bluuebunny/crossref_metadata_2025_split huggingface dataset:
α-Synuclein distribution in olfactory mucosa and skin nerves in Parkinson disease associated with an EIF4G1 gene mutation
Authors: Braccia Arianna , Elia Antonio Emanuele , Devigili Grazia , Lombardi Raffaella , Luppino Alessia , Mazzetti Samanta , Panteghini Celeste , Colangelo Isabel , Suerz Marta , Portaleone Sara Maria , Perilli Anna Maria , De Luca Chiara Maria Giulia , Ciullini Arianna , Dellarole Ilaria Linda , Telese Roberta , Garavaglia Barbara , Moda Fabio , Eleopra Roberto 
Published: January 2025

Abstract
The EIF4G1 gene has been considered an autosomal dominant cause of Parkinson disease (PD), even if its role is still debated. The objective of this study was to describe the phenotype and α-synuclein distribution in peripheral tissues in 2 related PD patients (mother and daughter), who are carriers of the same variant in exon 10 of EIF4G1 (c.1216G&gt;A, p.Gly406Arg). We used the Burghart Sniffin Sticks test for olfactory function. α-Synuclein distribution in the olfactory mucosa and skin samples was analyzed using RT-QuIC, double immunofluorescence, and immunohistochemical staining. Both patients presented with a mild motor syndrome associated with hyposmia as prominent traits; pathological α-synuclein deposits were found in the olfactory mucosa but not in the skin. The phenotype and the findings in peripheral tissues suggest that PARK18 could manifest as a “benign” form of PD associated with hyposmia, with a slow progression and sparse α-synuclein accumulation in the peripheral nervous system.
The interplay of Islamic principles of construction in English court: the case of NIOC v Crescent Petroleum
Authors: Dehdashti Ali 
Published: January 2025

Abstract
This article explores how principles of construction from a civil law-oriented Islamic jurisdiction can be interpreted in an English court, highlighting the extent of misconceptions that may arise in such contexts, using recent case law as an example. The different methods each legal system employs to determine the mutual intent of the parties can lead to misunderstandings between jurisdictions. Unlike the common law’s objective and more literal approach, civil law systems often exhibit more subjectivity. Islamic legal systems, however, are even more rigorous in uncovering the parties' mutual intentions. This case demonstrates that foreign law experts may blur the distinctions between the true nature of the applicable law and the court’s approach to construction. Conversely, the court may perceive the foreign law as similar to English law, even though the applicable law significantly differs from English law.
Family functioning in adolescents and young adults with differences of sex development
Authors: Papadakis Jaclyn L , Buchanan Cindy L , Chan Yee-Ming , Crerand Canice E , Hansen-Moore Jennifer , Nahata Leena , Rausch Joseph R , Tishelman Amy C , Chen Diane 
Published: January 2025

Abstract

Objective
Family functioning influences various psychosocial outcomes for individuals with pediatric chronic health conditions (e.g., Leeman, J., Crandell, J. L., Lee, A., Bai, J., Sandelowski, M., & Knafl, K. (2016). Family Functioning and the Well-Being of Children With Chronic Conditions: a Meta-Analysis. Research in Nursing & Health, 39, 229–243), but this has not been examined among families of youth with differences of sex development (DSD). The objective of this study was to examine (a) differences in family functioning based on DSD-related and demographic characteristics, (b) the associations between family functioning and psychosocial outcomes, and (c) the moderating effects of current age.

Methods
Participants were 57 adolescents and 40 young adults (AYA) ages 12–25 years (M  = 16.97) with DSD resulting in atypical genital appearance and/or discordance between phenotypic and chromosomal sex who participated in a cross-sectional study examining psychosocial outcomes. Participants completed the Family Environment Scale, the McMaster Family Assessment Device, the Perceived Acceptance Scale, and outcome measures including the Youth Self-Report/Adult Self-Report and the Connor-Davidson Resilience Scale. Analyses included t-tests and linear regressions with moderation effects.

Results
AYA reported better family functioning if they were diagnosed at a younger age, learned about their diagnosis at a younger age, had 46, XY karyotype, and identified as male. General family functioning, family conflict, and family acceptance had the strongest associations with psychosocial outcomes. Greater family acceptance was associated with fewer total problems, and this association was stronger for adolescents (ps &lt; .05).

Conclusions
AYA with certain DSD-related characteristics may demonstrate more adaptive family functioning. Family functioning is strongly associated with psychosocial outcomes for AYA with DSD. Results highlight the importance of developing family-focused interventions to promote psychosocial functioning in AYA with DSD.
A union of two rare pathologies: small bowel diverticula perforation secondary to impacted gallstone ileus
Authors: Choi Joseph Do Woong , de Silva Pranesh , Lynch Craig , Pillinger Stephen , Ravindran Praveen 
Published: January 2025

Abstract
An 84-year-old lady presented with 1 day history of sudden onset generalized abdominal pain, fevers, and peritonism. Computed tomography was suggestive of a mid-small bowel perforation associated with a distal ovoid soft tissue density structure without pneumobilia. An urgent laparotomy demonstrated two areas of jejunal diverticula necrosis and perforation associated with a 3 cm luminal mass in the proximal ileum, and proximal small bowel dilatation. A 100 cm small bowel resection incorporating the mass and perforated jejunal diverticula and primary stapled anastomosis were performed. Histopathology surprisingly demonstrated cholelithiasis consistent with a gallstone ileus and necrotic, perforated jejunal diverticulitis. The patient had no recurrent symptoms at 6 weeks follow-up. The authors report an uncommon and unexpected occurrence of small bowel diverticulitis perforation as a rare complication of gallstone ileus.
Third case of gallbladder hemangioma associated with gallstones: a comprehensive literature review
Authors: Boujguenna Imane , Moujane Soumia , Boukis Fatima , Abdouh Soufiane , Elguazzar Ahmed 
Published: January 2025

Abstract
Gallbladder hemangiomas are extremely rare benign tumors. Eighteen cases have been reported in the literature, with only two associated with gallstones. We report the third case of a gallbladder hemangioma associated with gallstones in a 54-year-old Moroccan woman, along with a comprehensive review of the literature. Gallbladder hemangiomas are likely underdiagnosed, underscoring the need for careful examination of cholecystectomy specimens.
Restorative option for hemisected root canal treated mandibular molar: two case reports
Authors: Lin Tian Shih , Allosias Jacqueline Ann , Halim Mohamad Syahrizal , Ahmed Naseer , Heboyan Artak 
Published: January 2025

Abstract
The success of hemisection is based on meticulous case selection, considering the quality and quantity of bone surrounding the remaining roots. Additionally, a well-devised prosthetic plan is crucial to direct forces along the preserved roots, and ongoing maintenance is imperative for long-term success. This case report aims to present two different restorative designs for the pontic on the edentulous space after the hemisection of a molar tooth. The treatment approach included initial root canal treatment, followed by periodontal intervention involving hemisection. The hemisected tooth was restored through a fixed partial denture, utilizing premolar, or molar as abutments. Hemisection is an excellent option for retaining the molar tooth in the mouth. The restorative option might be chosen between original molar anatomy or transformation into premolars. This must be in accordance with the patient’s wishes as well.
Constructed wetland–microbial fuel cell (CW-MFC) mediated bio-electrodegradation of azo dyes from textile wastewater
Authors: Kundu Nikita , Yadav Smriti , Bhattacharya Ananya , Aseri G K , Jain Neelam 
Published: January 2025

Abstract
Azo dyes constitute 60%–70% of commercially used dyes and are complex, carcinogenic, and mutagenic pollutants that negatively impact soil composition, water bodies, flora, and fauna. Conventional azo dye degradation techniques have drawbacks such as high production and maintenance costs, use of hazardous chemicals, membrane clogging, and sludge generation. Constructed wetland–microbial fuel cells (CW–MFCs) offer a promising sustainable approach for the bio-electrodegradation of azo dyes from textile wastewater. CW–MFCs harness the phytodegradation capabilities of wetland plants like Azolla, water hyacinth, and Ipomoea, along with microalgae such as Nostoc, Oscillatoria, Chlorella, and Anabaena, to break down azo dyes into aromatic amines. These intermediates are then reduced to CO2 and H2O by microalgae in the fuel cells while simultaneously generating electricity. CW–MFCs offer advantages including low cost, sustainability, and use of renewable energy. The valorization of the resulting algal and plant biomass further enhances the sustainability of this approach, as it can be used for biofuel production, nutraceuticals, pharmaceuticals, and bio-composting. Implementing CW–MFCs as a tertiary treatment step in textile industries aligns with the circular economy concept and contributes to achieving several sustainable development goals.
Genito-Urinary Trauma in the War Context: A Review of Two Decades of Experience From the French Armed Forces
Authors: Vincent Yohann , Chiron Paul , Agüero Christopher , Savoie Pierre-Henrie , Peyrottes Arthur , Depaquit Thibaut Long 
Published: January 2025

ABSTRACT

Background
In recent conflicts, injuries to urogenital organs ranged from 5 to 7.2% of all combat-related injuries. Open surgery remains the main approach in combat settings, and in the French military, urgent surgical procedures are mostly performed by general surgeons with no specialization in urological care. To explore the specific needs in advanced surgery courses, we aimed to describe the epidemiology and management of genito-urinary traumas in recent conflicts in French Medical Treatment Facilities (MTFs).

Methods
Data were extracted from the OPEX® registry, which prospectively recorded surgical activity from 2001 to 2021. All patients treated in French Role 2 Enhanced or 3 MTFs requiring emergency surgery for urogenital injury were included. The mechanism of trauma, type of genito-urinary injury (GUI), and surgical management were reported.

Results
After screening, a total of 4,603 patients were admitted for emergency or delayed emergency surgery. Among them, 31 (0.67%) patients had urogenital injuries requiring immediate management. Most injuries were combat-related (77.4%), caused by gunshots (45%) and explosions (29%). Ten patients (32%) were hemodynamically unstable at initial management. Bladder and testicular injuries were the most common (12 [39%] and 8 [25.8%], respectively). Kidney injuries were rare but led to organ extirpation in 60% of the cases. Associated digestive injuries occurred in 45.2% of the cases. All procedures used the open approach.

Conclusion
This study is the first to examine genito-urinary traumas in overseas operations during French army deployments. The results highlight the relatively low incidence of urological trauma, with most injuries involving the bladder and testis. Our findings highlight the importance of equipping military surgeons with the skills necessary to manage complex cases.
The profound effect of diabetes mellitus control on outcomes of coccidioidomycosis
Authors: El Kurdi Rawan , McGary Alyssa , Buras Matthew R , Verona Patricia M , Cook Curtiss B , Blair Janis E 
Published: January 2025

Abstract
Coccidioidomycosis is an endemic fungal infection caused by the soil-dwelling Coccidioides. One prior study showed that persons with diabetes mellitus (DM) with elevated glucose at the time of coccidioidomycosis had poorer coccidioidal outcomes compared to persons without DM. We aimed to assess the association between hemoglobin A1C (A1C) and outcomes among persons with coccidioidomycosis and coexisting DM. We conducted a retrospective case-control study of patients with DM (cases) and without DM (controls) with coccidioidomycosis to assess the effect of glycemic control on outcomes in patients with DM. From January 1, 2017, to October 13, 2022, we identified 138 DM patients with coccidioidomycosis and compared them with 283 non-DM control patients with coccidioidomycosis. Compared with controls, cases were more likely to require hospitalization (OR 1.20, P &lt; .001), have a lung cavity (OR 1.36, P &lt; .001) and cavitary complications (OR 1.09, P = .001), require surgical management (OR 1.07, P = .016), and experience relapsed infection (OR 1.09, P = .041). Among the cases, when baseline A1C was assessed as a continuous variable, each 1-unit increase of A1C had a significant effect on coccidioidomycosis-related hospitalizations (A1C OR 1.59, P = .005) and the presence of cavities (OR 1.42, P = .01). Controlling for Charlson Comorbidity Index did not change the significance of A1C influence on outcomes of hospitalization and lung cavities. DM patients with A1C levels ≤8.0 at presentation did not have increased adverse coccidioidomycosis outcomes. In summary, glycemic control profoundly impacts the outcomes of diabetic patients with coccidioidomycosis.
The effects of super-Eddington accretion and feedback on the growth of early supermassive black holes and galaxies
Authors: Huško Filip , Lacey Cedric G , Roper William J , Schaye Joop , Briggs Jemima Mae , Schaller Matthieu 
Published: January 2025

ABSTRACT
We present results of cosmological zoom-in simulations of a massive protocluster down to redshift $z\approx 4$ (when the halo mass is $\approx 10^{13}$ M$_\odot$) using the swift code and the eagle galaxy formation model, focusing on supermassive black hole (BH) physics. The BH was seeded with a mass of $10^4$ M$_\odot$ at redshift $z\approx 17$. We compare the base model that uses an Eddington limit on the BH accretion rate and thermal isotropic feedback by the active galactic nuclei, with one where super-Eddington accretion is allowed, as well as two other models with BH spin and jets. In the base model, the BH grows at the Eddington limit from $z=9$ to $z=5.5$, when it becomes massive enough to halt its own and its host galaxy’s growth through feedback. We find that allowing super-Eddington accretion leads to drastic differences, with the BH going through an intense but short super-Eddington growth burst around $z\approx 7.5$, during which it increases its mass by orders of magnitude, before feedback stops further growth (of both the BH and the galaxy). By $z\approx 4$ the galaxy is only half as massive in the super-Eddington cases, and an order of magnitude more extended, with the half-mass radius reaching values of a few physical kpc instead of a few hundred pc. The BH masses in our simulations are consistent with the intrinsic BH mass–stellar mass relation inferred from high-redshift observations by JWST. This shows that galaxy formation models using the $\Lambda$cold dark matter cosmology are capable of reproducing the observed massive BHs at high redshift. Allowing jets, either at super- or sub-Eddington rates, has little impact on the host galaxy properties, but leads to lower BH masses as a consequence of higher feedback efficiencies.
The vertical shear instability in protoplanetary discs as an outwardly travelling wave − I. Linear theory
Authors: Ogilvie Gordon I , Latter Henrik N , Lesur Geoffroy 
Published: January 2025

ABSTRACT
We revisit the global linear theory of the vertical shear instability (VSI) in protoplanetary discs with an imposed radial temperature gradient. We focus on the regime in which the VSI has the form of a travelling inertial wave that grows in amplitude as it propagates outwards. Building on previous work describing travelling waves in thin astrophysical discs, we develop a quantitative theory of the wave motion, its spatial structure, and the physical mechanism by which the wave is amplified. We find that this viewpoint provides a useful description of the large-scale development of the VSI in global numerical simulations, which involves corrugation and breathing motions of the disc. We contrast this behaviour with that of perturbations of smaller scale, in which the VSI grows into a non-linear regime in place without significant radial propagation.
Joint modelling of astrophysical systematics for cosmology with LSST cosmic shear
Authors: Šarčević Nikolina , Leonard C Danielle , Rau Markus M ,   the LSST Dark Energy Science Collaboration
Published: January 2025

ABSTRACT
We present a novel framework for jointly modelling the weak lensing source galaxy redshift distribution and the intrinsic alignment (IA) of galaxies through a shared luminosity function (LF). In the context of a Rubin Observatory’s Legacy Survey of Space and Time (LSST) Year 1 and Year 10 cosmic shear analysis, we show that our novel approach produces cosmological parameter constraints which are comparable to standard methods, while offering more physical insight into IA and selection effects. We clarify the relationship between individual parameters of a Schechter LF and the redshift distribution of a magnitude-limited sample, showing the consequences of marginalizing over these parameters when modelling IAs in standard cosmic shear analyses. We explore the impact of the shape of the LF on the cosmic shear data vector, and we outline the potential of this method to naturally model selection functions in redshift distribution estimation. Although this work focuses on LSST cosmic shear, the proposed joint modelling framework is broadly applicable to weak lensing surveys.
Extreme metallicity dwarf galaxies in IllustrisTNG
Authors: Carleton Timothy , Monkiewicz Jacqueline 
Published: January 2025

ABSTRACT
The use of extremely metal-deficient dwarf galaxies (XMDs) as nearby analogues for high-redshift protogalaxies is generating renewed interest due to recent JWST observations studying these protogalaxies. However, the existence of a population of unenriched galaxies at $z\sim 0$ raises fundamental questions about how galaxies with such pristine gas reservoirs could be formed. To address these questions, we study XMDs in the IllustrisTNG simulation. We find that XMDs at $z=0$ are not relics of the first galaxies, but dwarf galaxies that experience a dramatic $\sim 0.3$ dex drop in their gas-phase metallicity in the past few Gyr. We investigate possible causes of this drop in metallicity including high gas fractions, outflow efficiency or inflow/outflow rates, unique environments, pristine inflow metallicity, and inflow–SFR interactions. Of these, we find that inflow–outflow interactions, parametrized by the cumulative regional SFR experienced by inflows, has the strongest correlation with dwarf galaxy metallicity and XMD formation. In other words, inefficient gas enrichment during the short time between its accretion from the CGM and the initiation of star formation is the most important cause of XMD formation in the simulation. We identify differences in star formation history between XMDs and non-XMDs (with XMDs having significantly decreased star formation rates on $1\!-\!5$ Gyr time-scales) and differences in galaxy size (with XMDs having a more extended young stellar population) as the primary observable differences between the two populations. These results highlight the importance of inflow enrichment efficiency as a possible driver of dwarf galaxy metallicities.
Directional miscentring dependence in weak lensing mass bias
Authors: Sommer Martin W , Schrabback Tim , Grandis Sebastian 
Published: January 2025

ABSTRACT
Galaxy cluster masses estimated from parametric modelling of weak lensing shear observations are known to be biased by inaccuracies in observationally determined centres. It has recently been shown that such systematic effects can be non-isotropic when centres are derived from X-ray or Compton-Y (Sunyaev–Zeldovich effect) observations, which is often the case in practice. This fact challenges current methods of accurately correcting for weak lensing mass biases using simulations paired with isotropic empirical miscentring distributions, in particular as the effect on determined masses is currently a dominant source of systematic uncertainty. We use hydrodynamical cosmological simulations taken from the Magneticum Pathfinder simulations to show that the non-isotropic component of the mass bias can be reduced to within one per cent of the mass when considering the centre of mass, rather than the bottom of the gravitational potential, as the reference centre of a galaxy cluster.
A long-term decline in downward surface solar radiation
Authors: Song Fengfei , Mao Yudi , Liu Shichu , Wu Lixin , Dong Lu , Su Hui , Wang Yawen , Chtirkova Boriana , Wu Peili , Wild Martin 
Published: January 2025

ABSTRACT
Downward surface solar radiation (DSSR) is critical for the Earth system. It is well-known that DSSR over land has fluctuated on decadal timescales in the past. By utilizing a combination of station observations and the latest CMIP6 simulations, here we show that DSSR had a global consistent decline during 1959–2014, with comparable contributions from greenhouse gases (GHGs) and anthropogenic aerosols. The role of GHGs is even more important in the satellite period. The contribution from GHGs comes through rising temperature, which reduces the DSSR by increasing water vapor but is partly offset by reduced cloud. Future changes of DSSR are heavily dependent on climate change scenarios, which can be predicted well by global mean surface temperature (GMST) and aerosol concentrations. The sharp aerosol reduction and weak temperature rise in the SSP245/SSP126 scenarios will limit or stop the long-term decline of DSSR thus leading to a brighter future.
Foundation models in bioinformatics
Authors: Guo Fei , Guan Renchu , Li Yaohang , Liu Qi , Wang Xiaowo , Yang Can , Wang Jianxin 
Published: January 2025

Abstract
With the adoption of Foundation Models (FMs), Artificial Intelligence (AI) has become increasingly significant in bioinformatics and has successfully addressed many historical challenges, such as pre-training frameworks, model evaluation, and interpretability. FMs demonstrate notable proficiency in managing large-scale, unlabeled datasets, because experimental procedures are costly and labor-intensive. In various downstream tasks, FMs have consistently achieved noteworthy results, demonstrating high levels of accuracy in representing biological entities. A new era in computational biology has been ushered in by the application of FMs, focusing on both general and specific biological issues. In this review, we introduce recent advancements in bioinformatics FMs that employed in a variety of downstream tasks, including genomics, transcriptomics, proteomics, drug discovery, and single cell analysis. Our aim is to assist scientists in selecting appropriate FMs in bioinformatics, according to four model types: language FMs, vision FMs, graph FMs, and multimodal FMs. In addition to understanding molecular landscapes, AI technology can establish the theoretical and practical foundation for continued innovation in molecular biology.