bluuebunny/crossref_metadata_2025_split huggingface dataset:
Extremely rare association: Desbuquois dysplasia type 1 with coronary-cameral fistula
Authors: Öztürk Musa , Tanrısever Türk Merve , Şimşek Kiper Pelin Özlem , Aykan Hayrettin Hakan 
Published: February 2025

Abstract

Purpose:
Desbuquois dysplasia type 1 is a rare autosomal recessive chondrodysplasia characterised by distinct skeletal abnormalities and multisystem involvement, including pulmonary, renal, and ocular abnormalities, has also been reported. Cardiac complications, although infrequently discussed in the literature, include aortopathy and atrioventricular valve prolapse, potentially due to defective proteoglycan production.

Case Report:
This case report details a 7-year-old male diagnosed with Desbuquois dysplasia type 1 and a coronary-cameral fistula, both of which are exceedingly rare conditions. Genetic analysis revealed a previously reported homozygous pathogenic variant in the calcium-activated nucleotidase 1 gene, ENST00000c.898C>T; p.Arg300Cys. Echocardiographic findings indicated significant cardiac enlargement, mitral valve prolapse, coronary-cameral fistula, pulmonary hypertension, advanced aortic root enlargement and aneurysmatic ascending aorta, and atrial septal defect, necessitating careful clinical management.

Conclusion:
This case underscores the complexity of Desbuquois dysplasia and its associated cardiac anomalies, highlighting the need for further research into the systemic implications of this disorder. To the best of our knowledge, this case has importance as it is the first of its kind in the literature.
High Altitude Dynamics in Cerebral Oxygenation of Mountain Rescue Personnel: A Prospective Alpine Proof-of-Concept Field Study
Authors: Schnaubelt Sebastian , Egger Alexander , Fuhrmann Verena , Tscherny Katharina , Niederer Maximilian , Uray Thomas , Schreiber Wolfgang , Herkner Harald , Roth Dominik 
Published: February 2025

Abstract

Background:
Mountain Rescue Services (MRS) are a vital link in the chain of survival when it comes to emergencies at high altitudes. Cognitive impairment in hypobaric hypoxic conditions is known, and previous studies have shown suboptimal performance of MRS members after a steep ascent. These impairments may be linked to regional cerebral oxygenation (rSO2). Therefore, this study aimed to investigate whether there are dynamics in rSO2 between “baseline” and “working” altitudes after climbing up to a potential patient.

Methods:
In this alpine proof-of-concept field study, experienced mountaineers of the Austrian MRS had to perform an active rapid ascent of 1,200 meters on foot to 3,454 meters above sea level. Near-infrared spectroscopy (NIRS) was used to measure rSO2 before and after the climb. Continuous data were compared among subgroups using Mann-Whitney-U tests, and categorical data were compared with χ2-square tests. Statistical significance was defined by two-tailed P values of <.05.

Results:
Twenty MRS members were assessed. Their rSO2 values at baseline altitude were significantly higher than at working altitude (70 [SD = 1]% versus 60 [SD = 1]%; absolute difference 10 [95% CI, 6-15]; P <.001). When assessing the single dynamics of each mountain rescuer, there was a wide variability in delta rSO2, ranging from a minimum of 0% to a maximum of 32% (mean 10 [SD = 8]%).

Conclusion:
Overall, low rSO2 values were found in mountain rescuers at high altitudes, and there were considerable interpersonal differences of changes in cerebral oxygenation after an ascent. Using rSO2 to assess performance-readiness in mountain rescuers and individual proneness to potential cognitive dysfunction or acute mountain sickness (AMS) could be further research goals.
Input misallocation and productivity dynamics
Authors: Lai Hung-pin , Kumbhakar Subal C. 
Published: February 2025

Abstract
This paper builds on Hsieh and Klenow’s (2009) model to offer a refined analysis of how input misallocations impact aggregate total factor productivity (TFP). We enhance the original model by relaxing the assumption of uniform input prices and adopting an econometric approach to estimate parameters using firm-level data. Estimation of model parameters and allocation efficiency is based on the system of input demand and the production function. We use an indirect inference approach to estimate the system to avoid maximum likelihood estimation, which often faces convergence issues, when there are numerous constraints. We demonstrate our model using the US firm-level manufacturing panel data from 1975 to 2010. Our final sample contains 55,518 observations. We divide the manufacturing industry into seven major categories. Our findings indicate that between 1975 and 2010, the average productivity growth rate was 2.8% but could have reached 3.2% without misallocation, highlighting the substantial gains possible through better resource allocation.
Linguistic convergence in U.S.-raised Spanish–English bilinguals’ nominal demonstrative use
Authors: Lease Sarah , Shin Naomi 
Published: February 2025

Abstract
This study investigates linguistic convergence in Spanish–English bilinguals’ demonstrative use in English (this/that) and Spanish (este/ese). Participants completed a task that tested the influence of speaker-referent distance on demonstrative use. Study 1 includes Spanish-speaking monolinguals in Mexico, English-speaking monolinguals in the USA, and Spanish–English bilinguals who were born in the USA or arrived at a young age. Results show that speaker-referent distance constrained all groups’ demonstrative use; however, this effect was weaker in the bilinguals’ Spanish as compared to the Spanish-speaking monolinguals. Study 2 focuses on the bilinguals’ demonstratives. Group-level and individual analyses present evidence for linguistic convergence: the bilinguals’ usage patterns were similar across their languages. Additionally, language dominance predicted usage patterns: the more English-dominant the participant, the greater the likelihood of producing proximal demonstratives for near and far referents alike. This pattern mirrors common diachronic changes, supporting the view that bilinguals may propel language change.
The Conditionality of Trusting Caseworkers in the Social Services Sector – Insights from Germany and Denmark
Authors: Zschache Ulrike , Schneider Stephanie , Brus Anne , Trenz Hans-Jörg 
Published: February 2025

Abstract
Citizen trust is a prerequisite for the success of service provision. However, working relations are typically shaped by power asymmetries and one-sided dependencies, contributing to cautiousness towards or distrust of caseworkers (Dumbrill, 2006; de Boer and Coady, 2007). This article sheds light on the conditions and mechanisms that lead (some) citizens nevertheless to trust their caseworker. Based on thematic coding of semi-structured interviews with twenty-five German and sixteen Danish welfare users, our findings elucidate how shared problem perceptions and positive experiences in direct working relationships with committed, citizens-oriented caseworkers mitigate structural asymmetries and allow trust-building. In particular, they underscore the importance of personal bonding and positive emotions, including feelings of sympathy, or even friendship, and of being seen, understood and respected. Our article strengthens the interpersonal, micro-level perspective on trust-building in welfare service provision and provides new empirical insights into the role of personal relations in trust-adverse institutionalised contexts.
Between Moscow and Geneva: The Soviet Red Cross and the International Red Cross Movement
Authors: Hearne Siobhán 
Published: February 2025

Abstract
In the decades after the death of Iosif Stalin in 1953, Soviet foreign policy shifted away from isolationism to knowledge transfer and competition with the West, as well as robust engagement with the decolonising and non-aligned world. A core component of this reorientation was the reversal of the USSR’s temporary withdrawal from international organisations. This article explores the Soviet Red Cross’s involvement in the League of Red Cross Societies and argues that the two organisations engaged in a mutually beneficial partnership that was built upon shared visions of humanitarianism and development. In this period, the Soviet Red Cross co-hosted major international seminars and conferences with the League, helped to channel humanitarian relief to conflict zones, and supported the League’s development initiatives in the Global South. In return, the League offered the Soviets opportunities to forge links with newly independent countries of the decolonising world and advance narratives about Soviet superiority to international and domestic audiences.
Introducing a psychological formulation model of maladaptive daydreaming
Authors: Lucas Amy , Bone Alexandra 
Published: February 2025

Abstract
Maladaptive daydreaming (MD) is an increasingly recognised mental health difficulty, which refers to a compulsive cycle of dissociative absorption in vivid mental fantasy that results in clinical distress and functional impairment. Fantasies are usually complex in plot and characters, and are highly pleasurable and absorbing. MD provides temporary escape, soothing, or attempted processing of difficult internal and external experiences, but results in longer-term negative consequences that both create and exacerbate real-life suffering. The literature thus far has expanded beyond defining and understanding MD and has turned its attention towards assessment and pilot interventions. This paper presents the first formulation framework and associated diagrammatic model of MD, drawing upon the existing evidence base and cognitive behavioural theory to capture its development, maintenance, and processes. The model was reviewed by two leading experts in the field and trialled by three contributors with lived experience of MD. Feedback was positive, suggesting it accurately captured and organised the complexity and depth of the MD experience, facilitated the development of personal insight, and fostered a sense of hope with regard to creating change. The model is intended for use within clinical practice to aid mental health professionals and people with MD to guide assessment, collaborative discovery and formulation, and intervention. It is imperative that the model be tested further within research and clinical practice to further ensure its efficacy, validity, and applicability for people with MD.

Key learning aims

(1)
To consider the development and maintenance factors, and processes involved in MD from a cognitive behavioural perspective.

(2)
To introduce a new formulation model for MD and understand how the model can be used in clinical practice.

(3)
To highlight how psychological formulation has the power to better understand and organise the complex and often overwhelming MD phenomenon and provide hope for meaningful change.
Building Trust with AI: How Essential is Validating AI Models in the Therapeutic Triad of Therapist, Patient, and Artificial Third? Comment on What is the Current and Future Status of Digital Mental Health Interventions?
Authors: Garcia-Rudolph Alejandro , Sánchez-Pinsach David , Gilabert Anna , Saurí Joan , Soler Maria Dolors , Opisso Eloy 
Published: February 2025

Abstract
Since the publication of “What is the Current and Future Status of Digital Mental Health Interventions?” the exponential growth and widespread adoption of ChatGPT have underscored the importance of reassessing its utility in digital mental health interventions. This review critically examined the potential of ChatGPT, particularly focusing on its application within clinical psychology settings as the technology has continued evolving through 2023 and 2024. Alongside this, our literature review spanned US Medical Licensing Examination (USMLE) validations, assessments of the capacity to interpret human emotions, analyses concerning the identification of depression and its determinants at treatment initiation, and reported our findings. Our review evaluated the capabilities of GPT-3.5 and GPT-4.0 separately in clinical psychology settings, highlighting the potential of conversational AI to overcome traditional barriers such as stigma and accessibility in mental health treatment. Each model displayed different levels of proficiency, indicating a promising yet cautious pathway for integrating AI into mental health practices.
Soft back exosuit controlled by neuro-mechanical modeling provides adaptive assistance while lifting unknown loads and reduces lumbosacral compression forces
Authors: Moya-Esteban Alejandro , Refai Mohamed Irfan , Sridar Saivimal , van der Kooij Herman , Sartori Massimo 
Published: February 2025

Abstract
State-of-the-art controllers for active back exosuits rely on body kinematics and state machines. These controllers do not continuously target the lumbosacral compression forces or adapt to unknown external loads. The use of additional contact or load detection could make such controllers more adaptive; however, it can be impractical for daily use. Here, we developed a novel neuro-mechanical model-based controller (NMBC) that uses a personalized electromyography (EMG)-driven musculoskeletal (MSK) model to estimate lumbosacral joint loading. NMBC provided adaptive, subject- and load-specific assistive forces proportional to estimates of the active part of biological joint moments through a soft back support exosuit. Without a priori information, the maximum assistive forces of the cable were modulated across weights. Simultaneously, we applied a non-adaptive, kinematic-dependent, trunk inclination-based controller (TIBC). Both NMBC and TIBC reduced the mean and peak biomechanical metrics, although not all reductions were significant. TIBC did not modulate assistance across weights. NMBC showed larger reductions of mean than peak values, significant reductions during the erect stance and the cumulative compressive loads by 21% over multiple cycles in a cohort of 10 participants. Overall, NMBC targeted mean lumbosacral compressive forces during lifting without a priori information of the load being carried. This may facilitate the adoption of non-hindering wearable robotics in real-life scenarios. As NMBC is informed by an EMG-driven MSK model, it is possible to tune the timing of NMBC-generated torque commands to the exosuit (delaying or anticipating commands with respect to biological torques) to target further reduction of peak or mean compressive forces and muscle fatigue.
Initial Thermal States of Super‐Earth Exoplanets and Implications for Early Dynamos
Authors: White Nathaniel I. , Li Jie 
Published: February 2025

AbstractThe accretion of Earth and the formation of a metallic core released a large amount of primordial heat and may have enabled its evolution into a habitable world. Metal‐silicate segregation likely occurs in super‐Earth exoplanets as well, but its influence on their initial thermal states has not been fully examined. Here we calculated the energy released during core‐mantle differentiation of super‐Earths for a range of planet radii and core mass fractions. We found that the energy of differentiation increases with planet mass for rocky planets with Earth‐like composition, and it peaks at 55% core by mass in Earth‐sized rocky planets. Using the latest mineral physics constraints on the equations‐of‐state and melting curve of relevant phases, we modeled the initial thermal profiles and assessed the extent of melting in initial iron cores for plausible heat retention efficiencies. Our results suggest that following accretion and metal‐silicate differentiation, the cores of most super‐Earths are expected to be at least partially molten, a necessary condition for the generation of a magnetic field. Based on the largely molten state of Earth's core at the present day, we place a lower bound of 7% retention of accretional energy as primordial heat in rocky planets.
Childhood trauma cortisol and immune cell glucocorticoid transcript levels are associated with increased risk for suicidality in adolescence
Authors: Goltser-Dubner Tanya , Benarroch Fortu , Lavon Michal , Amer Reaan , Canetti Laura , Giesser Ruth , Kianski Ella , Martin Josef , Pevzner Dalya , Blum Weinberg Pnina , Ben-Ari Amichai , Bar-Nitsan Moriah , Alon Shaked , Yshai Shai , Lotan Amit , Galili-Weisstub Esti , Segman Ronen , Shalev Amit 
Published: February 2025

Abstract
Rising adolescent suicide rates present a growing unmet need. Childhood trauma (CT) has been associated with altered cortisol dynamics and immune cell glucocorticoid reactivity, yet their additive longer-term contributions to later suicide outcomes are less clear. The current study compared CT scores, resting salivary free cortisol and mononuclear cell gene expression levels of the nuclear receptor, subfamily 3, member 1 (NR3C1) coding the glucocorticoid receptor, and its co-chaperons FKBP prolyl isomerase 5 (FKBP5) and KIT Ligand (KITLG), between a cohort of adolescents presenting with a suicidal crisis requiring hospital treatment, and matched healthy controls. Childhood trauma scores and glucocorticoid measures were significantly altered among suicidal adolescents, and CT scores correlated with mononuclear cell glucocorticoid transcripts. Both CT scores and glucocorticoid measures explained substantial additive portions of the variance in adolescent suicidality. Long-term perturbations in cortisol dynamics and immune cell glucocorticoid response elements denote dysregulated immune stress reactivity, and may possess value in prediction and point to modifiable-risk factors in prevention of clinically significant suicidality during the brittle period of adolescence, years after childhood trauma exposure.
Targeting AKT as a promising strategy for SOX2-positive, chemoresistant osteosarcoma
Authors: Liu Yujie , Kang Li , Luo Jing , Yang Minglei , Wang Da , Ye Juelan , Yang Xinghai , Wan Wei , Wong Jiemin , Xiao Jianru 
Published: February 2025

Abstract
Osteosarcoma (OS) is the most prevalent type of primary malignant bone cancer and currently lacks effective targeted treatments. Increasing evidence indicates that SOX2 overexpression is a primary driver of OS. By screening a small-molecule kinase inhibitor library, we identified AKT as a kinase essential for robust SOX2 expression in OS cells. AKT was found to be frequently overexpressed in OS and positively correlated with SOX2 protein levels. We demonstrated that AKT has no effect on SOX2 transcription but promotes SOX2 protein stability. Mechanistically, AKT binds to and phosphorylates SOX2 at T116, preventing SOX2 ubiquitination and proteasome-dependent degradation by ubiquitin E3 ligases UBR5 and STUB1. Moreover, we found that AKT-SOX2 axis is a significant modulator of cancer stemness and chemoresistance and that the combination of AKT inhibitor MK2206 and cisplatin resulted in a synergistic and potent inhibition of OS tumor growth in the PDX model. In conclusion, we identified a critical role for AKT in promoting SOX2 overexpression, tumor stemness, and chemoresistance in OS, and provided evidence that targeting AKT combined with chemotherapy may hold promise for treating refractory OS.
CCN2 mediates fibroblast-macrophage interaction in knee arthrofibrosis based on single-cell RNA-seq analysis
Authors: Li Ziyun , Jiang Jia , Cai Kangwen , Qiao Yi , Zhang Xuancheng , Wang Liren , Kang Yuhao , Wu Xiulin , Zhao Benpeng , Wang Xiuli , Zhang Tianyi , Lin Zhiqi , Wu Jinlong , Lu Simin , Gao Haihan , Jin Haocheng , Xu Caiqi , Huangfu Xiaoqiao , James Zhengzhi , Chen Qiuhua , Zheng Xiaoqi , Liu Ning-Ning , Zhao Jinzhong 
Published: February 2025

Abstract
Knee arthrofibrosis, characterized by excessive matrix protein production and deposition, substantially impairs basic daily functions, causing considerable distress and financial burden. However, the underlying pathomechanisms remain unclear. Here, we characterized the heterogeneous cell populations and cellular pathways by combination of flow cytometry and single-cell RNA-seq analysis of synovial tissues from six patients with or without knee arthrofibrosis. Increased macrophages and fibroblasts were observed with decreased numbers of fibroblast-like synoviocytes, endothelial cells, vascular smooth muscle cells, and T cells in the arthrofibrosis group compared with negative controls. Notably, fibroblasts were discovered to interact with macrophages, and lead to fibrosis through TGF-β pathway induced CCN2 expression in fibroblasts. CCN2 was demonstrated to be required for fibroblast pro-fibrotic functions (activation, proliferation, and migration) through TGFBR/SMAD pathway. The expression of CCN2 was positively correlated with the collagen volume and TGF-β expression and negatively associated with patient-reported outcome measures in another cohort of patients with knee arthrofibrosis. Our study reveals the role of CCN2 in the fibroblast-macrophage interaction through TGF-β pathway which might help to shed light on CCN2 as a potential biomarker.
Additively-manufactured monocrystalline YBCO superconductor
Authors: Zhang Dingchang , Boffo Cristian , Dunand David C. 
Published: February 2025

Abstract
Single-crystal microstructures enable high-performance YBa2Cu3O7-x superconductors which are however limited to simple shapes due to their brittleness. Additive manufacturing can fabricate YBa2Cu3O7-x superconductor with complex shapes, albeit with a polycrystalline microstructure. Here, we demonstrate a route to grow single-crystals from 3D-ink-printed, polycrystalline, sintered superconducting YBa2Cu3O7-x (YBCO or Y123) + Y2BaCuO5 (Y211), manufacturing objects with complex architectures displaying both high critical current density (Jc=2.1 × 104 A.cm–2, 77 K) and high critical temperature (Tc= 88-89.5 K). An ink containing precursor powders (Y2O3, BaCO3, and CuO) is 3D-extruded into complex geometries and then reaction-sintered to obtain polycrystalline Y123 + Y211. A seed is then utilized to transform these 3D-printed parts from polycrystal to monocrystal via the melt growth method. The geometric details of 3D-printed parts survive the process without slumping, sagging or collapse, despite the long-term presence of liquid above the peritectic temperature. Origami structures can be created by sheet folding after 3D-printing. This additive approach enables the facile fabrication of superconducting devices with complex shapes and architectures, such as advanced undulator magnets to generate synchrotron radiation and microwave cavities for dark-matter axion search. This work highlights the potential of additive manufacturing for producing monocrystalline cuprate superconductors and opens the door to additive manufacturing of other monocrystalline functional ceramic or semiconductor materials.
Relationship between hearing thresholds and cognitive function in hearing aid non-users and long-term users post-midlife
Authors: Nishiyama Takanori , Kimizuka Tomomi , Kataoka Chinatsu , Tazoe Mami , Sato Yasunori , Hosoya Makoto , Shimanuki Marie N. , Wakabayashi Takeshi , Ueno Masafumi , Ozawa Hiroyuki , Oishi Naoki 
Published: February 2025

Abstract
The extent of hearing loss requiring hearing aid (HA) to prevent cognitive decline is unclear; we assessed this post-midlife along with the relationship between hearing thresholds and cognitive function in those who had never used HA (non-users) or used HAs for >3 years (long-term users). This study comprised 117 individuals ≥55 years with an average hearing threshold of ≥25 dB HL in their better ear and 55 of the non-users and 62 of the long-term users. The Mini-Mental State Examination, the Symbol Digit Modalities Test (SDMT), and pure-tone and sound-field audiometry were assessed. Mean ± SD hearing levels of the non-user and long-term user group were 40.83 ± 8.16 and 51.13 ± 14.80 dB HL. Non-users showed a significant association (P = 0.01) between the hearing thresholds and SDMT scores, with a cutoff value of above 38.75 dB HL identified as affecting cognitive function. There were no significant associations for long-term users.