bluuebunny/crossref_metadata_2025_split huggingface dataset:
Novel HPD mutation p.A244V compound with p.T219M causing tyrosinemia type III in a Chinese girl and review of the genotype–phenotype spectrum
Authors: Han Dong , Wang Lihong , Zhao Chen , Li Juan , Huang Chenggang , Song Wenxia , Wang Haiwei , Li Xiaoze , Tao Yilun 
Published: October 2023

AbstractBackgroundHereditary tyrosinemia type III (HT III) is an extremely rare form of tyrosinemia, characterized by autosomal recessive inheritance and biallelic mutations in the HPD gene. The clinical presentation of HT III is variable and poorly understood, with symptoms ranging from developmental delay and intellectual impairment to seizures and intermittent ataxia. This study aimed to provide further insights into the clinical and genetic characteristics of HT III.MethodsA 3‐year‐old girl, identified through newborn screening, was diagnosed with HT III using targeted next‐generation sequencing. A comprehensive literature review was conducted, and the clinical, biochemical, and genetic findings of previously reported HT III patients were summarized and analyzed.ResultsThe genetic analysis of the proband revealed compound heterozygous mutations in the HPD gene such as c.731C>T (p.A244V) and c.656C>T (p.T219M). Notably, the HPD p.A244V mutation had not been previously documented in public databases or the scientific literature. Bioinformatics analysis classified both variants as pathogenic variants. The patient exhibited persistent tyrosinemia, elevated levels of related metabolite derivatives, confirming the diagnosis of HT III. The review of previously published cases contributed to a better understanding of the clinical and genetic characteristics associated with HT III.ConclusionEarly diagnosis and prompt treatment in infancy are crucial for managing HT III effectively. Dietary therapy, particularly during childhood, plays a significant role in disease management. The findings from this study enhance our understanding of the genotype–phenotype associations in HT III and emphasize the importance of early intervention for improved patient outcomes.
The Dose‐Dependent Effect of Curcumin Supplementation on Inflammatory Response and Gut Microbiota Profile in High‐Fat Fed C57BL/6 Mice
Authors: Bertoncini‐Silva Caroline , Fassini Priscila Giacomo , Carlos Daniela , de Paula Natália Aparecida , Ramalho Leandra Náira Zambelli , Rodrigues Giuliani Marina , Pereira Ítalo Sousa , Guimarães Jhefferson Barbosa , Suen Vivian Marques Miguel 
Published: October 2023

ScopeThe prevalence of obesity has increased, with excessive consumption of high‐fat foods being one of the primary causes. Curcumin, a polyphenol extracted from Curcuma longa L., exhibits anti‐inflammatory activity. The study aims to investigate the effects of curcumin supplementation in different doses on the biochemical profile, inflammatory response, and gut microbiota profile in mice that are fed with high‐fat diet (HFD).Methods and resultsC57BL/6 male mice are fed a standard diet, or a HFD with or without different doses of curcumin (50, 250, and 500 mg kg−1 of body weight). Throughout the experimental period, food intake and body weight are assessed weekly. At euthanasia, blood, stool, and tissue samples are collected for biochemical, histological, and molecular analyses. Curcumin increases the IL‐10 protein expression in the white adipose tissue. In the liver, there is a reduction in tumor necrosis factor alpha (TNF‐α) and an increase in IL‐10 gene expression. Also, curcumin promotes the growth of butyrogenic bacteria, such as Clostridium clusters IV and XIVa.ConclusionsThe findings suggest that curcumin has the potential to improve the inflammatory response and modulate healthy gut microbiota. Further studies are needed to clarify the role of curcumin as a preventive and effective strategy for obesity.
Audit of data from examination image headers collected for quality assurance in the ECOG‐ACRIN EA1151 tomosynthesis mammographic imaging screening trial (TMIST)
Authors: Maki Aili K. , Mawdsley Gordon E. , Mainprize James G. , Pisano Etta , Shen Sam Z. , Alonzo‐Proulx Olivier , Yaffe Martin J. 
Published: October 2023

AbstractPurposeA comprehensive, centrally‐monitored physics quality control (QC) program was developed for the Tomosynthesis Imaging Screening Trial (TMIST), a randomized controlled trial of digital breast tomosynthesis (TM) versus digital mammography (DM) for cancer screening. As part of the program, in addition to a set of phantom‐based tests, de‐identified data on image acquisition and processing parameters were captured from the DICOM headers of all individual patient images in the trial. These data were analyzed to assess the potential usefulness of header data from digital mammograms and tomosynthesis images of patients for quality assurance in breast imaging.MethodsData were automatically extracted from the headers of all de‐identified patient mammograms and tomosynthesis images in the TMIST study. Image acquisition parameters and estimated radiation doses were tracked for individual sites, systems and across system types. These parameters included (among others) kV, target/filter use, number of acquired views per examination, AEC mode, compression thickness and force and detector temperature. Consistency of manually entered study data parameters (subject ID, screening time‐point) from TMIST was evaluated. Preliminary observations from the program are presented.ResultsWe report on data from 812 651 images from 135 525 examinations acquired between October, 2017 and December, 2022. Data came from 6 system models from 3 manufacturers. There was greater variability both in the number of views used and in the estimated (proxy) doses received in DM exams compared to TM. Mean proxy doses per examination varied among manufacturers from 2.76–4.54 mGy for DM and 3–4.84 mGy for the tomosynthesis component in the TM arm with maximum examination proxy doses of 20 and 26 mGy for DM and TM respectively. Mean proxy doses per examination for the combination examination in TM (tomosynthesis plus digital mammography) varied from 6.6 to 7.6 mGy among manufacturers with a maximum of 44.5 mGy.ConclusionsOverall, modern digital mammography and tomosynthesis systems used in TMIST have operated very reliably. Doses vary considerably due to variation in the number of views per examination, thickness and fibro‐glandularity of the breast, and choices in the use of synthesized versus actual 2D mammography in the TM examination. These data may also be useful in predicting equipment problems. Header information is valuable not only for automated QC, but also for cross‐checking accuracy and consistency of data in a clinical study.
The utility of diaphragm ultrasound thickening indices for assessing respiratory decompensation in amyotrophic lateral sclerosis
Authors: Spiliopoulos Kanellos C. , Lykouras Dimosthenis , Veltsista Dimitra , Skaramagkas Vasileios , Karkoulias Kiriakos , Tzouvelekis Argyrios , Chroni Elisabeth 
Published: October 2023

AbstractIntroduction/AimsAmyotrophic lateral sclerosis (ALS) leads to diaphragmatic weakness at some point during its course, which is a major cause of respiratory insufficiency. The aim of this study was to evaluate ultrasound‐based measures for assessing the diaphragmatic competency and the need for ventilatory support.MethodsTwenty‐six subjects with ALS and 12 healthy controls were enrolled. All participants underwent B‐mode diaphragm ultrasound (DUS). Diaphragm thickness and thickening indices were recorded. In the subjects with ALS, further assessments included functional scales and spirometry. We investigated the diagnostic accuracy of DUS thickening indices in predicting diaphragmatic dysfunction and the correlation between clinical, spirometric, and DUS data.ResultsSignificant relationships were found between forced vital capacity and all diaphragmatic thickening indices. Similarly, all diaphragmatic thickening indices correlated with both Milano Torino staging and disease progression rate. Only thickening fraction (TFdi) correlated with score on the revised ALS Functional Rating Scale (r = 0.459, P = .024). TFdi had better accuracy in predicting diaphragmatic dysfunction (area under the curve [AUC] = 0.839, 95% confidence interval [CI] 0.643 to 0.953) and the need for initiation of noninvasive ventilation (NIV) (AUC = 0.989, 95% CI 0.847 to 1.000) compared with the other indices. A TFdi cut‐off point of 0.50 was a sensitive threshold to consider NIV.DiscussionDUS successfully identifies diaphragmatic dysfunction in ALS, being a valuable accessory modality for investigating respiratory symptoms. TFdi was found to be the most useful DUS index, which encourages further investigation.
Neuromuscular ultrasound: Impact on diagnosis and management
Authors: Gasemaltayeb Raed , Wannarong Thapat , Ticku Hemani , Preston David C. 
Published: October 2023

AbstractIntroduction/AimHigh‐resolution ultrasound (HRUS) is increasingly used in evaluating neuromuscular conditions. Its potential advantages include its ability to discern anatomic information and make specific etiological diagnoses. Although many studies have demonstrated HRUS effectiveness, especially in mononeuropathies, more information is needed to better determine how often and to what extent useful information is obtained; how it influences diagnosis, clinical decision‐making, and patient management; and how it is used with electrodiagnostic (EDx) studies.MethodsA retrospective cohort study was performed on patients referred for HRUS at a university laboratory during 2021. Demographic information, referral diagnoses, clinical information, HRUS findings, and follow‐up patient management were analyzed. For patients who had EDx, results were compared with HRUS. Determinations were made whether HRUS did or did not aid in the diagnosis. For patients in whom HRUS resulted in a diagnosis, determination was made whether it confirmed the diagnosis made clinically or by EDx but did not change management; added additional important information; and/or made a decisive impact on subsequent management.ResultsFive hundred two patients were analyzed, most referred for mononeuropathy, brachial plexopathy, and polyneuropathy. HRUS was abnormal in 81.7% of patients. HRUS added additional useful information in 79.0% and was decisive in management in 62.7%. In patients who also had abnormal EDx, HRUS resulted in decisive management in 49.5%.DiscussionHRUS is an effective diagnostic tool that frequently adds localizing and structural information that is otherwise not obtainable by clinical and EDx evaluation. In a substantial number of patients selected for HRUS, it is decisive in guiding further management.
Environmental DNA compliments traditional sampling for monitoring fish communities in a Texas estuary
Authors: Williford Damon , Hajovsky Polly , Anderson Joel 
Published: October 2023

Abstract

Objective
Environmental DNA (eDNA) metabarcoding has become an important method for inventorying and monitoring biota in aquatic systems. The Texas Parks and Wildlife Department conducts regular fishery-independent sampling of biotic communities using traditional sampling gears, such as gill nets and bag seines, in all of the major estuaries of adjacent to the Gulf of Mexico in Texas. Previous studies have shown that eDNA approaches can complement traditional sampling methods.

Methods
We compared fish community structure data in the Cedar Lakes estuary system obtained with traditional sampling gears with data obtained using eDNA sampling using a small sequence of mitochondrial 12S ribosomal RNA gene and a validated taxonomic reference file.

Result
For spring and fall of 2022, eDNA metabarcoding detected a larger number of species than either bag seines or gill nets. Species richness detected via eDNA in two seasons in a single year was comparable with the species richness of agency’s historical record based on traditional gears for Cedar Lakes.

Conclusion
Seasonal and spatial variation in species richness was similar between traditional and eDNA sampling; however, eDNA metabarcoding allowed detection of several species that would be difficult or impossible to capture with either bag seines or gill nets. We observed two limitations of eDNA metabarcoding. Read depth was not a good index of relative abundance, which limits our ability to infer relative biomass using single samples. Secondly, we observed detection bias in our eDNA results. Specifically, eDNA failed to detect two species of elasmobranchs present when water sampling was performed and eDNA also performed poorly compared to traditional sampling gears for some species of bony fishes. Despite these limitations, eDNA metabarcoding proved to be an efficient and cost-effective alternative and compliment to traditional fisheries sampling gears for fishery-independent monitoring of community structure and composition in estuaries of the Gulf of Mexico.
Tensor product decomposed multi‐material isogeometric topology optimization with explicit NURBS element stiffness computation
Authors: Yang Aodi , Wang Shuting , Luo Nianmeng , Yuan Xing , Xiong Tifan , Xie Xianda 
Published: October 2023

AbstractBased on the explicit stiffness computation formula of NURBS (non‐uniform rational B‐splines) element and tensor product decomposed explicit filter, a novel multi‐material isogeometric topology optimization (MMITO) method is put forward to generate multi‐material structures efficiently. The explicit NURBS element stiffness computation formula is: derived from the Bėzier extraction operator under the combination of scaled and rotational geometric transformations between NURBS elements, and the stiffness matrices of NURBS elements can be computed by the stiffness matrix of a Bėzier element without resorting to the time‐consuming integral procedure. As the presented MMITO is a nested optimization framework, we apply the explicit filtering technique to update the multi‐phase design variables efficiently in combination with the tensor product decomposition method. With the decomposed weight matrices of the filter and the explicit form of the NURBS stiffness matrix, we obtain the equivalent but much simplified preprocessing procedure and sensitivity analysis for the MMITO method. A comprehensive set of multi‐material numerical examples are optimized to verify that, while improving the preprocessing efficiency and reducing the memory overhead, the present MMITO scheme is able to generate semblable two‐dimensional and three‐dimensional multi‐material structures with identical structural performance to the traditional scheme. Therefore, the proposed MMITO method is a promising approach to optimizing multi‐material structures.
Death education for undergraduate nursing students in the China Midwest region: An exploratory analysis
Authors: Su Fen‐Ju , Zhao Hai‐Yan , Wang Tian‐Lan , Zhang Lu‐Jiao , Shi Guo‐Feng , Li Yuan 
Published: October 2023

AbstractAimThe purpose of this study was to comprehend the need for incorporating death education within the curriculum of undergraduate nursing students and to assess the factors that impact the desire for such education.DesignWe enlisted undergraduate nursing students from several nursing colleges located in the central and west region of China. Undergraduate students who fulfilled the eligibility criteria between January and February 2021 were chosen to participate. Data were collected via an online platform called Questionnaire Star. The survey encompassed a general information questionnaire and a scale for assessing the need for education on the topic of death. Descriptive statistical analysis was performed using the SPSS 20.0 software, while multivariate stepwise regression was employed for more complex analysis. Statistical significance was indicated when the p‐value was below 0.05, and high statistical significance was noted when the p‐value fell below 0.01.MethodsWe designed a descriptive quantitative approach to investigate the need for death education and its associated factors. The research involved 907 undergraduate nursing students from the central and west region of China. The data collection was done through the Questionnaire Star platform.ResultsFollowing the collection of completed surveys, individuals displaying contradictory responses were omitted. Out of 911 surveys disseminated, 907 were successfully collected, resulting in a recovery rate of 99.6%. Among the participants, 769 identified as female, constituting 84.8% of the total, while 138 identified as male, making up 15.2%. The survey findings indicated that factors such as residency, parental educational history and exposure to hospice care education significantly impacted the need for death education among undergraduate nurses (p < 0.05).ConclusionsAmong students pursuing a nursing degree at the undergraduate level, there was a pronounced need for education related to the topic of death. Offering such education to these students is essential, as it helps cultivate a proper understanding of death. This, in turn, contributes to enhancing the overall quality of patient care throughout their life journey.Patient or Public ContributionA total of 907 nursing undergraduates from central and western China participated in the questionnaire.
New Paradigm of Music Listening: Hearing Protection Perceptions and Treatment Decision‐Making Among Music Venue Attendees
Authors: Long Ryan , Lin Matthew E. , Iyer Avinash , Ayo‐Ajibola Oluwatobiloba , Choi Janet S. , Doherty Joni 
Published: October 2023

AbstractObjectiveInvestigate the prevalence of hearing protection (HP) use and behavioral motivations and barriers among adults attending music venues.Study DesignCross‐sectional online survey study.SettingNoise exposure levels at popular social music venues often exceed national guidelines.MethodsSurveys were distributed on online music communities. Respondents (n = 2352) were asked about demographics, HP use at music venues, knowledge about noise exposure impact, and perceptions of HP use. Data were characterized through descriptive statistics. Multivariable regression analysis explored differences in knowledge and perception between HP users and nonusers.ResultsIn this cohort (mean age 29 ± 7 years, 61% male), HP users were significantly more aware of the impact of music venues on hearing (P < .01), believed their hearing ability had decreased after attending music venues (P < 0.01), and believed HP could protect from hearing loss (P < .01) than non‐HP users. HP nonusers most frequently cited never considering HP (14.45%) and apathy about it affecting music quality (12.71%). Common sources of HP information were recommended by a friend/peer. Multivariable regression analysis accounting for demographics, medical history, and attendance characteristics found belief that HP use at music venues could protect from hearing loss (β = 0.64, 95% confidence interval [CI] = [0.49‐0.78]) and HP use (β = 1.73, 95% CI = [1.47‐1.98]) were significantly associated with increased subjective enjoyment while wearing HP.ConclusionHP users and nonusers have significantly different perceptions of HP use and its impact. Our findings have implications for understanding motivations and barriers related to HP use and developing strategies to promote HP use at music venues.
Long‐term impacts of primary school scholarships: Evidence from Cambodia
Authors: Barrera‐Osorio Felipe , de Barros Andreas , Filmer Deon 
Published: October 2023

ABSTRACTThis randomized trial investigates the long‐term effects of a primary school scholarship program in rural Cambodia. We estimate impacts—9 years after program inception—on educational attainment, cognitive skills, socio‐emotional outcomes, labor market outcomes, and well‐being. Our results point to systematic improvements in educational attainment but no average impacts on long‐term cognitive or socio‐emotional outcomes. A merit‐based (as opposed to poverty‐based) targeting strategy did, however, increase cognitive outcomes, especially for poorer students. The results suggest positive effects on cognition for males. We find no improvements in labor market outcomes, yet positive effects on well‐being, driven by recipients of merit‐based scholarships. These findings shed light on the complex relationship between barriers to primary schooling and long‐term outcomes, emphasizing the need for targeted approaches that consider both socioeconomic factors and individual merit, while also raising important questions about gender dynamics.
The crime effect of refugees
Authors: Akbulut‐Yuksel Mevlude , Mocan Naci , Tumen Semih , Turan Belgi 
Published: October 2023

AbstractWe analyze the impact on crime of millions of refugees who entered and stayed in Turkey as a result of the civil war in Syria. Using a novel administrative data source on the flow of offense records to prosecutors’ offices in 81 provinces of the country each year, and utilizing the staggered movement of refugees across provinces over time, we estimate instrumental variables models that address potential endogeneity of the number of refugees and their location and find that an increase in the number of refugees leads to more crime. We estimate that the influx of refugees between 2012 and 2016 generated additional 75,000 to 150,000 crimes per year, although it is not possible to identify the distribution of these crimes between refugees and natives. Additional analyses reveal that a low‐educated native population has a separate, but smaller, effect on crime. Our results underline the need to quickly strengthen the social safety systems, to take actions to dampen the impact on the labor market, and to provide support to the criminal justice system for mitigating the repercussions of massive influx of individuals into a country, and to counter the social and political backlash that typically emerges in the wake of such large‐scale population movements.
A learning journey into contemporary bioregionalism
Authors: Wearne Samuel , Hubbard Ella , Jónás Krisztina , Wilke Maria 
Published: October 2023

Abstract

Bioregioning is a new wave of bioregional discourse that appears to be attracting interest among sustainability researchers and practitioners.

Through interviews with contemporary leaders and a reflexive research process, we explored bioregioning experiences across seven countries. Our paper outlines the motivations, practices and narratives that we encountered and positions these observations against prior expressions of bioregional thought and broader themes in sustainability research.

We found that in bioregioning, the concept of a bioregion remains important and seems to attract people to the discourse in three ways: It inspires visions of the future that encompass more‐than‐human thriving, it creates a conceptual container that enables a strategic narrative for change that connects places to larger scales, and it justifies the importance of everyday people exercising their right to ‘do’ something.

The combination of these motivators shows bioregioning's relationship with earlier expressions of bioregional thought: Like early bioregional thinkers, regional scales carry cognitive and strategic appeal, and like critical bioregionalism, power and justice are foregrounded to ensure the process of change is ethical. We suggest that in the shift to bioregioning, the bioregion serves as a boundary device, justifying (for some) a focus on regional scale action which has made bioregional discourse unique, and for others, rationalising participatory or emotional priorities. This lets bioregioning enact a dialogic approach to change and enables practitioners to consider questions of scale in open dialogue with emotive place‐based dynamics, bringing nature re‐connection and social–ecological systems research into consideration and overlap with the practice of bioregioning.

We observed parallels between our research process and the central features in bioregioning; both respond to ambitions and calls within sustainability to enact relational values and surface contextualised knowledge while also valuing generalisations and abstraction. Our study, we suggest, provides one example of how research into human–nature relationships in Western sustainability might be pursued in line with these ambitions.

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