bluuebunny/crossref_metadata_2025_split huggingface dataset:
Two novel GFAP mutations and genotype-phenotype associations in Alexander disease
Authors: Cao Lanxiao , Zhao Guohua , Zhou Huidan 
Published: August 2023

Abstract
Background
Alexander disease (AxD) is a rare genetic disorder caused by mutations in the GFAP gene, which encodes glial fibrillary acidic protein and leads to astrocyte dysfunction. This study aims to report two novel GFAP mutations in Chinese AxD patients and summarize genotype-phenotype associations of AxD patients reported in the literature.
Methods and Results
A 65-year-old male presented with gradual weakness in both lower limbs and global mild brain atrophy as well as subtle white matter changes. No lesion was found in the lower brainstem or upper cervical cord. A novel frameshift mutation was identified in the GFAP gene, which is expected to result in the production of a premature truncated protein (p.R11Qfs*16). Another pathogenic mutation, c.1085A > G (p.E362G), was identified as the genetic cause of unsteady gait in an 18-year-old female who presented at age 22. Most of the pathogenic mutations described in literatures were in exons 1, 4 and 6. Mutations causing infantile form were mostly identified in Coil 1A and Coil 2B domain, but some mutations leading to adult form were found in Coil 1B and C-terminal tail domain.
Conclusions
This study further expands the clinical and genetic spectrum of juvenile and adult-onset AxD as well as the knowledge on genotype-phenotype associations.
Cost-effectiveness of Continuous Glucose Monitoring with FreeStyle Libre® in Brazilian Insulin-Treated Patients with Types 1 and 2 Diabetes Mellitus
Authors: Bahia Luciana , Mello Karla F. , Lemos Lívia Lovato Pires , Costa Naiane Lima , Molinari Eduardo , malerbi domingos 
Published: August 2023

Abstract
Background:
Hypoglycemia is a barrier to optimal glucose control in the treatment of both type 1 (T1DM) and type 2 diabetes mellitus (T2DM). Blood glucose monitoring is essential in diabetes management. Inappropriate glucose management is associated with high mortality and morbidity. Freestyle Libre® (FSL) is a continuous glucose monitoring (CGM) system that provides effective, safe, and convenient glucose monitoring, without routine finger pricking. This study aims to estimate the incremental cost-effectiveness ratio (ICER) of the FSL system in comparison to conventional Self-monitoring of blood glucose (SMBG) in T1DM and T2DM patients that require intensive insulin therapy.
Methods:
A decision-tree model was developed to compare the cost-effectiveness ratio between FSL and conventional SMBG from the perspective of the Brazilian Public Healthcare System (SUS). The model captures the cumulative rates of acute complications such as severe hypoglicemia and diabetic ketoacidosis, per-event costs, and quality-adjusted life-years (QALYs) gained over a one-year time horizon in adult and pediatric patients (≥4 years old) with T1DM or T2DM. Inputs from the Brazilian health databases, clinical trials, and real-world data were used in the study.
Results:
The results demonstrated that, regarding solely severe hypoglicemia and diabetic ketoacidosis events, T1DM have a QALY difference of 0.276, a cost difference of R$ 7.255, and an ICER of R$ 26,267.69 per QALY gained for CGM with FSL, when compared to conventional SMBG. T2DM results demonstrated equally a QALY difference of 0.184, a cost difference of R$ 7,290, and an ICER of R$ 39,692.67 per QALY gained, in favour of CGM with FSL.
Conclusion:
Our findings demonstrated that FSL is cost-effective in T1DM and T2DM for acute diabetic complications, from a SUS perspective. CGM with FSL can thus promote safe, convenient, and cost-effective glucose monitoring, contributing therefore to the improvement of both hard outcomes incidence and quality of life.
Inflation Transmission Diagnostics via a Bayesian Graph Vector Autoregressive Model with Markov Switching
Authors: Fu Jiali , Cai Fengjing , Wu Jinran , Zhao Shangrui , Wang You-Gan 
Published: August 2023

Abstract
The transmission of inflation is a widespread occurrence, and managing inflationary pressures is a crucial macroeconomic challenge. Although inflation is a typical macroeconomic variable, its contemporaneous and lagged causal relationships have not been thoroughly investigated, which could result in missing important policy insights. The Bayesian graph vector autoregression (BGVAR) model can identify contemporaneous and lagged causal relationships among economic variables, but it lacks practical research on inflationary inflation. To account for the structural transformation in the inflation transmission process, we propose a Bayesian graph vector autoregressive model with Markov switching (MS-BGVAR), which considers both regime switching and contemporaneous causality among macroeconomic variables. Our study focuses on analyzing the dynamics of inflation transmission relationships among G7 countries under different regimes, as these countries represent developed nations. We use inflation data from 1971-2019, which shows two distinct inflation regimes within the sample period. We conduct simulation experiments to generate moderately dimensional simulated data for both regimes and indicators, demonstrating the theoretical reliability of our model in accurately identifying graph structures. Finally, we apply the proposed model to identify structural breaks and causal transmission relationships in the inflation transmission process of G7 economies, demonstrating that the proposed model has significant economic significance and good explanatory power in the selected target countries.
Knockout CsRBOH5.1 causes global decrease of H3K4me3 on genes during recovery after cold stress acclimation, leading to acclimation failure
Authors: Sun Mintao , Di Qinghua , Li Yansu , Zhou Mengdi , Yan Yan , He Chaoxing , Wang Jun , Wang Xiaoqin , Yu Xianchang 
Published: August 2023

AbstractCold stress acclimation (CS-ACC) makes plant acquire CS-memory and enhances cold tolerance. However, the transcriptional mechanism during recovery after CS-ACC is rarely reported. Here, we found thatCsRBOH5.1was essential for global genes to rebuild histone H3 lysine 4 trimethylation (H3K4me3) deposition during recovery after CS-ACC, and the necessity was more obvious with the extension of recovery time.CsRBOH5.1knockout completely destroyed CS transcriptional memory (CS-TM) and disrupted most of cold-responsive gene transcription during recovery after CS-ACC. We also found that deposition pattern of H3K4me3/H3K27me3 on CS-memory genes contributed to CS-TM while that on CS-induction genes (up-down and down-up regulated) went against their transcription pattern formation, showing a natural inherent property even after CS-ACC. Moreover,CsRBOH5.1knockout did not change this conservative property. In summary, we for the first time in plants found thatCsRBOH5.1, a non-typical-histone methylation regulatory gene, regulated global genes’ H3K4me3 during recovery after CS-ACC.
Neuromanagement in WOS and SCOPUS: a guide to the first twenty years of the 21st century, from 2001 to 2020
Authors: González-Morales Antonio , López María Milagro Martín 
Published: August 2023

Abstract
The objective of this work is to study the scientific papers on neuromanagement published in the WOS and Scopus databases during the last twenty years and to provide a document that helps readers to get a global idea of this area and select those that may be of their own interest. Initially, a search was carried out in both databases with the term neuromanagement. Then, a filter was made using inclusion and exclusion rules in the article. The inclusion criterion or rule was that the article dealt with neuroscience issues applied to the management of companies or organizations.
JEL Classification: M10, M30
A system dynamic modelling and analytical framework for imported dengue outbreak surveillance and risk mapping
Authors: Del-Águila-Mejía Javier , Morilla Fernando , Donado-Campos Juan de Mata 
Published: August 2023

Abstract

Mathematical models have been used to understand complex, multi-faceted dengue transmission dynamics, but a gap persists between research and actionable public health tools for decision-making. We developed a plug-and-play system dynamics framework combining temperature-dependent vector population, transmission parameters, and epidemiological interactions that allows for testing multiple hypotheses and data availability scenarios. Spain is an at-risk country of imported dengue outbreaks, so we explored vector population and outbreak risk maps for the 26 provinces with known presence of A. Albopictus. Under our assumptions, only 15 provinces can sustain annual vector population cycles, mainly along the Mediterranean coast. Málaga and Almería, in the south, face the highest risk with outbreak beginning in spring with low vector density. Risk shifts to the summer in east coastal provinces, while some inner regions experience residual risks. Together, our framework depicts spatiotemporal risk profiles and can effectively assist evidence-based public health planning in various settings and contexts.
Study on the simulation of reservoir water environment and the optimization of ecological water replenishment effect: Taking Luhun Reservoir as an example
Authors: Guo Shaolei , Wen Yihao , Zhang Xianqi 
Published: August 2023

Abstract

With global climate change and extreme weather events, water scarcity and environmental degradation are becoming increasingly prominent. Ecological replenishment is one important measure to enhance water quality in reservoirs. To address the severe pollution and ecological degradation problems of the Luhun Reservoir, this paper uses MIKE21 software to construct a coupled hydrodynamic-water quality model. Six recharge scenarios were designed to compare and explore the enhancement of reservoir water quality for these scenarios. The water quality status of these options was evaluated using the single-factor index method and the combined pollution index method. The results show that due to the ecological replenishment, the pollutant concentration leads the phenomenon of gradient diffusion to the center of the reservoir, and the average improvement rate of water quality is up to 40.22%. Schemes 2 and 5 have the lowest integrated pollution index. The most significant improvement in water quality was achieved at the same total recharge conditions, using 0.5 times the flow rate and two times the recharge time of the actual recharge project. The study results provide theoretical and technical support for the future management of the reservoir water environment.
Mechanistic Views on the Manganese Catalyzed Homogeneous Coupling Reactions
Authors: Santhoshkumar Parvathi , Rajalakshmi C. , Sulay Rehin , Thomas Vibin Ipe 
Published: August 2023

Abstract:
The transition metal-catalyzed C-C and C-X (X=heteroatom) homo and crosscoupling
reactions were pioneered as a momentous strategy for the total synthesis of natural
products, agrochemicals, pharmaceuticals, etc. Among the various transition metal-catalyzed
reactions, manganese catalysis held a distinctive identity owing to its earth-abundance and
eco-friendliness apart from its unique characteristics. Despite having many synthetic advancements,
exploiting manganese as a catalyst for coupling reactions has recently gained
pivotal gravity. An in-depth comprehension of the molecular mechanism of the chemical reaction
will provide further insight to optimize the reaction conditions. The mechanisms adopted
by Mn-catalyzed couplings are found to differ from other first-row transition metal counterparts.
Hence in this article, we provide the state-of-the-art on the detailed theoretical aspects of
manganese-catalyzed carbon-carbon (C-C) and carbon-heteroatom (C-X; X=Si) coupling reactions.
REST-restrained lncRNA EPB41L4A-AS2 Modulates Laryngeal Squamous
Cell Carcinoma Development via Regulating miR-1254/HIPK2 Pathway
Authors: Yang Huijun , Yu Gang , Wang Yan , Guo Xing 
Published: August 2023

Background:
LncRNAs have been corroborated to exert crucial effects in malignancies,
including laryngeal squamous cell carcinoma (LSCC). Nevertheless, the role and mechanism of EPB41L4A-
AS2 in LSCC are inadequately investigated and warrant further exploration.

Methods:
Relevant database was adopted to analyze the relationship between EPB41L4A-AS2 expression
level and tumors. The expressions and relationships of EPB41L4A-AS2, RE-1 silencing
transcription factor (REST), miR-1254, and homeodomain interacting protein kinase 2 (HIPK2) in
LSCC cells were evaluated by qRT-PCR, Pearson’s correlation tests, RNA immunoprecipitation,
RNA pull-down assay, chromatin immunoprecipitation, database, and dual-luciferase reporter assay.
Following the required transfection, the biological behaviors of LSCC cells were examined using
cell function experiments. Meanwhile, the levels of Ki-67 and apoptosis-, and epithelial-mesenchymal
transition (EMT) pathway-related proteins were quantified with Western blot. Moreover,
xenografts in nude mice were constructed, and the tumor volume and weight were measured. Ki-67
positivity was determined by immunohistochemical staining.

Results:
EPB41L4A-AS2 and HIPK2 were lower-expressed, yet miR-1254 and REST were higher-
expressed in LSCC cells. Pearson’s correlation assay results exhibited a positive correlation between
HIPK2 and EPB41L4A-AS2 and a negative correlation between HIPK2 and miR-1254.
Overexpressed EPB41L4A-AS2 diminished the biological behavior, and repressed the levels of
Ki-67 and EMT-related markers in LSCC cells whilst enhancing those of apoptosis-related markers.
These aforementioned effects were counteracted by miR-1254 mimic. Moreover, EPB41L4A-
AS2 overexpression suppressed the growth of tumors and reduced the positive expression
of Ki-67 in nude mice. Besides, miR-1254 aggravated the biological behaviors and elevated the levels
of Ki-67 and EMT-related proteins in LSCC cells while reducing the levels of apoptosis-related
markers via targeting HIPK2.

Conclusion:
REST-restrained EPB41L4A-AS2 modulates LSCC development via regulating
miR-1254/HIPK2 pathway.
Sensory Reinforced Corticostriatal Plasticity
Authors: Vautrelle Nicolas , Coizet Véronique , Leriche Mariana , Dahan Lionel , Schulz Jan M. , Zhang Yan-Feng , Zeghbib Abdelhafid , Overton Paul G. , Bracci Enrico , Redgrave Peter , Reynolds John N.J. 
Published: August 2023

Background:
Regional changes in corticostriatal transmission induced by phasic dopaminergic
signals are an essential feature of the neural network responsible for instrumental reinforcement
during discovery of an action. However, the timing of signals that are thought to contribute to the induction
of corticostriatal plasticity is difficult to reconcile within the framework of behavioural reinforcement
learning, because the reinforcer is normally delayed relative to the selection and execution
of causally-related actions.

Objective:
While recent studies have started to address the relevance of delayed reinforcement signals
and their impact on corticostriatal processing, our objective was to establish a model in which a sensory
reinforcer triggers appropriately delayed reinforcement signals relayed to the striatum via intact
neuronal pathways and to investigate the effects on corticostriatal plasticity.

Methods:
We measured corticostriatal plasticity with electrophysiological recordings using a light
flash as a natural sensory reinforcer, and pharmacological manipulations were applied in an in vivo
anesthetized rat model preparation.

Results:
We demonstrate that the spiking of striatal neurons evoked by single-pulse stimulation of the
motor cortex can be potentiated by a natural sensory reinforcer, operating through intact afferent
pathways, with signal timing approximating that required for behavioural reinforcement. The pharmacological
blockade of dopamine receptors attenuated the observed potentiation of corticostriatal neurotransmission.

Conclusion:
This novel in vivo model of corticostriatal plasticity offers a behaviourally relevant
framework to address the physiological, anatomical, cellular, and molecular bases of instrumental reinforcement
learning.
Magnetic Resonance Imaging and Nuclear Imaging of Parkinsonian
Disorders: Where do we go from here?
Authors: Savoie Félix-Antoine , Arpin David J. , Vaillancourt David E. 
Published: August 2023

Abstract:
Parkinsonian disorders are a heterogeneous group of incurable neurodegenerative diseases
that significantly reduce quality of life and constitute a substantial economic burden. Nuclear imaging
(NI) and magnetic resonance imaging (MRI) have played and continue to play a key role in research
aimed at understanding and monitoring these disorders. MRI is cheaper, more accessible, nonirradiating,
and better at measuring biological structures and hemodynamics than NI. NI, on the other
hand, can track molecular processes, which may be crucial for the development of efficient diseasemodifying
therapies. Given the strengths and weaknesses of NI and MRI, how can they best be applied
to Parkinsonism research going forward? This review aims to examine the effectiveness of NI and
MRI in three areas of Parkinsonism research (differential diagnosis, prodromal disease identification,
and disease monitoring) to highlight where they can be most impactful. Based on the available literature,
MRI can assist with differential diagnosis, prodromal disease identification, and disease monitoring
as well as NI. However, more work is needed, to confirm the value of MRI for monitoring prodromal
disease and predicting phenoconversion. Although NI can complement or be a substitute for
MRI in all the areas covered in this review, we believe that its most meaningful impact will emerge
once reliable Parkinsonian proteinopathy tracers become available. Future work in tracer development
and high-field imaging will continue to influence the landscape for NI and MRI.
Effect of Physical Exercise on Cardiac Autonomic Modulation in Hypertensive
Individuals: A Systematic Review and Meta-analysis
Authors: Abidi Ayesha Miraj , Mujaddadi Aqsa , Raza Shahid , Moiz Jamal Ali 
Published: August 2023

Background:
Cardiac autonomic dysfunction is associated with hypertension and exercise training (ET) in healthy individuals is found to improve cardiac autonomic modulation (CAM). However, the effects of physical exercise on CAM in hypertensive individuals are under debate.

Objective:
The aim of the review is to systematically evaluate the literature on the effects of physical ex-ercise on CAM in hypertensive individuals and analyse comparative differences in the effects of exercise between hypertensive and normotensive individuals.

Methods:
Electronic databases, such as Pubmed, PEDro, Scopus, and Web of Science, were systematical-ly searched from inception up to February, 2022, evaluating the effect of ET on CAM either by heart rate variability (HRV), baroreflex sensitivity or heart rate recovery. Fifteen studies were included in the re-view. The risk of bias was assessed using the Cochrane risk of bias tool version 2 and the risk of bias in studies of intervention (ROBINS-I) tool. The overall quality of evidence was assessed using the grading of recommendations, assessment, development, and evaluation approach. Ten studies were included in the quantitative analysis. The meta-analysis and sensitivity analysis were performed using review manag-er 5.4.1; publication bias was assessed using Jamovi 2.2.5 software.

Results:
The qualitative analysis revealed low to moderate certainty of evidence for ET and moderate for aerobic training. For the effect of overall ET, the analysis revealed that the standardized mean differences (SMD) showed a significant effect of ET on HF (SMD 1.76, p = 0.04) and RMSSD (SMD 1.19, p < 0.0001) and a significant decrease in LF (SMD -1.78, p = 0.04). Aerobic training revealed nonsignificant improvement in HRV parameters. In the comparative analysis, ET did not show a significant difference in improvement between hypertensive and normotensive individuals.

Conclusion:
This review suggests an improvement in CAM with physical exercise in hypertensive indi-viduals, but the overall effect of ET in hypertensive individuals must be interpreted with caution as the robustness of the data is compromised in the sensitivity analysis of the trials. High-quality future trials fo-cusing on different modes of ET interventions are needed to strengthen the findings of the present review.
Diagnostic Accuracy of Gestosis Score in Comparison to multi-marker
Screening as a Predictor of Preeclampsia at 11-14 Weeks of Pregnancy: A
Cohort Study
Authors: Khanijo Priya , Nautiyal Ruchira , Mangla Mishu , Rajput Rashmi , Saini Manju 
Published: August 2023

Background:
Pre-eclampsia is a pregnancy-specific multisystemic disorder associated with adverse feto-maternal outcomes. Low-dose Aspirin therapy started in early pregnancy in high-risk women, has significantly reduced the chances of developing PE. Therefore, screening and identifica-tion of at-risk mothers are crucial. The present study was planned to study the predictive ability of ges-tosis score in predicting early-onset pre-eclampsia by comparing it with the multi-marker model.

Material and Methods:
One hundred sixteen women, more than 19 years of age, with live singleton pregnancy at 11-13 weeks of gestation were recruited from the antenatal outpatient department and formed the study cohort. After a detailed history, screening for pre-eclampsia was performed both by multi-marker screening and by gestosis score. Diagnostic accuracy was compared for the two methods of screening.

Results:
The incidence of pre-eclampsia in the present study cohort was 26.7%. The sensitivity of ges-tosis score >/= 3 was 84.38% (67.21-94.72) and specificity was 93.18% (85.75-97.46 %). The positive predictive value was 81.82% (67.2%-90.81%), and the negative predictive value was 94.25 (87.98 – 97.35%). The diagnostic accuracy of the gestosis score was 90.83%.

Conclusion:
Gestosis scoring is a potential tool that can be used as a cost-effective screening method for pre-eclampsia at 11-14 weeks of gestation in low-resource settings. The sensitivity and negative predictive value of the gestosis score is comparable to multi-marker screening using maternal factors, MAP, Uterine artery PI, PAPP-A, and PlGF.
Full-length PacBio Amplicon Sequencing to Unveil RNA Editing Sites
Authors: Zhu Xiao-Lu , Liao Ming-Ling , Zhu Ya-Jie , Dong Yun-Wei 
Published: August 2023

Background:
RNA editing enriches post-transcriptional sequence changes. Currently detecting RNA editing sites is mostly based on the Sanger sequencing platform and second-generation sequencing. However, detection with Sanger sequencing is limited by the disturbing background peaks
using the direct sequencing method and the clone number using the clone sequencing method, while second-generation sequencing detection is constrained by its short read.

Objective:
We aimed to design a pipeline that can accurately detect RNA editing sites for full-length
long-read amplicons to meet the requirement when focusing on a few specific genes of interest.

Method:
We developed a novel high-throughput RNA editing sites detection pipeline based on the
PacBio circular consensus sequences sequencing which is accurate with high-throughput and long-read
coverage. We tested the pipeline on cytosolic malate dehydrogenase in the hard-shelled mussel Mytilus
coruscus and further validated it using direct Sanger sequencing.

Results:
Data generated from the PacBio circular consensus sequences (CCS) amplicons in three mussels were first filtered by quality and then selected by open reading frame. After filtering, 225-2047 sequences of the three mussels, respectively, were used to identify RNA editing sites. With corresponding
genomic DNA sequences, we extracted 227-799 candidate RNA editing sites excluding heterozygous
sites. We further figured out 7-11 final RESs using a new error model specially designed for RNA editing site detection. The resulting RNA editing sites all agree with the validation using the Sanger sequencing.

Conclusion:
We report a near-zero error rate method in identifying RNA editing sites of long-read amplicons with the use of PacBio CCS sequencing.