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

2019 ◽  
Vol 21 (4) ◽  
pp. 203-207 ◽  
Author(s):  
Anastasia V. Goryainova ◽  
P. V. Shumilov ◽  
S. Yu. Semykin ◽  
G. Yu. Zobkova ◽  
A. E. Donnikov
Keyword(s):  
Cystic Fibrosis ◽  
Connective Tissue ◽  
Matrix Metalloproteinase ◽  
Clinical Signs ◽  
Respiratory Disorders ◽  
Matrix Metalloproteinase 3 ◽  
Genetic Features ◽  
Connective Tissue Dysplasia ◽  
Modifying Effect ◽  
Severe Pathology

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.

scholarly journals CARDIAL MANIFESTATIONS OF NON-DIFFERENTIATED CONNECTIVE TISSUE DYSPLASIA AND THEIR INFLUENCE ON PREGNANCY

2021 ◽  
pp. 14-22
Author(s):  
V. Yu. DOBRIANSKA ◽  
S. M. HERYAK ◽  
L. M. MALANCHUK ◽  
M. I. SHVED ◽  
I. V. KORDA
Keyword(s):  
Mitral Valve ◽  
Connective Tissue ◽  
Ventricular Arrhythmia ◽  
Pregnant Women ◽  
Mitral Valve Prolapse ◽  
Clinical Signs ◽  
Clinical Manifestations ◽  
Adequate Treatment ◽  
Pregnancy And Childbirth ◽  
Connective Tissue Dysplasia

Among the visceral manifestations of NDST in pregnant women most often diagnosed mitral valve prolapse (20-25%) that accompanied by more cardiovascular and obstetric complications during pregnancy. It demonstrates the high clinical significance of the problem of connective tissue dysplasia with mitral valve prolaps for pregnancy and requires adequate treatment programs for prevention of complications and management of pregnant women with connective tissue dysplasia. Aim. Determination of the frequency of pregnancy pathology in women with clinical signs of NDST and MVP complicated by extrasystolic arrhythmia. Materials and methods. 138 pregnant women with MVP and concomitant signs of NDST and 54 healthy pregnant women were selected for analysis. Clinical manifestations of NDST, different variants of arrhythmias and the total number of complications of pregnancy and childbirth were evaluated. Results. In pregnant women with clinical signs of NDST and MVP complicated by extrasystolic arrhythmia, cases of frequent sinus extrasystole were significantly more often compared to frequent ventricular arrhythmia (47.8% vs. 18.1%, p<0.001) and cases of combination of frequent sinus extrasystole and ventricular arrhythmia (13.3 % vs. 1.5%, p <0.05). They significantly more often identified both symptoms of arrhythmological nature and symptoms that indicated a violation of autonomic status. The presence of NDST syndrome is more often accompanied by the development of complications of pregnancy and childbirth. These pregnant women have genetic and phenotypic risk factors for the development of pathological pregnancy and childbirth, birth trauma, disability of mother and newborn, which justifies such patients in a separate risk group for individualized programs of the prevention and treatment of visceral (cardiac) manifestations of NDST and possible complications of pregnancy and childbirth. Conclusions. 3.1% of pregnant women are diagnosed with phenotypic signs (stigma) of undifferentiated connective tissue dysplasia, and the most common visceral cardiac manifestation is mitral valve prolapse. The presence of mitral valve prolapse and extrasystolic arrhythmia in pregnant women with NDST is accompanied by significantly more frequent development of pregnancy and childbirth complications in these patients.

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

2019 ◽  
Vol 12 (3) ◽  
pp. 152-157
Author(s):  
Radu Railianu
Keyword(s):  
Connective Tissue ◽  
Abdominal Wall ◽  
Anterior Abdominal Wall ◽  
Clinical Signs ◽  
Clinical Severity ◽  
Abdominal Muscles ◽  
Abdominal Hernias ◽  
Connective Tissue Dysplasia ◽  
Optimal Rehabilitation ◽  
Relaxing Effect

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.

scholarly journals Assessment of cerebral blood flow in children with myopia in combination with undifferentiated connective tissue dysplasia

2021 ◽  
Vol 9 (2) ◽  
pp. 10-13
Author(s):  
T.V. Frolova
Keyword(s):  
Blood Flow ◽  
Cerebral Blood Flow ◽  
Connective Tissue ◽  
Clinical Signs ◽  
Joint Hypermobility ◽  
Visual Analyzer ◽  
Elastic Parameters ◽  
Beighton Score ◽  
Connective Tissue Dysplasia ◽  
Progressive Myopia

Background. In practice, patients with numerous undifferentiated forms of connective tissue dysplasia are more common. With regard to the combination of myopia and undifferentiated connective tissue dysplasia, one of the links in the mechanism of origin of this refractive anomaly is decreased thickness of the sclera and a change in its elastic parameters. Myopia in children often occurs against the background of impaired blood supply to the visual analyzer associated with circulatory pathology in the vertebral vessels. The purpose was to evaluate cerebral blood flow in patients with myopia in combination with undifferentiated connective tissue dysplasia. Materials and methods. The study involved 86 children (170 eyes) diagnosed with progressive myopia. All patients were consulted by related specialists to detect undifferentiated connective tissue dysplasia and underwent a complete ophthalmological exa-mination. The diagnostic coefficient of expression of phenotypic and clinical signs of undifferentiated connective tissue dysplasia was also determined using the expert table of T. Kadurina. Results. Phenotypic and clinical signs of undifferentiated connective tissue dysplasia were noted in 41 (100 %) cases when evaluating according to the criteria of T. Mil-kovskaya-Dimitrova and T. Kadurina, and in 34 (83.0 %) children du-ring screening for joint hypermobility on Beighton score. As for increased axial length of the eye in the examined patients with myopia and undifferentiated connective tissue dysplasia, it was noted that an increase had a direct correlation with the severity of undifferentiated connective tissue dysplasia, with the greatest correlation obtained in children with pronounced phenotypic manifestations in the musculoskeletal system (correlation coefficient was 0.83). Chemical regulation of carotid artery tone (respiratory failure test) is altered in the vast majority of patients with myopia. Conclusions. All children with progressive myopia are re-commended to be examined by related specialists to identify undif-ferentiated connective tissue dysplasia and hemodynamic disorders. Only a comprehensive approach to this refractive anomaly can be effective in combating its progression.

scholarly journals THE ROLE OF CONNECTIVE TISSUE DYSPLASIA IN CHILDREN’S CYSTIC FIBROSIS. CLINICAL AND GENETIC ASPECTS

2018 ◽  
Vol 63 (5) ◽  
pp. 20-28
Author(s):  
A. V. Goryainova ◽  
P. V. Shumilov ◽  
N. Yu. Kashirskaya ◽  
S. Yu. Semykin
Keyword(s):  
Cystic Fibrosis ◽  
Liver Fibrosis ◽  
Connective Tissue ◽  
Autosomal Recessive ◽  
Autosomal Recessive Disease ◽  
Clinical Manifestations ◽  
History Of ◽  
Connective Tissue Dysplasia ◽  
Severe Fibrosis

The article considers the issue of cystic fibrosis – a monogenic autosomal recessive disease. It describes the history of the CFTR gene discovery, the further search for modifier genes to explain the variability of the clinical manifestations of cystic fibrosis. The review discusses problems of connective tissue dysplasia and somatic pathology, which is formed due to the connective tissue dysmorphogenesis in patients with cystic fibrosis; and also the article contains justification for the connection between the formation of severe fibrosis of the lungs and liver and the presence of clinical and genetic markers of connective tissue dysplasia. The author assumes that the clinical and genetic polymorphisms of connective tissue influence the course of cystic fibrosis, formation of bronchiectasis, interstitial pneumofibrosis, cystic fibrosis dysplasia, liver fibrosis and cirrhosis.

scholarly journals Connective tissue dysplasia in the genesis of cervical incompetence

2021 ◽  
Vol 15 (1) ◽  
pp. 41-50
Author(s):  
E. V. Fotina ◽  
R. R. Zakirova ◽  
M. V. Alekseenkova ◽  
O. B. Panina
Keyword(s):  
Connective Tissue ◽  
Preterm Labor ◽  
Clinical Signs ◽  
Pregnancy And Childbirth ◽  
Cervical Incompetence ◽  
Connective Tissue Dysplasia ◽  
Group 3 ◽  
Group 2 ◽  
Group 1

Aim: to study a role of undifferentiated connective tissue dysplasia (uCTD) in etiology of cervical incompetence and its effect on pregnancy and childbirth course.Material and Methods. There were enrolled 60 patients with cervical incompetence. Patients were divided into 3 groups according to the modified CTD scale: group 1 - patients without uCTD (n = 21); group 2 - patients with mild uCTD (n = 25); group 3 - patients with moderate-to-severe uCTD (n = 14). Intensity of CTD clinical signs was assessed based on health status, gynecological and obstetric history, the course of pregnancy, labor and the postpartum period.Results. It was found that patients with more prominent CTD developed earlier (r-Spearman = -0.26) and more marked (r-Spearman = -0.29) cervical shortening and opening of the internal orifice of the uterus (r-Spearman = 0.28). It was also noted that likelihood of occurring preterm labor was significantly higher in patients with CTD (p = 0.02).Conclusion. The data obtained evidence that uCTD affects intensity of manifested cervical insufficiency and rate of preterm delivery.

The importance of matrix metalloproteinase-3 in respiratory disorders

2014 ◽  
Vol 8 (4) ◽  
pp. 411-421 ◽  
Author(s):  
Cory M Yamashita ◽  
Derek C Radisky ◽  
Yael Aschner ◽  
Gregory P Downey
Keyword(s):  
Matrix Metalloproteinase ◽  
Respiratory Disorders ◽  
Matrix Metalloproteinase 3

scholarly journals UNIFFERENTIATED CONNECTIVE TISSUE DYSPLASIA AS A POTENTIAL PREDICTOR OF ARTERIAL HYPERTENSION DEVELOPMENT IN PATIENTS WITH TYPE 2 DIABETES MELLITUS

2018 ◽  
Keyword(s):  
Diabetes Mellitus ◽  
Type 2 Diabetes ◽  
Connective Tissue ◽  
Arterial Hypertension ◽  
Regression Model ◽  
Clinical Signs ◽  
Duration Of Diabetes ◽  
Connective Tissue Dysplasia ◽  
Dm Type 2

The article presents the results of studies of markers of connective tissue dysplasia and the content of the main fibroblast growth factor in blood plasma in patients with type 2 diabetes. The presence of significant correlations between the studied parameters with the occurrence and progression of hypertension in patients with type 2 diabetes is established. A regression model for predicting the development of arterial hypertension is proposed in patients with diabetes mellitus. The development of hypertension in patients with DM type 2 in combination with UCTD occurs earlier, is almost independent of the duration of diabetes, more pronounced hypertension is observed in patients with visceral and skeletal symptoms of UCTD. This is evidence of the role of UCTD in the pathogenesis of hypertension in patients with type 2 diabetes. Essential role in the emergence and progression of hypertension in patients with DM type 2 is played by metabolic disorders of the connective tissue that manifests as clinical signs of UCTD. FGF2, which content is increased in patients with visceral and/or skeletal symptoms of UCTD, is involved in its pathogenesis. The regression model of the prediction of hypertension in patients with DM type 2 with an assessment of the presence of UCTD signs and the duration of diabetes has a high prognosticity, specificity and sensitivity, which makes it possible to apply this method in clinical practice to determine patients with high risk of development of hypertension.

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