The mode of Scheuermann's disease inheritance and its phenotypic traits in probands and their relatives were studied in 90 pedigrees (90 probands and 385 relatives). The disorder was identified as a genetically related pathology inherited by autosomal dominant type, controlled by a mutant major gene, as a kyphotic deformity without signs of vertebral bodies' anomaly and torsion. Morphological and biochemical studies showed disturbance in the structure of vertebral growth plate anterior aspects at the level of deformity, defects in proliferation and differentiation of chondrocytes, and change in proteoglycan spectrum in cells and matrix. Twelve candidate genes were studied in chondrocytes isolated from vertebral growth plates of patients with Scheuermann's disease. The study results included disorder in the IHH gene expression and preservation of the expression of PAX1, two aggrecan isoforms, link protein, types I and II collagen, lumican, versican, growth hormone and growth factor receptor genes, and proliferation gene. Preservation of the SOX9 gene (transcription gene) probably indicates posttranscriptional genetic disorders. The study is under way.
Scheuermann disease [OMIM number 181440] is the most common cause of structural kyphosis in adolescence. Segregation analysis using a model with gender effects was applied to 90 pedigrees from Barnaul (West Siberia, Russia) ascertained through a proband with Scheuermann disease. The transmission probability model was used to detect major gene effect. A significant contribution of a major gene to the control of the pathology was established. Inheritance of the disease can be described within the framework of a dominant major gene diallele model. According to this model, Scheuermann disease should never occur in the absence of the mutant allele. All male carriers of the mutant allele develop the disease, while only a half of female carriers manifest it. We found a high frequency of idiopathic scoliosis in the families with Scheuermann disease (0.08 vs. 0.01-0.02 in general population). We also observed a succession of idiopathic scoliosis and Scheuermann disease in consecutive generations. The familial aggregation of these two spinal pathologies in the present sample may indicate a genetic unity of Scheuermann disease and idiopathic scoliosis.
NISAG rats with stress-induced arterial hypertension are characterized by hyperactivity of the sympathoadrenal system under rest conditions and during stress exposure.
Аннотация. Определен уровень информированности специалистов аптечных организаций г. Перми о составе и особенностях действия лечебно-косметических средств для лечения перхоти. По результатам анкетирования выявлено, что 70% специалистов для консультирования покупателей нуждаются в дополнительной информации. Изучен ассортимент лечебно-косметических средств для лечения перхоти аптечных организаций. Выявлено 66 наименований средств данной группы. Составлена информационная база о лечебно-косметических средствах для лечения перхоти, включающая в себя сведения о компанияхпроизводителях и компонентном составе. Проведен анализ структуры ассортимента по действующим компонентам. Подготовлены информационные материалы для специалистов аптечных организаций, осуществляющих консультирование покупателей лечебно-косметических средств. Ключевые слова: лечебно-косметические средства, перхоть, противогрибковые компоненты, аптечная организация.
Objective. To analyse the mechanism of Sheuermann’s disease genetic determination in a representative samples of pedigrees and to identify its hereditary phenotypic signs. Material and Methods. Patients with Scheuermann’s disease (90 probands and 385 relatives of 1st–3rd relation degree) were examined using clinical-genetical, optical topographical, and radiological methods. Results. Scheuermann’s disease incidence among closest relatives of the probands was 0.143 in sisters (n = 21), 0.476 in brothers (n = 21), 0.250 in mothers (n = 84), and 0.743 in fathers (n = 35). These values significantly exceed the incidence in general population, what confirms a familial aggregation of Scheuermann’s disease. The incidence was higher in brothers and fathers of the probands than in their sisters and mothers, respectively. Both parents have been examined in 32 probands. Out of these families 5 had both parents unaffected, 22 families had affected fathers, 4 families had affected mothers, and 1 family had both parents affected. This also indicates that men are more predisposed to Scheuermann’s disease than women. Conclusion. Segregation analysis has shown that Scheuermann’s disease is a genetically dependent pathology inherited by autosomal dominant type and controlled by major gene with full pentrance in boys and 50 % penetrance in girls.
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