The deep evolutionary history of African populations, since the emergence of modern humans more than 300,000 years ago, has resulted in high genetic diversity and considerable population structure. ...Selected genetic variants have increased in frequency due to environmental adaptation, but recent exposures to novel pathogens and changes in lifestyle render some of them with properties leading to present health liabilities. The unique discoverability potential from African genomic studies promises invaluable contributions to understanding the genomic and molecular basis of health and disease. Globally, African populations are understudied, and precision medicine approaches are largely based on data from European and Asian-ancestry populations, which limits the transferability of findings to the continent of Africa. Africa needs innovative precision medicine solutions based on African data that use knowledge and implementation strategies aligned to its climatic, cultural, economic and genomic diversity.
Abstract
Objectives. Transmission of parental post-traumatic stress disorder (PTSD) to offspring might be explained by transmission of epigenetic processes such as methylation status of the ...glucocorticoid receptor (GR) gene (NR3C1). Methods. We investigated PTSD and depression severity, plasma cortisol, GR and mineralocorticoid receptor (MR) levels, and methylation status of NR3C1 and NR3C2 promoter regions in 25 women exposed to the Tutsi genocide during pregnancy and their children, and 25 women from the same ethnicity, pregnant during the same period but not exposed to the genocide, and their children. Results. Transmission of PTSD to the offspring was associated with transmission of biological alterations of the HPA axis. Mothers exposed to the genocide as well as their children had lower cortisol and GR levels and higher MR levels than non-exposed mothers and their children. Moreover, exposed mothers and their children had higher methylation of the NR3C1 exon 1F than non-exposed groups. Finally, exposed mothers showed higher methylation of CpGs located within the NR3C2 coding sequence than non-exposed mothers. Conclusions. PTSD was associated with NR3C1 epigenetic modifications that were similarly found in the mothers and their offspring, modifications that may underlie the possible transmission of biological alterations of the HPA axis.
Circulating microRNAs are non-invasive biomarkers that can be used for breast cancer diagnosis. However, differences in cancer tissue microRNA expression are observed in populations with different ...genetic/environmental backgrounds. This work aims at checking if a previously identified diagnostic circulating microRNA signature is efficient in other genetic and environmental contexts, and if a universal circulating signature might be possible. Two populations are used: women recruited in Belgium and Rwanda. Breast cancer patients and healthy controls were recruited in both populations (Belgium: 143 primary breast cancers and 136 healthy controls; Rwanda: 82 primary breast cancers and 73 healthy controls; Ntot = 434), and cohorts with matched age and cancer subtypes were compared. Plasmatic microRNA profiling was performed by RT-qPCR. Random Forest was used to (1) evaluate the performances of the previously described breast cancer diagnostic tool identified in Belgian-recruited cohorts on Rwandan-recruited cohorts and vice versa; (2) define new diagnostic signatures common to both recruitment sites; (3) define new diagnostic signatures efficient in the Rwandan population. None of the circulating microRNA signatures identified is accurate enough to be used as a diagnostic test in both populations. However, accurate circulating microRNA signatures can be found for each specific population, when taken separately.
Background Children who witness parental intimate partner violence (IPV) are more likely to develop mental health issues compared to those who do not witness such violence. Objective The main ...objective of this study is to assess the association between parental intimate partner violence and child mental health outcomes. Methodology This cross-sectional study involved 548 participants divided into two groups: parents (N = 304) and offspring (N = 244). The participants were recruited from Mageragere Sector in the City of Kigali (urban), as well as Mbazi and Ruhashya sectors in Huye District (rural). To assess the difference about mental difficulties reported by the offspring, a Mann-Whitney U test was employed to compare the responses of parents and their children on mental health outcomes. Additionally, multiple linear regression analysis was conducted to explore the association between parental intimate partner violence (IPV) and the mental health outcomes of their offspring. Results The results highlighted significant levels of mental and emotional challenges in children, as reported by both parents and the children themselves. Depression and youth conduct problems were more prevalent among the children compared to their parents, whereas anxiety and irritability were more commonly reported by parents than by their children. Intimate partner violence showed to be a predictor of irritability and anxiety symptoms in offspring. In terms of irritability, depression, and youth conduct problems they were identified as predictors of anxiety symptoms. Particularly, anxiety and irritability were revealed to predict youth conduct problems. Conclusion The study indicates that parental intimate partner violence (IPV) has an impact on the mental well-being of their offspring. Furthermore, it was observed that there is not only a correlation between IPV and poor mental health outcomes, but also a connection between different mental conditions, implying that children exposed to IPV are more prone to experiencing a range of mental issues. As a result, intervention programs should place emphasis on addressing the mental disorders of both parents and children. Keywords: Intimate partner violence, Mental health outcomes, Offspring, Rwanda
This study explores the motivational factors and barriers to participate in a citizen science program for malaria control in Rwanda. It assesses the changes in motivational factors over time and ...compares these factors among age and gender groups. Using a qualitative approach, this study involved 44 participants. At the initial stage, people participated in the program because of curiosity, desire to learn new things, helping others, and willingness to contribute to malaria control. As the engagement continued, other factors including ease of use of materials to report observations, the usefulness of the program, and recognition also played a crucial role in the retention of volunteers. Lack of time and information about the recruitment process, perceived low efficacy of the mosquito trap, and difficulties in collecting observations were reported as barriers to get and stay involved. Some variations in the motivational factors were observed among age and gender groups. At the initial phase, young adults and adults, as well as men and women were almost equally motivated to contribute to malaria control. For the ongoing phase, for age, the two groups were almost equally motivated by recognition of their effort. Also, the opportunity for learning was an important factor among young adults while ease of use of the materials was central for adults. For gender, the usefulness of the project, ease of use of materials, and learning opportunities were important motivational factors among women, while men were more motivated by recognition of their efforts. A framework including motivational factors and barriers at each stage of participation is presented. This framework may be used to explore motivations and barriers in future citizen science projects and might help coordinators of citizen science programs to determine whom to target, by which message, and at what stage of participation to retain volunteers in citizen science projects.
COVID-19 transmission rates are often linked to locally circulating strains of SARS-CoV-2. Here we describe 203 SARS-CoV-2 whole genome sequences analyzed from strains circulating in Rwanda from May ...2020 to February 2021. In particular, we report a shift in variant distribution towards the emerging sub-lineage A.23.1 that is currently dominating. Furthermore, we report the detection of the first Rwandan cases of the B.1.1.7 and B.1.351 variants of concern among incoming travelers tested at Kigali International Airport. To assess the importance of viral introductions from neighboring countries and local transmission, we exploit available individual travel history metadata to inform spatio-temporal phylogeographic inference, enabling us to take into account infections from unsampled locations. We uncover an important role of neighboring countries in seeding introductions into Rwanda, including those from which no genomic sequences were available. Our results highlight the importance of systematic genomic surveillance and regional collaborations for a durable response towards combating COVID-19.
Noonan syndrome in diverse populations Kruszka, Paul; Porras, Antonio R.; Addissie, Yonit A. ...
American journal of medical genetics. Part A,
September 2017, Letnik:
173, Številka:
9
Journal Article
Recenzirano
Odprti dostop
Noonan syndrome (NS) is a common genetic syndrome associated with gain of function variants in genes in the Ras/MAPK pathway. The phenotype of NS has been well characterized in populations of ...European descent with less attention given to other groups. In this study, individuals from diverse populations with NS were evaluated clinically and by facial analysis technology. Clinical data and images from 125 individuals with NS were obtained from 20 countries with an average age of 8 years and female composition of 46%. Individuals were grouped into categories of African descent (African), Asian, Latin American, and additional/other. Across these different population groups, NS was phenotypically similar with only 2 of 21 clinical elements showing a statistically significant difference. The most common clinical characteristics found in all population groups included widely spaced eyes and low‐set ears in 80% or greater of participants, short stature in more than 70%, and pulmonary stenosis in roughly half of study individuals. Using facial analysis technology, we compared 161 Caucasian, African, Asian, and Latin American individuals with NS with 161 gender and age matched controls and found that sensitivity was equal to or greater than 94% for all groups, and specificity was equal to or greater than 90%. In summary, we present consistent clinical findings from global populations with NS and additionally demonstrate how facial analysis technology can support clinicians in making accurate NS diagnoses. This work will assist in earlier detection and in increasing recognition of NS throughout the world.
Men who have sex with men (MSM) are disproportionately impacted by HIV/AIDS resulting from risky sexual behaviors. Social and contextual factors are known to mediate risk behaviors, but there is ...limited information about the prevalence of risky sexual practices of Rwandan MSM and the concomitant socio-contextual determinants making it difficult to assess implications for preventing HIV/STI transmission in this key population.
Using exploratory qualitative design, we obtained socio-contextual information regarding prevalence of risky sexual behavior and assessed implications for HIV/ STIs transmission and preventive measures taken by MSM to improve sexual health and wellbeing. Thirty MSM were recruited to participate in in-depth interviews using respondent-driven sampling from LGBT associations in Kigali. Data were analyzed using standard qualitative data analysis procedures.
Respondents' were between 18-40 years old; all completed primary education and are mostly low-socioeconomic status. Risky sexual practices were common, but differed by peculiar individual and contextual factors. Older MSM often reported occasional sexual relations with women to avoid suspicion and social stigma. Younger MSM's risky sexual practices are mostly transactional and mediated by the need for social acceptance and support. Knowledge of STIs was poor, but prevalence, especially of HPV was high. The options for improving sexual wellbeing are limited and mostly clandestine.
Risky sexual behavior of Rwandan MSM has major implications for HIV/STI transmission. An environment of intense social stigma and social isolation makes it difficult to obtain information or services to improve sexual health. Effective interventions that address individual and contextual determinants of risk and access to health services are urgently needed to limit the consequence of MSM as a bridge for HIV transmission to the general population.
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