bluuebunny/crossref_metadata_2025_split huggingface dataset:
A New Unc45a 5'utr Variant In Patients With Aagenaes Syndrome
Authors: Tan Turkan Turkut , Dogan Yusuf Can , Yilmaz Zehra Burcu , Avci Durmusalioglu Enise , Oguz Ezgi , Ayyildiz Durdugul Emecen , Isik Esra , Aydogdu Sema , Cogulu Ozgur , Atik Tahir 
Published: January 2025

ABSTRACTAagenaes syndrome, also known as lymphoedema cholestasis syndrome 1 (LCS1), is a rare autosomal recessive disorder characterized by neonatal cholestasis and chronic lymphedema, primarily affecting the lower extremities. The genetic basis for this syndrome was recently linked to a variant in the 5′‐untranslated region (5’‐UTR) of the UNC45A gene, located on chromosome 15q. This study aimed to identify the genetic mutations associated with Aagenaes syndrome in two siblings and to explore their clinical implications. Whole‐exome sequencing (WES) was conducted on two siblings with neonatal cholestasis and lymphedema. WES identified a single base pair change in the 5′‐untranslated region (5’‐UTR) of the UNC45A gene (c.‐88G>A) in both siblings. Additionally, both were heterozygous for an exonic loss‐of‐function variant (c.1591C>T; p.Arg531Ter) in UNC45A. Clinically, both siblings presented with neonatal cholestasis and lymphedema; however, one sibling developed severe liver failure, requiring a liver transplant. Despite carrying the same variants, the clinical outcomes differed between the two patients. The identification of a novel 5’‐UTR variant (c.‐88G>A), along with an exonic variant in UNC45A, expands the genetic and clinical understanding of Aagenaes syndrome. This study confirms the involvement of the 5’‐UTR region of UNC45A in the disease pathogenesis, while demonstrating that Aagenaes syndrome is not exclusively associated with the previously reported c.‐98G>T variant found in Norwegian cases. These findings underscore the importance of genetic screening for accurate diagnosis and management of Aagenaes syndrome and provide new insights into the critical regulatory role of the 5’‐UTR in disease development. Further research is needed to elucidate the mechanisms underlying phenotypic variability in this rare disorder. Evaluation of mRNA and protein levels would have been valuable to better understand the functional effects of these variants; however, due to current resource constraints, such studies could not be conducted.
Dual sensory impairment: Global prevalence, future projections, and its association with cognitive decline
Authors: Yeo Brian Sheng Yep , Gao Esther Yanxin , Tan Benjamin Kye Jyn , Ong Benedict Ding Chao , Cho Ryan Wei Yang , Lim Chee Yit , Man Ryan Eyn Kidd , Fenwick Eva K. , Gupta Preeti , Chen Christopher Li‐Hsian , Chew Samuel Teong Huang , Teo Neville Wei Yang , Toh Song Tar , Ng Jia Hui , Tan Vanessa Yee Jueen , Lamoureux Ecosse L. 
Published: January 2025

AbstractThere is rising public health concern surrounding dual sensory impairment (DSI), or comorbid hearing and vision impairments. Its global prevalence and the magnitude of its association with cognitive decline (CD) is unclear. Three databases were searched for epidemiological studies examining DSI prevalence or its association with CD. Independent reviewers selected studies, extracted data, and evaluated bias. Random‐effects meta‐analyses were performed. Projections were estimated using United Nations data. The population attributable fraction of DSI‐associated CD was calculated. Among 43 studies with 5,246,796 participants, clinically assessed DSI prevalence was 5.50% (95% confidence interval [CI] = 2.88%–10.26%), with regional/ethnic/age variations. DSI prevalence is projected to increase by 27.2% from 2025 to 2050. Approximately 59.83% (95%CI = 41.03–76.12) of DSI patients had cognitive impairment. Baseline DSI was associated with incident CD (odds ratio [OR] = 1.72, 95%CI = 1.37–2.15). Globally, 3.81% (95%CI = 1.05–10.55) of incident CD may be attributed to DSI. DSI is globally prevalent, growing, and associated with CD, highlighting the need for better health policy and resource allocation.Highlights
The global prevalence of DSI is 5.50%, with geographical, ethnical and age variations.
The prevalence of DSI rises with age and is projected to increase by 27.2% by 2050.
Approximately 60% of individuals with DSI may have measurable cognitive impairment.
DSI was associated with a 72% greater longitudinal risk of incident CD.
Globally, 3.81% of CD cases may be attributable to DSI.
Micromachining of Intricate Microchannels on the Polycarbonate Using Ultrafast Laser Ablation
Authors: Basha D. Nazeer , Rakesh Chintha , Samuel G. L. , Bathe Ravi 
Published: January 2025

ABSTRACTUltrafast laser processing enables the fabrication of microscale structures in diverse materials without inducing heat‐affected zones. The ablation and micromachining properties of polycarbonate were investigated using a femtosecond‐pulsed laser with an 800 nm wavelength and a 100 fs pulse duration. Ablation threshold fluence was determined to be 0.0112 J/cm2. Response Surface Methodology based on the Box–Behnken design was applied for the optimization of the conditions of the micromachining process with respect to laser pulse energy, scanning speed, and line spacing. An increased rate of material removal by a higher laser power of 800 mW decreased in the case of the lower power of 100 mW. Line spacing became very critical because while varying from 5 to 15 μm, it resulted in a different machining pattern. An increased scanning speed decreased the machined depth. The highest material removal rate achieved is reported as 4.9 × 106 μm3/s under optimum conditions. Intricate microchannels with accurate dimensions fabricated in a polycarbonate disk have been ensured to have no or very minimal thermal damage. The results obtained have significant relevance to present useful information on precision micromachining of polycarbonate with huge potential for developing polymer‐based microdevices.
Inhibition of Wax Crystallization and Asphaltene Deposition by Star Poly(Octadecyl Acrylate‐Styrene) (POA‐St) for African Crude Oil
Authors: Xi Zuojia , Zhang Xubiao , Yang Chaohe , Xu Jun 
Published: January 2025

ABSTRACTIn the global energy landscape, the development of desert oil in Africa has increased the diversity of world oil supply and helped maintain the balance of the global energy market. However, wax precipitation and asphaltene deposition cause numerous challenges during the recovery and pipeline transportation of African crude oil. Traditional linear polymer additives often have limited wax‐modifying and asphaltene‐dispersing efficiency. In this work, linear poly(octadecyl acrylate‐styrene) (POA‐St) and a series of star POA‐St copolymers with different arm numbers (3, 4, and 6) were synthesized through reversibly additive fragment chain transfer polymerization. The effects of the linear and star POA‐St on the wax precipitating properties, pour point, rheology, and asphaltene stability of African waxy crude oil were studied in detail. The star POA‐St copolymers show superior performance compared with linear polymers in inhibiting wax crystal formation, improving crude oil rheology, and stabilizing asphaltene. Increasing the arm number of star POA‐St greatly improves its performance. Star POA‐St‐6 reduces the wax appearance temperature of the crude oil from 53.7°C to 51.1°C. At 20°C, the addition of the star POA‐St‐6 reduces the pour point of crude oil from 30°C to 21°C, and the viscosity and yield stress decrease by 74% and 55.2%, respectively. In addition, star POA‐St‐6 increases the initial precipitation points of asphaltene from 44.3% to 57.1%, showing a splendid asphaltene inhibiting efficiency. We speculate that the star POA‐St stabilizes asphaltene aggregates among its arms and changes the wax crystal morphology through co‐crystallization and nucleation effects, thereby exhibiting good performance. These findings provide prospective insights and avenues for the structural optimization and innovation of a new type of pour point depressant.
Effect of Boron Modification on Characteristics of Phenolic Resin and Its Char
Authors: Abraham Anu Anna , Kampalath Veettil Aneesh , Golla Rama Rao , Subramaniam Seetharaman , Adusumalli Ramesh 
Published: January 2025

ABSTRACTResole type Phenol‐formaldehyde resins are known for their thermal stability and char yield. The thermal and ablative performance of phenolic resins can be further improved by incorporating inorganic elements like boron to the phenolic resin structure. These modifications can also affect the structure and properties of char which is formed during ablation. This paper aims at comparing the properties of phenolic resin and its char, with and without boron modification. Differential scanning calorimeter (DSC), Dynamic mechanical analysis (DMA), Rheometer was used to study the cure behavior of the liquid resins. Using Thermogravimetric analysis (TGA), the change in thermal stability and char yield with change in cure temperature was studied for the modified resin. TGA revealed a better thermal stability, with increase in temperature of maximum degradation rate by 62°C and increase in char yield from 55% to 70% in case of boron modified phenolic resins. The rheometer data shows that phenolic resin gelation takes place after 140°C, whereas for modified resins, gelation takes place after 200°C indicating a higher reaction temperature for the modified resin. The char obtained by pyrolysis of the resins at 800°C was characterized using FTIR, X‐Ray photoelectron spectroscopy (XPS) and X‐Ray diffraction (XRD). From thermal stability and char yield studies, it can be concluded that boron modified resin system is superior to the phenolic resin making it a potential candidate for high temperature and ablative applications.
Effect of Phosphorus‐Containing Silane Coupling Agents Modified Ammonium Polyphosphate on the Flame Retardancy and Mechanical Properties of Epoxy Resin
Authors: Wang Song , Ma Rumeng 
Published: January 2025

ABSTRACTTwo phosphorus‐containing silane coupling agents (PSCAs), KH550‐P and KH560‐P, are successfully prepared by reacting 10‐hydroxy‐9,10‐dihydro‐9‐oxa‐10‐phosphorus‐10‐oxide (DOPOOH) with (3‐aminopropyl) triethoxysilane (KH550) and 3‐glycidyloxypropyltrimethoxysilane (KH560), respectively. These two PSCAs are used as the surface modification agents of ammonium polyphosphate (APP). The flame retardancy and mechanical properties of epoxy resin (EP) with PSCA‐modified APP are investigated. When the weight ratio of APP to PSCAs is 18:2 and the addition amount of PSCA‐modified APPs, APP‐KH550‐P18:2 and APP‐KH560‐P18:2, in EP reaches 8%, the resulting flame‐retardant EP composite materials, EP/APP‐KH550‐P18:2 and EP/APP‐KH560‐P18:2, exhibit good flame retardancy of a V‐0 rating in the vertical combustion test (UL‐94). The limiting oxygen index values of both EP/APP‐KH550‐P18:2 and EP/APP‐KH560‐P18:2 are higher than 30%. The peak heat release rates of EP/APP‐KH550‐P18:2 and EP/APP‐KH560‐P18:2 decrease by 13.8% and 28.5%, respectively, compared to EP containing 8% APP (EP/APP). Both KH550‐P and KH560‐P demonstrate similar performance in enhancing the flame retardancy of APP. When APP‐KH550‐P18:2 is added to EP, the mechanical properties of EP/APP‐KH550‐P18:2 are found to be similar to those of EP/APP. Conversely, the tensile strength and impact strength of EP/APP‐KH560‐P18:2 increase by 23.8% and 74.3%, respectively, compared to EP/APP. KH560‐P shows significantly better performance in the flame‐retardant EP.
The aging human larynx, presbyphonia, and voice quality: The evolutionary and social effects on listeners
Authors: Laitman Benjamin M. , Laitman Jeffrey T. 
Published: January 2025

AbstractThe human voice is a major signal transmission modality for our species. Accordingly, perception of its quality serves as an intraspecific window into the status of an individual's health, robusticity, and even stature in the group. Diminished quality—as may occur in aging or certain diseases—is a major feature in the lessening of an individual's communication modality. Here, we review the underlying anatomy and function that comprise the voice producing elements—the vocal tract sensu lato—from the lungs through the larynx and supralaryngeal modifying elements. Aspects of the aging larynx and constituent elements such as the vocal folds (“true vocal cords”) and intrinsic laryngeal joints, are discussed within the context of how their aging or disease degradation may affect an individual's speech and concomitant perception and interpretation by listeners. The aging voice is considered within the context of the overall effects of aging sensory systems in both humans and other mammals.
Serum Type I Interferon Score predicts clinically meaningful disease progression in limited cutaneous Systemic Sclerosis
Authors: Di Donato Stefano , Ross Rebecca , Karanth Ranjitha , Kakkar Vishal , De Lorenzis Enrico , Bissell Lesley‐Anne , Clark Kristina , Yee Philip , Denton Christopher P. , Del Galdo Francesco 
Published: January 2025

ObjectiveTo assess the value of serum Type I Interferon (IFN) score in predicting clinically meaningful progression in limited cutaneous systemic sclerosis (lcSSc) using a novel composite endpoint adopted from the MINIMISE clinical trial.MethodsA retrospective, longitudinal lcSSc cohort was identified within a national, multicentre observational cohort. The MINIMISE combined Morbi‐mortality endpoint was used as clinical outcome for a time to clinical worsening (TTCW) design. IFN score was calculated from the serum concentration of CCL2, CCL8, CCL19, CXCL9, CXCL10, and CXCL11 on patients and age‐ and sex‐matched healthy controls (HC). “High” IFN score was defined as two standard deviations above HC mean. The association of the IFN score with TTCW was assessed using Cox Proportional Hazard regressions and Kaplan‐Meier curves. The potential improvement in risk stratification when combining IFN score with lcSSc clinical features was explored.ResultsA total of 149 patients were included in the analysis, 67 “High” IFN and 82 “Low”. “High” IFN patients presented a shorter TTCW (74.7 months [95% C.I. 70.1‐79.3] vs 110.6 [95% C.I. 107.2‐114.0], p<0.001) and met the endpoint in higher proportion compared to “Low” IFN (55% vs 12%, p<0.001). “High” IFN score conferred 5.5 (95% C.I. 2.7‐11.3) Hazard Ratio (HR) for TTCW compared to “Low” IFN and IFN score as a continuous variable conferred 2.38 (95% C.I. 1.4‐4.0) HR for TTCW independently of clinical variables. Pulmonary Arterial Hypertension, Interstitial Lung Disease, Digital Ulcers, and modified Rodnan Skin Score were associated to TTCW. An exploratory analysis showed that these clinical features improve risk stratification over time in combination with IFN score.ConclusionSerum assessment of Type I IFN activity is a valuable predictor of clinically meaningful outcomes in lcSSc. The combination of serum IFN score with sentinel clinical features can improve stratification strategies in clinical trials and patient management.image
Evolving stories of self: Informational transitions and tattoos
Authors: Krtalić Maja , Campbell‐Meier Jennifer , Solhjoo Niloofar 
Published: January 2025

AbstractThroughout history, tattoos have served as a means of expressing identity, culture, and preserving information. Beyond their visual appeal, tattoos continue to be used in the modern world as a way for individuals to showcase their identity, honor and remember others, and mark significant events. In this paper, we explore the connection between tattoos and life transitions from an informational perspective. We view tattoos and the act of tattooing as a complex process that involves cognitive, physical, and emotional interactions with information on both an individual and societal level. The information experience approach aligns with this holistic and multifaceted nature of interacting with information, and we have employed this approach to structure our study. The study is based on interviews with 23 participants in Aotearoa New Zealand and highlights how tattoos serve as forms of information and mediums for comprehending and navigating life transitions. The findings reveal the role of tattoos as initiators, enablers, and resolvers of transitions, and explain how transition is experienced through tattoos. This study contributes to the understanding of tattoos as informational transitions and provides insights into their role in addressing the dissonance experienced in life transitions.
Automated Acquisition of Historical Water Distribution Pipe Repair Location Data
Authors: Scawthorn Charles , McGlinchy Joseph , Porter Keith 
Published: January 2025

ABSTRACTWe report an innovative method of extracting water distribution network (WDN) historical repair location data from images of paper repair data maps, to provide usable geo‐referenced digitally formatted data. For most water utilities, repair location data typically fall into two eras: pre‐ and post‐GIS, approximately corresponding to pre‐ and post‐2000. Automated conversion of pre‐2000 paper maps to a geo‐referenced digital format provides additional data to clarify trends in pipe repair causative factors, such as material defects, corrosive or creeping soils, and traffic. We applied the methodology to more than 3,000 maps of the Los Angeles Department of Water and Power WDN, thereby extending the record of repairs backward from 2000 to 1975, almost doubling the number of repair records. The methodology's value, when using the resulting data for analysis, lies in the following: (a) large volumes of hard copy data can now be acquired in an automated manner, saving significant time and effort, (b) specific repair locations are accurately captured, resulting in (c) more reliable, confident, analyses, and results, (d) ongoing problem areas, due to corrosive or creeping soils for example, can be more specifically understood.
University students' religiosity in the United Kingdom and Poland: An exploration of sociodemographic determinants
Authors: Fel Stanisław , Kozak Jarosław 
Published: January 2025

AbstractThe present paper aims to determine and compare religiosity levels in university students (n = 2098) from the United Kingdom (n = 1010) and Poland and to attempt an explanation of how nationality differences in the cultural context and affiliations with different religious traditions influence their religiosity. The current global trends regarding religiosity are marked by diversity, with an increasing polarisation between deeply religious and non‐religious individuals. This phenomenon differs across cultural and national contexts, which makes its analysis crucial for the contemporary sociology of religion. ANOVA and multiple linear regression analysis were performed to determine the effect of sociodemographic factors on religiosity. The analysis revealed significant differences in religiosity level between national groups, with the highest religiosity level among students of nationalities other than British or Polish. Command of English, age, gender, religious development and academic performance influenced religiosity level. The results suggest that university students' religiosity is a complex phenomenon, shaped by numerous variables, including nationality, religious affiliation and personal and academic experience. The understanding of these relationships may contribute to a better understanding of the role of religion in the life of contemporary societies and help adjust educational and social policies to students' diverse religious needs.
Multi‐Scale Structures, Functional Properties, and Applications of Starch Modified by Dry Heat Treatment
Authors: Velazquez Gonzalo , Mendez‐Montealvo Guadalupe , Flores‐Silva Pamela C. , Soler Adrian 
Published: January 2025

ABSTRACTDry heat treatment (DHT) is considered a green technology to modify starch structure and functionality since it does not generate effluents and avoids the use of chemical compounds, however, there is still no comprehensive understanding of the effects and mechanisms on the multi‐scale structure and their relationship with functionality. This paper reviewed and analyzed the effects of DHT on multi‐scale starch structures and functional properties, compared the performance of continuous and repeated DHT, discussed a mechanism of starch dry heating, and summarized the applications of dry‐heated starches. DHT evaporates water, accelerates the movement of starch molecules, and breaks hydrogen bonds, which changes the multi‐scale structure. In turn, structural modifications promoted by DHT affect the hydration properties, thermal stability, slowly digestible/resistant starch formation, and glycemic index. The multi‐scale structure and functional changes after DHT are strongly affected by the starch botanical source and process conditions. This review contributes to understanding the starch DHT modification and establishes a theoretical basis for advancing DHT applications in the starch industry.
Effectively Guiding Cell Elongation and Alignment by Constructing Micro/Nano Hierarchical Patterned Titania on Titanium Substrate
Authors: Bai Feng‐Jiao , Wang Hui , Hu Yu‐Qing , Shao Yun‐Fei , Zhu Yi‐Ran , Jiang Yu‐Lin , Hu Jian‐Chen , Zhao Hui‐Jing , Zhang Ke‐Qin 
Published: January 2025

ABSTRACTBased on the innate sensitivity of cell to substrate topographical cues, modulating cell‐directed growth behavior is crucial for promoting tissue repair and reconstruction. Although photolithography technology has been extensively employed to fabricate a variety of anisotropic patterned structures to guide cell growth, it remains a great challenge to design high‐resolution micro/nano hierarchical structures directly onto medical titanium (Ti)‐based implants. Herein, we present a rapid, reliable and reproducible approach combining photolithography and hydrothermal technology to construct a micro/nano hierarchical structure including anisotropic micro‐strips and a porous structure composed of TiO2 nanotubes features. In vitro biological and physicochemical analyses revealed that the micro/nano hierarchical structures not only efficiently facilitate the localization and adsorption of BSA molecules, but also enhances the control of cell growth behavior. The synergistic effect between the physical limitation for organizing cellular cytoskeleton at micropattern and the control of focal adhesion sits at the nanoscale can effectively guide cells to maintain stable elongation and alignment, even at large micro‐stripe width of 100 μm. This study presents a promising strategy to precisely construct micro/nano multi‐level patterned structure on Ti substrate using biomaterials with excellent biocompatibility. These functional micro/nano hybrid micropatterns offer a powerful platform for regulating bioreagent localization and cell behaviors in various applications including tissue engineering, regenerative medicine, drug screening, and biosensors.
Green and Climate Finance for Sustainability: Hybrid Review and Framework Development
Authors: Joshipura Mayank , Nasrallah Nohade , Kedia Nikita 
Published: January 2025

ABSTRACTAt the confluence of economic and environmental stewardship, climate finance upsurges as a dire necessity. The present study aims to synthesize the scattered literature on climate and green finance using bibliometric and content analysis of 631 and 53 articles, respectively. It also provides an integrated framework to gauge novel insights and theoretical underpinnings, proposing future research directions. We conclude with four emerging clusters: (a) financing for climate resilience and energy transition, (b) catalysts for eco‐innovation, (c) external and internal financing, and (d) enablers and barriers. The study has practical and theoretical implications for governments, policymakers, businesses, and financiers. Green finance is a key enabler of sustainable development, particularly in promoting the transition to ecological and renewable energy projects to align with broader social, economic, and environmental goals.