bluuebunny/crossref_metadata_2025_split huggingface dataset:
Analysis of polymorphic variants genes ESR1 и PGR in women with miscarriage
Authors: О.С. Абрамовских, , Ю.В. Логинова, 
Published: January 2023

Невынашивание беременности (НБ) - многофакторное заболевание, развитие которого обусловлено взаимодействием множества факторов, в том числе генетических, среди которых особое внимание уделяется полиморфным вариантам генов рецепторов половых гормонов (ESR1, PGR). Данные ряда научных работ по изучению ассоциации однонуклеотидных полиморфизмов (SNP) rs9340799 и rs2234693 гена ESR1 и rs10895068 гена PGR с риском развития НБ у женщин неоднозначны, что, вероятно, связано с популяционными особенностями распределения частот аллелей и генотипов указанных SNP. Данные нашего исследования направлены на изучение роли rs9340799 и rs2234693 гена ESR1 и rs10895068 гена PGR в развитии НБ у женщин, проживающих на территории г. Челябинска и Челябинской области. Материалом для исследования послужили образцы ДНК, выделенные из лейкоцитов периферической венозной крови. Анализ SNP генов проводили методом ПЦР в режиме реального времени. Установлено, что аллель С и генотип С/С rs2234693 гена ESR1 статистически значимо реже регистрируются в группе женщин, имеющих в анамнезе 3 и более прерывания беременности, в сравнении с условно здоровыми женщинами без отягощенного акушерско-гинекологического анамнеза и группой женщин с НБ. На основе полученных данных можно предположить вероятное протективное действие аллеля С и генотипа С/С rs2234693 гена ESR1 в отношение риска развития привычного НБ.
Miscarriage is a multifactorial disease, the development of which is caused by the interaction of many factors, including genetic ones, among which special attention is paid to polymorphic variants of sex hormone receptor genes (ESR1, PGR). The data of a number of scientific papers on the association of single nucleotide polymorphisms rs9340799 and rs2234693 of the ESR1 gene and rs10895068 of the PGR gene with the risk of miscarriage in women are ambiguous, which is probably due to population characteristics of the frequency distribution alleles and genotypes of the indicated SNPs. The data of our study are aimed at studying the role of rs9340799 and rs2234693 of the ESR1 gene and rs10895068 of the PGR gene in the development of miscarriage in women living in the city of Chelyabinsk and the Chelyabinsk region. The material for the study was DNA samples isolated from peripheral venous blood leukocytes. The analysis of single nucleotide gene polymorphisms was carried out by real-time PCR. It was found that the C allele and the C/C genotype rs2234693 of the ESR1 gene is significantly more often registered in the group of women with a history of up to 2 abortions, as well as in the group of apparently healthy women without a burdened obstetric and gynecological history. Based on the data obtained, it can be assumed that the C allele and the C/C genotype rs2234693 of the ESR1 gene have a probable protective effect on the risk of recurrent miscarriage.
Comparative characteristics of cytokine gene polymorphism in children with different variants of bronchial asthma
Authors: М.А. Малинчик, , М.В. Смольникова, 
Published: January 2023

Бронхиальная астма - гетерогенное воспалительное заболевание легких мультифакториальной природы, связанное с дисбалансом между провоспалительными и противовоспалительными цитокинами и характеризующееся генетической детерминированностью. Большая часть больных тяжелой астмой относится к T2-эндотипу и имеет эозинофильное воспаление в слизистой нижних дыхательных путей. Цель исследования - проанализировать распределение генотипов IL4 rs2243250, IL5 rs2069812, IL13 rs1800925 у детей с различными фенотипами бронхиальной астмы. Генотипирование полиморфизмов проводили методом РТ-ПЦР. В ходе исследования показано, что частота генотипа TT и аллеля T rs1800925 IL13 значимо выше у больных с эозинофильным фенотипом астмы по сравнению с контрольной группой здоровых детей (p<0,05).
Asthma is a complex,multifactorial and heterogenic inflammatory disease of the airways, associated withan imbalance between pro-inflammatory and anti-inflammatory cytokines and characterized by genetic determinism. Most patients with severe asthma are classified as T2-endotypeand have eosinophilic inflammation in the mucosa of the lower respiratory tract. The aim of the study was to analyze the distribution of genotypes IL4 rs2243250, IL5 rs2069812, IL13 rs1800925 in children with different phenotypes of bronchial asthma. Genotyping of polymorphisms was performedusing RT-PCR. The frequency of the TT genotype and the T allele rs1800925 IL13 has been shown to be significantly higher in patients with the eosinophilic asthma phenotype compared with a control group of healthy children (p<0,05).
Molecular-genetic analysis of Rubinstein-Taybi syndrome in Russia
Authors: О.Р. Исмагилова, , Т.А. Адян, , Т.С. Бескоровайная, , А.В. Поляков, 
Published: January 2023

Синдром Рубинштейна-Тейби (СРТ) - редкая наследственная патология, характеризующаяся умственной отсталостью и задержкой физического развития в сочетании с определённым комплексом внешних проявлений и аномалиями различных органов и систем. Диагностический алгоритм нацелен на поиск мутаций в двух основных генах: CREBBP и EP300, обнаруживаемых примерно в 60% клинически определённых случаев СРТ. В настоящей работе представлены результаты молекулярно-генетического анализа выборки российских пациентов с СРТ. Несмотря на то, что около 40% пациентов не получают подтверждения клинического диагноза, существуют перспективы для более глубокого понимания патогенеза заболевания и усовершенствования принципов диагностики.
Rubinstein-Taybi syndrome (RTS) - rare hereditary disorder characterized by intellectual disability and growth retardation in conjunction with specific craniofacial and skeletal features and a wide range of multiple congenital anomalies. To date, mutations in two genes: CREBBP and EP300 can be discovered in about 60% of clinically identified patients with RTS. We herein report the result of molecular analysis in a cohort of Russian RTS patients. Despite the fact that we cannot confirm the diagnosis of RTS in 40% of causes, there are possibility for a better understanding of causative molecular mechanisms and improving the diagnostic process.
Spastic paraplegia type 47 in Russian patients
Authors: В.А. Кадникова, , Г.Е. Руденская, , О.Л. Шатохина, , Д.М. Гусева, , О.П. Рыжкова, 
Published: January 2023

Гомозиготные и компаунд-гетерозиготные мутации в гене AP4B1 приводят к спастической параплегии SPG47. Для неё характерны микроцефалия, гипоплазия мозолистого тела, неонатальная мышечная гипотония, сменяющаяся спастичностью, а также тяжелая умственная отсталость. Повторяющийся вариант c.1160_1161del был выявлен у шести пациентов из неродственных неинбредных семей. Был проведен анализ гаплотипов гена AP4B1 у четырех из шести больных на хромосомах с этой мутацией, в результате чего не выявлено единственного гаплотипа, сцепленного с данным вариантом. Таким образом, он может быть, как горячей точкой, так и распространиться в результате эффекта основателя.
The reason of SPG47 is homozygous and compound-heterozygous mutations in AP4B1 gene. SPG47 is characterized by microcephaly, corpus callosum hypoplasia, neonatal muscular hypotension, followed by spasticity and severe mental retardation. Variant c.1160_1161del was identified in six patients from unrelated, non-consanguineous families. Was performed haplotype analysis AP4B1 gene for four from six patients on chromosomes with this variant. As a result, there wasn’t found the only haplotype linked to this variant. Therefore, this variant can be a “hot spot” mutation, or could have spread as a result the founder effect.
Investigando a articulação entre objetos de aprendizagem, história da matemática e formação de professores por meio de levantamentos bibliográficos em plataformas nacionais e internacionais
Authors: Oliveira Gisele Pereira , Pereira Ana Carolina Costa 
Published: January 2023

Esse artigo objetiva conhecer o cenário de investigação promovido pela articulação entre Tecnologias Digitais da Informação e Comunicação (TDIC), como Objetos de Aprendizagem (OA), História da Matemática (HM) e Formação de Professores, em plataformas bibliográficas de natureza nacional e internacional. Entre os ambientes pesquisados nacionalmente, identificamos a Biblioteca Digital Brasileira de Teses e Dissertações (BDTD) e o Catálogo de Teses e Dissertações da Coordenação de Aperfeiçoamento de Pessoal de Nível Superior (CAPES), já os ambientes de natureza internacional, foram o Networked Digital Library of Theses and Dissertations (NDLTD) e JSTOR. O levantamento foi mediado através da pesquisa com o uso de determinadas palavras-chave/ descritores de busca, usando conectivos booleanos de interseção e critérios para refinamento. O percurso metodológico foi delineado a partir da primeira fase da metodologia Engenharia Didática, intitulada por Análises Preliminares, caracterizada pela realização de levantamentos bibliográficos que forneceram informações quanto a um determinado contexto de pesquisa. Entre os resultados, no filtro temporal de 2016 a 2022, coletamos dentre os critérios de tratar obrigatoriamente de OA e contemplar mais um dos outros dois descritores pontuados, de um total de 20.841 sem repetição de materiais e sem reduções por critérios, já com refinamentos obtemos 1.773 e, após análises previamente determinadas selecionamos cinco materiais, sendo quatro dissertações e uma tese, que se adequavam as orientações. Desses cinco, todos faziam parte da esfera nacional, pois internacionalmente não foram encontrados nenhum que se adequasse. Por fim, observamos uma fragilidade de discussões científicas em relação a estudos que articulem as tecnologias de OA com a história da Matemática e a Formação de professores de Matemática no âmbito nacional e internacional.
MUTU FISIK BEBERAPA SEGMEN BERAS: SUBSIDI, NON-SUBSIDI DAN IMPOR
Authors: Munarso S Joni , Kailaku Sari Intan , Indriyani Rita 
Published: January 2023

<p>Indonesia merupakan salah satu negara dengan konsumsi beras tinggi, diikuti pertumbuhan penduduk yang tinggi, sehingga beras menjadi komoditas strategis yang sangat menentukan ketahanan pangan nasional. Kualitas dan harga beras selalu ditinjau kembali untuk melindungi hak konsumen. Peraturan Menteri Pertanian RI Nomor 31 Tahun 2017 memutuskan tentang Kelas Mutu Beras dengan dasar perubahan Standar Nasional Indonesia 6128 tahun 2015 tentang Beras. Tujuan dari penelitian adalah mengkaji mutu fisik dari beberapa jenis beras menggunakan standar Permentan 31/2017 dan SNI 6128:2015. Sampel yang digunakan terdiri dari 3 (tiga) jenis beras, yaitu beras bersubsidi Pemerintah (Beras sejahtera, dua sampel), beras non-subsidi yang umum dikonsumsi masyarakat (varietas Ciherang, dua sampel), dan beras impor (asal Jepang, satu sampel). Karakteristik fisik yang diamati antara lain derajat sosoh, butir kepala, butir patah, butir menir, butir merah, butir kuning, butir kapur, butir gabah dan benda asing, ukuran dan bentuk butir, derajat putih dan <em>translucency</em>. Pemilihan sampel beras mewakili tiga segmen konsumen dan kelompok harga yang berbeda, yaitu harga tinggi (konsumen menengah ke atas), harga menengah (konsumen menengah) dan harga rendah (penerima bantuan dari program Beras Sejahtera). Parameter yang diamati ditentukan berdasarkan SNI 6128:2015 dan Permentan 31/2017. Hasil pengujian dianalisis dengan statistik deskriptif. Nilai rataan mutu fisik kemudian diklasifikasikan untuk menentukan kelas mutu beras. Berdasarkan hasil analisis mutu fisik, beras impor dan beras non-subsidi yang diambil dari Sumedang memiliki kelas mutu Premium, Beras non-subsidi yang diperoleh dari Karawang umumnya memiliki mutu Medium (Permentan 31/2017) atau Medium 1 (SNI 6128:2015), sedangkan beras bersubsidi hampir seluruhnya tidak memenuhi syarat berdasarkan kedua standar.</p>
KARAKTERISTIK FISIKOKIMIA DAN ANTIOKSIDAN KRIM LULUR KOMBINASI BUBUR RUMPUT LAUT MERAH (Eucheuma cottonii) DAN COKELAT (Sargassum sp.)
Authors: Nurjanah Nurjanah , Ramli Rahayu Listiana , Jacoeb Agoes Mardino , Seulalae Anggrei Viona 
Published: January 2023

<p>Rumput laut <em>Eucheuma cottonii</em> dan <em>Sargassum</em> sp. memiliki potensi sebagai bahan baku pembuatan krim lulur. Rumput laut ini mengandung senyawa bioaktif yang dapat dimanfaatkan sebagai sumber antioksidan serta hidrokoloid sebagai pengental. Penelitian ini bertujuan untuk menentukan rasio terbaik kombinasi bubur rumput laut <em>Euchema cottonii</em> dan <em>Sargassum</em> sp. sebagai bahan baku krim lulur melalui pengujian kadar air, pH, viskositas, dan aktivitas antioksidan. Penelitian ini terdiri dari dua tahapan yaitu, preparasi bubur rumput laut dan pembuatan krim lulur menggunakan tiga perlakuan yaitu, kombinasi bubur rumput laut <em>E. cottonii</em> dan <em>Sargassum</em> sp 1:1, 1:2, dan 2:1. Analisis data menggunakan rancangan acak lengkap dengan uji non parametrik <em>Kruskal Wallis</em>. Pengujian dilakukan sebanyak dua kali ulangan. Hasil penelitian menunjukkan rasio bubur rumput laut terbaik pada kombinasi 1:1 dengan nilai IC<sub>50 </sub>sebesar 116,53 ppm; pH 6,64; viskositas 7.541,67 cP; dan kadar air 94,72%. Analisis fitokimia bubur rumput laut jenis <em>E. cottonii</em> mengandung alkaloid dan fenol hidroquinon, sedangkan jenis <em>Sargassum</em> sp. mengandung flavonoid, tanin, fenol hidroquinon, dan steroid. Karakteristik krim lulur dengan penambahan bubur rumput laut kombinasi 1:1memiliki nilai pH 6,64 serta nilai IC<sub>50 </sub>sebesar 284,41 ppm. Penerimaan panelis terhadap krim lulur dengan penambahan bubur rumput laut yaitu netral hingga suka.</p>
Dysnatremia in Traumatic Brain Injury and its Association with Outcome
Authors: Bishokarma S. , Thapa U. , Thapa M. , Singh A. K. , Gurung S. , Aryal B. , Maharjan A. M. S. , Lakshmipathy G. 
Published: January 2023

Background Traumatic brain injury on its own results in significant mortality and morbidity but it also contributes to complications that manifest as dysnatremia in the majority of cases.
Objective The objective of this study is to assess the association of hyponatremia and hypernatremia with the severity of traumatic brain injury and its impact on mortality.
Method This is a retrospective, descriptive, and analytic study conducted during a 1-year period from March 2018 to March 2019. The study population was selected from the patients presenting to the emergency department with TBI in the Upendra Devkota Memorial National Institute of Neurological and Allied Sciences, Bansbari, Kathmandu, Nepal. All the patients that fulfilled the inclusion criteria of age were enrolled in the study. Patients with known renal disease due to the higher incidence of electrolyte disbalance were excluded. Association of outcome with hyponatremia and hypernatremia were sought using chi-square, fisher exact test and independent t test using SPSS ver 20.
Result Over a period of 1 year, 367 patients with traumatic brain injuries were treated in our hospital. Hyponatremia was seen among 55 patients (14.9%) and hypernatremia was seen among 22 patients (5.99%). The age range of patients included in the study was 16 to 87 with a mean age of 37.96 ± 16.512 years. The male to female ratio was calculated as 3.2:1. Mild, moderate, and severe head injuries were 286 (77.9%), 37 (10.1%), and 44 (12%) respectively. Surgical intervention was performed among 77(21%) individuals. Our series showed an association between the severity of traumatic brain injury and hyponatremia however didn’t show an association between the severity of traumatic brain injury and the development of hypernatremia.
Conclusion We concluded that the severity of head injury is associated with severity of hyponatremia but not with severity of hypernatremia. Similarly, a strong association existed between the severity of hypernatremia and outcome of patients. However, such association was not seen with hyponatremia.
Linguistic Interference in Reading Stroop Card
Authors: Upadhayay N. , Guragain S. , Khadka P. 
Published: January 2023

Background The Stroop test is a gold-standard cognitive function test that assesses selective attention. There are discrepancies of having language interaction in bilingual individuals on stroop test.
Objective To assess selective attention of Nepalese in Nepali and English versions of stroop test and investigating gender differences in it.
Method The study includes male (n 33) and female (n 33) of age 20-40 years. Their first home language is Nepali. The comparison of congruent and incongruent reaction time (selective attention) between two test versions was analyzed by Paired t-test. Gender differences on selective attention were analyzed by Independent sample t-test. Data are expressed as mean ± SD, p < 0.05.
Result The congruent time in Nepali test (47.34 ± 9.23) was higher than English (42.21 ± 10.17) test. The selective attention in Nepali (113.11 ± 24.04) was significantly better (low latency) than English version (119.67 ± 28.81) of the test. Female outperformed male in selective attention on both the versions.
Conclusion Orthographically and phonologically dissimilar languages affect the reaction time of bilingual individuals. Nepali stroop test can be a valid tool in assessing selective attention on Nepalese population. Females outperform males on selective attention as assessed by stroop test.
Telerehabilitation Implementation: Perspectives from Physiotherapists Working in Complex Care
Authors: O’Neil Jennifer , van Ierssel Jacquie , King Judy , Sveistrup Heidi 
Published: January 2023

Purpose: The COVID-19 pandemic resulted in a rapid change in ways clinicians deliver physiotherapy services, leading to an important uprise in telerehabilitation implementation. Sharing the experiences of physiotherapists in clinically adopting this technology during this initial wave of the pandemic can influence future implementation. This mixed-method study aimed to identify the barriers and new facilitators of telerehabilitation clinical implementation. Method: Canadian physiotherapists with and without telerehabilitation experience, working in various clinical settings, were recruited during the first wave of the COVID-19 pandemic. Participants completed the Assessing Determinants of Prospective Uptake of Virtual Reality instrument (ADOPT-VR) adapted for telerehabilitation and participated in online focus groups to explore their experiences with telerehabilitation implementation. Demographic data and ADOPT-VR responses were analyzed descriptively. Qualitative data were analyzed using content analysis. Results: Sixteen physiotherapists completed the study. Scores on the Likert scale showed that physiotherapists enjoyed telerehabilitation (7.5/10) and perceived it as being useful (7.3/10). Physiotherapists disagreed with the necessity to use only minimal mental efforts (4.4/10) and feeling familiar with the evidence (4.7/10). Limited access to telerehabilitation implementation evidence, a reduced hands-on approach, and a lack of validated remote assessments were reported as barriers. Clinical practice guidelines, validated remote neurological assessments, changes in physiotherapy curriculum, and policy-making are critical to improving telerehabilitation implementation within physiotherapy practices. Conclusions: Participants positively experienced the quick use of telerehabilitation from the beginning of the COVID-19 pandemic, but some important barriers remain.
THE SET OF INCOMPLETE SUMS OF THE MODIFIED GUTHRIE-NYMANN SERIES
Authors: Pratsiovytyi M. , Karvatsky D. 
Published: January 2023

In this paper we study topological and metric properties of the set of incomplete sums for positive series $\sum {a_k}$, where $a_{2n-1}=3/4^n+3/4^{in}$ and $a_{2n}=2/4^n+2/4^{in}$, $n \in N$. The series depends on positive integer parameter $i \geq 2$ and it is some perturbation of the known Guthrie-Nymann series. We prove that the set of incomplete sums of this series is a Cantorval (which is a specific union of a perfect nowhere dense set of zero Lebesgue measure and an infinite union of intervals), and its Lebesgue measure is given by formula: $\lambda(X^+_i)=1+\frac{1}{4^i-3}.$ The main idea of ??proving the theorem is based on the well-known Kakey theorem, the closedness of sets of incomplete sums of the series and the density of the set everywhere in a certain segment. The work provides a full justification of the facts for the case $i=2$. To justify the main facts, the ratio between the members and the remainders of the series is used. For $i=2$ we have $r_0=\sum {a_k}=2$, $a_{2n}-r_{2n}= \frac{1}{3} \cdot \frac{1}{4^n} + \frac{5}{3} \cdot \frac{1}{16^n}$ $r_{2n-1}-a_{2n-1}= \frac{2}{3} \cdot \frac{ 1}{4^n}-\frac{2}{3} \cdot \frac{1}{16^n}$. The relevance of the study of the object is dictated by the problems of the geometry of numerical series, fractal analysis and fractal geometry of one-dimensional objects and the theory of infinite Bernoulli convolutions, one of the problems of which is the problem of the singularity of the convolution of two singular distributions.
Literature Review Faktor yang Mempengaruhi Pneumonia Aspirasi pada Pasien Stroke dengan Disfagia
Authors: Patmah Patmah , Mariana Evi Risa , Purwati Ningsih Endang Sri 
Published: January 2023

Komplikasi penyakit stroke menjadi penyebab terbesar prevalensi kematian di suatu negara. Secara global sekitar 60% penderita stroke berisiko tinggi mengalami komplikasi seperti disfagia dan pneumonia aspirasi. Tujuan penelitian ini adalah untuk mengetahui lebih dalam lagi faktor yang mempengaruhi pneumonia aspirasi pada pasien stroke dengan disfagia melalui literatur. Dari pencarian literatur, terdapat 5 artikel yang memenuhi kriteria dari 3 database yaitu ScienceDirect, PubMed, dan Google Scholar. Protokol dan evaluasi literatur menggunakan JBI (Joanna Briggs Institute) Critical Appraisal Checklist. Berdasarkan dari 5 artikel, didapatkan hasil analisis yaitu 3 faktor yang mempengaruhi. Pertama, faktor komorbiditas; infark miokard, gagal jantung kongestif, penyakit pembuluh darah perifer dan aneurisma, stroke iskemik, demensia, penyakit paru obstruktif kronis, Diabetes dengan kerusakan organ, serta tumor padat metastatik. Kedua, faktor jenis stroke iskemik (infark serebral dan leukoaraiosis (materi putih), dan yang ketiga faktor pemasangan alat medis khususnya nasogastric tube dalam jangka waktu yang lama. Diharapkan dari hasil penelitian literatur ini dapat lebih meningkatkan caring, pengetahuan tentang stroke yang berhubungan dengan pneumonia aspirasi dan disfagia oleh perawat yang difasilitasi oleh institusi pelayanan dan dipersiapkan oleh institusi pendidikan serta dari keluarga sebagai support system pasien.