bluuebunny/crossref_metadata_2025_split huggingface dataset:
White matter tracts and executive functions: a review of causal and correlation evidence
Authors: Ribeiro Monica , Yordanova Yordanka Nikolova , Noblet Vincent , Herbet Guillaume , Ricard Damien 
Published: September 2023

Abstract
Executive functions are high-level cognitive processes involving abilities such as working memory/updating, set-shifting and inhibition. These complex cognitive functions are enabled by interactions among widely distributed cognitive networks, supported by white matter tracts. Executive impairment is frequent in neurological conditions affecting white matter; however, whether specific tracts are crucial for normal executive functions is unclear. We review causal and correlation evidence from studies that used direct electrical stimulation during awake surgery for gliomas, voxel-based and tract-based lesion-symptom mapping, and diffusion tensor imaging to explore associations between the integrity of white matter tracts and executive functions in healthy and impaired adults. The corpus callosum was consistently associated with all executive processes, notably its anterior segments. Both causal and correlation evidence showed prominent support of the superior longitudinal fasciculus to executive functions, notably to working memory. More specifically, strong evidence suggested that the second branch of the superior longitudinal fasciculus is crucial for all executive functions, especially for flexibility. Global results showed left lateralization for verbal tasks and right lateralization for executive tasks with visual demands. The frontal aslant tract potentially supports executive functions, however, additional evidence is needed to clarify whether its involvement in executive tasks goes beyond the control of language. Converging evidence indicates that a right-lateralized network of tracts connecting cortical and subcortical grey matter regions supports the performance of tasks assessing response inhibition, some suggesting a role for the right anterior thalamic radiation. Finally, correlation evidence suggests a role for the cingulum bundle in executive functions, especially in tasks assessing inhibition. We discuss these findings in light of current knowledge about the functional role of these tracts, descriptions of the brain networks supporting executive functions and clinical implications for individuals with brain tumours.
A role for the serotonin 2A receptor in the expansion and functioning of human transmodal cortex
Authors: Luppi Andrea I , Girn Manesh , Rosas Fernando E , Timmermann Christopher , Roseman Leor , Erritzoe David , Nutt David J , Stamatakis Emmanuel A , Spreng R Nathan , Xing Lei , Huttner Wieland B , Carhart-Harris Robin L 
Published: September 2023

Abstract
Integrating independent but converging lines of research on brain function and neurodevelopment across scales, this article proposes that serotonin 2A receptor (5-HT2AR) signalling is an evolutionary and developmental driver and potent modulator of the macroscale functional organization of the human cerebral cortex. A wealth of evidence indicates that the anatomical and functional organization of the cortex follows a unimodal-to-transmodal gradient. Situated at the apex of this processing hierarchy—where it plays a central role in the integrative processes underpinning complex, human-defining cognition—the transmodal cortex has disproportionately expanded across human development and evolution. Notably, the adult human transmodal cortex is especially rich in 5-HT2AR expression and recent evidence suggests that, during early brain development, 5-HT2AR signalling on neural progenitor cells stimulates their proliferation—a critical process for evolutionarily-relevant cortical expansion. Drawing on multimodal neuroimaging and cross-species investigations, we argue that, by contributing to the expansion of the human cortex and being prevalent at the apex of its hierarchy in the adult brain, 5-HT2AR signalling plays a major role in both human cortical expansion and functioning. Owing to its unique excitatory and downstream cellular effects, neuronal 5-HT2AR agonism promotes neuroplasticity, learning and cognitive and psychological flexibility in a context-(hyper)sensitive manner with therapeutic potential. Overall, we delineate a dual role of 5-HT2ARs in enabling both the expansion and modulation of the human transmodal cortex.
Educational inclusion of deaf children: current policy, practices, and future possibilities
Authors: Oppong Alexander M , Swanwick Ruth , Fobi Daniel 
Published: September 2023

Abstract
This paper examines policies and practices of inclusive education for young deaf children in Ghana. Though existing Government policy promotes the principles and implementation of educational inclusion of all children in Ghana, caregivers often encounter significant challenges ensuring access to early years’ education for their deaf children. We used Bronfenbrenner’s (2005) bioecological systems theory and interviewed 15 educators of deaf children and 9 hearing-health clinicians, to capture different knowledge, experience, and perspectives on policy, practice, and inclusive approaches to deaf children’s education. We ask: (a) How do teachers, clinicians, and caregivers connect to promote early childhood care education (ECCE) for young deaf preschoolers in Ghana? and (b) What resources and precarities are available to educators of deaf children and hearing-health clinicians in sustaining inclusive educational practices across urban and rural contexts in Ghana? We address these unanswered questions about the potential pathway to bring about changes in policy and practice in promoting successful inclusive education for deaf children in Ghana. Implications for national and international policy and practice of ECCE for deaf children are discussed and recommendations are made.
Mitigating the Risk of Tofacitinib-induced Adverse Events in the Elderly Population with Ulcerative Colitis
Authors: Viola Anna , Li Voti Raffaele , Bivacqua Chiara , De Francesco Clara , Muscianisi Marco , Costantino Giuseppe , Fries Walter 
Published: September 2023

Abstract

Background and Aims
Older patients with ulcerative colitis treated with tofacitinib are at risk for major cardiovascular events, thromboembolism, herpes zoster, and malignancies and, accordingly, its use is limited by the regulatory authorities. The aim of the present study was to evaluate the occurrence of adverse events and potential preventive measures.

Methods
We retrospectively evaluated patients treated with tofacitinib, divided into two groups according to comorbidities and age. Patient- and disease-related variables were recorded [primary non-response, loss of response, and persistence], together with deviations from the recommended induction regimen, ie, dose reduction, and concomitant treatments with anti-thrombotic therapy.

Results
The age-adjusted Charlson comorbidity index of Group 1 [n = 30] was ≥2 and that of Group 2 [n = 37] was ≤ 1. No differences were observed for primary or secondary treatment failures. Both groups achieved comparable steroid-free remission rates at 12 months [53% and 46%, respectively]. Herpes zoster occurred in two patients per group, and no more cases occurred after strict recombinant zoster vaccination. No major cardiovascular event or thromboembolism was registered. Half of patients in Group 1 were treated with a reduced induction dose of 5 mg twice daily and 47% were on concomitant anti-thrombotic therapy. Malignancies were registered in two patients from Group 1 and one patient from Group 2.

Conclusions
Modulation of induction dose and anti-thrombotic therapy may have contributed to prevent cardiological events and thromboembolism. The introduction of zoster vaccine virtually eliminated zoster risk after the first cases. Potential malignancies deserve a careful work-up of older patients before treatment start.
Long-term outcomes of functional single ventricles associated with heterotaxy syndrome
Authors: Tanimoto Kazuki , Hoashi Takaya , Shibagaki Keisuke , Ono Yoshikazu , Komori Motoki , Okuda Naoki , Imai Kenta , Iwai Shigemitsu , Ichikawa Hajime 
Published: September 2023

Abstract

OBJECTIVES
The goal of this study was to determine the long-term surgical outcomes of patients with functional single ventricles associated with heterotaxy syndrome, risk factors for mortality and factors associated with Fontan stage completion.

METHODS
Overall, 279 patients with a functional single ventricle associated with heterotaxy syndrome who underwent an initial surgical procedure at our institute between 1978 and 2021 were grouped into 4 “eras” based on the surgical year during which the initial procedure was performed: era 1 (1978–1989, n = 71), era 2 (1990–1999, n = 98), era 3 (2000–2009, n = 64) and era 4 (2010–2021, n = 46). Neonatal surgery was more frequent in eras 3 and 4 than in eras 1 and 2.

RESULTS
Overall, 228 patients had right atrial isomerism; 120 patients (43.0%) had a total anomalous pulmonary venous connection; and 58 patients (20.8%) underwent an initial procedure as neonates. Overall survival rates at 10, 20 and 30 years after the initial procedure were 47.1%, 40.6% and 36.1%, respectively. Neonatal surgery (P &lt; 0.001), total anomalous pulmonary venous connection repair at the initial procedure (P &lt; 0.001) and early era (P &lt; 0.001) were identified as risk factors for mortality, with the last 2 variables being negatively associated with Fontan stage completion (P &lt; 0.001 for both).

CONCLUSIONS
Although era had a favourable effect on survival, total anomalous pulmonary venous connection with intrinsic pulmonary vein obstruction was associated with both mortality and Fontan stage completion.

Clinical registration number
R19092
Familial central precocious puberty due to DLK1 deficiency: novel genetic findings and relevance of serum DLK1 levels
Authors: Montenegro Luciana , Seraphim Carlos , Tinano Flávia , Piovesan Maiara , Canton Ana P M , McElreavey Ken , Brabant Severine , Boris Natalia P , Magnuson Melissa , Carroll Rona S , Kaiser Ursula B , Argente Jesús , Barrios Vicente , Brito Vinicius N , Brauner Raja , Latronico Ana Claudia 
Published: September 2023

Abstract

Background
Several rare loss-of-function mutations of delta-like noncanonical notch ligand 1 (DLK1) have been described in non-syndromic children with familial central precocious puberty (CPP).

Objective
We investigated genetic abnormalities of DLK1 gene in a French cohort of children with idiopathic CPP. Additionally, we explored the pattern of DLK1 serum levels in patients with CPP and in healthy children at puberty, as well as in wild-type female mice.

Patients and Methods
Genomic DNA was obtained from 121 French index cases with CPP. Automated sequencing of the coding region of the DLK1 gene was performed in all cases. Serum DLK1 levels were measured by enzyme linked immunosorbent assay (ELISA) in 209 individuals, including 191 with normal pubertal development and in female mice during postnatal pubertal maturation.

Results
We identified 2 rare pathogenic DLK1 allelic variants: A stop gain variant (c.372C&gt;A; p.Cys124X) and a start loss variant (c.2T&gt;G; p.Met1?, or p.0) in 2 French girls with CPP. Mean serum DLK1 levels were similar between healthy children and idiopathic CPP children. In healthy individuals, DLK1 levels correlated with pubertal stage: In girls, DLK1 decreased between Tanner stages III and V, whereas in boys, DLK1 decreased between Tanner stages II and V (P = .008 and .016, respectively). Serum levels of Dlk1 also decreased in wild-type female mice.

Conclusions
Novel loss-of-function mutations in DLK1 gene were identified in 2 French girls with CPP. Additionally, we demonstrated a pattern of dynamic changes in circulating DLK1 serum levels in humans and mice during pubertal stages, reinforcing the role of this factor in pubertal timing.
Nutrient Metabolites Associated With Low D3Cr Muscle Mass, Strength, and Physical Performance in Older Men
Authors: Hetherington-Rauth Megan , Johnson Eileen , Migliavacca Eugenia , Parimi Neeta , Langsetmo Lisa , Hepple Russell T , Grzywinski Yohan , Corthesy John , Ryan Terence E , Ferrucci Luigi , Feige Jérôme N , Orwoll Eric S , Cawthon Peggy M 
Published: September 2023

Abstract

Background
The relationship between amino acids, B vitamins, and their metabolites with D3-creatine (D3Cr) dilution muscle mass, a more direct measure of skeletal muscle mass, has not been investigated. We aimed to assess associations of plasma metabolites with D3Cr muscle mass, as well as muscle strength and physical performance in older men from the Osteoporotic Fractures in Men cohort study.

Methods
Out of 1 425 men (84.2 ± 4.1 years), men with the lowest D3Cr muscle mass (n = 100), slowest walking speed (n = 100), lowest grip strength (n = 100), and a random sample (n = 200) serving as a comparison group to the low groups were included. Metabolites were analyzed using liquid chromatography–tandem mass spectrometry. Metabolite differences between the low groups and random sample and their relationships with the muscle outcomes adjusted for confounders and multiple comparisons were assessed using t-test/Mann–Whitney–Wilcoxon and partial correlations, respectively.

Results
For D3Cr muscle mass, significant biomarkers (p &lt; .001) with ≥10% fold difference and largest partial correlations were tryptophan (Trp; r = 0.31), kynurenine (Kyn)/Trp; r = −0.27), nicotinamide (Nam)/quinolinic acid (Quin; r = 0.21), and alpha-hydroxy-5-methyl-tetrahydrofolate (hm-THF; r = −0.25). For walking speed, hm-THF, Nam/Quin, and Quin had the largest significance and fold difference, whereas valine (r = 0.17), Trp (r = 0.17), HKyn/Xant (r = −0.20), neopterin (r = −0.17), 5-methyl-THF (r = −0.20), methylated folate (r = −0.21), and thiamine (r = −0.18) had the strongest correlations. Only hm-THF was correlated with grip strength (r = −0.21) and differed between the low group and the random sample.

Conclusions
Future interventions focusing on how the Trp metabolic pathway or hm-THF influences D3Cr muscle mass and physical performance declines in older adults are warranted.
CDKL5-mediated developmental tuning of neuronal excitability and concomitant regulation of transcriptome
Authors: Liao Wenlin , Lee Kun-Ze 
Published: September 2023

Abstract
Cyclin-dependent kinase-like 5 (CDKL5) is a serine–threonine kinase enriched in the forebrain to regulate neuronal development and function. Patients with CDKL5 deficiency disorder (CDD), a severe neurodevelopmental condition caused by mutations of CDKL5 gene, present early-onset epilepsy as the most prominent feature. However, spontaneous seizures have not been reported in mouse models of CDD, raising vital questions on the human-mouse differences and the roles of CDKL5 in early postnatal brains. Here, we firstly measured electroencephalographic (EEG) activities via a wireless telemetry system coupled with video-recording in neonatal mice. We found that mice lacking CDKL5 exhibited spontaneous epileptic EEG discharges, accompanied with increased burst activities and ictal behaviors, specifically at postnatal day 12 (P12). Intriguingly, those epileptic spikes disappeared after P14. We next performed an unbiased transcriptome profiling in the dorsal hippocampus and motor cortex of Cdkl5 null mice at different developmental timepoints, uncovering a set of age-dependent and brain region-specific alterations of gene expression in parallel with the transient display of epileptic activities. Finally, we validated multiple differentially expressed genes, such as glycine receptor alpha 2 and cholecystokinin, at the transcript or protein levels, supporting the relevance of these genes to CDKL5-regulated excitability. Our findings reveal early-onset neuronal hyperexcitability in mouse model of CDD, providing new insights into CDD etiology and potential molecular targets to ameliorate intractable neonatal epilepsy.
Albanese Maps for Open Algebraic Spaces
Authors: Schröer Stefan 
Published: September 2023

Abstract
We show that for each algebraic space that is separated and of finite type over a field, and whose affinization is connected and reduced, there is a universal morphism to a para-abelian variety. The latter are schemes that acquire the structure of an abelian variety after some ground field extension. This generalizes classical results of Serre on universal morphisms from algebraic varieties to abelian varieties. Our proof relies on corresponding facts for the proper case, together with the structural properties of group schemes, removal of singularities by alterations, and ind-objects. It turns out that the formation of the Albanese variety commutes with base-change up to universal homeomorphisms. We also give a detailed analysis of Albanese maps for algebraic curves and algebraic groups, with special emphasis on imperfect ground fields.
Crowdfunding as a Market-Fostering Gift System
Authors: Maciel Andre F , Weinberger Michelle F 
Published: September 2023

Abstract
Reward-based crowdfunding has enabled an unprecedented number of consumers to provision capital for commercial and artistic ventures. Each year, consumers use digital platforms to transfer billions of dollars to entrepreneurs and artists to help them develop a wide range of market innovations. Notably, these consumers obtain no financial benefits, no formal guarantee that their money will be used aptly, and no reimbursement options. Under such materially unfavorable conditions, why do consumers transfer their money to these producers? The present research answers this question by introducing the concept of a “market-fostering gift system”: a social contract that entices consumers to fund the creation and enhancement of market offerings by mobilizing the logic and practices of gift-giving. This conceptualization includes the core stakeholders, processes, outcomes, and shortcomings of reward-based crowdfunding, providing theoretical structure to this consequential articulation of platform capitalism. In addition, this conceptualization advances theory about how gift and market economies intersect. Whereas previous research emphasizes the tensions that characterize their interface, this article brings to the fore the complementary, scalable relationship between gift-giving and market exchange.
A reference genome assembly for the continentally distributed ring-necked snake, Diadophis punctatus
Authors: Westeen Erin P , Escalona Merly , Beraut Eric , Marimuthu Mohan P A , Nguyen Oanh , Fisher Robert N , Toffelmier Erin , Shaffer H Bradley , Wang Ian J 
Published: September 2023

Abstract
Snakes in the family Colubridae include more than 2,000 currently recognized species, and comprise roughly 75% of the global snake species diversity on Earth. For such a spectacular radiation, colubrid snakes remain poorly understood ecologically and genetically. Two subfamilies, Colubrinae (788 species) and Dipsadinae (833 species), comprise the bulk of colubrid species richness. Dipsadines are a speciose and diverse group of snakes that largely inhabit Central and South America, with a handful of small-body-size genera that have invaded North America. Among them, the ring-necked snake, Diadophis punctatus, has an incredibly broad distribution with 14 subspecies. Given its continental distribution and high degree of variation in coloration, diet, feeding ecology, and behavior, the ring-necked snake is an excellent species for the study of genetic diversity and trait evolution. Within California, six subspecies form a continuously distributed “ring species” around the Central Valley, while a seventh, the regal ring-necked snake, Diadophis punctatus regalis is a disjunct outlier and Species of Special Concern in the state. Here, we report a new reference genome assembly for the San Diego ring-necked snake, D. p. similis, as part of the California Conservation Genomics Project. This assembly comprises a total of 444 scaffolds spanning 1,783 Mb and has a contig N50 of 8.0 Mb, scaffold N50 of 83 Mb, and BUSCO completeness score of 94.5%. This reference genome will be a valuable resource for studies of the taxonomy, conservation, and evolution of the ring-necked snake across its broad, continental distribution.
Pelvic tilt after Bernese periacetabular osteotomy—a long-term follow-up study
Authors: Heimann Alexander F , Brouze Iris F , Zheng Guoyan , Moosmann Angela M , Schwab Joseph M , Tannast Moritz , Zurmühle Corinne A 
Published: September 2023

ABSTRACT
Patients with developmental dysplasia of the hip (DDH) are believed to present with increased anterior pelvic tilt to compensate for reduced anterior femoral head coverage. If true, pelvic tilt in dysplastic patients should be high preoperatively and decrease after correction with periacetabular osteotomy (PAO). To date, the evolution of pelvic tilt in long-term follow-up after PAO has not been reported. We therefore asked the following questions: (i) is there a difference in pelvic tilt between patients with DDH and an asymptomatic control group? (ii) How does pelvic tilt evolve during long-term follow-up after Bernese PAO compared with before surgery? This study is a therapeutic study with the level of evidence III. We retrospectively compared preoperative pelvic tilt in 64 dysplastic patients (71 hips) with an asymptomatic control group of 20 patients (20 hips). In addition, immediate postoperative and long-term follow-up (at 18 ± 8 [range 7–34 years) pelvic tilt was assessed and compared. Dysplastic patients had a significantly higher mean preoperative pelvic tilt than controls [2.3 ± 5.3° (−11.2° to 16.4°) versus 1.1 ± 3.0° (−4.9 to 5.9), P = 0.006]. Mean pelvic tilt postoperatively was 1.5 ± 5.3° (−11.2 to 17.0º, P = 0.221) and at long-term follow-up was 0.4 ± 5.7° (range −9.9° to 20.9°, P = 0.002). Dysplastic hips undergoing PAO show a statistically significant decrease in pelvic tilt during long-term follow-up. However, given the large interindividual variability in pelvic tilt, the observed differences may not achieve clinical significance.