bluuebunny/crossref_metadata_2025_split huggingface dataset:
ACTN1‐related thrombocytopenia: Homozygosity for an ACTN1 variant results in a more severe phenotype
Authors: Zanchetta Melania Eva , Barozzi Serena , Isidori Federica , Marconi Caterina , Farinasso Loredana , Bottega Roberta , Savoia Anna , Pecci Alessandro , Faleschini Michela 
Published: April 2024

SummaryACTN1‐related thrombocytopenia is a rare disorder caused by heterozygous variants in the ACTN1 gene characterized by macrothrombocytopenia and mild bleeding tendency. We describe for the first time two patients affected with ACTN1‐RT caused by a homozygous variant in ACTN1 (c.982G>A) with mild heart valve defects unexplained by any other genetic variants investigated by WES. Within the reported family, the homozygous sisters have moderate thrombocytopenia and marked platelet macrocytosis with giant platelets, revealing a more severe haematological phenotype compared to their heterozygous relatives and highlighting a significant effect of allelic burden on platelet size. Moreover, we hypothesize that some ACTN1 variants, especially when present in the homozygous state, may also contribute to the cardiac abnormalities.
Rethinking ecological niches and geographic distributions in face of pervasive human influence in the Anthropocene
Authors: Feng Xiao , Peterson A. Townsend , Aguirre‐López Luis José , Burger Joseph R. , Chen Xin , Papeş Monica 
Published: April 2024

ABSTRACTSpecies are distributed in predictable ways in geographic spaces. The three principal factors that determine geographic distributions of species are biotic interactions (B), abiotic conditions (A), and dispersal ability or mobility (M). A species is expected to be present in areas that are accessible to it and that contain suitable sets of abiotic and biotic conditions for it to persist. A species' probability of presence can be quantified as a combination of responses to B, A, and M via ecological niche modeling (ENM; also frequently referred to as species distribution modeling or SDM). This analytical approach has been used broadly in ecology and biogeography, as well as in conservation planning and decision‐making, but commonly in the context of ‘natural’ settings. However, it is increasingly recognized that human impacts, including changes in climate, land cover, and ecosystem function, greatly influence species' geographic ranges. In this light, historical distinctions between natural and anthropogenic factors have become blurred, and a coupled human–natural landscape is recognized as the new norm. Therefore, B, A, and M (BAM) factors need to be reconsidered to understand and quantify species' distributions in a world with a pervasive signature of human impacts. Here, we present a framework, termed human‐influenced BAM (Hi‐BAM, for distributional ecology that (i) conceptualizes human impacts in the form of six drivers, and (ii) synthesizes previous studies to show how each driver modifies the natural BAM and species' distributions. Given the importance and prevalence of human impacts on species distributions globally, we also discuss implications of this framework for ENM/SDM methods, and explore strategies by which to incorporate increasing human impacts in the methodology. Human impacts are redefining biogeographic patterns; as such, future studies should incorporate signals of human impacts integrally in modeling and forecasting species' distributions.
Does the potential strength of sexual selection differ between mating systems with and without defensive behaviours? A meta‐analysis
Authors: Macedo‐Rego Renato C. , Jennions Michael D. , Santos Eduardo S. A. 
Published: April 2024

ABSTRACTThe Darwin–Bateman paradigm predicts that females enhance their fitness by being choosy and mating with high‐quality males, while males should compete to mate with as many females as possible. In many species, males enhance their fitness by defending females and/or resources used by females. That is, males directly defend access to mating opportunities. However, paternity analyses have repeatedly shown that females in most species mate polyandrously, which contradicts traditional expectations that male defensive behaviours lead to monandry. Here, in an extensive meta‐analysis, encompassing 109 species and 1026 effect sizes from across the animal kingdom, we tested if the occurrence of defensive behaviours modulates sexual selection on females and males. If so, we can illuminate the extent to which males really succeed in defending access to mating and fertilisation opportunities. We used four different indices of the opportunity for sexual selection that comprise pre‐mating and/or post‐mating episodes of selection. We found, for both sexes, that the occurrence of defensive behaviours does not modulate the potential strength of sexual selection. This implies that male defensive behaviours do not predict the true intensity of sexual selection. While the most extreme levels of sexual selection on males are in species with male defensive behaviours, which indicates that males do sometimes succeed in restricting females' re‐mating ability (e.g. elephant seals, Mirounga leonina), estimates of the opportunity for sexual selection vary greatly across species, regardless of whether or not defensive behaviours occur. Indeed, widespread polyandry shows that females are usually not restricted by male defensive behaviours. In addition, our results indicate that post‐mating episodes of selection, such as cryptic female choice and sperm competition, might be important factors modulating the opportunity for sexual selection. We discuss: (i) why male defensive behaviours fail to lower the opportunity for sexual selection among females or fail to elevate it for males; (ii) how post‐mating events might influence sexual selection; and (iii) the role of females as active participants in sexual selection. We also highlight that inadequate data reporting in the literature prevented us from extracting effect sizes from many studies that had presumably collected the relevant data.
GNB1 and obesity: Evidence for a correlation between haploinsufficiency and syndromic obesity
Authors: Kleinendorst Lotte , Abawi Ozair , Vos Niels , van der Valk Eline S. , Maas Saskia M. , Morgan Angela T. , Hildebrand Michael S. , Da Silva Jorge D. , Florijn Ralph J. , Lauffer Peter , Visser Jenny A. , van Rossum Elisabeth F. C. , van den Akker Erica L. T. , van Haelst Mieke M. 
Published: April 2024

SummaryMost patients with GNB1 encephalopathy have developmental delay and/or intellectual disability, brain anomalies and seizures. Recently, two cases with GNB1 encephalopathy caused by haploinsufficiency have been reported that also show a Prader–Willi‐like phenotype of childhood hypotonia and severe obesity. Here we present three new cases from our expert centre for genetic obesity in which GNB1 truncating and splice variants, probably leading to haploinsufficiency, were identified. They all have obesity, hyperphagia and intellectual deficit. The clinical cases and their weight courses are presented, together with a review of all 68 published cases with GNB1 encephalopathy. Information on weight was not mentioned in most of these articles, so we contacted authors for additional clinical information on weight status and hyperphagia. Of the 42 patients whose weight status we could determine, obesity was present in 8 patients (19%). Obesity is significantly over‐represented in the group with truncating and splicing variants. In this group, we see an obesity prevalence of 75%. Since GNB1 has been linked to several key genes in the hypothalamic leptin‐melanocortin pathway, which regulates satiety and energy expenditure, our data support the potential association between GNB1 haploinsufficiency and genetic obesity. We also suggest GNB1 is a candidate gene for the known obesity phenotype of the 1p36 microdeletion syndrome given this chromosomal region includes the GNB1 gene. Knowledge of an additional obesity phenotype is important for prognosis, early interventions against obesity and awareness when prescribing weight‐inducing medication.
Transanal ileal pouch–anal anastomosis for inflammatory bowel disease: a systematic review and meta‐analysis of short‐term outcomes
Authors: Lincango Eddy P. , Dominguez Oscar Hernandez , Prien Christopher , Duraes Leonardo , Jia Xue , Uchino Tarin , Wong Jean , Lipman Jeremy , Liska David , Hull Tracy L. , Valente Michael A. , Steele Scott R. , Holubar Stefan D. 
Published: April 2024

AbstractAimRestorative proctocolectomy with transabdominal ileal pouch–anal anastomosis (abd‐IPAA) has become the standard surgical treatment for medically refractory ulcerative colitis (UC). However, it requires a technically difficult distal anorectal dissection and anastomosis due to the bony confines of the deep pelvis. To address these challenges, the transanal IPAA approach (ta‐IPAA) was developed. This novel approach may offer increased visibility and range of motion compared with abd‐IPAA, although its postoperative benefits remain unclear. The aim of this work was to perform a systematic review and meta‐analysis to compare and inform the frequency of postoperative outcomes between ta‐IPAA and abd‐IPAA for patients with UC.MethodSeveral databases were searched from inception until May 2022 for studies reporting postoperative outcomes of patients undergoing ta‐IPAA. Reviewers, working independently and in duplicate, evaluated studies for inclusion and graded the risk of bias. Odds ratios (OR), mean differences (MD) and prevalence ratio (PR) and their corresponding 95% confidence intervals (CIs) were calculated using random‐effects models. Sensitivity analysis was performed.ResultsTen retrospective studies comprising 284 patients with ta‐IPAA were included. Total mesorectal excision was performed in 61.8% of cases and close rectal dissection in 27.9%. There was no difference in the odds of Clavien–Dindo (CD) I–II complications, CD III–IV and anastomotic leak (OR 0.96, 95% CI 0.27–3.40; OR 1.18, 95% CI 0.65–2.16; OR 1.37, 95% CI 0.58–3.23; respectively) between ta‐IPAA and abd‐IPAA. The ta‐IPAA pooled CD I–II complication rate was 18% (95% CI 5%–35%) and for CD III–IV 10% (95% CI 5%–17%), and the anastomotic leak rate was 6% (95% CI 2%–10%). There were no deaths reported.ConclusionsThis meta‐analysis compared the novel ta‐IPAA procedure with abd‐IPAA and found no difference in postoperative outcomes. While the need for randomized controlled trails and comparison of functional outcomes between both approaches remains, this evidence should assist colorectal surgeons to decide if ta‐IPAA is a viable alternative.
1086. Bulbophyllum infundibuliforme J.J. Sm. subsp. infundibuliforme: Orchidaceae
Authors: Schuiteman André , Lambkin Deborah 
Published: April 2024

SummaryAn orchid from New Guinea and the Moluccas, Bulbophyllum infundibuliforme J.J. Sm. subsp. infundibuliforme is illustrated. Its taxonomy and ecology are discussed; B. infundibuliforme subsp. hymenobracteum (Schltr.) De Witte & J.J.Verm. is included for comparison.
Effectiveness of web‐based personalised feedback interventions for reducing alcohol consumption among university students: A systematic review and meta‐analysis
Authors: Pueyo‐Garrigues María , Carver Hannah , Parr Amy , Lavilla‐Gracia María , Alfaro‐Díaz Cristina , Esandi‐Larramendi Nuria , Canga‐Armayor Navidad 
Published: April 2024

AbstractIssuesMeta‐analysis was conducted to examine standalone web‐based personalised feedback interventions (PFI) delivered in non‐structured settings for reducing university students' alcohol consumption. Subgroup analyses by gender‐focus, type‐of‐content and accessibility were conducted. Characteristics of the sample, the intervention and study quality were examined as moderators.ApproachTen databases were searched from 2000 to 2023. Eligible articles involved only randomised controlled trials. Random‐effects meta‐analysis was conducted to calculate the effect size on weekly alcohol consumption comparing web‐PFIs and non‐active controls. Meta‐regressions were applied to explore effect moderators.Key FindingsThirty‐one studies were included in the narrative synthesis, 25 of which were meta‐analysed. Results found significant effect size differences on weekly alcohol consumption in favour of the intervention group in the short‐ (SMD = 0.11, 95% confidence interval [CI] 0.06, 0.15) and long‐term period (SMD = 0.09, 95% CI 0.02, 0.15). Subgroup analyses identified that interventions which were gender‐specific, multicomponent and had unlimited access had higher and significant effect sizes, although they were very similar with respect to comparative groups. Moderator analyses showed that times feedback was accessed significantly contributed to the effectiveness of the intervention. Effects diminished over time, although they remained significant.ImplicationsThe meta‐analysis evidences the effectiveness of web‐PFI for addressing university students' alcohol use, decreasing by 1.65 and 1.54 drinks consumed per week in the short‐ and long‐term, respectively.ConclusionsThe results offer empirical evidence that supports the significant, although small, effect of web‐PFI delivered remotely in universities. Future research should focus on increasing their impact by introducing booster sessions and content components based on students' preferences.
When is a word in good company for learning?
Authors: Unger Layla , Chang Tyler , Savic Olivera , Bergen Benjamin K. , Sloutsky Vladimir M. 
Published: April 2024

AbstractAlthough identifying the referents of single words is often cited as a key challenge for getting word learning off the ground, it overlooks the fact that young learners consistently encounter words in the context of other words. How does this company help or hinder word learning? Prior investigations into early word learning from children's real‐world language input have yielded conflicting results, with some influential findings suggesting an advantage for words that keep a diverse company of other words, and others suggesting the opposite. Here, we sought to triangulate the source of this conflict, comparing different measures of diversity and approaches to controlling for correlated effects of word frequency across multiple languages. The results were striking: while different diversity measures on their own yielded conflicting results, once nonlinear relationships with word frequency were controlled, we found convergent evidence that contextual consistency supports early word learning.Research Highlights
The words children learn occur in a sea of other words. The company words keep ranges from highly variable to highly consistent and circumscribed.
Prior findings conflict over whether variability versus consistency helps early word learning.
Accounting for correlated effects of word frequency resolved the conflict across multiple languages.
Results reveal convergent evidence that consistency helps early word learning.
Single versus dual antiplatelet therapy following percutaneous left atrial appendage closure—A systematic review and meta‐analysis
Authors: Continisio Saverio , Montonati Carolina , Angelini Filippo , Bocchino Pier Paolo , Carbonaro Carla , Giacobbe Federico , Dusi Veronica , De Filippo Ovidio , Ielasi Alfonso , Giannino Giuseppe , Boldi Emiliano , Fabris Tommaso , D'Ascenzo Fabrizio , De Ferrari Gaetano Maria , Tarantini Giuseppe 
Published: April 2024

AbstractBackgroundIn the last few years, percutaneous LAA occlusion (LAAO) has become a plausible alternative in atrial fibrillation (AF) patients with contraindications to anticoagulation therapy. Nevertheless, the optimal antiplatelet strategy following percutaneous LAAO remains to be defined.MethodsStudies comparing single antiplatelet therapy (SAPT) versus dual antiplatelet therapy (DAPT) following LAAO were systematically searched and screened. The outcomes of interest were ischemic stroke, device‐related thrombus (DRT) and major bleeding. A random‐effect meta‐analysis was performed comparing outcomes in both groups. The moderator effect of baseline characteristics on outcomes was evaluated by univariate meta‐regression analyses.ResultsSixteen observational studies with 3255 patients treated with antiplatelet therapy (SAPT, n = 1033; DAPT, n = 2222) after LAAO were included. Mean age was 74.5 ± 8.3 years, mean CHA2DS2‐VASc and HAS‐BLED scores were 4.3 ± 1.5 and 3.2 ± 1.0, respectively. At a weighted mean follow‐up of 12.7 months, the occurrence of stroke (RR 1.33; 95% CI 0.64–2.77; p =.44), DRT (RR 1.52; 95% CI 0.90–2.58; p =.12), and the composite of stroke and DRT (RR 1.26; 95% CI 0.67–2.37; p =.47) did not differ significantly between SAPT and DAPT groups. The rate of major bleedings was also not different between groups (RR 1.41; 95% CI 0.64–3.12; p =.39).ConclusionsAmong AF patients at high bleeding risk undergoing percutaneous LAAO, a post‐procedural minimalistic antiplatelet strategy with SAPT did not significantly differ from DAPT regimens regarding the rate of stroke, DRT and major bleeding.
Modified Mohr–Coulomb criterion for nonlinear strength characteristics of rocks
Authors: Xie Shijie , Lin Hang , Chen Yifan , Ma Tianxing 
Published: April 2024

AbstractThe classical Mohr–Coulomb criterion has an extremely wide range of applications in the field of engineering geology, while it cannot accurately characterize rock failure under high confining stresses. Therefore, a nonlinear modification is implemented based on the Mohr–Coulomb criterion for achieving wider usage in all stress environments. The cohesion and internal friction angle are firstly calculated by regression based on the triaxial experiments of diorite and other typical rocks in different confining stress ranges, and the variation modes of cohesion and internal friction angle are then formalized and integrated into the classical Mohr–Coulomb criterion. Using the experimental results of 435 triaxial compression tests in existing publications, the predictions of the modified criterion are compared with those of the previous nonlinear criteria, which show that the predicted values of the modified criterion are in good agreement with the measured strength. Compared with the previous nonlinear criteria, the modified criterion has a wider application range and always maintains a higher accuracy.
Crystal plasticity modeling fatigue behavior in bimodal Ti–6Al–4V: Effects of microdefect and lamellar orientation
Authors: Zhao Yindun , Tang Keke , Ferro Paolo , Berto Filippo 
Published: April 2024

AbstractInvestigating fatigue failure in titanium alloys is crucial for material design and engineering. Fatigue behavior in dual‐phase titanium alloys is strongly correlated with microstructural features and microdefects. This work formulates an improved modeling method to investigate fatigue behavior of bimodal Ti–6Al–4V, emphasizing the effects of lamellar orientation and microdefects. Using an improved Voronoi tessellation method, we establish representative volume element (RVE) models with various grain size distributions. Crystal plasticity finite element modeling (CPFEM) is used to analyze fatigue deformation in bimodal Ti–6Al–4V, considering microdefects and lamellar orientation. Fatigue indicator parameters are then incorporated into CPFEM to predict fatigue life and verified with experimental data. Numerical results highlight the significant influence of lamellar orientation and microdefects on fatigue behavior, with predicted life within the 3‐error band. This method efficiently overcomes challenges in quantitatively characterizing microstructural lamellae that experiments are short of, paving the way for designing fatigue‐resistant alloy materials with similar microstructures.
A cohesive model for the rupture of concrete by low‐cycle fatigue
Authors: Lima Gedyson , Bittencourt Eduardo 
Published: April 2024

AbstractIn this work, a finite element cohesive fatigue model for concrete is proposed. A procedure to simulate monotonic rupture is included. Damage is calculated as a function of accumulated crack openings and the current traction on the cohesive zone. Only mode I fracture is considered. Concretes with different strengths and specimens with different sizes are considered. Size dependency was introduced in the model through the cohesive strength and the corresponding cohesive length. Other monotonic and cyclic properties are considered constant or dependent on the material strength. An excellent fit with experiments is obtained. Methodology is able to capture an embrittlement of the fatigue process with increase in size. In this case, crack (or process zone) becomes unstable for shorter sizes and a more abrupt change to unstable growth is observed. Predictive capabilities of the model are observed considering S‐N curves. A good match was observed in the low‐cycle fatigue range.
Fatigue, fear of being mobilized and residual limb pain limit independent basic mobility and physiotherapy for patients early after major dysvascular lower extremity amputation: A prospective cohort study
Authors: Berger Anja Løve , Nielsen Annie Østergaard , Stie Sanne Busk , Kristensen Morten Tange 
Published: April 2024

AimEarly mobilization of patients with a major lower extremity amputation (LEA) is often a challenge because of lack of compliance. Therefore, we investigated factors limiting independent mobility and physiotherapy on the first day with physiotherapy (PTDay1) and the following 2 days after LEA.MethodsA total of 60 consecutive patients, mean age 73.7 years (SD 12.1 years), undergoing LEA were included over a period of 7 months. The Basic Amputee Mobility Score was used to assess basic mobility. Predefined limitations for not achieving independent mobility or not completing physiotherapy were residual limb pain, pain elsewhere, fear of being mobilized, fatigue, nausea/vomiting, acute cognitive dysfunction or “other” factors reported on PTDay1 and the following 2 days after LEA.ResultsFatigue and fear of being mobilized were the most frequent limitations for not achieving independent mobility on PTDay1 and the following 2 days after LEA. Patients (n = 55) who were not independent in the Basic Amputee Mobility Score activity transferring from bed to chair on PTDay1 were limited by fatigue (44%) and fear of being mobilized (33%). A total of 21 patients did not complete planned physiotherapy on PTDay1, and were limited by fatigue (38%), residual limb pain (24%) and “other” factors (24%).ConclusionFatigue and fear of being mobilized were the most frequent factors that limited independent mobility early after LEA. Fatigue, residual limb pain and “other” factors limited completion of physiotherapy. Geriatr Gerontol Int 2024; 24: 470–476.
A theological reading of the ‘welcome’ offered by God and Christ in Romans 14–15 using the Septuagint
Authors: Wright Oliver TI 
Published: April 2024

AbstractThis article proposes a theological emphasis to the definition of προσλαμβάνω in Romans 14–15. Previous accounts have emphasised the domestic and social implication of Paul's imperative—‘welcome one another’ (Rom. 15:7a). The result has been that what Paul might have meant by God's and Christ's ‘welcome’ (Rom. 14:3 and 15:7b) has been governed by the ethical imperative. In order to investigate the ‘welcome’ of God and Christ, this article proposes a context of three important Septuagintal antecedents as yet unconsidered: 1 Samuel 12, Psalm 18, and Psalm 65: In this context, God's and Christ's ‘welcome’ in Rom. 14–15 incorporates notions of justification, election, salvation, and unified worship. A theological reading of προσλαμβάνω, using these intertextual resources, therefore provides a stronger position from which to understand Paul's imperative—‘welcome one another’.