Unique Clinical Features of Hereditary Gingival Fibromatosis Withelevated Expression of Human β-Defensin-2 and -3 in Gingival Epithelia

Background: Hereditary gingival fibromatosis (HGF), a rare benign oral condition, has several adverse consequences such as aesthetic changes, malocclusion, speech impediments, and abnormal dentition . H owever, relatively few studies have addressed the beneficial effects of thick gingival tissues on resisting external stimuli. Patients with HGF commonly manifest a ‘healthy’ gingiva , and the aetiology and pathogenesis of this condition remain unclear. H uman β-defensins (hBDs) are known to play a pivotal role in the clearance and killing of various microbes and contribute to maintaining a harmonious oral environment, which is currently an emerg ing research focus. We previously performed an immunohistochemi cal analysis of gingival tissues from a multigenerational family with non-syndromic HGFs (NHGF) . However , the expression pattern and localisation of hBD-2 and - 3 in patients with NHGF has not been reported. Methods: Gingival tissue was paraffin embedding, sectioned, and then the expression and localisation of hBD-2 and -3 in the gingival epithelium of patients with HGF and normal individuals were compared using immunohistochemistry (IHC) with descriptive and quantitative analysis. Results: The immunohistochemical staining showed a statistically significant increase in hBD-2 and 3 in gingiva l tissue derived from patients with HGF. Conclusion: Our current findings provide evidence to support the novel hypothesis that certain gene mutations of the HGF lead to relatively elevated expression levels of hBDs, which may be beneficial in protect ing oral tissue from external stimuli and promot ing periodontal regeneration.

Whole-genome sequencing identifies functional noncoding variation in SEMA3C that cosegregates with dyslexia in a multigenerational family

Dyslexia is a common heritable developmental disorder involving impaired reading abilities. Its genetic underpinnings are thought to be complex and heterogeneous, involving common and rare genetic variation. Multigenerational families segregating apparent monogenic forms of language-related disorders can provide useful entrypoints into biological pathways. In the present study, we performed a genome-wide linkage scan in a three-generational family in which dyslexia affects 14 of its 30 members and seems to be transmitted with an autosomal dominant pattern of inheritance. We identified a locus on chromosome 7q21.11 which cosegregated with dyslexia status, with the exception of two cases of phenocopy (LOD = 2.83). Whole-genome sequencing of key individuals enabled the assessment of coding and noncoding variation in the family. Two rare single-nucleotide variants (rs144517871 and rs143835534) within the first intron of the SEMA3C gene cosegregated with the 7q21.11 risk haplotype. In silico characterization of these two variants predicted effects on gene regulation, which we functionally validated for rs144517871 in human cell lines using luciferase reporter assays. SEMA3C encodes a secreted protein that acts as a guidance cue in several processes, including cortical neuronal migration and cellular polarization. We hypothesize that these intronic variants could have a cis-regulatory effect on SEMA3C expression, making a contribution to dyslexia susceptibility in this family.

Mauritian Joint Child Health Project: A Multigenerational Family Study Emerging from a Prospective Birth Cohort Study: Initial Alcohol-related Outcomes in the Offspring Generation

This chapter investigates parental factors in offspring alcohol involvement in the families of the Joint Child Health Project (JCHP), a longitudinal study that has followed a 1969-1970 birth cohort on the east African island nation of Mauritius since 1972. We were particularly interested in whether parent-child gender played a role in these parent-child alcohol relationships. The analytic sample included 1,147 13-24-year-old offspring of the original JCHP birth cohort. Both child-and parent-rated parental drinking norms and behaviors were associated with child alcohol use and binge drinking. Parental predictors of offspring drinking differed for daughters and sons, with daughter alcohol involvement related to both mother and father alcohol-related factors, whereas son alcohol involvement was more associated with paternal factors. These results highlight the value of longitudinal, multi-informant family studies for eludicating how familial factors combine to influence drinking behaviors of younger generations during developmental periods when drinking and high-risk drinking typically emerge.

THE IMPORTANCE OF GRANDPARENTS FOR THE THIRD GENERATION IN A MULTIGENERATIONAL FAMILY

Despite the changes in the model of a modern family, extended families are still functioning. Their role and functions are significant due to intergenerational contacts, based on interaction. The subject of the considerations undertaken in this study is the importance of the third generation in the life of the first one in the cognitive, behavioral, emotional and socio-economic spheres of a family. The grandparents’ importance for their grandchildren is related to the mutual benefit and pleasure from the presence of the closest people in life.

Marriage andfamily in the culture of the Russian peasantry of the Western Siberia in the second half of the XIX century

The purpose of the research is to trace the evolution of family and marriage relations of the Russian peasantry of the Tobolsk province, which took place in the second half of the 19th century and was influenced by Russian reforms and modernization. The article analyzes the changes that began during this period in the institutions of family and marriage, and also considers new forms of family and marriage relations that began to appear in the peasant society. The preconditions and reasons for the weakening of the institution of the family, divorces in peasant families have been analyzed, the factors of the formation of new forms of marriage and living in fornication have been considered. The role of the state in solving family problems of the peasantry as a whole during the reform period has been investigated. As a result of the research, it has been shown that as a result of the reforms and the subsequent changes in the life of the peasant population of the Tobolsk province, the influx of migrant peasants from the European part of Russia to the region, the construction of the Trans-Siberian railway and other transformations, the form of marriage and family relations among peasants changed, new types of marriage appeared, number of divorces and unmarried women increased. The scientific novelty of the research lies in the formulation of conclusions about the crisis in the post-reform period of the patriarchal model of the multigenerational family among the Russian peasantry of the Tobolsk province (as in the rest of Russia), the spread of small family forms, the growth in the number of divorces, various models of fornication, etc.