bluuebunny/crossref_metadata_2025_split huggingface dataset:
Interventions to support decision making in people considering germline genetic testing for BRCA 1/2 pathogenic and likely pathogenic variants: A scoping review
Authors: Pozzar Rachel A. , Seven Memnun 
Published: June 2023

AbstractPathogenic and likely pathogenic variants in BRCA1 and BRCA2 (BRCA1/2) are medically actionable and may inform hereditary breast and ovarian cancer (HBOC) treatment and prevention. However, rates of germline genetic testing (GT) in people with and without cancer are suboptimal. Individuals' knowledge, attitudes, and beliefs may influence GT decisions. While genetic counseling (GC) provides decision support, the supply of genetic counselors is insufficient to meet demand. Accordingly, there is a need to explore the evidence on interventions that aim to support BRCA1/2 testing decisions. We conducted a scoping review of PubMed, CINAHL, Web of Science, and PsycINFO using search terms related to HBOC, GT, and decision making. First, we screened records to identify peer‐reviewed reports that described interventions to support BRCA1/2 testing decisions. Next, we reviewed full‐text reports and excluded studies that lacked statistical comparisons or enrolled previously tested individuals. Finally, we extracted study characteristics and findings into a table. All records and reports were reviewed independently by two authors; decisions were tracked in Rayyan, and discrepancies were resolved through discussion. Of 2116 unique citations, 25 met the eligibility criteria. Articles were published between 1997 and 2021 and described randomized trials and nonrandomized, quasi‐experimental studies. Most studies tested technology‐based (12/25, 48%) or written (9/25, 36%) interventions. Nearly half (12/25, 48%) of interventions were designed to complement traditional GC. Of the interventions compared to GC, 75% (6/8) increased or had a noninferior effect on knowledge, and 67% (4/6) decreased or had a noninferior effect on decisional conflict. Intervention effects on GT uptake were mixed, which may reflect evolving eligibility criteria for GT. Our findings suggest novel interventions may promote informed GT decision making, but many were developed to complement traditional GC. Trials that assess the effects of decision support interventions in diverse samples and evaluate implementation strategies for efficacious interventions are warranted.
Gonadal morphogenesis in the South American toad Rhinella Arenarum (Anura, Bufonidae) unveils an extremely delayed rate of sex differentiation
Authors: Piazza Yanina G. , Czuchlej Silvia C. , Gómez María L. , Meijide Fernando J. 
Published: June 2023

AbstractAmong anurans, Bufonids are recognized for their retarded sex differentiation. However, few studies have addressed gonadal morphogenesis in this family. Here, we analyzed the early gonadogenesis in laboratory‐reared Rhinella arenarum. Few germ cells were identified in the genital ridge at Gosner stage 26. At metamorphosis, somatic cells and germ cells were observed in the outer region of the undifferentiated gonad, whereas the central region was occupied by stromal tissue. A cortico‐medullary organization was first recognized on Day 7 postmetamorphosis. The cortex was composed of germ cells and encompassing epithelial cells, whereas the medulla contained cells presumptively derived from the coelomic epithelium. Medullary somatic cells formed metameric knots along the length of the undifferentiated gonad. Consequently, a series of 12–14 gonomeres became recognizable externally. The first sign of ovarian differentiation was observed on Day 15 postmetamorphosis, when a cavity was formed within each gonomere. In contrast, testes were recognized by a uniform distribution of germ cells and intermingled somatic cells, as the division into cortex and medulla was lost. By Day 50 postmetamorphosis, the gonadal metameric organization was still apparent both in the ovaries and testes. Follicles containing diplotene oocytes were observed within the ovary. In the testis, an incipient lobular architecture was recognized without initiation of meiosis within the seminiferous cords. These observations reveal an extremely delayed gonadal development in R. arenarum, not reported previously for other anuran species. In addition, the late differentiation of the gonads contrasted with the early appearance of follicles in the Bidder's organ. Lastly, we observed that delayed metamorphs exhibited an undifferentiated gonad, demonstrating that gonadogenesis in this species is more dependent on somatic development than on age.
Deciphering the causal relationship between blood pressure and regional white matter integrity: A two‐sample Mendelian randomization study
Authors: Ye Zhenyao , Mo Chen , Liu Song , Gao Si , Feng Li , Zhao Boao , Canida Travis , Wu Yu‐Chia , Hatch Kathryn S. , Ma Yizhou , Mitchell Braxton D. , Hong L. Elliot , Kochunov Peter , Chen Chixiang , Zhao Bingxin , Chen Shuo , Ma Tianzhou 
Published: June 2023

AbstractElevated arterial blood pressure (BP) is a common risk factor for cerebrovascular and cardiovascular diseases, but no causal relationship has been established between BP and cerebral white matter (WM) integrity. In this study, we performed a two‐sample Mendelian randomization (MR) analysis with individual‐level data by defining two nonoverlapping sets of European ancestry individuals (genetics–exposure set: N = 203,111; mean age = 56.71 years, genetics–outcome set: N = 16,156; mean age = 54.61 years) from UK Biobank to evaluate the causal effects of BP on regional WM integrity, measured by fractional anisotropy of diffusion tensor imaging. Two BP traits: systolic and diastolic blood pressure were used as exposures. Genetic variant was carefully selected as instrumental variable (IV) under the MR analysis assumptions. We existing large‐scale genome‐wide association study summary data for validation. The main method used was a generalized version of inverse‐variance weight method while other MR methods were also applied for consistent findings. Two additional MR analyses were performed to exclude the possibility of reverse causality. We found significantly negative causal effects (FDR‐adjusted p < .05; every 10 mmHg increase in BP leads to a decrease in FA value by .4% ~ 2%) of BP traits on a union set of 17 WM tracts, including brain regions related to cognitive function and memory. Our study extended the previous findings of association to causation for regional WM integrity, providing insights into the pathological processes of elevated BP that might chronically alter the brain microstructure in different regions.
Effects of soil conservation on the spatial heterogeneity of vegetation carbon sequestration in the Yellow River Basin, China
Authors: Cen Yunfeng , Gao Zhaoliang , Sun Guanfang , Lou Yongcai , Zhang Shuai , Li Yonghong , Wu Tong 
Published: June 2023

AbstractAn improved understanding of the potential controls on vegetation carbon sequestration (VCS) is essential for the prediction of VCS in response to global change. Ecosystem restoration can provide remarkable contributions to VCS. However, attention to the impact of soil conservation (SC) on VCS is lacking. Therefore, the Yellow River Basin, a typical area of soil erosion in the world, was chosen as the study area. The VCS and SC trends from 2000 to 2020 were analyzed and the potential response of VCS to SC was explored by adopting correlation analysis, elastic coefficient method, geographically weighted regression model, and geographical detector model. The influence of SC drivers on the spatial heterogeneity of VCS was also revealed. Results showed the following: (1) VCS and SC had a significant upward trend, especially in the eastern monsoonal ecoregion. (2) The area with a significant positive correlation between VCS and SC accounted for 31.74% of the total, mainly concentrated in the key areas of SC, wherein a 100% increase in SC would lead to a 25%–100% increase in VCS. (3) Among the SC drivers, vegetation cover and management (C) factor and rainfall erosion force (R) factor mainly influenced spatial heterogeneity in VCS, and their interaction considerably enhances this effect. Therefore, the interaction between precipitation and vegetation should be considered when evaluating the impact of water erosion management on VCS. The results of the study have important implications for the enhancement of VCS capacity of degraded land in the ecological restoration process.
P inputs determine denitrifier abundance explaining dissolved nitrous oxide in reservoirs
Authors: León‐Palmero Elizabeth , Morales‐Baquero Rafael , Reche Isabel 
Published: June 2023

AbstractReservoirs are important sites for nitrogen processing, especially those located in agricultural and urban watersheds. Nitrogen inputs promote N2O production and emission, but the microbial pathways controlling N2O have been seldom studied in reservoir water columns. We determined N2O concentration in the water column of 12 reservoirs during the summer stratification and winter mixing. We explored the potential microbial sources and sinks of N2O by quantifying key genes involved in ammonia oxidation (bacterial and archaeal amoA) and denitrification (nirS and nosZ). Dissolved N2O varied up to three orders of magnitude (4.7–2441.2 nmol L−1) across systems, from undersaturated to supersaturated values (37%–24,174%) depending on reservoirs and depths. N2O concentration depended on nitrogen and oxygen availabilities, with the lowest and highest N2O values at suboxic conditions. Ammonia‐oxidizing archaea dominated over ammonia‐oxidizing bacteria but were not related to the dissolved N2O. In contrast, the abundance of the nirS gene was significantly related to N2O concentration, and three orders of magnitude higher than amoA abundance. Denitrifying bacteria appeared consistently in the water column of all reservoirs. The nirS and nosZ genes appeared in oxic and suboxic waters, but they were more abundant in suboxic waters. The nitrate concentration, and nirS and nosZ relative abundances explained the dissolved N2O. Besides, nirS abundance was related positively with total phosphorus and cumulative chlorophyll a, a proxy for fresh organic matter. Therefore, P inputs, not just N inputs, promoted N2O production by denitrification in the water column of reservoirs.
Psoriatic Arthritis Quality of Life questionnaire: Translation, cultural adaptation and validation into Arabic language
Authors: Tekaya Rawdha , Hajji Haifa , Rouached Leila , Bouden Selma , Jones Meriem , Hamdi Wafa , Sakly Nabil , Metoui Leila , Ben Tekaya Aicha , Mahmoud Ines , Saidane Olfa , Abdelmoula Leila 
Published: June 2023

AbstractBackgroundPsoriatic arthritis (PsA) is a multifaceted inflammatory disease that has a strong negative impact on the quality of life (QoL) of patients. The Psoriatic Arthritis Quality of Life (PsAQoL) questionnaire was the first disease‐specific patient‐derived instrument developed to measure the QoL in patients with PsA. Our objective was to translate the PsAQol into Arabic language and evaluate its reliability and validity in patients with PsA.MethodsThis was a cross‐sectional study including patients with PsA. A clinical and biological assessment of the patients was performed at inclusion. The translation of the original PsAQoL into Arabic was performed by a professional bilingual and lay panel. Eight patients were interviewed to assess face and content validity. A separate sample of PsA patients (n = 30) were invited to participate in a test‐retest postal study in order to investigate reproducibility and construct validity. One week separated the two administrations. The Arabic version of Health Assessment Questionnaire (HAQ) was used as a comparator instrument for convergent validity.ResultsFace and content validity were satisfactory. The Arabic version of the PsAQoL was found to be relevant, understandable and easy to complete in only a few minutes. One item was excluded (item 16). It had no correlation with either the other 19 items or the total score of PsAQol. The Arabic PsAQol had excellent internal consistency (Cronbach's a = 0.926), and test‐retest reliability (r = 0.982). There was a positive correlation between the total score of the PsAQoL and the Arabic version of HAQ (Spearman's r = 0.838, p < 10−3). Exploratory factor analysis had extracted two factors explaining 55% of the total variance.ConclusionNineteen items were selected to compose the Arabic version of PsAQoL, which was found to be relevant and understandable and has excellent reliability and construct validity. The new measure will be a valuable new tool for use in routine care for patients' assessment.
Synthesis of larval lamprey responses to dewatering: State of the science, critical uncertainties, and management implications
Authors: Liedtke Theresa L. , Harris Julianne E. , Blanchard Monica R. , Skalicky Joseph J. , Grote Ann B. 
Published: June 2023

Abstract

Objective
Dewatering of fine sediments in rivers and streams can kill many thousands of larval lampreys (order Petromyzontiformes) that are burrowed in these habitats. The larval life stage for lampreys lasts 3–10 years, and because larvae often aggregate in large numbers, negative impacts from dewatering could potentially deplete local populations and affect multiple year-classes. Larval lampreys have not traditionally been considered during instream projects, but recent efforts to increase awareness of lamprey habitats have resulted in guidance on dewatering approaches to limit impacts to lampreys. Salvage efforts to rescue and relocate lampreys aim to mitigate losses, but a lack of understanding of lamprey responses limits the optimization of dewatering and salvage procedures.

Methods
We summarize the state of the science for nine factors that influence larval lamprey (Entosphenus and Lampetra spp.) responses to dewatering, including burrowing depth, the prevalence and timing of emergence, movements, survival, shoreline slope, dewatering rate, light, and lamprey size.

Result
Research suggests that (1) shoreline slope influences movement capability, (2) hot and sunny conditions increase the risk of mortality, (3) salvage activities cause minimal direct mortality, and (4) smaller larvae are especially vulnerable to negative impacts from dewatering because they are more likely to emerge and are less capable of movement. Critical uncertainties associated with dewatering include cues that drive emergence, the influence of sediment composition and stratigraphy, vertical distribution of larvae in natural settings, use of the hyporheic zone, the scale of predation losses, and the effectiveness and impacts of salvage activities.

Conclusion
Balancing investments in salvage operations and lamprey exclusion efforts (e.g., screening) and developing field survey approaches to evaluate lamprey use of the hyporheic zone are identified management implications and research needs. Addressing the critical uncertainties discussed here and providing updated, science-based guidance on dewatering and salvage practices are suggested management actions to support lamprey conservation.
Why children differ in classroom engagement: Insights from a prospective longitudinal cohort of elementary school students
Authors: Cinar Eda , Chaput‐Langlois Sophie , Fitzpatrick Caroline , Garon‐Carrier Gabrielle 
Published: June 2023

AbstractThis study investigates how individual‐level factors contribute to classroom engagement variations of boys and girls across the elementary school years. Classroom engagement was assessed four times between the ages of 7 and 12 years in a large, representative population‐based sample (N = 877) using latent growth modeling. Predictors included the sex of the child, the family income, and the mother's educational attainment when the child was 5 months old, along with the child's early receptive vocabulary, numeracy, motor and attentional skills, motivation to learn, and internalizing and externalizing behaviors measured at age 6 years. On average, classroom engagement progressively improved over time. Child vocabulary skills, attention, intrinsic motivation, and externalizing behaviors predicted initial levels of classroom engagement. Child classroom engagement also showed slower progression over time when receptive vocabulary and attentional skills were high. This trend was slightly different when the analyses were conducted separately for boys and girls. Girls with higher attentional skills and fewer externalizing behaviors at age 6 showed slower improvement in classroom engagement throughout elementary school, while boys did not significantly improve in their classroom engagement. Overall, these results suggest that several individual‐level factors contribute to classroom engagement. Children with lower levels of receptive vocabulary, attentional skills, and motivation to learn, and those displaying externalizing behavior may benefit from additional help to boost their classroom engagement.
Modeling tumor size dynamics based on real‐world electronic health records and image data in advanced melanoma patients receiving immunotherapy
Authors: Courlet Perrine , Abler Daniel , Guidi Monia , Girard Pascal , Amato Federico , Vietti Violi Naik , Dietz Matthieu , Guignard Nicolas , Wicky Alexandre , Latifyan Sofiya , De Micheli Rita , Jreige Mario , Dromain Clarisse , Csajka Chantal , Prior John O. , Venkatakrishnan Karthik , Michielin Olivier , Cuendet Michel A. , Terranova Nadia 
Published: June 2023

AbstractThe development of immune checkpoint inhibitors (ICIs) has revolutionized cancer therapy but only a fraction of patients benefits from this therapy. Model‐informed drug development can be used to assess prognostic and predictive clinical factors or biomarkers associated with treatment response. Most pharmacometric models have thus far been developed using data from randomized clinical trials, and further studies are needed to translate their findings into the real‐world setting. We developed a tumor growth inhibition model based on real‐world clinical and imaging data in a population of 91 advanced melanoma patients receiving ICIs (i.e., ipilimumab, nivolumab, and pembrolizumab). Drug effect was modeled as an ON/OFF treatment effect, with a tumor killing rate constant identical for the three drugs. Significant and clinically relevant covariate effects of albumin, neutrophil to lymphocyte ratio, and Eastern Cooperative Oncology Group (ECOG) performance status were identified on the baseline tumor volume parameter, as well as NRAS mutation on tumor growth rate constant using standard pharmacometric approaches. In a population subgroup (n = 38), we had the opportunity to conduct an exploratory analysis of image‐based covariates (i.e., radiomics features), by combining machine learning and conventional pharmacometric covariate selection approaches. Overall, we demonstrated an innovative pipeline for longitudinal analyses of clinical and imaging RWD with a high‐dimensional covariate selection method that enabled the identification of factors associated with tumor dynamics. This study also provides a proof of concept for using radiomics features as model covariates.
Cordycepin: A review of strategies to improve the bioavailability and efficacy
Authors: Chen Min , Luo Jiahao , Jiang Wenming , Chen Lijing , Miao Longxing , Han Chunchao 
Published: June 2023

AbstractCordycepin is a bioactive compound extracted from Cordyceps militaris. As a natural antibiotic, cordycepin has a wide variety of pharmacological effects. Unfortunately, this highly effective natural antibiotic is proved to undergo rapid deamination by adenosine deaminase (ADA) in vivo and, as a consequence, its half‐life is shortened and bioavailability is decreased. Therefore, it is of critical importance to work out ways to slow down the deamination so as to increase its bioavailability and efficacy. This study reviews recent researches on a series of aspects of cordycepin such as the bioactive molecule's pharmacological action, metabolism and transformation as well as the underlying mechanism, pharmacokinetics and, particularly, the methods for reducing the degradation to improve the bioavailability and efficacy. It is drawn that there are three methods that can be applied to improve the bioavailability and efficacy: to co‐administrate an ADA inhibitor and cordycepin, to develop more effective derivatives via structural modification, and to apply new drug delivery systems. The new knowledge can help optimize the application of the highly potent natural antibiotic‐cordycepin and develop novel therapeutic strategies.
Photon Statistics Modal Reconstruction by Detected and Undetected Light
Authors: Knoll Laura T. , Petrini Giulia , Piacentini Fabrizio , Traina Paolo , Polyakov Sergey V. , Moreva Ekaterina , Degiovanni Ivo Pietro , Genovese Marco 
Published: June 2023

AbstractA novel technique is introduced for the reconstruction of multimode optical fields, based on simultaneously exploiting both the generalized Glauber's Kth‐order correlation function and a recently proposed anti‐correlation function (dubbed ) which is resilient to Poissonian noise. It is experimentally demonstrated that this method yields mode reconstructions with higher fidelity with respect to those obtained with reconstruction methods based only on 's, even requiring less “a priori” information. The reliability and versatility of this technique make it suitable for a widespread use in real applications of optical quantum measurement, from quantum information to quantum metrology, especially when one needs to characterize ensembles of single‐photon emitters in the presence of background noise (due, for example, to residual excitation laser, stray light or unwanted fluorescence).
Dielectric Environment Sensitivity of Carbon Centers in Hexagonal Boron Nitride
Authors: Badrtdinov Danis I. , Rodriguez‐Fernandez Carlos , Grzeszczyk Magdalena , Qiu Zhizhan , Vaklinova Kristina , Huang Pengru , Hampel Alexander , Watanabe Kenji , Taniguchi Takashi , Jiong Lu , Potemski Marek , Dreyer Cyrus E. , Koperski Maciej , Rösner Malte 
Published: June 2023

AbstractA key advantage of utilizing van‐der‐Waals (vdW) materials as defect‐hosting platforms for quantum applications is the controllable proximity of the defect to the surface or the substrate allowing for improved light extraction, enhanced coupling with photonic elements, or more sensitive metrology. However, this aspect results in a significant challenge for defect identification and characterization, as the defect's properties depend on the the atomic environment. This study explores how the environment can influence the properties of carbon impurity centers in hexagonal boron nitride (hBN). It compares the optical and electronic properties of such defects between bulk‐like and few‐layer films, showing alteration of the zero‐phonon line energies and their phonon sidebands, and enhancements of inhomogeneous broadenings. To disentangle the mechanisms responsible for these changes, including the atomic structure, electronic wavefunctions, and dielectric screening, it combines ab initio calculations with a quantum‐embedding approach. By studying various carbon‐based defects embedded in monolayer and bulk hBN, it demonstrates that the dominant effect of the change in the environment is the screening of density–density Coulomb interactions between the defect orbitals. The comparative analysis of experimental and theoretical findings paves the way for improved identification of defects in low‐dimensional materials and the development of atomic scale sensors for dielectric environments.