bluuebunny/crossref_metadata_2025_split huggingface dataset:
A case of primary ciliary dyskinesis with DRC1 deletion and literature review: Additional evidence on the founder effect
Authors: Ohya Ayami , Tomomasa Dan , Sakura Fumiaki , Asano Takaki , Arisaka Atsuko , Akashi Takumi , van Zelm Menno C. , Morio Tomohiro , Okada Satoshi , Kanegane Hirokazu 
Published: October 2024

AbstractBackgroundPrimary ciliary dyskinesia (PCD) is a rare genetic disease caused by defects in various genes affecting ciliary function. It is currently unclear why DRC1 gene variants are a relatively frequent cause of disease in Japanese and Korean patients.MethodsA 12‐year‐old Japanese girl with bronchiectasis was suspected of PCD and examined using whole‐exome sequencing (WES). The breakpoint region was confirmed by Sanger sequencing and evaluation of transposable elements.ResultsWhole‐exome sequencing revealed a deletion of DRC1 exons 1–4 in the patient, followed by validation with Sanger sequencing. A DRC1 exon 1–4 deletion is recurrently observed in Japanese and Korean patients with PCD. All reported patients carry the same breakpoint region, which shows signs of Alu‐mediated recombination. Intriguingly, common haplotypes were observed around the DRC1 gene in Japanese and Korean patients.ConclusionThe recurrent DRC1 exon 1–4 deletion is therefore likely to be a founder variant and should be considered a major genetic cause of PCD in Japanese and Korean patients with PCD.
Ontology After Folk Psychology; or, Why Eliminativists Should Be Mental Fictionalists
Authors: Parent Ted 
Published: October 2024

ABSTRACTMental fictionalism holds that folk psychology should be regarded as a kind of fiction. The present version gives a Lewisian prefix semantics for mentalistic discourse, where roughly, a mentalistic sentence “p” is true iff “p” is deducible from the folk psychological fiction. An eliminativist version of the view can seem self‐refuting, but this charge is neutralized. Yet a different kind of “self‐effacing” emerges: Mental fictionalism appears to be a mere “parasite” on a future science of cognition without contributing anything substantial. The paper then rebuts the objection, illustrating that prefix semantics resolves a lingering problem for eliminativism from Boghossian. The problem is that eliminativists seem unable to adopt realism about neuroscience, for such realism implies that neuroscientific statements represent reality accurately. However, a deflationary version of prefix semantics allows the eliminativist to draw an ontologically relevant distinction (roughly) between truths that have a storytelling prefix and those that do not. (Deflationism means there is no implication that the unprefixed sentences robustly represent reality). The overarching lesson is that eliminativists need to approach ontology carefully so as to avoid self‐refutation; however, prefix‐semantical mental fictionalism provides the resources for them to do so.
The multifunctional roles of the extracellular matrix in the sessile life of the zygnematophyte Penium margaritaceum: stick, glide and cluster
Authors: LoRicco Josephine G. , Sun Li , Bauer Lindsay , Sgambettera Gabriel , Epstein Ruby , Bagdan Kaylee , Winegrad Aaron , Palacio‐Lopez Kattia , Hao Pengfei , Sørensen Iben , Bacic Antony , Rose Jocelyn K. C. , Doblin Monika S. , Domozych David S. 
Published: October 2024

AbstractAdhesion and consequent adoption of a sessile habit is a common feature of many green algae and was likely a key mechanism in terrestrialization by an ancient zygnematophyte (i.e., the Zygnematophyceae, the group of algae ancestral to land plants). Penium margaritaceum is a unicellular zygnematophyte that exhibits a multistep adhesion mechanism, which leads to the establishment of the sessile habit. Based on microscopic and immunological data, a dense aggregate of fibrils containing arabinogalactan‐protein (AGP)‐like components covers the cell surface and is responsible for initial adhesion. The AGP‐like fibrils are 20 μm in diameter and possess chemical profiles similar to land plant AGPs. The fibrils attach to the inner cell wall layers and are very likely connected to the plasma membrane as glycophosphatidylinositol (GPI) lipid‐anchored proteins, as they are susceptible to phospholipase C treatment. The presence of GPI‐anchored AGPs in Penium is further supported by the identification of putative Penium homologs of land plant AGP genes responsible for GPI‐anchor synthesis. After adhesion, cells secrete a complex heteropolysaccharide‐containing extracellular polymeric substance (EPS) that facilitates gliding motility and the formation of cell aggregates. Fucoidan‐like polymers, major components of brown algal CWs, are a major constituent of both the EPS and the adhesive layer of the CW and their role in the adhesion process is still to be examined.
Wild mungbean resistance to the nematode Meloidogyne enterolobii involves the induction of phenylpropanoid metabolism and lignification
Authors: Lee Sook‐Kuan , Liao Pin‐Zhe , Lin Chih‐Yu , Chen Hung‐Wei , Hsieh Meng‐Shan , Lin Ya‐Ping , Chen Yi‐Ju , Hong Jia‐Heng , Chiang Yi‐Ling , Cheng Chiu‐Ping , Chen Pei‐Chen Janet , Lee Cheng‐Ruei , Yang Jiue‐In , Ting Hieng‐Ming 
Published: October 2024

AbstractRoot‐knot nematodes (Meloidogyne spp.) are plant parasites causing annual economic losses amounting to several billion US dollars worldwide. One of the most aggressive species is M. enterolobii, a growing threat to agriculture due to its broad host range and ability to overcome many known resistance genes. Mungbean, a nutritionally and economically valuable crop, is particularly vulnerable to nematodes and pathogens. However, research focusing on mungbean resistance to M. enterolobii is scarce, and the corresponding defense mechanisms are poorly understood. Here, we screened mungbean accessions and identified an accession strongly resistant to M. enterolobii. Transcriptome analysis revealed 2730 differentially expressed genes (DEGs) in this resistant accession (CPI106939) compared to 1777 in the susceptible accession (Crystal) 7 days after nematode inoculation. The gene ontology (GO) upregulated in CPI106939 with functions related to plant‐pathogen interactions, plant hormone signaling, oxidative stress, and plant immunity. Plant defense‐related genes (WRKY, PAL, MAPK, POD and PR) were also significantly induced in CPI106939. Metabolome analysis showed that four secondary metabolites related to phenylpropanoid metabolism and lignification were significantly enriched in CPI106939. The induced immune response and secondary metabolites may underpin the enhanced resistance to M. enterolobii, providing insight into the resistance mechanisms in accession CPI106939 as well as candidate genes controlling the interaction between mungbean and its nematode parasite. Our study therefore provides foundations for the breeding of new varieties with intrinsic M. enterolobii resistance.
Students or prisoners: Contrasting approaches to rural economic development
Authors: Chalmers Katherine , Wilcox Raleigh 
Published: October 2024

AbstractObjectiveWe examine the economic consequences of choosing between higher education and correctional facilities for rural communities seeking economic development. Because rural areas have lagged behind urban areas in their pursuit of economic development, some areas rely on the employment boost from attracting prisons and other incarceration facilities, while others try to attract or expand facilities of higher learning.MethodsUsing Census and QCEW data, we employ a quasi‐experimental analysis to examine the relative merits of both approaches for economic development for rural California. Evaluating average wage per worker along with industrial diversity and employment measures, we compare rural California counties that have prisons to those that have higher education versus a control group without such public investments.ResultsOur results show that while correctional facilities can generate regional growth, the economic development offered by higher education appears to have more substantive long‐term benefits stemming from larger population growth, wealthier proprietorships, and a decline in a county's dependence upon government as a source of its income.ConclusionsWe conclude that universities help build regional coalitions and linkages that reenforce economic development for a rural community as well as providing a skilled labor force and cultural opportunities that a rural prison does not.
Correlation of the Transfusion Camp knowledge assessment test with clinical transfusion practice
Authors: Tordon Bryan , Meirovich Harley , Malkin Amie , Pavenski Katerina , Moorehead Amy , Ginsborg Lette , Saeed Samia , Shehata Nadine , Callum Jeannie , Cserti‐Gazdewich Christine , Lieberman Lani , Pendergrast Jacob , Lin Yulia 
Published: October 2024

AbstractBackgroundIt is uncertain how transfusion knowledge translates to practice. The purpose of the study was to determine if higher scores on a validated Transfusion Camp knowledge assessment test were associated with transfusion order appropriateness.Study Design and MethodsEligible participants included postgraduate trainees and faculty physicians who had prescribed at least four transfusion orders in the preceding 6 months at two hospitals. Participant data and knowledge were collected using a web‐based questionnaire with a validated Transfusion Camp knowledge assessment tool. The most recent 4–10 consecutive transfusion orders per prescriber were independently dually adjudicated for appropriateness based on published criteria. The primary outcome was the correlation between the score on six questions on red blood cells (RBCs), platelets (PLTs), and plasma from the validated test and the percentage order appropriateness. Generalized linear regression was conducted to determine if factors (sex, specialty, participation in Transfusion Camp, previous transfusion education, self‐rated knowledge) were associated with appropriate orders.ResultsSeventy‐four participants (45 trainees, 29 faculty; 31 females, 43 males) completed the test. Median score was 66.7% (interquartile range [IQR]: 50.0, 83.3) for six questions on RBCs, PLTs, and plasma transfusions. Of 546 transfusion orders adjudicated, appropriateness was 90.7% (95% confidence interval [CI]: 87.9%–93.0%). The correlation between prescriber test scores and order appropriateness was very weak (r = −.08). In multivariable analysis, female prescribers (p = .02) and beginner (vs. intermediate) self‐rated knowledge (p = .01) were associated with higher transfusion appropriateness.ConclusionTransfusion knowledge test scores did not correlate with order appropriateness. Factors other than knowledge are key to understanding how to improve appropriate blood use.
Reconstruction of deep and perforating corneal defects in dogs—A review (Part I/III): Autogenous ocular tissues, donor tissues, and corneal clarity scoring
Authors: Sanchez Rick F. , Ledbetter Eric C. , Leiva Marta 
Published: October 2024

AbstractCorneal reconstruction is a key part of veterinary ophthalmic practice and numerous reconstructive techniques have been described for use in small animals in the peer‐reviewed veterinary literature written in English. Despite the evidence accrued over the last six decades in over 40 clinical articles and numerous other publications on ocular surface health, several key areas require further study. The comparison between studies is difficult due to elements that go beyond common factors, such as the indication for surgery, the reconstructive technique preferred by the surgeon or the availability of reconstructive materials. However, the differences in reporting style adopted by different authors between similar studies and the lack of data found in retrospective studies add to this complexity. The present review is divided into three parts. One covers the use of autologous materials for reconstruction and corneal transplants, as well as corneal clarity. A second part focuses on biomaterials and keratoprosthetics, while the third part focuses on the use of corneal sutures and report of ocular discomfort/pain in the veterinary literature. The review focuses on the main findings of each reconstruction technique. It aims to identify areas where key information about common procedures is missing so that general guidelines may be provided for the planning of patient record keeping and future retrospective or prospective studies, while it also aims to highlight the presence of knowledge gaps that deserve further attention.
Administering Internships in Sport Management: Comparing Practices in the Discipline
Authors: Odio Michael A. , Coble Cassandra J. , Padgett Plunkett Emily 
Published: October 2024

This study examined how academic programs administrate their internships, including implementing and executing their philosophy and internship rationale, and connecting with and managing relationships with internship agencies while accounting for contextual information (e.g., geography, size, and research vs. teaching focus). Using a case-study methodology, 12 sport management programs’ internship approaches were analyzed, leading to several cross-case themes and larger interpretations useful for advancing future research and practice related to internships. Several commonalities and differences were observed that offer insight important for interpreting existing research and recommending practices across programs.
Valid and accepted novel bacterial taxa isolated from non-domestic animals and taxonomic revisions published in 2023
Authors: Munson Erik , Burbick Claire R. , Lawhon Sara D. , Krueger Trinity , Ruiz-Reyes Elena 
Published: October 2024

ABSTRACT

Continued investigation into the bacteria associated with non-domestic animals provides important information for recognizing normal flora, assessing the health status of these unique species of animals, and identifying new or emerging pathogens of concern. In this summary of novel taxa and taxonomic revisions, considerable additions have been made toward understanding fecal and mucosal flora in multiple wild animal species. In addition, novel pathogenic bacteria are discussed, including multiple
Chlamydia
spp. causing disease in a hawk and crocodile, two
Corynebacterium
spp. causing oral lesions in penguins and a lesser-known genus,
Mergibacter
within Family
Pasteurellaceae
, causing disease in multiple wild bird species. Finally, a few revisions to bacteria isolated from normal non-domestic animal body sites are mentioned.
Treatment methods for oesophageal strictures in paediatric patients with epidermolysis bullosa: a systematic review
Authors: Khademian Majid , Saneian Hosein , Zare Narges , Famouri Fatemeh , Nasri Peiman , Moghadasi Mehri , Kelishadi Roya 
Published: October 2024

BackgroundEpidermolysis bullosa (EB) is a collection of rare, inherited disorders that require treatment in specialised centres by multidisciplinary teams knowledgeable about the unique features and challenges of EB manifestations and complications.A major gastrointestinal complication in patients with EB is oesophageal strictures. Effective management of oesophageal strictures can significantly improve patients’ quality of life. This study systematically reviews the current literature on treatment options for oesophageal strictures in paediatric patients with EB.MethodsIn September 2023, we conducted a systematic search for articles on the treatment of oesophageal stricture in patients with EB. We searched PubMed, Scopus, Embase and Ovid database without language or publication date restrictions. We screened 1042 articles, 15 of them were included in the current review. We extracted the following data from these studies: patient demographics, stricture characteristics, procedural details, clinical outcomes, complications and recurrences.ResultsOverall, in the reviewed papers, strictures were located mostly in cervical oesophagus followed by thoracic lesions. Moreover, in most of the cases only a single stricture was reported, but multiple strictures were not uncommon. Stricture treatment approaches included medical management, bougienage, as well as fluoroscopic and endoscopic balloon dilation or a combination of these methods. In most studies, fluoroscopic dilation was used as the primary treatment method in 756 procedures. They commonly used general anaesthesia for the procedure, only one study used sedation. Hospital stays were usually brief, with an average duration of 1 day, and in one study patients were discharged after just 4 hours. Most patients experienced symptom relief, could resume oral intake and gained weight soon after the procedure. However, recurrence rates had large variations from 12% to 83%. Studies reported median recurrence intervals ranging from 7 to 18 months. This review showed that complications such as perforation, fever and odynophagia were relatively uncommon, and were controlled by conservative treatment.ConclusionsBoth fluoroscopic and endoscopic balloon dilation are widely used methods for the management of oesophageal strictures in patients with EB. Each technique presents its own set of advantages and potential complications. Although the current evidence is notably limited, practical clinical decision-making may favour the fluoroscopic technique over endoscopic balloon dilation due to a comparatively reduced risk of procedural trauma. To ascertain the most effective approach, high-quality randomised controlled trials are imperative to delineate the superiority of one technique over the other.
Multicentre external validation of the Neonatal Healthcare-associated infectiOn Prediction (NeoHoP) score: a retrospective case–control study
Authors: Lloyd Lizel G , Dramowski Angela , Bekker Adrie , Ballot Daynia Elizabeth , Ferreyra Cecilia , Gleeson Birgitta , Nana Trusha , Sharland Michael , Velaphi Sithembiso Christopher , Wadula Jeannette , Whitelaw Andrew , van Weissenbruch Mirjam Maria 
Published: October 2024

Background and objectivesNeonatal mortality due to severe bacterial infections is a pressing global issue, especially in low-middle-income countries (LMICs) with constrained healthcare resources. This study aims to validate the Neonatal Healthcare-associated infectiOn Prediction (NeoHoP) score, designed for LMICs, across diverse neonatal populations.MethodsProspective data from three South African neonatal units in the Neonatal Sepsis Observational (NeoOBS) study were analysed. The NeoHoP score, initially developed and validated internally in a South African hospital, was assessed using an external cohort of 573 sepsis episodes in 346 infants, focusing on different birth weight categories. Diagnostic metrics were evaluated, including sensitivity, specificity, positive predictive value and area under the receiver operating characteristic curve.ResultsThe external validation cohort displayed higher median birth weight and gestational age compared with the internal validation cohort. A significant proportion were born before reaching healthcare facilities, resulting in increased sepsis evaluation, and diagnosed healthcare-associated infections (HAIs). Gram-negative infections predominated, with fungal infections more common in the external validation cohort.The NeoHoP score demonstrated robust diagnostic performance, with 92% specificity, 65% sensitivity and a positive likelihood ratio of 7.73. Subgroup analysis for very low birth weight infants produced similar results. The score’s generalisability across diverse neonatal populations was evident, showing comparable performance across different birth weight categories.ConclusionThis multicentre validation confirms the NeoHoP score as a reliable 'rule-in' test for HAI in neonates, regardless of birth weight. Its potential as a valuable diagnostic tool in LMIC neonatal units addresses a critical gap in neonatal care in low-resource settings.
p53 mutation biases squamocolumnar junction progenitor cells towards dysplasia rather than metaplasia in Barrett’s oesophagus
Authors: Lian Guodong , Malagola Ermanno , Wei Chengguo , Shi Qiongyu , Zhao Junfei , Hata Masahiro , Kobayashi Hiroki , Ochiai Yosuke , Zheng Biyun , Zhi Xiaofei , Wu Feijing , Tu Ruhong , Nápoles Osmel Companioni , Su Wenjing , Li Leping , Jing Changqing , Chen Man , Zamechek Leah , Friedman Richard , Nowicki-Osuch Karol , Quante Michael , Que Jianwen , Wang Timothy C 
Published: October 2024

Background
While p53 mutations occur early in Barrett’s oesophagus (BE) progression to oesophageal adenocarcinoma (EAC), their role in gastric cardia stem cells remains unclear.

Objective
This study investigates the impact of p53 mutation on the fate and function of cardia progenitor cells in BE to EAC progression, particularly under the duress of chronic injury.

Design

We used a BE mouse model (L2-IL1β) harbouring a
Trp53
mutation (R172H) to study the effects of p53 on Cck2r
+
cardia progenitor cells. We employed lineage tracing, pathological analysis, organoid cultures, single-cell RNA sequencing (scRNA-seq) and computational analyses to investigate changes in progenitor cell behaviour, differentiation patterns and tumour progression. Additionally, we performed orthotopic transplantation of sorted metaplastic and mutant progenitor cells to assess their tumourigenic potential in vivo.

Results
The p53 mutation acts as a switch to expand progenitor cells and inhibit their differentiation towards metaplasia, but only amidst chronic injury. In L2-IL1β mice, p53 mutation increased progenitors expansion and lineage-tracing with a shift from metaplasia to dysplasia. scRNA-seq revealed dysplastic cells arise directly from mutant progenitors rather than progressing through metaplasia. In vitro, p53 mutation enhanced BE progenitors’ organoid-forming efficiency, growth, DNA damage resistance and progression to aneuploidy. Sorted metaplastic cells grew poorly with no progression to dysplasia, while mutant progenitors gave rise to dysplasia in orthotopic transplantation. Computational analyses indicated that p53 mutation inhibited stem cell differentiation through Notch activation.

Conclusions
p53 mutation contributes to BE progression by increasing expansion and fitness of undifferentiated cardia progenitors and preventing their differentiation towards metaplasia.