Search Results (22)

Background: Lung cancer continues to be one of the most fatal malignancies globally. Uncovering differentially expressed genes (DEGs) is crucial for advancing our understanding of tumor mechanisms and discovering new therapeutic targets. This study sought to identify key genes linked to prognosis and immune infiltration in lung cancer through the analysis of public gene expression datasets. Methods: We examined three microarray datasets from the Gene Expression Omnibus (GSE10072, GSE33356, and GSE18842) to detect DEGs between tumor and normal lung tissues. Functional enrichment was performed using Gene Ontology (GO) and Kyoto Encyclopedia of Genes and Genomes (KEGG) pathway analyses to interpret the biological relevance of these genes. Protein–protein interaction (PPI) networks were constructed via STRING and visualized using Cytoscape to screen for central hub genes. The prognostic implications of the hub genes were investigated using Kaplan–Meier Plotter and TIMER2.0 based on data from The Cancer Genome Atlas (TCGA). PECAM1 expression levels and its relationship with immune cell infiltration were further explored using UCSC Xena. Results: A total of 477 DEGs were consistently identified across all three datasets. Among the top 10 down-regulated hub genes, PECAM1 was significantly reduced in tumor tissues. Lower PECAM1 expression was positively associated with better first-progression survival (FPS) in lung cancer patients. This gene was particularly suppressed in lung adenocarcinoma (LUAD) and showed strong correlations with immune cell infiltration. Co-expression analysis revealed that genes linked to PECAM1 are involved in immune-related pathways. Conclusions: Our findings highlight PECAM1 as a potential prognostic biomarker in lung cancer, especially in LUAD. Its association with immune infiltration and patient survival supports its possible utility in early detection and as a candidate for immunotherapy development. Full article

Patient and Public Involvement and Engagement (PPIE, alternatively referred to as public involvement (PI), public and patient involvement (PPI), or consumer and community involvement and engagement (CCIE)), refers to research being conducted ‘with’ or ‘by’ members of the public rather than ‘to’, ‘about’, or ‘for’ them [...] Full article

Autism spectrum disorder (ASD) is a complex multifactorial neurodevelopmental disorder. Despite extensive research involving genome-wide association studies, copy number variant (CNV) testing, and genome sequencing, the comprehensive genetic landscape remains incomplete. In this context, we developed a systems biology approach to prioritize genes associated with ASD and uncover potential new candidates. A Protein–Protein Interaction (PPI) network was generated from genes associated to ASD in a public database. Leveraging gene topological properties, particularly betweenness centrality, we prioritized genes and unveiled potential novel candidates (e.g., CDC5L, RYBP, and MEOX2). To test this approach, a list of genes within CNVs of unknown significance, identified through array comparative genomic hybridization analysis in 135 ASD patients, was mapped onto the PPI network. A prioritized gene list was obtained through ranking by betweenness centrality score. Intriguingly, by over-representation analysis, significant enrichments emerged in pathways not strictly linked to ASD, including ubiquitin-mediated proteolysis and cannabinoid receptor signaling, suggesting their potential perturbation in ASD. Our systems biology approach provides a promising strategy for identifying ASD risk genes, especially in large and noisy datasets, and contributes to a deeper understanding of the disorder’s complex genetic basis. Full article

The goal of our study was to identify and assess the functionally significant SNPs with potentially important roles in the development of type 2 diabetes mellitus (T2DM) and/or their effect on individual response to antihyperglycemic medication with metformin. We applied a bioinformatics approach to identify the regulatory SNPs (rSNPs) associated with allele-asymmetric binding and expression events in our paired ChIP-seq and RNA-seq data for peripheral blood mononuclear cells (PBMCs) of nine healthy individuals. The rSNP outcomes were analyzed using public data from the GWAS (Genome-Wide Association Studies) and Genotype-Tissue Expression (GTEx). The differentially expressed genes (DEGs) between healthy and T2DM individuals (GSE221521), including metformin responders and non-responders (GSE153315), were searched for in GEO RNA-seq data. The DEGs harboring rSNPs were analyzed using the Gene Ontology (GO) and Kyoto Encyclopedia of Genes and Genomes (KEGG). We identified 14,796 rSNPs in the promoters of 5132 genes of human PBMCs. We found 4280 rSNPs to associate with both phenotypic traits (GWAS) and expression quantitative trait loci (eQTLs) from GTEx. Between T2DM patients and controls, 3810 rSNPs were detected in the promoters of 1284 DEGs. Based on the protein-protein interaction (PPI) network, we identified 31 upregulated hub genes, including the genes involved in inflammation, obesity, and insulin resistance. The top-ranked 10 enriched KEGG pathways for these hubs included insulin, AMPK, and FoxO signaling pathways. Between metformin responders and non-responders, 367 rSNPs were found in the promoters of 131 DEGs. Genes encoding transcription factors and transcription regulators were the most widely represented group and many were shown to be involved in the T2DM pathogenesis. We have formed a list of human rSNPs that add functional interpretation to the T2DM-association signals identified in GWAS. The results suggest candidate causal regulatory variants for T2DM, with strong enrichment in the pathways related to glucose metabolism, inflammation, and the effects of metformin. Full article

Prior research has highlighted important healthcare access and utilization issues among new forced immigrants. We aimed to explore the role that public and patient involvement (PPI) might play in enhancing accessibility and specific contributions to migration health studies. We conducted open and in-depth interactive virtual discussions with asylum seekers and refugees from Eritrea and Syria in Switzerland. The PPI establishment consisted of three phases: inception, training and contribution. Prior to training, the concept of PPI was not straightforward to grasp, as it was a new approach—however, after training and consecutive discussions, participants were ardent to engage actively. We conclude that PPI holds promise in regard to raising awareness, improving healthcare system accessibilities and utilization, and enhancing and strengthening migration health research. Indeed, PPI volunteers were keen to raise their community’s awareness through their networks and bridge an important gap between researchers and the public. Full article

There are many music experiences for people with dementia and their caregivers including but not limited to individualized playlists, music and singing groups, dementia-inclusive choirs and concerts, and music therapy. While the benefits of these music experiences have been well documented, an understanding of the differences between them is often absent. However, knowledge of and distinction between these experiences are crucial to people with dementia and their family members, caregivers, and health practitioners to ensure a comprehensive music approach to dementia care is provided. Considering the array of music experiences available, choosing the most appropriate music experience can be challenging. This is an exploratory phenomenological study with significant Public and Patient Involvement (PPI). Through consultation with PPI contributors with dementia via an online focus group and senior music therapists working in dementia care via online semi-structured interviews, this paper aims to identify these distinctions and to address this challenge by providing a visual step-by-step guide. This guide can be consulted when choosing an appropriate music experience for a person with dementia living in the community. Full article

An umbrella review of previously published systematic reviews was conducted to determine the nature and extent of the patient and public involvement (PPI) in COVID-19 health and social care research and identify how PPI has been used to develop public health measures (PHM). In recent years, there has been a growing emphasis on PPI in research as it offers alternative perspectives and insight into the needs of healthcare users to improve the quality and relevance of research. In January 2022, nine databases were searched from 2020–2022, and records were filtered to identify peer-reviewed articles published in English. From a total of 1437 unique records, 54 full-text articles were initially evaluated, and six articles met the inclusion criteria. The included studies suggest that PHM should be attuned to communities within a sociocultural context. Based on the evidence included, it is evident that PPI in COVID-19-related research is varied. The existing evidence includes written feedback, conversations with stakeholders, and working groups/task forces. An inconsistent evidence base exists in the application and use of PPI in PHM. Successful mitigation efforts must be community specific while making PPI an integral component of shared decision-making. Full article

The COVID-19 pandemic has caused millions of deaths and remains a major public health burden worldwide. Previous studies found that a large number of COVID-19 patients and survivors developed neurological symptoms and might be at high risk of neurodegenerative diseases, such as Alzheimer’s disease (AD) and Parkinson’s disease (PD). We aimed to explore the shared pathways between COVID-19, AD, and PD by using bioinformatic analysis to reveal potential mechanisms, which may explain the neurological symptoms and degeneration of brain that occur in COVID-19 patients, and to provide early intervention. In this study, gene expression datasets of the frontal cortex were employed to detect common differentially expressed genes (DEGs) of COVID-19, AD, and PD. A total of 52 common DEGs were then examined using functional annotation, protein–protein interaction (PPI) construction, candidate drug identification, and regulatory network analysis. We found that the involvement of the synaptic vesicle cycle and down-regulation of synapses were shared by these three diseases, suggesting that synaptic dysfunction might contribute to the onset and progress of neurodegenerative diseases caused by COVID-19. Five hub genes and one key module were obtained from the PPI network. Moreover, 5 drugs and 42 transcription factors (TFs) were also identified on the datasets. In conclusion, the results of our study provide new insights and directions for follow-up studies of the relationship between COVID-19 and neurodegenerative diseases. The hub genes and potential drugs we identified may provide promising treatment strategies to prevent COVID-19 patients from developing these disorders. Full article

The increasing importance of identifying lesbian, gay, bisexual and transgender (LGBT+) populations is a key driver in changes to demographic data collection in representative surveys of youth. While such population-based data are rare, Growing Up in Ireland (GUI), an Irish, government-funded, longitudinal survey, includes sexual orientation and gender identity (SOGI) measurements. This qualitative study responds to a query from the GUI study team and aims to identify how best to collect SOGI data in future waves of GUI. A university Human Research Ethics Committee granted approval for online consultations with LGBT+ youth (n = 6) with experiential expertise in policy making. The research is underpinned by rights-based public patient involvement (PPI) with recorded discussions, which were transcribed and imported into NVivo 12, generating the theme “recognition in research, policy and society”. This co-created article, with the LGBT+ young PPI Panel members, commends the inclusion of SOGI data in GUI and recommends changes in question placement and phrasing. Aligning with best practice, the PPI members provide a template for wording on consecutive sex and gender questions, expanded sexual orientation identity categories and maintaining the existing well-phrased transgender question from GUI. This offers potential to improve the quality of the SOGI data collected and the experience of those completing the questionnaire. These findings extend beyond GUI, with relevance for surveys with youth populations. This paper underscores the potential and benefits of participatory approaches to research with youth and views their role beyond simply as sources of data. Full article

Objective: To assess the feasibility of using adaptive choice-based conjoint (ACBC) analysis to elicit patients’ preferences for pharmacological treatment of osteoarthritis (OA), patients’ satisfaction with completing the ACBC questionnaire, and factors associated with questionnaire completion time. Methods: Adult patients aged 18 years and older with a medical diagnosis of OA, experiencing joint pain in the past 12 months, and living in the Northeast of England participated in the study. The participants completed a web-based ACBC questionnaire about their preferences regarding pharmaceutical treatment for OA using a touchscreen laptop independently, and accordingly, the questionnaire completion time was measured. Moreover, the participants completed a pen-and-paper feedback form about their experience in completing the ACBC questionnaire. Results: Twenty participants aged 40 years and older, 65% females, 75% had knee OA, and suffering from OA for more than 5 years participated in the study. About 60% of participants reported completing a computerized questionnaire in the past. About 85% of participants believed that the ACBC task helped them in making decisions regarding their OA medications, and 95% agreed or strongly agreed that they would be happy to complete a similar ACBC questionnaire in the future. The average questionnaire completion time was 16 min (range 10–24 min). The main factors associated with longer questionnaire completion time were older age, never using a computer in the past, and no previous experience in completing a questionnaire. Conclusions: The ACBC analysis is a feasible and efficient method to elicit patients’ preferences for pharmacological treatment of OA, which could be used in clinical settings to facilitate shared decision-making and patient-centered care. The ACBC questionnaire completion consumes a significantly longer time for elderly participants, who never used a computer, and never completed any questionnaire previously. Therefore, the contribution of patients and public involvement (PPI) group in the development of the ACBC questionnaire could facilitate participants’ understanding and satisfaction with the task. Future research including patients with different chronic conditions may provide more useful information about the efficiency of ACBC analysis in eliciting patients’ preferences for osteoarthritis treatment. Full article

Stroke survivors and informal caregivers experience high levels of stress and anxiety, linked to heightened risk of secondary stroke in survivors. Relaxation and mindfulness could reduce stress and anxiety; being most effective when tailored to the target populations. Aims of the PPI include to: (1) consult on possible alterations to an existing relaxation and mindfulness intervention, delivered via YouTube/DVD and (2) discuss relevance and preference of prompts and cues designed to facilitate the daily practice of the intervention. Eleven UK PPI contributors were consulted during 2020: four stroke survivors (F = 2, M = 2), three caregivers (F = 1, M = 2), and four HCPs (F = 4) (range = 23–63 years). Contributors watched the existing intervention and provided feedback via online discussions. Transcripts were analysed using thematic analysis. Five themes were identified, highlighting several necessary alterations to the intervention: “Who represents the stroke population?”; “The paradox of age”; “Specifically selected language”; “Visual presentation of the intervention”; and the “Audio qualities”. Contributors ranked the prompts and cues in order of preference with setting alarms and email alerts as the most popular. The PPI consultations resulted in several alterations enabling a revised version of the intervention. Including a PPI consultation at an early stage of the research improves the relevance and appropriateness of the research. The revised intervention is more representative of the stroke population thus more likely to be practised by survivors and caregivers, which will enhance the extent of effectiveness, reducing the risk of a secondary stroke. Full article

At least 50% of chronic disease patients don’t follow their care plans, leading to lower health outcomes and higher medical costs. Providing Patient Education Materials (PEMs) to individuals living with a disease can help to overcome these problems. PEMs are especially beneficial for people suffering from multisystemic and underrecognized diseases, such as rare diseases. Congenital disorders of glycosylation (CDG) are ultra-rare diseases, where a need was identified for PEMs in plain language that can clearly explain complex information. Community involvement in the design of PEMs is extremely important for diseases whose needs are underserved, such as rare diseases; however, attempts to involve lay and professional stakeholders are lacking. This paper presents a community-based participatory framework to co-create PEMs for CDG, that is transferable to other diseases. A literature review and questionnaire were performed, and only four articles describing the development of PEMS for rare diseases have been found, which demonstrates a lack of standardized approaches. The framework and PEMs were co-developed with CDG families and will be crucial in increasing health literacy and empowering families. We will close a gap in the creation of PEMs for CDG by delivering these resources in lay language in several languages. Full article

The participation of adolescents with cerebral palsy (CP) within the community is reduced compared to their peers and is a barrier to their socialization, self-determination and quality of life. Patient and Public Involvement (PPI) is a key strategy for successful interventions, especially when involvement of the stakeholders takes place at all stages of the research. Co-design can be crucial for success as researchers, patients with CP and their families work together to bring the necessary elements to the interventions to be designed. The objectives will be: (1) To co-design an intervention aimed at improving the participation of adolescents with significant motor disabilities within the community in partnership with adolescents with CP, families and rehabilitation professionals. (2) To assess the feasibility of the co-design process in partnership with interested parties. The study will be based on Participatory Action Research (PAR) and will be held in Spain and Brazil. In both countries, the study will be carried out remotely with nine adolescents aged 12 to 17 years with CP, Gross Motor Function Classification System (GMFCS) levels IV–V, their families and six health professionals (physiotherapists and occupational therapists). Different dialogue groups will be created to involve adolescents, families and health professionals to the research’s project. To manage their involvement in the co-design process, the Involvement Matrix (IM) will be used, and according to the IM phases, four steps will be included in the research: (1) Preparation; (2) Co-design; (3) Analysis: results of the intervention protocol and the study’s feasibility and (4) Dissemination of results. Partnering with the public to design an intervention to improve participation can bring better results compared to protocols designed only by health professionals. In addition, it will allow for knowing the needs of adolescents with CP in terms of participation within the community. The study will also explore which roles were chosen by all participants and how they felt while actively participating in the process of co-designing an intervention protocol and their own perspectives on the use of the involvement matrix. Full article

Information received by women regarding physical activity during and after pregnancy often lacks clarity and may be conflicting and confusing. Without clear, engaging, accessible guidance centred on the experiences of pregnancy and parenting, the benefits of physical activity can be lost. We describe a collaborative process to inform the design of evidence-based, user-centred physical activity resources which reflect diverse experiences of pregnancy and early parenthood. Two iterative, collaborative phases involving patient and public involvement (PPI) workshops, a scoping survey (n = 553) and stakeholder events engaged women and maternity, policy and physical activity stakeholders to inform pilot resource development. These activities shaped understanding of challenges experienced by maternity and physical activity service providers, pregnant women and new mothers in relation to supporting physical activity. Working collaboratively with women and stakeholders, we co-designed pilot resources and identified important considerations for future resource development. Outcomes and lessons learned from this process will inform further work to support physical activity during pregnancy and beyond, but also wider health research where such collaborative approaches are important. We hope that drawing on our experiences and sharing outcomes from this work provide useful information for researchers, healthcare professionals, policy makers and those involved in supporting physical activity behaviour. Full article

We aimed to explore and gain an understanding into how people with dementia experience apathy, and consequently suggest effective interventions to help them and their carers. Twelve participants (6 dyads of 6 people with dementia and their family carers) were recruited from “memory cafes” (meeting groups for people with dementia and their families), social groups, seminars, and patient and public involvement (PPI) meetings. People with dementia and their carers were interviewed separately and simultaneously. Quantitative data were collected using validated scales for apathy, cognition, anxiety, and depression. The interviews were semi-structured, focusing on the subjective interpretation of apathy and impacts on behaviour, habits, hobbies, relationships, mood, and activities of daily living. Interviews were recorded and transcribed. Transcripts were analysed using interpretative phenomenological analysis (IPA), which generated codes and patterns that were collated into themes. Four major themes were identified, three of which highlighted the challenging aspects of apathy. One described the positive aspects of the individuals’ efforts to overcome apathy and remain connected with the world and people around them. This study is the first to illustrate the subjective experience of apathy in dementia, portraying it as a more complex and active phenomenon than previously assumed. Apathy and its effects warrant more attention from clinicians, researchers, and others involved in dementia care. Full article