bluuebunny/crossref_metadata_2025_split huggingface dataset:
Imaginative elaboration in agenesis of the corpus callosum: topic modeling and perplexity
Authors: Brown Warren S. , Hoard Matthew , Birath Brandon , Graves Mark , Nolty Anne , Paul Lynn K. 
Published: May 2024

AbstractObjective:Previous studies have found deficits in imaginative elaboration and social inference to be associated with agenesis of the corpus callosum (ACC; Renteria-Vasquez et al., 2022; Turk et al., 2009). In the current study, Thematic Apperception Test (TAT) responses from a neurotypical control group and a group of individuals with ACC were used to further study the capacity for imaginative elaboration and story coherence.Method:Topic modeling was employed utilizing Latent Diritchlet Allocation to characterize the narrative responses to the pictures used in the TAT. A measure of the difference between models (perplexity) was used to compare the topics of the responses of individual participants to the common core model derived from the responses of the control group. Story coherence was tested using sentence-to-sentence Latent Semantic Analysis.Results:Group differences in perplexity were statistically significant overall, and for each card individually (p < .001). There were no differences between the groups in story coherence.Conclusions:TAT narratives from persons with ACC were normally coherent, but more conventional (i.e., more similar to the core text) compared to those of neurotypical controls. Individuals with ACC can make conventional social inferences about socially ambiguous stimuli, but are restricted in their imaginative elaborations, resulting in less topical variability (lower perplexity values) compared to neurotypical controls.
The impact of water quality on children's education: evidence from 39 districts in the Ganges Basin of India
Authors: Islam Md Ohiul , Ghorai Moumita 
Published: May 2024

AbstractWe investigate the effect of water quality on the educational outcomes of children aged 8–11 in 39 districts in five states in the Ganges Basin of India. Using data from the Centre for Pollution Control Board of India and the Indian Human Development Survey (IHDS) 2011–12, we study the effect of water quality in the Ganges Basin on the performance in three test scores. Our evidence suggests that faecal coliform levels in water sources above safety thresholds negatively affect reading and writing test scores. The effects of Nitrate-N and Nitrite-N in the water appear to be weaker compared to those of faecal coliform. The results establish that water pollution caused by excessive presence of faecal coliform is an important environmental factor in determining educational outcomes of children. High levels of faecal coliform in the water could be lowering cognitive abilities of the pollution-affected children through the channel of waterborne diseases.
Healthcare chaplains’ perspectives on working with culturally diverse patients and families
Authors: Bang So Hyeon , Noh Hyunjin , Handzo George , Galchutt Paul , Kwak Jung 
Published: May 2024

AbstractObjectivesConsidering the ethnic, racial, and cultural diversity in the U.S., we aim to explore the experiences of healthcare chaplains as they provide culturally sensitive care to diverse patients and their families.MethodsThis is a qualitative study. Individual interviews were conducted with 14 healthcare chaplains recruited from 3 U.S. chaplaincy organizations.ResultsThematic analysis with constant comparison yielded 6 themes in the chaplains’ experiences: (1) the diverse roles of chaplains; (2) their high levels of comfort in working with diverse populations, attributed to cultural sensitivity and humility training; (3) cues for trust-building; (4) common topics of diversity, equity, and inclusion discussed; (5) gaps in chaplaincy training; and (6) the importance of collaboration and negotiation with healthcare professionals to accommodate cultural needs.Significance of resultsThis research highlights the valuable role of chaplains in providing culturally sensitive care and suggests areas for improving chaplaincy training and education to better serve diverse patient populations.
Weak sovereignty and interstate war
Authors: Wolford Scott , Rider Toby J. 
Published: May 2024

AbstractInternational agreements save the costs of war, but complying with their terms can be costly. We analyse a model of interstate crisis bargaining in which one state may be unwilling or unable to make a costly investment that guarantees its subjects’ compliance. In equilibrium, peace is assured when the domestic government is militarily strong enough to demand terms that its subjects tolerate. When the domestic government is militarily weaker, peace requires that the foreign state compensate it for either the costs of enforcement or its subjects’ violations, and these prospective costs of peace may also lead the foreign state to solve the enforcement problem with war because peace is relatively costly. We also show that war due to enforcement problems is more common in militarily weak states and that equilibria at which the foreign state subsidizes enforcement are more common when the costs of violation fall disproportionately on the domestic state. The American invasion of Mexico in 1916 and the Red Army's peaceful withdrawal from East Germany in 1989 demonstrate the model's usefulness.
Mediterranean diet as a strategy for preserving kidney function in patients with coronary heart disease with type 2 diabetes and obesity: a secondary analysis of CORDIOPREV randomized controlled trial
Authors: Podadera-Herreros Alicia , Arenas-de Larriva Antonio P. , Gutierrez-Mariscal Francisco M. , Alcala-Diaz Juan F. , Ojeda-Rodriguez Ana , Rodriguez-Cantalejo Fernando , Cardelo Magdalena P. , Rodriguez-Cano Diego , Torres-Peña Jose D. , Luque Raul M. , Ordovas Jose M. , Perez-Martinez Pablo , Delgado-Lista Javier , Lopez-Miranda Jose , Yubero-Serrano Elena M. 
Published: May 2024

Abstract
Background
Type 2 diabetes mellitus (T2DM) is recognized an independent risk factor for chronic kidney disease (CKD). The precise contribution and differential response to treatment strategies to reduce kidney dysfunction, depending on whether obesity is present alongside T2DM or not, remain to be fully clarified. Our objective was to improve our understanding of how obesity contributes to kidney function in patients with T2DM and coronary heart disease (CHD), who are highly predisposed to CKD, to assign the most effective dietary approach to preserve kidney function.

Methods
1002 patients with CHD and estimated glomerular filtration rate (eGFR)≥30 ml/min/1.73m2, were randomized to consume a Mediterranean diet (35% fat, 22% MUFA, < 50% carbohydrates) or a low-fat diet (28% fat, 12% MUFA, > 55% carbohydrates). Patients were classified into four groups according to the presence of T2DM and/or obesity at baseline: Non-Obesity/Non-T2DM, Obesity/Non-T2DM, Non-Obesity/T2DM and Obesity/T2DM. We evaluated kidney function using serum creatinine-based estimated glomerular filtration rate (eGFR) and urinary albumin-to-creatinine ratio (uACR) before and after 5-years of dietary intervention.

Results
Patients with Obesity/T2DM had the lowest baseline eGFR and the highest baseline uACR compared to non-diabetics (p < 0.05). After dietary intervention, the Mediterranean diet induced a lower eGFR decline in patients with Obesity/T2DM, compared to a low-fat diet but not in the other groups (p = 0.014). The Mediterranean diet, but not the low-fat diet, also reduced uACR only in patients with Obesity/T2DM (p = 0.024).

Conclusions
Obesity provided an additive effect to T2DM resulting in a more pronounced decline in kidney function compared to T2DM alone when compared to non-diabetics. In patients with concomitant presence of T2DM and obesity, with more metabolic complications, consumption of a Mediterranean diet seemed more beneficial than a low-fat diet in terms of preserving kidney function. These findings provide valuable insights for tailoring personalized lifestyle modifications in secondary prevention of cardiovascular disease.

Trial registration
URL, http://www.cordioprev.es/index.php/en. Clinicaltrials.gov number, NCT00924937
Time to diagnosis and determinants of diagnostic delays of people living with a rare disease: results of a Rare Barometer retrospective patient survey
Authors: Faye Fatoumata , Crocione Claudia , Anido de Peña Roberta , Bellagambi Simona , Escati Peñaloza Luciana , Hunter Amy , Jensen Lene , Oosterwijk Cor , Schoeters Eva , de Vicente Daniel , Faivre Laurence , Wilbur Michael , Le Cam Yann , Dubief Jessie 
Published: May 2024

AbstractTimely diagnosis is one of the most serious challenges faced by people living with a rare disease (PLWRD), and this study estimates that in Europe, the average total diagnosis time (TDT) is close to 5 years. We investigated the duration of the TDT for PLWRD in Europe, the difficulties associated with their diagnosis odyssey and the main determinants of diagnosis delays for all rare diseases (RD). We conducted a survey of PLWRD and their families using Rare Barometer, the survey initiative of EURORDIS-Rare Diseases Europe. In geographical Europe, we surveyed 6507 people living with 1675 RD in 41 countries. We then performed a descriptive analysis and ordinal logistic regressions to identify the main determinants of diagnosis delays. Average TDT is 4.7 years. 56% of respondents were diagnosed more than 6 months after a first medical contact. The main determinants of diagnosis delays are symptom onset before 30 years of age, especially during childhood (OR = 3.11; 95% CI: 2.4–4.0) and adolescence (OR = 4.79; 95% CI: 3.7–6.2), being a woman (OR = 1.22; 95% CI:1.1–1.4), living in Northern Europe (OR = 2.15; 95% CI:1.8–2.6) or Western Europe (OR = 1.96; 95% CI:1.6–2.3), the number of healthcare professionals consulted (OR = 5.15; 95% CI:4.1–6.4), misdiagnosis (OR = 2.48; 95% CI:2.1–2.9), referral to a centre of expertise (OR = 1.17; 95% CI:1.0–1.3), unmet needs for psychological support (OR = 1.34; 95% CI:1.2–1.5) and financial support (OR = 1.16; 95% CI:1.0–1.3), having a genetic disease (OR = 1.33; 95% CI:1.1–1.5) and a family history of an RD (OR = 1.36; 95% CI:1.1–1.6). These determinants can inform policies and actions to improve access to diagnosis for all PLWRD.
Retinoic acid related orphan receptor α is a genetic modifier that rescues retinal degeneration in a mouse model of Stargardt disease and Dry AMD
Authors: Akula M. , McNamee S. M. , Love Z. , Nasraty N. , Chan N. P. M. , Whalen M. , Avola M. O. , Olivares A. M. , Leehy B. D. , Jelcick A. S. , Singh P. , Upadhyay A. K. , Chen D. F. , Haider N. B. 
Published: May 2024

AbstractDegeneration of the macula is associated with several overlapping diseases including age-related macular degeneration (AMD) and Stargardt Disease (STGD). Mutations in ATP Binding Cassette Subfamily A Member 4 (ABCA4) are associated with late-onset dry AMD and early-onset STGD. Additionally, both forms of macular degeneration exhibit deposition of subretinal material and photoreceptor degeneration. Retinoic acid related orphan receptor α (RORA) regulates the AMD inflammation pathway that includes ABCA4, CD59, C3 and C5. In this translational study, we examined the efficacy of RORA at attenuating retinal degeneration and improving the inflammatory response in Abca4 knockout (Abca4−/−) mice. AAV5-hRORA-treated mice showed reduced deposits, restored CD59 expression and attenuated amyloid precursor protein (APP) expression compared with untreated eyes. This molecular rescue correlated with statistically significant improvement in photoreceptor function. This is the first study evaluating the impact of RORA modifier gene therapy on rescuing retinal degeneration. Our studies demonstrate efficacy of RORA in improving STGD and dry AMD-like disease.
Characteristic craniofacial defects associated with a novel USP9X truncation mutation
Authors: Nagata Namiki , Kurosaka Hiroshi , Higashi Kotaro , Yamaguchi Masaya , Yamamoto Sayuri , Inubushi Toshihiro , Nagata Miho , Ishihara Yasuki , Yonei Ayumi , Miyashita Yohei , Asano Yoshihiro , Sakai Norio , Sakata Yasushi , Kawabata Shigetada , Yamashiro Takashi 
Published: May 2024

Abstract
Germline loss-of-function mutations in USP9X have been reported to cause a wide spectrum of congenital anomalies. Here, we report a Japanese girl with a novel heterozygous nonsense mutation in USP9X who exhibited intellectual disability with characteristic craniofacial abnormalities, including hypotelorism, brachycephaly, hypodontia, micrognathia, severe dental crowding, and an isolated submucous cleft palate. Our findings provide further evidence that disruptions in USP9X contribute to a broad range of congenital craniofacial abnormalities.
Deterministic positioning and alignment of a single-molecule exciton in plasmonic nanodimer for strong coupling
Authors: Liu Renming , Geng Ming , Ai Jindong , Fan Xinyi , Liu Zhixiang , Lu Yu-Wei , Kuang Yanmin , Liu Jing-Feng , Guo Lijun , Wu Lin 
Published: May 2024

AbstractExperimental realization of strong coupling between a single exciton and plasmons remains challenging as it requires deterministic positioning of the single exciton and alignment of its dipole moment with the plasmonic fields. This study aims to combine the host–guest chemistry approach with the cucurbit[7]uril-mediated active self-assembly to precisely integrate a single methylene blue molecule in an Au nanodimer at the deterministic position (gap center of the nanodimer) with the maximum electric field (EFmax) and perfectly align its transition dipole moment with the EFmax, yielding a large spectral Rabi splitting of 116 meV for a single-molecule exciton—matching the analytical model and numerical simulations. Statistical analysis of vibrational spectroscopy and dark-field scattering spectra confirm the realization of the single exciton strong coupling at room temperature. Our work may suggest an approach for achieving the strong coupling between a deterministic single exciton and plasmons, contributing to the development of room-temperature single-qubit quantum devices.
Dynamic microfluidic single-cell screening identifies pheno-tuning compounds to potentiate tuberculosis therapy
Authors: Mistretta Maxime , Cimino Mena , Campagne Pascal , Volant Stevenn , Kornobis Etienne , Hebert Olivier , Rochais Christophe , Dallemagne Patrick , Lecoutey Cédric , Tisnerat Camille , Lepailleur Alban , Ayotte Yann , LaPlante Steven R. , Gangneux Nicolas , Záhorszká Monika , Korduláková Jana , Vichier-Guerre Sophie , Bonhomme Frédéric , Pokorny Laura , Albert Marvin , Tinevez Jean-Yves , Manina Giulia 
Published: May 2024

AbstractDrug-recalcitrant infections are a leading global-health concern. Bacterial cells benefit from phenotypic variation, which can suggest effective antimicrobial strategies. However, probing phenotypic variation entails spatiotemporal analysis of individual cells that is technically challenging, and hard to integrate into drug discovery. In this work, we develop a multi-condition microfluidic platform suitable for imaging two-dimensional growth of bacterial cells during transitions between separate environmental conditions. With this platform, we implement a dynamic single-cell screening for pheno-tuning compounds, which induce a phenotypic change and decrease cell-to-cell variation, aiming to undermine the entire bacterial population and make it more vulnerable to other drugs. We apply this strategy to mycobacteria, as tuberculosis poses a major public-health threat. Our lead compound impairs Mycobacterium tuberculosis via a peculiar mode of action and enhances other anti-tubercular drugs. This work proves that harnessing phenotypic variation represents a successful approach to tackle pathogens that are increasingly difficult to treat.
Conserved regulatory switches for the transition from natal down to juvenile feather in birds
Authors: Chen Chih-Kuan , Chang Yao-Ming , Jiang Ting-Xin , Yue ZhiCao , Liu Tzu-Yu , Lu Jiayi , Yu Zhou , Lin Jinn-Jy , Vu Trieu-Duc , Huang Tao-Yu , Harn Hans I-Chen , Ng Chen Siang , Wu Ping , Chuong Cheng-Ming , Li Wen‐Hsiung 
Published: May 2024

AbstractThe transition from natal downs for heat conservation to juvenile feathers for simple flight is a remarkable environmental adaptation process in avian evolution. However, the underlying epigenetic mechanism for this primary feather transition is mostly unknown. Here we conducted time-ordered gene co-expression network construction, epigenetic analysis, and functional perturbations in developing feather follicles to elucidate four downy-juvenile feather transition events. We report that extracellular matrix reorganization leads to peripheral pulp formation, which mediates epithelial-mesenchymal interactions for branching morphogenesis. α-SMA (ACTA2) compartmentalizes dermal papilla stem cells for feather renewal cycling. LEF1 works as a key hub of Wnt signaling to build rachis and converts radial downy to bilateral symmetry. Novel usage of scale keratins strengthens feather sheath with SOX14 as the epigenetic regulator. We show that this primary feather transition is largely conserved in chicken (precocial) and zebra finch (altricial) and discuss the possibility that this evolutionary adaptation process started in feathered dinosaurs.
Gut microbiota produces biofilm-associated amyloids with potential for neurodegeneration
Authors: Fernández-Calvet Ariadna , Matilla-Cuenca Leticia , Izco María , Navarro Susanna , Serrano Miriam , Ventura Salvador , Blesa Javier , Herráiz Maite , Alkorta-Aranburu Gorka , Galera Sergio , Ruiz de los Mozos Igor , Mansego María Luisa , Toledo-Arana Alejandro , Alvarez-Erviti Lydia , Valle Jaione 
Published: May 2024

AbstractAge-related neurodegenerative diseases involving amyloid aggregation remain one of the biggest challenges of modern medicine. Alterations in the gastrointestinal microbiome play an active role in the aetiology of neurological disorders. Here, we dissect the amyloidogenic properties of biofilm-associated proteins (BAPs) of the gut microbiota and their implications for synucleinopathies. We demonstrate that BAPs are naturally assembled as amyloid-like fibrils in insoluble fractions isolated from the human gut microbiota. We show that BAP genes are part of the accessory genomes, revealing microbiome variability. Remarkably, the abundance of certain BAP genes in the gut microbiome is correlated with Parkinson’s disease (PD) incidence. Using cultured dopaminergic neurons and Caenorhabditis elegans models, we report that BAP-derived amyloids induce α-synuclein aggregation. Our results show that the chaperone-mediated autophagy is compromised by BAP amyloids. Indeed, inoculation of BAP fibrils into the brains of wild-type mice promote key pathological features of PD. Therefore, our findings establish the use of BAP amyloids as potential targets and biomarkers of α-synucleinopathies.
Mechanically robust and personalized silk fibroin-magnesium composite scaffolds with water-responsive shape-memory for irregular bone regeneration
Authors: Mao Zhinan , Bi Xuewei , Yu Chunhao , Chen Lei , Shen Jie , Huang Yongcan , Wu Zihong , Qi Hui , Guan Juan , Shu Xiong , Yu Binsheng , Zheng Yufeng 
Published: May 2024

AbstractThe regeneration of critical-size bone defects, especially those with irregular shapes, remains a clinical challenge. Various biomaterials have been developed to enhance bone regeneration, but the limitations on the shape-adaptive capacity, the complexity of clinical operation, and the unsatisfied osteogenic bioactivity have greatly restricted their clinical application. In this work, we construct a mechanically robust, tailorable and water-responsive shape-memory silk fibroin/magnesium (SF/MgO) composite scaffold, which is able to quickly match irregular defects by simple trimming, thus leading to good interface integration. We demonstrate that the SF/MgO scaffold exhibits excellent mechanical stability and structure retention during the degradative process with the potential for supporting ability in defective areas. This scaffold further promotes the proliferation, adhesion and migration of osteoblasts and the osteogenic differentiation of bone marrow mesenchymal stem cells (BMSCs) in vitro. With suitable MgO content, the scaffold exhibits good histocompatibility, low foreign-body reactions (FBRs), significant ectopic mineralisation and angiogenesis. Skull defect experiments on male rats demonstrate that the cell-free SF/MgO scaffold markedly enhances bone regeneration of cranial defects. Taken together, the mechanically robust, personalised and bioactive scaffold with water-responsive shape-memory may be a promising biomaterial for clinical-size and irregular bone defect regeneration.
Mycobacterial biotin synthases require an auxiliary protein to convert dethiobiotin into biotin
Authors: Qu Di , Ge Peng , Botella Laure , Park Sae Woong , Lee Ha-Na , Thornton Natalie , Bean James M. , Krieger Inna V. , Sacchettini James C. , Ehrt Sabine , Aldrich Courtney C. , Schnappinger Dirk 
Published: May 2024

AbstractLipid biosynthesis in the pathogen Mycobacterium tuberculosis depends on biotin for posttranslational modification of key enzymes. However, the mycobacterial biotin synthetic pathway is not fully understood. Here, we show that rv1590, a gene of previously unknown function, is required by M. tuberculosis to synthesize biotin. Chemical–generic interaction experiments mapped the function of rv1590 to the conversion of dethiobiotin to biotin, which is catalyzed by biotin synthases (BioB). Biochemical studies confirmed that in contrast to BioB of Escherichia coli, BioB of M. tuberculosis requires Rv1590 (which we named “biotin synthase auxiliary protein” or BsaP), for activity. We found homologs of bsaP associated with bioB in many actinobacterial genomes, and confirmed that BioB of Mycobacteriumsmegmatis also requires BsaP. Structural comparisons of BsaP-associated biotin synthases with BsaP-independent biotin synthases suggest that the need for BsaP is determined by the [2Fe–2S] cluster that inserts sulfur into dethiobiotin. Our findings open new opportunities to seek BioB inhibitors to treat infections with M. tuberculosis and other pathogens.
Spontaneously established reverse electric field to enhance the performance of triboelectric nanogenerators via improving Coulombic efficiency
Authors: Gao Yikui , He Lixia , Liu Di , Zhang Jiayue , Zhou Linglin , Wang Zhong Lin , Wang Jie 
Published: May 2024

AbstractMechanical energy harvesting using triboelectric nanogenerators is a highly desirable and sustainable method for the reliable power supply of widely distributed electronics in the new era; however, its practical viability is seriously challenged by the limited performance because of the inevitable side-discharge and low Coulombic-efficiency issues arising from electrostatic breakdown. Here, we report an important progress on these fundamental problems that the spontaneously established reverse electric field between the electrode and triboelectric layer can restrict the side-discharge problem in triboelectric nanogenerators. The demonstration employed by direct-current triboelectric nanogenerators leads to a high Coulombic efficiency (increased from 28.2% to 94.8%) and substantial enhancement of output power. More importantly, we demonstrate this strategy is universal for other mode triboelectric nanogenerators, and a record-high average power density of 6.15 W m−2 Hz−1 is realized. Furthermore, Coulombic efficiency is verified as a new figure-of-merit to quantitatively evaluate the practical performance of triboelectric nanogenerators.