bluuebunny/crossref_metadata_2025_split huggingface dataset:
Deep learning–based assessment of missense variants in theCOG4gene presented with bilateral congenital cataract
Authors: Xiao Binghe , Zhang Shaohua , Ainiwaer Maierdanjiang , Liu Houyi , Ning Li , Hong Yingying , Sun Yang , Ji Yinghong 
Published: January 2025

ObjectiveWe compared the protein structure and pathogenicity of clinically relevant variants of theCOG4gene with AlphaFold2 (AF2), Alpha Missense (AM), and ThermoMPNN for the first time.Methods and analysisThe sequences of clinically relevant Cog4 missense variants (one novel identified p.Y714F and three pre-existing p.G512R, p.R729W and p.L769R from Uniprot Q9H9E3) were imported into AF2 for protein structural prediction, and the pathogenicity was estimated using AM and ThermoMPNN. Different pathogenicity metrics were aggregated with principal component analysis (PCA) and further analysed at three levels (amino acid position, substitution and post-translation) based on all possible Cog4 missense variants (n=14 915).ResultsLocalised protein structural impact including change of conformation and amino acid polarity, breakage of hydrogen bond and salt-bridge, and formation of alpha-helix were identified among clinically relevant Cog4 variants. The global structural comparison with multidimensional scaling demonstrated variants with similar protein structures (AF2) tended to exhibit similar clinical and biological phenotypes. The Cog4 p.Y714F variant exhibited greater protein structural similarity to mutated Cog4 found in Saul‒Wilson syndrome (p.G512R) and shared similar clinical phenotype (congenital cataract and psychomotor retardation). PCA of included pathogenic metrics demonstrated p.Y714F occurred at a critical position in Cog4 amino acid sequence with disrupted post-translational phosphorylation.ConclusionDeep learning algorithms, including AF2, AM and ThermoMPNN, can be useful for evaluating variant of uncertain significance (VUS) by structural and pathogenicity prediction. Despite classified as VUS (American College of Medical Genetics and Genomics criteria: PM1, PP4), the pathogenicity in this Cog4 variant cannot be ruled out and warrants further investigation.
Investigation of the hybrid multilayered higher-order-mode absorber at NSRL for a 499.8MHz superconducting cavity
Authors: Chai Xiyuan , Tan Mingsheng , Tang Yungai , Li Qin , Xu Yunpeng , Wu Cong-Feng , He Duohui 
Published: January 2025

This study investigates Beam Line Absorbers (BLAs) for the Hefei Advanced Light Facility (HALF). A ferrite-based BLA prototype was developed, demonstrating high-power handling capacity up to 10[Formula: see text]kW, ultra-high vacuum performance better than [Formula: see text] [Formula: see text]mbar, and high absorption efficiency in critical frequency ranges. Subsequently, more compact designs with reduced longitudinal length were explored, investigating ferrite-only, silicon carbide (SiC)-only, and hybrid configurations through RF simulations. Based on preferred absorption efficiency, ferrite-only and hybrid BLA structures were further analyzed under high-power conditions. Referencing test results, multiphysics simulations were conducted under 3[Formula: see text]kW absorbed power. The hybrid design, comprising two rings of ferrite tiles and one ring of SiC tiles, improved the temperature distribution of the absorbing materials. Extrapolating to 11[Formula: see text]kW absorbed power, this design reduced the maximum temperatures on absorbing tiles by up to 40[Formula: see text]C compared to the ferrite-only design. The hybrid design offers a balanced solution that combines effective HOM damping with enhanced thermal performance, improving the long-term operational stability of BLAs.
Insulin and Insulin-like Growth Factor and Risk of Postmenopausal Estrogen Receptor–Positive Breast Cancer: A Case–Cohort Analysis
Authors: Albers Frances E.M. , Swain Christopher T.V. , Lou Makayla W.C. , Dashti S. Ghazaleh , Rinaldi Sabina , Viallon Vivian , Karahalios Amalia , Brown Kristy A. , Gunter Marc J. , Milne Roger L. , English Dallas R. , Lynch Brigid M. 
Published: January 2025

Abstract

Background:
Higher concentration of insulin-like growth factor-1 (IGF-1) increases postmenopausal breast cancer risk, but evidence for insulin and c-peptide is limited. Furthermore, not all studies have accounted for potential confounding by biomarkers from other biological pathways, and not all were restricted to estrogen receptor (ER)–positive breast cancer.

Methods:
This was a case–cohort study of 1,223 postmenopausal women (347 with ER-positive breast cancer) from the Melbourne Collaborative Cohort Study. We measured insulin, c-peptide, IGF-1, insulin-like growth factor binding protein-3, and biomarkers of inflammatory and sex-steroid hormone pathways. Poisson regression with a robust variance estimator was used to estimate risk ratios (RR) and 95% confidence intervals (95% CI) for ER-positive breast cancer per doubling plasma concentration and for quartiles, without and with adjustment for other, potentially confounding biomarkers.

Results:
ER-positive breast cancer risk was not associated with doubling of insulin (RR = 0.97, 95% CI, 0.82–1.14) or c-peptide (RR = 1.01, 95% CI, 0.80–1.26). Risk seemed to decrease with doubling IGF-1 (RR = 0.80, 95% CI, 0.62–1.03) and insulin-like growth factor binding protein-3 (RR = 0.62, 95% CI, 0.41–0.90). RRs were not meaningfully different when exposures were modeled as quartiles. RRs were less than unity but imprecise after adjustment for inflammatory and sex-steroid hormone biomarkers.

Conclusions:
Circulating insulin, c-peptide, and IGF-1 were not positively associated with risk of ER-positive breast cancer in this case–cohort analysis of postmenopausal women.

Impact:
Associations between insulin and c-peptide and risk of ER-positive breast cancer in postmenopausal women are likely to be weak.
Cancer Incidence in the Hispanic Community Health Study/Study of Latinos (HCHS/SOL)—The Onco-SOL Ancillary Study
Authors: Parada Humberto , Agalliu Ilir , Sotres-Alvarez Daniela , Olshan Andrew F. , Evenson Kelly R. , Rohan Thomas E. , Kaplan Robert C. , Thompson Caroline A. , Gallo Linda C. , Penedo Frank J. , Cai Jianwen , Wassertheil-Smoller Sylvia , Thyagarajan Bharat , Thomas Stefani N. , Garcia-Bedoya Olga L. , Daviglus Martha L. , Talavera Gregory A. 
Published: January 2025

Abstract

Background:
Few studies have examined how cancer incidence varies by the country of origin among US Hispanic/Latino adults. In this study, we describe the incidence rates (IR) of cancer overall and for screen-detectable, tobacco-related, and obesity-related cancers among 16,415 participants in the Hispanic Community Health Study/Study of Latinos, an ongoing population-based cohort study of Hispanic/Latino adults from diverse backgrounds.

Methods:
Cohort participant records were linked to the state cancer registries in New York, Florida, California, and Illinois to ascertain cancer incidence from baseline (2008–2011) through 2021. We estimated weighted age-adjusted IRs and age- and sex-adjusted HRs.

Results:
Over a mean follow-up of 10.7 (SD = 2.0) years, 715 incident invasive cancers were diagnosed including 118 female breast, 102 prostate, and 79 bronchus and lung cancers. The IR of all cancers combined was 26.2 [95% confidence interval (CI), 22.6–30.2] per 10,000 (10K) person-years (py). The IRs were lowest among persons of Mexican descent [IR, 19.0 (95% CI, 15.0–24.1) per 10K py] and highest for those of Puerto Rican [IR, 36.6 (95% CI, 28.4–47.0) per 10K py] descent. Compared with those of Mexican descent, those of Puerto Rican, Cuban, and Dominican descent had higher hazards of cancer incidence; the incidence of obesity-related (HR, 2.37; 95% CI, 1.43–3.95) and tobacco-related (HR, 3.00; 95% CI, 1.58–5.71) cancers was also the highest among Puerto Ricans.

Conclusions:
Cancer IRs varied by Hispanic/Latino heritage and were masked when Hispanics/Latinos were aggregated into a single group.

Impact:
Understanding disparities in cancer risk by Hispanic/Latino heritage may help tailor cancer prevention and control strategies.
Scepticism about Meaning in the German Enlightenment
Authors: Lazurca Vladimir 
Published: January 2025

Abstract
Exegetical scepticism is a strand of scepticism about meaning running through the German Enlightenment. This paper provides the first modern account of its tenets, critics, and proponents, and argues that it shares essential features with modern varieties of meaning-scepticism that have been a preoccupation among philosophers of language since the middle of the twentieth century. I argue that exegetical scepticism is a type of epistemological scepticism first introduced as a philosophical position in a theological debate between August Pfeiffer (1640–1698) and Philipp Jacob Spener (1635–1705). Under contention, so I argue, was the idea that interpretation is never certain because it is necessarily underdetermined by the evidence. Following the effects of this controversy, I show that exegetical scepticism caused a great deal of unrest in German letters in the eighteenth century and can be seen to contribute to the great proliferation of hermeneutical theories in the Aufklärung, indeed to the very birth of hermeneutics as a standalone discipline. Bringing this type of scepticism to contemporary attention supports a reassessment of issues at the heart of meaning-scepticism and hermeneutics itself, and a reconsideration of the histories of Enlightenment scepticism and hermeneutics.
Processing poultry manure with black soldier fly technology lowers N2O and CO2 gas emissions from soil
Authors: Jenkins S.N. , Langa S.P. , Middleton J.A. , Martin B.C. , Wheat L. , Gleeson D.B. 
Published: January 2025

Abstract
Soil amended with poultry manure has many benefits including increased nutrient and organic carbon supply, enhanced soil structure and improved crop yield. However, the direct application of poultry manure to land can be associated with significant greenhouse gas (GHG) emissions. Black soldier fly (BSF) farming (Hermetia illucens) is an emerging technology that can convert manure into protein for animal feed, with larvae casting or frass produced as a waste by-product. BSF frass produced from poultry manure has potential to be used as a soil amendment with potentially lower GHG emissions than manure, but this has not been tested. To test this, a two-week microcosm experiment was used to investigate the impact of different soil amendments (poultry manure, BSF frass from poultry manure, urea and an unamended control) on nitrous oxide (N2O), carbon dioxide (CO2) and methane (CH4) emissions. This study also aimed to examine bacterial populations associated with frass and poultry manure, as well as factors regulating their composition and the production of GHGs. Frass produced by BSF larvae fed poultry manure had up to 1.4 times lower N2O and 1.5 times lower CO2 cumulative emissions than poultry manure. Methane emissions were either minimal and/or balanced by oxidation across all treatments. Processing poultry manure with BSFL also altered the bacterial community composition and resulted in a proliferation of bacteria that were specific to BSFL frass, some of which have putative plant growth promoting properties. These results indicate that BSF technology holds promise for both reducing greenhouse gas emissions from poultry manure, as well as providing a sustainable soil amendment for productive agriculture.
The Winter Storm Severity Index
Authors: Kastman Joshua S. , Tobin Dana M. , Nash Andy , Nelson James A. , Cobb Daniel K. , Harnos Kirstin J. 
Published: January 2025

Abstract
The winter storm severity index (WSSI) is a tool designed to assist National Weather Service (NWS) operational forecasters, core partners and stakeholders, media, and the public in maintaining situational awareness of anticipated winter-weather-related impacts. The NWS Weather Prediction Center (WPC) produces the WSSI several times per day by combining the current official NWS gridded forecasts from the National Digital Forecast Database (NDFD) with nonmeteorological datasets (e.g., climatology, land use, population) to create a graphical depiction of anticipated impacts to society due to winter weather. Impact severity output from the WSSI is designed to communicate spatial and temporal impact information in an easily consumable graphic. These impact scales range from minor to extreme, with a winter-weather area shown for areas where the winter-weather conditions are not expected to impact daily life. This product emerged in response to user needs for information about societal impacts that can occur from winter storm hazards. Specific hazards include snow amount, snow load, ice accumulation, flash freeze, blowing snow, and ground blizzard. The maximum value from any of these components contributes to a final overall impact component. Information about the WSSI, including a detailed overview of the product, recent social-science-backed improvements, components, and use in an operational setting are presented. Preliminary verification efforts are also detailed.

Significance Statement
The winter storm severity index (WSSI) is the first nationwide tool used operationally within the National Weather Service (NWS) to forecast impacts from winter weather. This product allows the NWS to broaden its communication options for impact-based decision support services and directly speak to potential impact severity. It also provides a concise informational graphic with actionable information that highlights and summarizes multifaceted winter-weather events that can aid in decision-making. An overview of the WSSI is presented, including highlights for its utility in an operational forecast setting and verification.
Don’t assume, ask! A focus group study on end-of-life care planning with people with intellectual disabilities from minoritised ethnic groups
Authors: Bruun Andrea , Jordan Leon , Giles Jo , Hughes Rhidian , Anderson-Kittow Rebecca , Tuffrey-Wijne Irene 
Published: January 2025

Abstract

Background
People with intellectual disabilities are less likely to have access to palliative care, and the evidence shows that their deaths are often unanticipated, unplanned for, and poorly managed. Within the general population, people from minoritised ethnic groups are under-represented within palliative care services. End-of-life care planning with people with intellectual disabilities from minoritised ethnic groups may be a way to address these issues. There is a huge gap in the evidence regarding intersectionality of intellectual disability and ethnicity within end-of-life care planning. This study explored the characteristics of effective and preferred end-of-life care planning approaches and resources for people with intellectual disabilities from minoritised ethnic groups.

Methods
Nine focus groups and three semi-structured individual interviews were held with 41 participants from minoritised ethnic groups (11 family carers; 25 support staff; and five people with intellectual disabilities). Session recordings were transcribed verbatim and analysed using the framework analytical approach.

Results
Participants thought that end-of-life care planning practices were dependent on the person’s culture, ethnicity, and religion, and that it was important to follow these at the end-of-life. They deemed it important to discover and respect (and not assume) the individual’s perspectives, values, needs, and wishes through a person-centred approach. Cultural attitudes to talking about death could hinder end-of-life care planning as participants perceived it as taboo. Disagreement was described as hindering end-of-life care planning, particularly when strong feelings about cultural and religious practices were involved. Staff highlighted the need for cultural and religious awareness, which could involve seeking information and receiving training. Opening the conversation about death and dying was seen as a potential facilitator for exploring end-of-life care planning.

Conclusions
The study was committed to addressing issues of equity, diversity, and inclusion. It is the first study to explore perspectives on end-of-life care planning with people with intellectual disabilities from minoritised ethnic groups. It was deemed important that staff did not assume but discovered and respected the views and preferences of people with intellectual disabilities regarding culture and religion. There is an urgent need for more research into end-of-life care planning with people with intellectual disabilities from minoritised ethnic groups.
Nurses’ experiences of text-based digital triage at primary healthcare centres in Sweden: a qualitative interview study
Authors: Rydell Ester , Jakobsson Ulf , Stjernswärd Sigrid 
Published: January 2025

Abstract

Background
Telehealth services are becoming increasingly popular at primary healthcare centres. Some examples include text-based digital triage and health guidance using chats, emails, images and pre-filled forms. Telephone-based communication has until recent years been the predominant means for triage and health guidance, but now includes written communication via computer or smartphone. Hence conditions to perform triage and health guidance have changed, which may affect the quality of nurses’ work and patient safety. This motivates an in-depth exploration of the consequences of such changes for nurses working with telehealth. The study aimed to explore nurses’ experiences of digital triage and health guidance at primary healthcare centres in Sweden.

Methods
A qualitative inductive design was chosen for the current study. Four registered nurses and two public health nurses, working at primary healthcare centres in southern Sweden, contributed with information about text-based digital triage and health guidance. Semi-structured interviews were conducted to collect data. Data were analysed using qualitative content analysis.

Findings
One main theme, “Adapting to a new professional toolbox to triage and give health guidance” was constructed based on three categories which describe the altered professional tools. They were: “Using one’s senses differently to collect information”, “Change of communication mode to convey messages” and “Change of timeframe and the use of time”. Six subcategories describe how the new toolbox was experienced by the nurses. They were: “Loss of clinical ear”, “Gain of viewing images”, “Difficulties in written communication of care and emotions”,
“Seeing oneself as a writer or talker”, “Tardy asynchronous communication” and
“Available time”.

Conclusion
The findings tell of a substantial change in nurses’ professional toolbox that demanded other skills than they were used to working with. Due to limitations in communication and communication skills, digital triage alone may lead to an impaired workflow, quality of care, and patient safety as well as maintain the digital divide. However, digital triage may also enhance nurses’ work with the addition of attached images, convenient communication for those who are comfortable with writing, and a gain of time for consultation and reflection. The current study contributes insights regarding new competencies that nurses and patients must have or gain to be able to benefit from the possibilities of digitisation of primary healthcare.
Synchronous clonally related anaplastic large cell lymphoma and malignant histiocytosis
Authors: Harb Mirvate , Abrassart Tom , Dewispeleare Laurent , Sidon Pierre , Dirckx Natacha , Trepant Anne-laure , Castiaux Julie , Heimann Pierre , Emile Jean-Francois , Farhat Hussein 
Published: January 2025

Abstract

Background
Synchronous malignant histiocytoses are rare conditions that occur concurrently with another hematologic neoplasm. Most reported cases are associated with B-cell lymphoproliferative disorders, while associations with T-cell hemopathies are less common. These two diseases may share mutations and/or cytogenetic anomalies, which can lead to malignant proliferations. In such cases, the term “secondary malignant histiocytosis” can be applied.

Case description
A 26-year-old patient was diagnosed with anaplastic lymphoma kinase negative anaplastic large cell lymphoma [ALK-ALCL] associated with synchronous malignant histiocytosis. Neoplastic cells were distinguished by the exclusivity of the rearrangement of TCR genes within the lymphoma cells, whereas mutations in the KRAS and TP53 genes affected mono-histiocytic cells. However, these two cells populations shared common chromosomal abnormalities. First line treatment protocol included Brentuximab vedotin, cyclophosphamide, doxorubicin, and methylprednisolone. Despite a partial clinical and biological response after cycle 1 of treatment, the patient was refractory at the end of cycle 2. Patient died in the intensive care unit from a multiple-organ failure related to lymphohistiocytic hemophagocytosis.

Conclusion
This case represents the first documented instance of synchronous malignant histiocytosis associated with anaplastic large cell lymphoma. Notably, the uniqueness of this case lies in the absence of TCR rearrangement in the histiocytic cells, despite the presence of shared chromosomal abnormalities with the lymphomatous cells indicating a common origin for both neoplastic proliferations. Considering the rarity of such occurrences, the use of histiocytosis targeted therapy alongside conventional lymphoma treatment warrants consideration in such a context.