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"Pain. Joints. Spine." 2 (18) 2015

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Manifestations of Genetically Determined Conditions Depending on the Degrees of Exogamy

Authors: Vorontsova T.O., Kubei I.B., Yarema N.M., Korobii M.I. - Ternopil State Medical University named after I.Ya. Gorbachevsky, Ternopil, Ukraine

Categories: Rheumatology, Traumatology and orthopedics

Sections: Medical forums

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Статья опубликована на с. 99

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 gene–tic 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 of joints. 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.

 


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