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PLoS Genetics Jun 2024The control of transcription is crucial for homeostasis in mammals. A previous selective sweep analysis of horse racing performance revealed a 19.6 kb candidate...
The control of transcription is crucial for homeostasis in mammals. A previous selective sweep analysis of horse racing performance revealed a 19.6 kb candidate regulatory region 50 kb downstream of the Endothelin3 (EDN3) gene. Here, the region was narrowed to a 5.5 kb span of 14 SNVs, with elite and sub-elite haplotypes analyzed for association to racing performance, blood pressure and plasma levels of EDN3 in Coldblooded trotters and Standardbreds. Comparative analysis of human HiCap data identified the span as an enhancer cluster active in endothelial cells, interacting with genes relevant to blood pressure regulation. Coldblooded trotters with the sub-elite haplotype had significantly higher blood pressure compared to horses with the elite performing haplotype during exercise. Alleles within the elite haplotype were part of the standing variation in pre-domestication horses, and have risen in frequency during the era of breed development and selection. These results advance our understanding of the molecular genetics of athletic performance and vascular traits in both horses and humans.
Topics: Horses; Animals; Humans; Blood Pressure; Athletic Performance; Haplotypes; Endothelin-3; Polymorphism, Single Nucleotide; Alleles; Male; Endothelial Cells
PubMed: 38885195
DOI: 10.1371/journal.pgen.1011285 -
JMIR Formative Research Jun 2024The start of the COVID-19 pandemic resulted in the implementation of nonpharmaceutical interventions by US institutions of higher education at an unprecedented level....
BACKGROUND
The start of the COVID-19 pandemic resulted in the implementation of nonpharmaceutical interventions by US institutions of higher education at an unprecedented level. During the backdrop of an emerging pandemic, younger adults (eg, college students) had an overall lower risk for severe outcomes for SARS-CoV-2, making this population a potential source of transmission for age groups with high susceptibility and negative health outcomes. We examine how college students' level of concern for COVID-19 was influenced by different sources of information, their living status, income level, and other demographic identifiers and its association with prevention behavior change.
OBJECTIVE
We sought to examine the level of concern, defined as the extent to which the participant would take corrective action to mitigate contracting or spreading the virus (to family or friends) by using personal protective equipment such as a face mask, practicing social distancing, and following other public health recommendations, among college students during the COVID-19 pandemic.
METHODS
A cross-sectional, web-based survey was conducted in 2021 among 185 college students aged 18-41 years, with most living in New York City and the United States (n=134, 72.4%). Out of 185 college students, 94 provided their zip codes, with 51 of those college students indicating they lived in New York City areas. The participants completed the survey via a QR code. Study participants who did not complete the full survey or were not college students in any US college or university were excluded. Analyses were conducted using R (version 4.2.2; R Foundation for Statistical Computing).
RESULTS
Of 185 respondents participated in the study, 25 (13.5.%) used emails from their schools, 51 (27.6%) used mainstream media, and 109 (58.9%) used social media and other sources to obtain information about COVID-19. Of the 109 participants who learned about the pandemic from social media, 91 (83.5%) were concerned; however, only 63% (32/51) and 60% (15/25) of the participants who sourced information from mainstream media and their schools' email, respectively, were concerned. Further, the participants who received information from social media and other sources were about 3 times more likely to be concerned about COVID-19 than participants who received information from the university via email (P=.036; OR=3.07, 95% CI: 1.06-8.83)..
CONCLUSIONS
College students who received information from social media and other sources were more likely to be concerned about COVID-19 than students who received information from their school via emails.
PubMed: 38885019
DOI: 10.2196/51292 -
Journal of Medical Education and... 2024To reduce health inequities for lesbian, gay, bisexual, transgender, queer, intersex, asexual, and all sexually and gender diverse (LGBTQIA+) people, healthcare...
OBJECTIVES
To reduce health inequities for lesbian, gay, bisexual, transgender, queer, intersex, asexual, and all sexually and gender diverse (LGBTQIA+) people, healthcare professionals need increased access to education and training resources on LGBTQIA + health. Web-based, asynchronous, electronic learning (e-learning) resources are critical for expanding the availability of LGBTQIA + health programs. This article presents the design and utilization outcomes of a novel e-learning platform for engaging healthcare professionals in LGBTQIA + health online continuing education.
METHODS
As of December 2022, the e-learning platform consisted of 293 resources within 17 topic domains. Modalities included: learning modules, recorded webinars, publications, videos, and toolkits. We conducted a descriptive analysis of the e-learning platform's website traffic and user engagement data. Google Universal Analytics and event tracking were used to measure website traffic, user locations, and publication downloads. Learning module and webinar completions were exported from the learning management system and run as frequencies.
RESULTS
Between January 1, 2020, and December 31, 2022, over 650,000 people from all U.S. states, 182 countries, and 31 territories visited the website. Platform users downloaded publications 66,225 times, and completed 29,351 learning modules and 24,654 webinars.
CONCLUSION
The broad reach and high user engagement of the e-learning platform indicate acceptability of web-based, asynchronous online continuing education in LGBTQIA + health, and suggest that this platform is filling a need in health professional education. Remote, online learning opportunities may be especially important in jurisdictions with bans on medical care for transgender and gender diverse youth. Future growth of the platform, paired with in-person and other online learning opportunities, has the potential to reduce gaps in LGBTQIA + health training, and mitigate LGBTQIA + health inequities.
PubMed: 38882028
DOI: 10.1177/23821205241262212 -
SAGE Open Medicine 2024Losing independence is a main concern for hip fracture patients, and particularly not being able to return home. Given the large impact on quality of life by loss of...
Association between institutionalization by 4 months post-discharge walking capacity and lean body mass in elderly hip fracture patients: Evidence from a Swedish Registry Based Study.
BACKGROUND AND PURPOSE
Losing independence is a main concern for hip fracture patients, and particularly not being able to return home. Given the large impact on quality of life by loss of independence and the high risk for institutionalization after hip fracture, it is of importance to identify modifiable risk factors for such negative outcomes. This study aimed to investigate the association between two such factors, that is, lean body mass and 4 months post-discharge walking capacity, and the risk of institutionalization in previously independent living older people who suffer a hip fracture.
PATIENTS AND METHODS
A retrospective cohort study was conducted using Swedish national-based population registers. Patients ⩾60 years with a hip fracture during 2008-2017 were included from the Swedish National Registry for Hip Fractures. Risk of institutionalization over the 1-year period following a hip fracture was analyzed using logistic regression analyses adjusted for potential predictors and characteristics.
RESULTS
In total, 11,265 patients were included. Over the first year, 8% (95% CI: 8-9) of the patients with a hip fracture had lost independence, increasing to 15% (95% CI: 14-16) after 5 years. Poor recovery of post-discharge walking ability was associated with a higher odds ratio of losing independence compared with good recovery (OR 12.0; 95% CI: 7.8-18.4; < 0.001). Having higher estimated lean body mass than 45 kg at index was associated with lower odds of losing independence.
CONCLUSION
Maintaining lean body mass and mobility after a hip fracture is likely important from an individual as well as public health perspective.
PubMed: 38881593
DOI: 10.1177/20503121241258409 -
EBioMedicine Jun 2024T-cell immune infiltrates are robust prognostic variables in localised colon cancer. Evaluation of prognosis using artificial intelligence is an emerging field. We...
Machine learning evaluation of immune infiltrate through digital tumour score allows prediction of survival outcome in a pooled analysis of three international stage III colon cancer cohorts.
BACKGROUND
T-cell immune infiltrates are robust prognostic variables in localised colon cancer. Evaluation of prognosis using artificial intelligence is an emerging field. We evaluated whether machine learning analysis improved prediction of patient outcome in comparison with analysis of T cell infiltrate only or in association with clinical variables.
METHODS
We used data from two phase III clinical trials (Prodige-13 and PETACC08) and one retrospective Italian cohort (HARMONY). Cohorts were split into training (N = 692), internal validation (N = 297) and external validation (N = 672) sets. Tumour slides were stained with CD3mAb. CD3 Machine Learning (CD3ML) score was computed using graphical parameters within the tumour tiles obtained from CD3 slides. CD3 infiltrates in tumour core and invasive margin were automatically detected. Associations of CD3 infiltrates and CD3ML with 5-year Disease-Free Survival (DFS) were examined using univariate and multivariable survival models by Cox regression.
FINDINGS
CD3 density both in the invasive margin and the tumour core were significantly associated with DFS in the different sets. Similarly, CD3ML score was significantly associated with DFS in all sets. CD3 assessment did not provide added value on top of CD3ML assessment (Likelihood Ratio Test (LRT), p = 0.13). In contrast, CD3ML improved prediction of DFS when combined with a clinical risk stage (LRT, p = 0.001). Stratified by clinical risk score (High or Low), patients with low CD3ML score had better DFS.
INTERPRETATION
In all tested sets, machine learning analysis of tumour cells improved prediction of prognosis compared to clinical parameters. Adding tumour-infiltrating lymphocytes assessment did not improve prognostic determination.
FUNDING
This research received no external funding.
PubMed: 38880067
DOI: 10.1016/j.ebiom.2024.105207 -
NPJ Digital Medicine Jun 2024Exergaming is a combination of exercise and gaming. Evidence shows an association between exercise and cognition in older people. However, previous studies showed... (Review)
Review
Exergaming is a combination of exercise and gaming. Evidence shows an association between exercise and cognition in older people. However, previous studies showed inconsistent results on the cognitive benefits of exergaming in people with cognitive impairment. Therefore, this study aims to examine the effect of exergaming intervention on cognitive functions in people with MCI or dementia. A systematic literature search was conducted via OVID databases. Randomized controlled trials (RCTs) examined the effect of an exergaming intervention on cognitive functions in people with MCI or dementia were included. Subgroup analyses were conducted according to the type of intervention and training duration. Twenty RCTs with 1152 participants were identified, including 14 trials for MCI and 6 trials for dementia. In people with MCI, 13 studies used virtual-reality (VR)-based exergaming. Those who received VR-based exergaming showed significantly better global cognitive function [SMD (95%CI) = 0.67 (0.23-1.11)], learning and memory [immediate recall test: 0.79 (0.31-1.27); delayed recall test: 0.75 (0.20-1.31)], working memory [5.83 (2.27-9.39)], verbal fluency [0.58 (0.12-1.03)], and faster in executive function than the controls. For people with dementia, all studies used video-based exergaming intervention. Participants with exergaming intervention showed significantly better global cognitive function than the controls [0.38 (0.10-0.67)]. Subgroup analyses showed that longer training duration generated larger effects. The findings suggest that exergaming impacts cognitive functions in people with MCI and dementia. Cognitive benefits are demonstrated for those with a longer training duration. With technological advancement, VR-based exergaming attracts the attention of people with MCI and performs well in improving cognitive functions.
PubMed: 38879695
DOI: 10.1038/s41746-024-01142-4 -
Lancet (London, England) Jun 2024Persistent physical symptoms (synonymous with persistent somatic symptoms) is an umbrella term for distressing somatic complaints that last several months or more,... (Review)
Review
Persistent physical symptoms (synonymous with persistent somatic symptoms) is an umbrella term for distressing somatic complaints that last several months or more, regardless of their cause. These symptoms are associated with substantial disability and represent a major burden for patients, health-care professionals, and society. Persistent physical symptoms can follow infections, injuries, medical diseases, stressful life events, or arise de novo. As symptoms persist, their link to clearly identifiable pathophysiology often weakens, making diagnosis and treatment challenging. Multiple biological and psychosocial risk factors and mechanisms contribute to the persistence of somatic symptoms, including persistent inflammation; epigenetic profiles; immune, metabolic and microbiome dysregulation; early adverse life experiences; depression; illness-related anxiety; dysfunctional symptom expectations; symptom focusing; symptom learning; and avoidance behaviours, with many factors being common across symptoms and diagnoses. Basic care consists of addressing underlying pathophysiology and using person-centred communication techniques with validation, appropriate reassurance, and biopsychosocial explanation. If basic care is insufficient, targeted psychological and pharmacological interventions can be beneficial. A better understanding of the multifactorial persistence of somatic symptoms should lead to more specific, personalised, and mechanism-based treatment, and a reduction in the stigma patients commonly face.
Topics: Humans; Medically Unexplained Symptoms; Somatoform Disorders; Risk Factors
PubMed: 38879263
DOI: 10.1016/S0140-6736(24)00623-8 -
Cortex; a Journal Devoted To the Study... May 2024Hebb repetition learning (HRL) refers to neurodevelopmental processes characterised by repeated stimulus exposure without feedback, which result in changes in behaviour...
Hebb repetition learning (HRL) refers to neurodevelopmental processes characterised by repeated stimulus exposure without feedback, which result in changes in behaviour and/or responses, e.g., long-term learning of serial order. Here, we investigate effects of HRL on serial order memory. The present research aimed to assess the reliability of new HRL measures and investigate their relationships with language and reading skills (vocabulary, grammar, word reading) in adolescents with intellectual disability (ID). A comparison group of children of similar mental age with typical development (TD) was also assessed. ID and TD groups were tested on HRL tasks, evaluating test-retest and split-half reliability. The relationship between HRL and language and reading was analysed after accounting for the influence of mental age and verbal short-term memory. The HRL tasks displayed moderate test-retest (and split-half) reliability, HRL tasks with different stimuli (verbal, visual) were related, and we identified issues with one method of HRL scoring. The planned regression analyses failed to show relationships between HRL and language/reading skills in both groups when mental age, a very strong predictor, was included. However, further exploratory regression analyses without mental age revealed HRL's predictive capabilities for vocabulary in the ID group and reading in the TD group, results which need further investigation and replication. HRL displays promise as a moderately reliable metric and exhibits varied and interpretable predictive capabilities for language and reading skills across groups.
PubMed: 38878338
DOI: 10.1016/j.cortex.2024.05.012 -
BMC Bioinformatics Jun 2024The exploration of gene-disease associations is crucial for understanding the mechanisms underlying disease onset and progression, with significant implications for...
BACKGROUND
The exploration of gene-disease associations is crucial for understanding the mechanisms underlying disease onset and progression, with significant implications for prevention and treatment strategies. Advances in high-throughput biotechnology have generated a wealth of data linking diseases to specific genes. While graph representation learning has recently introduced groundbreaking approaches for predicting novel associations, existing studies always overlooked the cumulative impact of functional modules such as protein complexes and the incompletion of some important data such as protein interactions, which limits the detection performance.
RESULTS
Addressing these limitations, here we introduce a deep learning framework called ModulePred for predicting disease-gene associations. ModulePred performs graph augmentation on the protein interaction network using L3 link prediction algorithms. It builds a heterogeneous module network by integrating disease-gene associations, protein complexes and augmented protein interactions, and develops a novel graph embedding for the heterogeneous module network. Subsequently, a graph neural network is constructed to learn node representations by collectively aggregating information from topological structure, and gene prioritization is carried out by the disease and gene embeddings obtained from the graph neural network. Experimental results underscore the superiority of ModulePred, showcasing the effectiveness of incorporating functional modules and graph augmentation in predicting disease-gene associations. This research introduces innovative ideas and directions, enhancing the understanding and prediction of gene-disease relationships.
Topics: Deep Learning; Humans; Algorithms; Computational Biology; Protein Interaction Maps; Genetic Predisposition to Disease; Neural Networks, Computer; Genetic Association Studies
PubMed: 38877401
DOI: 10.1186/s12859-024-05841-3 -
Learning & Memory (Cold Spring Harbor,... May 2024Animal brains need to store information to construct a representation of their environment. Knowledge of what happened in the past allows both vertebrates and... (Review)
Review
Animal brains need to store information to construct a representation of their environment. Knowledge of what happened in the past allows both vertebrates and invertebrates to predict future outcomes by recalling previous experience. Although invertebrate and vertebrate brains share common principles at the molecular, cellular, and circuit-architectural levels, there are also obvious differences as exemplified by the use of acetylcholine versus glutamate as the considered main excitatory neurotransmitters in the respective central nervous systems. Nonetheless, across central nervous systems, synaptic plasticity is thought to be a main substrate for memory storage. Therefore, how brain circuits and synaptic contacts change following learning is of fundamental interest for understanding brain computations tied to behavior in any animal. Recent progress has been made in understanding such plastic changes following olfactory associative learning in the mushroom bodies (MBs) of A current framework of memory-guided behavioral selection is based on the MB skew model, in which antagonistic synaptic pathways are selectively changed in strength. Here, we review insights into plasticity at dedicated MB output pathways and update what is known about the plasticity of both pre- and postsynaptic compartments of MB neurons.
Topics: Animals; Mushroom Bodies; Neuronal Plasticity; Drosophila; Synapses; Association Learning; Memory
PubMed: 38876487
DOI: 10.1101/lm.053919.124