bluuebunny/crossref_metadata_2025_split huggingface dataset:
Identification of a founder variant AAGAB c.370C>T, p.Arg124Ter in patients with punctate palmoplantar keratoderma in Southern Denmark
Authors: Gram Stine Bjørn , Jørgensen Anne Sofie Fredberg , Bygum Anette , Brusgaard Klaus , Ousager Lilian Bomme 
Published: February 2024

AbstractPalmoplantar keratoderma (PPK) is a heterogeneous group of rare skin diseases characterized by hyperkeratosis on the palms or soles. The subtype isolated punctate PPK is caused by heterozygous variants in AAGAB. We investigated if the variant AAGAB c.370C>T, p.Arg124Ter in patients with punctate PPK in the Region of Southern Denmark represented a founder variant and estimated the age to the most recent common ancestor. We performed haplotype analysis on samples from 20 patients diagnosed with punctate PPK and the AAGAB c.370C>T, p.Arg124Ter variant. Using the Gamma Method, we calculated the years to the most recent common ancestor. We also explored the presence of the variant in other populations through literature and databases (HGMD, ClinVar, and gnomAD). Our analysis revealed a shared haplotype of 3.0 Mb, suggesting shared ancestry. The ancestral haplogroup was estimated to an age of 12.1 generations (CI: 4.9–20.3) equivalent to approximately 339 years (CI: 137–568). This study confirms that the frequently observed variant AAGAB c.370C>T, p.Arg124Ter in punctate PPK among patients in the Region of Southern Denmark is caused by a founder variant. We recommend testing for the variant as initial screening in our region and potentially for all Danish patients presenting with punctate PPK.
Defining success in adult obesity management: A systematic review and framework synthesis of clinical practice guidelines
Authors: Juul‐Hindsgaul Nicole , Alalwani Zahra , Boylan Anne‐Marie , Hartmann‐Boyce Jamie , Nunan David 
Published: February 2024

SummaryObesity is a chronic and complex disease affecting millions of people worldwide. Currently, there is no standard definition of success for the management of obesity. We set out to complete a synthesis of clinical practice guidelines for obesity management for adult populations, aiming to provide both a quantitative descriptive and qualitative analysis of definitions of success in clinical practice guidelines. An electronic search retrieved 4477 references. Sixteen clinical practice guidelines were included after screening and full‐text review. We coded definitions of success 147 times across the included guidelines. No standard or explicit definition of success was identified in the guidelines but rather success was implicitly defined. We developed three themes describing how success was defined in the clinical practice guidelines: Knowledge‐based decision making; management of expectations; and the perception of control. The review reinforced that success is an inherently subjective and complex concept. Defining success is limited by existing studies that focus on weight loss and would benefit from additional research on different outcomes. Equally, the relationship between people living with obesity and their clinicians should be further explored to understand how defining success is controlled, discussed and framed in a clinical setting.
Spontaneous Eye Blinks Map the Probability of Perceptual Reinterpretation During Visual and Auditory Ambiguity
Authors: Murali Supriya , Händel Barbara 
Published: February 2024

AbstractSpontaneous eye blinks are modulated around perceptual events. Our previous study, using a visual ambiguous stimulus, indicated that blink probability decreases before a reported perceptual switch. In the current study, we tested our hypothesis that an absence of blinks marks a time in which perceptual switches are facilitated in‐ and outside the visual domain. In three experiments, presenting either a visual motion quartet in light or darkness or a bistable auditory streaming stimulus, we found a co‐occurrence of blink rate reduction with increased perceptual switch probability. In the visual domain, perceptual switches induced by a short interruption of visual input (blank) allowed an estimate of the timing of the perceptual event with respect to the motor response. This provided the first evidence that the blink reduction was not a consequence of the perceptual switch. Importantly, by showing that the time between switches and the previous blink was significantly longer than the inter‐blink interval, our studies allowed to conclude that perceptual switches did not happen at random but followed a prolonged period of nonblinking. Correspondingly, blink rate and switch rate showed an inverse relationship. Our study supports the idea that the absence or presence of blinks maps perceptual processes independent of the sensory modality.
Natural dyeing of plasma treated wool with avocado seed extract and use of tartaric acid as bio‐mordant
Authors: Üren Nazlı , Kutlu Bengi 
Published: February 2024

AbstractIn this study, surface modification of wool fabrics by oxygen plasma was carried out to enhance colour, dyeability and fastness properties. Avocado (Persea americana) seed was selected as the natural dye source, plasma activated wool samples were dyed with the extracted colourant and tartaric acid (10% and 20% owf) was used for simultaneous mordanting. All samples exhibited very good washing and dry rubbing fastness grades. It was observed that plasma treated samples have darker and more saturated colours with a persistent hue and increased wet rubbing fastness grades. Applying plasma treatment and using tartaric acid as bio‐mordant provided a noticeable increase in chroma and colour strength, and a slight improvement in fastness to light. Effect of pH of the dye bath on dyeability and the bio‐mordant role of tartaric acid were also investigated for four mordant concentrations (2%, 5%, 10% and 20% owf), and it was detected that using 5% owf or higher concentrations of tartaric acid provided different colour characteristics and dyeability when compared to the dye solutions prepared with inorganic acid. Based on findings of the study, it was concluded that modifying the fabric surface by oxygen plasma can be used to enhance the dyeing performance without causing a major change in the characteristic hue of the colourant extracted from avocado seeds. The use of tartaric acid ‐ solitary or accompanied with plasma treatment ‐ to increase the affinity between the colouring matter and the fibre was also recommended.
Cognitive deficits and enhancements in youth from adverse conditions: An integrative assessment using Drift Diffusion Modeling in the ABCD study
Authors: Vermeent Stefan , Young Ethan S. , DeJoseph Meriah L. , Schubert Anna‐Lena , Frankenhuis Willem E. 
Published: February 2024

AbstractChildhood adversity can lead to cognitive deficits or enhancements, depending on many factors. Though progress has been made, two challenges prevent us from integrating and better understanding these patterns. First, studies commonly use and interpret raw performance differences, such as response times, which conflate different stages of cognitive processing. Second, most studies either isolate or aggregate abilities, obscuring the degree to which individual differences reflect task‐general (shared) or task‐specific (unique) processes. We addressed these challenges using Drift Diffusion Modeling (DDM) and structural equation modeling (SEM). Leveraging a large, representative sample of 9–10 year‐olds from the Adolescent Brain Cognitive Development (ABCD) study, we examined how two forms of adversity—material deprivation and household threat—were associated with performance on tasks measuring processing speed, inhibition, attention shifting, and mental rotation. Using DDM, we decomposed performance on each task into three distinct stages of processing: speed of information uptake, response caution, and stimulus encoding/response execution. Using SEM, we isolated task‐general and task‐specific variances in each processing stage and estimated their associations with the two forms of adversity. Youth with more exposure to household threat (but not material deprivation) showed slower task‐general processing speed, but showed intact task‐specific abilities. In addition, youth with more exposure to household threat tended to respond more cautiously in general. These findings suggest that traditional assessments might overestimate the extent to which childhood adversity reduces specific abilities. By combining DDM and SEM approaches, we can develop a more nuanced understanding of how adversity affects different aspects of youth's cognitive performance.Research Highlight
To understand how childhood adversity shapes cognitive abilities, the field needs analytical approaches that can jointly document and explain patterns of lowered and enhanced performance.
Using Drift Diffusion Modeling and Structural Equation Modeling, we analyzed associations between adversity and processing speed, inhibition, attention shifting, and mental rotation.
Household threat, but not material deprivation, was mostly associated with slower task‐general processing speed and more response caution. In contrast, task‐specific abilities were largely intact.
Researchers might overestimate the impact of childhood adversity on specific abilities and underestimate the impact on general processing speed and response caution using traditional measures.
Effects of pericardiocentesis on renal function and cardiac hemodynamics
Authors: Shmueli Hezzy , Shah Maulin , Patel Yatindra , Nguyen Long‐Co , Hardy Hannah , Rader Florian , Siegel Robert J. 
Published: February 2024

AbstractBackgroundPrevious case studies have reported reversal of acute renal failure after pericardiocentesis in pericardial effusion. This study examines the effects of pericardiocentesis on preprocedural low cardiac output and acute renal dysfunction in patients with pericardial effusion.MethodsThis is a retrospective study of 95 patients undergoing pericardiocentesis between 2015 and 2020. Pre‐ and post‐procedure transthoracic echocardiograms (TTE) were reviewed for evidence of cardiac tamponade, resolution of pericardial effusion, and for estimation of right atrial (RA) pressure and cardiac output. Laboratory values were compared at presentation and post‐procedure. Patients on active renal replacement therapy were excluded.ResultsNinety‐five patients were included for analysis (mean age 62.2 ± 17.8 years, 58% male). There was a significant increase in glomerular filtration rate pre‐ and post‐procedure. Fifty‐six patients (58.9%) had an improvement in glomerular filtration rate after pericardiocentesis (termed “responders”), and these patients had a lower pre‐procedure glomerular filtration rate than “non‐responders.” There was a significant improvement in estimated cardiac output and right atrial pressure for patients in both groups. Patients who had an improvement in renal function had significantly lower pre‐procedural diastolic blood pressure and mean arterial pressure.ConclusionsPericardial drainage may improve effusion‐mediated acute renal dysfunction by reducing right atrial pressure and thus systemic venous congestion, and by increasing forward stroke volume and perfusion pressure.
Invasion of an Afrotemperate forest complex by the polyphagous shot hole borer beetle
Authors: Townsend G. , van Rooyen E. , Hill M. , De Beer W. , Roets F. 
Published: February 2024

AbstractThe polyphagous shot hole borer (PSHB), Euwallacea fornicatus Eichhoff (Coleoptera: Curculionidae, Scolytinae), is a significant tree‐killing pest recently introduced into South Africa. Many native trees in urban settings are susceptible to infestation, but the presence of PSHB in natural ecosystems is unstudied. The presence and drivers of PSHB colonization in 1682 trees of 68 species were evaluated in 51 plots across a native Afrotemperate forest complex in South Africa. Breeding colonies of PSHB were found in six native species (breeding hosts). An additional 11 species did not contain PSHB colonies but hosted its mutualistic fungus Fusarium euwallaceae Freeman et al. (Hypocreales: Nectriaceae). Invasibility increased when plots were closer to the urban infestation border, further away from surface water, and when containing a larger number of breeding hosts. Invasibility decreased with an increase in tree species richness. Polyphagous shot hole borers were found in climax forest distant to urban areas at sites frequented by tourists. The severity of infestation of trees increased with an increase in host diameter, breeding host abundance, and infested tree abundance. Probability of infestation increased with an increase in the number of infested trees. Infested trees were not spatially clumped. Instead, PSHB preferentially selected eight of the 17 native host species. And the data suggest that larger trees of these species may be more susceptible to PSHB. Eight species were infested at random and two were infested seemingly accidentally. Infestations increased more rapidly on larger trees and on those surrounded by a high abundance of breeding hosts. This study confirms that Afrotemperate forests are highly susceptible to invasion by PSHB. Direct anthropogenic impact had no discernible effect on infestations, but humans aided spread of PSHB to distant sites. Halting movement of contaminated wood is important. Management of PSHB should focus on highly infested areas and trees as these increase the likelihood of further and more severe infestations.
Multi‐generation genetic contributions of immigrants reveal cryptic elevated and sex‐biased effective gene flow within a natural meta‐population
Authors: Reid Jane M. , Dickel Lisa , Keller Lukas F. , Nietlisbach Pirmin , Arcese Peter 
Published: February 2024

AbstractImpacts of immigration on micro‐evolution and population dynamics fundamentally depend on net rates and forms of resulting gene flow into recipient populations. Yet, the degrees to which observed rates and sex ratios of physical immigration translate into multi‐generational genetic legacies have not been explicitly quantified in natural meta‐populations, precluding inference on how movements translate into effective gene flow and eco‐evolutionary outcomes. Our analyses of three decades of complete song sparrow (Melospiza melodia) pedigree data show that multi‐generational genetic contributions from regular natural immigrants substantially exceeded those from contemporary natives, consistent with heterosis‐enhanced introgression. However, while contributions from female immigrants exceeded those from female natives by up to three‐fold, male immigrants' lineages typically went locally extinct soon after arriving. Both the overall magnitude, and the degree of female bias, of effective gene flow therefore greatly exceeded those which would be inferred from observed physical arrivals, altering multiple eco‐evolutionary implications of immigration.
Evaluation of the concomitant use of prophylactic treatments in patients with migraine under anti‐calcitonin gene‐related peptide therapies: The PREVENAC study
Authors: Gago‐Veiga Ana Beatriz , Lopez‐Alcaide Noelia , Quintas Sonia , Fernández Lázaro Iris , Casas‐Limón Javier , Calle Carlos , Latorre Germán , González‐García Nuria , Porta‐Etessam Jesús , Rodriguez‐Vico Jaime , Jaimes Alex , Gómez García Andrea , García‐Azorín David , Guerrero‐Peral Ángel Luis , Sierra Álvaro , Lozano Ros Alberto , Sánchez‐Soblechero Antonio , Díaz‐de‐Teran Javier , Membrilla Javier A. , Treviño Cristina , Gonzalez‐Martinez Alicia 
Published: February 2024

AbstractBackground and purposeAnti‐calcitonin gene‐related peptide (CGRP) therapies are recent preventive therapies approved for both episodic and chronic migraine. One of the measures of effectiveness is the withdrawal of other preventive treatments. The objective of this study is to quantify the impact of anti‐CGRP drugs in concomitant preventive treatment in patients with migraine.MethodsThis was an observational, retrospective, multicenter cohort study with patients from nine national headache units. Patients with migraine undergoing treatment for at least 6 months with anti‐CGRP antibodies, who were initially associated with some preventive treatment (oral and/or onabotulinumtoxinA) were included. Demographic and clinical variables were collected, as well as variables related to headache. Differences according to withdrawal or nonwithdrawal were evaluated.ResultsA total of 408 patients were included, 86.52% women, 48.79 (SD = 1.46) years old. Preventive treatment was withdrawn in 43.87% (179/408), 20.83% partially and 23.04% totally. In 27.45% (112/408), it was maintained exclusively due to comorbidity and in 28.6% (117/408) due to partial efficacy. The most frequent time of withdrawal was between 3 and 5 months after the start of treatment. The baseline characteristics associated with nonwithdrawal were comorbidities: insomnia, hypertension and obesity, chronic migraine, and medication overuse. In the multivariate analysis, the absence of high blood pressure, a greater number of preventive treatments at the start, and a lower number of migraine days/month after anti‐CGRP treatment were independently associated with withdrawal of the treatment (p < 0.05).ConclusionsAnti‐CGRP antibodies allow the withdrawal of associated preventive treatment in a significant percentage of patients, which supports its effectiveness in real‐life conditions.
The Australian National University Alzheimer's Disease Risk Index (ANU‐ADRI) score as a predictor for cognitive decline and potential surrogate outcome in the FINGER lifestyle randomized controlled trial
Authors: Hall Anette , Barbera Mariagnese , Lehtisalo Jenni , Antikainen Riitta , Huque Hamidul , Laatikainen Tiina , Ngandu Tiia , Soininen Hilkka , Stephen Ruth , Strandberg Timo , Kivipelto Miia , Anstey Kaarin J. , Solomon Alina 
Published: February 2024

AbstractBackground and purposeThe complex aetiology of Alzheimer's disease suggests prevention potential. Risk scores have potential as risk stratification tools and surrogate outcomes in multimodal interventions targeting specific at‐risk populations. The Australian National University Alzheimer's Disease Risk Index (ANU‐ADRI) was tested in relation to cognition and its suitability as a surrogate outcome in a multidomain lifestyle randomized controlled trial, in older adults at risk of dementia.MethodsIn this post hoc analysis of the Finnish Intervention Study to Prevent Cognitive Impairment and Disability (FINGER), ANU‐ADRI was calculated at baseline, 12, and 24 months (n = 1174). The association between ANU‐ADRI and cognition (at baseline and over time), the intervention effect on changes in ANU‐ADRI, and the potential impact of baseline ANU‐ADRI on the intervention effect on changes in cognition were assessed using linear mixed models with maximum likelihood estimation.ResultsA higher ANU‐ADRI was significantly related to worse cognition, at baseline (e.g., estimate for global cognition [95% confidence interval] was −0.028 [−0.032 to −0.025]) and over the 2‐year study (e.g., estimate for 2‐year changes in ANU‐ADRI and per‐year changes in global cognition [95% confidence interval] was −0.068 [−0.026 to −0.108]). No significant beneficial intervention effect was reported for ANU‐ADRI, and baseline ANU‐ADRI did not significantly affect the response to the intervention on changes in cognition.ConclusionsThe ANU‐ADRI was effective for the risk prediction of cognitive decline. Risk scores may be crucial for the success of novel dementia prevention strategies, but their algorithm, the target population, and the intervention design should be carefully considered when choosing the appropriate tool for each context.
Infection‐related sexual conflict in mating behaviors of wolf spiders
Authors: Bauer‐Nilsen Olivia , McConnell Megan , Uetz George 
Published: February 2024

AbstractResistance to mating by females has been hypothesized as a tactic to assess potential mates and avoid undesirable ones. Previous studies show infection with the pathogenic bacteria, Pseudomonas aeruginosa, triggers a costly immune response and negatively impacts fitness in the wolf spider Schizocosa ocreata (Hentz 1844). Studies also show that infection can be transmitted during copulation, suggesting that there are potential fitness costs associated with mating with an infected individual. We examined impacts of infection on mating interactions of male and female S. ocreata. As studies show infection can be detected through chemical cues, we tested whether males or females avoid mating with infected individuals when given the opportunity. We paired infected and uninfected (control) males and females and recorded their behavior. We found that mating outcome was independent of infection for males and females. While higher male courtship rates and more frequent female receptivity displays were associated with successful mating, we saw no direct effect of infection status on mating outcome. However, among spider pairs that did not mate, females were found to be significantly more resistant and aggressive toward infected males than control males. Male aggression, on the other hand, was greater in pairs that did result in mating. These results suggest that sexual conflict in mating can be related to infection status, and that females can recognize infected males and alter their behavior in response.
Minimizing observer bias in animal behavior studies revisited: Improvement, but a long way to go
Authors: Freeberg Todd M. , Benson Scott A. , Burghardt Gordon M. 
Published: February 2024

AbstractFor decades, texts on methods in animal behavior research have stressed the need for observers of behavior to work to minimize potential unconscious biases in their coding of data. Two major ways of minimizing these biases are to carry out data coding blind to the key comparisons being made in the study and to have high inter‐observer reliability. Over 10 years ago, Burghardt et al. (2012, Ethology, 118, 511) reviewed five major journals in the field of animal behavior and coded randomly selected articles from five decadal volumes (1970 to 2010). That earlier article found poor rates of reporting these two common methods for minimizing potential biases. Here, we carried out similar coding for the 2020 volumes from those same five journals. We found that rates of reporting have increased in all five journals – some substantially. However, rates of reporting still lag behind the journal Infancy, which publishes research on human infant development and relies on many of the same behavioral observation and coding methods used by animal behavior researchers. Given increased calls for transparency and reproducibility in many different fields of scientific study, we argue that we – researchers, reviewers, and editors – can and need to do better at making sure we are actively conducting research in ways to minimize potential observer biases.