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1.
J Clin Med ; 13(11)2024 May 27.
Article in English | MEDLINE | ID: mdl-38892848

ABSTRACT

Background/Objectives: Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL) is a hereditary small vessel disease leading to significant morbidity and mortality. Despite advances in genetic diagnosis, the underlying pathophysiology remains incompletely understood. Proteomic studies offer insights into disease mechanisms by identifying altered protein expression patterns. Here, we conducted a proteomic analysis to elucidate molecular pathways associated with CADASIL. Methods: We enrolled genetically diagnosed CADASIL patients and healthy, genetically related controls. Plasma samples were subjected to proteomic analysis using the Olink platform, measuring 552 proteins across six panels. The data were analyzed from several approaches by using three different statistical methods: Exploratory Principal Component Analysis (PCA) and Partial Least Squares-Discriminant Analysis (PLS-DA), differential expression with moderated t-test, and gene set enrichment analysis (GSEA). In addition, bioinformatics analysis, including volcano plot, heatmap, and Variable Importance on Projection (VIP) scores from the PLS-DA model were drawn. Results: Significant differences in protein expression were observed between CADASIL patients and controls. RSPO1 and FGF-19 exhibited elevated levels (p < 0.05), while PPY showed downregulation (p < 0.05) in CADASIL patients, suggesting their involvement in disease pathogenesis. Furthermore, MIC-A/B expression varied significantly between patients with mutations in exon 4 versus exon 11 of the NOTCH3 gene (p < 0.05), highlighting potential immunological mechanisms underlying CADASIL. We identified altered pathways using GSEA, applied after ranking the study data. Conclusions: Our study provides novel insights into the proteomic profile of CADASIL, identifying dysregulated proteins associated with vascular pathology, metabolic dysregulation, and immune activation. These findings contribute to a deeper understanding of CADASIL pathophysiology and may inform the development of targeted therapeutic strategies. Further research is warranted to validate these biomarkers and elucidate their functional roles in disease progression.

2.
J Relig Health ; 61(1): 507-523, 2022 Feb.
Article in English | MEDLINE | ID: mdl-32803656

ABSTRACT

Insomnia is a common problem, affecting individuals' health and quality of life. Among several therapies used to treat this condition, spiritual interventions are suggested to have beneficial outcomes on sleep disturbances. Nevertheless, a systematic compilation of the evidence available is still needed in the literature in order to scientifically investigate the topic. To examine the most common spiritual interventions proposed to treat sleep disorders and to assess the scientific evidence of these interventions. This is a scoping literature review conducted by independent researchers on the following databases: PubMed, SCOPUS, Web of Science, Cochrane Library and OpenGrey. A boolean expression was used, and all studies published in the last 5 years investigating the role of spiritual or religious interventions on insomnia were included. From a total of 3257 articles retrieved in our search, ten studies were included in the final analysis. There is a wide array of techniques used to treat insomnia or the mental disorders associated with insomnia, such as mantra, yoga, mindfulness, praying/meditation, daily spiritual experiences, psycho-religious training and intervention. The included studies showed a positive influence of spiritual/religious interventions on insomnia directly and indirectly. However, there is a scarcity of clinical trials and most studies have small sample sizes and used only subjective measures, resulting in a low evidence. The results of the present review point to a promising role of spirituality and religion on better sleep outcomes, particularly in the improvement in insomnia. However, the heterogeneity and the quality of these studies suggest caution while interpreting these findings. More clinical trials are needed in this area to provide a recommendation of these methods in clinical practice.


Subject(s)
Sleep Initiation and Maintenance Disorders , Spiritual Therapies , Humans , Quality of Life , Religion , Sleep Initiation and Maintenance Disorders/therapy , Spirituality
3.
J Clin Nurs ; 30(23-24): 3657-3669, 2021 Dec.
Article in English | MEDLINE | ID: mdl-34056768

ABSTRACT

AIM: To elicit the experiences and perspectives of health professionals working on the frontline in the COVID-19 pandemic. BACKGROUND: Although some qualitative studies have been carried out in health professionals during COVID-19 pandemic, to our knowledge, no study has used the Photovoice method. DESIGN: A qualitative descriptive study using Photovoice was carried out between March and June 2020. METHODS: A total of 20 health professionals were recruited from public and private healthcare services. The participants were invited to share photographs about their experiences while working during COVID-19 pandemic. Following the Photovoice method, audio-recorded interviews were conducted. The data were analysed using the 'SHOWED' mnemonic, with five questions answered about each photograph. The EQUATOR checklist has been used. RESULTS/FINDINGS: Three themes emerged: (1) Personal attitudes of health professionals; (2) Support from the community; and (3) Management of institutional resources. Despite the fact that health professionals in this study were exposed to major risks while caring for patients with COVID-19' they felt a strong sense of responsibility towards the community. In order to handle these stressful situations, they used coping mechanisms, good humour and leisure, but also received support from the population, who saw them as highly skilled health professionals. CONCLUSION: These findings highlight the essential role of health professionals in the COVID-19 pandemic and the tireless work they are carrying out to provided highly skilled care. RELEVANCE TO CLINICAL PRACTICE: These findings could contribute to raise awareness on the needs of health professionals during the pandemic, allowing managers to plan strategies to ensure the safety, and well-being of these professionals, as well as adopting similar strategies in their practice to create a space for critical reflection through participatory approaches.


Subject(s)
COVID-19 , Pandemics , Health Personnel , Humans , Qualitative Research , SARS-CoV-2
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