Functional study of a novel missense single-nucleotide variant of NUP107 in two daughters of Mexican origin with premature ovarian insufficiency.

BackgroundHypergonadotropic hypogonadism (HH) is a genetically heterogeneous disorder that usually presents with amenorrhea, atrophic ovaries, and low estrogen. Most cases of HH are idiopathic and nonsyndromic. Nucleoporin 107 (NUP107), a protein involved in transport between cytoplasm and nucleus with putative roles in meiosis/mitosis progression, was recently implicated as a cause of HH. We identified a NUP107 genetic variant in a nonconsanguineous family with two sisters affected with primary amenorrhea and HH, and generated a mouse model that carried the human variant.MethodsWe performed a high-resolution X-chromosome microarray and whole exome sequencing on parents and two sisters with HH to identify pathogenic variants. We generated a mouse model of candidate NUP107 variant using CRISPR/Cas9.ResultsWhole exome sequencing identified a novel and rare missense variant in the NUP107 gene (c.1063C>T, p.R355C) in both sisters with HH. In order to determine functional significance of this variant, we used CRISPR/Cas9 to introduce the human variant into the mouse genome. Mice with the homolog of the R355C variant, as well as the nine base pairs deletion in Nup107 had female subfertility.ConclusionsOur findings indicate that NUP107 R355C variant falls in the category of variant of unknown significance as the cause of HH and infertility

Features of the Application Ofproject Technologies In History Lessons

У статті розглядаються основні проблеми проектного навчання дітей в Україні. На основі вивчених джерел розкрито зміст понять «метод», «проект» та «проектні технології». Обґрунтовано особливості методу проектів під час навчання історії та його використання в практиці вчителя загальноосвітньої школи.In the article described basic problems of project education of children in Ukraine. Based on the investigated sources the meaning of "method", "project" and "project education ". Grounded features an inclusive approach in the teaching of history and its use in the practice of secondary school teachers

Pulse-driven near-resonant quantum adiabatic dynamics: lifting of quasi-degeneracy

We study the quantum dynamics of a two-level system driven by a pulse that starts near-resonant for small amplitudes, yielding nonadiabatic evolution, and induces an adiabatic evolution for larger amplitudes. This problem is analyzed in terms of lifting of degeneracy for rising amplitudes. It is solved exactly for the case of linear and exponential rising. Approximate solutions are given in the case of power law rising. This allows us to determine approximative formulas for the lineshape of resonant excitation by various forms of pulses such as truncated trig-pulses. We also analyze and explain the various superpositions of states that can be obtained by the Half Stark Chirped Rapid Adiabatic Passage (Half-SCRAP) process.Comment: 21 pages, 12 figure

POTENTIAL OF COMPUTED TOMOGRAPHY IN THE DIAGNOSTICS OF THE LACRIMAL GLAND EPITHELIAL TUMORS

Objective. Discussion of the X-ray data in patients with epithelial tumors of the lacrimal gland.Material and methods. We examined CT scans of 20 patients with  lacrimal gland epithelial tumors (20 orbits). Pleomorphic adenoma  was diagnosed in 9 patients, pleomorphic adenocarcinoma was  diagnosed in 11 patients. The computed tomogtaphy was performed  according to the standard method with obtaining axial and frontal  slices. The slicethickness was 1.0 mm, sliceinterval – 1.0 mm.Results. The article presents data on the structure of lacrimal gland  epithelial tumors, considering their volume, dimension and density.  Based on the investigation results, the criteria for the differential diagnosis between pleomorphic adenoma and  adenocarcinoma have been established.Conclusion. Computed tomography is an essential diagnostic technique for a suspected lacrimal gland tumor.  Pleomorphic adenocarcinoma is characterized by a greater density  and more heterogeneous structure compared to pleomorphic  adenoma. Nearly 3/4 of patients with pleomorphic adenocarcinoma  present changes in their orbital walls. The pleomorphic adenoma  can’t be ruled out in patients with the thinning of the orbital wall

Features of the Formation of Subject Competencies at the Lessons of the History of Ukraine

У статті розглядаються основні особливості формування предметних компетентностей на уроках історії України. На основі вивчених джерел розкрито зміст понять «компетентність» та «компетентнісний підхід». Обґрунтовано особливості методу формування предметних копетентностей на уроках історії України в загальноосвітній школі.In the article described basic of subject competencies at the lessons of the history of Ukraine. Based on the investigated sources the meaning of «competence approach « and «competence». Grounded features an method of formation of subjective competencies at the lessons of the history of Ukraine in the general education school are grounded

Lexical combinability of adjectives and nouns expressing elements of appraisal

The present article aims to examine and analyze the nature of lexical combinability in the English language, namely collocates expressing elements of appraisal found in authentic online news article

Burnishing tool actuators and their influence on the burnishing force components

The article presents the results of studies on measuring components of force of diamond burnishing of surfaces with variable radius of curvature. The impact of structural elements of burnishing tools of different types on components of burnishing force was analyzed. The impact of different actuators of burnishing tools on components of burnishing force was analyzed. The design of the burnishing tool with an air receiver (bellows with compressed air as an actuator) with a parallelogram-type mounting of the indenter on the four flat posts, which ensures burnishing of profiled and other types of surfaces with constant radial force, was proposed

Non-language factors and language evolution

This paper is devoted to the description of the functioning and development of the language system seen in correlation with the influence of non-language factor

Features of Teaching Russian as a Foreign Language Using the Multimedia Platform Padlet

Авторами статьи рассматривается использование мультимедийной платформы Padlet в процессе обучения китайских студентов русскому языку как иностранному. Исследование подчеркивает актуальность интеграции инновационных технологий в образовательный процесс и анализирует эффективность Padlet как инструмента для повышения вовлеченности студентов и улучшения их коммуникативных навыков, а также межкультурного общения.The authors of the article consider the use of the Padlet multimedia platform in the process of teaching Chinese students Russian as a foreign language. The study highlights the relevance of integrating innovative technologies into the educational process and analyzes the effectiveness of Padlet as a tool to increase student engagement and improve their communication skills, as well as intercultural communication