Miracle-dz/UniFAR-FTUs huggingface dataset:
Combining multivariate genomic approaches to elucidate the comorbidity between autism spectrum disorder and attention deficit hyperactivity disorder.

BACKGROUND Attention deficit hyperactivity disorder (ADHD) and autism spectrum disorder (ASD) are two highly heritable neurodevelopmental disorders. Several lines of evidence point towards the presence of shared genetic factors underlying ASD and ADHD. We conducted genomic analyses of common risk variants (i.e. single nucleotide polymorphisms, SNPs) shared by ASD and ADHD, and those specific to each disorder. METHODS With the summary data from two GWAS, one on ASD (N = 46,350) and another on ADHD (N = 55,374) individuals, we used genomic structural equation modelling and colocalization analysis to identify SNPs shared by ASD and ADHD and SNPs specific to each disorder. Functional genomic analyses were then conducted on shared and specific common genetic variants. Finally, we performed a bidirectional Mendelian randomization analysis to test whether the shared genetic risk between ASD and ADHD was interpretable in terms of reciprocal relationships between ASD and ADHD. RESULTS We found that 37.5% of the SNPs associated with ASD (at p < 1e-6) colocalized with ADHD SNPs and that 19.6% of the SNPs associated with ADHD colocalized with ASD SNPs. We identified genes mapped to SNPs that are specific to ASD or ADHD and that are shared by ASD and ADHD, including two novel genes INSM1 and PAX1. Our bidirectional Mendelian randomization analyses indicated that the risk of ASD was associated with an increased risk of ADHD and vice versa. CONCLUSIONS Using multivariate genomic analyses, the present study uncovers shared and specific genetic variants associated with ASD and ADHD. Further functional investigation of genes mapped to those shared variants may help identify pathophysiological pathways and new targets for treatment.
Does adding beer to coffee enhance the activation of drinks? An ERP study of semantic category priming

ABSTRACT Categorization – whether of objects, ideas, or events – is a cognitive process that is essential for human thinking, reasoning, and making sense of everyday experiences. Categorization abilities are typically measured by the Wechsler Adult Intelligence Scale (WAIS) similarity subtest, which consists of naming the shared category of two items (e.g., ‘How are beer and coffee alike’). Previous studies show that categorization, as measured by similarity tasks, requires executive control functions. However, other theories and studies indicate that semantic memory is organized into taxonomic and thematic categories that can be activated implicitly in semantic priming tasks. To explore whether categories can be primed during a similarity task, we developed a double semantic priming paradigm. We measured the priming effect of two primes on a target word that was taxonomically or thematically related to both primes (double priming) or only one of them (single priming). Our results show a larger and additive priming effect in the double priming condition compared to the single priming condition, as measured by both response times and, more consistently, event-related potentials. Our results support the view that taxonomic and thematic categorization can occur during a double priming task and contribute to improving our knowledge on the organization of semantic memory into categories. These findings show how abstract categories can be activated, which likely shapes the way we think and interact with our environment. Our study also provides a new cognitive tool that could be useful to understand the categorization difficulties of neurological patients.
The Display of Medical Information: Content, Format, and Subjective Experience

Objectives: To address a gap in the literature by investigating the subjective experience of participants to the form and content of medical information displayed in a healthcare setting. Background: Artwork can enhance the experience of patients, but much less is known about how individuals react to displays of medical information in the form of posters or pamphlets, especially those about unsettling conditions (e.g., skin cancer). Methods: In a 2 × 2 × 2 between-subjects design, researchers investigated the content of medical information (skin cancer vs. skin care) that was on display in a simulated exam room, whether the form was a pamphlet or a poster, and reason for the visit (routine annual skin check or evaluating a mole) on measures of subjective experience, including anxiety. Results: Viewing material about skin cancer produced greater anxiety and greater arousal than did viewing material about sunscreen, and given the choice of four images (pamphlet and poster for sunscreen, pamphlet and poster for skin cancer), the sunscreen poster was recommended to improve the patient’s experience and lower stress. In terms of display format, posters are judged to provide more visual engagement than are pamphlets. Conclusions: Exam rooms should offer multiple opportunities for visual engagement without images that produce anxiety. More research is needed to understand the subjective experience of the patient’s interaction with the content and format of medical information.
Longitudinal Relations between Rejection Sensitivity and Adjustment in Chinese Children: Moderating Effect of Emotion Regulation

Abstract The goal of the present study was to examine the moderating effect of emotion regulation in the longitudinal relations between rejection sensitivity and indices of adjustment among Chinese children. Participants were N = 590 children (M age = 11.25 years, SD = 1.33) attending public elementary and middle schools in Shanghai, P.R. China. Measures of anxious rejection sensitivity and socio-emotional functioning were collected via self-reports and peer nominations. Among the results, rejection sensitivity significantly predicted higher levels of later internalizing problems. Moreover, emotion regulation significantly moderated (i.e. buffering effect) the relations between rejection sensitivity and later peer and emotional difficulties. The current findings suggest that rejection sensitivity poses developmental risk over time, but emotion regulation may serve as a protective factor for Chinese youth. Results are discussed in terms of the implications of rejection sensitivity and emotion regulation in Chinese culture.
Relationships of physical activity and sedentary behaviour with the previous and subsequent nights’ sleep in children and youth: A systematic review and meta‐analysis

The interrelationships between sleep and daytime movement behaviours have been examined at interindividual level. Studies of within‐person, temporal relationships of daytime physical activity (PA) and sedentary behaviour with the previous and subsequent nights’ sleep are increasing. The present systematic review and meta‐analysis synthesised the results of studies in school‐aged children and youth. Eight databases (MEDLINE, PsycINFO, EMBASE, Global Health, PubMed, Web of Science, SPORTDiscus, and CINAHL) were searched for peer‐reviewed articles that examined the association between daytime movement behaviours (including PA, sedentary time, or sedentary recreational screen time) and night‐time sleep on the same day, or the association between night‐time sleep and daytime movement behaviours the next day, in children and youth. A total of 11 studies comprising 9,622 children and youth aged 5–15 years met the inclusion criteria. Sedentary time was negatively associated with the subsequent night’s sleep duration (r = −0.12, 95% confidence interval −0.23 to −0.00; I2 = 93%; p = .04). Positive relationships between PA and the previous or subsequent night’s sleep duration were observed only for studies that adjusted for accelerometer wear time. There was some evidence suggesting that a longer sleep duration was associated with less sedentary time and a higher proportion of the daytime spent being physically active and vice versa, although the association was weak and based on a limited number of studies. From a clinical perspective, promotion of either sleep hygiene or daytime PA should be planned with considerations of the virtuous or vicious circle between these behaviours and monitor concurrent effects on the others.
Passive Recovery Strategies after Exercise: A Narrative Literature Review of the Current Evidence

Abstract Passive recovery techniques are popular and offer a diverse spectrum of options for athletes and the clinicians providing care for them. These techniques are intended to minimize the negative effects of training or competition, thus enabling the athlete a quicker return to peak performance. Current evidence demonstrates improved athlete recovery with compression garments, cold water immersion, partial body cryotherapy, hyperbaric oxygen, and vibratory therapies. Other popular modalities, such as compression devices, whole body cryotherapy, percussive gun-assisted therapy, neuromuscular electrical stimulation, and pulsed electromagnetic therapy lack convincing evidence concerning athlete recovery. This article seeks to review the current literature and offer the reader an updated understanding of the mechanisms for each modality and the evidence regarding each modality's potential benefit in an athlete's recovery strategy.
Acceptability of COVID-19 vaccination in Saudi Arabia: A cross-sectional study using a web-based survey

ABSTRACT The success of COVID-19 vaccination depends on individual’s vaccine acceptance. There has been misinformation on the media that doubts its effectiveness, safety, and long-term risk. Such controversy could affect the acceptance toward the uptake of the COVID-19 vaccine. The objective of this study was to assess the factors influencing the acceptance and hesitancy toward the COVID-19 vaccine in Saudi Arabia. A cross-sectional study was conducted. An online survey was conducted with four parameters: Demographics, medical history, knowledge and information sources about COVID-19 and vaccine, and hesitancy/acceptance of vaccinations. Bivariate analysis between several survey items and the acceptance of COVID-19 vaccine was conducted using Chi-square test. Logistic regression was used to assess to what degree each variable affects the acceptance and the hesitancy toward the COVID-19 vaccine. Approximately 64% show a desire to accept the vaccine while 18.3% were extremely hesitant to take the vaccine. Non-demographic factors that were associated with the acceptance toward the COVID-19 vaccine were the source of health information about COVID-19 (OR:1.63; 95% CI:1.07–2.47), perception toward whether the vaccine is effective on other variants of the virus (OR:7.24; 95% CI:4.58–11.45), previous uptake of the influenza vaccine (OR:1.62; 95% CI:1.07–2.47), and potential mandatory of vaccination in order to travel internationally (OR:16.52; 95% CI:10.23–26.68). This study provides an insight into factors – other than the sociodemographic – influencing the acceptance of the COVID-19 vaccine in Saudi Arabia. The government should address the COVID-19-related misinformation and rumors to increase acceptance of COVID-19 vaccination.
Early diagnosis of amyotrophic lateral sclerosis by threshold tracking and conventional transcranial magnetic stimulation

Short‐interval intracortical inhibition by threshold tracking (T‐SICI) has been proposed as a diagnostic tool for amyotrophic lateral sclerosis (ALS) but has not been compared directly with conventional amplitude measurements (A‐SICI). This study compared A‐SICI and T‐SICI for sensitivity and clinical usefulness as biomarkers for ALS.
Sexually transmitted infections among HIV serodiscordant partners: A secondary analysis of HIV Prevention Trial Network 052

Sexually transmitted infections (STIs) remain a public health concern because of their interaction(s) with HIV. In the HPTN 052 study, STIs were evaluated in both HIV-positive index cases and their HIV-negative partners at enrollment and at yearly follow-up visits. Our definition for STI was based on any infection with Chlamydia trachomatis, Neisseria gonorrhoeae, syphilis, or Trichomonas vaginalis. We used log-binomial regression models to identify factors associated with prevalent STIs. Generalized estimating equation models with the Poisson distribution were used to compare STI incidence between HIV-positive index cases and HIV-negative partners. 8.1% of the participants had STIs at enrollment. The prevalence of STIs (8.9 vs. 7.2) was higher in HIV-positive index cases than HIV-negative partners. Being female (prevalence ratio (PR) = 1.61; 95% CI: 1.20–2.16) or unmarried (PR = 1.92; 95% CI: 1.17–3.14) was associated with prevalent STIs. Compared to HIV-negative male partners, HIV-positive female index cases had a higher risk of STI acquisition (incidence rate ratio (IRR) = 2.25; 95% CI: 1.70–2.97). While we are implementing HIV prevention interventions for HIV-negative people, we should also intensify targeted STI prevention interventions, especially among HIV-positive women.
Fast whole‐body motor neuron calcium imaging of freely moving Caenorhabditis elegans without coverslip pressed

Caenorhabditis elegans (C. elegans) is an ideal model organism for studying neuronal functions at the system level. This article develops a customized system for whole‐body motor neuron calcium imaging of freely moving C. elegans without the coverslip pressed. Firstly, we proposed a fast centerline localization algorithm that could deal with most topology‐variant cases costing only 6 ms for one frame, not only benefits for real‐time localization but also for post‐analysis. Secondly, we implemented a full‐time two‐axis synchronized motion strategy by adaptively adjusting the motion parameters of two motors in every short‐term motion step (~50 ms). Following the above motion tracking configuration, the tracking performance of our system has been demonstrated to completely support the high spatiotemporal resolution calcium imaging on whole‐body motor neurons of wild‐type (N2) worms as well as two mutants (unc‐2, unc‐9), even the instantaneous speed of worm moving without coverslip pressed was extremely up to 400 μm/s.
A homozygous stop-gain variant in ARHGAP42 is associated with childhood interstitial lung disease, systemic hypertension, and immunological findings

ARHGAP42 encodes Rho GTPase activating protein 42 that belongs to a member of the GTPase Regulator Associated with Focal Adhesion Kinase (GRAF) family. ARHGAP42 is involved in blood pressure control by regulating vascular tone. Despite these findings, disorders of human variants in the coding part of ARHGAP42 have not been reported. Here, we describe an 8-year-old girl with childhood interstitial lung disease (chILD), systemic hypertension, and immunological findings who carries a homozygous stop-gain variant (c.469G>T, p.(Glu157Ter)) in the ARHGAP42 gene. The family history is notable for both parents with hypertension. Histopathological examination of the proband lung biopsy showed increased mural smooth muscle in small airways and alveolar septa, and concentric medial hypertrophy in pulmonary arteries. ARHGAP42 stop-gain variant in the proband leads to exon 5 skipping, and reduced ARHGAP42 levels, which was associated with enhanced RhoA and Cdc42 expression. This is the first report linking a homozygous stop-gain variant in ARHGAP42 with a chILD disorder, systemic hypertension, and immunological findings in human patient. Evidence of smooth muscle hypertrophy on lung biopsy and an increase in RhoA/ROCK signaling in patient cells suggests the potential mechanistic link between ARHGAP42 deficiency and the development of chILD disorder.
Reconfiguring graphene to achieve intrinsic negative Poisson’s ratio and strain-tunable bandgap

A new two-dimensional carbon-based material consisting of pentagonal and hexagonal elements is identified by numerical experiments, which is called phgraphene and possesses not only a tunable semimetallic feature but also a direction-dependent even sign-changed Poisson’s ratio. The structural stability of such a new material is first checked systematically. It is found that phgraphene has a similar energy as the γ-graphyne, a thermally stable structure from the room temperature to 1500 K, and elastic constants satisfying the Born–Huang criterion. Both the band structure and density of states are further verified with different techniques, which demonstrate a Dirac semimetallic characteristic of phgraphene. A more interesting finding is that the band structure can be easily tuned by an external loading, resulting in the transition from semimetal to semiconductor or from type I to type III. As a new material that may be applied in the future, the mechanical property of phgraphene is further evaluated. It shows that phgraphene is a typically anisotropic material, which has not only direction-dependent Young’s moduli but also direction-dependent even sign-changed Poisson’s ratios. The microscopic mechanisms of both the electrical and mechanical properties are revealed. Such a versatile material with tunable band structure and auxetic effect should have promising applications in the advanced nano-electronic field in the future.
Molecular mechanism of microRNA-26a regulation of phosphatase and tensin homolog gene in condyloma acuminatum and penile squamous cell carcinoma

Objective To investigate the expression levels and mechanisms of microRNA (miRNA) 26a (miR-26a) and phosphatase and tensin homolog (PTEN) in patients with human papillomavirus (HPV)-induced condyloma acuminatum (CA) and penile squamous cell carcinoma (PSCC). Methods Thirty-one patients with HPV-positive CA and 28 with HPV-positive PSCC were included in this retrospective, cross-sectional study. PTEN mRNA and miR-26a levels in lesion tissues, blood, and urine were analyzed by quantitative reverse transcription polymerase chain reaction, and PTEN protein was detected by western blot and enzyme-linked immunosorbent assay. Cell proliferation was assessed by MTT assay. The interaction between miR-26a and PTEN was predicted by bioinformatics analysis and confirmed by dual luciferase reporter assay Results PTEN mRNA and protein levels were significantly lower and miR-26a levels were significantly higher in all samples from patients with PSCC compared with the CA group. Bioinformatics analysis and luciferase reporter assay confirmed PTEN as a target gene of miR-26a. Up-regulation of miR-26a significantly increased the proliferation of Penl1 PSCC cells. Conclusions PTEN expression is down-regulated and miR-26a levels are up-regulated in PSCC compared with CA. PTEN is a direct target gene of miR-26a. These results suggest that miR-26a might regulate HPV-positive progression from CA to PSCC through modulating PTEN.
Examining the possible causal relationship between lung function, COPD and Alzheimer’s disease: a Mendelian randomisation study

Rationale Large retrospective case-control studies have reported an association between chronic obstructive pulmonary disease (COPD), reduced lung function and an increased risk of Alzheimer’s disease. However, it remains unclear if these diseases are causally linked, or due to shared risk factors. Conventional observational epidemiology suffers from unmeasured confounding and reverse causation. Additional analyses addressing causality are required. Objectives To examine a causal relationship between COPD, lung function and Alzheimer’s disease. Methods Using two-sample Mendelian randomisation, we used single nucleotide polymorphisms (SNPs) identified in a genome wide association study (GWAS) for lung function as instrumental variables (exposure). Additionally, we used SNPs discovered in a GWAS for COPD in those with moderate to very severe obstruction. The effect of these SNPs on Alzheimer’s disease (outcome) was taken from a GWAS based on a sample of 24 807 patients and 55 058 controls. Results We found minimal evidence for an effect of either lung function (OR: 1.02 per SD; 95% CI 0.91 to 1.13; p value 0.68) or liability for COPD on Alzheimer’s disease (OR: 0.97 per SD; 95% CI 0.92 to 1.03; p value 0.40). Conclusion Neither reduced lung function nor liability COPD are likely to be causally associated with an increased risk of Alzheimer’s, any observed association is likely due to unmeasured confounding. Scientific attention and health prevention policy may be better focused on overlapping risk factors, rather than attempts to reduce risk of Alzheimer’s disease by targeting impaired lung function or COPD directly.
A scoping review of stereotype threat for BIPOC: Cognitive effects and intervention strategies for the field of neuropsychology

Abstract Objective Abundant evidence documents stereotype threat’s (ST) detrimental effect on test performance across identities and contexts (i.e., eliciting underperformance). Review of the literature shows varied aspects of both stereotyped identities and cognition are inconsistently explored across studies. Only a portion of the literature focuses on ST’s impact on Black, Indigenous, and People of Color (BIPOC). It is important to understand and learn to mitigate ST, particularly for historically marginalized and systemically oppressed BIPOC patients. Relevance exists for neuropsychologists, who engage in activities (i.e., assessments) that may activate ST, and should be aware of additional factors impacting testing results and clinical decision making. Method Using scoping review criteria (Peters et al., 2015) and Preferred Reporting Item for Systemic Reviews and Meta-Analysis (PRISMA) guidelines, we reviewed literature across multiple databases (Google Scholar, PubMed, PsychINFO) on ST and cognition with a focus on BIPOC. Results The current literature suggests that race-based ST may be implicated in underperformance for executive functioning and separately working memory. There is limited research on the effects of ST for memory, language, attention, and visuospatial skills. Conclusion Research on ST requires additional attention to establish interventions to mitigate negative effects in practice. These results provide 1) an overview of the cognitive implications of ST, 2) address the scope of this impact for BIPOC, and 3) provide possible intervention and training strategies for neuropsychologists and other clinicians to work to mitigate the effects of ST on BIPOC.
Experimental method to quantify the ring size distribution in silicate glasses and simulation validation thereof

Ring size distribution of silicate glass can be determined from the first sharp diffraction peak of neutron structure factor. Silicate glasses have no long-range order and exhibit a short-range order that is often fairly similar to that of their crystalline counterparts. Hence, the out-of-equilibrium nature of glasses is largely encoded in their medium-range order. However, the ring size distribution—the key feature of silicate glasses’ medium-range structure—remains invisible to conventional experiments and, hence, is largely unknown. Here, by combining neutron diffraction experiments and force-enhanced atomic refinement simulations for two archetypical silicate glasses, we show that rings of different sizes exhibit a distinct contribution to the first sharp diffraction peak in the structure factor. On the basis of these results, we demonstrate that the ring size distribution of silicate glasses can be determined solely from neutron diffraction patterns, by analyzing the shape of the first sharp diffraction peak. This method makes it possible to uncover the nature of silicate glasses’ medium-range order.
Transport properties of saline CO 2 storage reservoirs with 1 unconnected fractures from brine-CO 2 flow-through tests 2 by 3

by 3 Andrea Muñoz-Ibáñeza* 4 Ismael Himar Falcon-Suarezb 5 Héctor Marín-Morenob 6 Jordi Delgado-Martína 7 & 8 Peter Mackinc 9 10 11 aSchool of Civil Engineering, University of A Coruña, Campus de Elviña s/n, 15071 12 A Coruña, Spain 13 bNational Oceanography Centre, University of Southampton Waterfront Campus. 14 European Way, SO14 3ZH, Southampton, United Kingdom. 15 cUniversity of Southampton, Ocean and Earth Science, Southampton, SO14 3ZH, 16 UK 17 18