scholarly journals Epidemiology of Rare Hereditary Diseases in the European Part of Russia: Point and Cumulative Prevalence

2021 ◽  
Vol 12 ◽  
Author(s):  
Rena A. Zinchenko ◽  
Eugeny K. Ginter ◽  
Andrey V. Marakhonov ◽  
Nika V. Petrova ◽  
Vitaly V. Kadyshev ◽  
...  
Keyword(s):  
Autosomal Recessive ◽  
Autosomal Dominant ◽  
European Part ◽  
Point Prevalence ◽  
Hereditary Diseases ◽  
Total Size ◽  
Epidemiological Analysis ◽  
Coding Systems ◽  
European Part Of Russia ◽  
Cumulative Prevalence

The issue of point prevalence, cumulative prevalence (CP), and burden of rare hereditary diseases (RHD), comprising 72–80% of the group of rare diseases, is discussed in many reports and is an urgent problem, which is associated with the rapid progress of genetic technology, the identification of thousands of genes, and the resulting problems in society. This work provides an epidemiological analysis of the groups of the most common RHDs (autosomal dominant, autosomal recessive, and X-linked) and their point prevalence (PP) and describes the structure of RHD diversity by medical areas in 14 spatially remote populations of the European part of Russia. The total size of the examined population is about 4 million. A total of 554 clinical forms of RHDs in 10,265 patients were diagnosed. The CP for all RHDs per sample examined was 277.21/100,000 (1:361 people). It is worth noting that now is the time for characterizing the accumulated data on the point prevalence of RHDs, which will help to systematize our knowledge and allow us to develop a strategy of care for patients with RHDs. However, it is necessary to address the issues of changing current medical classifications and coding systems for nosological forms of RHDs, which have not kept pace with genetic advances.

scholarly journals Amelogenesis Imperfecta – Case Series and Management

2019 ◽  
pp. 12-17
Author(s):  
Rishi Tyagi ◽  
Namita Kalra ◽  
Amit Khatri ◽  
Harsh Singh ◽  
Mayank Sharma ◽  
...  
Keyword(s):  
Early Intervention ◽  
Preventive Care ◽  
Autosomal Recessive ◽  
Autosomal Dominant ◽  
Case Series ◽  
Amelogenesis Imperfecta ◽  
Hereditary Diseases ◽  
Enamel Defects ◽  
Dental Rehabilitation

Amelogenesis imperfecta (AI) incorporates an assemblage of hereditary diseases that involve the defective formation or calcification of enamel. Also known by varied names such as Hereditary enamel dysplasia, Hereditary brown enamel, Hereditary brown opalescent teeth, this defect is entirely ectodermal, since mesodermal components are unaffected. AI is typically characterized by generalized enamel defects in both primary and permanent dentition. The AI trait can be transmitted by either autosomal dominant, autosomal recessive, or X-linked modes of inheritance.AI has a marked impact on aesthetics, function and psychology of the patient. Early intervention and dental rehabilitation should be carried out with strong emphasis on the preventive care and strict follow up schedule. Key words: Amelogenesis imperfecta, developmental anomaly, Dental Rehabilitation

scholarly journals Study of the features of the diversity of hereditary diseases in some populations of the North Caucasus

2019 ◽  
pp. 24-46
Author(s):  
Р.А. Зинченко ◽  
В.В. Кадышев ◽  
Г.И. Ельчинова ◽  
А.В. Марахонов ◽  
Т.А. Васильева ◽  
...  
Keyword(s):  
Weighted Average ◽  
Epidemiological Studies ◽  
European Part ◽  
Hereditary Diseases ◽  
North Caucasus ◽  
Genetic Characteristics ◽  
Average Value ◽  
The North ◽  
European Part Of Russia ◽  
Different Populations

Изучены особенности распространения наследственных болезней (НБ) у населения Карачаево-Черкесской Республики (КЧР). Суммарная численность обследованной выборки - 410 368 человек, что составило более чем 86% от проживающих на территории региона. Оценена отягощенность городского и сельского населения 21 субпопуляции аутосомно-доминантной (АД), аутосомно-рецессивной (АР) и Х-сцепленной (Х-сц.) патологией. Средневзвешенное значение груза АД, АР и Х-сц. патологии у городского населения (1,46±0,08, 1,19±0,07 и 0,49±0,06, соответственно) более чем в два раза ниже, чем сельского (3,76±0,16, 2,57±0,13 и 1,34±0,13, соответственно). На основании корреляций между грузом НБ и основными популяционно-генетическими характеристиками в 21 субпопуляции предположено, что выявленная дифференциация в отягощенности населения НБ может объясняться действием эффективного дрейфа. Разнообразие выявленных НБ представлено 230 нозологическими формами: 128 АД заболеваний (954 больных из 578 семей), 73 АР болезней (718 пациентов из 589 семей) и 29 Х-сц. болезней (185 больных из 135 семей). Проведенный анализ разнообразия НБ в соответствии с частотой встречаемости показал, что 15 нозологических форм (АД, АР и Х-сц.) встретились с распространенностью чаще, чем 1:20000 населения, аккумулировав основную долю больных (50,31%, 68,66% и 65,95%, соответственно). Выявленные НБ являются частыми и для других популяций европейской части России, однако определены и различия по частоте встречаемости. Пятьдесят одно заболевание (22 с АД, 21 с АР и 8 с Х-сц. типами наследования) впервые зарегистрированы в генетико-эпидемиологических исследованиях по популяциям европейской части РФ. Большинство из них (78,43%) - редкие заболевания с распространенностью менее 1:200000. Сравнение нозологического спектра НБ в КЧР с ранее изученными популяциями европейской части РФ показал выраженную регион-специфичность и эндемичность 22 заболеваний (АД, АР и Х-сц.), которые встречаются значительно реже, либо вообще не встречаются в других популяциях РФ. The peculiarities of distribution of hereditary pathology (HP) in the population of the Karachay-Cherkess Republic (KChR). The total number of the surveyed sample is 410 368 people representing more than 86% of the population in the region. The load of AD, AR and X-linked pathology in urban and rural populations with 21 subpopulations is estimated. The weighted average value of the load of AD, AR and X-linked pathology in the urban population (1.46±0.08, 1.19±0.07 and 0.49±0.06, respectively) is more than twice lower than in the rural population (3.76±0.16, 2.57±0.13 and 1.34±0.13, respectively). Based on the correlations between the load of HP and the main population genetic characteristics in 21 subpopulations, it is assumed that the revealed differentiation in the load of HP in different populations could be explained by the effect of genetic drift. The variety of revealed HP is represented by 230 nosological forms: 128 with inheritance type AD (954 patients from 578 families), 73 with AR (718 patients from 589 families) and 29 with X-linked (185 patients from 135 families). The analysis of the diversity of HP in accordance with the frequency of diseases showed that 15 nosological forms (AD, AR and X-linked) with a prevalence of more than 1:20000 accumulate in the majority of patients (50.31%, 68.66% and 65.95%, respectively). The revealed HP are frequent for other populations of the European part of Russia, however, some peculiarities in occurrence are determined. Fifty one disease (22 with AD, 21 with AR and 8 with X-linked type of inheritance) were registered in genetic and epidemiological studies on populations of the European part of the Russia for the first time, most of which (78.43%) belong to the group of rare and identified with a prevalence of less than 1:200000. A comparative analysis of the nosological spectrum of HP with previously studied populations of the European part of the Russia showed that several HP demonstrated marked region-specificity and accumulation in the KChR - 22 diseases (AD, AR and X-linked), which are much rarer, or do not occur in other populations of the Russian Federation.

Can progression of autosomal dominant or autosomal recessive polycystic kidney disease be prevented?

2001 ◽  
Vol 21 (5) ◽  
pp. 430-440 ◽  
Author(s):  
Ira D. Davis ◽  
Katherine MacRae Dell ◽  
William E. Sweeney ◽  
Ellis D. Avner
Keyword(s):  
Kidney Disease ◽  
Polycystic Kidney Disease ◽  
Autosomal Recessive ◽  
Autosomal Dominant ◽  
Polycystic Kidney

Causes of ecosystem transformations variability in lakes of the european part of Russia and Western Siberia (diatom analysis)

2019 ◽  
pp. 79-82
Author(s):  
Lev V. Razumovsky
Keyword(s):  
Western Siberia ◽  
Graphical Analysis ◽  
European Part ◽  
Analysis Method ◽  
Climatic Region ◽  
Diatom Analysis ◽  
Lake Ecosystems ◽  
Distinctive Features ◽  
European Part Of Russia

On the basis of author's graphical analysis method, the typification of lake ecosystems transformation scenarios depending on the size of lakes was carried out. It was confirmed that the type of transformation depends not only on size of the lake, but also on the landscape and climatic region in which it is located. The distinctive features of lake ecosystems transformation types in the European part of Russia and in Western Siberia were analyzed and compared.

Аquatic and helophytic vegetation of the Yamozero Lake (The Komi Republic)

2011 ◽  
pp. 101-116 ◽  
Author(s):  
B. Yu. Teteryuk
Keyword(s):  
Eastern Europe ◽  
Plant Communities ◽  
Rare Species ◽  
Komi Republic ◽  
European Part ◽  
Regional Level ◽  
North East ◽  
The North ◽  
European Part Of Russia ◽  
Floristic Classification

The results of a sintaxonomical study of plant communities of the Yamozero lake (the North-East of the European part of Russia) are presented. The diversity of the aquatic and helophytic vegetation of the Yamozero lake consists of 16 associations and 2 communities of 6 unions, 4 orders and 2 classes of the floristic classification: Potamogetonetea (7 associations, 2 communities), Phragmito-Magnocaricetea (9 associations). Many of described associations are widely distributed in the Central and the Eastern Europe. Some associations have the boundaries of their ranges. Some communities include 2 rare species of regional level: Isoetes setacea and Sagittaria natans.

Peronosporales of Skadovsky Zvenigorod Biological Station (Moscow Region)

2018 ◽  
Vol 52 (1) ◽  
pp. 91-100
Author(s):  
E. Yu. Blagoveshchenskaya
Keyword(s):  
Downy Mildew ◽  
European Part ◽  
Moscow Region ◽  
State University ◽  
Biological Station ◽  
Annotated List ◽  
European Part Of Russia ◽  
First Time ◽  
Moscow State University

The paper provides the results of seven-year study of downy mildew on Skadovsky Zvenigorod Biological Station of Moscow State University (ZBS MSU, Moscow Region). A total of 29 species of Peronosporales (Oomycota) were revealed during the study. An annotated list of species is presented, among them Peronospora anemones is recorded for the first time for Russia, P. chelidonii and P. stachydis are new for the European part of Russia, 8 species are new for the Moscow Region.

Aquatic and helophyte vegetation of the Donty Lake (The Komi Republic)

2008 ◽  
pp. 76-85 ◽  
Author(s):  
B. Yu. Teteryuk
Keyword(s):  
Plant Communities ◽  
Rare Species ◽  
Komi Republic ◽  
European Part ◽  
Large Lake ◽  
Hydrophytic Vegetation ◽  
North East ◽  
European Part Of Russia

The results of a syntaxonomical study of plant communities of the large lake Donty (North-East of the European part of Russia) are presented. The diversity of hydrophytic vegetation has been classified into 3 classes (Lemnetea, Potametea and Phragmito-Magnocaricetea), 5 orders, 8 alliances, 20 associations and 1 community. Subasso­ciation Scolochloetum festucaceae caricetosum aquatilis is new. Communities of associations Caricetum aquatilis, Equisetetum fluviatilis, Potamo—Nupharetum luteae, Potametum perfo­liati are mostly wide distributed, while these of Phragmitetum communis, Scolochloetum festucaceae ones are relatively rare as well as Lemno—Spirodeletum polyrchizae, Elodeo—Potametum alpini, Potamo—Nupharetum pumilae, Potametum praelongi and Scirpetum lacustris are very rare. Some communities contain 2 regional rare species: Scolochloa festucacea and Ranunculus lingua.

The first record of Jaapia ochroleuca (Basidiomycota) in the European part of Russia

2013 ◽  
Vol 47 ◽  
pp. 68-73
Author(s):  
S. V. Volobuev
Keyword(s):  
Nature Reserve ◽  
First Record ◽  
European Part ◽  
European Russia ◽  
Taxonomic Position ◽  
Morphological Description ◽  
Microscopic Structure ◽  
European Part Of Russia ◽  
Distribution And Ecology ◽  
First Time

The corticioid basidiomycete Jaapia ochroleuca (Bres.) Nannf. et J. Erikss. is recorded for the first time in the European Russia from the «Bryansky Les» Nature Reserve (Bryansk Region). The taxonomic position of the species is defined briefly. Its morphological description and data on distribution and ecology are provided. The details of microscopic structure of the collected specimen are illustrated.

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