bluuebunny/crossref_metadata_2025 huggingface dataset:
With Low Power Comes Low Credibility? Toward a Principled Critique of Results From Underpowered Tests
Authors: Lengersdorff Lukas L. , Lamm Claus
Published: January 2025

Researchers should be motivated to adequately power statistical tests because tests with low power have a low probability of detecting true effects. However, it is also often claimed that significant results obtained by underpowered tests are less likely to reflect a true effect. Here, we critically discuss this “low-power/low-credibility” (LPLC) critique from both frequentist and Bayesian perspectives. Although the LPLC critique is first and foremost a critique of frequentist tests, it is itself not consistent with frequentist theory. In particular, it demands that researchers have some information on the probability that a hypothesis is true before they test it. However, such prior probabilities are dismissed as meaningless in frequentist inference, and we demonstrate that they cannot be meaningfully introduced into frequentist thinking. Even when adopting a Bayesian perspective, however, significant results from tests with low power can provide a nonnegligible amount of support for the tested hypothesis. We conclude that even though low power reduces the chances to obtain significant findings, there is little justification to dismiss already obtained significant findings on the basis of low power alone. However, concerns about low power might often reflect suspicions that findings were produced by questionable research practices. If this is the case, we suggest that communicating these issues transparently rather than using low power as a proxy concern will be more appropriate. We conclude by providing suggestions on how results from tests with low power can be critiqued for the correct reasons and in a constructive manner.
Kriging data with measurement error: A review and a generalized approach
Authors: Silva Victor Miguel , Coimbra Costa Leite João Felipe , Deutsch Clayton V.
Published: January 2025

Filtered kriging with parametric error (FKPE) is a mathematically sound method that generalizes and addresses the oversimplifications of previous kriging algorithms designed to filter error. The proposed approach is developed for handling grade-dependent (heteroscedastic), non-stationary, and spatially correlated sampling errors. The covariance between each pair of measurements or nodes is estimated from their model of errors and the spatial continuity of the underlying process. This research is driven by the fact that sampling and analytical errors are inherent in the samples used in the mining industry. In recent decades, data from quality control programs monitoring these errors have become widely available. FKPE handles more types of errors than other kriging algorithms to filter error and, for any number of subsets, it avoids jointly modelling the models of co-regionalization required by co-kriging methods. The precision gains of FKPE over other methods depend on how well the error model is fit to the data. Therefore, a detailed analysis of the error model and how to estimate its components is discussed. In a five-data toy example with high independent and grade-dependent error, kriging methods with oversimplified error models overweighted a high-grade datum by 50% compared to FKPE estimates. The performance of FKPE and other methods is illustrated by two synthetic examples.
A Cross-sectional Study of Interrelationship Between Sleep and Sexual Dysfunction in Indian Females
Authors: Tripathi Richa , Deedwania Preeti , Koparkar Anil
Published: January 2025

Background:

Female sexual dysfunction (FSD) is a highly prevalent health problem but is often paid less attention, moreso in developing countries. There are many factors responsible for dysfunction such as disturbed sleep and mental health problems. However, it is largely understudied.

Aims and objective:

The aim of the present study was to observe the relationship between sleep and sexual functioning and to observe the relationship between mental health problems (depression and anxiety), sleep and sexual functioning.

Method:

A cross-sectional study was conducted in a tertiary health care center in India. Seventy adult female patients who were visiting Department of OBGY, OPD for any ailment, were sexually active and consenting for the study were included. The participants were evaluated on sleep, sexual activity, depression and anxiety by Pittsburgh Sleep Quality Index, Female sexual functioning index (FSFI), Beck’s depression inventory and Beck’s anxiety inventory, respectively.

Result:

The mean age of the sample was 33.5 (SD 6.2) years. Only 4% of the participants (n = 3) reported moderate to severe depression. Thirty percent of the participants (n = 21) reported mild anxiety symptoms. The median sleep latency of the participants was 42 (10,180) minutes. The mean subjective total sleep time was 356.6 (SD 60.3) minutes. 27.1% of the participants (n = 19) reported Global PSQI scores >5 suggesting sleep disturbance. Ten percent of the participants (n = 7) reported mild to moderate sexual dysfunction, 55.7% of the participants reported mild sexual dysfunction. A significant positive correlation was observed between hours of sleep and sexual satisfaction.

Conclusion:

A healthy sleep is necessary for good sexual functioning. The sexual functioning is also affected by mental health problems such as depression and anxiety in females.
A Validated Cultural Adaptation and Translation of the CLEFT-Q Patient Reported Outcome Measure (PROM) from English into Italian
Authors: Fontana Ilaria , Piscopo Kyrie , Mink van der Molen Aebele , Rezzonico Angela Alessandra , Ombashi Saranda
Published: January 2025

Cleft lip and/or palate (CL/P) is a prevalent congenital malformation, affecting approximately 1 to 7 children per 1000 live births, with consequences impacting both appearance and functional abilities such as speech, hearing, and orodental health. These factors contribute to significant psychological challenges and reduced quality of life (QoL) in affected individuals. Treatment typically involves a multidisciplinary approach that begins during pregnancy and continues into young adulthood, ideally managed by specialized centers with dedicated cleft teams. In Italy, the Cleft Center of Milan, part of the European Reference Network (ERN CRANIO), is a leading facility providing care for CL/P. International collaboration and standardized outcome measures, like Patient-Reported Outcome Measures (PROMs), are essential in ensuring high-quality patient-centered care. The CLEFT-Q is a widely used, CL/P-specific PROM developed to assess aspects of facial appearance, psychosocial well-being, and functional abilities. Though originally developed in English, the Cleft Center of Milan, along with ERN CRANIO, undertook the translation and validation of the CLEFT-Q into Italian to enable its implementation in Italy. The translation process adhered to the International Society for Pharmacoeconomics and Outcomes Research (ISPOR) guidelines and included expert review, patient interviews, and adjustments based on participant feedback. The study confirmed the effectiveness of the CLEFT-Q in capturing relevant patient-reported outcomes in Italian-speaking populations. It also highlighted the importance of standardized PROMs in improving CL/P treatment outcomes and facilitating international research collaboration. The paper concludes with recommendations for the integration of PROMs in CL/P care and explores alternative PROMs, such as the Pediatric Quality of Life Inventory (PedsQL) and the Cleft Hearing, Appearance, and Speech Questionnaire (CHASQ), which could complement the CLEFT-Q for more comprehensive patient assessments.
The antinomies of feed and feeding in animal agriculture
Authors: Mather Charles , Martin Sarah
Published: January 2025

This paper is about the environmental politics and ethics of animal agriculture through a focus on feed and feeding. We review a large and interdisciplinary body of scholarship on animal agriculture to show that the production of feed, and the feeding of animals in confined systems of production, is associated with degradation, exploitation, and violence. At the same time, and especially in the current conjuncture, feed and feeding research and scholarship highlight ways to address and mitigate animal agriculture's environmental problems while also providing hope for more ethical multispecies relations on the farm. We map the antinomies of feed and feeding through three analytical registers: feed as object, feeding as practice, and feed/ing as conversion. We argue that feed and feeding are at the center of the contemporary politics and ethics of animal agriculture — both as a site of exploitation and domination, but also as a contested promise of a more ethical and sustainable animal agriculture. Our conclusion examines how the antinomies of feed and feeding are both incompatible and yet bound together, an issue that we argue provides critical insights into the contemporary environmental politics and ethics of animal agriculture.
Bob Lake's veil of ignorance
Authors: Mitchell Don
Published: January 2025

Resist Bob Lake's theory of theory. And while his argument that he has no theory of theory is disingenuous, he is nonetheless right that it is no theory at all. It is a straw argument. And a dangerous one that suggests that ignorance is a value of the highest order. This commentary explains these claims and suggests a rather different view of what engaging with theory is all about than Bob Lake offers in his incredible caricature.
Attitudes and Perspectives of Service Providers on Persons Who Use Stimulants in Northern and Central Mexico
Authors: Rafful Claudia , Jiménez-Rivagorza Leonardo , Peralta Daniela , Medina-Mora María Elena , Mota Andrés
Published: January 2025

Background:

Methamphetamine and other stimulant use are increasing across Mexico while treatment options and public funding remain scarce for substance use treatment. This study examined the attitudes and perspectives of service providers who work with persons who use stimulants in Mexico.

Methods:

Semistructured qualitative interviews were conducted with 20 service providers in diverse cities in the northern and central regions of Mexico, from healthcare centers and harm reduction community-based organizations (CBOs). All interviews were audio-recorded, transcribed, and de-identified. We conducted a thematic analysis to identify and compare common themes and patterns among participants, including portrayal of persons who use stimulants, dynamics of use, attitudes toward persons who use stimulants, and treatment availability and effectiveness.

Results:

First, service providers considered that persons who use stimulants have more complex backgrounds than others who use other substances. Second, although most providers mentioned trauma, pain, and the risk environment, CBO providers also stressed the importance of accounting for hedonism for understanding stimulant use trajectories. Third, treatment options are based on the type of services the institutions provide, usually constrained to guidelines for any substance use. In a few cases, cocaine treatment guidelines are used regardless of the type of stimulant used. Fourth, although health care services are abstinence-based, providers acknowledge the effectiveness of harm reduction approaches. In contrast, CBOs provide person-centered options.

Conclusions:

Overall, although service providers are aware of the increase in stimulant use, stigmatizing attitudes are prominent among some of them. However, providers in CBOs were more sensitized to their communities’ specific needs. Public policy recommendations include training to eliminate institutional stigmatization, the importance of first-person language, harm reduction effectiveness, and implementing community-based interventions to improve stimulant use-related services.
Globalization, modernity, and capitalism: On Victor Roudometof's ‘How should we think about globalization in a postglobalization era?’
Authors: Ampuja Marko
Published: January 2025

Victor Roudometof's goal is to defend the analytical value of ‘globalization’ against declarations concerning its alleged obsolescence, and especially against theories that associate globalization with Eurocentric narratives of Western modernity. His aim is to demonstrate the fruitfulness of examining the interconnections between different world regions that go beyond conventional temporal frames. In this he succeeds well, but the article has some omissions and contradictions, whose consequences I address in my response. A central one of these is that Roudometof seems to subsume capitalism under modernity, or at the very least avoids integrating the unprecedented intensification of capitalist imperatives to his analysis of cultural globalization and global connectivity, which is particularly problematic in the present historical conjuncture.
Cross-Lingual English–Urdu Semantic Word Similarity Using Sentence Transformers
Authors: Muneer Iqra , Saeed Ali , Adeel Nawab Rao Muhammad
Published: January 2025

Semantic word similarity is a quantitative method of determining how much two terms are contextually identical, which is a considerable challenge for computational linguistics. The research community has examined a range of approaches to address this issue. However, most of these approaches are for a comparatively limited set of languages, especially English. Research on semantic word similarity for South Asian languages, particularly Urdu, is immature. In recent years, transformer-based approaches have proved extremely successful for a range of language processing tasks. The primary aim of this study is to develop and compare a variety of transformer-based approaches to the cross-lingual English–Urdu semantic word similarity task. This study evaluated a publicly available benchmark USWS-19 corpus that comprises 518 word pairs. This study mainly explored four types of transformer-based approaches: (a) cross-lingual sentence transformer-based approaches using the original dataset, (b) cross-lingual sentence transformer-based approaches using the translated dataset (translation plus monolingual analysis [T+MA] approach), (c) the feature fusion approach (mixture of features), and large language models. In addition, this study also explores the word embedding-based approach using the translated dataset (T+MA approach). In total, this study developed 29 transformer-based models, with the highest results (Pearson correlation = 0.788) achieved using a feature fusion approach, that is, Best-Two-SBERT (where SBERT stands for sentence-bidirectional encoder representations from transformers; using T+MA) + BEST Baseline (with Bing translator) + Best cross-lingual SBERT. This approach improved by 7% over previously reported results on the same corpus.
Calibrating collapse and fatality rates for the assessment of fatalities due to earthquakes
Authors: Ramos Salvador , Silva Vitor , Martins Luis , Paul Nicole , Vicente Romeu
Published: January 2025

In recent decades, hundreds of studies have covered seismic vulnerability assessment and the derivation of fragility models. However, these studies primarily focus on structural damage and the associated repair costs. Assessing fatalities requires an evaluation of the proportion of damaged buildings that suffer partial or total collapse, as well as the expected fatality rates for occupants inside those collapsed buildings. To support these modeling needs, we reviewed past studies on casualties, existing proposals for collapse and fatality rates, and detailed damage databases that characterize different collapse mechanisms. Based on this review, collapse and fatality rates are proposed relative to a baseline building class. These rates are further calibrated considering reported fatalities since 1950 and the average annual fatalities estimated by the Global Seismic Risk Model of the Global Earthquake Model (GEM) Foundation. Results show that the probability of collapse tends to decrease with the number of stories, while fatality rates have the opposite trend. Furthermore, an open-access database of calibrated collapse and fatality rates is provided and can be used to assess fatalities due to earthquake scenarios or in probabilistic seismic risk analysis.
Tegaserod maleate exerts anti-tumor effects on prostate cancer via repressing sonic hedgehog signaling pathway
Authors: Cai Maoping , Ge Shengdong , Hong Yaying , Chen Yao , Ren Yang-Zi , Zhong Dacai , Chen Mingkun , Liu Yuan , Chen Zhe-Sheng , Feng Ninghan , Chen Zhanghui , Zhao Shan-Chao
Published: January 2025

Prostate cancer (PCa) is a highly common type of malignancy and affects millions of men in the world since it is easy to recur or emerge therapy resistance. Therefore, it is urgent to find novel treatments for PCa patients. In the current study, we found that tegaserod maleate (TM), an FDA-approved agent, inhibited proliferation, colony formation, migration as well as invasion, caused the arrest of the cell cycle, and promoted apoptosis of PCa cells in vitro. In addition, TM suppressed the tumor growth in the cell-derived xenograft (CDX) mouse model in vivo. Mechanistically, TM exerted anti-tumor effects via downregulating GLI2, and its downtream targets, thus inhibiting the sonic hedgehog (SHH) signaling pathway. In brief, our findings demonstrated that TM effectively inhibited the activities of PCa cells by suppressing the SHH signaling pathway and provided a potential new agent for the treatment of PCa.
Formulation of maximum weight percent gain of wood impregnated with resin considering cell wall swelling and resin concentration distribution: in the impregnation of six softwood species with phenol formaldehyde resin
Authors: Tanaka Soichi , Seki Masako , Abe Mitsuru , Miki Tsunehisa
Published: January 2025

Weight percent gain (WPG) is used as an index of the quantity of impregnated resin into wood. It is well‐known that the maximum value of WPG is roughly calculated using the volume of cell lumen included in wood. In this study, we proposed the theoretical formula that calculates the maximum value of WPG (W-value), with higher accuracy by considering the cell wall swelling and resin concentration distribution as well as the cell-lumen volume. In this paper, the WPG of wood for six softwood species was measured after the injection with phenol–formaldehyde resin solution and after the subsequent conditioning and drying. The measured WPG values after each process were successfully explained by the W-value calculated using the theoretical formula. It was suggested from the calculation that the WPG was greatly influenced by the cell wall swelling and by the difference in solution concentration between the cell lumen and the transient pore in the cell wall. The influences were also suggested to be larger for wood with higher density.
Knowledge translation initiatives at the Transitional Pain Service: insights from healthcare provider outreach and patient education
Authors: Lomanowska Anna M. , Tahir Rabia , Choo Christina , Zhu Sabrina , Wang Dora Y. , Slepian P. Maxwell , Katz Joel , Clarke Hance
Published: January 2025

Evidence-based treatment of chronic pain requires a multidisciplinary approach grounded in the biopsychosocial model. Implementing this approach within health systems relies on its acceptance by both healthcare providers and patients. While pioneering multidisciplinary pain clinics can serve as a model for implementation, a systematic effort is needed to share knowledge effectively and broadly. In the current paper we provide an overview of the knowledge translation initiatives undertaken at our Transitional Pain Service (TPS) at Toronto General Hospital, a state-of-the-art multidisciplinary pain program established in 2014 for patients at risk of developing chronic pain after surgery. The TPS team strives to enhance acceptance of this model of care among patients and providers, facilitate the establishment of similar clinics, and promote patient understanding of the integrated multidisciplinary pain care approach. Guided by the Knowledge to Action (KTA) framework, knowledge translation activities undertaken by our TPS team include clinician training, resources and outreach activities for providers, and patient education. Resource development was preceded by consultation and needs assessment among patients and providers and feedback from both groups was incorporated as part of the development process. The tailored resources were disseminated via the TPS clinic website and monitoring of online usage enables continuous evaluation of engagement. Barriers to engagement with the resources were examined through patient surveys and staff interviews. Based on these activities, we offer insights gained by our team throughout the knowledge translation process and provide recommendations for other clinical teams who wish to undertake similar initiatives.
CT-sensitized nanoprobe for effective early diagnosis and treatment of pulmonary fibrosis
Authors: Hou Jiwei , Ji Qijian , Tang Tianyu , Xue Yonger , Gao Lin , Dai Li , Xie Jinbing
Published: January 2025

Early diagnosis is critical for providing a timely window for effective therapy in pulmonary fibrosis (PF); however, achieving this remains a significant challenge. The distinct honeycombing patterns observed in computed tomography (CT) for the primary diagnosis of PF are typically only visible in patients with moderate to severe disease, often leading to missed opportunities for early intervention. In this study, we developed a nanoprobe designed to accumulate at fibroblastic foci and loaded with the CT sensitizer iodide to enable effective early diagnosis of PF. An antibody fragment (Fab′) targeting the platelet-derived growth factor receptor-α, which specifically binds to (myo)fibroblasts, was conjugated to the nanoprobe surface to enhance targeting of fibroblastic foci. Additionally, collagenase was employed to facilitate nanoprobe penetration by degrading the local collagen fibers within these foci. This approach led to significant accumulation of the CT sensitizer iodide in fibrotic lung tissues, resulting in enhanced CT imaging for the detection of fibroblastic foci and enabling early diagnosis of PF. Moreover, a dual-drug combination of oltipraz and rosiglitazone was co-loaded into the nanoparticles for the treatment of early-diagnosed PF. Remarkable therapeutic efficacy was observed in model mice with early PF using these nanoparticles. Our findings present a promising strategy for the early diagnosis of PF, potentially offering a valuable time window for effective treatment of this life-threatening disease.
Ulinastatin treatment mitigates glycocalyx degradation and associated with lower postoperative delirium risk in patients undergoing cardiac surgery: a multicentre observational study
Authors: Ran Xiao , Xu Tingting , Liu Jieqiong , Yang Shaobing , Luo Fang , Wu Rongxue , Tan Juan , Ruan Hang , Zhang Qin
Published: January 2025

Background

Ulinastatin (UTI), recognized for its anti-inflammatory properties, holds promise for patients undergoing cardiac surgery. This study aimed to investigate the relationship between intraoperative UTI administration and the incidence of delirium following cardiac surgery.

Methods

A retrospective analysis was performed on a retrospective cohort of 6,522 adult cardiac surgery patients to evaluate the relationship between UTI treatment and the incident of postoperative delirium (POD) in patients ongoing cardiac surgery. This was followed by a prospective observational cohort study of 241 patients and an in vitro study to explore the findings and the potential role of UTI in preventing cardiac ischemia–reperfusion induced glycocalyx degradation.

Results

Both univariate and multivariate logistic regression analyses in retrospective cohort indicated that intraoperative administration of UTI was associated with a significant lower risk of POD among cardiac surgery patients, a finding confirmed through employing propensity score matching. The subsequent prospective observational cohort further supported these findings (adjusted Odds Ratio = 0.392, 95% CI: 0.157–0.977, P = 0.044). Furthermore, UTI mitigated glycocalyx degradation, as demonstrated by in vitro study.

Conclusions

UTI administration may mitigate glycocalyx degradation, potentially lowering the risk of POD in cardiac surgery patients, offering valuable insights for future interventions to prevent POD and enhance patient outcomes.

Trial registration number ClinicalTrials.gov (No. NCT06268249). Retrospectively registered 4 February 2024.
Determining the status of tertiary lymphoid structures in invasive pulmonary adenocarcinoma based on chest CT radiomic features
Authors: Yu Ye , Yang Tianshu , Ma Pengfei , Zeng Yan , Dai Yongming , Fu Yicheng , Liu Aie , Zhang Ying , Zhuang Guanglei , Zhou Yan , Wu Huawei
Published: January 2025

Objectives

The aim of this study was to determine the status of tertiary lymphoid structures (TLSs) using radiomic features in patients with invasive pulmonary adenocarcinoma (IA).

Methods

In this retrospective study, patients with IA from November 2015 to March 2024 were recruited from two independent centers (center 1, training and internal test data set; center 2, external test data set). TLS was divided into two groups according to hematoxylin-eosin staining. Radiomic features were extracted, and support vector machine (SVM) were implemented to predict the status of TLSs. Receiver operating characteristic (ROC) curves were used to analyze diagnostic performance. Furthermore, visual assessments of the test set were also conducted by two thoracic radiologists and compared with the radiomics results.

Results

A total of 456 patients were included (training data set, n = 278; internal test data set, n = 115; external test data set, n = 63). The area under the curve (AUC) of the radiomics model on the validation set, the internal test set, and the external test set were 0.781 (95% confidence interval (CI): 0.659–0.905;), 0.804 (95% CI: 0.723–0.884;) and 0.747 (95% CI: 0.621–0.874;), respectively. In the visual assessments, the mean CT value and air bronchogram were important indicators of TLS, the AUC was 0.683. In the external test set, the AUC of the clinical model was 0.632.

Conclusions

The radiomics model has a higher AUC than the clinical model and effectively discriminates TLSs in patients with IA.

Critical relevance statement

This study demonstrates that the radiomics-based model can differentiate TLSs in patients with IA. As a non-invasive biomarker, it enhances our understanding of tumor prognosis and management.

Key Points

TLSs are closely related to favorable clinical outcomes in non-small cell lung cancer.

Radiomics from Chest CT predicted TLSs in patients with IA.

This study supports individualized clinical decision-making for patients with IA.

Graphical Abstract
Gardnerella vaginalis-binding IgA in the urethra of sexually experienced males
Authors: Liu Rachel , Galiwango R. M. , Park Daniel , Huibner Sanja , Aziz Maliha , Anok Aggrey , Nnamutete James , Isbirye Yahaya , Wasswa John Bosco , Male Deo , Kigozi Godfrey , Tobian Aaron A. R. , Prodger Jessica L. , Liu Cindy , Coburn Bryan , Kaul Rupert
Published: January 2025

Background

Genital inflammation increases HIV susceptibility and is associated with the density of pro-inflammatory anaerobes in the vagina and coronal sulcus. The penile urethra is a critical site of HIV acquisition, although correlates of urethral HIV acquisition are largely unknown. While Streptococcus mitis is a consistent component of the urethral flora, the presence of Gardnerella vaginalis has been linked with prior penile-vaginal sex and urethral inflammation. Here, we use a flow cytometry-based bacterial assay to quantify urethral IgA and IgG that bind G. vaginalis and S. mitis in a cross-sectional cohort of 45 uncircumcised Ugandan men and to evaluate their association with the urethral microbiome and local soluble immune factors.

Results

Urethral antibodies binding both bacterial species were readily detectable, with G. vaginalis predominantly bound by IgA, and S. mitis equivalently by IgA and IgG. Gardnerella vaginalis-binding IgA was elevated in participants with detectable urethral Gardnerella, with the latter only present in participants who reported prior penile-vaginal sex. In contrast, detectable urethral S. mitis was not associated with sexual history or levels of S. mitis-binding IgA/IgG. The time from the last penile-vaginal sex was inversely correlated with the urethral concentrations of total IgA, G. vaginalis-binding IgA, and chemokines IL-8 and MIP-1β; these inflammatory chemokines were independently associated with higher total IgA concentration, but not with G. vaginalis-binding IgA.

Conclusions

This first description of microbe-binding antibodies in the penile urethra suggests that urethral colonization by Gardnerella after penile-vaginal sex specifically induces a G. vaginalis-binding IgA response. Prospective studies of the host-microbe relationship in the urethra may have implications for the development of vaccines against sexually-transmitted bacteria.
A novel compound heterozygous mutation in the DYNC2H1 gene in a Chinese family with Jeune syndrome
Authors: Xiong Sujie , Hu Guangyao , Zhou Yao , Sun Fei , Ma Yanlin
Published: January 2025

Background

The dynein cytoplasmic two heavy chain 1 (DYNC2H1) gene encodes a cytoplasmic dynein subunit. Cytoplasmic dyneins transport cargo towards the minus end of microtubules and are thus termed the “retrograde” cellular motor. Mutations in DYNC2H1 are the main causative mutations of short rib-thoracic dysplasia syndrome type III with or without polydactyly (SRTD3). Early diagnosis of SRTD3 prenatally by ultrasound alone is difficult. In this case, a couple who gave birth to three consecutive babies with SRTD3 requested fertility guidance to avoid having another baby with SRTD3.

Methods

Cytogenetic and molecular genetic analyses of amniotic fluid via whole-genome sequencing (WGS), routine G-banded karyotype analysis, fluorescent quantitative polymerase chain reaction, and whole-exome sequencing (WES) were performed at 19 weeks. Peripheral blood samples from the parents were also screened by Sanger sequencing for SRTD3-related mutations.

Results

Two compound heterozygous mutations, c.10,594 C > T and c.7720G > A, in the DYNC2H1 gene were identified, which were inherited from the mother and father, respectively. The foetus’s mother is heterozygous for the c.10,594 C > T variant, and the foetus’s father is heterozygous for the c.7720G > A variant. The mutation c.10,594 C > T, which is a nonsense mutation believed to be pathogenic, has been previously reported. The mutation c.7720G > A, which is a missense mutation, has yet to be reported. Moreover, no chromosomal abnormalities or pathogenic copy number variations (CNVs) were detected in the foetus. The patient did not become pregnant after PGT-M and IVF-ET. This family subsequently accepted donated eggs; a successful pregnancy occurred, and a healthy girl was born.

Conclusion

The compound heterogeneous mutations in DYNC2H1 ultimately accounts for the diversity of disease phenotypes reported in this study and can be used to guide future pregnancies. Our findings expand the mutation spectrum of DYNC2H1 in this rare disease and highlight the value of WES in the diagnosis of skeletal dysplasia with unclear prenatal indications.
CompositIA: an open-source automated quantification tool for body composition scores from thoraco-abdominal CT scans
Authors: Cabini Raffaella Fiamma , Cozzi Andrea , Leu Svenja , Thelen Benedikt , Krause Rolf , Del Grande Filippo , Pizzagalli Diego Ulisse , Rizzo Stefania Maria Rita
Published: January 2025

Background

Body composition scores allow for quantifying the volume and physical properties of specific tissues. However, their manual calculation is time-consuming and prone to human error. This study aims to develop and validate CompositIA, an automated, open-source pipeline for quantifying body composition scores from thoraco-abdominal computed tomography (CT) scans.

Methods

A retrospective dataset of 205 contrast-enhanced thoraco-abdominal CT examinations was used for training, while 54 scans from a publicly available dataset were used for independent testing. Two radiology residents performed manual segmentation, identifying the centers of the L1 and L3 vertebrae and segmenting the corresponding axial slices. MultiResUNet was used to identify CT slices intersecting the L1 and L3 vertebrae, and its performance was evaluated using the mean absolute error (MAE). Two U-nets were used to segment the axial slices, with performance evaluated through the volumetric Dice similarity coefficient (vDSC). CompositIA’s performance in quantifying body composition indices was assessed using mean percentage relative error (PRE), regression, and Bland–Altman analyses.

Results

On the independent dataset, CompositIA achieved a MAE of about 5 mm in detecting slices intersecting the L1 and L3 vertebrae, with a MAE < 10 mm in at least 85% of cases and a vDSC greater than 0.85 in segmenting axial slices. Regression and Bland–Altman analyses demonstrated a strong linear relationship and good agreement between automated and manual scores (p values < 0.001 for all indices), with mean PREs ranging from 5.13% to 15.18%.

Conclusion

CompositIA facilitated the automated quantification of body composition scores, achieving high precision in independent testing.

Relevance statement

CompositIA is an automated, open-source pipeline for quantifying body composition indices from CT scans, simplifying clinical assessments, and expanding their applicability.

Key Points

Manual body composition assessment from CTs is time-consuming and prone to errors.

CompositIA was trained on 205 CT scans and tested on 54 scans.

CompositIA demonstrated mean percentage relative errors under 15% compared to manual indices.

CompositIA simplifies body composition assessment through an artificial intelligence-driven and open-source pipeline.

Graphical Abstract
Concomitant Exacerbation of Graves Orbitopathy and Double-Seronegative Myasthenia Gravis after SARS-CoV-2 Infection
Authors: Nakano Yuto , Takeshima Ken , Furukawa Yasushi , Morita Shuhei , Sakata Mayumi , Matsuoka Taka-Aki
Published: January 2025

SARS-CoV-2 infection could trigger autoimmune disease. We report a case of concomitant exacerbation of Graves orbitopathy (GO) and myasthenia gravis (MG) after SARS-CoV-2 infection. A 43-year-old woman had diplopia, proptosis, and swollen eyelids. Blood tests showed thyrotoxicosis and positive thyroid-stimulating hormone receptor antibodies, and orbital magnetic resonance imaging (MRI) showed enlarged extraocular muscles. She was therefore referred to our hospital with diagnosis of GO. Methylprednisolone pulse therapy (MPT) in combination with orbital radiotherapy were performed for 3 weeks, and ocular symptoms improved. At 41 weeks, the patient was infected with SARS-CoV-2 and felt sudden worsening of diplopia and ptosis. MRI showed an enlarged right inferior rectus muscle. MPT and orbital radiotherapy were performed again for 3 weeks for the suspected GO, but there was insufficient improvement of the ptosis. Serum antiacetylcholine receptor and anti–muscle-specific tyrosine kinase antibodies were negative, but the patient was further evaluated with repetitive nerve stimulation test and ice pack test, and diagnosis was double-seronegative MG. Pyridostigmine treatment led to dramatic improvement of the ptosis. SARS-CoV-2 infection could exacerbate MG as well as GO. Careful diagnosis is required for ocular symptoms after SARS-CoV-2 infection, especially when there is double-seronegative MG.
Mapping a South Asian Sacred Journey
Authors: Poddar Neeraja
Published: January 2025

From at least the sixteenth century, bilampau—horizontal, scroll-like paintings recounting mythological tales—were produced in Nepal. They typically comprise two or three registers where the narrative unfolds sequentially from left to right, top to bottom. A bilampau from circa 1800 is distinctive in that it portrays the pilgrimage—undertaken to this day—to the holy lake of Gosainkund. My article analyzes this singular work of art and imagines how viewers might have engaged with it. It probes how the format of this painting lends itself to the creation of a sacred map, with towns, rivers, and monuments plotted in relation to each other as they might be encountered on a journey. Like the pilgrims in the painting who make their way north through the Kathmandu Valley, the bilampau invites viewers to walk along its length in the direction of Gosainkund; they may choose to stop at any of the numerous sacred spots scattered throughout the landscape. The remnants of ritual substances smeared and sprinkled on the deity represented within the holy lake are still visible, suggesting the painting was once an icon and that worshipping it was perhaps a potent stand-in for a physical pilgrimage.
Cognitive Benefits of Open-Skill Sports in Childhood: Evidence from the ABCD Study
Authors: Shih Chia-Hao , Broadnax Michaela , Eckner James , Veliz Philip , Varangis Eleanna
Published: January 2025

Background

Sports participation in childhood is known to benefit physical health, but its impact on cognitive development, particularly comparing open-skill and closed-skill sports, is less understood.

Methods

This study analyzed baseline data from the Adolescent Brain Cognitive Development (ABCD) study, comprising 11,869 children aged 9-10 years. Participants were categorized into open-skill sports group (OSG), closed-skill sports group (CSG), and non-sport group (NSG). Cognitive performance was assessed using seven tasks from the NIH Toolbox, covering executive function, processing speed, and language domains. Group differences were examined using ANCOVA, controlling for sex, race, parental education, income, Area Deprivation Index (ADI), body mass index (BMI), and total time spent in activities.

Results

In the final analytical sample of 9,898 ABCD participants, the OSG outperformed both the CSG and NSG on executive function tasks, including the Flanker task (p < .01) and List Sorting Working Memory task (p < .01). No significant group differences were found on tasks assessing processing speed, or language domains.

Conclusions

Our findings suggest that participation in open-skill sports may be associated with enhanced cognitive performance in childhood, particularly in executive function and working memory. These results support the idea that dynamic and cognitively demanding activities could play a role in cognitive development during key developmental periods
Long-Term Relationships in the US Truckload Freight Industry
Authors: Harris Adam , Nguyen Thi Mai Anh
Published: January 2025

This paper provides evidence on the scope and incentive mechanisms of long-term relationships in the US truckload freight industry. In this setting, shippers and carriers engage in repeated interactions under fixed-rate contracts that allow for inefficient opportunism. The main dynamic mechanism involves shippers using the threat of relationship termination to deter carriers from short-term opportunism. This threat and the potential of future rents induce more carrier cooperation. We test this mechanism against likely alternatives and analyze relationship scope for different carrier types. We find that incentive schemes do not exploit the full temporal and spatial scope of relationships. (JEL D22, D82, L14, L92)
Eliciting Time Preferences When Income and Consumption Vary: Theory, Validation, and Application to Job Search
Authors: Belot Michèle , Kircher Philipp , Muller Paul
Published: January 2025

We propose a simple method for eliciting individual time preferences without estimating utility functions even in settings where background consumption changes over time. It relies on eliciting preferences for receiving high stakes lottery tickets at different points in time. In a standard intertemporal choice model high rewards decouple lottery choices from variation in background consumption. We investigate robustness to other assumptions theoretically, and validate our elicitation method experimentally. We illustrate an application of our method with unemployed job seekers, which naturally have income/consumption variation. (JEL D12, D15, D91, G51, J22, J64)
Triplet Embeddings for Demand Estimation
Authors: Magnolfi Lorenzo , McClure Jonathon , Sorensen Alan
Published: January 2025

We propose a method to augment conventional demand estimation approaches with crowd-sourced data on the product space. Our method obtains triplets data (“product A is closer to B than it is to C”) from an online survey to compute an embedding—i.e., a low-dimensional representation of the latent product space. The embedding can either replace data on observed characteristics in mixed logit models, or provide pairwise product distances to discipline cross-elasticities in log-linear models. We illustrate both approaches by estimating demand for ready-to-eat cereals; the information contained in the embedding leads to more plausible substitution patterns and better fit. (JEL C45, C51, D11, D12, D21, L66)
Eliciting Ambiguity with Mixing Bets
Authors: Schmidt Patrick
Published: January 2025

Preferences for mixing can reveal ambiguity perception and attitude on a single event. The validity of the approach is discussed for multiple preference classes, including maxmin, maxmax, variational, and smooth second-order preferences. An experimental implementation suggests that participants perceive almost as much ambiguity for the stock index and actions of other participants as they do for the Ellsberg urn, indicating the importance of ambiguity in real-world decision-making. (JEL C72, D11, D12, D81)
Διερεύνηση των παραγόντων που σχετίζονται με τη συμμόρφωση των οροθετικών γυναικών και ασθενών στην αντιρετροϊκή αγωγή κατά τη διάρκεια της εγκυμοσύνης
Authors: Ποντίκη Γεωργία
Published: January 2025

Εισαγωγή: Σε παγκόσμιο επίπεδο έχει υπολογιστεί ότι περί το 1,3 εκατομμύρια HIV οροθετικών γυναικών ετησίως, καθίστανται έγκυες. Από αυτές, ποσοστό μεγαλύτερο του 85% έχουν πρόσβαση στην αντιρετροϊκή αγωγή (ART), με αποτέλεσμα να υπάρξει μία μεγάλη μείωση της κάθετης μετάδοσης στο παιδί. Η συμμόρφωση στην αντιρετροϊκή αγωγή είναι μια πολύ βασική παράμετρος που διασφαλίζει την επιτυχία της θεραπευτικής παρέμβασης και επηρεάζεται από διάφορους παράγοντες που αφορούν το άτομο, το σύστημα υγείας και το πολιτικό και κοινωνικο-οικονομικό περιβάλλον. Σκοπός: Η διερεύνηση του βαθμού συμμόρφωσης των HIV οροθετικών γυναικών και ασθενών στην αντιρετροϊκή αγωγή κατά τη διάρκεια της εγκυμοσύνης. Μεθοδολογία: Πρόκειται για μια συγχρονική περιγραφική μελέτη με δείγμα 200 HIV οροθετικές και νοσούσες εγκύους. Η συλλογή των δεδομένων πραγματοποιήθηκε σε τρία κέντρα αναφοράς του AIDS στην Αθήνα μέσω ερωτηματολογίου και διήρκησε από τον Νοέμβριο του 2019 έως και τον Σεπτέμβριο του 2021. Για την ανάλυση χρησιμοποιήθηκε το στατιστικό πρόγραμμα SPSS 22.0. Τα επίπεδα σημαντικότητας ήταν αμφίπλευρα και η στατιστική σημαντικότητα τέθηκε στο 0,05.Αποτελέσματα: Το δείγμα της μελέτης αποτέλεσαν 200 γυναίκες ηλικίας 20-55 ετών, με μέση ηλικία τα 32,9 έτη. Το 67,5% των συμμετεχουσών ήταν Ελληνίδες, το 40,5% ήταν απόφοιτες λυκείου και η πλειονότητα τους (65,0%) διέμενε μόνο με τοviiiσύζυγο / σύντροφό τους. Το 95,5% θεωρούσε ότι η σταθερή επαφή με μαία/-ευτή συμβάλει στην καλύτερη συμμόρφωση στην θεραπευτική αγωγή και το 34,0% είχε χαμηλή κοινωνική στήριξη. Η βαθμολογία γνώσεων διέφερε σημαντικά ανάλογα με το εκπαιδευτικό επίπεδο και το επίπεδο κοινωνικής στήριξης (p<0,001 και για τα δύο). Θετικότερες στάσεις απέναντι στην ορθή χρήση φαρμάκων, είχαν οι Ελληνίδες, οι εργαζόμενες, εκείνες που αναφέρονται σε νοσοκομείο με εξειδικευμένα προγράμματα για την παρακολούθηση της εγκυμοσύνης γυναικών με HIV λοίμωξη (p<0,001 αντίστοιχα) και εκείνες που δεν έκαναν χρήση εξαρτησιογόνων ουσιών (p<0,003). Το 13,0% των συμμετεχουσών δεν είχαν συμμορφωθεί στην αγωγή. Σημαντικά υψηλότερη βαθμολογία γνώσεων (p<0,025) και στάσεων (p<0,011) είχαν οι συμμετέχουσες που είχαν συμμορφωθεί στην αγωγή. Συμπεράσματα: Η συμμόρφωση στην θεραπευτική αγωγή είναι μία σύνθετη συμπεριφορά που καθορίζεται από παράγοντες που σχετίζονται με τον θεραπευόμενο, τους επαγγελματίες υγείας και τα Συστήματα Υγείας. Ο ρόλος των επαγγελματιών υγείας ως προς την επίτευξη της επιθυμητής συμμόρφωσης στην αντιρετροϊκή αγωγή είναι ουσιαστικός και η ανάπτυξη σχέσεων εμπιστοσύνης μεταξύ ασθενούς και επαγγελματία υγείας στην περίπτωση αυτή είναι καθοριστικής σημασίας.
Alteration in central vascular and cognitive functions during simulated work conditions in males – a secondary analysis from a randomised controlled trial
Authors: Shruthi P Poovitha , Chandran M Obhuli , Chandrasekaran Baskaran , K. Vaishali , Sugumar Suresh , Kadavigere Rajagopal
Published: January 2025

Background Alteration in the central vascular hemodynamics is speculated to influence cognitive functions, including executive functions in young adults. Prolonged sitting is associated with compromised central vascular functions, which activity micro-breaks could mitigate. However, the association between the carotid vascular hemodynamic alteration and the executive functions is yet to be explored. Methods We administered a randomised controlled trial investigating the effects of various intensities' micro-breaks on central vascular and cognitive functions during simulated work conditions for four hours. The carotid artery hemodynamics and cognitive functions were measured by Duplex ultrasound at 0th, 2nd and 4th  hour and computer-based Flanker tests at 0th, 1st, 2nd, 3rd and 4th hour of visit days, respectively. From the randomised controlled trial, we extracted the secondary data of carotid artery hemodynamics and cognitive functions change at the 4th hour from the baseline and analysed for any relation. Results Though we observed linear relation between the carotid artery hemodynamics and the executive functions, the relation was not statistically significant. we found a significant reduction in carotid artery diameter during prolonged sitting (0.03 cm [95%CI 0.01, 0.05]), velocity (10.35 cm/s [95%CI -2.85, 17.86]) and shear rate during interrupted sitting (174.39 [95%CI 65.67, 283.11]) We found increased accuracy during prolonged sitting (12.7% [95%CI 0.66, 24.81]) and sitting with light-intensity activity breaks (6.92% [95%CI 1.39, 12.44]). We did not find any significant relation between the change in central vascular functions (carotid artery diameter, velocity, shear rate and blood flow) and the cognitive functions during three different work conditions. Conclusion Though a significant relation between carotid artery function and cognitive function could not be established, microbreaks can mitigate the vascular and cognitive risks associated with prolonged sitting.
The genome sequence of Trichoderma cf. citrinoviride Bissett
Authors: Buddie Alan , Douglas Brian , Gaya Ester , Druzhinina Irina S. ,   Royal Botanic Gardens Kew Genome Acquisition Lab,   Darwin Tree of Life Barcoding collective,   Wellcome Sanger Institute Tree of Life Management, Samples and Laboratory team,   Wellcome Sanger Institute Scientific Operations: Sequencing Operations,   Wellcome Sanger Institute Tree of Life Core Informatics team,   Tree of Life Core Informatics collective,   Darwin Tree of Life Consortium
Published: January 2025

We present a genome assembly from a specimen of Trichoderma citrinoviride (Ascomycota; Sordariomycetes; Hypocreales; Hypocreaceae). The genome sequence has a total length of 32.90 megabases. Most of the assembly is scaffolded into 7 chromosomal pseudomolecules. The mitochondrial genome has also been assembled and is 45.11 kilobases in length.