African genetic diversity and adaptation inform a precision medicine agenda.

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.

A pooled testing strategy for identifying SARS-CoV-2 at low prevalence.

Suppressing infections of severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) will probably require the rapid identification and isolation of individuals infected with the virus on an ongoing basis. Reverse-transcription polymerase chain reaction (RT-PCR) tests are accurate but costly, which makes the regular testing of every individual expensive. These costs are a challenge for all countries around the world, but particularly for low-to-middle-income countries. Cost reductions can be achieved by pooling (or combining) subsamples and testing them in groups1-7. A balance must be struck between increasing the group size and retaining test sensitivity, as sample dilution increases the likelihood of false-negative test results for individuals with a low viral load in the sampled region at the time of the test8. Similarly, minimizing the number of tests to reduce costs must be balanced against minimizing the time that testing takes, to reduce the spread of the infection. Here we propose an algorithm for pooling subsamples based on the geometry of a hypercube that, at low prevalence, accurately identifies individuals infected with SARS-CoV-2 in a small number of tests and few rounds of testing. We discuss the optimal group size and explain why, given the highly infectious nature of the disease, largely parallel searches are preferred. We report proof-of-concept experiments in which a positive subsample was detected even when diluted 100-fold with negative subsamples (compared with 30-48-fold dilutions described in previous studies9-11). We quantify the loss of sensitivity due to dilution and discuss how it may be mitigated by the frequent re-testing of groups, for example. With the use of these methods, the cost of mass testing could be reduced by a large factor. At low prevalence, the costs decrease in rough proportion to the prevalence. Field trials of our approach are under way in Rwanda and South Africa. The use of group testing on a massive scale to monitor infection rates closely and continually in a population, along with the rapid and effective isolation of people with SARS-CoV-2 infections, provides a promising pathway towards the long-term control of coronavirus disease 2019 (COVID-19).

Incidence, Clearance, and Persistence of Penile High-Risk Human Papillomavirus Among Rwandan Men Who Have Sex With Men.

BACKGROUND: Little is known about penile high-risk human papillomavirus (hrHPV) among men who have sex with men (MSM) in low- and middle-income countries. We aimed to determine the incidence, clearance, and persistence of penile hrHPV among Rwandan MSM. METHODS: We enrolled 350 MSM (345 with valid human papillomavirus [HPV] results) aged ≥18 years. At each visit (6-12 months apart), we collected penile PreservCyt specimens and blood for HPV and HIV testing, as well as sociodemographic and behavioral variables. HPV testing was performed with the Ampfire assay. Penile hrHPV incidence and clearance per 1000 person-months of follow-up, as well as prevalent and incident persistence, were computed and compared by HIV status. RESULTS: The mean (SD) age was 27.7 (6.7) years and 19.4% were living with HIV. Penile hrHPV incidence was 34.8 (95% CI, 29.1-41.8) per 1000 person-months of follow-up. HPV-16 (11.7; 95% CI, 9.26-14.9) and HPV-59 (6.1; 95% CI, 4.52-8.39) had the highest incidence rates. Prevalent and incident persistence was 47.5% and 46.6%, respectively. HPV-66 (33.3%), HPV-52 (30.8%), and HPV-16 (29.2%) had the highest prevalent persistence and HPV-33 (53.8%), HPV-31 (46.7%), and HPV-16 (42.6%) the highest incident persistence. No differences were found by HIV status except for HPV-45 (higher in MSM with HIV). CONCLUSIONS: We found high incidence and prevalent/incident persistence of penile hrHPV among Rwandan MSM. This highlights the importance of preventive strategies for HPV-associated anogenital cancers.

Mental health outcomes of offspring exposed to parental intimate partner violence in Rwanda.

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.

The right of access to healthcare: an analysis of how legal and institutional frameworks constrain or facilitate access to healthcare for residents in border areas in the East African Community.

BACKGROUND: Despite many countries working hard to attain Universal Health Coverage (UHC) and the Health-related Sustainable Development Goals, access to healthcare services has remained a challenge for communities residing along national borders in the East Africa Community (EAC). Unlike the communities in the interior, those along national borders are more likely to face access barriers and exclusion due to low health investments and inter-state rules for non-citizens. This study explored the legal and institutional frameworks that facilitate or constrain access to healthcare services for communities residing along the national borders in EAC. METHODS: This study is part of a broader research implemented in East Africa (2018-2020), employing mixed methods. For this paper, we report data from a literature review, key informant interviews and sub-national dialogues with officials involved in planning and implementing health and migration services in EAC. The documents reviewed included regional and national treaties, conventions, policies and access rules, regulations and guidelines that affect border crossing and access to healthcare services. These were retrieved from official online and physical libraries and archives. RESULTS: Overall, the existing laws, policies and guidelines at all levels do not explicitly deal with cross border healthcare access especially for border residents, but address citizen rights and entitlements including health within national frameworks. There is no clarity on whether these rights can be enjoyed beyond one's country of citizenship. The review found examples of investments in shared health infrastructure to benefit all EAC member countries - a signal of closer cooperation for specialized health care, this had not been accompanied by access rule for citizens outside the host country. The focus on specialized care is unlikely to contribute to the every-day health care needs of border resident communities in remote areas of EAC. Nevertheless, the establishment of the EAC entail opportunities for increased collaboration and integration beyond the trade and customs union to included health care and other social services. The study established active cooperation aimed at disease surveillance and epidemic control among sub-national officials responsible for health and migration services across borders. Health insurance cards, national identification cards and official travel documents were found to constrain access to health services across the borders in EAC. CONCLUSION: In the era of UHC, there is need to take advantage of the EAC integration to revise legal and policy frameworks to leverage existing investments and facilitate cross-border access to healthcare services for communities residing along EAC borders.

Trends and correlates of intimate partner violence (IPV) victimization in Rwanda: results from the 2015 and 2020 Rwanda Demographic Health Survey (RDHS 2015 and 2020).

BACKGROUND: Intimate partner violence (IPV) is reported to be a public health issue given its magnitude and long-lasting consequences. Men are generally thought to be perpetrators of IPV, but they can also be victims. In Rwanda, the experience of men as victims has not yet been described and characterized. The aim of this study is to examine the trends and correlates of IPV victimization for men and women in Rwanda. METHODS: The data for this study were extracted from the Rwanda Demographic and Health Survey (RDHS) in 2014/15 (female: n = 8292, male: n = 3470) and 2019/2020 (female = 8574, male: n = 3590). The survey had used a structured measure of IPV (i.e. physical, sexual, or emotional) and its related demographic characteristics to collect data in a nationally representative sample of ever-married women aged 15-49 years and men aged 15-59 years. Multiple logistic regression was applied to examine the association between demographic characteristics and IPV in both women and men. RESULT: The prevalence of IPV among women increased from 40% in 2015 to 46% in 2020, while it decreased from 21 to 18% in men during the same time period. The associated factors for women IPV victimization in 2015 were: uneducated husband (Adjusted Odds Ratios (AOR) = 5.570, 95% CI 1.29-24.02), woman from the poorest household (AOR = 2.834, 95% CI 1.9-93.12), husband aged from 30 to 39 years (AOR = 2.797, 95% CI 1.517-5.158), husband consuming alcohol (AOR = 3.021, 95% CI 1.517-5.158); women involved in decisions about their own earnings (AOR = 0.576, 95% CI 0.37-0.88); and purchases (AOR = 0.472, 95% CI 0.27-0.82). However, the factors such as uneducated husbands (AOR = 3.032, 95% CI 1.117-8.24); husbands consuming alcohol (AOR = 1.712, 95% CI 2.408-4.486); a woman's involvement in decisions on her personal health (AOR = 0.443, 95% CI 0.30-0.63) and visits from her family or relatives (AOR = 0.405, 95% = 0.41-0.22) were factors of IPV in 2020. On the other hand, the associated factors for men IPV victimization in 2015 were being from richer wealth index (AOR = 0.21, 95% CI 0.04-1.04), frequency of being hit in last 12 months by other than partner (AOR = 5.49, 95% CI 1.65-18.25), woman often consuming alcohol (AOR = 13.30, 95% CI 1.9-93.12); whereas its associated factor in 2020 were women consuming alcohol (3.91, 95% CI 0.55-9.87). CONCLUSION: The present study revealed a significant increase in IPV against women, and slight decrease of IPV against men in Rwanda from 2015 to 2020, as well as its associated risks and protective factors over time. This increase needs further exploration given that government and partners have invested in policies and strategies to mitigate the IPV with limited impact. Since there is a relationship between IPV prevalence and education, the existing laws on domestic violence need to be known by the citizens. Findings from this study evidenced also visits from extended families to be a protective factor and therefore suggesting the necessity of a family and community-based approach in managing IPV in Rwanda. Future studies to assess the effectiveness of community-based approach in preventing IPV.

Oral cleaning habits and the copy number of periodontal bacteria in pregnant women and its correlation with birth outcomes: an epidemiological study in Mibilizi, Rwanda.

BACKGROUND: Since 1996, many studies have reported that periodontal disease during pregnancy may be a risk factor for preterm birth and low birth weight; however, in Africa, periodontal disease is considered a non-high-priority disease. In addition, there are few dental facilities in rural Rwanda; thus, the oral condition of pregnant women has not been investigated. The objective of this study was to assess the tooth brushing habits of pregnant women in rural Rwanda and evaluate whether periodontal bacteria in the oral cavity of pregnant women are related to birth outcomes or oral cleaning habits. METHODS: A questionnaire survey and saliva collection were conducted for pregnant women in the catchment area population of Mibilizi Hospital located in the western part of Rwanda. Real-time PCR was performed to quantitatively detect total bacteria and 4 species of periodontal bacteria. The relationship of the copy number of each bacterium and birth outcomes or oral cleaning habits was statistically analyzed. RESULTS: Among the participants, high copy numbers of total bacteria, Tannerella forsythia, and Treponema denticola were correlated with lower birth weight (p = 0.0032, 0.0212, 0.0288, respectively). The sex ratio at birth was higher in women who had high copy numbers of Porphyromonas gingivalis and T. denticola during pregnancy (p = 0.0268, 0.0043). Furthermore, regarding the correlation between oral cleaning habits and the amount of bacteria, the more frequently teeth were brushed, the lower the level of P. gingivalis (p = 0.0061); the more frequently the brush was replaced, the lower the levels of P. gingivalis and T. forsythia (p = 0.0153, 0.0029). CONCLUSIONS: This study suggested that improving tooth brushing habits may reduce the risk of periodontal disease among pregnant women in rural Rwanda. It also indicated that the amount of bacteria is associated with various birth outcomes according to the bacterial species. Both access to dental clinics and the oral cleaning habits of pregnant women should be important considerations in efforts to alleviate reproductive-related outcomes in rural Africa.

Periodontal disease is known to cause many complications. For instance, pregnant women with periodontal disease are at increased risk of preterm birth and delivering low-birth-weight infants. However, the importance of oral care during pregnancy is not an important consideration in rural Africa, where preterm birth rates and low-birth-weight rates are particularly high. Moreover, even the oral hygiene status of pregnant women has not been assessed in such areas. In this study, we focused on the amount of periodontal bacteria that cause periodontal disease and investigated the relationship between the amount of bacteria and birth outcomes. Our findings indicate that tooth brushing guidance for pregnant women and improved access to dental clinics in rural Africa may contribute to reduced rates of preterm birth and low birth weight.

Citizen science for monitoring the spatial and temporal dynamics of malaria vectors in relation to environmental risk factors in Ruhuha, Rwanda.

BACKGROUND: As part of malaria prevention and control efforts, the distribution and density of malaria mosquitoes requires continuous monitoring. Resources for long-term surveillance of malaria vectors, however, are often limited. The aim of the research was to evaluate the value of citizen science in providing insight into potential malaria vector hotspots and other malaria relevant information, and to determine predictors of malaria vector abundance in a region where routine mosquito monitoring has not been established to support vector surveillance. METHODS: A 1-year citizen science programme for malaria mosquito surveillance was implemented in five villages of the Ruhuha sector in Bugesera district, Rwanda. In total, 112 volunteer citizens were enrolled and reported monthly data on mosquitoes collected in their peridomestic environment using handmade carbon-dioxide baited traps. Additionally, they reported mosquito nuisance experienced as well as the number of confirmed malaria cases in their household. RESULTS: In total, 3793 female mosquitoes were collected, of which 10.8% were anophelines. For the entire period, 16% of the volunteers reported having at least one confirmed malaria case per month, but this varied by village and month. During the study year 66% of the households reported at least one malaria case. From a sector perspective, a higher mosquito and malaria vector abundance was observed in the two villages in the south of the study area. The findings revealed significant positive correlations among nuisance reported and confirmed malaria cases, and also between total number of Culicidae and confirmed malaria cases, but not between the numbers of the malaria vector Anopheles gambiae and malaria cases. At the sector level, of thirteen geographical risk factors considered for inclusion in multiple regression, distance to the river network and elevation played a role in explaining mosquito and malaria mosquito abundance. CONCLUSIONS: The study demonstrates that a citizen science approach can contribute to mosquito monitoring, and can help to identify areas that, in view of limited resources for control, are at higher risk of malaria.

Monitoring mosquito nuisance for the development of a citizen science approach for malaria vector surveillance in Rwanda.

BACKGROUND: Many countries, including Rwanda, have mosquito monitoring programmes in place to support decision making in the fight against malaria. However, these programmes can be costly, and require technical (entomological) expertise. Involving citizens in data collection can greatly support such activities, but this has not yet been thoroughly investigated in a rural African context. METHODS: Prior to the implementation of such a citizen-science approach, a household entomological survey was conducted in October-November 2017 and repeated one year later in Busoro and Ruhuha sectors, in southern and eastern province of Rwanda, respectively. The goal was to evaluate the perception of mosquito nuisance reported by citizens as a potential indicator for malaria vector hotspots. Firstly, mosquito abundance and species composition were determined using Centers for Disease Control and Prevention (CDC) light traps inside the houses. Secondly, household members were interviewed about malaria risk factors and their perceived level of mosquito nuisance. RESULTS: Tiled roofs, walls made of mud and wood, as well as the number of occupants in the house were predictors for the number of mosquitoes (Culicidae) in the houses, while the presence of eaves plus walls made of mud and wood were predictors for malaria vector abundance. Perception of mosquito nuisance reported indoors tended to be significantly correlated with the number of Anopheles gambiae sensu lato (s.l.) and Culicidae collected indoors, but this varied across years and sectors. At the village level, nuisance also significantly correlated with An. gambiae s.l. and total mosquito density, but only in 2018 while not in 2017. CONCLUSIONS: Perception of mosquito nuisance denoted in a questionnaire survey could be used as a global indicator of malaria vector hotspots. Hence, involving citizens in such activities can complement malaria vector surveillance and control.

Intimate partner violence as a predictor of antenatal care services utilization in Rwanda.

BACKGROUND: Although compelling evidence shows that exposure to intimate partner violence (IPV) during pregnancy is detrimental to both physical and mental health of the victims and their fetuses, studies on negative impact of IPV on antenatal care (ANC) services utilization are scarce. METHODS: The aim of the current study was to determine the impact of IPV exposure on ANC services utilization indicators such as (i) initiation of care within the first 3 months of pregnancy, (ii) receipt of at least four ANC visits and (iii) receipt of care from skilled providers among reproductive age women in Rwanda. This study used the data from the 2014-15 Rwanda Demographic and Health Survey. Multiple logistic regression was used to estimate the effects of physical and sexual IPV on the ANC services utilization indicators. RESULTS: Among married women living with their partners with at least one child aged 5 years or under (N = 5116), 17% of them reported physical violence, 22.8% reported psychological violence and 9.2% reported sexual violence. We found that there was a significant negative relationship between physical IPV and both early ANC and sufficient ANC. Women who had experienced physical violence by their partners during the preceding 12 months were less likely to receive more than four ANC visits, (O.R = 0.61, CI = 0.417-0.908) and they were less likely to attend the first ANC visits within the first 3 months (O.R = 0.656, CI = 0.445-0.967). CONCLUSION: In this study, the prevalence of IPV still remains high and there is evidence that it does have significant impact on ANC. Therefore, the results provide support for continued efforts to reduce intimate partner violence, through the improvement of screening for IPV during ANC visits.

Vitamin D Levels in Mother-Baby Pairs: A Cross-Sectional Prospective Study in a Rwandan Tertiary Hospital.

BACKGROUND: Exposure to the sunlight contributes largely to the production of vitamin D. However, vitamin D deficiency is a reality in tropical countries, despite enjoying enough sunlight, especially bearing women in their last trimester whose foetuses exclusively depend on their reserves. This work aimed at demonstrating the state of vitamin D in mother-baby pairs and associated factors in one of the University Hospitals in Rwanda. METHODS: This cross-sectional prospective study was performed on mother-baby pairs at Kigali University Hospital. Mother's serum 25-hydroxyvitamin D levels were considered as outcomes compared with demographic, clinical and biological markers. Correlation analysis was conducted in order to assess the association between serum 25-hydroxyvitamin D levels for the couple mothers-babies. RESULTS: Approximately 38% of women and 65% of neonates had deficiency in 25-hydroxyvitamin D (<20 ng/ml). The use of a vitamin D rich diet within 24 h recall (p < 0.01) or 1 week recall (p < 0.001) before delivery was associated with appropriate vitamin D levels in mothers. Interestingly, a strong positive correlation was found between maternal and neonatal serum 25-hydroxyvitamin D levels (r = 0.760). CONCLUSIONS: There was a high rate of vitamin D deficiency in mothers and their babies. Babies born from women with deficiency were likely to develop low levels of vitamin D. This stresses on the need to strengthen the interventions for preventing vitamin D deficiency in the couple mothers-babies such as supplement in vitamin D before and after delivery, improving the quality of meals and regular contact with sunlight.

Twelve-Year Trend in the Prevalence of High-Risk Human Papillomavirus Infection Among Rwandan Women Living With HIV.

BACKGROUND: We examined the trend in prevalence of high-risk human papillomavirus (hrHPV) cervical infection among Rwandan women living with HIV (WLWH) over 12 years. METHODS: Prevalence of cervical hrHPV DNA was measured in 3 studies at 3 different time periods in 3 different groups of WLWH using 3 different but comparable hrHPV tests: a MY09/MY11 PCR test in 2005 (RWISA; n = 497), careHPV in 2009-2010 (HPV Demonstration; n = 1242), and Xpert HPV test in 2016-2018 (U54; n = 4734). Prevalences were adjusted for age and CD4 cell count. RESULTS: HrHPV prevalence decreased over time from 42.5% to 32.2% to 26.5% (P < .001). CD4 cell counts improved over time (Ptrend <.001) so that the percentage of WLWH with CD4 counts of ≥500 cells/µL increased from 7.7% in 2005 to 42.2% in 2009-2010 and 61.1% in 2016-2018. Thus, after adjustment for differences in CD4 counts and age, hrHPV prevalences were more similar over time: 32.6% for RWISA, 30.6% for HPV Demonstration, and 27.1% for U54 (P = .007). CONCLUSIONS: Prevalence of hrHPV among WLWH has decreased over the past decade, most likely the result of improved immune reconstitution due to better HIV care and management in Rwanda.

Rubinstein-Taybi syndrome in diverse populations.

Rubinstein-Taybi syndrome (RSTS) is an autosomal dominant disorder, caused by loss-of-function variants in CREBBP or EP300. Affected individuals present with distinctive craniofacial features, broad thumbs and/or halluces, and intellectual disability. RSTS phenotype has been well characterized in individuals of European descent but not in other populations. In this study, individuals from diverse populations with RSTS were assessed by clinical examination and facial analysis technology. Clinical data of 38 individuals from 14 different countries were analyzed. The median age was 7 years (age range: 7 months to 47 years), and 63% were females. The most common phenotypic features in all population groups included broad thumbs and/or halluces in 97%, convex nasal ridge in 94%, and arched eyebrows in 92%. Face images of 87 individuals with RSTS (age range: 2 months to 47 years) were collected for evaluation using facial analysis technology. We compared images from 82 individuals with RSTS against 82 age- and sex-matched controls and obtained an area under the receiver operating characteristic curve (AUC) of 0.99 (p < .001), demonstrating excellent discrimination efficacy. The discrimination was, however, poor in the African group (AUC: 0.79; p = .145). Individuals with EP300 variants were more effectively discriminated (AUC: 0.95) compared with those with CREBBP variants (AUC: 0.93). This study shows that clinical examination combined with facial analysis technology may enable earlier and improved diagnosis of RSTS in diverse populations.

What do people benefit from a citizen science programme? Evidence from a Rwandan citizen science programme on malaria control.

BACKGROUND: Malaria control remains a challenge globally and in malaria-endemic countries in particular. In Rwanda, a citizen science programme has been set up to improve malaria control. Citizens are involved in collecting mosquito species and reporting mosquito nuisance. This study assessed what people benefit from such a citizen science programme. The analysis was conducted on how the citizen science programme influenced perceptions and behaviour related to malaria control. METHODS: This study employed a mixed-methods approach using dissemination workshops, a survey, and village meetings as the main data collection methods. Dissemination workshops and village meetings involved 112 volunteers of the citizen science programme and were conducted to explore: (1) the benefits of being involved in the programme and (2) different ways used to share malaria-related information to non-volunteers. The survey involved 328 people (110 volunteers and 218 non-volunteers) and was used to compare differences in malaria-related perceptions and behaviour over time (between 2017 and 2019), as well as between volunteers and non-volunteers. RESULTS: Malaria-related perceptions and behaviour changed significantly over time (between 2017 and 2019) and became favourable to malaria control. When the findings were compared between volunteers and non-volunteers, for perceptions, only perceived self-efficacy showed a significant difference between these two groups. However, volunteers showed significantly more social interaction, participation in malaria-related activities at the community level, and indoor residual spraying (IRS) acceptance. In addition, both volunteers and non-volunteers reported to have gained knowledge and skills about the use of malaria control measures in general, and mosquito species in particular among volunteers. CONCLUSION: The reported knowledge and skills gained among non-volunteers indicate a diffusion of the citizen science programme-related information in the community. Thus, the citizen science programme has the potential to provide individual and collective benefits to volunteers and society at large.

Antenatal Care Visits and Adverse Pregnancy Outcomes at a Hospital in Rural Western Province, Rwanda.

In many economically developing countries, and especially in the rural regions of sub-Saharan African coun-tries, there have been only limited investigations into the association between antenatal care (ANC) and adverse pregnancy outcomes. We obtained information on ANC and pregnancy outcomes between 2011 and 2016 from hospital files of pregnant women (n = 4,960) served at a rural hospital in Rwanda, and we examined the associa-tions between their ANC visits and the adverse pregnancy and neonatal outcomes by using univariate and mul-tivariate logistic regression models to estimate the odds ratios (ORs) and 95% confidence intervals (CIs). Most of the pregnant women had ≥ 4 ANC visits, but 39% (n = 1,911) did not have ≥ 3 visits before delivery. The prev-alence of low birth weight (LBW) and that of preterm birth (PTB) were 12% and 9.9%, respectively. Compared to the women who attended only one ANC visit, those who attended ≥ 4 ANC visits had lower risks of LBW (OR 0.20; 95%CI: 0.11-0.36) and PTB (OR 0.28; 95%CI: 0.11-0.76). Frequent ANC visits were also associ-ated with better postnatal outcomes of the newborns. Encouraging women to attend ANC visits before delivery can markedly reduce PTB-related and LBW-related complications, especially in resource-limited settings.

Cornelia de Lange syndrome in diverse populations.

Cornelia de Lange syndrome (CdLS) is a dominant multisystemic malformation syndrome due to mutations in five genes-NIPBL, SMC1A, HDAC8, SMC3, and RAD21. The characteristic facial dysmorphisms include microcephaly, arched eyebrows, synophrys, short nose with depressed bridge and anteverted nares, long philtrum, thin lips, micrognathia, and hypertrichosis. Most affected individuals have intellectual disability, growth deficiency, and upper limb anomalies. This study looked at individuals from diverse populations with both clinical and molecularly confirmed diagnoses of CdLS by facial analysis technology. Clinical data and images from 246 individuals with CdLS were obtained from 15 countries. This cohort included 49% female patients and ages ranged from infancy to 37 years. Individuals were grouped into ancestry categories of African descent, Asian, Latin American, Middle Eastern, and Caucasian. Across these populations, 14 features showed a statistically significant difference. The most common facial features found in all ancestry groups included synophrys, short nose with anteverted nares, and a long philtrum with thin vermillion of the upper lip. Using facial analysis technology we compared 246 individuals with CdLS to 246 gender/age matched controls and found that sensitivity was equal or greater than 95% for all groups. Specificity was equal or greater than 91%. In conclusion, we present consistent clinical findings from global populations with CdLS while demonstrating how facial analysis technology can be a tool to support accurate diagnoses in the clinical setting. This work, along with prior studies in this arena, will assist in earlier detection, recognition, and treatment of CdLS worldwide.

Role of individual perceptions in the consistent use of malaria preventive measures: mixed methods evidence from rural Rwanda.

BACKGROUND: Malaria preventive measures, including long-lasting insecticide-treated bet nets (LLINs), indoor residual spraying (IRS), and controlling mosquito breeding sites, are key measures to achieve malaria elimination. Still, compliance with these recommended measures remains a major challenge. By applying a novel and comprehensive model for determinants of malaria prevention behaviour, this study tests how individual perceptions influence the intentions to use malaria preventive measures and explores strategies that stimulate their consistent use. METHODS: The study was carried out in the sectors of Ruhuha and Busoro, Rwanda during October and November 2017, and these were conducted into two phases. Phase one involved a questionnaire survey (N = 742), whereas Phase two employed a qualitative approach that included nine focus group discussions, seven key informant interviews, and three in-depth interviews. RESULTS: The findings of the quantitative study showed that participants very often use LLINs (66.6%), accept IRS (73.9%), and drain stagnant water in case of presence (62%). The intentions to use malaria preventive measures were consistently driven by perceived severity, perceived self-efficacy, perceived response efficacy, and subjective norms, and hindered by perceived barriers. The intentions were also positively associated with the actual use of LLINs, acceptance of IRS, and drainage of stagnant water. There is no evidence that either not having enough LLINs (ownership of at least one bed net in the household, here referred to as availability) or having sufficient LLINs (having one LLIN per two people in the household, here referred to as accessibility) moderated the relationship between behavioural intentions and actual use of LLINs. The qualitative study indicated that participants believed malaria risk to be high and perceived a high mosquito density. They also believed that repetitive malaria episodes are caused by the perceived low effectiveness of anti-malaria medications. Lack of LLINs increased the perceived added value of LLINs, and together with the increased malaria burden increased the perceived response efficacy. Participants highlighted the need to continuously mobilize and engage community members especially those who do not use LLINs when having one, and those who do not accept the spraying activities. CONCLUSION: Malaria prevention interventions should target individual perceptions to enhance consistent use of malaria preventive measures. Three strategies to improve consistent use and acceptance of these measures are highlighted: (1) ensure access to LLINs and regular spraying activities, (2) community mobilization and (3) citizen engagement in malaria prevention activities.

CD4+ regulatory T cells and CD4+ activated T cells in new active and relapse tuberculosis.

The aim of the present study was to examine characteristics of tuberculosis (TB) patients with different clinical forms and to study the frequency of Regulatory T cells (Treg cells) and Activated T cells in patients with new active and relapse TB. Forty-five pulmonary TB patients and a control group of 15 healthy individuals were enrolled in this study. Of the 45 TB patients, 15 were new cases with drug-susceptible active TB and 30 were relapsed cases (15 drug-susceptible and 15 multidrug resistant-TB). The age of study participants ranged from 21 to 68 years old. According to sex presentation, males were appreciably highly affected than females with a sex ratio of 2. The patients reported a mean recent weight loss of 8.9 kg. The Erythrocyte Sedimentation Rate was high in TB group, far exceeding the normal value. The results revealed that the number of CD3+ CD4+ T-cells significantly decreased whereas the level of blood Treg cells and expression of activation markers CD38 and HLA-DR on CD4+ T-cells significantly increased in TB group compared with the control group (p<0.05). The frequency of Treg cells was significantly higher in the TB group than the control group. Both the patients with new active TB and relapse TB demonstrated significantly higher levels of CD4+FoxP3+ Treg compared to healthy subjects (p<0.05). A high and significant percentage of Treg cells were found in patients with DS active TB than patients with MDR relapse TB. Interestingly, the frequency of CD4+FoxP3+ cells also differs according to the sputum smear microscopy status. The presence of high numbers of Treg cells and corresponding high immune activation may be an unfavourable factor that can predispose individuals to different clinical forms of TB, including relapse TB.