bluuebunny/crossref_metadata_2025_split huggingface dataset:
Pathogenic variants inGCSHencoding the moonlighting H-protein cause combined nonketotic hyperglycinemia and lipoate deficiency
Authors: Arribas-Carreira Laura , Dallabona Cristina , Swanson Michael A , Farris Joseph , Østergaard Elsebet , Tsiakas Konstantinos , Hempel Maja , Aquaviva-Bourdain Cecile , Koutsoukos Stefanos , Stence Nicholas V , Magistrati Martina , Spector Elaine B , Kronquist Kathryn , Christensen Mette , Karstensen Helena G , Feichtinger René G , Achleitner Melanie T , Lawrence Merritt II J , Pérez Belén , Ugarte Magdalena , Grünewald Stephanie , Riela Anthony R , Julve Natalia , Arnoux Jean-Baptiste , Haldar Kasturi , Donnini Claudia , Santer René , Lund Allan M , Mayr Johannes A , Rodriguez-Pombo Pilar , Van Hove Johan L K 
Published: October 2022

AbstractMaintaining protein lipoylation is vital for cell metabolism. The H-protein encoded by GCSH has a dual role in protein lipoylation required for bioenergetic enzymes including pyruvate dehydrogenase and 2-ketoglutarate dehydrogenase, and in the one-carbon metabolism through its involvement in glycine cleavage enzyme system, intersecting two vital roles for cell survival. Here, we report six patients with biallelic pathogenic variants in GCSH and a broad clinical spectrum ranging from neonatal fatal glycine encephalopathy to an attenuated phenotype of developmental delay, behavioral problems, limited epilepsy and variable movement problems. The mutational spectrum includes one insertion c.293-2_293–1insT, one deletion c.122_(228 + 1_229–1) del, one duplication of exons 4 and 5, one nonsense variant p.Gln76*and four missense p.His57Arg, p.Pro115Leu and p.Thr148Pro and the previously described p.Met1?. Via functional studies in patient’s fibroblasts, molecular modeling, expression analysis in GCSH knockdown COS7 cells and yeast, and in vitro protein studies, we demonstrate for the first time that most variants identified in our cohort produced a hypomorphic effect on both mitochondrial activities, protein lipoylation and glycine metabolism, causing combined deficiency, whereas some missense variants affect primarily one function only. The clinical features of the patients reflect the impact of the GCSH changes on any of the two functions analyzed. Our analysis illustrates the complex interplay of functional and clinical impact when pathogenic variants affect a multifunctional protein involved in two metabolic pathways and emphasizes the value of the functional assays to select the treatment and investigate new personalized options.
Efficacy of psychological interventions for mental health and pregnancy rates among individuals with infertility: a systematic review and meta-analysis
Authors: Dube Loveness , Bright Katherine , Hayden K Alix , Gordon Jennifer L 
Published: October 2022

Abstract

BACKGROUND
Depression and anxiety are highly prevalent among individuals struggling with infertility. Thus, numerous psychological interventions have been adapted to infertility, with the aim of relieving distress as well as increasing pregnancy rates.

OBJECTIVE AND RATIONALE
This systematic review and meta-analysis aimed to identify all randomized controlled trials (RCTs) evaluating the effect of psychological interventions on infertility-related distress and pregnancy rates among individuals and/or couples with infertility and to analyse their overall effect. It also sought to examine potential treatment moderators, including intervention length, format and therapeutic approach.

SEARCH METHODS
An electronic search of 11 databases, including MEDLINE, EMBASE, PsycINFO and Cochrane Central Register of Controlled Trials, was performed for studies published until January 2022. The inclusion criteria were RCTs conducted on humans and published in English. Psychological outcomes of interest included anxiety, depression, infertility-related distress, wellbeing and marital satisfaction. The Cochrane Risk of Bias tool was used to assess study quality, and the Grading of Recommendations Assessment, Development and Evaluation was used to assess the overall quality of the research evidence.

OUTCOMES
There were 58 RCTs in total, including 54 which included psychological outcomes and 21 which assessed pregnancy rates. Studies originated from all regions of the world, but nearly half of the studies were from the Middle East. Although a beneficial effect on combined psychological outcomes was found (Hedge’s g = 0.82, P &lt; 0.0001), it was moderated by region (P &lt; 0.00001) such that studies from the Middle East exhibited large effects (g = 1.40, P &lt; 0.0001), while the effects were small among studies conducted elsewhere (g = 0.23, P &lt; 0.0001). Statistically adjusting for study region in a meta-regression, neither intervention length, therapeutic approach, therapy format, nor participant gender (P &gt; 0.05) moderated the effect of treatment. A beneficial treatment effect on pregnancy (RR (95% CI) = 1.25 (1.07–1.47), P = 0.005) was not moderated by region, treatment length, approach or format (P &gt; 0.05). Largely due to the lack of high quality RCTs, the quality of the available evidence was rated as low to moderate.

WIDER IMPLICATIONS
This is the first meta-analysis of RCTs testing the effect of psychological interventions on infertility-related distress and pregnancy rates. These findings suggest that in most regions of the world, psychological interventions are associated with small reductions in distress and modest effects on conception, suggesting the need for more effective interventions. These findings must be considered in light of the fact that the majority of the included RCTs were deemed to be at high risk of bias. Rigorously conducted trials are needed.
The Dense Breast Clinic: Initial Experience of a Patient-Centered Breast Imaging Clinic
Authors: Robinson Kristin A , Staack Sasha O , Patel Bhavika K , Lorans Roxanne , Sharpe Richard E , Kling Juliana M , Maimone Santo , Pizzitola Victor J 
Published: October 2022

Abstract

Objective
Establish a radiologist-run consultation clinic to review breast density and supplemental screening exams (SSEs) directly with patients in response to breast density reporting laws.

Methods
Breast radiologists opened and staffed a clinic for formal patient consultations regarding breast density and SSEs. An IRB-approved questionnaire assessed patient knowledge of breast density, SSEs, and encounter satisfaction. Comparative statistical analyses were performed on knowledge-based questions.

Results
From February 2019 to February 2021, 294 reimbursable consultations were performed with 215 patients completing pre- and post-consultation questionnaires (survey response rate, 73%). Median patient age was 58 years (range, 34–86 years) and 9% (19/210) had a personal history of breast cancer. An increase in patient knowledge of breast density and SSEs was observed as follows: breast density categories (9% correct pre-consultation (20/215), 86% correct post-consultation (185/215), P &lt; 0.001), dense breast effects on cancer risk (39% correct pre-consultation (83/215), 84% post-consultation (180/215)), mammogram sensitivity (90% correct pre-consultation (193/215), 94% post-consultation (201/215)), and increased cancer detection with SSEs (82% correct pre-consultation (177/215), 95% post-consultation (205/215)) (P &lt; 0.001). Post-consultation, 96% (200/209) were satisfied with the usefulness of information, 89% (186/209) strongly agreed they had sufficient knowledge of SSEs, and 81% (167/205) agreed they would like future opportunities to meet with a breast radiologist.

Conclusion
A consultation clinic staffed by breast radiologists focused on breast density and supplemental breast cancer screening can provide personalized patient counseling, engage patients in shared decision making, assist referring clinicians, and support high quality patient-centered care.
Structured Reporting: An Intervention to Improve Procedure Documentation in Breast Imaging
Authors: Floore Tyann L , Kuzmiak Cherie M , Lee Sheila S , Rivers Lana M , Eltilib Mohamed Taj , Benefield Thad , Jordan Sheryl G 
Published: October 2022

Abstract

Objective
To evaluate intervention of structured reporting after wrong-site surgery that occurred after localization of an incorrect breast biopsy marker.

Methods
An IRB-exempt retrospective database review identified patients who underwent core-needle biopsy of a breast lesion from July 1, 2014 to July 1, 2020. They were divided into three cohorts: 2014 pre-intervention/pre-sentinel, 2017 pre-intervention/post-sentinel, and 2019 post-intervention of structured reports. One hundred reports per cohort were reviewed for documentation of marker and shape. Statistical analysis was performed with mixed-effects logistic regression model and chi-squared test with P &lt; 0.05 considered significant.

Results
The 2014 cohort consisted of 100 patients with 122 biopsies. Twenty-seven (22.1%) were excluded: 5/122 (4.1%) lesion resolution, 22/122 (18.0%) no documentation whether marker was/was not placed. Of the 95 biopsies remaining, 4/95 (4.2%) had no marker placed, 62/95 (65.3%) reported marker only, and 29/95 (30.5%) reported marker and shape. In the 2017 cohort, 100 patients underwent 108 biopsies. Four/108 (3.7%) were excluded: lesion resolution. Of the 104, 10/104 (9.6%) had no marker placed, 22/104 (21.2%) reported marker only, and 72/104 (69.2%) reported marker and shape. In the 2019 cohort, 100 patients underwent 114 biopsies. Two/114 (1.8%) were excluded: lesion resolution. Of the 112, 3/112 (2.7%) had no marker placed, 3/112 (2.7%) reported marker only, and 106/112 (94.6%) reported marker and shape. The predicted probability of both marker placement and shape described were statistically greater for 2019 compared to the other cohorts (P &lt; 0.05).

Conclusion
Using structured reports facilitates and improves documentation of breast biopsy markers and may potentially reduce the risk of medical errors.
DNA Barcoding of Culicoides Latreille (Diptera: Ceratopogonidae) From Thailand Reveals Taxonomic Inconsistencies and Novel Diversity Among Reported Sequences
Authors: Gopurenko David , Bellis Glenn , Pengsakul Theerakamol , Siriyasatien Padet , Thepparat Arunrat 
Published: October 2022

Abstract
Recent focus on Culicoides species diversity in Thailand was prompted by a need to identify vectors responsible for the transmission of African Horse Sickness in that country. To assist rapid genetic identification of species, we sampled mitochondrial cytochrome c oxidase subunit I (COI) DNA barcodes (N = 78) from 40 species of Culicoides biting midge from Thailand, including 17 species for which DNA barcodes were previously unavailable. The DNA barcodes were assigned to 39 Barcode Identification Numbers (BINs) representing terminal genetic clusters at the Barcode of Life Data systems (BOLD). BINs assisted with comparisons to published conspecific DNA barcodes and allowed partial barcodes obtained from seven specimens to be associated with BINs by their similarity. Some taxonomic issues were revealed and attributed to the possible misidentification of earlier reported specimens as well as a potential synonymy of C. elbeli Wirth & Hubert and C. menglaensis Chu & Liu. Comparison with published BINs also revealed genetic evidence of divergent population processes and or potentially cryptic species in 16 described taxa, flagged by their high levels of COI sequence difference among conspecifics. We recommend the BOLD BIN system to researchers preparing DNA barcodes of vouchered species for public release. This will alert them to taxonomic incongruencies between their records and publicly released DNA barcodes, and also flag genetically deep and potentially novel diversity in described species.
Comparing Satellite and Ground-Based Measurements of Environmental Suitability for Vector Mosquitoes in an Urban Landscape
Authors: McMahon Andrea , França Caio M B , Wimberly Michael C 
Published: October 2022

Abstract
Exposure to mosquito-borne diseases is influenced by landscape patterns and microclimates associated with land cover. These influences can be particularly strong in heterogeneous urban landscapes where human populations are concentrated. We investigated how land cover and climate influenced abundances of Ae. albopictus (Skuse) (Diptera: Culicidae) and Cx. quinquefasciatus (Say) (Diptera: Culicidae) in Norman, Oklahoma (United States). From June–October 2019 and May–October 2020 we sampled mosquitoes along an urban-rural gradient using CO2 baited BG Sentinel traps. Microclimate sensors at these sites measured temperature and humidity. We mapped environmental variables using satellite images from Landsat, Sentinel-2, and VIIRS, and the CHIRPS rainfall dataset. We also obtained meteorological data from the closest weather station. We compared statistical models of mosquito abundance based on microclimate, satellite, weather station, and land cover data. Mosquitoes were more abundant on trap days with higher temperature and relative humidity. Rainfall 2 wk prior to the trap day negatively affected mosquito abundances. Impervious surface cover was positively associated with Cx. quinquefasciatus and tree cover was negatively associated with Ae. albopictus. Among the data sources, models based on satellite variables and land cover data had the best fits for Ae. albopictus (R2 = 0.7) and Cx. quinquefasciatus (R2 = 0.51). Models based on weather station or microclimate data had weaker fits (R2 between 0.09 and 0.17) but were improved by adding land cover variables (R2 between 0.44 and 0.61). These results demonstrate the potential for using satellite remote sensing for mosquito habitat analyses in urban areas.
Theorizing Multilevel Closure Structures Guiding Forum Participation
Authors: Fried Harrison , Hamilton Matthew , Berardo Ramiro 
Published: October 2022

Abstract
Understanding how stakeholders choose to participate in different policy forums is central to research on complex, polycentric governance systems. In this article, we draw upon the Ecology of Games Theory (EGT) to develop theoretical expectations about how four incentive structures may guide how actors navigate the world of policy forums. We test these expectations using unique data on a three-mode network of actors, forums, and issues related to climate change adaption in the state of Ohio, in the US Midwest. Results of an exponential random graph model suggest that multilevel closure structures, which are a function of transaction costs and direct benefits, guide actors’ forum participation in ways that can either reinforce sub-optimal, ineffective governance arrangements, or conversely, encourage opportunities for innovation, increase diversity in representation, and facilitate policy learning. From a methodological standpoint, our research highlights the benefits of examining complex governance systems through the more precise approach allowed by three-mode network analysis, which has not been frequently used in research on polycentric governance systems up to this point.
Ginkgo biloba extracts (GBE) protect human RPE cells from t-BHP-induced oxidative stress and necrosis by activating the Nrf2-mediated antioxidant defence
Authors: Li Yue , Zhu Xue , Wang Ke , Zhu Ling , Murray Michael , Zhou Fanfan 
Published: October 2022

Abstract

Objectives
Age-related macular degeneration (AMD) is a prevalent ocular disease. Dry AMD accounts for most cases of blindness associated with AMD but there are no treatments. Oxidative stress-induced damage to retinal pigment epithelial (RPE) cells is a major contributor to the pathogenesis of dry AMD. This study investigated the protective actions of Ginkgo biloba extracts (GBE) in human RPE cells subjected to tert-butyl hydroperoxide (t-BHP)-mediated oxidative stress.

Methods
The human ARPE-19 cells were pre-treated with or without GBE before the exposure to t-BHP. Cell viability, cell death profile and lipid peroxidation were assessed. The findings were verified using human primary RPE cultures.

Key findings
GBE pre-treatment prevented the increase in lipid peroxidation and necrosis/ferroptosis, and the concurrent viability decrease in RPE cells exposed to t-BHP. It enabled the pronounced activation of Nrf2 and its downstream genes. We found that ERK1/2 phosphorylation was increased to a similar extent by t-BHP and GBE.

Conclusion
This study revealed that GBE pre-treatment attenuates pro-oxidant stress and protects human RPE cells from oxidative injury by modulating ERK1/2-Nrf2 axis. These findings suggest that GBE has the potential to be developed as a agent that may be valuable in decreasing AMD progression.
Cosmic evolution of grain size distribution in galaxies using the ν2GC semi-analytical model
Authors: Makiya Ryu , Hirashita Hiroyuki 
Published: October 2022

ABSTRACT
We investigate the cosmological evolution of interstellar dust with a semi-analytical galaxy formation model (ν2GC), focusing on the evolution of grain size distribution. The model predicts the statistical properties of dust mass and grain size distribution in galaxies across cosmic history. We confirm that the model reproduces the relation between dust-to-gas ratio and metallicity in the local Universe, and that the grain size distributions of the Milky Way (MW)-like sample become similar to the so-called Mathis, Rumpl & Nordsieck (MRN) distribution that reproduces the observed MW extinction curve. Our model, however, tends to overpredict the dust mass function at the massive end at redshift z ≲ 0.8 while it reproduces the abundance of dusty galaxies at higher redshifts. We also examine the correlation between grain size distribution and galaxy properties (metallicity, specific star formation rate, gas fraction, and stellar mass), and observe a clear trend of large-grain-dominated, small-grain-dominated, and MRN-like grain size distributions from unevolved to evolved stages. As a consequence, the extinction curve shapes are flat, steep, and intermediate (MW-like) from the unevolved to evolved phases. At a fixed metallicity, the grain size distribution tends to have larger fractions of small grains at lower redshift; accordingly, the extinction curve tends to be steeper at lower redshift. We also predict that supersolar-metallicity objects at high redshift have flat extinction curves with weak 2175 Å bump strength.
Influence of tidal dissipation on outcomes of binary–single encounters between stars and black holes in stellar clusters
Authors: Hellström Lucas , Askar Abbas , Trani Alessandro A , Giersz Mirek , Church Ross P , Samsing Johan 
Published: October 2022

ABSTRACT
In the cores of dense stellar clusters, close gravitational encounters between binary and single stars can frequently occur. Using the tsunami code, we computed the outcome of a large number of binary–single interactions involving two black holes (BHs) and a star to check how the inclusion of orbital energy losses due to tidal dissipation can change the outcome of these chaotic interactions. Each interaction was first simulated without any dissipative processes and then we systematically added orbital energy losses due to gravitational wave emission [using post-Newtonian (PN) corrections] and dynamical tides and recomputed the interactions. We find that the inclusion of tides increases the number of BH–star mergers by up to 75 per cent; however, it does not affect the number of BH–BH mergers. These results highlight the importance of including orbital energy dissipation due to dynamical tides during few-body encounters and evolution of close binary systems within stellar cluster simulations. Consistent with previous studies, we find that the inclusion of PN terms increases the number of BH–BH mergers during binary–single encounters. However, BH–star mergers are largely unaffected by the inclusion of these terms.
The first OPEA model for solar X-ray flares
Authors: Yoldaş E , Dal H A 
Published: October 2022

ABSTRACT
In this study, the flares detected in the solar hard X-ray (λ0.5–4.0 Å) data accumulated by the Geostationary Operational Environmental Satellite (GOES) from 2001 March–May were analysed. For the first time in the literature, the One Phase Exponential Association (OPEA) model was derived for the Sun and, for the first time, over X-ray data. 1014 flares were detected in the analysis. Contrary to expectations, it was seen that the flares can be modelled with three different OPEA models, not one model. The Plateau value was found to be 5.053 ± 0.110 s with the half-time of 2316.12 s for the flares during 2001 March, while it was 5.676 ± 0.138 s with the half-time of 3967.59 s for 2001 April and 5.338 ± 0.080 s with the half-time of 2755.66 s for 2001 May. The results indicate that the models exhibit a fluctuation in their form time by time. This means that there is a phenomenon that changes the energy of flares obtained in three consecutive months. We also demonstrate that the linear parts of the flare cumulative frequency distributions obtained in these data interestingly show a separation.
Monitoring drug–target interactions through target engagement-mediated amplification on arrays and in situ
Authors: Al-Amin Rasel A , Johansson Lars , Abdurakhmanov Eldar , Landegren Nils , Löf Liza , Arngården Linda , Blokzijl Andries , Svensson Richard , Hammond Maria , Lönn Peter , Haybaeck Johannes , Kamali-Moghaddam Masood , Jensen Annika Jenmalm , Danielson U Helena , Artursson Per , Lundbäck Thomas , Landegren Ulf 
Published: October 2022

Abstract
Drugs are designed to bind their target proteins in physiologically relevant tissues and organs to modulate biological functions and elicit desirable clinical outcomes. Information about target engagement at cellular and subcellular resolution is therefore critical for guiding compound optimization in drug discovery, and for probing resistance mechanisms to targeted therapies in clinical samples. We describe a target engagement-mediated amplification (TEMA) technology, where oligonucleotide-conjugated drugs are used to visualize and measure target engagement in situ, amplified via rolling-circle replication of circularized oligonucleotide probes. We illustrate the TEMA technique using dasatinib and gefitinib, two kinase inhibitors with distinct selectivity profiles. In vitro binding by the dasatinib probe to arrays of displayed proteins accurately reproduced known selectivity profiles, while their differential binding to fixed adherent cells agreed with expectations from expression profiles of the cells. We also introduce a proximity ligation variant of TEMA to selectively investigate binding to specific target proteins of interest. This form of the assay serves to improve resolution of binding to on- and off-target proteins. In conclusion, TEMA has the potential to aid in drug development and clinical routine by conferring valuable insights in drug–target interactions at spatial resolution in protein arrays, cells and in tissues.