158 research outputs found
Study of hereditary non-syndromic ophthalmic pathology of child population of the Karachay-Cherkess Republic: features and structure of nosological spectrum
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V.V. Kadyshev1, A.V. Marakhonov1, S.I. Kutsev1,2, R.A. Zinchenko1,3
1 Research Centre of Medical Genetics of the Russian Academy of Medical Sciences, Moscow,
Russian Federation
2 Pirogov Russian National Research Medical University, Moscow, Russian Federation
3 M.F. Vladimirsky Moscow Regional Research and Clinical Institute (MONIKI), Moscow,
Russian Federation
The publication is a continuation of the previously submitted data on the study of the epidemiology of ophthalmic diseases in children of the Karachay-Cherkess Republic. Genetic and epidemiological study of the population includes a research of a wide range of indicators. A burden assessment of the hereditary ocular pathology of the child population of the surveyed region and the data of molecular genetic diagnostics were published earlier. This article presents structure and features of a nosological spectrum of the visual organ hereditary pathology.
Aim: to study the nosological spectrum and its features of hereditary non-syndromic ophthalmic pathology among the child population of the Karachay-Cherkess Republic.
Patients and Methods: 90793 children from 10 regions of the Karachay-Cherkess Republic between the ages of 0 and 18 were examined, of which 121 people were enrolled in set. To solve the problem, genetic and epidemiological, clinical, paraclinical examination methods were used.
Results: the structure and features of the nosological spectrum of non-syndromic hereditary ophthalmic pathology were determined in the child population of 10 regions of the Karachay-Cherkess Republic and the city of Cherkessk. Congenital malformations of the visual organ and hereditary pathology of the posterior segment of an eye (58%) make the main contribution to the prevalence. An overall prevalence of hereditary ocular pathology was at ratio 1:671. It was revealed that a large proportion of hereditary diseases of the visual organ with an autosomal dominant inheritance pattern (1:1163). The prevalence of autosomal recessive pathology was at ratio 1:2268 of people.
Conclusion: autosomal dominant diseases make a greater contribution to the structure of the nosological spectrum — 1:1163. Congenital malformations of the visual organ and pathology of the posterior segment of the eye are prevalent in the structure of the pediatric nosological spectrum.
Key words: epidemiology, genetics, hereditary pathology, nosological spectrum, children, Karachay-Cherkess Republic.
For citation: Kadyshev V.V., Marakhonov A.V., Kutsev S.I., Zinchenko R.A. Study of hereditary non-syndromic ophthalmic pathology of child population of the Karachay-Cherkess Republic: features and structure of nosological spectrum. Russian Journal of Clinical Ophthalmology. 2019;19(1):7–12.
About the authors:
1Vitalii V. Kadyshev — MD, PhD, Senior Researcher of the Laboratory of Genetic Epidemiology;
1Andrei V. Marakhonov — PhD, Biology, Senior Researcher of the Laboratory of Genetic Epidemiology;
1,2 Sergei I. Kutsev — MD, PhD, Professor, Сorresponding Member of RAS, Head of the Research Centre of Medical Genetics, Head of the Department of Molecular and Cell Genetics;
1,3Rena A. Zinchenko — MD, PhD, Professor, Deputy Director of the Scientific and Clinical Study, Head of the Laboratory of Genetic Epidemiology.
1Research Center of Medical Genetics. 1, Moskvorechie str., Moscow, 115522, Russian Federation.
2Pirogov Russian National Research Medical University. 1, Ostrovityanova str., Moscow, 117997, Russian Federation.
3Moscow Regional Research and Clinical Institute. 61/2, Shchepkina str., Moscow, 129110, Russian Federation.
Contact information: Vitalii V. Kadyshev, e-mail: [email protected]. Financial Disclosure: no author has a financial or property interest in any material or method mentioned. There is no conflict of interests. Received 06.12.2018.<br
Clinical and genetic aspects of albinism
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V.V. Kadyshev, S.A. Ryazhskaya, O.V. Khalanskaya, N.V. Zhurkova, R.A. Zinchenko
Research Center for Medical Genetics, Moscow, Russian Federation
Albinism is a clinically and genetically heterogeneous group of hereditary diseases whose pathogenesis is mediated by impaired synthesis of melanin which results in its partial or total loss. Reduced melatonin level clinically manifests as skin, hair, and ocular hypopigmentation. Ocular presentations include hypopigmentation/lack of pigmentation of eye fundus and iris, foveal hypoplasia, low vision, nystagmus and strabismus, photophobia, iris transillumination, and asymmetrical decussation of nerve fibers at the optic chiasm. However, albinism can be a part of more complex genetic syndromes, e.g., Hermansky-Pudlak syndrome or Chediak-Higashi syndrome. These disorders should be identified as early as possible to start therapy to prevent life-threatening conditions. Partial albinism with ocular, skin or hair hypopigmentation not associated with melanogenesis (e.g., Griscelli syndrome, Waardenburg syndrome, Aland Island eye disease, etc.) also occurs. Each case of albinism requir es an accurate molecular genetic diagnosis to provide a personalized treatment approach, predict life expectancy and health status, and plan pregnancy.
Keywords: albinism, Hermansky-Pudlak syndrome, Chediak-Higashi syndrome, hypopigmentation, clinical polymorphism, genetic heterogeneity.
For citation: Kadyshev V.V., Ryazhskaya S.A., Khalanskaya O.V. et al. Clinical and genetic aspects of albinism. Russian Journal of Clinical Ophthalmology. 2021;21(3):175–180 (in Russ.). DOI: 10.32364/2311-7729-2021-21-3-175-180.
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Study of the hereditary non-syndromic ophthalmological pathology of child population of the Karachay-Cherkess Republic: estimations of genetic load and molecular genetic analysis
No full text
V.V. Kadyshev1, A.V. Marakhonov1, S.I. Kutsev1,2, R.A. Zinchenko1,3
1 Research Centre of Medical Genetics of the Russian Academy of Medical Sciences, Moscow, Russian Federation
2 Pirogov Russian National Research Medical University, Moscow, Russian Federation
3 M. F. Vladimirsky Moscow Regional Research and Clinical Institute (MONIKI), Moscow, Russian Federation
Abstract
The publication continues the previously presented data on the study of the epidemiology of ophthalmic diseases in the children of the Karachay-Cherkess Republic. Genetic epidemiological study of the population includes the study of a wide range of aspects. The structure of the nosological spectrum was published previously. The study of the genetic load is an integral part of this work.
Aim: the purpose of this study was to investigate the specific features of the genetic load of hereditary non-syndromic ophthalmologic pathology in the population of the Karachay-Cherkess Republic.
Patients and Methods: 90 793 children from 10 districts of the Karachay-Cherkess Republic aged 0–18 were examined, of which 121 were included in the sample. The biomaterial (peripheral venous blood) is taken from a part of patients taking into account the legislative and legal standards of the Russian Federation. In the study, genetic-epidemiological, statistical, molecular-genetic methods of examination were used.
Results: the values of genetic load of non-syndromic hereditary eye pathology in the child population of 10 districts of the Karachay-Cherkess Republic and the city of Cherkessk is established. The total load of the non-syndromic hereditary pathology of the eye was 1.33±0.12. Statistical analysis of the obtained genetic load data demonstrated significant differences between autosomal dominant pathology in rural and urban populations (for rural population — t=2.3, for urban — t=2.8). The group of patients underwent confirmatory molecular genetic diagnosis.
Conclusions: 1. The genetic load of the hereditary pathology of the organ of vision in the Karachay-Cherkess Republic among children was 1.33±0.12. 2. The prevalence of AD pathology over diseases with AR inheritance in both rural and urban subpopulations was revealed. 3. Region-specific molecular genetic markers for the hereditary pathology of the organ of vision are not established at this stage.
Key words: epidemiology, genetics, genetic load, DNA diagnosis, children, Karachay-Cherkess Republic.
For citation: Kadyshev V.V., Marakhonov A.V., Kutsev S.I., Zinchenko R.A. Study of the hereditary non-syndromic ophthalmological pathology of child population of the Karachay-Cherkess Republic: estimations of genetic load and molecular genetic analysis. RMJ “Clinical ophthalmology”. 2018;3:134–139.
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Nostalgia for a Personality: roaming like a babe in the woods (From personal archive V.P. Zinchenko)
No full textThe paper analyses such polysemantic terms as “subject”, “individual”, “personality”, and which form sincretic notions, e.g. “subjectivity of personality”, “multisubjectivity
of personality”, etc. The author claims that he was unable to find in the works of other authors meaningful connections between the concepts of «subject» and «personality». The concept of
«subject» is used in such a wide meaning that its content potential is close to zero. It highlights the complexity of understanding the subject, and provides evidence of the difficulties that the author finds in the works of the leading philosophers and psychologists who are concerned with the issue of personality. As a result, the author concludes that the analysis of the different forms of reflexivity and, their base practices are the theory of psychology of the subject. The second term of the triad – the individual or the individuality, is both the subject and the subject matter and objective of an infinite number of studies. At the same time the concepts of «subject» and «personality» are not congruent to the concept of «individual», although many attempts to define or describe the personalityare repelled by the notion of individual. The phenomenon of personality expresses a rather late result of human development. The interpretation of these terms by G.G. Shpet, S.L. Rubinshtein, B.M. Teplov, A.N. Leontiev, etc. is refurbished. The author believes the main issue of psychological research is personality. On the ontological plane,there are two notions of personality: down — to the subject — to a function or a collection of functions; and up — to the
personality — to an ideal, to the limit of self-construction, to spirituality and freedom
One in a million: flow cytometric sorting of single cell-lysate assays in monodisperse picolitre double emulsion droplets for directed evolution
No full textDirected evolution relies on iterative cycles of randomization and selection. The outcome of an artificial evolution experiment is crucially dependent on (i) the numbers of variants that can be screened and (ii) the quality of the assessment of each clone that forms the basis for selection. Compartmentalization of screening assays in water-in-oil emulsion droplets provides an opportunity to screen vast numbers of individual assays with good signal quality. Microfluidic systems have been developed to make and sort droplets, but the operator skill required precludes their ready implementation in nonspecialist settings. We now establish a protocol for the creation of monodisperse double-emulsion droplets in two steps in microfluidic devices with different surface characteristics (first hydrophobic, then hydrophilic). The resulting double-emulsion droplets are suitable for quantitative analysis and sorting in a commercial flow cytometer. The power of this approach is demonstrated in a series of enrichment experiments, culminating in the successful recovery of catalytically active clones from a sea of 1?000?000-fold as many low-activity variants. The modular workflow allows integration of additional steps: the encapsulated lysate assay reactions can be stopped by heat inactivation (enabling ready control of selection stringency), the droplet size can be contracted (to concentrate its contents), and storage (at ?80 °C) is possible for discontinuous workflows. The control that can be thus exerted on screening conditions will facilitate exploitation of the potential of protein libraries compartmentalized in droplets in a straightforward protocol that can be readily implemented and used by protein engineer
Onthophilus extraordinarius Reichardt 1941
No full textOnthophilus extraordinarius Reichardt, 1941 Onthophilus extraordinarius Reichardt 1941: 344, 410 (holotype, “ Sibirea orientalis: prov. Ussuriensis, Vladivostok, 2.VI 1919 ”, H. Fried leg. [Russia, Primorsky Krai, environs of Vladivostok] [ZIN]); Kryzhanovskij & Reichardt, 1976: 288 (Vladivostok); Zinchenko et al., 2009: 25 (Khabarovsky Krai, Bychikha). Onthophilus jakli Kapler, 1993: 25, ♂, (holotype, ♂, Russia or., Ussuri reg., Jasnoe 500 m, 12.VII 1989, Jákli leg.) [in the author collection]; syn. n. MATERIAL EXAMINED. Russia: Primorsky Krai: Vladivostok, 2.VI 1919, 1 ex., leg. H. Fried (ZIN); Suvorovka River, Lamazin Creek valley, 1.VII 1983, 1 ex., leg. G.Sh. Lafer (ZIN); Lazovski Nature Reserve, Cordon Zviozdochka, 14–21.V 2009, 2 ♂, leg. S.A. Kurbatov; 20 km W of Nezhino, upper Malaia Ananievka River, 6.VIII 1988, 1 ♂, leg. S.A. Kurbatov (CSCA); 16 km N Sergeevka village, vicinity of Molchanovka, on carrion, 28. VI 1972, 2 ex., leg. E.L. Gur’eva (ZIN); Barabash-Levada, 44.7539ºN, 131.4277ºE, on dry [animal] bones, 24.V 1969, 5 ex., A.G. Kireychuk (ZIN); Sikhote-Alin Nature Reserve, middle course of Serebryanka River, Serebryanyy Spring, 15.VI 2018, 3 ♂, 8 ♀, leg. M.E. Sergeev; Kedrovaya Pad Nature Reserve, near Primorsky, 1.V 2015, 1 ♀, M.E. Sergeev; Ussuri Nature Reserve, along the road between Cordons 1 and 2, 25.IV 1983, 1 ex., leg. Z. V. Demidenko (ISEA). NOTES. AKT was able to put side by side the Reichardt’s holotype of O. extraordinarius with (labeled “Vladivostok, Ost-Asien, Herm. Frieb. 2. VI 1914 (1919)” from the collection of ZIN as well as all-above mentioned more recent ZIN specimens of the species with a male and female from the type series of O. jakli Kapler. There is no doubt that these two taxa are conspecific. Apparently, Kapler never saw authentic material of O. extraordinarius and got confused dealing only with the keys of Reichardt and Kryzhnovskij. It should be noted that O. extraordinarius males possess a deep setose depression occupying most of the metaventral disc, making their identification pretty straightforward. DISTRIBUTION. Russia: Primorsky Krai (Kryzhanovskij, 1989) and south of Khabarovsky Krai (Zinchenko et al., 2009).Published as part of Tishechkin, A. K., Zinchenko, V. K. & Sergeev, M. E., 2022, New and little known Histeridae species (Coleoptera) from Russia with a synonymy note, pp. 11-16 in Far Eastern Entomologist 467 on page 15, DOI: 10.25221/fee.467.2, http://zenodo.org/record/739965
Analyzing the efficacy of a novel method for detecting achromatopsia
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N.V. Sukhanova1, S.I. Rychkova2,3,4, V.G. Likhvantseva5, R.I. Sandimirov3, V.V. Kadyshev1, R.A. Zinchenko1
1Research Center for Medical Genetics, Moscow, Russian Federation
2Institute for Information Transmission Problems of the RAS (Kharkevich Institute), Moscow, Russian Federation
3Pirogov Russian National Research Medical University, Moscow, Russian Federation
4A.I. Burnazyan Federal Medical Biophysical Center of the Federal Medical Biological Agency of Russia, Moscow, Russian Federation
5Academy of Postgraduate Education of the Federal Scientific and Clinical Center of the Federal Medical Biological Agency of Russian Federation, Moscow, Russian Federation
Aim: to assess the efficacy of a novel method for diagnosing achromatopsia.
Patients and Methods: twenty patients with congenital achromatopsia established by genetic testing were enrolled. Sixteen (80%) patients were diagnosed with mutations in the CNGB3 gene and 4 (20%) patients were diagnosed with mutations in the CNGA3 gene. The control group 1 (with eye diseases) included 37 patients with congenital optic atrophy and 5 patients with oculocutaneous albinism. The control group 2 (without eye diseases) included 40 individuals. At the initial stage of the study, we compared the perception of brightness of chromatic and achromatic images in patients with achromatopsia. To this end, we employed our own images with specific characteristics of color tone, lightness (brightness), and saturation. The results of the first phase have demonstrated that for most patients with achromatop-sia, the lightest and least distinguishable images on a white background are blue. In light of this, we developed tests to detect achromatopsia (tests #1 and #2). Each test comprises four gray silhouette images (with a lightness of 80% for test #1 and 50% for test #2) and four blue images (R0/G255/B255). For the blue images, saturation is maximal (S 100%) in both tests, while luminosity is L 80% for test #1 and L 50% for test #2.
Results: all individuals in the control group 2, patients with optic atrophy and oculocutaneous albinism, were able to see all blue and gray images of both tests and easily identified the blue images corresponding to the gray (achromatic) ones. In the first test, 95% of patients with achromatopsia (n=19) were unable to see blue images or distinguish their shape from gray images. In contrast, all patients were able to distinguish the shape of gray images of the same lightness and specify them. In test #2 (L 50%), the majority of patients (n=13, 65%) exhibited difficulties with the shape of blue images. The remaining seven patients (35%) demonstrated the ability to name blue images and match them to gray images. Two of them were diagnosed with mutations in the CNGA3 gene, while five of them were diagnosed with mutations in the CNGB3 gene. Therefore, the cone system disorder in these patients was less severe than in the others.
Conclusion: the achromatopsia test, developed on the basis of comparative analysis of perceived luminosity of chromatic and achromatic images, is simple and accessible. This test provides preliminary differential diagnosis with other eye diseases and determines the most appropriate strategy of further examinations to establish the diagnosis.
Keywords: achromatopsia, color vision, method to diagnose achromatopsia, color per-ception abnormality, monochromacy, color vision deficiency, color disfunction.
For citation: Sukhanova N.V., Rychkova S.I., Likhvantseva V.G., Sandimirov R.I., Kadyshev V.V., Zinchenko R.A. Analyzing the efficacy of a novel method for detecting achromatopsia. Russian Journal of Clinical Ophthalmology. 2024;24(2):49–54 (in Russ.). DOI: 10.32364/2311-7729-2024-24-2-1.
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Origin of mantle eclogites from the Catoca pipe (Kasai Craton, Western Africa): three eclogite lithologies from two layers of oceanic crust
No full textResearch Data associated with the article "Origin of mantle eclogites from the Catoca pipe (Kasai Craton, Western Africa): three eclogite lithologies from two layers of oceanic crust" by Korolev N., Nikitina L.P., Goncharov A., Dubinina E.O., Melnik A., Müller D., Chen Y.X., Zinchenko V.N. (2019).
* Corresponding author N. Korolev
[email protected]
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