bluuebunny/crossref_metadata_2025_split huggingface dataset:
Identification of molecular signatures and pathways involved in Rett syndrome using a multi-omics approach
Authors: Pascual-Alonso Ainhoa , Xiol Clara , Smirnov Dmitrii , Kopajtich Robert , Prokisch Holger , Armstrong# Judith 
Published: January 2023

Abstract

Background
Rett syndrome (RTT) is a neurodevelopmental disorder mainly caused by mutations in the methyl-CpG-binding protein 2 gene (MECP2). MeCP2 is a multifunctional protein involved in many cellular processes, but the mechanisms by which its dysfunction causes disease are not fully understood. The duplication of MECP2 is the cause of a different disorder, MECP2 duplication syndrome (MDS), indicating that its dosage must be tightly regulated for proper cellular function. Moreover, there are patients with a remarkable phenotypic overlap with RTT and mutations in genes other than MECP2 (RTT-like), suggesting they could be involved in similar cellular functions. The purpose of this study was to characterize the molecular alterations in patients with RTT in order to identify potential biomarkers or therapeutic targets for this disorder.
Methods
We used a combination of transcriptomics (RNAseq) and proteomics (TMT-mass spectrometry) to characterize the expression patterns in fibroblast cell lines from 22 patients with RTT and detected mutation in MECP2, 15 patients with MDS, 12 patients with RTT-like phenotypes and 13 healthy controls. Transcriptomics and proteomics data were used to identify differentially expressed genes both at RNA and protein levels, which were further inspected via enrichment and upstream regulator analyses and compared to find shared features in patients with RTT.
Results
We identified molecular alterations in cellular functions and pathways that may contribute to the disease phenotype in patients with RTT,such as deregulated cytoskeletal components, vesicular transport elements, ribosomal subunits and mRNA processsing machinery. We also compared RTT expression profiles with those of MDS seeking changes in opposite directions that could lead to the identification of MeCP2 direct targets. Some of the deregulated transcripts and proteins were consistently affected in patients with RTT-like phenotypes, revealing potentially relevant molecular processes in patients with overlapping traits and different genetic aetiology.
Conclusions
The integration of data in a multi-omic analysis has helped to interpret the molecular consequences of MECP2 dysfunction, contributing to the characterisation of the molecular landscape in patients with RTT. The comparison with MDS provides knowledge of MeCP2 direct targets, whilst the correlation with RTT-like phenotypes highlights processes potentially contributing to the pathomechanism leading these disorders.
The evolution of information donation: a targeted comparison between marmosets and squirrel monkeys
Authors: Sehner Sandro , Willems Erik P. , Baumeyer Adrian , Davis Leyla , Schaik Carel P. van , Burkart Judith M. 
Published: January 2023

Abstract

Proactive information donation is crucial for human cumulative cultural evolution. Evidence for proactive information donation in nonhuman animals is limited to a few examples, and its evolutionary origin remains debated. Here, we examine the role of cooperative breeding for the evolution of proactive information donation by comparing cooperatively breeding common marmosets and an independently breeding sister taxon, the squirrel monkeys, in a series of food sharing experiments. Food sharing was virtually absent in squirrel monkeys but highly prevalent in marmosets. Furthermore, experienced adult marmosets shared more food with immatures when food was more difficult than easy-to-access. This increase was mainly driven by the experienced adults, who proactively initiated sharing more often in the difficult condition, consistent with proactive information donation. These notable species differences have significant implications for the evolution of information donation in cooperatively breeding humans and its absence in other great apes who all breed independently.
Implikasi Pengalaman Etnomatematika dan Gender Terhadap Pemahaman Konsep Bilangan Siswa
Authors: Patih Tandri , Halistin Halistin , Saputri Rahma Okta , Azia Azia 
Published: January 2023

This research is causal-quantitative research that aims to find out and examine the implications/influence of ethnomathematical experiences, namely things that have been experienced by students related to mathematics who was born based on the culture and value system of an ethnic group; and differences in characteristics on the understanding of the students’ number concept. is a trait used as the basis for identifying differences between men and women in terms of socio-cultural conditions, values ​​and behavior, mentality, and so on. The research was carried out in the even semester of the 2020/2021 academic year at SMP Negeri 3 Kendari. The results show that the experience of ethnomathematics has a significant effect on understanding the concept of numbers by 0.302. Meanwhile, differences in characteristics have no effect on students' understanding of the concept of numbers at SMP Negeri 3 Kendari. This result explains that if students' ethnomathematical experience increases by one unit, then students' knowledge of mathematical concepts will increase by 0.302 units. Ethnomathematics experience can be used to design mathematics learning in an ethnomathematical context based on local wisdom in the classroom. Teachers can consider using ethnomathematical contexts based on students' experiences with traditional games they know and have played to create a condition for learning mathematics that is fun and easier to understand because it is close to students' daily lives and contains cultural values ​​that can shape students' character.
Spicy plants in the landscape compositions of the Syrets Arboretum
Authors: Mykhailyk S. M. , Glukhova S. A. , Shynder O. I. 
Published: January 2023

Purpose. To analyze the taxonomic and varietal diversity of the collection of spicy plants of the Syrets Arboretum, evaluate their decorative qualities and determine the directions of use in landscape design. Methods. The subject of the study is spicy plants grown on the territory of the Syrets Arboretum, which are a part of the collection of open ground plants. The species and varieties of this group of plants were introduced in the arboretum from 1949 to 2021. In the process of research, methods of analysis and synthesis, comparison and generalization of information were used. Results. It has been established that the collection of spicy plants of the Syrets Arboretum includes 69 taxa belonging to 33 gene­ra, 12 families. There are 52 species and 25 cultivars among them. The largest number of representatives are in the families Lamiaˆceae – 32 taxa, Amaryllidaceae – 11 taxa and Aste­raceae – 9 taxa. The life forms of spicy plants are represented by woody (19 taxa) and herbal plants (50 taxa, of which 10 annual, 2 biennial, and 38 perennial forms). The traditional fields of application of spicy plants are food, medicine (pharmacology) and perfumery. In addition, their decorative varieties and cultivars are used to create landscape compositions. In particular, on the territory of the Syrets Arboretum, spicy plants are the compositional basis of the thematic “garden of spicy aromatic plants”, they are used as elements of classic flower beds and summer compositions, thematic compositions (national and pharmacy gardens, vegetable flower beds), alpine slides and rocky gardens, etc. Conclusions. Many years of experience in landscape design and creation of floral arrangements in the Syrets Arboretum showes that spicy plants are an important element in all types of tested decorative compositions. It is revealed that out of 69 spicy plants that grow on collectible plantings of the Sirets Arboretum, 51 have decorative qualities and are used as decorative-floral and decorative-deciduous species. The taxonomic and varietal variety of spicy plants has considerable potential for breeding work and creation of highly decorative landscape compositions of various purposes. Due to the availability of different life forms and biomorphological features, it is advi­sable to use spicy plants in different types of plantations for decorative gardening and landscape design.
JUVENTUDE E MUDANÇAS CLIMÁTICAS
Authors: Silva Júnior Marcos Aurélio Freire da , Pontes Teixeira Rylanneive Leonardo 
Published: January 2023

O tema da juventude se cruza com a questão ambiental quando, no contexto contemporâneo, tem aumentado a atuação dos jovens frente às mudanças climáticas. Nesse sentido, o objetivo deste artigo é compreender e analisar, através das narrativas, as trajetórias dos jovens e as estratégias dos movimentos ativistas brasileiros que se mobilizam em torno das mudanças climáticas. Para tanto, a metodologia da pesquisa é qualitativa, fazendo uso do levantamento bibliográfico e da aplicação de entrevistas semiestruturadas. A técnica de análise dos dados é a análise de conteúdo. A partir dos resultados obtidos, concluímos que as trajetórias dos jovens estão ancoradas na influência familiar e na inserção no movimento estudantil. Ademais, as estratégias utilizadas se ancoram, principalmente, na conjuntura política ou no diálogo com o poder público.
Palavras-chave: Jovens. Movimentos sociais. Questão ambiental. Crise climática.
Long Noncoding RNA and mRNA Expression Profiles in Rats with LPSinduced
Myocardial Dysfunction
Authors: Xie Hong-Zhi , Han Ye-Chen , Shen Zhu-Jun , Xiang Ruo-Lan , Lu Bo , Qian Hao , Li Jing-Yi 
Published: January 2023

Background:
Sepsis is an uncontrolled systemic inflammatory response. Long noncoding
RNAs (lncRNAs) are involved in the pathogenesis of sepsis. However, little is known about the roles
of lncRNAs in sepsis-induced myocardial dysfunction.

Objective:
We aimed to determine the regulatory mechanism of lncRNAs in sepsis-induced myocardial
dysfunction.

Methods:
In this study, we analysed the lncRNA and mRNA expression profiles using microarray
analysis. Gene Ontology, Kyoto Encyclopedia of Genes and Genomes, protein-protein interaction
network, and gene set enrichment analysis were used to evaluate the data. We also constructed coding
and noncoding coexpression and competing endogenous RNA networks to investigate the mechanisms.

Results:
In vivo lipopolysaccharide -induced sepsis rat model was established. A total of 387 lncRNAs
and 1,952 mRNAs were identified as significantly changed in the left ventricle. Kyoto Encyclopedia
of Genes and Genomes analysis of mRNAs showed that the upregulated genes were mainly enriched
in the “complement and coagulation cascade pathway” and “immune-related biological processes”
terms. Eight significantly changed lncRNAs detected by RT-qPCR may be responsible for these processes.
A competing endogenous RNA network was generated, and the results indicated that eight
lncRNAs were related to the “calcium ion binding” process.

Conclusion:
These results demonstrate that crosstalk between lncRNAs and mRNAs may play important
roles in the development of sepsis-induced myocardial dysfunction.
Whole Exome Sequencing Identified Two Single Nucleotide Polymorphisms
of Human Leukocyte Antigen-DRB5 in Familial Sarcoidosis in
China
Authors: Zhang Qian , Xu Zuojun , Huang Hui , Zhang Meijun 
Published: January 2023

Background:
Sarcoidosis is a multisystem granulomatous disorder whose etiology is related
to genetic and immunological factors. Familial aggregation and ethnic prevalence suggest a genetic
predisposition and inherited susceptibility to sarcoidosis.

Objective:
This study aimed to identify suspected risk loci for familial sarcoidosis patients.

Methods:
We conducted whole exome sequencing on two sarcoidosis patients and five healthy family
members in a Chinese family for a case-control study. The two sarcoidosis patients were siblings who
showed chronic disease.

Results:
The Gene Ontology results showed single nucleotide polymorphisms in three genes, including
human leukocyte antigen (HLA)-DRB1, HLA-DRB5, and KIR2DL4, associated with both ‘antigen
processing and presentation’ and ‘regulation of immune response.’ Sanger sequencing verified two
nonsynonymous mutations in HLA-DRB5 (rs696318 and rs115817940) located on 6p21.3 in the major
histocompatibility complex (MHC) class II beta 1 region. The structural model simulated on Prot-
Param protein analysis by the Expert Protein Analysis System predicted that the hydropathy index
changed at two mutation sites (rs696318: p.F96L, -1.844 to -1.656 and rs115817940: p.T106N, -0.322
to -0.633), which indicated the probability of changes in peptide-binding selectivity.

Conclusion:
Our results indicated that two nonsynonymous mutations of HLA-DRB5 have been identified
in two sarcoidosis siblings, while their healthy family members do not have the mutations. The
two HLA-DRB5 alleles may influence genetic susceptibility and chronic disease progression through
peptide mutations on the MHC class II molecule among the two affected family members.
Coronary Microvascular Dysfunction in Patients with Congenital Heart
Disease
Authors: Vanreusel Inne , Segers Vincent F.M. , Craenenbroeck Emeline Van , Berendoncks An Van 
Published: January 2023

Abstract:
Congenital heart diseases represent a wide range of cardiac malformations. Medical and surgical advances have dramatically increased the survival of patients with congenital heart disease, leading to a continuously growing number of children, adolescents, and adults with congenital heart disease. Nevertheless, congenital heart disease patients have a worse prognosis compared to healthy individuals of similar age. There is substantial overlap in the pathophysiology of congenital heart disease and heart failure induced by other etiologies. Among the pathophysiological changes in heart failure, coronary microvascular dysfunction has recently emerged as a crucial modulator of disease initiation and progression. Similarly, coronary microvascular dysfunction could be important in the pathophysiology of congenital heart diseases as well.
For this systematic review, studies on maximal vasodilatory capacity in the coronary microvascular bed in patients with congenital heart disease were searched using the PubMed database.
To date, coronary microvascular dysfunction in congenital heart disease patients is incompletely understood because studies on this topic are rare and heterogeneous. The prevalence, extent, and pathophysiological relevance of coronary microvascular dysfunction in congenital heart diseases remain to be elucidated. Herein, we discuss what is currently known about coronary microvascular dysfunction in congenital heart disease and future directions.

Abstract:
Congenital heart diseases represent a wide range of cardiac malformations. Medical and
surgical advances have dramatically increased the survival of patients with congenital heart disease,
leading to a continuously growing number of children, adolescents, and adults with congenital
heart disease. Nevertheless, congenital heart disease patients have a worse prognosis compared
to healthy individuals of similar age. There is substantial overlap in the pathophysiology of congenital
heart disease and heart failure induced by other etiologies. Among the pathophysiological
changes in heart failure, coronary microvascular dysfunction has recently emerged as a crucial
modulator of disease initiation and progression. Similarly, coronary microvascular dysfunction
could be important in the pathophysiology of congenital heart diseases as well.
For this systematic review, studies on maximal vasodilatory capacity in the coronary microvascular
bed in patients with congenital heart disease were searched using the PubMed database.
To date, coronary microvascular dysfunction in congenital heart disease patients is incompletely
understood because studies on this topic are rare and heterogeneous. The prevalence, extent, and
pathophysiological relevance of coronary microvascular dysfunction in congenital heart diseases
remain to be elucidated. Herein, we discuss what is currently known about coronary microvascular
dysfunction in congenital heart disease and future directions.
The Relationship between Emotional Reactions and Coping Strategies of Nurses during the Outbreak of COVID-19 in Ganjavian Hospital in Dezful in 2020
Authors: Sarabi Nasrin , Masoudiyekta Leila , Pour Fatemeh Jafari , Mahnaz Nosratabadi , Mirsamiyazdi Nastaran , fathi Saba , Hamidipour Nasim 
Published: January 2023

Background:
Nurses face challenges when they are in a stressful situation and therefore use strategies to adapt.

Objective:
Considering the importance of the type of strategy used by nurses to maintain their mental health and considering the differences in the results of studies on the applicability of coping strategies, the present study investigates the emotional reactions and coping strategies of nurses during the COVID-19 pandemic.

Methods:
The present study is a cross-sectional (descriptive-analytical) study involving 208 nurses working in Ganjavian Hospital in Dezful in 2020. The instruments used in the questionnaire are: emotional reactions, demographic and coping style questionnaire preference for modified coping practices.

Results:
The results showed that the mean age of nurses participating in the study was 31.15±7.25 years. Most emotional reactions were related to nurses' feelings of desire with an average of 3.44 ±1. 23 and the lowest related to disgust with a mean of 2.44 ±1.26. The highest coping actions of nurses were related to nurses' emotional coping strategy with a mean of 26.87 ± 4.5. There was a significant relationship between problem-solving coping strategies with emotional disgust and direct anxiety.

Conclusion:
Due to the high level of hope and anxiety in nurses and the adoption of coping strategies focused on emotion, hospital managers and mental health managers should focus on providing psychological support to nurses and teaching problem-oriented coping strategies. They should also encourage the nurses to deal with their high level of hope for the high anxiety caused by Covid disease.
A Review of Crash Modification Factor (CMF) Estimation
Authors: Al-Marafi Mohammad Nour , Somasundaraswaran Kathirgamalingam 
Published: January 2023

Background
Road authorities and road safety experts are involved with estimating the expected outcomes originating from road safety treatments. Information derived from proposed treatments enables planners to make comparisons between the expected savings from crash reductions and associated treatment costs.

Aim
The purpose of this review is to provide direction to agencies and practitioners interested in estimating safety effectiveness.

Methods
Specifically, this study discusses the main methods for developing CMFs, including an overview of each method, data considerations, and their strengths and weaknesses. It also discusses the techniques of estimating combined CMFs resulting from multiple safety treatments.

Results
The review showed that observational Before–After (BA) studies with the Empirical Bayes (EB) and Full Bayes (FB) approaches provides enhanced consistency and precision for the estimated safety effectiveness. Alternatively, the cross-sectional method can be adopted in cases where observational BA studies are not practical due to data restrictions. Five additional techniques for estimating combined CMFs are also reviewed.

Conclusion
The study notes that while there has been substantial research in the broad area, very few studies have reported comparative methods of combined CMF estimation. Future research directions and research gaps are also highlighted in this review.
Behavioral, Sociodemographic, and Sleep Correlates of Symptoms of Depression amongst Older Brazilian Females According to Age: A Cross- Sectional Network Analysis
Authors: Bohn Lucimere , Abdalla Pedro Pugliesi , Chen Sitong , de Queiroz Neto Elzier Sampaio , Lopes Machado Dalmo Roberto , Mota Jorge , Martins Lucena Clarice 
Published: January 2023

Background:Examining the interrelationships between symptoms of depression and sociodemographic and behavioral correlates is challengeful using traditional regression analysis.Objective:to identify the sociodemographic, movement behaviors, and sleep correlates that contribute the most to symptoms of depression in Brazilian older females, using a network analysis approach.Methods:This cross-sectional study analyzed 1019 older females from Brazil. Data (sociodemographic, height (meters), weight (kilograms), symptoms of depression, physical activity, sleep) were self-reported via phone calls. The relationships between symptoms of depression and their correlates were assessed using the Network Analysis (qgraph package of the Rstudio) for entire sample and age groups (60-69; 70-79 and 80+ years old).Results:60-69 and 70-79 groups have more weekly home exits, with aging “single, widowed or divorced” was progressively higher, and “married or stable union” and Overweight/obesity were progressively fewer (p < 0.05). 60-69 have more education years and fewest medicaments use. Sleep compliance (for the entire sample), body mass index (for the 60-69), compliance with moderate to vigorous physical activity (for the 70-79), and educational level (for 80+) were the variables with the highest expected influence values (p < 0.05) on symptoms of depression (1.370; 1.388; 1.129; and 1.354, respectively).Conclusion:Symptoms of depression vary throughout the aging process and thus determine that intervention strategies encompass these specific factors according to each age group. Poor sleep behavior has a strong positive association with symptoms of depression. This result highlights that health professionals must be aware of the importance of sleep to mitigate the worsening of depression among older Brazilian females.