bluuebunny/crossref_metadata_2025_split huggingface dataset:
Identification of population characteristics of the decidual cells transcriptome in severe preeclampsia
Authors: А.А. Бабовская, , Е. А. Трифонова, , В. Н. Сереброва, , М. Г. Сваровская, , А. А. Зарубин, , Л. В. Рычкова, , В. А. Степанов, 
Published: January 2023

Известно, что дефекты децидуализации на ранних сроках гестации приводят к задержке роста плода, прерыванию беременности или различным акушерским осложнениям на более поздних сроках. Цель - выявление особенностей транскриптомного профиля децидуальных клеток (ДК) при тяжелой форме преэклампсии (ПЭ) у русских и бурят. Осуществлен полнотранскриптомный анализ ДК плаценты представителей двух этнических групп (русские (n=4) и буряты (n=4)). Единичные ДК были получены с использованием технологии лазерной микродиссекциии препаратов тонких окрашенных срезов. При сравнении экспрессионных профилей ДК в обследованных группах статистически значимые различия (FDR<0,05) были выявлены для 61 транскрипта. Для большей части идентифицированных дифференциально-экспрессирующихся генов (ДЭГ) была характерна гиперэкспрессия в образцах русских, но лишь 15 генов показали высокий уровень экспрессии у бурят. Полученные результаты cвидетельствуют, что в дифференциации транскриптомного профиля ДК русских и бурятских женщин с ПЭ преобладают пути системы врожденного иммунитета, сопряженные с активностью белков интерферона, что подтверждено не только функциональной аннотацией списка идентифицированных ДЭГ, но и при сетевом анализе данных.
Decidualization defects in early gestation are known to lead to fetal growth retardation, miscarriage, or various obstetric complications. The aim is to reveal the transcriptomic profile of decidual cells (DC) in severe preeclampsia in Russians and Buryats. A full-transcriptomic analysis of placenta DC was carried out in representatives of two ethnic groups (Russians (n=4) and Buryats (n=4)). Single DC were obtained using laser microdissection technology and thin stained section preparations. When comparing expression profiles of DC in the examined groups, statistically significant differences (FDR<0.05) were revealed for 61 transcripts. Most of the identified differentially expressed genes (DEGs) were characterized by overexpression in Russian samples, while only 15 genes showed a high level of expression in Buryats. The results obtained indicate that the pathways of the innate immunity system associated with the activity of interferon proteins predominate in the differentiation of the DC transcriptomic profile of Russian and Buryat women with preeclampsia, which was confirmed not only by functional annotation of the list of identified DEG genes, but also by network analysis of data.
Genotype verification of cystic fibrosis patients as a major step towards precision Orkambi therapy
Authors: В.А. Ковальская, , Т.А. Адян, , Е.И. Кондратьева, , А.В. Поляков, 
Published: January 2023

Муковисцидоз является одним из самых распространенных наследственных заболеваний не только в России, но и в мире, значительно снижающих продолжительность и качество жизни при отсутствии эффективного лечения. В эпоху таргетной терапии муковисцидоза подбор эффективного препарата базируется на установлении точного генотипа пациента. Однако далеко не всегда диагностический поиск должен завершаться при детекции двух патогенных вариантов в гене CFTR. В последнее время появляется все больше данных о, так называемых, комплексных аллелях, - присутствии двух и более вариантов нуклеотидной последовательности в цис-положении, которые могут критическим образом влиять на терапевтический ответ. Целью проведенного исследования было определение частоты комплексного аллеля p.[L467F;F508del], влияющего на эффективность терапии лумакафтором/ивакафтором (Оркамби) у российских больных муковисцидозом - гомозигот по мутации F508del.
Cystic fibrosis is one of the most common genetic diseases not only in Russia but in the world, it dramatically reduces lifespan and quality of life in the absence of effective treatment. In a time of cystic fibrosis precision therapy, the effective treatment is based on the exact genotype determination. However, the diagnostic search should not always be finished when two pathogenic variants in CFTR gene are detected. In recent years there has been an explosive growth of research studies dedicated to, so-called, complex alleles, - the presence of two or more variants in the cis-position, which may affect in a dramatic way a therapeutic response. The study was aimed to determine the frequency of a complex allele p.[L467F;F508del], that affects the response to lumacaftor/ivacaftor (Orkambi) in cystic fibrosis Russian patients, being homozygous for F508del .
Selective screening of patients with hereditary retinal degeneration to identify the target group for gene therapy with voretigene neparvovec
Authors: А.А. Степанова, , В.В. Кадышев, , О.А. Щагина, , А.В. Поляков, 
Published: January 2023

RPE65-ассоциированные ретинопатии привлекли огромное внимание благодаря успешной генной терапии. Текущее исследование направлено на оценку частоты RPE65-зависимых форм наследственной дегенерации сетчатки в РФ, а также характеристику изменений в гене RPE65 у российских больных. Из 189 неродственных больных с диагнозами при обращении пигментная дегенерация сетчатки или врожденный амавроз Лебера выявлено 11 больных наследственными дегенерациями сетчатки (НДС) с биалелльными патогенными вариантами в гене RPE65, что составило 5,8% в исследуемой выборке. Наиболее частая мутация - c.370C>T (p.Arg124*) встретилась на пяти хромосомах. Выявлено два ранее не описанных варианта c.1024T>C (p.Tyr342His), c.1340T>C (p.Leu447Pro), классифицированных как вероятно патогенные. Существенный вклад RPE65-зависимых форм НДС в РФ и возможность генной терапии этих больных, а также отсутствие мажорных мутаций и горячих экзонов в гене RPE65 доказывают необходимость молекулярно-генетической диагностики больных различными формами НДС методом массового параллельного секвенирования.
RPE65-associated retinopathies have received tremendous attention due to successful gene therapy. The current study is aimed at assessing the frequency of RPE65-dependent forms of hereditary retinal degeneration in the Russian Federation, as well as characterizing changes in the RPE65 gene in Russian patients. Of 189 unrelated patients with a referral diagnosis of RP or LCA, 11 patients with IRD with biallelic pathogenic variants in the RPE65 gene were identified, which accounted for 5.8% in the study sample. The most frequent mutation, c.370C>T (p.Arg124*), was found on five chromosomes. Two previously undescribed variants c.1024T>C (p.Tyr342His), c.1340T>C (p.Leu447Pro), classified as probably pathogenic, were identified. The significant contribution of RPE65-dependent forms of IRD to the Russian Federation and the possibility of gene therapy for these patients, as well as the absence of major mutations and hot exons in the RPE65 gene, proves the need for molecular genetic diagnosis of patients with various forms of IRD using the targeted next-generation sequencing (NGS) method.
Clinical case of congenital Sucrase-isomaltase deficiency
Authors: А.И. Побединская, 
Published: January 2023

Наследственный дефицит сахаразы-изомальтазы - вид наследственной дисахаридазной непереносимости. Гомозиготные формы данной патологии встречаются c частотой 0,02% в популяции. В статье описан клинический случай этого заболевания, выявленного врачами в Челябинской области. Предоставлены анамнез, клиническая картина, этапы диагностики, а также применяемое лечение.
Hereditary sucrase-isomaltase deficiency is a type of hereditary disaccharidase intolerance. Homozygous forms of this pathology occur with a frequency of 0.02% in the population. The article describes a clinical case of this disease, identified by doctors in the Chelyabinsk region. A complete history, stages of the patient’s diagnosis, as well as the treatment used are presented.
Investigation of VPS33A protein function in mucopolysaccharidosis-plus syndrome
Authors: Ф.Ф. Васильев, , В.М. Софронова, , Н.Р. Максимова, , Ю. Каваками, , Т. Отомо, 
Published: January 2023

Ранее нами было выявлено новое заболевание из группы наследственных болезней обмена веществ с аутосомно-рецессивным типом наследования - мукополисахаридоз-плюс синдром (МПСПС). В результате проведенного полноэкзомного секвенирования была установлена патогенная гомозиготная мутация p.R498W в гене VPS33A. Целью настоящего исследования являлось изучение влияния мутации p.R498W в гене VPS33A на уровень белка и его функции. Клеточная модель заболевания была сгенерирована методом Crispr-Cas9. Исследование активности аутофагии проводилось путем анализа различий в количестве маркера аутофагосом LC3-II между образцами в присутствии или отсутствии ингибитора лизосом бафиломицина A1. Уровень эндоцитоза был определен при исследовании деградации рецепторов EGF. Было выявлено снижение уровня белка VPS33A в клеточных линиях с мутацией p.R498W в гетерозиготном и гомозиготном состоянии до ~43% и ~25%, соответственно. Мы выявили, что мутация p.R498W не оказывает влияния на основные известные функции белка VPS33A - эндоцитоз и аутофагию. Интенсивность флуоресценции в мутантных клетках была значительно повышена в сравнении с контролем, что свидетельствовало о смещении pH лизосом в кислую сторону. Повреждение домена 2-2, в котором расположена мутация p.R498W, приводило к дисфункции белка VPS33A. Фундаментальная значимость исследования обусловлена необходимостью расшифровки механизмов развития данного заболевания с целью поиска подходов к адекватной терапии.
Previously, we identified a novel disease from the group of hereditary metabolic diseases with an autosomal-recessive type of inheritance - mucopolysaccharidosis-plus syndrome (MPSPS). Using whole exome sequencing, we revealed pathogenic homozygous mutation p.R498W in the VPS33A gene. The objective of study was to analyze the effect of the mutation in the VPS33A gene on the protein level and its function. The cellular model of the disease was generated using Crispr-Cas9 system. Determination of autophagic activity was carried out by analyzing differences in the amount of the LC3-II between samples with and without addition of lysosome inhibitor bafilomycin A1. The level of endocytosis was determined by analysis of EGFR degradation. In the present study we revealed a reduction in the level of the VPS33A protein in cell lines with heterozygous and homozygous p.R498W mutations up to ~43% and ~25%, respectively. We also found that p.R498W mutation does not affect to the main known functions of the VPS33A - endocytosis and autophagy. The fluorescence intensity in the mutant cells was significantly increased compared to the controls, which indicated a shift of lysosomal pH to the acid side. Impairment of domain 2-2 led to dysfunction of the VPS33A protein. The fundamental significance of the study is due to decipher the pathological mechanisms of disease development to find approaches to adequate therapy.
THE EFFECT OF BRAND ATTACHMENT, BRAND EXPERIENCE, AND SELF-IMAGE CONGRUENCE ON THE PURCHASE INTENTION OF LUXURY BRAND
Authors: Yuanita Asih Dewi , Marsasi Endy Gunanto 
Published: January 2023

This study empirically builds a conceptual model that describes the effects of brand attachment, self-image congruence, and brand experience on purchase intention. The focus of this research is to examine the debate over the findings of previous researchers regarding the influence of hedonic motivation and self-image congruence in attachment theory-based models using brand attachment as the central variable. The contribution of this study is to investigate the relationship between hedonic motivation and self-image congruence because, so far, no research has tested the effect of hedonic motivation on self-image congruence. Attachment theory and self-congruity theory are used to solve this problem. The sample selection used a purposive sampling strategy with the characteristics of respondents in Indonesia who had used luxury brands. The number of samples that were successfully collected and tested included 354 respondents. The hypothesis was tested using the Structural Equation Model (SEM) analysis technique. The findings confirm that hedonic motivation and self-image congruence are drivers of brand attachment and increase consumers' purchase intentions.JEL : M30, M31. ABSTRAKPenelitian ini mencoba mengembangkan model konseptual secara empiris tentang pengaruh brand attachment, self-image congruence, dan brand experience terhadap niat beli. Peneliti menemukan bahwa keterikatan merek dan keselarasan citra diri tidak optimal untuk perusahaan merek mewah, meningkatkan kemungkinan mereka memengaruhi niat beli konsumen merek mewah. Fokus penelitian ini adalah mengkaji perdebatan atas temuan peneliti sebelumnya mengenai pengaruh variabel motivasi hedonis dan keselarasan citra diri pada model berbasis teori keterikatan dan menggunakan keterikatan merek sebagai variabel inti. Penelitian ini juga menggabungkan teori keterikatan dan teori keselarasan diri untuk memecahkan masalah tersebut. Pemilihan sampel menggunakan strategi purposive sampling dengan karakteristik responden Indonesia yang pernah menggunakan merek-merek mewah. Sebanyak 354 dari 375 responden berhasil dikumpulkan dan diuji sampelnya, sekitar 21 kuesioner berisi data yang tidak memenuhi syarat. Pengujian hipotesis akan menggunakan teknik analisis SEM (Structural Equation Model). Temuan mengkonfirmasi bahwa motivasi hedonis dan keselarasan citra diri adalah pendorong keterikatan merek, dan dapat meningkatkan niat beli konsumen.Kata Kunci : keterikatan merek, kesesuaian citra diri, motivasi hedonis, pengalaman merek, niat beli
Radiological research methods in the diagnosis and treatment of patients with the parapharyngeal space tumors
Authors: Zabolotnyi D.I. , Zabolotna D.D. , Babkina T.V. , Tsvirinko I.R. , Telukha K.I. , Kizim Ya.V. , Valchyshyn S.V. 
Published: January 2023

The parapharyngeal space is a complex structure, being narrow and difficult for surgical approach. Surgical treatment is the main treatment for parapharyngeal space (PPS) tumors, it is performed on the basis of information obtained from imaging methods (computed tomography (CT) and magnetic resonance imaging (MRI)). Objective – to investigate the effectiveness of advanced visualization of radiological research methods in the diagnosis of the parapharyngeal space tumors in order to select the necessary tactics of surgical treatment. This retrospective study included 43 patients who underwent surgery for primary parapharyngeal space tumors from 2010 to 2021. 32 patients were treated in previous 10 years, 11 – patients who underwent examination and surgical treatment over the past 2 years with advanced methods of MRI and CT to select a safe surgical approach. Patients of the 2nd group underwent advanced MRI and CT studies in order to choose the correct method of surgical approach and prevent postoperative complications and recurrence. The histological conclusion in 90.1% of the operated patients confirmed the preliminary data of MRI perfusion regarding the probable histological structure of the neoplasm. Due to a comprehensive preoperative study, in 81.8% of patients in this group transoral approach was used. Our experience confirms the necessity for a thorough preoperative diagnostic procedure that should take advantage of imaging modalities (CT, MRI), especially new techniques (MRI-perfusion and diffusion weighted imaging).
Functional state of the peripheral nervous system in miners suffering from chronic lumbosacral radiculopathy of occupational origin
Authors: Basanets A.V. , Gvozdetskyi V.A. 
Published: January 2023

Exercise is a major factor in the development of occupational pathology of the connective tissue and musculoskeletal system, including chronic lumbosacral radiculopathy (LSRP), which accounts for 20% of occupational diseases in Ukraine. Some problems remain insufficiently studied despite a significant number of scientific works devoted to the study of issues of etiology, pathogenesis, features of clinical manifestations, the use of diagnostic and prophylactic measures in LSRP. The criteria for diagnosing changes in the peripheral nervous system need to be clarified and systematized by in-depth study of the functional state of the nervous apparatus in patients with LSRP of professional genesis. The research was carried out in a group of 60 miners of the main professions (coal-cutter, mining worker of a clearing pit (MWCP), drifter) suffering from LSRP. The activity of the neuromuscular apparatus was assessed according to the indices of electroneuromyography (ENMG), namely: the amplitude of the M-response during stimulation at the distal point of the right and left m. Abductor Hallucis, n. Plantar Medial, S1, S2 (mV), as well as indicators of terminal and residual latencies (ms), the speed of the impulse along the indicated nerves (m/s). It was found that the average amplitude of the M-response during stimulation at the distal point m. Abductor Hallucis, n. Plantar Medial in the MWCF group was at 6.37 mV (with a reference value of 4-5.8 mV), the average pulse conduction velocity was 38.46 m/s (with a reference value of 40.00 -50.00 m/s), it was found that most often in the group of coal-cutters (64.2%), a pathological indicator of terminal latency was recorded, while in a group of drifter, it did not go beyond the normal range in one of the surveyed miners suffering from LSRP of occupational genesis. Thus, ENMG of the long nerves of the lower extremities is a useful tool of objectifying the diagnosis of LSRP of ocupational genesis, it allows to determine the degree of impairment of the functional activity of peripheral nerves, neuromuscular synapses and the contractility of the striated muscles.
Azərbaycan Dövlət Bədən Tərbiyəsi və İdman Akademiyasının tələblərində vestibulyar aparatının funksiyalarının tədqiqi və onların təkmilləşmə üsulları
Authors: Sadiqova L. N. , Babayev N. M. , Narimanova A. F. , Sadigova V. A. 
Published: January 2023

Fiziki keyfiyyətlərin inkişaf səviyyəsini müəyyənləşdirən yüksək fiziki hazırlıq fəaliyyətin bütün sahələrində - tədris, əmək, əlbəttəki, idmanda işgörmə qabiliyyətin əsası sayılır.
Hazırda müəyyən edilmişdir ki, hər bir fiziki keyfiyyətlərin quruluşu həddindən artıq mürəkkəb olub, qabiliyyətin bu və ya digər qrupuna daxil olan komponentlər hər bir şəxsdə (fərddə) eyni olmur. Belə ki, koordinasiya qabiliyyətinin əsas komponentləri səmtləşməyə, dəqiq qavramaya, məkan fərqiliyinə, hərəkətin ritminə olan hissiyyatın qüvvə və zaman parametrlərinə, hərəki fəaliyyətin yenidən quruluşuna, eyni zamanda əzələlərin sərbəst boşalmasına, vestibulyar aparatın dayanıqlığına və müvazinətin saxlama qabiliyyətinə aiddir.
Koordinasiya qabiliyyətinin yüksək səviyyəsi – hərəki fəaliyyətin yeni növlərinin qavranması üçün əsas bünövrədir (bazadır). Hərəki fəaliyyətin, xüsusən idmanda, qavrama prosesi kifayət qədər müvəffəqiyyətlə gedir, əgər məşğul olanın yüksək inkişaf etmə qabiliyyəti varsa, o, icra etdiyi hərəkətlərlə özünü və bədənini idarə edə bilər.
Results of the development of the technology of light-weight concrete based on diatomite rocks and instrument study of its thermal conductivity
Authors: Sinitsin A. A. , Soloveva O. V. , Akhmetova I. G. , Vankov Y. V. , Zakrevskaya L. V. , Ananiev M. S. , Shakurova R. Z. 
Published: January 2023

THE PURPOSE. One of the directions of energy saving and energy efficiency improvement is the reduction of consumption of fuel and energy resources. A large amount of thermal energy is spent on heating buildings and structures during the heating season. To reduce heat losses through the building envelope, various heat-insulating materials with low thermal conductivity are used. The purpose of this research was to study the problem of developing the technology of lightweight concrete based on diatomite rocks, as well as uneven inclusions of filler from microspherical granules arising during its creation, assessing the effect of the presence of zones not occupied by microgranules on the insulating properties of the composite material, as well as determining the effect of the volume content of microspherical granules on the value of thermal conductivity.METHODS. In this work, we studied the production of lightweight structural concrete with porous aggregate synthesized from diatomite rocks of the Vladimir region, as well as the effect of the presence of zones not occupied by microgranules on the insulating properties of the composite material. RESULTS. The results showed that the distribution of microgranules in the matrix has a significant effect on the insulating properties of the composite, and the presence of voids in the material contributes to heat losses and a decrease in the thermal resistance of the material.CONCLUSION. The technology for obtaining the developed concrete does not differ from the technology for the production of high-class concrete, which allows the use of widely used concrete equipment.
Environmental characteristics of thermal utilization of waste with external and internal supply of thermal energy
Authors: Demin A. V. , Demina G. V. 
Published: January 2023

THE PURPOSE. Identification of optimal regimes for autothermal and allothermic methods of gasification of plant biomass in terms of energy parameters of generator gases, as well as determination of environmental indicators during subsequent combustion of generator gases to obtain thermal energy.METHODS. When modeling gasification processes, a nonstoichiometric model was used, based on the assumption that a chemically reacting multicomponent mixture is in a state of thermodynamic and chemical equilibrium, which corresponds to the minimum value of the isobaric-isothermal potential. When modeling the combustion of generator gas in a mixture with air, a kinetic model of a perfectly mixed flow reactor was used and the detailed mechanism of chemical interaction for the C-H-O-N-S reacting system was taken into account. The calorific value of generator gas obtained by steam gasification and external supply of thermal energy is significantly higher than the calorific value of gas obtained by internal supply of thermal energy. However, the values of the energy potential and thermochemical efficiency are very close for both types of gasification.RESULTS. For plant biomass with a given averaged elemental composition, gasification conditions are determined that increase the degree of conversion of initial materials into generator gas. In particular, for the autothermal gasification method, the maximum calculated values of the energy potential of dry ash-free generator gas and thermochemical efficiency were obtained at an excess air coefficient α ≈ 0.32. For the allothermic gasification method, the maximum calculated values of the energy potential of the generator gas and the thermochemical efficiency correspond to the gasification temperature range T ≈ 1050 -1100 K and the mass fraction of the supplied steam gH2O ≈ 0.217. To ensure these conditions, it will be necessary to supply thermal energy through combustion of ≈ 37 wt. % generator gas. Generator gas produced by the allothermic method has higher energy performance, and the negative impact on the environment during its subsequent combustion is characterized by lower specific CO and CO2 emissions in terms of a ton of reference fuel.