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Background Vitiligo is reported to affect 2% of the world’s population and has a significant impact on health related quality of life (HRQoL). The relationship between HRQoL and clinical outcomes used in vitiligo require further examination. Mapping condition specific measures of HRQoL: vitiligo specific quality of life instrument (VitiQoL), vitiligo noticeability scale (VNS) and vitiligo re-pigmentation scores (RPS) to the EQ-5D have not yet been reported. Methods Data collected from a randomised clinical trial (HI-Light) in vitiligo was used to develop mapping algorithms for the EQ-5D-5 L and the relationship between HRQoL, clinical outcomes and EQ-5D were investigated. Two EQ-5D-5 L value sets (Van Hout and Alava) using linear and non-linear models were considered. Logistic regression models were used to model the probability of vitiligo noticeability (VNS) in terms of RPS, EQ-5D and VitiQoL scores. Results Mapping from RPS appeared to perform better followed by VNS for the Alava crosswalks using polynomial models: Mean observed vs. predicted utilities of 0.9008 (0.005) vs. 0.8984 (0.0004) were observed for RPS. For VNS, mean observed vs. predicted utilities of 0.9008 (0.005) vs. 0.8939 (0.0003) were observed. For VitiQoL, mean observed vs. predicted utilities of 0.9008 (0.005) vs. 0.8912 (0.0002) were observed. For patients with the least re-pigmentation (RPS < 25%), a Total VitiQoL score of about 20 points gives around an 18% chance of vitiligo being no longer or a lot less noticeable. Conclusion The algorithm based on RPS followed by VNS performed best. The relationship between effects from vitiligo specific HRQoL instruments and clinical RPS was established allowing for plausible clinically relevant differences to be identified, although further work is required in this area.

Alzheimer’s disease (AD) is a progressive neurodegenerative disorder marked by amyloid-β (Aβ) plaques, neurofibrillary tangles, blood–brain barrier dysfunction, oxidative stress (OS), and neuroinflammation. Current treatments provide symptomatic relief, but do not halt the disease’s progression. OS plays a crucial role in AD pathogenesis by promoting Aβ accumulation. Nuclear factor erythroid 2-related factor 2 (NRF2) is a key regulator of the antioxidant response, influencing genes involved in OS mitigation, mitochondrial function, and inflammation. Dysregulation of NRF2 is implicated in AD, making it a promising therapeutic target. Emerging evidence suggests that adherence to a Mediterranean diet (MD), which is particularly rich in polyphenols from extra virgin olive oil (EVOO), is associated with improved cognitive function and a reduced risk of mild cognitive impairment. Polyphenols can activate NRF2, enhancing endogenous antioxidant defenses. This study employs a computational approach to explore the potential of bioactive compounds in EVOO to modulate NRF2-related pathways in AD. We analyzed transcriptomic data from AD and EVOO-treated samples to identify NRF2-associated genes, and used chemical structure-based analysis to compare EVOO’s bioactive compounds with known NRF2 activators. Enrichment analysis was performed to identify common biological functions between NRF2-, EVOO-, and AD-related pathways. Our findings highlight important factors and biological functions that provide new insight into the molecular mechanisms through which EVOO consumption might influence cellular pathways associated with AD via modulation of the NRF2 pathway. The presented approach provides a different perspective in the discovery of compounds that may contribute to neuroprotective mechanisms in the context of AD.

The Cyprus Biobank collects biosamples, medical and lifestyle information with the aim of reaching 16,500 Cypriots aged ≥ 18-years, by year 2027, as part of a multitasked EU funded project. Volunteers are both from the general population and from disease cohorts of focused research projects, who amongst others will contribute to canvas the architecture of the Cyprus human genome and study the healthy and morbid anatomy of Cypriots. The Cyprus Biobank is a research infrastructure pillar of the biobank.cy Center of Excellence in Biobanking and Biomedical Research. Within 3-years (November 2019–October 2022), 1348 participants of the general population who represent a subset of the Cyprus Biobank recruited individuals, were enrolled in the pilot study. The study did not include individuals from separate disease-specific cohorts. Extensive information was collected from each participant, including biochemistry, complete blood count, physiological, anthropometric, socio-demographic, diet, and lifestyle characteristics. Prevalent health conditions along with medication use and family history were recorded, including 58 biomarkers based on blood and urine samples. With a systematic recruitment campaign, the Biobank is continuously increasing the number of individuals in the general population cohort and is developing separate disease cohorts of the Cypriot population. The pilot study enrolled 579 men and 769 women, aged between 18 and 85 years (median 48-years). The enrollment takes 40 min on average, including the collection of biological samples and phenotypic information. More than half (n = 733, 55%) of the participants are educated to college level or above. Statistically significant differences were found between men and women regarding their education level (p < 0.001), marital status (p = 0.01) and employment status (p < 0.001) but not their age (p = 0.29). The most prevalent medical conditions recorded are hypertension (17.2%), osteoporosis (6.9%) and diabetes (6.0%). In conclusion, the Cyprus biobanking pilot study has successfully collected extensive baseline information from enrolled participants. The Biobank will comprise a rich data resource used to examine the major risk factors leading to public health burdens and develop strategies for disease prevention.

Background: Dietary interventions are powerful tools for disease prevention and health promotion, yet the molecular mechanisms by which diet influences health remain incompletely understood. Investigating the effects of diet in healthy individuals enables characterization of molecular and physiological responses in the absence of disease-related confounders and facilitates the identification of diet-responsive pathways underlying physiological regulation. Methods: We investigated the metabolic and immune effects of short-term dietary restriction of animal products in a unique group of apparently healthy individuals (N = 200) who alternate between omnivory and animal product restriction for religious reasons. We profiled clinical biomarkers and immune parameters during both dietary states, alongside a control group of continuously omnivorous individuals (N = 211). Results: Short-term restriction is associated with reductions in total and non-high-density lipoprotein cholesterol, urea, creatinine, alanine aminotransferase, and gamma-glutamyltransferase, and a concurrent 73% reduction of normal-range C-reactive protein levels. Immune profiling reveals reductions in frequencies of non-classical monocytes, CD56⁺ natural killer cells, and CD8⁺ memory T cells, accompanied by an increased response of cytokine IL-10, suggesting enhanced immune regulation against inflammation. Although most changes are in a direction suggesting beneficial health effects, levels of alkaline phosphatase increase upon restriction, implying possible negative effects on bone turnover or liver function. Conclusions: Short-term animal product restriction mostly improves systemic metabolic and immune health markers and may lower chronic inflammatory disease risk. Our findings highlight the value of studying diet in the absence of disease to reveal adaptive molecular changes and emphasize the translational potential of short-term dietary interventions in altering health-related risks. Plain language summary Changing what we eat, even for a short time, can have important effects on our health. In this study, we looked at healthy individuals who regularly switch between being omnivorous and avoiding animal products for religious reasons. We compared their health markers and immune system activity during both diets and to a continuously omnivorous group. When animal products were restricted, we found improvements in cholesterol, liver and kidney markers, and signs of lower inflammation. These changes suggest that even short periods of avoiding animal products may support better health, although further work is necessary to explore potential negative effects. Studying healthy people helps us understand how diet alone can influence the body before disease develops. Loizidou, Palaiokrassa, Asiedu, et al. study individuals who alternate between being omnivorous and avoiding animal products for religious reasons. Results reveal widespread changes in health-related biomarkers in a direction suggesting positive effects on health, along with signs of lower inflammation during animal product restriction.

The Cyprus Biobank collects biosamples, medical and lifestyle information with the aim of reaching 16,500 Cypriots aged ≥ 18-years, by year 2027, as part of a multitasked EU funded project. Volunteers are both from the general population and from disease cohorts of focused research projects, who amongst others will contribute to canvas the architecture of the Cyprus human genome and study the healthy and morbid anatomy of Cypriots. The Cyprus Biobank is a research infrastructure pillar of the biobank.cy Center of Excellence in Biobanking and Biomedical Research. Within 3-years (November 2019-October 2022), 1348 participants of the general population who represent a subset of the Cyprus Biobank recruited individuals, were enrolled in the pilot study. The study did not include individuals from separate disease-specific cohorts. Extensive information was collected from each participant, including biochemistry, complete blood count, physiological, anthropometric, socio-demographic, diet, and lifestyle characteristics. Prevalent health conditions along with medication use and family history were recorded, including 58 biomarkers based on blood and urine samples. With a systematic recruitment campaign, the Biobank is continuously increasing the number of individuals in the general population cohort and is developing separate disease cohorts of the Cypriot population. The pilot study enrolled 579 men and 769 women, aged between 18 and 85 years (median 48-years). The enrollment takes 40 min on average, including the collection of biological samples and phenotypic information. More than half (n = 733, 55%) of the participants are educated to college level or above. Statistically significant differences were found between men and women regarding their education level (p < 0.001), marital status (p = 0.01) and employment status (p < 0.001) but not their age (p = 0.29). The most prevalent medical conditions recorded are hypertension (17.2%), osteoporosis (6.9%) and diabetes (6.0%). In conclusion, the Cyprus biobanking pilot study has successfully collected extensive baseline information from enrolled participants. The Biobank will comprise a rich data resource used to examine the major risk factors leading to public health burdens and develop strategies for disease prevention.

We assessed the predictive ability of a combined genetic variant panel for the risk of recurrent pregnancy loss (RPL) through a case-control study. Our study sample was from Ukraine and included 114 cases with idiopathic RPL and 106 controls without any pregnancy losses/complications and with at least one healthy child. We genotyped variants within 12 genetic loci reflecting the main biological pathways involved in pregnancy maintenance: blood coagulation (F2, F5, F7, GP1A), hormonal regulation (ESR1, ADRB2), endometrium and placental function (ENOS, ACE), folate metabolism (MTHFR) and inflammatory response (IL6, IL8, IL10). We showed that a genetic risk score (GRS) calculated from the 12 variants was associated with an increased risk of RPL (odds ratio 1.56, 95% CI: 1.21, 2.04, p = 8.7 × 10−4). The receiver operator characteristic (ROC) analysis resulted in an area under the curve (AUC) of 0.64 (95% CI: 0.57, 0.72), indicating an improved ability of the GRS to classify women with and without RPL. Ιmplementation of the GRS approach can help define women at higher risk of complex multifactorial conditions such as RPL. Future well-powered genome-wide association studies will help in dissecting biological pathways previously unknown for RPL and further improve the identification of women with RPL susceptibility.

Inherited cardiomyopathies represent a highly heterogeneous group of cardiac diseases. DNA variants in genes expressed in cardiomyocytes cause a diverse spectrum of cardiomyopathies, ultimately leading to heart failure, arrythmias, and sudden cardiac death. We applied massive parallel DNA sequencing using a 72-gene panel for studying inherited cardiomyopathies. We report on variants in 25 families, where pathogenicity was predicted by different computational approaches, databases, and an in-house filtering analysis. All variants were validated using Sanger sequencing. Familial segregation was tested when possible. We identified 41 different variants in 26 genes. Analytically, we identified fifteen variants previously reported in the Human Gene Mutation Database: twelve mentioned as disease-causing mutations (DM) and three as probable disease-causing mutations (DM?). Additionally, we identified 26 novel variants. We classified the forty-one variants as follows: twenty-eight (68.3%) as variants of uncertain significance, eight (19.5%) as likely pathogenic, and five (12.2%) as pathogenic. We genetically characterized families with a cardiac phenotype. The genetic heterogeneity and the multiplicity of candidate variants are making a definite molecular diagnosis challenging, especially when there is a suspicion of incomplete penetrance or digenic-oligogenic inheritance. This is the first systematic study of inherited cardiac conditions in Cyprus, enabling us to develop a genetic baseline and precision cardiology.

Immediate-early genes (IEGs) are a class of activity-regulated genes (ARGs) that are transiently and rapidly activated in the absence of de novo protein synthesis in response to neuronal activity. We explored the role of IEGs in genetic networks to pinpoint potential drug targets for Alzheimer's disease (AD). Using a combination of network analysis and genome-wide association study (GWAS) summary statistics we show that (1) IEGs exert greater topological influence across different human and mouse gene networks compared to other ARGs, (2) ARGs are sparsely involved in diseases and significantly more mutational constrained compared to non-ARGs, (3) Many AD-linked variants are in ARGs gene regions, mainly in near FOSB, with an AD risk eQTL that increases expression in cortical areas, (4) holds an influential place in a dense AD multi-omic network and a high AD druggability score. Our work on IEGs' influential network role is a valuable contribution to guiding interventions for diseases marked by dysregulation of their downstream targets and highlights as a promising underexplored AD-target.

In Cyprus, approximately 9% of triple-negative (estrogen receptor-negative, progesterone receptor-negative, and human epidermal growth factor receptor 2-negative) breast cancer (TNBC) patients are positive for germline pathogenic variants (PVs) in BRCA1/2. However, the contribution of other genes has not yet been determined. To this end, we aimed to investigate the prevalence of germline PVs in BRCA1/2-negative TNBC patients in Cyprus, unselected for family history of cancer or age of diagnosis. A comprehensive 94-cancer-gene panel was implemented for 163 germline DNA samples, extracted from the peripheral blood of TNBC patients. Identified variants of uncertain clinical significance were evaluated, using extensive in silico investigation. Eight PVs (4.9%) were identified in two high-penetrance TNBC susceptibility genes. Of these, seven occurred in PALB2 (87.5%) and one occurred in TP53 (12.5%). Interestingly, 50% of the patients carrying PVs were diagnosed over the age of 60 years. The frequency of non-BRCA PVs (4.9%) and especially PALB2 PVs (4.3%) in TNBC patients in Cyprus appears to be higher compared to other populations. Based on these results, we believe that PALB2 and TP53 along with BRCA1/2 genetic testing could be beneficial for a large proportion of TNBC patients in Cyprus, irrespective of their age of diagnosis.