The numerical cultural code in the Dagestani proverbial picture of the world

This article contains a study of the numerical code in the Dagestani languages in the linguistic and cultural aspect on the basis of paremiological units as a fragment of the Dagestani language picture of the world. The relevance of this kind of research is caused by the interest in the means of presenting the quantitative aspect in relation to the content. The analysis of the defined semantic category based on the Dagestani languages seems relevant regarding the cognitive approach, which makes it possible to reveal the specificity of the linguistic representation of the category of numbers in the Dagestani languages and the national cultural components of the cultural numeric code of the linguistic picture of the world. Each Dagestani language had its own system of calculation and measurement. It was actively used to calculate animals, plants, measures of length, volume, weight, area and time. The most productive and symbolic in the paremiology of the studied languages are the first ten numerals. Words with numerical symbols represent both desirable and undesirable situations in a person's life, when there is a problem of choosing and determining one’s position. In linguoculturological aspect of particular interest are the landmarks of space and time associated with human life and its "existence" after death.peer-reviewe

Dagestan Modern Russian-Language Poetry at the Crossroads of Cultures

Russian-language literature is an objective phenomenon of the literary process, a typological, natural phenomenon, conditioned by the historical and cultural context of time. In this regard, literary Russian-language becomes a topical theoretical and literary study problem, the tradition of special study and scientific reflection. In this article, the authors studied the processes of a new literary community development based on integration experience, which has been an important factor in the development and the enrichment of Dagestan poetry for centuries. The twentieth century has become the century of conjugation for cultures. The principle of a dialogue between cultures determines the understanding of Russian-language poetry as a borderline phenomenon, whose originality is conditioned by a close interaction and a mutual influence of national cultures with Russian and foreign poetic traditions. The article reveals the causal relationship of some artistic trends in a temporal context. Arabic, Persian, Turkic, and then Russian influence formed an aesthetic system, differing by the variety of artistic expression forms. Classical Iranian stories, Sufi symbols, Russian poetry of the Silver Age were reflected here. A notable phenomenon of modern Russian-language poetry was represented by the appeal of the Dagestani authors to the East, now often through Russian and European literature. The echoes of Eastern classical poetry are revealed, which enriched the poetry of Byron, Goethe, Heine, Pushkin and which have a direct connection with the process of modern, Russian-speaking Dagestani poetry development, the influence on the definition of its directions with their inner content, pathos and pathetic. In this article a particular attention is paid to such a form of cultural, spiritual, ethical-aesthetic exchange as translation

Glu20Ter Variant in PLEC 1f Isoform Causes Limb-Girdle Muscle Dystrophy with Lung Injury

Plectinopathies are orphan diseases caused by PLEC gene mutations. PLEC is encoding the protein plectin, playing a role in linking cytoskeleton components in various tissues. In this study, we describe the clinical case of a 26-year-old patient with an early onset plectinopathy variant “limb-girdle muscle dystrophy type 2Q,” report histopathological and ultrastructural findings in m. vastus lateralis biopsy and a novel homozygous likely pathogenic variant (NM_201378.3:c.58G>T, NP_958780.1:p.Glu20Ter) in isoform 1f of the gene PLEC. The patient had an early childhood onset with retarded physical development, moderate weakness in pelvic girdle muscles, progressive weakening of limb-girdle muscles after the age of 21, pronounced atrophy of axial muscles, and hypertrophy of the gastrocnemius, deltoid, and triceps muscles, intermittent dyspnea, and no skin involvement. Findings included: non-infectious bronchiolitis and atelectasis signs, biopsy revealed myodystrophal pattern without macrophage infiltration, muscle fiber cytoskeleton disorganization resulted from the plectin loss, incomplete reparative rhabdomyogenesis, and moderate endomysial fibrosis. We have determined a novel likely pathogenic variant in PLEC 1f isoform that causes limb-girdle muscle dystrophy type 2Q and described the third case concerning an isolated myodystrophic phenotype of LGMD2Q with the likely pathogenic variant in PLEC 1f isoform. In addition, we have demonstrated the presence of severe lung injury in a patient and his siblings with the same myodystrophic phenotype and discussed the possible role of plectin deficiency in its pathogenesis

Genetic screening of an endemic mutation in the DYSF gene in an isolated, mountainous population in the Republic of Dagestan

Abstract Background Dysferlinopathy has a high prevalence in relatively isolated ethnic groups where consanguineous marriages are characteristic and/or the founder effect exists. However, the frequency of endemic mutations in most isolates has not been investigated. Methods The prevalence of the pathological DYSF gene variant (NM_003494.4); c.200_201delinsAT, p. Val67Asp (rs121908957) was investigated in an isolated Avar population in the Republic of Dagestan. Genetic screenings were conducted in a remote mountainous region characterized by a high level of consanguinity among its inhabitants. In total, 746 individuals were included in the screenings. Results This pathological DYSF gene variant causes two primary phenotypes of dysferlinopathy: limb‐girdle muscular dystrophy (LGMD) type R2 and Miyoshi muscular dystrophy type 1. Results indicated a high prevalence of the allele at 14% (95% confidence interval [CI]: 12–17; 138 out of 1518 alleles), while the allele in the homozygous state was detected in 29 cases—3.8% (CI: 2.6–5.4). The population load for dysferlinopathy was 832.3 ± 153.9 per 100,000 with an average prevalence of limb‐girdle muscular dystrophies ranging from 0.38 ± 0.38 to 5.93 ± 1.44 per 100,000. Conclusion A significant burden of the allele was due to inbreeding, as evidenced by a deficiency of heterozygotes and the Wright fixation index equal to 0.14 (CI 0.06–0.23)