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No full textHere is a curious book. Its title-page declares "The Artist's Book of Fables" but its pre-title-page has "Fables, Original and Selected, with a Memoir of the Author." After that title-page, it is identical with "Fables, Original and Selected" as in our copy printed by John Murray in 1833. There is again an AI at the front and an index of engravings and engravers at the back. I found that copy twenty years ago. I had found an inferior copy twenty-two years before that. At that time, I noted Aesopic fables here including "Stone Broth" and "The Mouse and the Oyster."This is a hardbound book (hard cover)James Northcote, R.A
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
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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
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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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
Turbulent entrainment in a shearless mixing layer at the edge of a cloud
No full textThree-dimensional direct numerical simulations which combine the Eulerian description of temperature, vapor content and velocity with a Lagrangian ensemble of cloud water droplets are used to study the turbulent entrainment and subsequent mixing of clear air with a cloudy air filament. The study is conducted in a shearless mixing layer setup which is adjusted to realistic conditions at a cumulus cloud boundary. The magnitude of turbulent velocity fluctuations in- and outside the cloud can be varied independently. We find that the evolution of the cloud water droplet ensemble depends slightly only on the contrast of turbulent velocity fluctuations in- and outside the cloud filament. The buoyancy feedback on the flow via the evaporating droplets causes a transient amplification of all fluctuations before the turbulence eventually decays. We study the evolution of the probability density functions of droplet size as well as of supersaturation, temperature and vorticity at the droplet positions
Flyleaf of The Village Politicians, signed by author and publisher R.A. Parsons, and printed by Guardian Ltd.
No full textNewIntroduction. Flyleaf of the The Village Politicans by R.A. Parsons and printed by Guardian Ltd.DA vol. 15 no.
Non-Linear Time Series Analysis of Deep Groundwater Levels: An application to the Veluwe
No full textThe objective of this study is to improve the simulation of deep groundwater levels by time se- ries models with pre-defined impulse response functions. This is attempted by adding a conceptual non-linear root zone model to simulate the recharge series to the model and by testing the use of a separate response function for the percolation zone. Three root zone models are developed based on two different recharge mechanisms: preferential flow, percolation, and a combination of the two. The performance of these models is compared to a linear model that is commonly used in time se- ries models to simulate the recharge. The approach is applied to groundwater level measurements in the Veluwe, a largely forested area in the Netherlands characterized by thick unsaturated zones. The effect of groundwater extractions and land reclamations is added to the model to further im- prove the simulation of the groundwater levels. The models are tested on three observations wells with increasing thickness of the unsaturated zone, varying from 7 m to 29 m to 49 m. The results show that model performance is improved by the implementation of a non-linear root zone model, particularly in simulating the peaks and lows in the groundwater levels. The recharge fluxes simulated by the non-linear models show different patterns that are physically more realistic than those simulated by the linear model. It is shown that different recharge series result in simulated groundwater levels that are very similar. This is a clear example of equifinality and it is recommended to introduce new sources of information to validate the modelled processes (e.g., water content measurements of the percolation zone or actual evaporation data). For the shallow well, the models with a single response function are selected as the best. The largest improvements for the deeper groundwater levels are obtained by the addition of a separate response for the percolation zone. For example, the average deviation from the observed ground- water levels decreased 0.18 m to 0.08 m for the deepest observation well by applying the separate response function. The models with an additional response function were better at simulating the estimated time to peak, the time it takes a recharge pulse to cause a peak in the groundwater levels. The time to peak is introduced in this research as a qualitative indicator to validate the modelled processes. The simulated responses indicate that the groundwater levels respond very quickly to water that leaves the root zone, even though the percolation zone is tens of metres thick. For each of the observations wells it is investigated if adding the effect of groundwater extrac- tions or land reclamations of Flevoland to the models improves the simulation of the groundwater levels. For the shallow well it is concluded that either the effect of land reclamations or groundwater extractions needs to be taken into account. Since these two stresses are correlated, it is concluded that only one of these should be taken into account when no further information is available to con- strain the models. For the medium deep well, the additional stresses did not significantly improve model performance and it is concluded that they do not have to be taken into account for this well. For the deep well, model performance is improved by both stresses. The largest improvements are observed when the effect of groundwater extractions is considered in the model. For implemen- tation of these stresses, the entire simulation period should be used for calibration, or constraints have to be implemented to obtain realistic results.Water ResourcesWater ManagementCivil Engineering and Geoscience
Chemicals from renewable biomass: A renaissance in carbohydrate chemistry
No full textThe conversion of sugars, derived from waste polysaccharide biomass, to commodity chemicals by fermentation or catalytic hydrogenation, oxidation or dehydration or combinations thereof are reviewed.Accepted Author ManuscriptBT/Biocatalysi
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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