The unusual properties of aggregated superpositions of Ornstein-Uhlenbeck type processes

Superpositions of Ornstein-Uhlenbeck type (supOU) processes form a rich class of stationary processes with a flexible dependence structure. The asymptotic behavior of the integrated and partial sum supOU processes can be, however, unusual. Their cumulants and moments turn out to have an unexpected rate of growth. We identify the property of fast growth of moments or cumulants as intermittency

Genome-wide analyses reveal a potential role for the MAPT, MOBP, and APOE loci in sporadic frontotemporal dementia

Frontotemporal dementia (FTD) is the second most common cause of early-onset dementia after Alzheimer disease (AD). Efforts in the field mainly focus on familial forms of disease (fFTDs), while studies of the genetic etiology of sporadic FTD (sFTD) have been less common. In the current work, we analyzed 4,685 sFTD cases and 15,308 controls looking for common genetic determinants for sFTD. We found a cluster of variants at the MAPT (rs199443; p = 2.5 × 10−12, OR = 1.27) and APOE (rs6857; p = 1.31 × 10−12, OR = 1.27) loci and a candidate locus on chromosome 3 (rs1009966; p = 2.41 × 10−8, OR = 1.16) in the intergenic region between RPSA and MOBP, contributing to increased risk for sFTD through effects on expression and/or splicing in brain cortex of functionally relevant in-cis genes at the MAPT and RPSA-MOBP loci. The association with the MAPT (H1c clade) and RPSA-MOBP loci may suggest common genetic pleiotropy across FTD and progressive supranuclear palsy (PSP) (MAPT and RPSA-MOBP loci) and across FTD, AD, Parkinson disease (PD), and cortico-basal degeneration (CBD) (MAPT locus). Our data also suggest population specificity of the risk signals, with MAPT and APOE loci associations mainly driven by Central/Nordic and Mediterranean Europeans, respectively. This study lays the foundations for future work aimed at further characterizing population-specific features of potential FTD-discriminant APOE haplotype(s) and the functional involvement and contribution of the MAPT H1c haplotype and RPSA-MOBP loci to pathogenesis of sporadic forms of FTD in brain cortex

Genome-wide analyses reveal a potential role for the MAPT, MOBP, and APOE loci in sporadic frontotemporal dementia

Frontotemporal dementia (FTD) is the second most common cause of early-onset dementia after Alzheimer disease (AD). Efforts in the field mainly focus on familial forms of disease (fFTDs), while studies of the genetic etiology of sporadic FTD (sFTD) have been less common. In the current work, we analyzed 4,685 sFTD cases and 15,308 controls looking for common genetic determinants for sFTD. We found a cluster of variants at the MAPT (rs199443; p = 2.5 × 10−12, OR = 1.27) and APOE (rs6857; p = 1.31 × 10−12, OR = 1.27) loci and a candidate locus on chromosome 3 (rs1009966; p = 2.41 × 10−8, OR = 1.16) in the intergenic region between RPSA and MOBP, contributing to increased risk for sFTD through effects on expression and/or splicing in brain cortex of functionally relevant in-cis genes at the MAPT and RPSA-MOBP loci. The association with the MAPT (H1c clade) and RPSA-MOBP loci may suggest common genetic pleiotropy across FTD and progressive supranuclear palsy (PSP) (MAPT and RPSA-MOBP loci) and across FTD, AD, Parkinson disease (PD), and cortico-basal degeneration (CBD) (MAPT locus). Our data also suggest population specificity of the risk signals, with MAPT and APOE loci associations mainly driven by Central/Nordic and Mediterranean Europeans, respectively. This study lays the foundations for future work aimed at further characterizing population-specific features of potential FTD-discriminant APOE haplotype(s) and the functional involvement and contribution of the MAPT H1c haplotype and RPSA-MOBP loci to pathogenesis of sporadic forms of FTD in brain cortex

Analysis of Phenotypic Features in a Large Cohort of Individuals with Prader-Willi syndrome: Differences between Gender, Molecular Type, Growth Hormone Exposure in Various Age Groups

Prader-Willi syndrome (PWS) is a rare and complex genetic condition. It is characterized by distinct phenotypical features, short stature and morbid obesity, growth hormone (GH) deficiency and hypogonadism. The purpose of this study (N=355 individuals) was to describe differences in PWS phenotypic features by gender, molecular PWS subtype (deletion vs. UPD), and the use of GH and sex hormone (SH) treatments. Hypotheses include 1) Individuals with deletion versus UPD have an increased frequency and more severe features, 2) Individuals treated with GH or SH have normalization of features, 3) The age at the GH or SH treatment initiation impacts the effects of treatment. Individuals with deletions were found to have more frequent incidence of features such as: flat occiput, strabismus, almond shaped eyes, etc. They also tend to be heavier and with smaller head circumferences. Individuals who were treated with GH had lower incidences of some phenotypic features such as: prominent occiput, almond shaped eyes, exotropia, etc. This study has also confirmed that PWS individuals who were treated with GH on average are taller, with lower BMIs, and longer hands and feet. Initiating GH treatment below the age 4 years also demonstrated lower incidence rate of phenotypic features such as micrognathia, slit-like eyes, abdominal fat distribution, etc.The effect of the SH treatment is less obvious and requires further investigation.The results of this study support the benefit of GH treatment for individuals diagnosed with PWS and supports the benefits of starting the GH treatment at a younger age

Social networks as an educational resource

The article deals with the problem of the use of social networks as an educational resource as a necessary aid for learning. Interest in this problem is caused by a high degree of involvement in the information space through social networks of precisely young people. The purpose of this article is to examine the problem of directly applying popular social networks in the educational process of a university. The subject of the study is social networks and their capabilities as an educational resource. The article based on the analysis of the research results revealed an educational resource of social networks. The educational resource of social networks consists of the fact that various programs and projects are being implemented through social networks, including individual trajectories of development of students based on individual educational programs. The inclusion of social networks in the educational process provides a wide popularization of cultural and national traditions, the involvement of students in creative activities, the creation of conditions for their self-education, career development. The authors of the article explore the possibilities of using modern educational technologies when social networks are included in the educational process on the examples of debates, social design, a forum, and new information technologies. In order to engage students in a virtual educational environment, a coordinator is needed, who has the necessary competencies, who own effective methods for carrying out this type of activity. The authors of the article justify the need for the direct use of social resources on the Internet in education

Influence of molecular classes and growth hormone treatment on growth and dysmorphology in Prader-Willi syndrome: A multicenter study.

Prader-Willi syndrome (PWS) is a complex genetic disorder with three molecular classes but clinical ascertainment is based on distinctive features. The prevalence of dysmorphic features was studied in 355 PWS participants (61% deletion, 36% maternal disomy [UPD], and 3% imprinting defects) from the National Institute of Health PWS Rare Diseases Clinical Research Network. The effect of growth hormone (GH) treatment on growth and dysmorphic features was compared. Among participants, upslanting palpebral fissures were seen in 23%; strabismus in 42%; abnormal dentition in 32%; small hands in 63% and small feet in 70%; hypopigmentation in 30%; striae in 32% and skin picking in 26%. Compared to those with UPD, participants with deletions were found to be heavier (p = 0.002), had smaller head circumference (HC) (p = 0.009), higher incidence of a flat occiput (p = 0.005); low-anterior hairline (p = 0.04); abnormal dentition (p = 0.009); abdominal striae (p = 0.045), nail abnormalities (p = 0.050), and fair-haired (p < 0.001). Participants in both genetic groups receiving GH were taller (p = 0.005), had larger HCs (p = 0.005), and longer hands (p = 0.049). This study suggested that PWS genetic subtypes and GH treatment can influence growth and dysmorphic features that may impact clinical diagnosis of PWS, such as stature, head shape and appearance of the eyes, nose, and genitalia