculiarities of the formation of this pathology is topical. A survey of 135 young people aged 17-25 years with mitral valve prolapse was conducted. The patients were examined by specialist-doctors: neuropathologist, otorhinolaryngologist, surgeon, traumatologist and oculist to exclude organic pathology; the distribution of phenotypic signs of connective tissue dysplasia depending on degree of MVP was evaluated. It was established that in young people with MVP of 2nd degree external and visceral manifestations of connective tissue dysplasia occur significantly more often than in persons with MVP of 1 degree.

Abstract WP187: Diagnostic Significance of Connective Tissue Dysplasia Signs in Patients With Cervical Artery Dissection

Introduction: Cervical artery dissection (CeAD) is the most frequent cause of ischemic stroke in young adults. It is suggested that connective tissue dysplasia (CTD) underlies in the arterial wall weakness predisposing to dissection. The aim : to elucidate CTD signs that have prognostic and diagnostic significance for CeAD. Methods: We examined 80 patients (mean age 38,5±13,5; 49 females, 61,2%) with CeAD, verified by MRI/MRA and 20 healthy volunteers (mean age 30,3±6,7; 12 females 60%). We assessed 48 signs selected from criteria of the vascular type of Ehlers-Danlos syndrome, Marfan syndrome, Beighton criteria of joint hypermobility and other. In addition we estimated arterial hypotension (≤100/70 mm Hg), and headache in the past history. Each sign was counted as present or absent, resulting in an individual CTD score. On the basis of linear regression analysis these signs were divided into major and minor signs. Results: CTD signs were found more frequently in CeAD patients than in the control (mean score 7,9 ± 3,6 vs 4,6 ± 2,5; p<0.0039). The following CTD signs were significantly more often in patients than in control: arterial hypotension (51% vs 20%, Р=0,018), extensive bruising (40% vs 10%, Р=0,016), widened atrophic scars (23% vs 0%, Р=0,02), headache in the past history (60% vs 35%, p=0,027) - major signs; translucent skin (29% vs 5%, Р=0,037), hight palate (20% vs 0%, Р=0,037), nasal bleeding (34% vs 15%, Р=0,044), blue sclera (20% vs 5%, Р=0,05), propensity to constipation (30% vs 0%, Р=0,05) - minor signs. If there were 4 major and 2 small signs logistic regression model gave 75% predictive value of dissection. The reliability of these signs was confirmed by ROC analysis (AUC 0,90 [95% CI 0,84-0,96], sensitivity - 86%, specificity - 85%). Conclusion: CTD signs are highly prevalent in patients with CeAD that is in accordance with our morphological data that arterial wall dysplasia is a main cause of spontaneous dissection. The presence of 4 major and 2 minor signs may be used to estimate the predisposition to CeAD and in some cases as additional argument at clinical diagnosis.