Научная статья на тему 'Manifestations of genetically determined conditions depending on the degrees of exogamy'

Manifestations of genetically determined conditions depending on the degrees of exogamy Текст научной статьи по специальности «Клиническая медицина»

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Текст научной работы на тему «Manifestations of genetically determined conditions depending on the degrees of exogamy»

KoHrpecu, cMMno3iyMM, WKonu / Congresses, Symposiums, Schools

VORONTSOVA T.O., KUBEI I.B., YAREMA N.M., KOROBII M.I. Ternopil State Medical University named after I.Ya. Gorbachevsky, Ternopil, Ukraine

Manifestations of Genetically Determined Conditions Depending on the Degrees of Exogamy

Introduction. A tendency of increasing of undifferentiated connective tissue dysplasia syndrome (UCTDS) cases in children has been occurring lately. A significant attention to this pathology is associated with lesions of organs and systems, clinical polymorphism and late diagnosis. There are different scientific facts on the causes of UCTDS formation in children, which indicate the multifactorial nature of the disease. The role of the genetic factor in development of UCTDS in children is studied in our research. It is known that the rise of genetic anomaly is possible in the presence of genetically related material of the parents of a child. The genetic medical history was investigated; it allowed to identify the susceptibility for growth delay depending on the degree of exogamy that was based on marriage of children's parents who had medical examination. Three degrees of exogamy were distinguished: I degree — parents are from one village or different villages, which are distant from each other no more than 30 km; II degree — parents are from different population centers within the same region or the same city; III degree — parents are from different regions.

To analyze the influence of exogamy degree we have chosen a syndrome which may be diagnosed by the objective examination of the child; it is connective tissue dysplasia syndrome with hypermobility ofjoints. 64 children of school age were examined to identify the dependence of their health condition from the degrees of exogamy. The following degrees of exogamy were distributed during medical examination: I degree was found in 40 children, II degree was detected in 11 children and III degree was revealed in 9 children. UCTDS was exposed depending on the degree of exogamy in the following children: I degree — 11 children (27.5 %), II degree — 2 children (18.2 %), III degree — 0 children (0 %). UCTDS was manifested in 4 children more, but these indices were not taken into consideration due to the absence of information about their parents. The inverse average correlation connection between UCTDS and degree of exogamy (r = —0.36, p < 0.05) was showed and it confirmed the genetic component of UCTDS etiology. In addition to complexes of the UCTDS phenotype signs, every child with I exogamy degree had signs of some dysfunctions of different organs and systems. Some disturbances were functional (the presence of gallbladder deformations of different configuration), others had a morphological character (little anomalies of heart, scoliosis and flat-foot disease). Therefore, we can suppose the dependence of connective tissue dysplasia syndrome from exogamy degree, i.e. the genetic factor in etiology of UCTDS. This syndrome is a background pathology, and it is manifested by phenotype and changes in organs and systems of the human body.

VYBYRANA R., ZHULKEVYCH I.

Ternopil State Medical University named after

I.Ya. Gorbachevsky, Ternopil, Ukraine

Structural Analysis of Bone Tissue Lumbar Spine in Patients with Chronic Lymphoid Leukemia and Possible Ways to Correct

Introduction. Modern chemotherapy and immunotherapy of chronic lymphoid leukemia (CLL) has increased the overall survival of patients, so the question of the quality of life is particularly relevant. It's not actually studied the prevalence of secondary osteoporotic lesions (OL) of bone tissue (BT) at patients with CLL in different age groups and therefore there is no scientific basis of depending on the state of BT on age, sex and stage of lymphoproliferative process and methods of chemotherapy treatment that prevents timely diagnosis of osteoporotic (OP) and osteopenic changes BT at this category of patients and their adequate medical treatment and prevention.

Identify the major factors of modification BT at patients with CLL, depending on age, sex and stage lymphoproliferative process and methods of chemotherapy. Conduct clinical trials of treatment programs for correcting reduced bone mineral density (BMD) in patients with CLL. To improve the quality of life of patients with CLL.

Materials and methods. At the dual energy X-ray bone absorptiometry DPX-A «LunarCorp» company (USA) examined the lumbar spine (LS) at 180 patients with CLL.

There were clinically tested the treatment programs for the correction of reduced bone mineral density at patients with CLL: 1) treatment program number 1 with usage of the integrated product Calcium-D3 Nycomed;

2) treatment program number 2 using the drug Ostalon;

3) treatment program number 3 with the drug Bivalos.

Treatment regimens due to the presence of osteopenia

and OP changes BT LS surveyed 57 patients (37 women, 20 men) with CLL. The choice of treatment options depend on the depth of osteopenic changes BT identified by two-photon absorptiometry, and indications and contraindications to pharmacological stimulants.

Using the method of evaluation of clinical efficacy of medical facilities two groups of criteria were selected: 1) the state of BT LLS, which was assessed by BMD, total content of minerals and calcium BT LS; 2) changes of the general condition of patients (on a scale Karnofsky and impact on quality of life — in the main questionnaire EORTC QLQ-C30).

The drug Calcium-D3 Nycomed was appointed to 9 women aged 47 to 83 years old (middle age 64.00 ± 3.94 years), duration of menopause from 0 to 27 years (middle duration of menopause 10.44 ± 3.18), CLL duration from 1 to 108 months (average length of42.00 ± 12.30) and disease stage B and C for 4 months and 16 men aged 48 to 85 years (mean age 65.38 ± 2.89 years) with duration CLL from 0 to 132 months (average length of 37.44 ± 9.28 months) for 4 months at a dose of 1,000 mg per day.

№ 2 (18), 2015

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