bluuebunny/crossref_metadata_2025_split huggingface dataset:
Review of patients with achondroplasia: a single-center's experience with follow-up and associated morbidities
Authors: Soğukpınar Merve , Demir Gizem Ürel , Utine Gülen Eda , Gönç Elmas Nazlı , Özön Zeynep Alev , Şimşek-Kiper Pelin Özlem 
Published: June 2024

AbstractAchondroplasia (ACH; MIM #100,800), caused by a heterozygous gain of function pathogenic variant in the fibroblast growth factor receptor 3 gene (FGFR3; MIM*134,934), is the most prevalent and most readily identifiable cause of disproportionate short stature that is compatible with life. In addition, individuals with achondroplasia face significant medical, functional, and psychosocial challenges throughout their lives. This study assessed associated morbidities in patients with achondroplasia at a single center in Turkey. In this study, the clinical findings and associated morbidities of a group of patients with achondroplasia (n = 68) with clinical multidisciplinary follow-up at a single center between the years 2005–2023 are evaluated retrospectively. A total of 68 patients, 30 male (44.1%) and 38 female (55.9%), were evaluated. In the majority (84.2%) of patients, shortness of extremities was detected in the prenatal period at an average of 28.7 gestational weeks (± 3.6 SDS) with the aid of ultrasonography. More than half (n = 34/63, 54%) of the patients had a father of advanced paternal age (≥ 35 years). Among the complications, respiratory system manifestations, including obstructive sleep apnea (70%), ear-nose-throat manifestations including adenoid hypertrophy (56.6%) and otitis media (54.7%), neurological manifestations due to foramen magnum stenosis (53.2%), and skeletal manifestations including scoliosis (28.8%), are represented among the most common. The mortality rate was 7.3% (n = 5/68).Conclusion: This study not only represents the first retrospective analysis of the associated morbidities of patients with achondroplasia from a single center in Turkey but also will provide a reference point for future studies.
Geometry of Gaussian free field sign clusters and random interlacements
Authors: Drewitz Alexander , Prévost Alexis , Rodriguez Pierre-François 
Published: June 2024

AbstractFor a large class of amenable transient weighted graphs G, we prove that the sign clusters of the Gaussian free field on G fall into a regime of strong supercriticality, in which two infinite sign clusters dominate (one for each sign), and finite sign clusters are necessarily tiny, with overwhelming probability. Examples of graphs belonging to this class include regular lattices such as $${\mathbb {Z}}^d$$

Z

d

, for $$d\ge 3$$

d
≥
3

, but also more intricate geometries, such as Cayley graphs of suitably growing (finitely generated) non-Abelian groups, and cases in which random walks exhibit anomalous diffusive behavior, for instance various fractal graphs. As a consequence, we also show that the vacant set of random interlacements on these objects, introduced by Sznitman (Ann Math 171(3):2039–2087, 2010), and which is intimately linked to the free field, contains an infinite connected component at small intensities. In particular, this result settles an open problem from Sznitman (Invent Math 187(3):645–706, 2012).
A Bayesian hierarchical spatio-temporal model for summer extreme temperatures in Spain
Authors: García José Agustín , Acero Francisco Javier , Martínez-Pizarro Mario , Lara Manuel 
Published: June 2024

AbstractA statistical study was made of the summer extreme temperatures over peninsular Spain in the last forty years. Records from 158 observatories regularly distributed over Iberia with no missing data were available for the common period from 1981 to 2020. For this purpose, a hierarchical spatio-temporal model with a Gaussian copula and a generalized extreme value parametrization of the extreme events was used. The temporal trend in maximum extreme temperatures was studied making use of both a stationary model and a nonstationary one that takes into account the influence of anthropogenic climate change on extreme temperatures using the global mean temperature as a function of time for the study period. The results led to a better fit of the nonstationary model, with there being a 3.5-fold greater increase in the 20-year return level of the extreme temperatures than in that corresponding to the global mean temperature.
Systematic review: the impact of maternal pre-and postnatal cannabis use on the behavioral and emotional regulation in early childhood
Authors: Reyentanz Emely , Gerlach Jennifer , Kuitunen-Paul Sören , Golub Yulia 
Published: June 2024

Abstract
Prenatal exposure to alcohol and tobacco has been associated with child regulatory abilities and problems, but less is known about the associations with cannabis exposure. This review seeks to address this gap primarily focusing on the effects of maternal cannabis use on the child. Thus, we investigate the association between pre- and postnatal cannabis exposure of the child and regulatory abilities and problems, as well as the underlying neurobiological mechanisms potentially mediating the associations. According to the PRISMA guidelines, a systematic literature review was performed based on a systematic literature search through Medline (PubMed), Web of Science and PsycInfo, including studies assessing children aged 0–6 years with cannabis exposure in the preconception, pre-or postnatal period (preconception, pre- and postnatal cannabis exposure [PCE]) and investigating child regulatory abilities, regulatory problems or neurobiological mechanisms. Of n = 1061 screened articles, n = 33 were finally included. Diminished regulatory abilities are more likely to be found in infants after PCE, while specific regulatory problems tend to be more frequently found after two years of age. Possible mechanisms are related to changes in methylation and expression of key genes involved in endocannabinoid, dopaminergic and opioid systems, increased cortisol reactivity and altered Secretory Immunoglobulin A levels. Furthermore, PCE has been associated with changes in brain structure and connectivity. Current findings indicate that PCE is associated with both age-dependent alterations in self-regulation and neurobiological changes in young children. However, evidence is limited due to the number of studies, small sample sizes and lack of control for maternal psychopathology. Longitudinal studies including psychometric data from mothers are needed in order to further understand the implications of PCE.

Trial registration
: The review is registered with PROSPERO (ID: CRD42023425115).
A balancing act: integrating the expertise of youth peer workers in child and adolescent mental health services
Authors: de Beer C. R. M. , Vermeiren R. R. J. M. , Nooteboom L. A. , Kuiper C. H. Z. , Groenendijk J. C. M. L. , de Vreugd M. , van Domburgh L. 
Published: June 2024

Abstract
The socio-relational focus of youth peer support workers (YPSWs) poses a challenge when YPSWs are embedded in medical oriented contexts common to child and adolescent mental health services (CAMHS); as it requires YPSWs to find a balance between being a peer on one hand, and adhering to professional boundaries and medical standards set out by CAMHS on the other. To create a suitable position for YPSWs in CAMHS, this study investigated the unique socio-relational contributions YPSWs can make to CAMHS in addition to clinicians, and identified how these contributions can be embedded within CAMHS. This study reports on 37 semi-structured interviews conducted in the Netherlands with youth (n = 10), YPSWs (n = 10), and clinicians (n = 17). Overall, the unique socio-relational contributions YPSWs can make include: their ability to build authentic trusting relationships with youth by providing empowerment, promoting autonomy, valuing stillness in recovery, reducing isolation, recognizing strengths, and navigating life inside and outside of (residential) mental healthcare and beyond classification. Moreover, prerequisites to safeguard the integration of YPSWs and these socio-relational contributions were also identified, including YPSWs achieving stability in recovery, recent lived experiences with mental health challenges, and organizational support in terms of suitable treatment climate, resources to enhance flexibility of YPSWs, and shared goals regarding youth peer support work. Overall, YPSWs view youth holistically and foster a connection with youth based on youthfulness and recent lived experience. Involving YPSWs is an important step forward to drive positive transformation in CAMHS.
An undertaking specific approach to address diversifiable demographic risk within Solvency II framework
Authors: Clemente Gian Paolo , Della Corte Francesco , Savelli Nino 
Published: June 2024

AbstractThis study addresses the assessment of capital requirements in life insurance for idiosyncratic demographic risks arising from mortality and longevity in compliance with the Solvency II framework. A closed-formula methodology, using a cohort-based risk theoretical approach, is introduced to properly capture the volatility associated with policyholder deaths or survivals. This approach not only accounts for portfolio size effects but it also considers the impact of variability in sums insured within cohorts and coverage types with an additional specific address to distribution tails. The proposed methodology offers a viable alternative within the Solvency II context, addressing limitations identified in previous studies for the Standard Formula nowadays in force. Focusing only on the diversifiable part of demographic risk, the approach considers company’s specific parameters through a risk-based formula, as opposed to a simple scenario approach with demographic stress on the Best Estimate of underlying contracts valid for the whole business. Numerical results show its accuracy in approximating capital requirements for a large range of life insurance contracts.
Economic burden of Parkinson’s disease and research trends: a bibliometric analysis
Authors: Cunha Maura , Almeida Helena , Guimarães Isabel , Ferreira Lara N. 
Published: June 2024

Abstract
Background
Parkinson’s disease (PD) is a neurodegenerative disorder associated with a range of motor and non-motor symptom leading to progressive disability that significantly impacts on health related-quality of life (HRQoL) and imposes a substantial economic burden. The overall trend and impact of research production on the economic burden of PD have not yet been documented. In this study, the objective is to describe, map and analyse the evolution and trend of research on the economic burden in PD. Therefore, the initial research questions were: (1) what are the main research keywords on costs in the field of Parkinson’s disease? and (2) how do an author’s studies on the economic burden and costs of Parkinson’s disease influence scientific production?

Methods
The data used were retrieved from the Web of Science over the past 25 years, from 1997 to 2022. A bibliometric analysis was performed on the basis of the number of articles, citations, published journals, authors, countries scientific production and keywords plus.

Results
A total of 140 articles that met the criteria were collected and analysed, covering 736 authors, 41 journals and 34 countries. The most productive country was the United States of America (80.71%) and, among the journals, the Movement Disorders journal was the one with the largest growth (n = 27). According to the thematic map, the terms “quality of life”, “impact” and “illness” were considered as having a high level of centrality, a moderate density and a high frequency. In addition, the terms “quality-of-life”, “impact” and illness were the most relevant words.

Conclusions
This study provides an overview of global research trends on the economic burden of PD.
Assessing the impact of the 2023 Kahramanmaraş and Hatay earthquakes on cadastre and property data using GPS and GIS
Authors: Ayso Emre , Köz İrem , Doğanalp Serkan , Aslan Mustafa , Tuşat Ekrem , Kahveci Muzaffer , Taşpınar Cahit 
Published: June 2024

AbstractNatural disasters such as earthquakes, storms, floods, landslides, and tsunamis cause significant losses in land and buildings, which are an integral part of human life. This causes inconsistency between the actual situation in the land and official records and brings legal problems with it. In other words, natural disasters negatively affect human life and cause problems in the country’s cadastral system and land ownership and usage. Therefore, after natural disasters, rapid and fair redefinition of cadastral works and land boundaries in the affected areas is an important need of the society and is the basis of trust in the state. In this study, the effects of the 06 February 2023 (Mw = 7.7, Mw = 7.6) Kahramanmaraş and 20 February 2023 (Mw = 6.4) Hatay earthquakes on the cadastral status of the parcels in and around Kırıkhan district of Hatay province were investigated. By modeling the displacements, the deformation sizes of 4044 parcel corner coordinates and 1333 parcel areas were calculated and analyzed. In terms of the protection of property rights in land management, some suggestions were made by presenting concrete findings of coordinate and areal changes.
Bases for Riemann–Roch spaces of linearized function fields with applications to generalized algebraic geometry codes
Authors: Navarro Horacio 
Published: June 2024

AbstractSeveral applications of function fields over finite fields, or equivalently, algebraic curves over finite fields, require computing bases for Riemann–Roch spaces. In this paper, we determine explicit bases for Riemann–Roch spaces of linearized function fields, and we give a lower bound for the minimum distance of generalized algebraic geometry codes. As a consequence, we construct generalized algebraic geometry codes with good parameters.
Conceptualizing understanding in explainable artificial intelligence (XAI): an abilities-based approach
Authors: Speith Timo , Crook Barnaby , Mann Sara , Schomäcker Astrid , Langer Markus 
Published: June 2024

AbstractA central goal of research in explainable artificial intelligence (XAI) is to facilitate human understanding. However, understanding is an elusive concept that is difficult to target. In this paper, we argue that a useful way to conceptualize understanding within the realm of XAI is via certain human abilities. We present four criteria for a useful conceptualization of understanding in XAI and show that these are fulfilled by an abilities-based approach: First, thinking about understanding in terms of specific abilities is motivated by research from numerous disciplines involved in XAI. Second, an abilities-based approach is highly versatile and can capture different forms of understanding important in XAI application contexts. Third, abilities can be operationalized for empirical studies. Fourth, abilities can be used to clarify the link between explainability, understanding, and societal desiderata concerning AI, like fairness and trustworthiness. Conceptualizing understanding as abilities can therefore support interdisciplinary collaboration among XAI researchers, provide practical benefit across diverse XAI application contexts, facilitate the development and evaluation of explainability approaches, and contribute to satisfying the societal desiderata of different stakeholders concerning AI systems.
Discovery of new genomic regions and candidate genes implicated in the natural variation of barley peduncle length and plant height
Authors: Khatir Zenaba , Thabet Samar G. , Alqahtani Mashael Daghash , Schierenbeck Matías , Sehmisch Stefanie , Lantos Edit , Krebes Claudia , Börner Andreas , Alqudah Ahmad M. 
Published: June 2024

Abstract
The cereal plant barley (Hordeum vulgare) has high nutritional content and special characteristics that allow it to withstand adverse weather conditions. The peduncle’s developmental properties under dry (drought and heat) conditions make it an ideal attribute for studying its function in tolerance and adaption processes. Thus, we intend to investigate the natural phenotypic and genetic variation of the peduncle length, as well as the genetic reasons underpinning its growth in dry (drought and heat) environments. Under natural drought and heat, the examined characteristic showed a large range of natural variation, showing its involvement in adaptation to such circumstances. A genome-wide association study (GWAS) was carried out to evaluate the relationship between 127,022 single nucleotide polymorphisms (SNPs) and peduncle length at maturity in 184 barley accessions from throughout the world. The genomic research suggest the possibility of 86 marker-trait associations (p-value: > FDR) in various genomic areas, five of which are physically situated on chromosome 3H. The presence of 23 candidate genes was discovered after predicting candidate genes underlying significant relationships. The RNA-sequencing expression profile of candidate genes revealed that the gene HORVU.MOREX.r2.3HG0216310.1, which was identified as a Polynucleotidyl transferase ribonuclease H-like superfamily protein, had the greatest level of expression, indicating its participation in peduncle development under these conditions. Quantifying the current natural variation in peduncles under dry environmental circumstances and identifying the genomic areas linked with the features will serve as the foundation for future genetic research to better understand its function in stress tolerance.
Trend analysis of environmental radioactivity levels around Kaiga Generating Station, India
Authors: Jain Sanyam , Ajith T. L. , Joshi R. M. , Reji T. K. , James J. P. , Vishnu M. S. , Saradhi I. V. , Kumar A. Vinod 
Published: June 2024

AbstractThe study assessed the radiological impact of the Kaiga Generating Station (KGS) on the surrounding environment and the safety of the nearby population. Over a period of 15 years (2005–2020), the radiological monitoring detected only trace levels of 3H and 137Cs (attributed to fallout) in the surrounding environment. The study utilized the non-parametric Mann–Kendall test to analyze the long-term trends, identifying either decreasing or no trend in the radioactivity levels across various environmental matrices such as air, water, biota, and dietary items. These findings indicate no significant accumulation of radioactivity, confirming the minimal environmental impact of the KGS operations.
Assessing the Link between Maternal Transport Modes and Childhood Mortality in Nigeria
Authors: Addie Oluwaseun , Seun-Addie Kehinde F , Adejoh Samuel Ojima , Olorunlana Adetayo 
Published: June 2024

Abstract
Objectives
The study explored the association between maternal transport modes and childhood mortalities in Nigeria.

Method
Utilizing data and definitions from the 2018 Nigeria Demographic and Health Survey report, the ten-year early mortality rates of the five childhood mortalities and the percentage of live births in the 5 years before the survey, transported by eight identified means of transportation, were statistically correlated for each of Nigeria’s 36 states and the federal capital territory (FCT) in the R environment at a significance level of α < 0.05.

Results
In the spatial distribution of the five childhood mortalities, a notable north-south dichotomy was observed, contrasting with the spatial spread of maternal transport modes. The five childhood mortalities exhibited a significant, moderately positive correlation with transportation by Private Car or Truck, while their associations with Public Transport or Bus and Walking were notably moderate but negative.

Conclusion for Practice
While the use of private cars or trucks should be encouraged as a means of maternal transport, public transport should be better organized to provide efficient services to women who need such services for maternal and child healthcare. Additionally, steps should be taken to reduce travel distances to health facilities to manageable distances for mothers.
What is wrong with exclusivism? Religious exclusivism between epistemic overconfidence and epistemic humility
Authors: Grube Dirk-Martin 
Published: June 2024

AbstractI compare the discussion on exclusivism in religion to the discussion on exclusivism in general. With defenders of religious exclusivism, such as Plantinga, I argue that it is a subset of general exclusivism and is as little blameworthy as the latter is. This explains why defenders of religious exclusivism are right in assuming that the burden of proof is on the shoulders of the critics of exclusivism. Yet, this answer solves only part of the problem. It answers only the first order question of whether it is legitimate to hold exclusivist truth claims in religion. It does not answer the second order question of how, in what spirit, they should be held. I argue that there are contexts in which exclusivist truth claims should be held in a humble fashion, for example contexts in which (cognitive) ambiguity reigns. If they are held in those contexts in an overconfident fashion, they are epistemically and/or morally blameworthy. Since religion is characterized by a measure of (cognitive) ambiguity, exclusivist religious truth claims should be held in a humble fashion. They are thus blameworthy if held in an overconfident fashion. Yet, if held in a modest spirit, there is nothing wrong with religious exclusivism.
Exploring novel dilazep derivatives as hENT1 inhibitors and potentially covalent molecular tools
Authors: Dilweg Majlen A. , Gorostiola González Marina , de Ruiter Martijn D. , Meijboom Nadine J. , van Veldhoven Jacobus P. D. , Liu Rongfang , Jespers Willem , van Westen Gerard J. P. , Heitman Laura H. , IJzerman Adriaan P. , van der Es Daan 
Published: June 2024

AbstractThe human equilibrative nucleoside transporter 1 (SLC29A1, hENT1) is a solute carrier that modulates the passive transport of nucleosides and nucleobases, such as adenosine. This nucleoside regulates various physiological processes, such as vasodilation and -constriction, neurotransmission and immune defense. Marketed drugs such as dilazep and dipyridamole have proven useful in cardiovascular afflictions, but the application of hENT1 inhibitors can be beneficial in a number of other diseases. In this study, 39 derivatives of dilazep’s close analogue ST7092 were designed, synthesized and subsequently assessed using [3H]NBTI displacement assays and molecular docking. Different substitution patterns of the trimethoxy benzoates of ST7092 reduced interactions within the binding pocket, resulting in diminished hENT1 affinity. Conversely, [3H]NBTI displacement by potentially covalent compounds 14b, 14c, and 14d resulted in high affinities (Ki values between 1.1 and 17.5 nM) for the transporter, primarily by the ability of accommodating the inhibitors in various ways in the binding pocket. However, any indication of covalent binding with amino acid residue C439 remained absent, conceivably as a result of decreased nucleophilic residue reactivity. In conclusion, this research introduces novel dilazep derivatives that are active as hENT1 inhibitors, along with the first high affinity dilazep derivatives equipped with an electrophilic warhead. These findings will aid the rational and structure-based development of novel hENT1 inhibitors and pharmacological tools to study hENT1's function, binding mechanisms, and its relevance in (patho)physiological conditions.