185 research outputs found
Epidemiology of hereditary eye disease in the populations of Russian Federation
No full text
V.V. Kadyshev1, E.K. Ginter1, S.I. Kutsev1, Zh.G. Oganezova1,2, R.A. Zinchenko1,3
1Research Center for Medical Genetics, Moscow, Russian Federation
2Pirogov Russian National Research Medical University, Moscow, Russian Federation
3N.A. Semashko National Research Institute of Public Health, Moscow, Russian Federation
Aim: genetic epidemiological study of hereditary eye diseases in various populations of the Russian Federation and comparative analysis of these findings.
Patients and Methods: the sample included 12 ethnic groups from 14 regions of European Russia. The entire population irrespective of gender or age was examined. To confirm a certain type of inheritance of diseases from heterogeneous groups, the material was subjected to the multicomponent analysis used in multiple family registration. The rate of segregation was evaluated using the Weinberg proband method. Molecular genetic tests (Sanger sequencing, MLPA, AFLP, RFLP, whole exome sequencing) were applied. To identify the cases of hereditary disease accumulation in individual populations and/or ethnic groups, the prevalence of certain diseases in this population was calculated using F-distribution to compare the samples of rare diseases.
Results: more than 46,000 patients and their relatives with presumably hereditary conditions were examined and data were collected. 554 clinically diverse hereditary diseases in 9,979 individuals were identified. Isolated hereditary eye disease (60 clinical variants) was identified in 1,407 patients (14.56%). The mean prevalence of isolated hereditary eye disease was 1:2,272 (or 44.01 per 100,000). When assessing patterns of nosological spectrum and prevalence of isolated hereditary eye disease in each population/ethnic group using principal component analysis, 2 clusters were isolated. The first cluster includes 6 Russian populations and the second cluster includes 5 ethnic Volga Region groups, which are more similar to Russian populations than the North Caucasus people. In general, 57 hereditary syndromes (affecting anterior and posterior eye segments) in 1,051 patients were discovered. The mean prevalence of syndromic hereditary eye disease was 1:3,040 (or 32.89 per 100,000).
Keywords: ophthalmogenetics, genetic epidemiological study, spectrum, ethnic grou p, type of inheritance, segregation, accumulation, isolated and syndromic hereditary eye diseases, prevalence, retinal degeneration.
For citation: Kadyshev V.V., Ginter E.K., Kutsev S.I. et al. Epidemiology of hereditary eye disease in the populations of Russian Federation. Russian Journal of Clinical Ophthalmology. 2022;22(2):69–79 (in Russ.). DOI: 10.32364/2311-7729-2022-22-2-69-79.
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Wykonywanie władzy delegowanej kilku lub wielu osobom (kan. 140–141 KPK)
No full textIn the presented article the author made detailed interpretation of can. 140–141 CIC which concerning power delegated to one or many persons. He pointed out that the rules included in these canons are supposed to guarantee „collision - free” realization of the one’s duties.The author proved that the dispositions concerning power delegated in solidum and consecutively are not of a nature of an annulling act (can. 140 § 1, 141 CIC). He believes that what the legislator tried to avoid by using such legislative techniques was invalidity of actions taken by other delegated persons.On the other hand, the directives included in can. 140 § 2 CIC concerning collegial delegation are of a nature of an annulling act. This, however, results not from the content of the canon but rather from the nature of things since a collegiate act is substantially not a sum acts of particular people but a new act.In the presented article the author made detailed interpretation of can. 140–141 CIC which concerning power delegated to one or many persons. He pointed out that the rules included in these canons are supposed to guarantee „collision - free” realization of the one’s duties.The author proved that the dispositions concerning power delegated in solidum and consecutively are not of a nature of an annulling act (can. 140 § 1, 141 CIC). He believes that what the legislator tried to avoid by using such legislative techniques was invalidity of actions taken by other delegated persons.On the other hand, the directives included in can. 140 § 2 CIC concerning collegial delegation are of a nature of an annulling act. This, however, results not from the content of the canon but rather from the nature of things since a collegiate act is substantially not a sum acts of particular people but a new act
Chondrichthyan remains from the Lower Carboniferous of Muhua, southern China
No full textThe shallow water assemblage of chondrichthyan microremains, teeth, tooth plates and scales, from the middle Tournaisian (Mississippian) of the vicinity of Muhua village, Guizhou province, southern China, is thus far the richest and most diverse association of this age collected from a single locality and horizon, and represents a chondrichthyan community very restricted in time and space. It was recovered from a small bioclastic limestone lens, MH-1, occurring among basinal marks near the base of the Muhua Formation, and dated as to the Siphonodella crenulata conodont Zone. The majority of the fauna presented here consists of teeth with euselachian-type bases and crushing crowns belonging to bottom-dwelling durophagous chondrichthyans, most probably feeding on shelly invertebrates such as the abundant brachiopods. We assigned most of these teeth to Euselachii (six species, among them Cassisodus margaritae gen. et sp. nov.), Petalodontiformes (two species), Holocephali (five species), and Euchondrocephali incertae sedis (Cristatodens sigmoidalis gen. et sp. nov.). We also identified primitive polycuspid, clutching teeth representing Phoebodontiformes (Thrinacodus bicuspidatus sp. nov.), Symmoriiformes, and Ctenacanthiformes. The scales are typical growing, compound forms of the protacrodont, ctenacanth, and hybodont types. Two problematic denticulated plates were found, one of which resembles mandibular or palatal plates of Sibyrhynchus (Iniopterygii). Several of the identified chondrichthyan taxa have hitherto been known only from Laurussia, especially from the British Isles and central USA. In particular we found the first record of Chondrenchelys sp. and Diclitodus denshumani outside their type locality. Th. bicuspidatus sp. nov., also known from Nevada, Iran, and NW Australia, appears to be a cosmopolitan, middle Tournaisian index fossil.http://gateway.webofknowledge.com/gateway/Gateway.cgi?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000252068800004&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=8e1609b174ce4e31116a60747a720701PaleontologySCI(E)17ARTICLE4705-7275
Instructions by canon law system (can. 34 § 1–3 CCL)
No full textThe author presents an interpretation of can. 34 § 1–3 CCL concerning instructions. The analyses show that today names of general measures issued by authorities having the executive power present a big conceptual chaos. The author has proven that the facts indicate that the intention of the legislature in the work of codification aiming to standardize the names misfired. In his opinion, the norm included in canon. 34 CCL remains only a written record because a definition of instructions codified in canon. 34 § 1 of the CCL is in practice the only point of reference which allows classifying general application acts issued by the executive power.Autor dokonał interpretacji kan. 34 § 1–3 KPK dotyczącego instrukcji. Z przeprowadzonych w tym artykule analiz wynika, iż współcześnie w nazewnictwie aktów o charakterze generalnym, wydawanych przez autorytety posiadające władzę wykonawczą, występuje duży chaos pojęciowy. Autor dowiódł, iż taki stan faktyczny wskazuje na to, iż zamiar ustawodawcy występujący w pracach kodyfikacyjnych, zmierzający do ujednolicenia nazewnictwa, spełzł na niczym. W jego przekonaniu zapis ujęty w kan. 34 KPK pozostaje zapisem wyłącznie na papierze. Definicja instrukcji skodyfikowana w kan. 34 § 1 KPK w praktyce stanowi bowiem jedynie punkt odniesienia, pozwalający sklasyfikować wydawane przez władzę wykonawczą akty o charakterze generalnym
The need for marriage vows renewal in the case of a common annulment caused by an annulling obstacle
No full textThe author in the present article focused on a very specific problem of the need the renewal of marriage vows in the case of annulment caused by an annulling obstacle The main aim of the author was to present the legal arguments resulting from the disposition included in canon 1156 § 2. According to the analyses carried out, the legislator introduced this solution in order to strongly object to the validation of marriage on the strength of the law alone. Moreover, the author believes that the necessity for marriage vows renewal was introduced with a view to calming the conscience of the parties involved
Konieczność ponownego wyrażenia zgody małżeńskiej w przypadku aplikacji uważnienia zwykłego małżeństwa z racji wystapienia przeszkody zrywającej
No full textThe author in the present article focused on a very specific problem of the need the renewal of marriage vows in the case of annulment caused by an annulling obstacle The main aim of the author was to present the legal arguments resulting from the disposition included in canon 1156 § 2. According to the analyses carried out, the legislator introduced this solution in order to strongly object to the validation of marriage on the strength of the law alone. Moreover, the author believes that the necessity for marriage vows renewal was introduced with a view to calming the conscience of the parties involved
Lack of canonical knowledge in marriage as a drawback of marital concord (can. 1096 §§ 1 -2 CIC )
No full textThe author of the presented article focused on the interpretation of canon can. 1096 §§ 1 -2 CIC. What he pointed out is that canon includes elements essential to knowledge about marriage, necessary to enter into marriage.Raising the issue of the necessity for the contracting parties to obtain knowledge as for the spouse’s own good, the author supported the thesis that this requirement is partially contained in the knowledge of relativity of marital union pointed out by the docrine.As far as future codification is concerned, the author spoke in favor of abolishing the presumption included in canon 1096 § 2 CIC because of the difficulties connected with determining the age og maturity. What he calls for is that in this case reference should be made to the solution codified in Code of Canons of the Eastern Church (ca. 891), in which the legislator did not address the issue leaving it to judges hearing the case to determine the required age of maturity
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