Signs Of Connective Tissue Dysplasia Research Articles

Characteristics of risk factors and molecular genetic parameters in children with chronic kidney disease

Introduction. Information about the health status of children with nephrological pathology includes many manifestations of functional system disorders. However, early diagnosis of chronic kidney disease (CKD) is rarely carried out due to the lack of reliable predictors of this process.The aim: To analyze the association of anamnestic signs, laboratory and genetic research results with chronic kidney disease in children to identify potential predictors of the disease.Material and Methods. The data were obtained from a single-center retrospective catamnestic cohort study (2011–2022). The main group included 128 children with chronic kidney disease aged 1 to 17 years. The comparison group consisted of 30 children without diagnosed kidney pathology aged from 1 to 17 years. There were no statistically significant differences in sex and age between the two groups. The informative value of more than 150 features, including anamnestic ones, the state of the mother’s health during pregnancy, antenatal and perinatal factors, features of the child’s development and manifestation of the disease, the results of clinical, laboratory, and genetic research methods were evaluated. An integrated approach to the study included methods for hypotheses testing on statistical significance of indicators differences, regression analysis, and ROC analysis.Results. Hereditary burden of nephrological pathology in the family, unfavorable course of pregnancy (anemia, toxicosis of the first half), obstetric and somatic pathology in the mother, the serial number of childbirth are associated with the subsequent development of CKD. Erythrocytes in the urine and daily protein loss were detected only in the group of children with CKD. In this group, a decrease in the number of red blood cells, increased erythrocyte sedimentation rate (ESR), allergies at an early age, otitis media, persistent viral and bacterial infections, and a number of signs of connective tissue dysplasia were more common. The main group statistically significantly differed from the comparison group by a number of polymorphic genetic markers. It can be assumed that the polymorphisms AGT1 Thr174Thr, AGT2 Thr235Thr, NO3 C786T are associated with a predisposition to CKD, and the products of polymorphisms AGT1 Thr174Met, AGT2 Met235Met, R1 AGT2 C1166C, NO3 T786T may have a protective effect according to development of CKD.Conclusion. The risk factors for CKD identified in this study can be used to develop software to support medical decision making for early detection of children at high risk of disease progression.

Spontaneous dissection of the carotid artery in a young patient with the development of ischemic stroke

Carotid artery dissection is a cerebrovascular disease, the cause of which is assumed to be connective tissue dysplasia. The provoking factors may be injury, infections, high-intensity sports. This disease can occur both asymptomatically and manifest itself with various neurological symptoms (headache, Gorner syndrome). In our clinical case, the young patient showed no signs of connective tissue dysplasia, nor provoking factors. Timely diagnosis contributed to the rapid determination of arterial dissection, and early treatment provided stabilization of the patient’s condition and regression of neurological deficit. The literature data on the diagnosis and treatment of the disease are presented.

Spontaneous coronary artery dissection in a young woman with signs of connective tissue dysplasia and hereditary thrombophilia: clinical case

BACKGROUND: Spontaneous coronary artery dissection (SCAD) is a disease that develops unrelated to intracoronary intervention, atherosclerosis, aortic dissection, or mechanical trauma and causes a false lumen (intramural hematoma) in the wall of the coronary artery (CA) with impaired blood flow in it and myocardial ischemia in the affected region of the CA. SCAD most often develops in young and middle-aged adults (aged ≤50 years); among women, it becomes the culprit in 24%–35% of cases of acute myocardial infarction (MI). SCAD is a risk factor for MI, and incorrect interpretation of the angiographic picture and intravascular imaging methods can lead to incorrect tactics of patient behavior.
 CLINICAL CASE DESCRIPTION: This article presents a clinical case of SCAD leading to the development of MI in a young woman with concomitant connective tissue dysplasia and hereditary thrombophilia. The angiographic disease course resembled focal atherosclerosis, and in the course of invasive management, complications had arisen, confirming the probable genesis of coronary artery obstruction.
 CONCLUSION: SCAD is a complex disease, with a sudden onset and an ambiguous prognosis. In most cases, SCAD develops in young women in the absence of cardiovascular factors. It is difficult to diagnose because its signs and symptoms are similar to more common diseases, mainly MI. SCAD can masquerade as focal stenosis on an angiogram, mimicking an atherosclerotic plaque. The «gold standard» for diagnosing SCAD is optical coherence tomography (OCT). OCT enables the visualization of the state of all coronary artery walls and elucidates the pathogenetic mechanisms of MI. If performing OCT is impossible after diagnostic coronary angiography in young patients in suspected cases, the likelihood of DST and SCAD risk must be assessed to avoid errors in choosing treatments. The technical accessibility of intracoronary imaging methods reduces the frequency of diagnostic and, consequently, treatment errors.

Diagnostically significant dysplastic feature identification as a tool for managing connective tissue risks in sports medicine

Aim: to identificate the diagnostically significant signs of connective tissue dysplasia, detection of which will allow adequate sports activity selection, injury prevention and effective rehabilitation.Materials and methods: clinical-somatometric examination of 117 persons aged 18 to 49 years (35.14 ± 5.63 years) with recurrent musculoskeletal injuries occurred during habitual physical training was carried out. Corresponding subgroups were formed by age and gender. Ranked by significance clinic-morphological dysplastic features, identified by T.I. Kadurina and L.N. Abbakumova (2008), were used to assess the mesenchymal tissue state. The control group, comparable to the main group by age and sex, was represented by 36 healthy young people.Results: persons with a predisposition to musculoskeletal injuries have a high dysplastic sign incidence. It was proved that clinically significant of them are moderate to high degree myopia, gothic palate, excessively soft auricles, “crunch” during movements in the temporomandibular joint, pathological spine kyphosis, joint hypermobility, chest deformities, O- and X-shaped legs and varicose lower limbs. Clinically significant markers of connective tissue dysplasia were found to be modified with age and to have characteristic gender features.Conclusions: the study results have particular importance for injury-free physical activity and medical-biological support for sports activities.

Solitary rectal ulcer syndrome in children: a review of the literature and a series of clinical observations

Solitary rectal ulcer syndrome is a rare, polyethiological disorder that occurs mainly in young men and presents a complex of clinical, endoscopic and morphological manifestations. In addition, the widely accepted term ‘solitary ulcer’ itself is often misleading to gastroenterologists and endoscopists. This is because the macroscopic picture does not always correspond to this term and manifestations can vary from a focus of hyperemic mucosa to a giant ulcer, or several ulcers in different parts of the rectum and polypoid stem-like masses. This article summarises the literature on the manifestations of solitary rectal ulcer syndrome in children and presents our own experience in 5 patients. Besides, taking into account that all observed patients had phenotypic signs of connective tissue dysplasia, the assumption concerning the participation of this pathophysiological phenomenon in the pathogenesis of the solitary rectal ulcer syndrome in children was formulated.

Phenotypic signs of connective tissue dysplasia in adolescents

Introduction. Connective tissue dysplasia (СTD) is a group of polymorphic pathological conditions caused by hereditary or congenital defects in collagen synthesis and accompanied by a violation of the functions of the musculoskeletal system and internal organs, which is considered as a factor in the development of pathology of the maxillofacial region in children: dystrophic forms of periodontal diseases; anomalies of shape, size, teething; pathology of the temporomandibularthe mandibular joint. There are diffi culties in determining the pathogenetic relationship between CTD and individual nosological forms of dental diseases, which is important for determining the prognosis of their course and the choice of methods of rehabilitation of children. It is important to improve the methodology of preventive examinations in relation to the early detection of phenotypic signs of CTD, including in the maxillofacial region. Substantiation of the connection of CTD with dental diseases will make it possible to develop examination and medical examination schemes, increase the effectiveness of comprehensive prevention of dental diseases and rehabilitation of adolescents with combined pathology.The aim is to study the incidence of CTD in adolescents and its relationship with dental diseases in order to develop a scheme of examinations and medical examinations, increase the effectiveness of comprehensive prevention of dental diseases and rehabilitation of adolescents with combined pathology.Materials and methods. A survey of 140 male adolescents aged 15–18 years, students of schools in Smolensk was conducted. When examining the somatic status, generally accepted markers of CTD were taken into account: bone (asthenic type of constitution, scoliotic deformity of the spine, hallux valgus, chest deformities), skin (increased skin extensibility of more than 3 cm), articular (hypermobility of joints) and visceral (changes from the cardiovascular system — prolapses of the heart valves, abnormally located chords; changes from the respiratory organs — polycystic lung disease, trachiobronchial dyskinesia; changes from the urinary system — nephroptosis, kidney doubling; changes from the gastrointestinal tract — visceroptosis, gallbladder anomaly; changes from the blood system — thrombocytopathy, hemoglobinopathy). When examining the dental status, the following generally accepted markers of CTD were taken into account: malocclusion (prognathia, deep bite, their combination), narrowing of the dentition, anomalies of the position of individual teeth, anomalies of soft tissue attachment, gum recession, chronic gingivitis. The diagnosis of CTD and the health group was established by a pediatrician on the basis of clinical recommendations and the order of the Ministry of Health of the Russian Federation № 621 dated 30.12.2003 «On a comprehensive assessment of the health status of children». Factor analysis was used to form a set of signs combining signs of CTD and dental diseases.Results. Of the phenotypic signs of СTD, bone and joint changes were diagnosed in 79,3 % (95 % CI 72,6– 86) of adolescents. In second place in frequency 35 % (95 % CI 27,1–42,9) were signs of СTD of the cardiovascular system and the organ of vision (myopia). 40 % (95 % CI 31,9–48,1) of the examined adolescents were diagnosed with chronic gingivitis, gum recession. Deep bite and prognathia were more common than other malocclusions: in 40,7 % (95 % CI 32,6–48,9) and 17,1 % (95 % CI 10,9–23,4), respectively. The use of factor analysis allowed us to identify four most informative factors (the fi rst of them is the most signifi cant) to characterize the relationship between the signs of CTD and its dental manifestations.Conclusion. The incidence of CTD in males in the age group of 15–18 years is 43 %. The most informative prognostic factor was the relationship of tracheobronchial dyskinesia with prognathia, deep bite, narrowing of the jaws, generalized gingivitis. The interrelation of signs of СTD of the cardiovascular system and bone-joint changes with gum recession, chronic gingivitis, prognathia and deep bite was also revealed.

With Phenotypic Signs of Connective Tissue Dysplasia: Cross-Sectional Clinical Study

Background. The dental health is an integral part of a person's well-being. Students of higher educational institutions comprise a health risk group, since they experience extensive physiological changes and personal socialization. The impact of connective tissue dysplasia on dental health is a relevant research task.Objective. To analyze the correlation between dental pathology and phenotypic signs of connective tissue dysplasia in first-year students.Methods. A cross-sectional clinical study of the dental health and phenotypic signs of connective tissue dysplasia was conducted as part of routine dental examination of 263 first-year students of KubSMU, aged 18–23. All participants were divided into 2 groups: group 1 – participants with 0-2 signs of connective tissue dysplasia (n = 108); group 2 – participants with 3 or more signs of dysplasia (n = 155). Statistical analysis of the results was carried out using Microsoft Excel 2010 and Statistica 6.0.Results. Unsatisfactory and poor oral hygiene levels in the group of participants with connective tissue dysplasia outnumber these levels in the control group by 30% and 22%, with very poor level in the second group 2.3 times higher (p ≤ 0.05). The incidence of noncarious tooth pathology in individuals with dysplasia is 26% higher than in the control group. The caries intensity index in group 2 is almost 20% bigger than in the control group. As expected, the group of participants with no signs of dysplasia revealed better periodontal health, namely 51.85% versus 45.81% (p ≤ 0.05). In terms of mucosal pathology, a statistical significant difference between groups 1 and 2 was noted for traumatic injuries (16.35% and 19.35%, respectively). Dentofacial abnormalities were observed more often in individuals with 3 or more phenotypic signs of connective tissue dysplasia.Conclusion. Higher morbidity rate of caries and noncarious pathology in the group of first-year students with 3 or more phenotypic signs of connective tissue dysplasia, compared to the group with 0–2 phenotypic manifestations of dysplasia, indicated the need to create a database of the dentofacial profiles of students, develop an algorithm for regular medical check-up of students, as well as provide differentiated preventive and therapeutic measures for students with dysplasia.

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

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

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

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

Connective tissue dysplasia in children with broncho-obstructive syndrome

BACKGROUND: Changes in the respiratory system in children with connective tissue dysplasia (CTD) have not been studied enough.
 AIM: To study the features of CTD in patients of the pediatric pulmonology department with broncho-obstructive syndrome and chronic inflammation of the bronchi, to assess complaints and the nature of the disease.
 MATERIALS AND METHODS: Patients admitted to the department were evaluated according to the table of diagnostic signs of CTD. 380 children were examined, aged 2 to 17 years 11 months.
 RESULTS: Out of 380 children, the following were identified: with bronchial asthma 309, with obliterating bronchiolitis 18, with bronchiectasis 11, with recurrent bronchitis 42. Three groups were distinguished: 1st patients with CTD (172; 45%), 2nd with increased dysplastic stigmatization (111; 29%), 3rd children without signs of CTD (97; 26%). Most patients admitted to the pulmonology department have signs of CTD or dysplastic stigmatization (74%). Children with CTD often complain of feeling unwell, asthenia, joint pain, they are more likely to have orthopedic pathology. Patients of the 1st group often complain of articular syndrome 19.2%, group 2 13.5%, children without CTD 4.1 % (p 0.001). Complaints about feeling short of breath were presented by 32.6% of patients with CTD, 21.6% with dysplastic stigmatization, and 7.2% in the comparison group (p 0.001). Children with CTD and dysplastic stigmatization more often had chest deformities.
 CONCLUSIONS: Patients with CTD are characterized by asthenic physique, changes in the axial skeleton chest deformities of II and III degrees, scoliotic deformity of the spine of II and III degrees, which may contribute to the development of the pathology of the respiratory system. CTD is a comorbid condition that significantly affects all organs and systems. Timely diagnosis and an integrated approach to these patients are required. Diseases proceed with severe clinical symptoms, require more active examination and aggressive treatment.

Connective tissue dysplasia as a risk factor for adnexal torsion in adolescent girls

the state of somatic and reproductive health of adolescent girls is an actual problem
 both throughout the world and in Ukraine. Connective tissue dysplasia, a group of congenital pathol-ogies of connective tissue with insufficient or abnormal development of collagen structures, which
 leads to disruption of the structure and functional disorders of various organs and tissues, was foundto be widespread among patients of the pubertal period. More often there are undifferentiated forms
 of connective tissue dysplasia, characterized by clinical polymorphism: pathology of the musculo-skeletal system, autonomic dysfunction syndrome, gynecological pathology, among which adnexal
 torsion attracts special attention, and more. The aim of the study was to explore the manifestations ofconnective tissue dysplasia and neurological disorders as risk factors for adnexal torsion, with the aimof improving the clinical and diagnostic approaches to the management of adolescent girls with thisgynecological pathology. Based on informed consent, inclusion and exclusion criteria, 42 adolescentgirls aged 14-17 years old with a history of adnexal torsion (the clinical group) and 30 healthy peers(the control group) took part in the study. To achieve the set goals, anthropometric, general clinical,echographic and radiological methods, the study of the neurological status were used. In the courseof the study, it was found that signs of connective tissue dysplasia were found in 16 (38.1%) of the
 examined adolescents of the clinical group and in 3 (10%) of the control groups (p<0.05). In particu-lar, scoliosis of the I-II degree was diagnosed in 14 (33.3%) adolescents of the clinical group, which
 was more than 3 times higher than the similar indicator in the control group - 3 (10%) (p<0.05). Inaddition, dolichostenomelia and arachnodactyly were observed in adolescents with connective tissuedysplasia, on average, 1.5 times more often. Flat feet was diagnosed 3 times more often in the clinicalgroup (in 13 patients (30.9%)) compared to the control group (in 3 patients (10%)) (p<0.05). At thesame time, some patients had a combination of several pathologies disorders of the musculoskeletal
 system. Thus, scoliosis and flat feet were simultaneously diagnosed in 9 (21.4%) adolescents of theclinical group and only in 2 (6.6%) adolescents in the control group (p<0.05). External developmentalanomalies in connective tissue dysplasia were quite often combined with developmental anomalies ofinternal organs: gallbladder kink was found in 5 (11.9%) patients, nephroptosis - in 2 (4.7%) patients,mitral valve prolapse - in 3 (7.1%) patients of the clinical group, which is associated with the same
 origin and laying of a number of systems in embryogenesis. The surveyed adolescents of the clini-cal group had complaints of an asthenic nature associated with autonomic imbalance, namely: rapid
 heartbeat - in 16 (38.1%), headache - in 12 (28.5%), poor tolerance of moderate physical activity - in7 (16.6%), increased fatigue - in 9 (21.4%) , sweating – in 7 (16.6%) patients. All adolescent girlswere prescribed complex treatment, taking into account the type of autonomic regulation, the severityof clinical and functional disorders that characterize autonomic dysfunction. Thus, as a result of thestudy, a high prevalence of undifferentiated forms of connective tissue dysplasia was established inpatients with a history of adnexal torsion and in most cases was accompanied by the development ofpathology of the musculoskeletal system, structural and functional disorders of the internal organs,and manifestations of autonomic dysfunction syndrome. Connective tissue dysplasia, as one of theestablished predictors of adnexal torsion, can act as an important prognostic marker and providean opportunity to prevent and timely diagnose the abdominal pain syndrome and its complicationscaused by this gynecological pathology.

Сomprehensive restorative treatment of posture disorders in children with connective tissue dysplasia

Aim is to develop a comprehensive program of restorative treatment of posture disorders in children against the background of connective tissue dysplasia. Materials and methods. Ninety children aged from 4 to 17 years were under observation. Of these, 60 patients with connective tissue dysplasia (CTD) were divided into an experimental group (30 children) and a comparison group (30 children). These CTD children were under medical supervision from 2010 to 2020. The reference group consisted of 30 conditionally healthy children of the same age. All children were comprehensively examined. All СTD patients during the entire period of dispensary observation underwent comprehensive restorative treatment using methods of physical therapy, swimming and teaching patients at the educational school “Posture Correction” for children. The data obtained were processed statistically. Results. Characteristic signs of hereditary disorders of connective tissue development were revealed in all CTD children. An increase in the concentration of oxyproline in the blood serum and an increase in urinary excretion of oxyproline and calcium were found. After 5 years from the start of rehabilitation measures, there was an increase in endurance of the back muscles, a minimum number of pathological manifestations, including arthritis, arthralgic syndromes, coccygodynia. Ten years later, at the age of 14 years, the children of the experimental group formed a good posture, a well-off muscular corset and a minimal number of complications. Patients of the comparison group during the observation process more often complained of a feeling of fatigue, prolonged, incurable pain in the thoracic and lumbar spine, weak muscle corset. Conclusion. If CTD signs are detected in children, long-term dispensary observation should be carried out in outpatient conditions with the inclusion of a set of exercises of physical therapy and other rehabilitation measures. With the initial CTD manifestations on the part of the spine, children should be recommended to use a back support or a semi-rigid corset for the duration of increased loads, lessons, and long training sessions.

Predictive value of dysplastic-dependent phenotypic and visceral manifestations in gastroesophageal refl ux disease associated with duodenogastroesophageal reflux

Purpose of the study : to identify and evaluate the prognostic role of phenotypic and visceral stigmas of connective tissue dysplasia in the formation of gastroesophageal refl ux disease (GERD) associated with duodenogastroesophageal refl ux (DHER). Materials and methods . In an analytical one-stage study 129 (42 men and 87 women) patients with GERD associated with DHER (GERD-DHER), verifi ed by the presence of refl ux esophagitis and the data of esophageal pH-metry, were examined to diagnose the presence / absence of a dysplastic- dependent phenotype and visceral signs of connective tissue dysplasia. Results . In the adult population of GERD-DHER patients, phenotypic and visceral manifestations of connective tissue dysplasia occur in 45,7% of cases. The chance of developing the disease in persons with a dysplastic- dependent phenotype in the presence of a hiatal hernia increases by 3,7 times, with a combination of a hiatal hernia and anomalies in the shape of the gallbladder — 4,3 times; in the presence of cardia insuffi ciency, anomalies in the shape of the gallbladder and their combination — by 1,4–1,6 times.

The state of blood flow of the main arteries of the head in children with neurocirculatory dysfunction and connective tissue dysplasia

BACKGROUND: The article studies the relationship between connective tissue dysplasia and neurocirculatory dysfunction. They are united by a systematic and multi-organ nature of complaints and violations. The frequency of occurrence of neurocirculatory dysfunction in connective tissue dysplasia depends on the severity of phenotypic signs and is 23.531.1%.
 AIM: The aim of this study is to evaluate the significance of the method of duplex scanning of the main cerebral vessels, as well as to evaluate the relationship of the obtained parameters with the data of neurosonography, radiography of the cervical spine in children with signs of neurocirculatory dysfunction and connective tissue dysplasia.
 MATERIALS AND METHODS: The duplex scanning method was used to study the main vessels of the neck that provide blood supply to the brain: common and internal carotid, vertebral arteries in 240 children hospitalized for somatic various diseases.
 RESULTS: The presence of diagnostically significant changes in the cervical spine was found in 111 of them (46.3%): hypoplasia of the CI or СII vertebrae with cranial subluxations, instability of the cervical spine, and juvenile osteochondrosis. In children diagnosed with neurocirculatory dysfunction without signs of connective tissue dysplasia, disturbances in the form of asymmetry of blood flow along the entire vertebral artery prevail in comparison with the comparison group. In patients with more pronounced signs of connective tissue dysplasia, structural features of the cervical spine (hypoplasia of the CI or СII vertebrae with cranial subluxations, instability, juvenile osteochondrosis) and impaired blood flow of the main arteries are significantly more common.
 CONCLUSIONS: According to the data of duplex scanning of the main arteries of the neck, disorders in the form of hemodynamically significant asymmetry of blood flow in the vertebral arteries at different levels are significantly more common. In patients with pronounced signs of connective tissue dysplasia, structural features of the cervical spine and impaired blood flow of the main arteries of the neck are significantly more common. The presence of connective tissue dysplasia may be one of the causes of the above disorders.

Clinical and laboratory features of the new coronavirus infection COVID-19 in patients with connective tissue dysplasia

Introduction. Connective tissue is ubiquitous in the human body, hereditary connective tissue disorders affect several systems and organs, undifferentiated connective tissue dysplasia is often not diagnosed, proceeds under the guise of another pathology, and the pathogenetic basis of COVID-19 is a systemic disease associated with vascular inflammation and endothelial damage. The goal is to study the clinical and laboratory features of a new coronavirus infection in patients with connective tissue dysplasia.Materials and methods. The study included 117 patients diagnosed with a new coronavirus infection COVID-19 aged 35 to 65 years, hospitalized in an infectious diseases hospital City Clinical Hospital No. 40 in Ekaterinburg. The patients were divided into 2 groups: the main group (n=90) people with the stigmas of connective tissue dysplasia and the comparison group: (n=27) people without signs of connective tissue dysplasia. Inclusion criteria: the presence of stigma of connective tissue dysplasia, the presence of a confirmed infection with COVID-19 (PCR of nasopharyngeal and oropharyngeal swabs for SARS-CoV-2). Exclusion criteria: age over 65, comorbidities: diseases of the musculoskeletal system, chronic kidney disease, pregnancy, HIV infection, oncohematological and lymphoproliferative diseases.Results. The course of a new coronavirus infection against the background of connective tissue dysplasia is characterized by: 1) fever in 100% of patients; 2) damage to the lungs of more than 50% of the lung tissue with signs of respiratory failure in 63%; 3) a pronounced systemic inflammatory response syndrome, manifested by a significant increase in C-reactive protein and creatine phosphokinase.Discussion. An analysis of the results showed that one of the predictors of the severity of the course of COVID-19 infection may be the presence of connective tissue markers of dysplasia (odds ratio 7.4, 95% CI 2.6-21.3).Conclusion. The new coronavirus infection COVID-19 proceeds against the background of connective tissue dysplasia more severely with a pronounced intoxication syndrome with an early and longer manifestation of acute respiratory failure.

Особливості перебігу артеріальної гіпертензії, поєднаної з дисплазією сполучної тканини, у практиці сімейного лікаря

Актуальність. Поєднання артеріальної гіпертензії (АГ) та дисплазії сполучної тканини (ДСТ) є одним із недостатньо вивчених питань. ДСТ супроводжується порушеннями структури та функції судин, сприяє розвитку раннього атеросклерозу та серцево-судинних ускладнень. У хворих на АГ, поєднану з ДСТ, часто зустрічаються порушення ритму та провідності серця, значно поширені зміни з боку органів зору, внутрішніх органів та кістково-суглобової системи. Мета. Покращити діагностику та лікування АГ, поєднаної з ДСТ, на основі вивчення клінічного перебігу, вираженості зовнішніх і внутрішніх симптомів ДСТ, ліпідного спектра крові, гострофазових показників, сечової кислоти та інструментальних методів обстеження. Матеріали та методи. Проведено клінічне дослідження, в яке включено 75 хворих на АГ ІІ стадії 1–3-го ступеня з проявами ДСТ, середній вік яких становив 63,5 ± 4,2 року, які перебували на стаціонарному лікуванні в кардіологічному відділенні Комунальної міської клінічної лікарні швидкої медичної допомоги м. Львова. Методи дослідження включали клінічні (огляд, пальпація, перкусія, аускультація), лабораторні (ліпідний спектр крові, С-реактивний протеїн, серомукоїди та сечова кислота), інструментальні (електрокардіографія, ехокардіографія, добове моніторування артеріального тиску, езофагогастродуоденоскопія, ультразвукове дослідження (УЗД) внутрішніх органів і судин нижніх кінцівок, УЗ-дуплексне обстеження сонних і хребтових артерій, рентгенологічне дослідження кістково-суглобової системи), консультації офтальмолога, невропатолога, травматолога, стоматолога. Діагностика недиференційованої ДСТ визначалася за методикою Т.М. Кадуріної та співавт. (2009). Розрахунок діагностичного коефіцієнта для кожної ознаки дисплазії проводили за методикою, розробленою В.М. Яковлевим та співавт. (2008). Пацієнти були розподілені на 3 групи:1-ша група — 12 пацієнтів з АГ II стадії 1-го ступеня, 2-га група — 26 пацієнтів з АГ II стадії 2-го ступеня, 3-тя група — 30 пацієнтів з АГ II стадії 3-го ступеня. Контрольна група — 7 пацієнтів з АГ ІІ стадії 1–3-го ступеня без проявів ДСТ. Результати. При порівняльному аналізі хворих з АГ у 90,67 % спостерігався ряд зовнішніх і внутрішніх симптомів дисплазії сполучної тканини, у 9,33 % були відсутні прояви ДСТ. У 3-й групі хворих спостерігали більше зовнішніх і внутрішніх фенотипових ознак ДСТ та їх вираженість порівняно з 1-ю та 2-ю групами, що прогнозує тяжкість клінічного перебігу захворювання. Висновки. У хворих на АГ спостерігається значне поширення ДСТ: чим більше ознак ДСТ, тим тяжчий клінічний перебіг гіпертонії. У хворих з АГ, поєднаною з ДСТ, поширені зміни з боку серцево-судинної системи, органів зору, внутрішніх органів та кістково-суглобової системи порівняно з групою хворих без ДСТ. При порівнянні групи хворих з АГ і наявністю ДСТ відмічаються вищі показники активності запального процесу та ліпідного спектра крові, ніж у хворих без ДСТ. Своєчасне виявлення АГ, поєднаної з ДСТ, систематичний диспансерний нагляд за хворими, проведення комплексу заходів, спрямованих на покращення структури та функції сполучної тканини, корекція імунодефіциту дозволяють покращити результати перебігу даної патології.

Клинические особенности течения беременности у женщин с рубцом на матке при дисплазии соединительной ткани

The purpose was to study the course of pregnancy in women with a scar on the uterus after cesarean section (CS) in women with and without signs of connective tissue dysplasia (CTD). Material and methods. The study included 130 pregnant women who applied for planned delivery. According to the results of examination, anamnesis collection, questionnaires and general clinical examination, the patients were divided into two groups, depending on the presence of nCTD signs of: group 1 (main) — 100 patients, with the severity of nCTD signs at least 6 points according to the classification of T.I. Kadurina, and group 2 (comparison) — 30 healthy women without CTD signs. Anamnestic data, peculiarities of the course of pregnancy, cesarean section operations were studied, ultrasound and histological examinations of scars on the uterus were carried out. Results. Complicated pregnancy was detected in half of the cases in the first group, and in 23.3% in the second group. According to ultrasound data before delivery, signs of inferiority in the form of thinning of the uterine scar to 1.7 (0.9) mm were detected in the first group in 41 patients (41%), in the second group the thickness of the scar was up to 4.1 (1.15) mm in 13 people (43.3%), in the remaining 17 women (56.7%) the thickness of the scar it was up to 3.2 (1.8) mm. Histological studies showed differences in the content of connective tissue and vascularization in the structure of the scar in women of the studied groups.

ГЕНЕТИЧЕСКИЕ ОСНОВЫ РАЗВИТИЯ ДИСПЛАЗИЙ СОЕДИНИТЕЛЬНЫХ ТКАНЕЙ И РАСПРОСТРАНЁННОСТЬ ИХ ФЕНОТИПИЧЕСКИХ ПРИЗНАКОВ СРЕДИ ЧЛЕНОВ СБОРНЫХ КОМАНД РОССИИ

Phenotypic signs of connective tissue dysplasia are widely represented among the population. It is believed that the incidence of dysplasia among athletes is much higher than in the population, since changes in connective tissues lead to the formation of special anthropometric characteristics and predisposition to certain physical qualities, for example, fl exibility. However, the role of the genes responsible for the development of non-syndromic connective tissue dysplasia remains unclear. Also debatable is the question of the relationship between the presence of phenotypic signs of dysplasia and the development of complications from the cardiovascular system that occur under the infl uence of intense physical activity.

Cardiac and Visceral Signs of Connective Tissue Dysplasia in Children with Juvenile Rheumatoid Arthritis According to Ultrasound Examination Data

To study the cardiac and visceral signs of connective tissue dysplasia in children with juvenile rheumatoid arthritis, a comprehensive ultrasound examination of the abdominal cavity organs and echocardiography examination were conducted according to the standard protocol in 52 children aged from 5 to 16 years with the diagnosis of juvenile rheumatoid arthritis. The reference group consisted of 26 patients with autonomic dysfunction (vegetative-vascular dystonia). The incidence of such visceral dysplasia types as duodenogastric reflux, gastroesophageal reflux, and gallbladder malformations among children with juvenile rheumatoid arthritis was shown higher than in the reference group. The main cardiac sign of connective tissue dysplasia in patients with juvenile rheumatoid arthritis are an excessive chord of the left ventricle.

Indices of connective tissue metabolism, their interconnection in patients with 5D stage chronic kidney disease and in patients with anterior abdominal wall hernias

Objective. To study the interconnection between the indices of matrix metalloproteinases (MMPs) of type I collagen terminal telopeptides in patients with end-stage chronic kidney disease (CKD) and in patients with anterior abdominal wall hearnias.Materials and methods. 39 patients with CKD stage 5D, 24 patients with primary anterior abdominal wall hernias and 25 patients of the comparison group without visual signs of connective tissue dysplasia were included into the prospective study. The concentrations of the levels of MMP-1, MMP-2, MMP-9, tissue inhibitor of metalloproteinase 1 (TIMP-1), TIMP-3, N-terminal telopeptide NTX-N, C-terminal telopeptide CTX-C were determined in plasma using the enzyme immunoassay (ELISA).Results. The end-stage patients with CKD and the patients with anterior abdominal wall hernias showed no statistically signifcant biochemical indices of ongoing bone tissue destruction based on the levels of terminal telopeptides NTX-N and CTX-C. There are statistically signifcant increases in the levels of MMP-1, MMP-2, MMP-9 (p ˂ 0.001) in the CKD stage 5D patients and major TIMP-1 and TIMP-3 (p ˂ 0.001) in relation to the comparison group. These indices were comparable with the changes in the connective tissue of the patients with primary anterior abdominal wall hernias.Conclusion. The obtained results indicate disturbances in the regulation of the synthesis and structural relationships of connective tissue in CKD stage 5D patients and in patients with primary anterior abdominal wall hernias. CKD stage 5D patients and primary anterior abdominal wall hernias reveal identical direct correlations in the indices of connective tissue metabolism according to NTX-N, MMP-1 and MMP-9, TIMP-1, which indicates similar disturbances in the regulation of the synthesis and structural disorders in connective tissue.