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POSSIBILITIES OF COMPREHENSIVE CARE FOR GENETIC SKELETAL DISORDERS AT PRESENT

Citace:
MAŘÍK, I., MAŘÍKOVÁ, A., ZEMKOVÁ, D., MYSLIVEC, R., KUKLÍK, M., SMRČKA, V., KOZLOWSKI, K. POSSIBILITIES OF COMPREHENSIVE CARE FOR GENETIC SKELETAL DISORDERS AT PRESENT. Lublin, 2014.
Druh: PŘEDNÁŠKA, POSTER
Jazyk publikace: eng
Anglický název: POSSIBILITIES OF COMPREHENSIVE CARE FOR GENETIC SKELETAL DISORDERS AT PRESENT
Rok vydání: 2014
Autoři: Doc. MUDr. Ivo Mařík CSc. , Alena Maříková , Daniela Zemková , Radek Myslivec , Miloslav Kuklík , Václav Smrčka , Kazimierz Kozlowski
Abstrakt EN: The lecture summarizes longstanding experience of the authors with comprehensive treatment and care for the Genetic Skeletal Disorders (GSD). The authors are familiar so with treatment of bone metabolic disorders as with common reconstructive orthopaedic surgical procedures orthotic therapy and prosthetic fitting of disabled children and adults. GSD are distinguished as Primary Skeletal Dysplasias (SD) resulting from mutated genes that are expressed in chondro-osseous tissue and Secondary SD that are caused by abnormalities of extraosseous factors with secondary effects on skeletal system i.e. metabolic, enzymatic and hormonal disorders. Incidence is estimated 0.30 – 0.45 per 1000 live birth. The final shape of skeleton of GSD patients is consequence of genetic defects, mechanical stimuli and functional adaptation of bones (according to Utah paradigma defined by H. Frost in 1994). Skeletal and joint deformities are pathognomonic symptoms for concrete GSD which lead to biomechanically severe deformities of skeleton with consequence of premature osteoarthritis, spondylarthritis and osteoporosis and/or osteosclerosis. Symptomatic treatment of skeletal dysplastic deformities in childhood is early correction of both bone deformities and joint contractures (by physiotherapy, bracing, surgical procedures, prosthetic fittings etc.) with the aim to achieve an optimal growth, function of joints and spine and the anatomical shape and structure of the skeleton. Last but not least goal of comprehensive treatment is to correct bone metabolism (using calciotropic drugs) and biomechanical properties of the skeleton and to reach an individually ideal peak bone mass in adulthood. Credo of the authors is the biomechanical aspects of orthotic and surgical treatment and physiotherapy. Some results of comprehensive treatment are demonstrated as concise case reports.
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