A missense mutation of C1659 in the fibroblast growth factor receptor 3 gene in Russian patients with hypochondroplasia.

To carry out the genetic screening for the common mutation in the first tyrosine kinase domain (TK1) of the fibroblast growth factor receptor 3 gene (FGFR3) in a Russian population, a cohort of 16 patients with hypochondroplasia diagnosed previously were studied, among them twelve familial cases and four sporadic cases. The heterozygous N540K FGFR3 mutation was detected in 9 cases (56.3%) due to that C1659A substitution in 6 patients and C1659G substitution in 3 patients, respectively. The ratios of familial and sporadic cases among patients which carried FGFR3 mutation were similar. Seven (43.7%) patients, negative cases of N540K mutation, were all familial cases. Our results support evidence of similar frequency of common type N540K mutation of FGFR3 in Russian hypochondroplasia and of the genetic heterogeneity of hypochondroplasia, suggesting the need for further search for responsible molecular abnormalities for phenotypically similar hypochondroplasia patients negative for TK1 domain mutation in FGFR3, reported in hypochondroplasia.

[Computed tomography of children with dysplasia of the hip joint]. / Komp'iuternaia tomografiia u detei s displaziei tazobedrennogo sustava.

The hip joints in 10 children were investigated with computerized tomography (CT). The method permitted the determination of the geometry of hip joints. It was used for a study of the pathogenesis of aseptic necrosis at early stages of its development in children with congenital dysplasia of the hip joint at early stages of disease. CT made it possible to establish anteversion of the cotyloid cavity, its degree, the shape and structure of the anterior and posterior wall of the cotyloid cavity, and a shift of the proximal hip end anteriorly in combination with the above changes in the whole hip joint.

[Osteoid osteoma of the hands and feet]. / Osteoid-osteoma kostei kistei i stop.

Having studied 38 patients with osteoid osteoma of the bones of hands and feet the authors have revealed a number of peculiarities in clinical and roentgenological picture of the tumour of this localization. The process involves neighbouring and even rather remote tissues (muscular atrophy, vegetative disturbances), quite often there are destruction of the bones adjacent to the affected one, articular changes looking like inflammation and pronounced sclerotic reaction. Osteoid osteoma of the bones of hands anf feet is characterized by subperiosteal form when the "nest" of the tumour is situated outside the bone, thus causing atrophy due to pressure of the tissues lying below. Since the only effective method of treatment of osteoid osteoma consists in surgical removal of the "nest", it is of utmost importance to take into consideration atypical course of the tumour of this localization when maring the diagnosis. Angiographic investigation may be of considerable help in diagnostics.

[Medical genetics study of the population of Kostroma Province. II. The diversity of hereditary pathology in 5 districts of the province]. / Mediko-geneticheskoe izuchenie naseleniia Kostromskoi oblasti. Soobshchenie II. Raznoobrazie nasledstvennoi patologii v piati raionakh oblasti.

The diversity of hereditary pathology in 5 regions of Kostroma district was studied. 32 nosological forms of autosomal dominant, 30 autosomal recessive and 7 X-linked recessive disorders were found. The most frequent autosomal dominant disorders were: neurofibromatosis, pigmentary degeneration of retina, hypochondroplasia, ichtiosis, idiopathic scoliosis. The most frequent among the autosomal recessive disorders were: oligophrenia, pigmentary degeneration of retina, muscular atrophy of juvenile Kugelberg--Welander type, congenital cataract. The most frequent X-linked disorders were: muscular Duchenne type dystrophy and hemophilia A. Analysis of mutant gene distribution over the territory by the study of birthplaces of probands and their parents was carried out.

[Medico-genetic study of the population of Kostroma Province. I. The population burden of hereditary pathology]. / Mediko-geneticheskoe izuchenie naseleniia Kostromskoi oblasti. Soobshchenie I. Otiagoshchennost' naseleniia nasledstvennoi patologiei.

Data on the prevalence of hereditary diseases in five regions of the Kostroma province were obtained and analysed. It was shown that the ascertainment was close to the truncate selection for the rural population and to the single selection for the urban population. Segregational analysis proved the rightness of the material subdivision, according to the type of inheritance. The load of hereditary diseases (for the registered forms) in the population was: 0.78 +/- 0.08 X 10(-3) for autosomal dominant, 0.75 +/- 0.08 X 10(-3) for autosomal-recessive and 0.54 +/- 0.1 X 10(-3) for X-linked recessive disorders. The dynamics of the load of hereditary diseases in the populations with different structure is discussed.

[Medico-genetic study of the population of Uzbekistan. VI. Hereditary pathology among the populations of 4 regions of the Kashkadarinskaia area]. / Mediko-geneticheskoe izuchenie naseleniia Uzbekistana. Soobshchenie VI. Nasledstvennaia patologiia u naseleniia chetyrekh raionov Kashkadar'inskoi oblasti.

The screening for families burdened with multiple cases of non-infectious diseases, the diagnostic of those diseases and the investigation of relations between the population structure and the distribution of hereditary diseases in 4 districts of the Kashkadarja province were carried out. On the basis of the data obtained the load of excessive hereditary diseases was calculated and nosological spectrum was described; it included more than 30 different diseases. The study of spatial distribution of recessive diseases has shown that the load of hereditary diseases may be accounted for the positive assortative matings. The high level of interpopulation migration prevents from the local accumulation of a certain hereditary disease.