bluuebunny/crossref_metadata_2025 huggingface dataset:
ANALYSIS OF THE BEST PRACTICES FOR FORMING A DIGITAL EDUCATIONAL ENVIRONMENT IN PRESCHOOL EDUCATIONAL ORGANIZATIONS
Authors:   Lipetsk State Pedagogical University  named after P. P. Semenov-Tyan-Shansky, Fedina N.V. , Lazareva M.V. ,   Lipetsk State Pedagogical University  named after P. P. Semenov-Tyan-Shansky, Popova G.A. ,   Lipetsk State Pedagogical University  named after P. P. Semenov-Tyan-Shansky
Published: January 2023

The article contains an overview and analysis of the best practices for the formation of the digital educational environment in preschool educational organizations. In the theory and practice of preschool education, the problem of developing the theoretical and methodological foundations for the digitalization of preschool education as the first level of domestic education has matured. A number of external and internal contradictions have arisen in the formation of a digital educational environment, including the contradiction between the need for its formation and the lack of specific methodological recommendations based on scientific foundations. In this regard, it is necessary to study the best practices in the formation of the digital educational environment, analyze and summarize the existing experience. The article reviews and analyzes the experience of a number of preschool educational organizations in the Russian Federation and neighboring countries. It has been revealed that, in general, the experience of forming the digital educational environment is described in fragments, it presents some replicated digital educational technologies, individual elements of the leader’s digital constructor. The publications also reflect the experience of digital support of traditional educational technologies and the use of modern digital equipment created specifically for the cognitive development of children: interactive sandboxes, interactive floors, etc. In the practice of preschool educational organizations, the introduction of digital technologies into the educational process is associated with certain difficulties: personnel, material and technical, financial, organizational, etc. In general, in the analyzed experience, there are tendencies of humanization, democratization, axiologisation of the formation of the digital educational environment. There is a need for a comprehensive development of the theoretical foundations for creating the digital educational environment, building its holistic, consistent model.
CROWDSOURCING AS AN ELEMENT OF INTERACTIVE TEACHING OF MATHEMATICS IN THE HUMANITIES
Authors:   Bunin Yelets State University, Shcherbatykh S.V. , Artyukhina M.S. ,   National Research Lobachevsky State University  of Nizhni Novgorod (Arzamas branch)
Published: January 2023

The article reveals the key aspects of interactive teaching of mathematics in the humanities areas of training. The theoretical and methodological basis of interactive teaching of mathematics is highlighted. Interactive learning acts as a means of organizing a special space of interaction of subjects of educational activity for the construction of developing teaching of mathematics. One of the effective methods of interactive learning is crowdsourcing technology. Crowdsourcing technology is a project to solve a social and significant problem on a charitable basis, in which everyone can participate and offer a variety of solutions through network technologies. The article suggests the stages of working on a crowdsourcing project. An example of the project “Organization of an accessible environment for students with disabilities” for students in the areas of training “State and municipal direction”, “Social work” in the framework of studying the section “Analytical geometry” of the discipline “Mathematics” is presented. Special attention is paid to the mathematical component of the project on the organization of a barrier-free environment for students with disabilities (justification of the project work; drawing project; mathematical calculation using knowledge of analytical geometry; economic justification of the project). The article presents students’ projects containing geometric constructions, mathematical calculations and analysis of the calculations obtained. The conducted reflection and self-assessment showed a high level of interest in the work carried out, highlighted the importance of mathematical knowledge for solving professional problems and increased the level of involvement in the study of mathematics in non-core areas of training. Networking and interaction are a key feature of crowdsourcing technologies. Crowdsourcing allows one to organically integrate mathematical tools into a professional context.
Micronutrients' toxicity from causes to adverse effects: a review
Authors: Aljohani Areej , Alharbi Sarah , Althobaiti Ruba , Aljohani Raghad , Alnemari Razan , Arida Hassan
Published: January 2023

Micronutrients are essential elements for a good health state. However, the use of micronutrient supplements is a double-edged sword. For instance, the toxicity of micronutrients may be fatal in many cases. Meanwhile, micronutrient supplements are commonly used among children and pregnant women. Therefore, knowledge about the safety burden of micronutrient use is necessary for preventing severe events for both subgroups. However, the available data regarding micronutrient toxicity are limited. In this review, we discussed the toxicity and the adverse events of common micronutrients due to excessive intake and misuse of micronutrient supplements.
Anthropometric measurements from 6 to 12 months of age in Khartoum State, Sudan 2020
Authors: Abbas Mahasin , Ali Ibrahim , Abdalla Mazin , Musa Omer
Published: January 2023

Anthropometry is the most common technique used to indicate nutritional status and to assess the presence and degree of protein-energy malnutrition. No doubt providing the human body with the proper dietary substances, especially in early life, has a considerable effect on long-term health and development. This study aimed to provide growth references for height and weight for infants from 6 to 12 months of age in Khartoum State, Sudan. A cross-sectional study was conducted in Khartoum state on 419 infants between 6 and 12 months of age. The height and weight of these infants were measured for each month separately. This method was implemented to develop growth charts of the National Centre for Health Statistics/World Health Organisation. The mean weight and height of males included in this study were more than females. The mean height and weight of male and female infants in this study were below the reference height and weight of the same age group in the Centres for Disease Control and Prevention (CDC). This is a pilot study, which revealed a difference in height and weight of infants from 6 to 12 months of age in Khartoum State compared to a similar age group of those in the CDC. However, further larger-sized studies are needed.
Factors Affecting MSME Taxpayer Compliance: Tax Sanctions As Moderation
Authors: Fitrini Mansur  , Riski Hernando  , Eko Prasetyo
Published: January 2023

This study examines the factors that influence MSME taxpayer compliance in Jambi City, such as understanding of accounting, tax regulations and knowledge of taxation and tax sanctions. This study also examines how strong tax sanctions are in moderating the influence relationship between accounting understanding, tax regulations and tax knowledge on MSME taxpayer compliance. The population uses MSMEs in Jambi City with a sample of MSMEs engaged in the culinary sector with predetermined criteria. Thus, the participants of this study amounted to 74 respondents. The research questionnaire was distributed using a hand delivery system and processed using SEM - PLS Warp - PLS (7.0). The results of this research prove that understanding accounting has no effect on the compliance of MSME taxpayers in the culinary sector in Jambi City. Meanwhile, an understanding of tax regulations and tax sanctions can affect taxpayer compliance in the culinary sector of MSMEs in the city of Jambi directly or indirectly.
Corporate Governance In Cash Management, Net Working Capital, And Cash Holding
Authors: Henny Wirianata  , Viriany  , Ignatius Flora De Mayo
Published: January 2023

Manufacturing companies need effective cash management to meet their capital expenditures and cash holding. Effective cash management needs to be supported by good governance so that it can determine adequate cash holding. Independent variables in this study were measured by cash flow, cash conversion cycle, capital expenditure, net working capital, and board of commissioners' activities. Governance measured by the board of commissioners' activities is also a moderation variable. The data in this study were processed and analyzed using Eviews 10 for the period 2017 to 2020. The panel's data regression results show that the cash conversion cycle and net working capital have a negative influence on cash holding. Cash flow, capital expenditure, and board of commissioners' activities have no effect. The moderation regression test results show that the board of commissioners' activities could not moderate the influence of cash flow, cash conversion cycle, capital expenditure, and net working capital on cash holding.
Exposure and use of media device in early childhood
Authors: Arantes Maria do Carmo , Morais Eduardo
Published: January 2023

OBJECTIVE: This research aims to evaluate the exposure and characterize the use of media devices by children from 0 to 6 years of age treated at the pediatric unit of a Regional Hospital in the Federal District. METHODS: This is a cross-sectional, descriptive, and investigative study, conducted through an interview applied to volunteers responsible for the children. The data obtained were tabulated and treated to determine the frequencies of each studied variable. RESULTS: 102 interviews were performed, and all results were included in the study. It was found that all children surveyed used media devices daily. Approximately 83% of them started using it before 1 year of age and 17% between 1 and 2 years old. 28.4% had their own media devices. The profile on social networks was prevalent in 13% of children. 93.1% of respondents stated that they had never received guidance from pediatricians on health risks due to the excessive use of a media device. CONCLUSION: The results revealed a pattern of inappropriate use of media by the studied children, with early, frequent, and excessive use beginning. There was a vacuum in the pediatricians role in dealing with the problem related to the use of media by children in early childhood. Such findings may support the development of strategies for the prevention of toxic stress linked to the current epidemic called digital addiction.
Use of an early warning scoring system in the pediatric ward of a tertiary referral hospital
Authors: Mota Beatriz , Fonseca Adriana , Santos Anny Carolyne
Published: January 2023

OBJECTIVE: To evaluate the performance the Brighton Pediatric Early Warning Score for an early identification of clinical deterioration in children admitted to the pediatric ward of a tertiary hospital. METHODS: A prospective cohort observational study, involving 325 children with acute illnesses admitted to a pediatric ward, aged 29 days to 13 years, between August 2018 and March 2020. To assess the Brighton Pediatric Early Warning Score diagnostic accuracy, it was used the Cardiff and Vale Pediatric Early Warning System as reference, and the software used was the R Core Team 2020. The effectiveness of the Brighton Pediatric Early Warning Score was assessed using the indicators of sensitivity, specificity, positive predictive value, negative predictive value, area under the ROC curve, number of true positives and negatives and false positives and negatives. RESULTS: The Brighton Pediatric Early Warning Score showed a sensitivity of 19.2%, a specificity of 99.1%, a positive predictive value of 90.5%, a negative predictive value of 73.7%, and an area under the ROC curve of 0.839. In addition to that, for scores larger than 3, there were 19 true positives, 224 true negatives, 2 false positives and 80 false negatives. CONCLUSION: The Brighton Pediatric Early Warning Score performed well in the scenario analysis chosen by this research, showing how easy it is to use it for an early recognition of clinical deterioration in children admitted to pediatric wards.
Genital ambiguity series in a public university hospital
Authors: Luz Camila , Madeira Isabel , Gilban Daniel Luis , Bordallo Ana Paula , Solberg Paulo , Medeiros Clarice , Gazolla Fernanda , Monteiro Claudia , Carvalho Ana Carolina , Guerreiro Renata
Published: January 2023

OBJECTIVE: The presence of ambiguous genitalia is one of the presentations of disorders of sex development. It is estimated that its incidence is approximately one in 4,500-5,500 live births. The investigation and diagnosis of genital ambiguity constitute a clinical emergency due to the importance of early detection of conditions that can put the childs life at risk, such as congenital adrenal hyperplasia and malformative syndromes. METHODS: A cross-sectional observation study was carried out based on the analysis of 56 medical records of individuals referred to the Pediatric Endocrinology Sector of a public university hospital. RESULTS: The most frequent diagnosis was congenital adrenal hyperplasia in 11 cases (19.5%), followed by partial androgenic insensitivity in eight cases (14.2%), Klinefelter syndrome (five cases) and mixed gonadal dysgenesis (four cases). The average age of presentation to the service was 55 months. Family history, gestational history, gonad characteristic and treatment were also analyzed. CONCLUSION: Identifying and managing children and adolescents with genital ambiguity must be carefully conducted by a multidisciplinary team with experience in this type of approach. The repercussions of late diagnosis or inadequate management of the case are not possible to measure, but they have an impact on the way the patient relates to himself and to the society around him.
تحليل جغرافي سياسي لتأثير السكان على قوة الدولة العراقية
Authors: Yassin Dilal Jawad Kazem
Published: January 2023

يعد تحقيق أهداف الدولة وفرض الوجود تحدده عوامل شتى، يطفوا على سطحها عامل السكان ذلك العنصر البشري الموجه لأحداث التغيرات على مسرح الأحداث السياسية والاقتصادية والاجتماعية، من خلال الإحاطة بمجمل تلكم التغيرات (نمو السكاني، توزيعهم، تركيبهم العمري والنوعي والاقتصادي...الخ )، التي تفضي إلى امكانية التسلط أو التراجع وفق سياسة مخططة وممنهجة ، تجعل من ذلك العامل أما عنصر قوة او ضعف للدولة وخططها ومستقبلها. لذا فإن الالمام بهذا الجانب المهم والاحاطة بكل مجريات التغير والتأثير يمكننا معرفة مدى ما يتركه من ضرر او نفع في تمكين سياسة الدولة من فرض النفوذ والتسلط، او الخضوع والتراجع، وفق منهج تحليلي وباعتماد اسلوب احصائي دقيق.
The Significance of Market Power in the Financial Sustainability of Emerging Agricultural Cooperatives in the Central Free State of South Africa: A Resource-based View
Authors: Orlu Kingsley Nwenenda , Rambe Patient
Published: January 2023

Introduction: Despite the accessibility of institutional support mechanisms to cooperative firms in South Africa, many emerging agricultural cooperatives in the Central Free State remain underrepresented in the mainstream market, thereby undermining their long-term financial sustainability. Yet, business sustainability literature on cooperative firms foregrounds the theoretical assertion that the existence of market power significantly influences financial sustainability.
Purpose: The study set out to debunk the assertion that emerging cooperative firms in the Central Free State have market power that they can exert to increase their financial sustainability.
Methodology: Drawing on the resource-based view theory and a review of literature, the study sought to establish whether market dynamics have a direct influence on the financial sustainability of emerging agricultural cooperative firms.
Findings: The findings suggest that competition intensity and market concentration undermine the ability of the market power of cooperatives to positively predict long-term financial sustainability.
Originality: The study links various indicators of financial sustainability to market power and establishes the influence of each of them on market power—an approach underexplored in entrepreneurial literature.
Rodzinne uwarunkowania odraczania niezależności od rodziców przez młodych dorosłych
Authors: Komorowska-Pudło Marta
Published: January 2023

W artykule podjęto analizę problemu zależności dorosłych dzieci od rodziców. Celem podjętych badań było określenie, w jakim stopniu wychowywanie się w określonym środowisku rodziny pochodzenia warunkuje uzyskiwanie lub odraczanie niezależności młodych dorosłych od własnych rodziców. Przeprowadzono badania sondażowe wśród 428 dorosłych osób za pomocą Skal Oceny Rodziny Davida H. Olsona i skali jakości relacji dorosłych dzieci z rodzicami własnego autorstwa. Uzyskane dane potwierdziły założone hipotezy, że wzrastanie w zrównoważonym systemie rodzinnym pod względem spójności i elastyczności koreluje dodatnio z poczuciem niezależności psychologicznej od rodziców w dorosłości, a wychowywanie się w domach o systemach niezrównoważonych, czyli w rodzinach niezwiązanych, splątanych, sztywnych i chaotycznych, komunikujących się równocześnie w sposób mało efektywny utrudnia proces psychologicznej separacji od rodziców. Ze względu na to, że prawidłowe środowisko rodzinne warunkuje kształtowanie dojrzałości do podejmowania autonomicznych ról w dorosłości, a nieprawidłowe utrudnia nabywanie takiej dojrzałości należy wzmacniać zdolność rodziców do budowania optymalnych więzi i relacji w rodzinie, by prawidłowo kształtować trwający w całym okresie rozwojowym proces uniezależniania się od nich ich dzieci.
Nowa dziedzina „Nauki o rodzinie” – dyscyplinarne szanse rozwoju nauki i praktyki wspierania rodzin
Authors: Żukiewicz Arkadiusz
Published: January 2023

Celem artykułu jest zaprezentowanie podstawowych zagadnień dotyczących zmian prawnych w nauce polskiej. Metoda desk research była podstawową metodą wykorzystaną podczas podjętego badania. Na podstawie analizy dokumentów i źródeł powstało opracowanie obrazujące nową polską dziedzinę nauki – nauki o rodzinie. Artykuł inicjuje dyskurs na temat nauk o rodzinie. Obejmuje sferę zagadnień prawnych, administracyjnych, organizacyjnych i instytucjonalnych. Dotyka również sfery edukacji w zakresie nauk o rodzinie oraz związków tego obszaru szkolnictwa wyższego z praktyką służby oświatowo-wychowawczej i społecznej.
Substance Abuse, Social Values Change and Acceleration of Family Destabilization
Authors: Pospíšil Jiří , Olecká Ivana
Published: January 2023

Background: Substance abuse has the potential to change value orientations and affects all aspects of human life.Objectives: The text aims to show the shift in value orientations of respondents who use addictive substances compared to respondents who do not.Methodology: One-way ANOVA was used in the statistical analysis of the dependence of the values on the occurrence of abusive behaviour, with dependencies at the level of p ≤ 0.05 considered statistically significant.Results: There were statistically significant differences between the group of respondents with abstinence from each addictive substance and the group of respondents without abstinence. Substance abuse shifts pro-family values towards greater individualization and thus threatens and destabilizes the family. It strengthens community-oriented values and weakens family-oriented values.Conclusions: The transformation of the value system leads to a destabilization of family ties, which cease to be a priority. Working with values should be an opportunity for social pedagogy, social work, and all types of schools. Non-formal and informal education present particular opportunities for values education. In many cases, it is unnecessary to change the value system, but only to show the non-deviant way of fulfilling values.
Positive outcome of nonoperative management of spinal cord compression by multiple myeloma: A case report
Authors: Obame Fresnel Lutèce Ontsi , Dokponou Yao Christian Hugues , Laaguili Jawad , Mouhssani Mohamed , Saad Moussa Elmi , Asri Abad Chérif El , Gazzaz Miloudi
Published: January 2023

Background:

Spinal cord compression (SCC) is a severe consequence of multiple myeloma (MM). Surgical management is appropriate when there are spinal instability and neurological function compromise. The reversibility of peripheral neuropathy during treatment of MM has been reported in some studies after a cycle of Bortezomib (Velcade), Thalidomide, and Dexamethasone (VTD), but very rare in myeloma patients with SCC.

Case Description:

We report a case of a 58-year-old male tetraplegic secondary to cervical SCC by MM who completely recovered after 5 cycles of VTD chemotherapy without surgery.

Conclusion:

Surgical spinal cord decompression by laminectomy is known as the gold standard for treating this condition. Nevertheless, some patients can completely recover from nervous insult without surgery.
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 MATERIALISM AND FINANCIAL KNOWLEDGE ON FINANCIAL STRESS: THE ROLE OF PRESENT FATALISTIC AND MARITAL STATUS
Authors: Lutfi Lutfi , Firdaus Dimas Gita Ramadhan , Dwiyanti Elicia Aprillia , Dela Renta Yolanda
Published: January 2023

The conditions of the Covid 19 outbreak during 2019 and 2020 made some people lose their jobs or income, which resulted in increased financial pressures. This research examines the influence of present fatalistic, materialism, financial knowledge, and marital status on financial stress. Data were collected using a questionnaire. The number of samples that can be processed in the study was 484 respondents. The analysis technique used is the partial least squares structural equation modeling (PLS-SEM). The direct test results show that present fatalistic and materialism significantly increase financial stress, while financial knowledge and marital status reduce financial stress. Present fatalistic has been shown to positively mediate materialism's effect on financial stress. Meanwhile, marital status strengthens the negative influence of financial knowledge on financial pressure. It means that marital status encourages someone with good financial knowledge to use their ability to manage their finances to avoid financial stress. This study recommends to the public the importance of controlling materialistic behavior, reducing hopelessness, and increasing self-control to reduce financial pressureJEL : D12, D14.ABSTRAKKondisi wabah Covid 19 selama tahun 2019 dan 2020 membuat sebagian masyarakat kehilangan pekerjaan atau penghasilannya, yang mengakibatkan tekanan keuangan semakin meningkat. Penelitian ini menguji pengaruh fatalistik masa kini, materialisme, pengetahuan keuangan, dan status perkawinan terhadap tekanan keuangan. Pemilihan sampel didasarkan pada metode purposive sampling, dan pengumpulan data dilakukan dengan menggunakan kuesioner. Jumlah sampel yang dapat diolah adalah 484 responden. Teknik analisis yang digunakan adalah Partial Least Square Structural Equation Modeling (PLS-SEM). Hasil pengujian pengaruh langsung menunjukkan bahwa fatalistik masa kini dan materialisme secara signifikan meningkatkan tekanan keuangan, sedangkan pengetahuan keuangan dan status perkawinan mengurangi tekanan keuangan. Fatalistik masa kini terbukti secara positif memediasi pengaruh materialisme pada tekanan keuangan. Sementara itu, status perkawinan memperkuat pengaruh negatif pengetahuan keuangan terhadap tekanan keuangan. Hal ini berarti bahwa status perkawinan mendorong seseorang yang memiliki pengetahuan keuangan yang baik untuk menggunakan pengetahuan tersebut dalam mengelola keuangannya agar terhindar dari tekanan keuangan. Studi ini merekomendasikan kepada masyarakat pentingnya mengendalikan perilaku materialistis, mengurangi keputusasaan, dan meningkatkan pengendalian diri untuk mengurangi tekanan keuangan.Kata Kunci : tekanan keuangan, materialisme, pengetahuan keuangan, fatalistik masa kini, status perkawinan.
SERVICE QUALITY, SATISFACTION, CONTINUOUS USAGE INTENTION, AND PURCHASE INTENTION TOWARD FREEMIUM APPLICATIONS: THE MODERATING EFFECT OF PERCEIVED VALUE
Authors: Suryawirawan Okto Aditya , Suhermin Suhermin , Shabrie Wiwiek Srikandi
Published: January 2023

This study aimed to analyze factors that could influence continuous usage intention on freemium applications and purchase intention of premium services among students. Non-probability purposive sampling was used to determine the respondent. The criteria for the sample for this study were students who used freemium applications. Data were analyzed using Partial Least Square. The results confirmed that only reliability and responsiveness positively impacted customer satisfaction among the service quality dimensions, while assurance and empathy showed no effect. Only assurance and responsiveness were found to affect continuous usage intention positively, while empathy and reliability were found to have no effect. There was no evidence of the effect of the dimensions of service quality on purchase intention. Perceived value failed to moderate the effect of service quality on customer satisfaction. While there was a significant positive impact of customer satisfaction towards continuous usage intention, no effect has been found towards purchase intention. Continuous usage intention was confirmed to have a positive impact on purchase intention.JEL: O32, M31, L11ABSTRAKTujuan dari penelitian ini adalah untuk menganalisis faktor-faktor yang dapat mempengaruhi continuous usage intention dan purchase intention pada aplikasi yang memiliki layanan premium pada mahasiswa. Non-probability purposive sampling digunakan untuk menentukan jenis responden. Kriteria sampel pada penelitian ini adalah mahasiswa yang menggunakan aplikasi freemium. Data dianalisa menggunakan Partial Least Square. Hasil menunjukkan bahwa diantara dimensi service quality, hanya reliability dan responsiveness yang berpengaruh positif terhadap customer satisfaction sedangkan assurance dan empathy tidak berpengaruh. Hanya assurance dan responsiveness yang ditemukan berpengaruh positif terhadap continuous usage intention sedangkan empathy dan reliability ditemukan tidak berpengaruh. Seluruh dimensi service quality ditemukan tidak berpengaruh terhadap purchase intention. Perceived value tidak mampu memoderasi pengaruh service quality terhadap customer satisfaction. Customer satisfaction ditemukan berpengaruh positif terhadap continuous usage intention tetapi tidak terhadap purchase intention. Continuous usage intention ditemukan berpengaruh positif terhadap purchase intention.Kata Kunci: kualitas layanan, persepsi nilai, kepuasan, niatan
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
Who are the Older Adults’ Users or Non-Users of the Internet before the Pandemic? Analysis of the Epifloripaageing Cohort Study (2009-2019)
Authors:   Life and Health Sciences Research Institute, Medical School, University of Minho, Portugal, A Quialheiro , CR Rech ,   Post-Graduate Program in Physical Education, Federal University of Santa Catarina, Brazil, M Silvestre ,   Physiotherapy course at the State University of Santa Catarina, Brazil, AF Boing ,   Post-Graduate Program in Public Health, Federal University of Santa Catarina, Brazil, E d´Orsi ,   Post-Graduate Program in Public Health, Federal University of Santa Catarina, Brazil
Published: January 2023

Background: This ageing demographic transformation has been happening simultaneously with technological immersion, especially internet use in communication and health monitoring applications. Objective: This study’s primary aim was to characterize the Internet’s socioeconomic and demographic factors of internet users and non-users. The second aim was to analyze which factor, modifiable or not, influenced the incidence of older adults’ Internet use over time. Methods: This study was done with 722 EpiFloripa Ageing Cohort Study follow-up of older adults. The outcome is internet use according to waves 1 to 3, and the exposures are sociodemographic. It described the characteristics of internet users and non-users, and it used a longitudinal analysis model (Generalized Estimating Equations) to estimate Incidence Rate Ratios (IRR) with 95% confidence intervals. Results: Internet users were younger, with higher education and higher income than non-users over time. Most non-users of the Internet were women (54%) and white (93%), with an average of 66.4 years old and 14 years of study. Conclusion: The incidence of internet use was 11, 4% in Wave 2 and 23.0% in Wave 3 and was 80% lower in older adults 80 years and over compared to other age groups. Regarding schooling and family income, the internet use incidence was higher according to the increase in education levels and income range, except for older adults with more than 10 Brazilian minimum wages. Public policies are needed to reduce inequalities in access to the Internet and promote the digital inclusion of older adults.
Clinical Complications in Patients with SARS-CoV-2 in a Secondary Care Hospital in Tijuana, Mexico
Authors:   Department of Family Medicine, Family Medicine Unit #27, IMSS, Baja California, Mexico, SS Sanchez-Sanchez , R Ortiz-Leon ,   Department of Internal Medicine, General Regional Hospital #1, IMSS, Baja California, Mexico, CA Alvarez-Franco ,   Department of Family Medicine, Family Medicine Unit #27, IMSS, Baja California, Mexico, MA Salazar-Perfecto ,   Department of Family Medicine, Family Medicine Unit #27, IMSS, Baja California, Mexico, LA Orduño-Cabrera ,   Department of Family Medicine, Family Medicine Unit #27, IMSS, Baja California, Mexico, P Acosta-Ovalle ,   Department of Family Medicine, Family Medicine Unit #27, IMSS, Baja California, Mexico
Published: January 2023

Background: The SARS-CoV-2 has caused a social, economic and health crisis around the world. Its clinical manifestations present a variety that ranges from the absence of symptoms to the most serious forms of the disease, which require intensive care with high mortality. Objective: To analyze the clinical complications in patients with SARSCoV- 2 in the regional general hospital #1 of Tijuana, Mexico. Methods: A review of clinical records of patients with SARS-CoV-2 was carried out at regional general hospital #1 in Tijuana, Mexico, from April 2020 to April 2021. Clinical complications were identified such as Severe Acute Respiratory Syndrome (SARS), acute kidney injury, acute liver failure, heart attack, shock, myocarditis, arrhythmia, pulmonary thromboembolism, cerebrovascular event, delirium, acute meningoencephalitis, seizures, anosmia, dysgeusia, Guillain-Barré syndrome, gastrointestinal bleeding, systemic inflammatory response syndrome, depression, anxiety and confirmed death. Descriptive statistics were used, the qualitative variables were expressed in frequencies and percentages, and the quantitative variables in measures of central tendency and dispersion, the information obtained was analyzed in the statistical program SPSS version 25. Results: 722 patients were analyzed, of which 59% (n=426) were men and 41% (n=296) were women, with a median of 55 years. The most frequent occupation was employees (51%, n= 369). Of the clinical characteristics, SARS appeared in 72% (n=520), SIRS 71% (n=515), acute kidney injury in 14% (n=100) and death in 50% (n=361) of the cases. Conclusions: It is important to know all the SARS-CoV-2 complications. Patients who recover from this pathology develop sequelae of different degrees of severity.
Clinical Characteristics of Patients with COVID-19 in a Primary Care Center in Tijuana, Mexico
Authors:   Department of Family Medicine, Family Medicine Unit #27, IMSS, Baja California, Mexico, JN Lopez-Hernandez , F Ruiz-Gonzalez ,   Department of Family Medicine, Family Medicine Unit #27, IMSS, Baja California, Mexico, MA Salazar-Perfecto ,   Department of Family Medicine, Family Medicine Unit #27, IMSS, Baja California, Mexico, SI Vital-Robles ,   Department of Family Medicine, Family Medicine Unit #27, IMSS, Baja California, Mexico, MF Romanetti-Armenta ,   Department of Family Medicine, Family Medicine Unit #27, IMSS, Baja California, Mexico, LA Orduño-Cabrera ,   Department of Family Medicine, Family Medicine Unit #27, IMSS, Baja California, Mexico
Published: January 2023

Background: COVID-19 is caused by a new Coronavirus, which causes severe acute respiratory syndrome (SARS). The most at-risk population is those over 75 years and with pathologies such as obesity, diabetes mellitus, arterial hypertension, smoking, cardiovascular diseases and asthma, this condition increases the risk of death up to five times. Objective: To describe the clinical characteristics of patients with COVID-19 in the Family Medicine Unit #27 of Tijuana, Mexico. Methods: A review of the database of epidemiological studies of the FMU 27 was carried out between April to June 2020. The clinical characteristics recollected were: age, fever, cough, headache, dyspnea, arthralgia, myalgia, odynophagia, rhinorrhea, conjunctivitis, chest pain, hypertension, diabetes mellitus, obesity, smoking, Chronic Obstructive Pulmonary Disease (COPD), Asthma and chronic kidney failure. Descriptive statistics were used, the qualitative variables were expressed in frequencies and percentages, and the quantitative variables in measures of central tendency and dispersion, the information obtained was analyzed in the statistical program SPSS version 25. Results: 111 patients were analyzed, the following clinical characteristics were found: headache 102 (91.9%), fever 97 (87.4%), myalgia 93 (83.8%) and cough 90 (80.1%). The most frequent comorbidity was obesity (24.3%). Conclusions: It is important to know all the COVID-19 clinical characteristics. The knowledge of this characteristics allows us identify the disease and complications early.