bluuebunny/crossref_metadata_2025 huggingface dataset:
Minimal extra-cardiac atherosclerosis present in young people with sudden cardiac death due to coronary artery disease
Authors: Paratz Elizabeth D , Fahy Louise , Nehme Ziad , Pflaumer Andreas , Stub Dion , La Gerche Andre
Published: January 2025

Aims

This study aims to define the association between severe coronary artery disease and widespread atherosclerosis in younger individuals.

Methods and results

Individuals aged 1–50 years with sudden cardiac death (SCD) from 2019 to 2023, autopsy proven to be due to coronary artery disease, were identified using the state-wide EndUCD registry. The presence of extra-coronary atherosclerosis greater than modified American Heart Association Class III was assessed in five arterial beds (intra-cerebral vessels, aorta, and carotid, renal, and femoral arteries). A total of 3044 individuals experienced SCD; 356 were due to coronary artery disease and 64 (18.0%) had extra-coronary plaque. Plaque was identified in aorta (61/356 patients, 17.1%), carotid arteries (9/356, 2.5%), iliofemoral arteries (11/356, 3.1%), intracerebral arteries (4/153, 2.6%), and renal arteries (6/356 patients, 1.7%). The only feature associated with extra-coronary plaque was older age (median 47.8 vs. 44.4 years, P = 0.0002). Patients with extra-coronary plaque had higher rates of cardiomegaly (67.2% vs. 50.7%, P = 0.022), cardiac fibrosis indicative of previous myocardial infarction (45.3% vs. 31.2%, P = 0.030), and multi-vessel coronary disease (72.6% vs. 55.6%, P = 0.014).

Conclusion

Fewer than one in five people aged 1–50 years experiencing SCD from a coronary cause exhibit extra-coronary plaque, suggesting that in young people, severe atherosclerosis is not necessarily a systemic disease. This limits the utility of screening for carotid or aortic plaque to predict coronary atherosclerosis on an individual level. Individuals with extra-coronary plaque were older with more established coronary disease.
A timescale for the evolutionary history of sea spiders (Arthropoda: Pycnogonida)
Authors: Nava Morena , Álvarez-Carretero Sandra , Garwood Russell J , Donoghue Philip C J , Sabroux Romain , Pisani Davide
Published: January 2025

Sea spiders (Arthropoda: Pycnogonida) are an ancient lineage of chelicerates represented by a single living order, Pantopoda, and a patchy fossil record that provides limited information of their evolutionary timescale. The sudden appearance of Pantopoda in the Middle Jurassic has led several authors to propose a recent (Early Jurassic) origin and rapid diversification of modern pycnogonids. In contrast, a recent molecular clock study suggested Pantopoda originated before the Devonian, and diversified slowly, though the calibrations on which it was based have since been revised. Here, we conduct timetree inference analyses using a set of 13 mitochondrial protein-coding genes, 18S rRNA sequences and 98 Ultra Conserved Elements from 198 pycnogonid taxa, with calibrations reflecting the most recent interpretations of the sea spider fossil record. Our analyses estimate that pycnogonids diverged from other arthropods during the Cambrian (539-510 Ma), indicating about 100 Myr between Pycnogonida origin and pantopod diversification. The pycnogonid crown group (=Pantopoda) diversified during the Late Palaeozoic, in an interval spanning the Early Silurian and the Late Devonian (435-367 Ma), preceding the appearance of the first pantopod fossil by ~206.5 Myr. Our analysis also implies that pantopod families originated between the Late Devonian and the Late Jurassic (378-154 Ma). This leads to very different estimates to previous studies based on the fossil record. However, previous molecular divergence time analyses yielded a similar evolutionary timescale, despite a notably different set of calibrations. This effective corroboration of previous evidence indicates that the underpinning molecular evidence is informative and that the inferred long ghost lineages faithfully reflect the patchy nature of the pycnogonid fossil record which results from their low fossilisation potential. Regardless, our results predict further fossil discoveries from different environments and periods, which might at least partially rewrite pycnogonid history.
Shrouded in Secrecy: Explaining Why Some Countries Refuse to Disclose Their Military Aid to Ukraine
Authors: Ghincea Marius
Published: January 2025

This research note examines the communication strategies employed by Central and Eastern European (CEE) countries in disclosing or withholding information about their military aid to Ukraine following the Russian invasion. Using a comparative case study design, this research note analyzes the contrasting approaches of Romania and Poland. It explores three competing explanations for the secrecy or transparency surrounding military aid: domestic backlash avoidance, external security considerations, and bureaucratic culture. The findings reveal that electoral incentives drove both Romania's secrecy and Poland's transparency. This research note makes an empirical contribution to the understanding of foreign policy secrecy and the politics of military assistance in international relations, highlighting how political leaders may rely on secrecy to prevent the politicization of military aid.
Mapping organism-wide single cell mRNA expression linked to extracellular vesicle biogenesis, secretion and cargo
Authors: LaRocca Thomas J , Lark Daniel S
Published: January 2025

Extracellular vesicles (EVs) are functional lipid-bound nanoparticles trafficked between cells and found in every biofluid. It is widely claimed that EVs can be secreted by every cell, but the quantity and composition of these EVs can differ greatly among cell types and tissues. Defining this heterogeneity has broad implications for EV-based communication in health and disease. Recent discoveries have linked single-cell EV secretion to the expression of genes encoding EV machinery and cargo. To gain insight at single-cell resolution across an entire organism, we compared the abundance, variance and co-expression of 67 genes involved in EV biogenesis and secretion, or carried as cargo, across >44,000 cells obtained from 117 cell populations in the Tabula Muris.
A generalized structured coalescent for purifying selection without recombination
Authors: Strütt Stefan , Excoffier Laurent , Peischl Stephan
Published: January 2025

Purifying selection is a critical factor in shaping genetic diversity. Current theoretical models mostly address scenarios of either very weak or strong selection, leaving a significant gap in our knowledge. The effects of purifying selection on patterns of genomic diversity remain poorly understood when selection against deleterious mutations is weak to moderate, particularly when recombination is limited or absent. In this study, we extend an existing approach, the fitness-class coalescent, to incorporate arbitrary levels of purifying selection in haploid populations. This model offers a comprehensive framework for exploring the influence of purifying selection in a wide range of demographic scenarios. Moreover, our research reveals potential sources of qualitative and quantitative biases in demographic inference, highlighting the significant risk of attributing genetic patterns to past demographic events rather than purifying selection. This work expands our understanding of the complex interplay between selection, drift, and population dynamics, and how purifying selection distorts demographic inference.
Gender and educational trends in lifetime risk, age at onset, expectancy, and survival with cardiovascular disease in Finland, 1996-2020
Authors: Sharma Shubhankar , Martikainen Pekka , Myrskyla Mikko , Tarkiainen Lasse , Suulamo Ulla
Published: January 2025

Objectives

Cardiovascular disease (CVD) is the leading cause of mortality globally. Examining trends in CVD burden and associated sociodemographic disparities can contribute to tailoring policies that promote cardiovascular health and narrow health disparities. However, existing studies predominantly focus only on mortality. Therefore, we provide a more comprehensive understanding of CVD trends by studying the diverse aspects of CVD burden: lifetime risk, onset age, CVD-free and CVD life expectancy, and survival with CVD. We focus on the overall Finnish population in 1996-2020, as well as gender and educational disparities.

Methods

We use sociodemographic information from individual-level population registers, which are linked to hospital discharge and Death Registers, on the entire Finnish population aged 40-100 years in five five-year periods in 1996–2020 (N=2,796,732–3,273,232). We employed multistate models to derive the study metrics.

Results

Overall, CVD’s lifetime risk stabilizes at 72% following a rise, with onset age and CVD-free life expectancy increased by 3 years. Although men bear a higher CVD burden, they experience a greater increase in onset age and CVD-free expectancy than women. Educational disparities in CVD-free expectancy persist, exceeding 3.5 years for men and women. Furthermore, survival with CVD has extended by 2.8 years but educational disparities widen.

Discussion

Despite the encouraging CVD trends in the overall population and progress in narrowing gender disparities, there remains considerable room for further improvement. Persistent educational disparities in CVD burden underscore the need for more effective interventions to address enduring inequalities.
Social connectedness in older adults: The potential of social internet use to maintain a strong and stable personal network
Authors: Janssen Jeroen H M , van Tilburg Theo G , van Ingen Erik J , Corten Rense , Peeters G M E E (Geeske)
Published: January 2025

Objective

Maintaining a strong social network in later life can be challenging due to limited resources, life events, and changes in health. Social internet use provides an accessible way for communication that is less susceptible to age-related challenges. Although social internet use is increasingly used by older adults, we do not know how social internet use shapes older adults’ offline networks. The purpose of this study is to examine whether social internet use can help maintain strong social relationships.

Methods

We used data from three waves (2012-2013, 2015-2016, and 2018-2019) of the Longitudinal Aging Study Amsterdam. Our sample included 2,266 older adults aged 55-99 (mean = 68.2 years, 54% female). We included the frequency of social internet use and computed personal network size, contact frequency, and the number of continued, gained, and lost ties over time. Hybrid models were applied to disentangle between within- and between-person associations.

Results

More frequent social internet users had significantly larger personal networks and, relative to the previous wave, more continued and gained network ties, compared to less frequent social internet users. A within-person increase in social internet use over time was associated with more continued and gained ties.

Discussion

Social internet use may help maintain a strong and stable network, which is important for social connectedness in later life. It allows for additional interaction opportunities, as well as network maintenance and growth. Social internet use thus proves to be a valuable addition to the social interaction resources of older adults.
The 2023 Mw 6.9 Sarez, Tajikistan earthquake: subparallel faulting and distributed deformation of the Pamir
Authors: Huang Xing , Jolivet Romain , Li Yanchuan , Shan Xinjian , Raimbault Bryan
Published: January 2025

The central Pamir plateau moves northward and collides into Eurasia at a rate that varies significantly over its 600-km-wide extension. However, the active structures accounting for such internal shear strain remain enigmatic. In this study, we use Interferometric Synthetic Aperture Radar (InSAR) data to investigate the coseismic and post-seismic deformation of the ${M}_{\rm w}\,6.9$ Sarez earthquake on 23 February 2023. Using a Bayesian framework, we find the most likely seismogenic fault geometry and explore the full solution space of slip distributions. Our results highlight the main shock ruptures a nearly NNE fault dipping to the southeast. The finite-fault model exhibits a purely left-lateral strike-slip mechanism with little to no slip reaching the surface. Most of the coseismic slip remains confined to a depth of ∼5 to 20 km, consistent with a large shallow slip deficit. Post-seismic afterslip, which decays rapidly within the month following the main shock, cannot compensate for such coseismic shallow slip deficit. Integrating the analysis of coseismic slip, post-seismic deformation and regional seismic activity, we argue that in the central Pamir, significant north–south shear strain is accommodated along multiple parallel faults, often unmapped, hence posing a significant seismic hazard.
Higher than expected telemedicine use by racial and ethnic minority and cognitively impaired Medicare beneficiaries
Authors: Cui Manying (Mandy) , Leng Mei , Arbanas Julia , Romanov Artem , Tseng Chi-Hong , Wei Melissa Y , Damberg Cheryl L , Harawa Nina , Mafi John N , Sarkisian Catherine
Published: January 2025

Although pandemic-era telemedicine flexibilities may have preserved access to care, concerns remain that telemedicine may have been inequitably distributed among older adults, especially those with mild cognitive impairment or dementia (MCID). As telemedicine flexibilities are set to fully expire on December 31, 2024, we aimed to examine pandemic-era and future-intended telemedicine use among older Americans to help inform post-pandemic telemedicine policy design. We hypothesized that telemedicine would be disproportionately underutilized among older adults with MCID or with racial and ethnic minority status. We used nationally representative survey data from the Health and Retirement Study and analyzed pandemic-era and future-intended telemedicine use among 10 075 Medicare beneficiaries aged >50 years during 2020–2022 by cognition across beneficiaries-level characteristics such as age, gender, insurance status, education, and multimorbidity. Results were adjusted by survey weights and nonresponse rates for national representativeness. Contrary to our hypothesis, compared with White Medicare beneficiaries, Hispanic and Black beneficiaries with normal cognition reported 44% and 57% greater pandemic-era and future-intended telemedicine use, respectively, while Black beneficiaries with MCID reported 57% greater pandemic-era telemedicine use. Our findings suggest that pandemic-era telemedicine utilization was especially common among racial and ethnic minority groups and those with MCID.
Characterization of a novel GRHL2 mutation reveals molecular mechanisms underlying autosomal dominant hearing loss (DFNA28): insights from structural and functional studies
Authors: Oziębło Dominika , Bałdyga Natalia , Leja Marcin L , Jarmuła Adam , Wilanowski Tomasz , Skarżyński Henryk , Ołdak Monika
Published: January 2025

The GRHL2 gene, encoding the Grainyhead-like 2 transcription factor, is essential for various biological processes. While GRHL2 has a complex role in cancer biology, its genetic variants have been also implicated in different forms of hearing loss (HL), including autosomal dominant non-syndromic hearing loss (DFNA28). Here, we report a novel c.1061C>T, p.(Ala354Val) mutation within the DNA binding domain (DBD) of GRHL2 that was identified in a three-generation HL family using a targeted multi-gene panel covering 237 HL-related genes. Unlike the previously reported DFNA28-causing variants that result in protein truncation, the impact of the p.(Ala354Val) missense change cannot be attributed to GRHL2 transcript level or composition, but to an alteration in protein function. Molecular dynamics simulations revealed destabilization of the p.(Ala354Val) mutant GRHL2 dimer interface and an altered DNA binding dynamics, leading to chaotic interaction patterns despite increased binding affinity to DNA. Functional assays demonstrated that the p.(Ala354Val) mutation and other DFNA28-related mutations in the DBD lead to loss of GRHL2 transcriptional transactivation activity, while the p.(Arg537Profs*11) mutation in the dimerization domain results in a gain-of-function effect. The findings indicate that both GRHL2 haploinsufficiency and gain-of-function contribute to HL and underscore the complex regulatory role of GRHL2 in maintaining proper function of the auditory system. Our study emphasizes the need to consider structural and functional aspects of gene variants to better understand their pathogenic potential. As GRHL2 is involved in a multitude of cellular processes, the data gathered here can be also applicable to other conditions.
Safety and Efficacy of Fecal Microbiota, Live-jslm (REBYOTA®), for the Prevention of Recurrent Clostridioides difficile Infection in Participants With Inflammatory Bowel Disease in PUNCH CD3-OLS
Authors: Allegretti Jessica R , Feuerstadt Paul , Knapple Whitfield L , Orenstein Robert , Pinton Philippe , Sheh Alexander , Khanna Sahil
Published: January 2025

Background

Fecal microbiota, live-jslm (RBL; REBYOTA®), is the first single-dose, broad consortia, microbiota-based live biotherapeutic approved by the US Food and Drug Administration to prevent recurrent Clostridioides difficile infection (rCDI) in adults following standard-of-care antimicrobials. Inflammatory bowel disease (IBD) is a common risk factor for rCDI, yet patients with IBD are often excluded from prospective trials. This subgroup analysis of PUNCH CD3-OLS (NCT03931941) evaluated the safety and efficacy of RBL in participants with rCDI and IBD.

Methods

Participants with IBD (ulcerative colitis [UC], Crohn’s disease [CD], or unspecified) who had rCDI were included. Treatment-emergent adverse event (TEAE) data were collected for up to 6 months following RBL administration. Efficacy outcomes included treatment success at 8 weeks and sustained clinical response at 6 months.

Results

Overall, 793 participants were enrolled, and 697 received RBL; 74 had IBD (UC: n = 45; CD: n = 25; unspecified IBD: n = 4). TEAEs within 8 weeks of administration were reported by 45.9% and 47.5% of participants with and without IBD, respectively; most were mild or moderate gastrointestinal symptoms. Serious TEAEs within 8 weeks of administration were reported by 1.4% and 4.2% of participants with and without IBD, respectively. The treatment success rate at 8 weeks was 78.9%, and the sustained clinical response rate at 6 months was 91.1% in participants with IBD, similar to rates in participants without IBD (73.2% and 91.0%, respectively).

Conclusions

The results of this subgroup analysis of PUNCH CD3-OLS suggest RBL is safe and efficacious in patients with IBD.
Enhancing Probiotic, Sensory, and Antioxidant Properties of Polygonatum sibiricum Red. and Crataegus pinnatifida Bunge through Lactic Acid Fermentation for Functional Food Development
Authors: Ma Yan-Li , Wang Yin-Zhuang , Feng Yuan , Duan Ding-ding , Yang Hai-yan , Wang Jun
Published: January 2025

This study explores the use of Polygonatum sibiricum Red. and Crataegus pinnatifida Bunge as edible-medicine homology ingredients through lactic acid fermentation to enhance probiotic content, sensory quality, and antioxidant properties. Using a mixed culture of Lactobacillus plantarum AS1.2437 and Lactobacillus casei CICC21019, the fermentation significantly increased lactic acid bacteria counts, improved taste, and boosted antioxidant activities, particularly in reducing Fe3+ and scavenging DPPH and ABTS free radicals (P < 0.05). During fermentation, changes in reducing sugars, total acids, superoxide dismutase (SOD) activity, and amino acid compositions were monitored. Results showed significant increases in total phenols, flavonoids, SOD activity, and polysaccharide content (P < 0.05). Essential amino acids increased by 4.86%, and therapeutic amino acids rose from 50.88% to 53.59%. The Boltzmann model effectively captured these changes, achieving a high coefficient of determination (R2 > 0.99), indicating strong predictive accuracy. Key organic acids like lactic, acetic, and tartaric acids contributed to enhanced antioxidant activity. This research provides a comprehensive understanding of the physicochemical, medicinal, and antioxidant properties of the fermented Polygonatum sibiricum Red. and C. pinnatifida Bunge (PsR.-CpB.) enzyme, establishing a theoretical foundation for developing functional foods aligned with the edible-medicine homology concept.
Quantitative Evaluation of Multiple Treatment Regimens for Treatment-Resistant Depression
Authors: Feng Yulin , Lv Yinghua , Yang Juan , Xu Ling , Chen Junchao , Huang Jihan , Ren Jiyuan , Zheng Qingshan , Li Lujin
Published: January 2025

Objective

This study aims to quantitatively evaluate the efficacy and safety of various treatment regimens for treatment-resistant depression (TRD) across oral, intravenous, and intranasal routes to inform clinical guidelines.

Methods

A systematic review identified randomized controlled trials on TRD, with efficacy measured by changes in the Montgomery-Åsberg Depression Rating Scale (MADRS). We developed pharmacodynamic and covariate models for different administration routes, using Monte Carlo simulations to estimate efficacy distribution. Dropout and adverse event-related dropout rates were analyzed via single-arm meta-analysis.

Results

Involving 22 studies with 56 treatment arms and 3,059 patients, our findings suggest combination therapies outperform monotherapy, achieving an additional 6.5% reduction in MADRS scores over 12 weeks. The most effective combinations were olanzapine with fluoxetine and quetiapine with SSRIs/SNRIs. Injectable treatments, particularly ayahuasca, produced rapid effects, with a 77% reduction in MADRS scores at 15 days. Intranasal treatments reached efficacy sooner than oral ones, with 28-day efficacy similar to the 12-week efficacy of the olanzapine-fluoxetine combination. Dropout rates due to adverse events were similar across methods (4.5%-5.2%), but total dropouts were highest for oral (17.9%) and lowest for intranasal routes (10.6%). Additionally, there was considerable variation in the incidence of headache, dizziness, and nausea across different administration routes.

Conclusion

The quantitative evaluation of 22 TRD treatments illuminates key pharmacodynamic parameters, bolstering the development of clinical guidelines and aiding the design of clinical trials and medical decision-making.
Uniqueness of Blowups for Forced Mean Curvature Flow
Authors: Hirsch Sven , Zhu Jonathan J
Published: January 2025

We prove uniqueness of tangent cones for forced mean curvature flow, at both closed self-shrinkers and round cylindrical self-shrinkers, in any codimension. The corresponding results for mean curvature flow in Euclidean space were proven by Schulze and Colding–Minicozzi, respectively. We adapt their methods to handle the presence of the forcing term, which vanishes in the blow-up limit but complicates the analysis along the rescaled flow. Our results naturally include the case of mean curvature flows in Riemannian manifolds.
Microplastics in rivers of Gujarat (India) until the Arabian Sea: assessment of the sources, distribution and associated environmental risk
Authors: Prasad Girija , Mohanty Smita , Chakraborty Paromita , Bharat Girija K
Published: January 2025

Microplastics (MPs) have become a notable concern and are released into the environment through the disposal or fragmentation of large plastics. Rivers have been the major pathways for MPs present in the oceans, which significantly affects the marine environment. In the current study, water samples were collected from the upper stream and downstream of Damanganga and Tapi rivers across different sites in the state of Gujarat, India for exploration of MPs contamination. Additionally, samples were also collected from Dumas Beach to detect the presence of MPs. MPs were extracted from the samples through sieving, density separation and wet peroxide oxidation (WPO) techniques which were subsequently analyzed using μ-FTIR, optical microscope, Pyrolysis GCMS (Py-GCMS) and SEM. The concentration of MPs was also quantified from each stretch of Damanganga, Tapi rivers as well as Dumas Beach. Findings revealed that Damanganga showed a higher concentration (3.53 particles/L) of MPs as compared to others. Further, optical microscope and μ-FTIR analysis confirm the presence of MPs like Polypropylene (PP), Polystyrene (PS), Polyethylene terephthalate (PET), Polyethylene (PE) and Polymethyl Methacrylate (PMMA). Pyrolysis products of PP, PS and Polyamide (PA) were detected from Py-GCMS studies. Additionally, SEM images revealed that MPs were subjected to weathering, oxidation and atmospheric deposition over the years. The study additionally confirmed the flux of MPs in both the rivers and beach due to anthropogenic and industrial effects. Risk assessment of MPs was performed using the Pollutant Loading Index (PLI), which indicated that the overall MPs pollution in the studied sites was marginal. Nevertheless, the PLI scores revealed that Damanganga was the most prone to MP pollution among the three study sites.
High-Sensitivity Cardiac Troponin Assays: From Implementation to Resource Utilization and Cost Effectiveness
Authors: Lee Hong-Kee , McCarthy Cian P , Jaffe Allan S , Body Richard , Alotaibi Ahmed , Sandoval Yader , Januzzi James L
Published: January 2025

Background

Cardiac troponin is the gold-standard biomarker for the evaluation of patients with suspected acute myocardial infarction (MI). Improvements in assay technology have led to high-sensitivity cardiac troponin assays that, when incorporated into accelerated diagnostic pathways, may rapidly diagnose or exclude acute MI more efficiently than conventional troponin assays.

Content

In this narrative review, we provide practical suggestions for implementing high-sensitivity cardiac troponin assays, review accelerated diagnostic pathways incorporating these assays, and review the impact of these assays on resource utilization and cost-effectiveness in relation to the evaluation of individuals with possible acute MI.

An increasing number of hospitals are transitioning to high-sensitivity cardiac troponin assays. This narrative review provides an overview of the potential benefits of this transition.
Retinoid-impregnated nanoparticles enable control of bone growth by site-specific modulation of endochondral ossification in mice
Authors: Matsuoka Masatake , Uchibe Kenta , Tang Ningfeng , Tian Hongying , Suzuki Akiko , Oichi Takeshi , Usami Yu , Alferiev Ivan , Otsuru Satoru , Abzug Joshua M , Herzenberg John E , Pacifici Maurizio , Enomoto-Iwamoto Motomi , Chorny Michael , Iwamoto Masahiro
Published: January 2025

Growth-plate (GP) injures in limbs and other sites can impair GP function and cause deceleration of bone growth, leading to progressive bone lengthening imbalance, deformities and/or physical discomfort, decreased motion and pain. At present, surgical interventions are the only means available to correct these conditions by suppressing the GP activity in the unaffected limb and/or other bones in the ipsilateral region. Here, we aimed to develop a pharmacologic treatment of GP growth imbalance that involves local application of nanoparticles-based controlled release of a selective retinoic acid nuclear receptor gamma (RARγ) agonist drug. When RARγ agonist-loaded nanoparticles were implanted near the medial and lateral sides of proximal tibial growth plate in juvenile C57BL/6j mice, the GP underwent involution and closure. Overall tibia length was shortened compared to the contralateral element implanted with drug-free control nanoparticles. Importantly, when the RARγ agonist nanoparticles were implanted on the lateral side only, the adjacent epiphysis tilted toward the lateral site, leading to apical angulation of the tibia. In contrast to the local selectivity of these responses, systemic administration of RARγ agonists led to GP closure at many sites, inhibiting skeletal growth over time. Agonists for RARα and RARβ elicited no obvious responses over parallel regimens. Our findings provide novel evidence that RARγ agonist-loaded nanoparticles can control activity, function and directionality of a targeted GP, offering a potential and clinically-relevant alternative or supplementation to surgical correction of limb length discrepancy and angular deformities.
A case of Li–Fraumeni syndrome caused by a 3.6 kb deletion in the TP53 gene suggested by additional data from the NCC Oncopanel
Authors: Souma Satoshi , Ogawa Maki , Ito Shin , Yamaguchi Kazunori , Fujimori Haruna , Asano Naoki , Ohnuki Koji , Takeuchi Mika , Otsuka Kazunori , Shirota Hidekazu , Yasuda Jun
Published: January 2025

A Japanese woman with Li–Fraumeni syndrome in her 40s underwent comprehensive genetic profiling accompanied by germline data using the Oncoguide NCC Oncopanel, but no germline pathogenic variants in the tumor suppressor gene TP53 were detected. However, careful examination of additional data in the report suggested the presence of a large TP53 deletion. Custom targeting next-generation sequencing and nanopore sequencing revealed a 3.6 kb deletion located between intron 1 and intron 6 of TP53. This finding indicates that the NCC Oncopanel is suggestive for detecting large germline deletions in tumor suppressor genes.
Significance of adding chemotherapy to radiotherapy in the treatment of T2N0 glottic cancer
Authors: Sano Daisuke , Oridate Nobuhiko
Published: January 2025

The prognosis for T2N0 glottic squamous cell carcinoma (SCC) is generally favorable, with a 5-year overall survival rate of 79%–96% achieved with radiotherapy (RT), the standard nonsurgical treatment for this condition. However, the local control rate for T2N0 glottic SCC treated with RT remains suboptimal, with a 5-year local control rate of only 65%–80%. Local residual disease or recurrence following RT for T2N0 glottic SCC often leads to difficulties in laryngeal preservation. When total laryngectomy is performed as a salvage surgery in such cases, patients lose their physiological ability to speak. Therefore, improving local control and laryngeal preservation rates through RT could substantially improve the quality of life of these patients. Attempts have been made to combine cytotoxic anticancer agents with RT to achieve better local control in patients with T2N0 glottic SCC. In Japan, several studies have evaluated the effects of combining S-1, an oral fluorinated pyrimidine, with RT in these patients. This review highlights the importance of adding chemotherapy to RT in the treatment of patients with T2N0 glottic SCC.
Myiasis by Cordylobia anthropophaga and C. rodhaini (Diptera: Calliphoridae) in Polish travelers to Africa with new molecular data
Authors: Biernat Beata , Gładysz Paweł , Kuna Anna , Sulima Małgorzata , Bykowska-Tumasz Martyna , Sontag Elżbieta
Published: January 2025

Myiasis is a parasitic infestation of soft vertebrate tissues by larval stages of Diptera. We briefly described the lesion-causing genus Cordylobia Grünberg (Diptera: Calliphoridae). Three Polish travelers to Uganda, Gambia, and Senegal returned with furuncular myiasis. To identify the third-instar larvae removed from their skin, we examined the morphological features of the 3 specimens and sequenced a 5’ barcoding fragment of the cytochrome c oxidase subunit I gene (COI-5P). One larva was identified as C. rodhaini Gedoelst, and 2 larvae were identified as C. anthropophaga (Blanchard). We were the first to submit the COI-5P of C. rodhaini to GenBank and the Barcode of Life Database. This is the first record of the importation of C. anthropophaga and the second record of the importation of C. rodhaini to Poland.
The contribution of cognitive disengagement syndrome symptoms to depressive symptoms among pediatric brain tumor survivors
Authors: Darow Eva L , Moscato Emily L , Riggs Amber T , Hanania Joan , Gerhardt Cynthia A , Salley Christina G , Vannatta Kathryn
Published: January 2025

Objective

Pediatric brain tumor survivors (PBTS) are at risk for neurocognitive late effects that can resemble symptoms of cognitive disengagement syndrome (CDS). In the current study, we compared the CDS symptoms of PBTS to those of healthy comparison classmates (CC) and examined whether CDS might explain group differences in depressive symptoms. We also explored whether CDS symptoms were associated with engagement-based coping strategies and stress responses, thereby testing one mechanism by which CDS could lead to affective difficulties.

Methods

Data were from a larger, multisite study examining the psychosocial impact of pediatric brain tumors on survivors (ages 8–15; 1- to 5-year post-treatment) and their families. PBTS (n = 68) and CC (n = 64) were matched on age and sex and reported depressive symptoms, coping strategies, and stress responses during a home-based assessment. Caregivers reported child CDS symptoms. Analyses used multiple regression with post hoc bootstrapping to test indirect effects.

Results

CDS symptoms were elevated in PBTS compared to CC (d = 0.49, p = .005), and elevated CDS symptoms partially explained higher depressive symptoms for PBTS. Exploratory serial mediation models suggested that coping strategies and stress responses did not account for the relationship between CDS and depressive symptoms. Alternative mechanisms to explain the association between CDS and depressive symptoms are discussed.

Conclusions

CDS may be a relevant framework to understand why some PBTS are at risk for depressive symptoms. Although additional research is needed, clinicians should consider screening for CDS symptoms to assess risk for depressive symptoms in survivorship.
Enumeration errors of census imputation
Authors: Chipperfield James , Zhang Li-Chun
Published: January 2025

Nonresponse to census enumeration is unavoidable despite the effort and resource committed. Imputation for the census nonrespondents so as to create a complete census database is common practice for preparing the numerous census outputs. Many countries have used administrative records for census imputation or are investigating such uses, in order to benefit from imputing genuine data of the census nonrespondents, which would not be possible when the imputed records are taken from the census respondents. But there is a gap in the literature regarding the assessment of the associated enumeration errors. In this paper, we develop methods for estimating the enumeration errors induced by census imputation and illustrate their uses in the context of Australian Census 2016.
Duplication of the common bile duct associated with dorsal pancreas agenesis: a diagnostic enigma and a major therapeutic turning point
Authors: Deflaoui Tarik , Derkaoui Anas , Soussan Haitam , Akil Yassir , Amara Rihab , Guellil Abdelali , Jabi Rachid , Bouziane Mohammed
Published: January 2025

We present a pioneering case of a duplication of the common bile duct associated with agenesis of the dorsal pancreas in a 66-year-old man. After an episode of cholestatic jaundice, radiological investigations revealed complex vascular and biliary anomalies, redefining the therapeutic strategy. Instead of risky surgery, endoscopic biliopancreatic drainage resolved the symptoms. This rare and complex case offers new perspectives for the management of such anomalies, underlining the importance of a personalized, multidisciplinary approach.
Potential roles of mitochondrial carrier proteins in plant responses to abiotic stress
Authors: de Cássia Monteiro-Batista Rita , Siqueira João Antonio , da Fonseca Pereira Paula , Barreto Pedro , Feitosa-Araujo Elias , Araújo Wagner L , Nunes-Nesi Adriano
Published: January 2025

The transport of metabolites across the inner mitochondrial membrane (IMM) is crucial for maintaining energy balance and efficient distribution of metabolic intermediates between cellular compartments. Under abiotic stress, mitochondrial function becomes particularly critical, activating complex signaling pathways essential for plant stress responses. These pathways modulate stress-responsive gene expression, influencing key physiological processes such as cell respiration and senescence, helping plants adapt to stress. Recent studies have emphasized the importance of finely tuned regulation of mitochondrial metabolite transport through the IMM, particularly under stress conditions, to optimize plant survival and resilience. This review summarizes the current knowledge on the possible roles of mitochondrial transport proteins and their contributions to plant adaptation under abiotic stress.
Dancing Molecules: Group A bZIPs and PEBPs at the Heart of Plant Development and Stress Responses
Authors: Martignago Damiano , da Silveira Falavigna Vítor , Coupland George , Conti Lucio
Published: January 2025

Group A basic leucine zipper (bZIP) transcription factors play critical roles in abscisic acid (ABA) signaling and plant development. In Arabidopsis thaliana, these factors are defined by a highly conserved core bZIP domain, and four conserved domains throughout their length: three at the N-terminus (C1 to C3) and a phosphorylatable C-terminal SAP motif located at the C4 domain. Initially, members such as ABI5 and ABFs were studied for their roles in ABA signaling during seed germination or stress responses. Later, a sub-clade of group A bZIPs, including FD, was found to play important roles in floral induction by interacting with the florigen FLOWERING LOCUS T (FT) at the shoot apical meristem. Recent research has expanded our understanding of these transcription factors by identifying intriguing parallels between those involved in ABA signaling and those promoting floral induction, and revealing dynamic interactions with FT and other phosphatidylethanolamine-binding proteins (PEBP) such as TERMINAL FLOWER 1. Studies in crop plants and non-model species demonstrate broader roles, functions, and molecular targets of group A bZIPs. This review highlights common features of group A bZIPs and their post-translational regulation in enabling the activation of gene regulatory networks with important functions in plant development and stress responses.
How complex are galaxies? A non-parametric estimation of the intrinsic dimensionality of wide-band photometric data
Authors: Cadiou Corentin , Laigle Clotilde , Agertz Oscar
Published: January 2025

Galaxies are complex objects, yet the number of independent parameters to describe them remains unknown. We present here a non-parametric method to estimate the intrinsic dimensionality of large data sets. We apply it to wide-band photometric data drawn from the COSMOS2020 catalogue and a comparable mock catalogue from the Horizon-AGN simulation. Our galaxy catalogues are limited in signal-to-noise ratio (SNR) in all optical and near-infrared bands. Our results reveal that most of the variance in the wide-band photometry of this galaxy sample can be described with at most 4.3 $\pm$ 0.5 independent parameters for star-forming galaxies and 2.9 $\pm$ 0.2 for passive ones, both in the observed and simulated catalogues. We identify one of these parameters to be noise-driven, and recover that stellar mass and redshift are two key independent parameters driving the magnitudes. Our findings support the idea that wide-band photometry does not provide more than one additional independent parameter for star-forming galaxies. Although our sample is not mass-limited and may miss some passive galaxies due to our cut in SNR, our work suggests that dimensionality reduction techniques may be effectively used to explore and analyse wide-band photometric data, provided the used latent space is at least four-dimensional.
Nebular emission from composite star-forming galaxies – I. A novel modelling approach
Authors: Morisset Christophe , Charlot Stéphane , Sánchez Sebastián F , Espinosa-Ponce Carlos , Barat Eric , Dautremer Thomas
Published: January 2025

We introduce a novel approach to modelling the nebular emission from star-forming galaxies by combining the contributions from many H ii regions incorporating loose trends in physical properties, random dust attenuation, a predefined Hα luminosity function and a diffuse ionized-gas component. Using a machine-learning-based regression artificial neural network trained on a grid of models generated by the photoionization code CLOUDY, we efficiently predict emission-line properties of individual H ii regions over a wide range of physical conditions. We generate 250,000 synthetic star-forming galaxies composed of up to 3000 H ii regions and explore how variations in parameters affect their integrated emission-line properties. Our results highlight systematic biases in oxygen-abundance estimates derived using traditional methods, emphasizing the importance of accounting for the composite nature of star-forming galaxies when interpreting integrated nebular emission. Future work will leverage this approach to explore in detail its impact on parameter estimates of star-forming galaxies.
Gravitational waves and galaxies cross-correlations: a forecast on GW biases for future detectors
Authors: Zazzera Stefano , Fonseca José , Baker Tessa , Clarkson Chris
Published: January 2025

Gravitational waves (GWs) have rapidly become important cosmological probes since their first detection in 2015. As the number of detected events continues to rise, upcoming instruments like Einstein Telescope (ET) and Cosmic Explorer (CE) will observe millions of compact binary mergers. These detections, coupled with galaxy surveys by instruments such as the Dark Spectroscopic Energy Instrument (DESI), Euclid, and the Vera Rubin Observatory, will provide unique information on the large-scale structure of the universe by cross-correlating GWs with the distribution of galaxies hosting them. In this paper, we focus on how cross-correlations constrain the clustering bias of GWs emitted by the coalescence of binary black holes (BBHs). This parameter links BBHs to the underlying dark matter distribution, hence informing us how they populate galaxies. Using a multitracer approach, we forecast the precision of these measurements under different survey combinations. Our results indicate that current GW detectors will have limited precision, with measurement errors as high as $\displaystyle \sim 50~{{\ \rm per\ cent}}$. However, third-generation detectors like ET, when cross-correlated with Legacy Survey of Space and Time (LSST) data, can improve clustering bias measurements to within 2.5  per cent. Furthermore, we demonstrate that these cross-correlations can enable a per cent-level measurement of the magnification lensing effect on GWs. Despite this, there is a degeneracy between magnification and evolution biases, which hinders the precision of both. This degeneracy is most effectively addressed by assuming knowledge of one bias or targeting an optimal redshift range of $\displaystyle 1 \lt z \lt 2.5$. Our analysis opens new avenues for studying the distribution of BBHs and testing the nature of gravity through large-scale structure.
The disrupting and growing open cluster spiral arm patterns of the Milky Way
Authors: Liu Xiaochen , He Zhihong , Luo Yangping , Wang Kun
Published: January 2025

Star clusters provide unique advantages for investigating Galactic spiral arms, particularly due to their precise ages, positions, and kinematic properties, which are further enhanced by ongoing updates from the astrometric data. In this study, we employ the latest extensive catalogue of open clusters from Gaia DR3 to examine the positional deviations of clusters belonging to different age groups. Additionally, we employ dynamical simulations to probe the evolutionary behaviour of spiral arm positions. Our analysis reveals an absence of a theoretical age pattern in the spiral arms traced by open clusters, and the pattern speeds of the spiral arms are consistent with the rotation curve. Both of these results do not align with the predictions of quasi-stationary density wave theory, suggesting a more dynamic or transient arm scenario for the Milky Way. From this perspective, combined with vertex deviation estimates, it appears that the Local arm is in a state of growth. In contrast, the Sagittarius-Carina arm and the Perseus arm exhibit opposing trends. Consequently, we speculate that the Galactic stellar disc does not exhibit a grand-design spiral pattern with a fixed pattern speed, but rather manifests as a multi-armed structure with arms that continuously emerge and dissipate.
The impact of CLEANing on strong gravitational lens modelling
Authors: Maresca Jacob , Dye Simon
Published: January 2025

We present a comparison of image and uv-plane galaxy–galaxy strong lensing modelling results for simulated Atacama Large Millimeter Array observations with different antenna configurations and on-source integration times. Image-plane modelling is carried out via use of the CLEAN algorithm, and we explore the effects of different visibility weighting schemes on the inferred lens model parameters. We find that direct modelling of the visibility data consistently outperforms image-plane modelling for both the naturally and Briggs-weighted images. We also find that the modelling of images created with Briggs weighting generally produces more accurate results than those obtained by modelling images constructed with natural weighting. We explain this by quantifying the suppression of information due to CLEANing on scales at which the modelling is sensitive, and how this differs between Briggs and natural weighting. At higher resolutions, the differences between the lens modelling techniques are much less pronounced and overall, modelling errors are significantly reduced. We also find that time-binning the visibilities by up to a factor of three makes no significant difference to the inferred lens parameters when directly modelling in the uv-plane. This work provides some guidance on navigating the many choices faced when modelling strong lens interferometric imaging data.
Successful switching treatment of mepolizumab for refractory eosinophilic granulomatosis with polyangiitis and multiple organ dysfunction under benralizumab treatment: A case report
Authors: Yukishima Toshitaka , Yonezawa Haruka , Aono Yuya , Yamaguchi Kazuyuki , Otsuki Yoshiro , Ohmura Shin-ichiro
Published: January 2025

Eosinophilic granulomatosis with polyangiitis (EGPA) is a rare necrotising vasculitis affecting small vessels accompanied by eosinophilic inflammation. Biological therapies, particularly anti-interleukin-5 (IL-5) monoclonal antibodies, have been shown to be effective in treating refractory EGPA. Mepolizumab, an anti-IL-5 monoclonal antibody, has been approved in Japan for the treatment of EGPA and has a significant glucocorticoid-sparing effect. Benralizumab, an anti-IL-5 receptor monoclonal antibody, has also been reported to reduce the glucocorticoid dose in patients with EGPA. However, several investigators have reported the development of EGPA during biologic treatment. Herein, we present a case of development of refractory EGPA under benralizumab treatment. Although the initial treatment with high-dose glucocorticoids and the administration of benralizumab were temporally effective, the patient’s condition did not improve, and the eosinophil count reelevated. After switching benralizumab to mepolizumab, the patient’s condition improved, and remission was achieved. Our report suggested that mepolizumab may be an effective treatment option for refractory EGPA after failure of benralizumab treatment.