We provide an overview of the challenges that low-resource setting cities are facing, including a lack of global implementation of cancer screening programs, accurate data and statistics that may aid the health authorities and guide future public health activities, as well as reorient strategies, interventions and budgets to promote lifestyles that help prevent disease. Current cancer care does not fully reflect ethnic, cultural, environmental and resource differences. Herein, we described a snapshot of the cancer mortality and morbidity from a hospital that cares a rural and low-income population from Peru, called Chimbote (316,966 inhabitants) and showed the limitation of access to oncological care and genetic services. The city is located in the region of Ancash, which is a department of Northern Peru. Of note, we identified a greater proportion of cancer cases than previously described, with a young age of onset and differential profile of the most frequent cancers. With the emergence of increasingly effective interventions, it becomes paramount that populations living in resource-limited settings have access to cancer services and participate in genetics and genomic research.
Background: Genetic testing for hereditary cancers is inconsistently applied within the healthcare systems in Latin America. In Peru, the prevalence and spectrum of cancer-predisposing germline variants is thus poorly characterized. Purpose: To determine the spectrum and prevalence of cancer-predisposing germline variants and variants of uncertain significance (VUS) in high-risk individuals located in a Peruvian low-resource setting city. Methods: Individuals presenting clinical criteria for hereditary cancer syndromes or being unaffected with familial history of cancer were included in the study. Samples from a total of 84 individuals were subjected to a high-throughput DNA sequencing assay that targeted a panel of 94 cancer predisposition genes. The pathogenicity of detected germline variants was classified according to the established American College of Medical Genetics and Genomics (ACMG) criteria. All pathogenic variants were validated by cycling temperature capillary electrophoresis. Results: We identified a total of eight pathogenic variants, found in 19 out of 84 individuals (23%). Pathogenic variants were identified in 24% (10/42) of unaffected individuals with family history of cancer and in 21% (9/42) of individuals with a cancer diagnosis. Pathogenic variants were identified in eight genes: RET (3), BRCA1 (3), SBDS (2), SBDS/MLH1 (4), MLH1 (4), TP53 (1), FANCD2 (1), DDB2/FANCG (1). In cancer cases, all colon cancer cases were affected by pathogenic variants in MLH1 and SBDS genes, while 20% (2/10) of the thyroid cancer cases by RET c.1900T>C variants were affected. One patient with endometrial cancer (1/3) had a double heterozygous pathogenic variant in DDB2 and FANCG genes, while one breast cancer patient (1/14) had a pathogenic variant in TP53 gene. Overall, each individual presented at least 17 VUS, totaling 1926 VUS for the full study population. Conclusion: We describe the first genetic characterization in a low-resource setting population where genetic testing is not yet implemented. We identified multiple pathogenic germline variants in clinically actionable predisposition genes, that have an impact on providing an appropriate genetic counselling and clinical management for individuals and their relatives who carry these variants. We also reported a high number of VUS, which may indicate variants specific for this population and may require a determination of their clinical significance.
Background: Since its release in 2016, Pokémon GO™ has achieved not only extensive popularity but has also accrued evidence that it helps to increase physical activity and sense of belonging. Personality traits may explain a differential engagement and fidelity with the game, hence potentially allowing for prediction of different patterns of game engagement as well as its health benefits. Our objective was to compare personality traits between Pokémon GO game players and non-players. Methods: We conducted a cross-sectional study in participants aged 18+ years through an online survey. The following categories of game engagement were defined: active players, occasional players, former players, and never players. Personality was measured with the NEO-FFI inventory that evaluates personality across five domains: openness to experience, conscientiousness, extraversion, agreeableness, and neuroticism. ANOVA and MANOVA models were performed to test differences in personality traits’ scores. Multivariate regression models were also used to describe specific differences across groups of game engagement. Results: Data from 654 participants, average 28.6 years of age, 75% male, were included in the study. In the ANOVA analysis, we observed differences between the three players' subgroups in openness (p=0.015) and conscientiousness (p=0.032). In MANOVA and multivariate regression analyses, we found that active players presented higher scores in openness and agreeableness, but lower scores in conscientiousness compared to former or non-players. Conclusions: We found evidence that people that actively play Pokémon GO are more likely to be friendlier and more open to new experiences, but also scored less on conscientiousness which is related to discipline. This gives us better insight on how personality may help identification of people and their involvement with activities that demand fulfillment of tasks. These findings could help inform the engagement with health-related behaviors, including physical activity and medication adherence.
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