Severity Of Connective Tissue Dysplasia Research Articles

Results of surgical treatment of hernias of the anterior abdominal wall in patients with connective tissue dysplasia syndrome

Relevance. The problem of surgical treatment of hernias of the anterior abdominal wall remains relevant. Despite the introduction of new technologies, the results of surgical interventions cannot be considered satisfactory. The development of hernias and their relapses is facilitated by connective tissue dysplasia syndrome, which manifests as phenotypic signs, disorders of the autonomic nervous system, and morphological changes in the structure of the connective tissue.Objective. To improve the results of surgical treatment of hernias of the anterior abdominal wall in patients with connective tissue dysplasia syndrome.Materials and methods. The study was based on clinical observations and studies of 497 patients with hernias of the anterior abdominal wall. Inguinal (29 %) and postoperative hernias (21 %) predominated. In the structure of recurrent hernias, postoperative (47 %) and inguinal (42 %) hernias were more often observed. Hernioautoplasty was performed in 31 %, plastic surgery using a mesh endoprosthesis — in 54 %, endoscopic hernioplasty — in 15 % of patients. The severity of the clinical, morphological, and metabolic signs of connective tissue dysplasia syndrome was assessed. The concentration of free hydroxyproline in the blood was determined as a marker of connective tissue metabolism. The state of the autonomic nervous system was assessed using variational pulsometry. To assess the state of collagen in connective tissue, a morphological study of the aponeuroses of the muscles of the anterior abdominal wall was performed in the clinic and experiment.Results. The overall incidence of dysplasia in hernias of the anterior abdominal wall was 48 %. The highest incidence of connective tissue dysplasia was detected in recurrent hernias (70 %). Studies of the level of free hydroxyproline in abdominal hernias have shown the dependence of this marker on the degree of connective tissue dysplasia. In cases of recurrent hernias, the highest intensity of collagen biodegradation was observed. A study of the functional state of the autonomic nervous system revealed a predominance of sympathetic activity in abdominal wall hernias with an increase in the tension index by more than 4 times. An increase in the severity of dysplasia is accompanied by an increase in sympathetic activity. Histological studies in patients with abdominal hernias revealed characteristic changes in the morphological structure of the connective tissue. The average thickness, specific area, brightness of staining, and orientation of collagen fibers in postoperative and recurrent hernias were significantly different compared to the group with primary hernias (p˂0.05). Additionally, an experiment was performed on 30 laboratory animals (white rats) to determine the optimal conditions for healing of the aponeurosis of the anterior abdominal wall. The activating effect of prozerin on the process of histogenesis in the wound was revealed. Based on the results of the study, the surgical treatment of hernias was assessed depending on the type of hernioplasty and the severity of connective tissue dysplasia. It has been established that with increasing severity of dysplasia, the frequency of relapses increases by 2.2–3.4 times. With the progression of dysplasia, the frequency of relapses increased by more than twice. The use of the endoscopic hernioplasty method reduced the risk of recurrent hernias by 9 times.Conclusion. In externally localized hernias, the incidence of connective tissue dysplasia ranges from 34 % to 70 %. In patients with connective tissue dysplasia syndrome after hernia autoplasty, the frequency of hernia recurrence is 3.4 times higher. Drug correction of sympathetic activity along with alloplasty increased collagen synthesis intensity by 36 %. The choice of hernia repair method should be determined by the type of hernia, the age of the patient, and the severity of connective tissue dysplasia.

Clinical cases of upper jaw constriction in children and adolescents depending on severity of connective tissue dysplasia

Clinical cases of upper jaw constriction in children and adolescents depending on severity of connective tissue dysplasia

Structural characteristics of dental anomalies in schoolchildren due to the vault height of the hard palate with different degrees of severity of connective tissue dysplasia

Structural characteristics of dental anomalies in schoolchildren due to the vault height of the hard palate with different degrees of severity of connective tissue dysplasia

Сравнительная оценка хирургических методов лечения пролапса гениталий у женщин репродуктивного возраста лапароскопическим доступом

An urgent problem at present is an increasing number of women of reproductive age with pelvic floor muscle failure. The purpose — to evaluate the results of organ-preserving surgical correction of genital prolapse in women of reproductive age. Material and methods. This article describes the results of observations in 17 patients of reproductive age with genital prolapse. All patients were assessed for gynecological, somatic status, as well as the severity of connective tissue dysplasia, sexual activity, and anamnesis. The women were divided into two groups: the first group underwent laparoscopic uteropromontopexy with suturing of sacro-uterine ligaments to promontory; the group underwent a two-level laparoscopic uteropromontopexy with suturing of sacro-uterine and cardinal ligaments to promontory. We evaluated both the immediate and long-term results of the correction. Results. The study confirmed that the two-level promontofixation should be considered the main method of surgical treatment of genital prolapse in women of reproductive age. Conclusion. Careful diagnosis in the preoperative period and the presence of connective tissue dysplasia allows one to predict the likelihood of a genital prolapse recurrence and choose a specific method of surgical correction.

Cofactorial herniotransformation peculiarities of midline abdomen

Relevance. Recently, much attention has been paid to the study of the role of various risk factors in the pathogenesis of herniation along the midline of the abdomen. The question of their interrelation with another equally important predictor of herniogenesis - connective tissue insufficiency remains understudied. The aim of the present study is to investigate the severity of connective tissue dysplasia and peculiarities of its interaction with other risk factors in different variants of midline abdominal herniotransformation. Materials and Methods. The examined group included 150 (89.2%) patients with postoperative median hernias of various sizes and 18 (10.8%) patients with primary hernias of the white line of the abdomen. In 12 (8%) cases, relapses of postoperative hernial protrusions were noted. In 12 (10.5 %) cases, relapses of postoperative hernial protrusions were noted. The surveyed group included 109 (64.8 %) women and 59 (35.2 %) men. Risk factors for median herniogenesis were evaluated in the opposite sense relative to the severity of connective tissue pathology. Results and Discussion. We evaluated the risk factors of median herniogenesis in the opposite value and direction with regard to the severity of connective tissue pathology in the observation groups. It was found out that the leading role in herniotransformation of the medial abdominal line belongs to the suppuration of postoperative medial wounds, relaparotomy and heavy physical load with the role efficiency of 66.6 %, 56.2 % and 54.5 % respectively. The lowest level of connective tissue dysplasia was observed in the groups where the risk factors of median herniogenesis were the age of patients, the presence of relaparotomy in the history and heavy physical activity. Only in the observation group, where pregnancy and childbirth in the anamnesis were the predictors, the patients with white line hernias had less severe connective tissue insufficiency by 27,9 % in comparison with the patients with postoperative median hernias. In patients with recurrent midline hernias in all risk factors, the severity of connective tissue dysplasia always reached the maximum score. Conclusion. At any predictor of hernia formation or their combined effect, the severity of connective tissue dysplasia always remained severe, which confirms one of the leading roles of connective tissue pathology in the formation of medial abdominal hernias.

Oxidative balance disorders as a factor of formation and progression of hypoandrogenism in boys

Objective — to study the features of the phenotype of adolescent boys with hypoandrogenism and hereditary burdened disorders of the reproductive system. Materials and methods. The analysis of pedigrees was carried out in 45 families of adolescent boys 12—17 years old with hypoandrogenism (HA) and burdened family history of reproductive system disorders, which were examined in the laboratory of medical genetics of the State Institution «CAHC NAMS». The control group consisted of 47 families of healthy peers, residents of Kharkiv and Kharkiv region.The presence of minor developmental anomalies (MDA) was assessed in adolescent boys with HA. The comparison groups consisted of adolescent boys with systemic connective tissue dysplasia (CTD) and healthy adolescent boys with normal physical and sexual development, examined by specialists of the institute. Mathematical calculations were carried out using statistical programs Excel and SPSS Statistics 17.0. To determine the significance of differences between the groups, the Student’s t-test was used. To assess the likelihood of sexual dysfunction development in younger family members, the odds ratio indicator was calculated. Results and discussion. Hereditary burden on reproductive system disorders was registered in 66.7 % of families of adolescent boys with HA. Inheritance of pathological traits in generations was observed with the same frequency in the paternal (33.7 %), maternal (30.0 %) and both (paternal and maternal) lines simultaneously (36.2 %). Fathers of boys had delayed sexual development in puberty twice as often as mothers (26.7 vs 13.3 %, p < 0.05), and four times more often in comparison with the frequency in the population (2.5—9.8 %). In the presence of hereditary burden on reproductive diseases, the risk of development of sexual development disorders in other relatives increased in 21.5 times.Assessment of phenotype of adolescent boys with HA showed that 65.0% of patients had an average level of minor developmental abnormalities (from 7 to 10 MDA); high level (more than 14 MDA) was not observed. The majority of MDA were revealed in the craniofacial zone (57.3 %). When compared with healthy peers, boys with HA more often had average and elevated MDA levels. Patients with HA in comparison with boys with MDA less often demonstrated the dysmorphic auricles, spinal deformity, dysplastic tooth growth, up-slanting palpebral fissures and ocular hypertelorism, and more often the sandal gap. Conclusions. The findings indicate the familial accumulation of reproductive system disorders and increased risk of these disorders development in other children in these families. Among the examined adolescent boys with HA, 65.0 % had an average level of minor developmental abnormalities and an unclassified phenotype, which may indicate a lower severity of connective tissue dysplasia in the patient group.

СОСТОЯНИЕ СИСТЕМЫ ЭНЕРГООБЕСПЕЧЕНИЯ КЛЕТОК СЛИЗИСТОЙ ОБОЛОЧКИ ЖЕЛУДКА У ДЕТЕЙ С ХРОНИЧЕСКИМ ГАСТРИТОМ И ДИСПЛАЗИЕЙ СОЕДИНИТЕЛЬНОЙ ТКАНИ

Background. Connective tissue dysplasia (CTD) has a modifying effect on the course of chronic gastritis (CG). Objective. To assess the energy supply system state of the gastric fundic and pyloric mucosa cells in children with chronic gastritis associated with mild to severe CTD. Material and methods. 34 school-age children with CG were examined. The patients underwent esophagogastroduodenoscopy with targeted biopsy of the gastric mucosa followed by histochemical examination. The presence and severity of CTD were verified according to T. Milkowska-Dimitrova’s clinical criteria (1987). Results. Inhibition of succinate dehydrogenase was observed in gastric fundic mucosa cells in children with CG regardless of the CTD severity, thus indicating the suppression of the most effective way of obtaining energy. An increase in the activity of acid phosphatase was established, indicating the activation of lysosomes associated with increased autophagy, aimed at removing damaged membranes and organelles to cleanse the cytoplasm of cells. An increase in the activity of all cytoplasmic enzymes in question was observed in the pyloric region, demonstrating the activation of the processes of both aerobic and anaerobic methods of obtaining energy. Conclusions. Significant disturbances were detected in the energy supply system of exocrinocytes of the gastric mucosa in children with CG, regardless of СTD severity.

Functional state of the digestive organs in patients with celiac desease associatedFunctional state of the digestive organs in patients with celiac desease associated with connective tissue dysplasia with connective tissue dysplasia

The article presents the results of our own research devoted to the study of the functional characteristics of the digestive system in patients with celiac disease associated with connective tissue dysplasia (CTD).Materials and methods. The study included 90 patients from the register of adults with celiac disease. To assess CTD, patients underwent clinical and laboratory- instrumental examination, including ultrasound of the abdomen organs, kidneys and heart, EGDS. The assessment of the functional state of the gastrointestinal tract was carried out according to the ultrasound data of the abdomen organs, coprogram and PEGEG.Results. The results of the study showed that all patients had signs of CTD with involvement of at least two organ systems. The most common visceral stigmas of dysplasia were MVP (66.7%), gallbladder anomalies (53.3%), tracheobronchial dyskinesia (35.6%) and signs of nephroptosis (30.0%). Anomalies of the gallbladder included single bends in the body area — 26 people (28.9%) and in the neck area –5 people (5.6%), and double bend — S-shaped gallbladder — 17 people (18.9%). At the same time, an increase in the proportion of gallbladder anomalies was revealed as the severity of CTD increased, with significant differences in the groups in patients with an S-shaped gallbladder (p<0.05), which correlated with biliary sludge and signs of maldigestion. According to PEGEG data, an increase in tonic activity (Pi / Ps) at the frequency of the duodenum with an increase in the degree of CTD was revealed, with the maximum values in group 3 patients being 3.84 ± 1.03, which reflects the presence of hypertensive dysfunction.Conclusion. The functional state of the digestive system in celiac patients with signs of CTD is characterized by disorders of the gastroduodenal complex and the biliary system. A high degree of CTD in celiac disease patients should be considered as an independent risk factor for motor disorders of the upper gastrointestinal tract and biliary system, which must be taken into account when carrying out therapeutic and prophylactic measures.

The diagnostic method for maxilla constriction biometric parameters due to the hard palate vault height in children and adolescents with various degrees of severity of connective tissue dysplasia

The diagnostic method for maxilla constriction biometric parameters due to the hard palate vault height in children and adolescents with various degrees of severity of connective tissue dysplasia

The effect on the electroactivity of the abdominal muscles of the level of connective tissue dysplasia and the method of combined hernioplasty of the inguinal hernia

Introduction. Combined methods of hernioplasty appear to be a promising surgical treatment of inguinal hernias, allowing reducing suture tension due to the contraction and stretching of the abdominal muscles optimized during the operation. This protects the inguinal region from relapse in severe connective tissue dysplasia.The aim of research was to study the influence of the level of connective tissue dysplasia and methods of combined hernioplasty of inguinal hernias on the electroactivity of the abdominal muscles.Methods. The study included 151 patients with inguinal hernias. The electroactivity of the abdominal muscles and the level of severity of connective tissue dysplasia were studied in these patients before and after combined methods of hernioplasty according to Milkovskaya Dmitrova diagnostic scheme; this also includes tension-reducing mechanism.Results. In the preoperative period, the decrease in the parameters of electromyograms compared to the healthy side in the inguinal region was 67.2%, compared to the region over the group of lateral muscles - 55% and compared to the region over the rectus abdominis muscles - 23.6%. The increase in the electrical activity of the rectus muscles against the background of a decrease in the severity of connective tissue dysplasia to the middle and light levels obtained 43.5% and 77.9%, respectively.The average frequency parameters of electromyograms of the abdominal muscles after combined tension-reducing hernioplasty of inguinal hernias seemed to be most significant: in the inguinal regions on the side of the hernia they amounted to 91.95 7.1 vibrations per second, in the region over the group of lateral muscles - 94.61 4.6/s and in the region over the rectus abdominis muscles - 93.7 2.9/s. Moreover, approximately similar rehabilitation of the rectus and lateral abdominal muscles was reported, which allowed balancing oppositely directed tension forces in the abdominal wall.Conclusion. Thus, in patients with inguinal hernias before surgery, the decrease in the electroactivity of the lateral muscle group was more pronounced than the decrease in the electroactivity of the rectus abdominis. The combined tension-reducing hernioplasty of inguinal hernias contributed to the most significant electromyographic rehabilitation of the abdominal muscles.

Диференційована тактика ведення вагітності у жінок з передчасним розривом плодових оболонок

The problem of premature rupture of membranes (PROM) is unfortunately still relevant in modern obstetrics and perinatology, especially in preterm pregnancy, and leads to 20% of all cases of perinatal loss. Among the possible causes, a lot of attention has recently been paid to disorders of connective tissue structure of genetic origin. The article provides an overview of current medical literature on the causes and diagnosis of PROM. Preliminary own data on the positive effect of the advanced algorithm for detecting undifferentiated connective tissue dysplasia (UCTD) on obstetric and perinatal outcomes are also given. The objective: to clarify the causes of PROM, the role of the severity of connective tissue dysplasia to predict risk factors for preterm birth, especially when combined in pregnant women with anemia. Materials and methods. A total of 60 pregnant women with IDF were examined. During the survey, laboratory and instrumental methods were used. Results. Quality of life in women with NDTT had an inverse mean relationship between the patients’ well-being and the number of PST phenotypic manifestations (r = 0.653; p> 94%). In addition, a high constitutionally determined level of personal anxiety was established. Quality of life depends on the number and severity of phenotypic abnormalities, ie the more signs of connective tissue dysplasia (joint hypermobility, scoliosis, nephroptosis, increased bleeding, myopia, pronounced varicose veins, etc.), the lower this indicator. As pregnancy progressed, worsening of health and decrease in quality of life in patients with NDST was observed. Conclusion. The advanced algorithm has demonstrated the positive effects in pregnant women with undifferentiated connective tissue dysplasia on obstetric and perinatal delivery, and the findings suggest that it is practiced in health care. Key words: premature rupture of membranes, preterm pregnancy, undifferentiated connective tissue dysplasia.

Prognostic value of connective tissue dysplasia in children with urinary tract infection

Research purpose. To determine the frequency and severity of connective tissue dysplasia in children with urinary tract infection to predict the course of the disease and justify the scope of the survey.Characteristics of children and research methods. A prospective study was conducted during 5 years, which included 120 children with community-acquired urinary tract infection at the age of 1 to 17 years. There were 90 children with acute pyelonephritis and 30 patients with acute cystitis. All children underwent a clinical and instrumental examination with a study of the manifestations of connective tissue dysplasia and assessment of its severity.Results. Connective tissue dysplasia occurred in 30% of children with urinary tract infection and depended on the form and course of pyelonephritis. With secondary pyelonephritis, its frequency increased to 56% with a predominance of the first degree of severity. When prospectively observed, only in 2 out of 30 girls with acute cystitis, the disease took a chronic course; one of them was diagnosed with connective tissue dysplasia of the I degree of severity. A relapse-free course of pyelonephritis was observed in 54 (68%) children. In 25 (32%) patients with secondary pyelonephritis, the course of the disease was recurring; in this group, connective tissue dysplasia was significantly more frequent and was observed in 23 (92%) of 25 patients.Conclusion. If seven to ten external signs of connective tissue dysplasia are detected in children with pyelonephritis, it is necessary to examine not only the urinary system, but also other systems for complex treatment.

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.

Functional state of the myocardium and criteria for poor prognosis in mitral valve prolapse

Aim. Study of the fnctional state of left ventricular myocardium and determination of diagnostic criteria of poor prognosis of mitral valve prolapse. Methods. 151 patients (116 males and 35 females) with mitral valve prolapse (MVP) were examined. The average age was 34.8 ± 0.79 years. Division by the groups was performed depending on the severity of structural changes of the valve and width of the cusps: group 1 included 54 patients with classic form of MVP (cusp width ≥5 mm), group 2 included 55 patients with cusp width ≥3 mm, group 3 included 42 patients with MV cusp width less than 3 mm. All patients underwent complex clinical functional examination of cardiovascular system. The state of systolic and diastolic cardiac function was assessed using stationary high-tech ultrasound scanner «Philips iE-33» (Philips, Holland) according to conventional technique with determination of standard heart parameters and calculation of intracardiac hemodynamic parameters. Echocardiography was performed on admission and 12 to 18 month later. Results. The study revealed that the most prominent changes of cardiohemodynamics and unfavorable disease course were observed in 72.2 % of patients with classic form of MVP (group 1). Patients with non-classic form of MVP (group 2) also had poor prognosis in 27.8 % of cases. Diagnostic criteria of poor prognosis of MVP according to echocardiography were determined: severe mitral regurgitation (degree ≥III), mitral valve cusp thickness during diastole over 6 mm, left ventricle dilation (EDS ≥ 60 mm; ESS ≥ 36 mm), left atrial dilation (anterior posterior size of LA ≥ 40 mm, LA volume ≥ 80 ml), mitral annulus dilation (diameter of MA ≥ 35 mm). Conclusion. Differences of functional state of the myocardium of left ventricle were revealed depending on the type of mitral valve prolapse caused by the severity of connective tissue dysplasia. In classic form of MVP more severe disorders of intracardiac hemodynamics were observed as well as more severe mitral insufficiency.

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.

Визначення специфічних ознак недиференційованої дисплазії сполучної тканини в пацієнтів на післяопераційну вентральну грижу з обґрунтуванням вибору оптимального способу операційного втручання і типу протеза

Мета дослідження: розпрацювати тактичні передумови та покращити результати хірургічного лікування хворих на післяопераційну вентральну грижу і попередити розвиток рецидиву на основі визначення клінічних ознак недиференційованої дисплазії сполучної тканини з подальшим вибором патогенетично обґрунтованого способу операційного втручання і вибору алотрансплантанта.Матеріали і методи. Проаналізовано результати хірургічного лікування 106 пацієнтів, оперованих з приводу післяопераційної вентральної грижі з імплантацією легких та тяжких поліпропіленових сіток за умов наявної дисплазії сполучної тканини. Вивчали фенотипічні ознаки дисплазії сполучної тканини за міжнародна шкалою M. J. Glesby (1994). Для оцінки стану метаболізму вивчали вміст у сироватці крові оксипроліну. Нормативні величини біохімічних показників отримані при обстеженні 20 практично здорових осіб (контроль), які зіставлені за віком і статтю з обстеженими 106 хворими на післяопераційну вентральну грижу. Вміст кріоглобулінів сироватки крові визначали за методикою Н. А. Константинової та А. Ю. Кірсанова (1989). Для морфологічного дослідження на предмет визначення неспецифічної дисплазії сполучної тканини під час операційного втручання здійснювали забір фрагментів апоневрозу білої лінії живота поряд з грижею. У 5 хворих, яких повторно оперували з іншою патологією органів черевної порожнини, за їхньої згоди, керуючись нормами медичної біоетики, забирали фрагменти передньої черевної стінки з імплантованою тяжкою і легкою сіткою для подальшого морфологічного вивчення.Результати досліджень та їх обговорення. Динаміка зростання колагенолітичної активності рівня глікозаміногліканів та вільного оксипроліну мали прямий кореляційний зв'язок із ступенем тяжкості неспецифічної дисплазії сполучної тканини. Так, при легкому ступені рівень сироваткового оксипроліну становив (54,3 ± 1,1) мкмоль/л, середньому ступені (69,7 ± 1,8) мкмоль/л та важкому ступені (92,5 ± 1,4) мкмоль/л, що практично в 8 разів перевищувало показники норми. Відповідна динаміка до зростання залежно від ступеня вираженості неспецифічної дисплазії сполучної тканини спостерігалась і при визначенні показників глікозамінглікану та кріоглобуліну. Так, у пацієнтів конторольної групи і у пацієнтів з ізольованою грижею показники глікозамінглікану практично не відрізнялись і становили (39,25 ± 0,9) мкмоль/л в сечі і відповідно (41,3 ± 1,1) мкмоль/л в сечі, проте в групі пацієнтів з середньою та важкою формами дисплазії сполучної тканини вони збільшувались у 2–2,5 раза (101,9 ± 1,3) мкмоль/л у сечі. Аналогічне зростання показників кріоглобуліну спостерігали в групах порівняння із зростанням тяжкості дисплазії сполучної тканини. Так, у нормі показники кріоглобуліну становили (40,3 ± 1,2) ум. од., при середньому ступені тяжкості НДСТ (234,8 ± 2,5) ум. од., а при тяжкому (312,3 ± 2,4) ум. од., що практично в шість разів перевищує норму. Морфологічні дослідження довели пріорититети при використанні легкої крупнопористої поліпропіленової сітки Омега-2, що проявлялось у відсутності периваскулярного набряку, формуванні пухкої грануляційної тканини навколо волокон, помірною кількість фібробластів, значною кількістю колагенових волокон, інфільтрованих лімфо- та гістіоцитами.

SIGNIFICANCE OF THE FALSE CHORDS IN THE LEFT VENTRICLE FOR DIAGNOSTIC APPROACHES IN CHILD CONNECTIVE TISSUE DYSPLASIAS

Aim. The study was aimed on the importance evaluation of the false chords (FC) diagnostics in the left ventricle (LV) of the heart at early age to predict connective tissue dysplasia (CTD) development. Material and methods. The study performed at cardiorheumatological department of MAI “CCCH №11” of Yekaterinburg city. Case histories of 200 patients analyzed, of those had undergone treatment in the department last 6 months. Group consisted of children aged 1 month to 17 year old, mean age 9,7±4,6 y. o. Phenotype of CTD was evaluated according to theGent score criteria (2010) and the Score by Kadurina T. I. et al. Heart structure and functioning were assessed with bi-dimensional transthoracic echocardiography. Statistics was done with SPSS Statistics 17.0 and Microsoft Office Excel 2013. Results. All children had phenotype markers of CTD syndrome. Significance assessment of CTD by Kadurina score was 8,1±3,8 (2-33) points, that is grade 1 severity of CTD. In 17% (n=34) of children there was moderate CTD grade, and in 10% (n=20) there were dysplastic changes in ≥3 organ systems. Most of patients (95,5%) had FC (2,0±0,5 U) localized in various areas of the LV. Chords always correlated with phenotypic CTD markers in other physiological systems. And the number of concomitant markers significantly increased with the children’s age. Conclusion. In most cases CTD syndrome is associated with the changes in the heart, and FC inLV can be regarded as easy approachable and most early and reliable phenotypical marker of this systemic disorder.

COMPARATIVE CHARACTREISTICS OF METHODS OF CONNECTIVE TISSUE DYSPLASIA DIAGNOSIS IN CHILDREN

The article compares different authors' methods of diagnosis of connective tissue dysplasia in children on the basis of phenotypic and visceral markers. The benign joint hypermobility syndrome in children of different ages in Tver was diagnosed using the Beighton method: it was detected in 71% of children under 7 years old and in 31.1% of older children. The benign joint hypermobility syndrome is typical of practically all children from 3 to 4 years old and of the majority of children from 5 to 7 years old, which indicates that increased flexibility is a physiologic standard for this age and that the Beighton method does not detect accurately the abnormality of connective tissue in children under 7 years old. 120 children have been examined for presence and severity of connective tissue dysplasia using three different ways at the same time and also using different authors' methods and diagnostic tables. The method of T.I. Cadurina detects presence of connective tissue dysplasia 1.5 times more often than the methods of T. Milkowska-Dimitrova and A. Karkashov. The results when using the method of L.N. Abbakumova are in between. The conclusion of the article shows that diagnosis of connective tissue dysplasia in children cannot be based only on identification of the benign joint hypermobility syndrome, and the methods of diagnosis of connective tissue pathology taking into account not only external but also internal markers are more accurate. Common methods of calculating frequency of connective tissue pathology in children must be applied in all regions of our country.

Персонифицированная оценка риска развития неблагоприятных сердечно-сосудистых проявлений у пациентов молодого возраста с дисплазией соединительной ткани

Adverse cardiovascular manifestations (ACVM) were registered during 7-year follow-up of young patients with undifferentiated connective tissue dysplasia (CTD). ACVM developed in 28.42% of patients. Most frequent ACVMs were extension/aneurysm of the thoracic aorta (10.75%), cerebral vascular syndrome (10.56%), and arrhythmias (9.11%). Most significant risk factors for extension/aneurysm of the aorta were pathology of vertebral arteries, common risk factors (arterial hypertension, alcohol/drugs, smoking, heavy physical work, sports activities), bicuspid aortic valve); for pathology of cerebral vessels--completely open Willis' Circle, pathology of vertebral arteries, CTD related changes of skin and spine, diagnostic CTD coefficient > 23, chronic diseases of veins; clinically significant cardiac rhythm disturbances--combined valve manifestations of CTD, myxomatous degeneration of heart valves, pathology of the aorta, male sex, metabolic changes of the myocardium, deviations of circadian index, predominance of sympathetic tone, and diastolic dysfunction. Analysis of clinical characteristics (age, symptoms and severity of CTD, QTc dispersion ≥ 50 ms) and presence of unfavorable genetic polymorphisms in β1-adrenergic receptor gene (Ser49Gly, rs1801252), transcription factor Sp4 gene (A80807T, rs1011168), genes of matrix metalloproteinases type 3 (5A/6A) and type 9 (8202 A/G) allowed to evaluate overall risk of ACVM.