Signs Of Connective Tissue Dysplasia Research Articles

Differential approach to planning of training loads in person with connective tissue dysplasia symptoms

Introduction. When dealing with issues of access and planning of training and competitive pressures special interest cause the person with signs of connective tissue dysplasia.Aim. Improvement of medical support of training process of athletes with signs of connective tissue dysplasia.Materials and methods. 188 athletes are examined, including 59 with signs of connective tissue dysplasia. There are made the basic group. Signs of systemic involvement of connective tissue are determined using anthropometry and somatoscopy. An echocardiographic examination is conducted for all athletes at rest and during bicycle ergometry in regenerative period conducted.Results. Underweight body, acromacria, hypermobility of joints and flat feet are often observed with signs of systemic involvement of connective tissue.During veloergometry it was established deterioration of myocardial relaxation during diastole core group of athletes while performing load average power, which led to a drop in ejection fraction at submaximal levels of exertion.Conclusions. Existence of connective tissue dysplasia in athletes with different prognosis states requires sports physicians an in-depth analysis and differential diagnosis of clinical forms in order to prevent complications during training and competitive pressures. Early signs of cardiac strain while performing physical activity in athletes with signs of connective tissue dysplasia were symptoms of myocardial relaxation on indicators of diastolic heart function. Ejection fraction at rest remained at normal levels

THE VISUAL SIGNS OF CONNECTIVE TISSUE DYSPLASIA IN PATIETS WITH INGUINAL AND FEMORAL HERNIA

The frequency of the visual signs of connective tissue dysplasia (CTD) in patients with inguinal and femoral hernia has been analyzed. More than 30 % of patients with inguinal hernia have symptoms of CTD. The spine and feet are affected most often than other organs.

Risk factors and characteristics of lesions of the cardiovascular system in young aged patients with psoriasis (547.2)

To study lipid metabolism,as well as the identification of risk factors,the characteristics of the cardiovascular system lesions in young aged patients with psoriasis.It was found in clinical and epidemiological study that among patients with psoriasis most men were ‐ 61.1%, women ‐ 38.9%. Mean age ‐ 46,4±2,3years. In the study of the spectrum the concomitant somatic pathology in adult patients 61.3% was identified with underlying diseases. In patients with severe psoriasis concomitant diseases were observed in 78.4% of patients, that is 1.3 times higher than in patients with psoriasis vulgaris and exudative. Lipid profile were as follows: hypercholesterolemia was diagnosed in 39.5% patients,74.4% patients, LDL cholesterol was above normal. Values of triglycerides (TG) averaged 1,82±0,15 mmol/l. In carrying out the cluster analysis between lipid profile and the main clinical and laboratory parameters in patients with psoriasis, revealed strong correlation rates (p<0.001) HDL with disease duration (r=‐0,95),with the affected area (r=‐0,83).In a study of the cardiovascular system in patients with psoriasis most often ‐ in 70% of cases met various cardiac arrhythmias. Signs of connective tissue dysplasia, namely, small malformations of the heart were detected in 25.6% patients. Hypertension was diagnosed in 9.3%, signs of peripheral atherosclerosis‐6.9% of the patients, ischemic heart disease‐4.7%.

PREDICTING THE NATURAL HISTORY OF CONGENITAL SPINAL DEFORMITY IN CHILDREN

Objective. To identify prognostic criteria of congenital spinal deformity progression in children on the basis of clinical and anamnestic data, X-ray, biochemical and molecular genetic studies. Material and Methods. The study included 154 patients (91 girls, 63 boys) aged 6 months to 18 years with congenital spinal deformities associated with improper vertebra formation, fusion or segmentation, and combined anomalies of the spine. They underwent clinical examination with assessment of orthopedic and neurologic status, X-ray examination of the spine, and their anamneses and family histories were investigated. Special attention paid to identify the signs of connective tissue dysplasia of various organs and systems. Results. Multivariate analysis applying the method of statusmetry showed that high levels of osteocalcin and vitamin D, and TT genotype of -1997G/T polymorphism in the COL1A1gene are more common in children with a stable course of congenital spinal deformity, then in children with progressive deformity, who have higher level of P1NP (amino-terminal propeptide of type I procollagen) and more systems involved in the dysplastic process. Conclusion. Predictive model for progression of congenital spinal deformity was developed, and a group of children at risk of spinal curvature progression associated with vertebral anomalies was identified.

Ultrasound characteristics of changes non-inflammatory origin in the knee joints of adolescents

In order to study the state of articular structures, the knee joints of adolescents with complaints about persistent arthralgia and without any clinical signs of gonitis were examined with use of ultrasound. The article contains results of examination of 299 people (the basic group), 96 cases with signs of connective tissue dysplasia without joint syndrome (the comparison group) and 100 clinically healthy adolescents (the control group). The basic group revealed a lower altitude and a less degree of destruction of the articular cartilage, signs of an inflammatory process and irregular bone surfaces. Changes in the knee joint structure make it possible to believe that the morphological disturbances, observed in adolescents, agree with the concept of the formation of degenerative processes in adults.

Spontaneous pheumothorax and connective tissue dysplasia: molecular and genetic analysis

Summary. To evaluate a role of polymorphic variants of alpha1-antitrypsin (AAT) genes and matrix metalloproteinase (MMP) genes for heritable susceptibility to bullous emphysema and primary spontaneous pneumothorax (PSP) in patients with connective tissue dysplasia (CTD), we analyzed polymorphic loci of PIZ (Glu342Lys), PIS (Glu264Val), MMP1 (1607insG), MMP9 (C-1562T), MMP12 (A-82G), and TIMP1 (С536Т) genes and studied serum AAT concentration. We did not find any significant difference between prevalence of the Z- and S-mutations of PI gene and serum AAT concentration between groups. MMP1 homozygous GG/GG genotype was associated with risk of PSP development (odds ratio (OR), 2.23; 95 % confidence interval (СI): 1.34–3.73), MMP1 GG allele (OR, 2.27; 95 % CI: 1.61–3.20), MMP9 heterozigous С/Т genotype (OR, 2.43; 95%CI: 1.37–4.31), MMP9 homozygous Т/Т genotype (OR, 4.38; 95 % CI: 1.12–20.00), MMP9 T allele (OR, 2.78; 95 % CI: 1.74–4.46). All alleles and genotypes were found significantly more often in patients with signs of CTD. No statistically significant difference for any polymorphic locus of the studied genes was seen between prevalence of allele variants in patients with PSP but not having CTD and in population sample.

ROLE OF UNDIFFERENTIATED DYSPLASIA OF THE CONNECTIVE TISSUE IN THE DEVELOPMENT OF SPINE PATHOLOGY COMBINED WITH JUVENILE GLAUCOMA AND MYOPIA

Objective. To study the influence of connective tissue dysplasia on the development of spine pathology, cardiovascular system, primary juvenile glaucoma, and myopia basing on a multimodal orthopaedic, pathomorphological, and ophthalmological examination for optimization of diagnosis and treatment. Material and Methods. The multimodal examination of 50 patients with spine pathology combined with a primary juvenile glaucoma and acquired progressing myopia was performed. All patients passed through ophthalmologic, clinical-genealogical, orthopaedic, and cardiologic examination, with biochemical and pathomorphological investigation of surgical specimens. Spine pathology was assessed by a computer optical topography method. Results. Connective tissue dysplasia in patients with spine pathology is associated with ophthalmopathology and anomalies of cardiac valve and notochord. Structural metabolic changes of connective-tissue components of juxtacanalicular zone and sclera cause degenerative-dystrophic process accompanied by a dysfunction of eye drainage system synchronized with optic atrophy. Conclusion. Patients with spine pathology, with outer and innate phenotypic signs of connective tissue dysplasia should be referred to diagnostic ophthalmologic examination for detection and early treatment of acquired myopia and primary juvenile glaucoma.

Spine pathology and phenotypic signs of connective tissue dysplasia in primary juvenile glaucoma

Objective. To reveal the spine pathology and phenotypic markers of nondifferentiated connective tissue dysplasia (DCT) syndrome, and to determine their severity level in patients with a primary juvenile glaucoma and myopia. Material and Мethods. A total of 50 patients at the age of 12 to 32 years (23 male, 27 female) with a primary juvenile glaucoma in 43 cases associated with different grades of myopia were examined. Examination in all cases included ophthalmologic and clinical study with a complex assessment of outer phenotypic markers. Spine pathology was revealed by the method of computer optical topography. Results. Phenotipic signs of connective tissue dysplasia were detected in patients with a primary juvenile glaucoma and myopia. These signs included such spinal pathologies, as flat back, scoliosis, functional instability of the cervical spine, as well as platypodia and skin changes. Grade I of connective tissue dysplasia was observed in 16 % of cases, grade II – in 80 %, and grade III – in 4 %. Conclusion. The presence of connective tissue dysplasia results in the development of myopia and primary juvenile glaucoma, and determines the progression of disease.