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Disparities in data underlying clinical genomic interpretation is an acknowledged problem, but there is a paucity of data demonstrating it. The All of Us Research Program is collecting data including whole-genome sequences, health records, and surveys for at least a million participants with diverse ancestry and access to healthcare, representing one of the largest biomedical research repositories of its kind. Here, we examine pathogenic and likely pathogenic variants that were identified in the All of Us cohort. The European ancestry subgroup showed the highest overall rate of pathogenic variation, with 2.26% of participants having a pathogenic variant. Other ancestry groups had lower rates of pathogenic variation, including 1.62% for the African ancestry group and 1.32% in the Latino/Admixed American ancestry group. Pathogenic variants were most frequently observed in genes related to Breast/Ovarian Cancer or Hypercholesterolemia. Variant frequencies in many genes were consistent with the data from the public gnomAD database, with some notable exceptions resolved using gnomAD subsets. Differences in pathogenic variant frequency observed between ancestral groups generally indicate biases of ascertainment of knowledge about those variants, but some deviations may be indicative of differences in disease prevalence. This work will allow targeted precision medicine efforts at revealed disparities.

The African turquoise killifish is an exciting new vertebrate model for aging studies. A significant challenge for any model organism is the control over its diet in space and time. To address this challenge, we created an automated and networked fish feeding system. Our automated feeder is designed to be open-source, easily transferable, and built from widely available components. Compared to manual feeding, our automated system is highly precise and flexible. As a proof of concept for the feeding flexibility of these automated feeders, we define a favorable regimen for growth and fertility for the African killifish and a dietary restriction regimen where both feeding time and quantity are reduced. We show that this dietary restriction regimen extends lifespan in males (but not in females) and impacts the transcriptomes of killifish livers in a sex-specific manner. Moreover, combining our automated feeding system with a video camera, we establish a quantitative associative learning assay to provide an integrative measure of cognitive performance for the killifish. The ability to precisely control food delivery in the killifish opens new areas to assess lifespan and cognitive behavior dynamics and to screen for dietary interventions and drugs in a scalable manner previously impossible with traditional vertebrate model organisms.

The Major Histocompatibility Complex (MHC) makes the largest genetic contribution to multiple sclerosis (MS) susceptibility, with 32 independent effects across the region explaining 20% of the heritability in European populations. Variation is high across populations with allele frequency differences and population-specific risk alleles identified. We sought to identify MHC-specific MS susceptibility variants and assess the effect of ancestral risk modification within 2652 Latinx and Hispanic individuals as well as 2435 Black and African American individuals. We have identified several novel susceptibility alleles which are rare in European populations including HLA-B*53:01, and we have utilized the differing linkage disequilibrium patterns inherent to these populations to identify an independent role for HLA-DRB1*15:01 and HLA-DQB1*06:02 on MS risk. We found a decrease in Native American ancestry in MS cases vs controls across the MHC, peaking near the previously identified MICB locus with a decrease of ~5.5% in Hispanics and ~0.4% in African Americans. We have identified several susceptibility variants, including within the MICB gene region, which show global ancestry risk modification and indicate ancestral differences which may be due in part to correlated environmental factors. We have also identified several susceptibility variants for which MS risk is modified by local ancestry and indicate true ancestral genetic differences; including HLA-DQB1*06:02 for which MS risk for European allele carriers is almost two times the risk for African allele carriers. These results validate the importance of investigating MS susceptibility at an ancestral level and offer insight into the epidemiology of MS phenotypic diversity.

Abstract Background Despite it being a global pandemic, there is little research examining the clinical features of severe COVID-19 in sub-Saharan Africa. This study aims to identify predictors of mortality in COVID-19 patients at Kinshasa Medical Center (KMC). Methods In this retrospective, observational, cohort study carried out at the Kinshasa Medical Center (KMC) between March 10, 2020 and July 10, 2020, we included all adult inpatients (≥ 18 years old) with a positive COVID-19 PCR result. The end point of the study was survival. The study population was dichotomized into survivors and non-survivors group. Kaplan–Meier plot was used for survival analyses. The Log-Rank test was employed to compare the survival curves. Predictors of mortality were identified by Cox regression models. The significance level of p value was set at 0.05. Results 432 patients with confirmed COVID-19 were identified and only 106 (24.5%) patients with moderate, severe or critical illness (mean age 55.6 ± 13.2 years old, 80.2% were male) were included in this study, of whom 34 (32%) died during their hospitalisation. The main complications of the patients included ARDS in 59/66 (89.4%) patients, coagulopathy in 35/93 (37.6%) patients, acute cardiac injury in 24/98 (24.5%) patients, AKI in 15/74 (20.3%) patients and secondary infection in 12/81 (14.8%) patients. The independent predictors of mortality were found to be age [aHR 1.38; 95% CI 1.10–1.82], AKI stage 3 [aHR 2.51; 95% CI 1.33–6.80], proteinuria [aHR 2.60; 95% CI 1.40–6.42], respiratory rate [aHR 1.42; 95% CI 1.09–1.92] and procalcitonin [aHR 1.08; 95% CI 1.03–1.14]. The median survival time of the entire group was 12 days. The cumulative survival rate of COVID-19 patients was 86.9%, 65.0% and 19.9% respectively at 5, 10 and 20 days. Levels of creatinine (p = 0.012), were clearly elevated in non-survivors compared with survivors throughout the clinical course and increased deterioration. Conclusion Mortality rate of COVID-19 patients is high, particularly in intubated patients and is associated with age, respiratory rate, proteinuria, procalcitonin and acute kidney injury.

Background: Primary health care is the first point of contact for patients from refugee backgrounds in the Australian health system. Sociocultural factors, including beliefs and value systems, are salient determinants of health literacy and access to primary health care services. Although African refugees in Australia have diverse sociocultural backgrounds, little is known about the influence of sociocultural factors on their experiences of accessing primary health care services. Guided by the theoretical framework of access to health care, this study examined from the perspective of African refugees how culturally and religiously conditioned, constructed and bound health beliefs, knowledge and practices influence their experiences of access to, acceptance and use of primary health care services and information in Australia., Methods: This exploratory, qualitative study involved 19 African refugees from nine countries living in New South Wales, Australia. Semi-structured interviews were conducted and recorded using Zoom software. The interviews were transcribed verbatim and analysed using a bottom-up thematic analytical approach for theme generation., Results: Four main themes were identified. The themes included: participants' experiences of services as inaccessible and monocultural and providing information in a culturally unsafe and insensitive manner; the impact of the clinical care environment; meeting expectations and needs; and overcoming access challenges and reclaiming power and autonomy through familiar means. The findings generally support four dimensions in the access to health care framework, including approachability, acceptability, availability and accommodation and appropriateness., Conclusion: African refugees experience significant social and cultural challenges in accessing primary health care services. These challenges could be due to a lack of literacy on the part of health services and their providers in servicing the needs of African refugees. This is an important finding that needs to be addressed by the Australian health care system and services. Enhancing organisational health literacy through evidence-informed strategies in primary health systems and services can help reduce disparities in health access and outcomes that may be exacerbated by cultural, linguistic and religious differences., (© 2024. The Author(s).)

Hypothesis/purpose: The prevalence of trochlear dysplasia is common in different populations., Background: The prevalence of trochlear dysplasia in the general population, categorised by sex, race, age, and body mass index, has been sparse. This study aimed to define the prevalence of trochlear dysplasia based on the latter categories., Study Design: Cohort retrospective study., Methods: 1162 skeletal mature healthy femora were obtained from a CT-scan-based modelling system (SOMA). Thin slice CT scans were acquired exclusively for medical indications such as polytrauma (20%), CT angiography (70%) and other reasons (i.e. Total Joint Replacement) (10%). Trochlear dysplasia was measured using Pfirmann's method. Patient demographics such as age, race and sex were recorded., Results: The overall prevalence of trochlear dysplasia is 4.5% and is far more common in Asian female patients compared to Caucasian, African and Middle Eastern knees., Conclusion: Overall, the prevalence of dysplasia in the general population was determined to be 4.5%, with female patients being more likely to suffer from the condition. Patients of Asian and Caucasian race were more likely to have trochlear dysplasia, while Middle Eastern male patients displayed more dysplastic values than their female counterparts., (© 2024. The Author(s).)

Purpose: This study was conducted to investigate the root canal anatomy of maxillary first molars in Black South Africans., Methods: Micro-computed tomography was used to investigate 101 maxillary first molars (53 teeth from the right, 48 from the left; 50 male and 51 female teeth). The number of root canals in each tooth was determined, and the relationship between side, sex and age was analyzed using chi-squared test. To determine intra- and inter-observer reliability, Cohen's kappa coefficients were calculated., Results: Intra- and inter-rater agreements of 96.92% and 98.08% were achieved, respectively. Most teeth contained either three or four canals, but a second, third and fourth mesio-buccal canal was found in 60.39%, 5.94% and 0.99% of teeth, respectively. The disto-buccal and palatal roots contained predominantly single canals, but additional canals were noted in 2.97% and 1.98% of teeth. Four canals were common in females and teeth on the right side often contained a second mesio-buccal canal. However, the prevalence of a third mesio-buccal canal was higher in males than in females., Conclusion: The teeth studied showed diversity and variations between sexes and arch sides. These findings will aid clinicians in endodontic treatment and will be applicable for educational purposes.

Abstract Background Globally, cardiovascular disease (CVD) accounts for 45% of all chronic non-communicable disease deaths and 31% of all deaths. CVD has remained the primary cause of death in the world for the past fifteen years. Compared to other continents, CVD and its risk factors are highly prevalent in Africa, but the continent also displays a low-level of knowledge and awareness of CVD, and poor perception of its risk factors. Little research has been done on the connection between the daily lived experiences of African people and the high prevalence and poor perception of CVD and its risk factors on the African continent. The aim of this study is to provide an in-depth understanding of the daily, lived experiences of African people and the connections between these experiences and the prevention, control, and management of CVD and its risk factors. Methods A systematic search was performed in PubMed, CINAHL, EMBASE, Psych INFO, and Web of Science databases to identify published English qualitative studies of CVD and its risk factors. Qualitative metasynthesis included structured techniques of data immersion and quality appraisal, thematic synthesis, and reciprocal translation. Results Seven studies met the inclusion criteria. Four major themes were identified from the metasynthesis: 1) understanding and beliefs about CVD; 2) perceived causes/risk factors for CVD; 3) understanding and belief about obesity; 4) perceived treatment options for CVD. The metasynthesis identified a consistent disconnect among African people between seeing CVD as a deadly and chronic disease and their perceptions of the minimal signs and symptoms of the disease in the early stages. This was further compounded by the gap between traditional healers and health care professionals. Conclusions Perceptions of CVD, its risk factors, and treatments were influenced by religious and cultural factors. Given the minimal signs and symptoms experienced in the early stages of the disease, there was a consistent disconnect among African people between seeing CVD as a deadly and chronic illness. Further investigations of the religious and cultural influences and educational programs related to these areas of disconnect are needed to improve the knowledge, attitudes, and beliefs of African people.

Background: Despite it being a global pandemic, there is little research examining the clinical features of severe COVID-19 in sub-Saharan Africa. This study aims to identify predictors of mortality in COVID-19 patients at Kinshasa Medical Center (KMC).Methods: In this retrospective, observational, cohort study carried out at the Kinshasa Medical Center (KMC) between March 10, 2020 and July 10, 2020, we included all adult inpatients (≥ 18 years old) with a positive COVID-19 PCR result. The end point of the study was survival. The study population was dichotomized into survivors and non-survivors group. Kaplan-Meier plot was used for survival analyses. The Log-Rank test was employed to compare the survival curves. Predictors of mortality were identified by Cox regression models. The significance level of p value was set at 0.05.Results: 432 patients with confirmed COVID-19 were identified and only 106 (24.5%) patients with moderate, severe or critical illness (mean age 55.6 ± 13.2 years old, 80.2% were male) were included in this study, of whom 34 (32%) died during their hospitalisation. The main complications of the patients included ARDS in 59/66 (89.4%) patients, coagulopathy in 35/93 (37.6%) patients, acute cardiac injury in 24/98 (24.5%) patients, AKI in 15/74 (20.3%) patients and secondary infection in 12/81 (14.8%) patients. The independent predictors of mortality were found to be age [aHR 1.38; 95% CI 1.10-1.82], AKI stage 3 [aHR 2.51; 95% CI 1.33-6.80], proteinuria [aHR 2.60; 95% CI 1.40-6.42], respiratory rate [aHR 1.42; 95% CI 1.09-1.92] and procalcitonin [aHR 1.08; 95% CI 1.03-1.14]. The median survival time of the entire group was 12 days. The cumulative survival rate of COVID-19 patients was 86.9%, 65.0% and 19.9% respectively at 5, 10 and 20 days. Levels of creatinine (p = 0.012), were clearly elevated in non-survivors compared with survivors throughout the clinical course and increased deterioration.Conclusion: Mortality rate of COVID-19 patients is high, particularly in intubated patients and is associated with age, respiratory rate, proteinuria, procalcitonin and acute kidney injury. [ABSTRACT FROM AUTHOR]

Background: Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease affecting over 300,000 people worldwide. It is characterized by the progressive decline of the nervous system that leads to the weakening of muscles which impacts physical function. Approximately, 15% of individuals diagnosed with ALS have a known genetic variant that contributes to their disease. As therapies that slow or prevent symptoms continue to develop, such as antisense oligonucleotides, it is important to discover novel genes that could be targets for treatment. Additionally, as cohorts continue to grow, performing analyses in ALS subtypes, such as primary lateral sclerosis (PLS), becomes possible due to an increase in power. These analyses could highlight novel pathways in disease manifestation., Methods: Building on our previous discoveries using rare variant association analyses, we conducted rare variant burden testing on a substantially larger multi-ethnic cohort of 6,970 ALS patients, 166 PLS patients, and 22,524 controls. We used intolerant domain percentiles based on sub-region Residual Variation Intolerance Score (subRVIS) that have been described previously in conjunction with gene based collapsing approaches to conduct burden testing to identify genes that associate with ALS and PLS., Results: A gene based collapsing model showed significant associations with SOD1, TARDBP, and TBK1 (OR = 19.18, p = 3.67 × 10 -39 ; OR = 4.73, p = 2 × 10 -10 ; OR = 2.3, p = 7.49 × 10 -9 , respectively). These genes have been previously associated with ALS. Additionally, a significant novel control enriched gene, ALKBH3 (p = 4.88 × 10 -7 ), was protective for ALS in this model. An intolerant domain-based collapsing model showed a significant improvement in identifying regions in TARDBP that associated with ALS (OR = 10.08, p = 3.62 × 10 -16 ). Our PLS protein truncating variant collapsing analysis demonstrated significant case enrichment in ANTXR2 (p = 8.38 × 10 -6 )., Conclusions: In a large multi-ethnic cohort of 6,970 ALS patients, collapsing analyses validated known ALS genes and identified a novel potentially protective gene, ALKBH3. A first-ever analysis in 166 patients with PLS found a candidate association with loss-of-function mutations in ANTXR2., (© 2024. The Author(s).)

Background: Human immunodeficiency virus (HIV) and antiretroviral treatment (ART) are both associated with hypercoagulability. Altered clot properties could be a potential mechanism thereof. We aimed to investigate the association of HIV and ART, with fibrinogen and plasma clot properties in a group of Black South Africans., Methods: At baseline, 151 newly diagnosed people living with HIV (PLWH) and 176 controls were recruited. Some PLWH subsequently commenced with ARTs (n = 70) while others remained ART-naïve (n = 81). Fibrinogen and clot properties (turbidity assay) were investigated from baseline to 5-year follow-up. A sub-group of 21 women (n = 10 ART-treated; n = 11 ART-naïve) with HIV was systematically selected and matched with 12 controls, and additional clot properties (rheometry, permeability and fibre diameter) were investigated., Results: Fibrinogen was lower in the HIV groups compared to the controls, while % γ' fibrinogen was higher. PLWH had shorter lag times and lower maximum absorbance than the controls (p<0.05). Their CLTs on the other hand were longer. Most variables increased over time in all groups, but differences in the degree of change over time was observed for lag time (p = 0.024) and permeability (p = 0.03). Participants who commenced with ART had a tendency of delayed clot formation (p = 0.08) and increased clot permeability (p = 0.005)., Conclusion: PLWH had lower total fibrinogen concentration and formed less dense clots. They also formed clots that were more difficult to lyse, which likely not resulted from altered clot properties. ART use (NNRTI's) had a moderately protective effect, delaying clot formation, and increasing clot permeability., Competing Interests: None of the authors have any competing interests to declare., (Copyright: © 2024 Bakali et al. This is an open access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.)

Abstract: Despite the global unrelated donor (URD) registry size, the degree to which URD availability is a transplant barrier is not established. We evaluated the availability of 3,843 URDs requested for 455 diverse adult patients (predominantly with acute leukemia). URDs for non-Europeans were more likely to be domestic and had markedly lower Donor Readiness scores. Of URDs requested for confirmatory HLA-typing (CT) alone (ie, without simultaneous workup), 1,894 of 3,529 (54%) were available. Availability of domestic URDs was 45%. Donor Readiness score was highly predictive of CT availability. More non-European patients (n = 120) than Europeans (n = 335) had >10 URDs requested and <5 available. Of workup requests (after CT or CT-workup), <70% (604/889 [68%]) were available. More non-Europeans had <2 URDs available. URD availability for CT was markedly worse for non-Europeans, with availabilities for African, non-Black Hispanic, and Asian patients being 150/458 (33%), 120/258 (47%), and 119/270 (44%), respectively, with further decrements in URD workup availability. Our data suggest the functional size of the URD pool is much smaller than appreciated, mandating major operational changes for transplant centers and donor registries. Likelihood of donor availability should have a high priority in donor selection. Considering patient ancestry and URD Donor Readiness scores, centers should pursue, and registries permit, simultaneous pursuit of many URDs and abandon futile searches. Patients should be informed about their likelihood of donor availability and alternative options. Finally, although registries should address high URD attrition and speed procurement, use of all HLA-disparate graft types is needed to facilitate timely transplant for all., (© 2024 by The American Society of Hematology. Licensed under Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International (CC BY-NC-ND 4.0), permitting only noncommercial, nonderivative use with attribution. All other rights reserved.)

Objectives: This study aims to investigate the incidence, associated factors and interventions to address teen pregnancy involvement (TPI) among African, Caribbean and Black (ACB) adolescents in North America., Design: We conducted a scoping review of the literature, guided by the social-ecological model., Data Sources: Studies were retrieved from databases such as Ovid Medline, Ovid Embase, CINAHL, CAB Direct and Google Scholar and imported into COVIDENCE for screening., Eligibility Criteria: The Joanna Briggs Institute scoping reviews protocol guided the establishment of eligibility criteria. Included studies focused on rates, associated factors and interventions related to TPI among ACB boys and girls aged 10-19 in North America. The publication time frame was restricted to 2010-2023, encompassing both peer-reviewed and non-peer-reviewed studies with diverse settings., Data Extraction and Synthesis: Data were extracted from 32 articles using a form developed by the principal author, focusing on variables aligned with the research question., Results: The scoping review revealed a dearth of knowledge in Canadian and other North American literature on TPI in ACB adolescents. Despite an overall decline in teen pregnancy rates, disparities persist, with interventions such as postpartum prescription of long-acting birth control and teen mentorship programmes proving effective., Conclusion: The findings highlight the need for increased awareness, research and recognition of male involvement in adolescent pregnancies. Addressing gaps in housing, employment, healthcare, sexual health education and health systems policies for marginalised populations is crucial to mitigating TPI among ACB adolescents., Impact: The review underscores the urgent need for more knowledge from other North American countries, particularly those with growing ACB migrant populations., Competing Interests: Competing interests: None declared., (© Author(s) (or their employer(s)) 2024. Re-use permitted under CC BY-NC. No commercial re-use. See rights and permissions. Published by BMJ.)

Genotype imputation is now fundamental for genome-wide association studies but lacks fairness due to the underrepresentation of references from non-European ancestries. The state-of-the-art imputation reference panel released by the Trans-Omics for Precision Medicine (TOPMed) initiative improved the imputation of admixed African-ancestry and Hispanic/Latino samples, but imputation for populations primarily residing outside of North America may still fall short in performance due to persisting underrepresentation. To illustrate this point, we imputed the genotypes of over 43,000 individuals across 123 populations around the world and identified numerous populations where imputation accuracy paled in comparison to that of European-ancestry populations. For instance, the mean imputation r-squared (Rsq) for variants with minor allele frequencies between 1% and 5% in Saudi Arabians (n = 1,061), Vietnamese (n = 1,264), Thai (n = 2,435), and Papua New Guineans (n = 776) were 0.79, 0.78, 0.76, and 0.62, respectively, compared to 0.90-0.93 for comparable European populations matched in sample size and SNP array content. Outside of Africa and Latin America, Rsq appeared to decrease as genetic distances to European-ancestry reference increased, as predicted. Using sequencing data as ground truth, we also showed that Rsq may over-estimate imputation accuracy for non-European populations more than European populations, suggesting further disparity in accuracy between populations. Using 1,496 sequenced individuals from Taiwan Biobank as a second reference panel to TOPMed, we also assessed a strategy to improve imputation for non-European populations with meta-imputation, but this design did not improve accuracy across frequency spectra. Taken together, our analyses suggest that we must ultimately strive to increase diversity and size to promote equity within genetics research., Competing Interests: Declaration of interests The authors declare no competing interests., (Copyright © 2024 American Society of Human Genetics. Published by Elsevier Inc. All rights reserved.)

While cholesterol is essential, a high level of cholesterol is associated with the risk of cardiovascular diseases. Genome-wide association studies (GWASs) have proven successful in identifying genetic variants that are linked to cholesterol levels, predominantly in white European populations. However, the extent to which genetic effects on cholesterol vary across different ancestries remains largely unexplored. Here, we estimate cross-ancestry genetic correlation to address questions on how genetic effects are shared across ancestries. We find significant genetic heterogeneity between ancestries for cholesterol traits. Furthermore, we demonstrate that single nucleotide polymorphisms (SNPs) with concordant effects across ancestries for cholesterol are more frequently found in regulatory regions compared to other genomic regions. Indeed, the positive genetic covariance between ancestries is mostly driven by the effects of the concordant SNPs, whereas the genetic heterogeneity is attributed to the discordant SNPs. We also show that the predictive ability of the concordant SNPs is significantly higher than the discordant SNPs in the cross-ancestry polygenic prediction. The list of concordant SNPs for cholesterol is available in GWAS Catalog. These findings have relevance for the understanding of shared genetic architecture across ancestries, contributing to the development of clinical strategies for polygenic prediction of cholesterol in cross-ancestral settings., (© 2024. The Author(s), under exclusive licence to Springer-Verlag GmbH Germany, part of Springer Nature.)

How human genetic variation contributes to vaccine effectiveness in infants is unclear, and data are limited on these relationships in populations with African ancestries. We undertook genetic analyses of vaccine antibody responses in infants from Uganda (n = 1391), Burkina Faso (n = 353) and South Africa (n = 755), identifying associations between human leukocyte antigen (HLA) and antibody response for five of eight tested antigens spanning pertussis, diphtheria and hepatitis B vaccines. In addition, through HLA typing 1,702 individuals from 11 populations of African ancestry derived predominantly from the 1000 Genomes Project, we constructed an imputation resource, fine-mapping class II HLA-DR and DQ associations explaining up to 10% of antibody response variance in our infant cohorts. We observed differences in the genetic architecture of pertussis antibody response between the cohorts with African ancestries and an independent cohort with European ancestry, but found no in silico evidence of differences in HLA peptide binding affinity or breadth. Using immune cell expression quantitative trait loci datasets derived from African-ancestry samples from the 1000 Genomes Project, we found evidence of differential HLA-DRB1 expression correlating with inferred protection from pertussis following vaccination. This work suggests that HLA-DRB1 expression may play a role in vaccine response and should be considered alongside peptide selection to improve vaccine design., (© 2024. The Author(s).)

Background: Globally, cardiovascular disease (CVD) accounts for 45% of all chronic non-communicable disease deaths and 31% of all deaths. CVD has remained the primary cause of death in the world for the past fifteen years. Compared to other continents, CVD and its risk factors are highly prevalent in Africa, but the continent also displays a low-level of knowledge and awareness of CVD, and poor perception of its risk factors. Little research has been done on the connection between the daily lived experiences of African people and the high prevalence and poor perception of CVD and its risk factors on the African continent. The aim of this study is to provide an in-depth understanding of the daily, lived experiences of African people and the connections between these experiences and the prevention, control, and management of CVD and its risk factors.Methods: A systematic search was performed in PubMed, CINAHL, EMBASE, Psych INFO, and Web of Science databases to identify published English qualitative studies of CVD and its risk factors. Qualitative metasynthesis included structured techniques of data immersion and quality appraisal, thematic synthesis, and reciprocal translation.Results: Seven studies met the inclusion criteria. Four major themes were identified from the metasynthesis: 1) understanding and beliefs about CVD; 2) perceived causes/risk factors for CVD; 3) understanding and belief about obesity; 4) perceived treatment options for CVD. The metasynthesis identified a consistent disconnect among African people between seeing CVD as a deadly and chronic disease and their perceptions of the minimal signs and symptoms of the disease in the early stages. This was further compounded by the gap between traditional healers and health care professionals.Conclusions: Perceptions of CVD, its risk factors, and treatments were influenced by religious and cultural factors. Given the minimal signs and symptoms experienced in the early stages of the disease, there was a consistent disconnect among African people between seeing CVD as a deadly and chronic illness. Further investigations of the religious and cultural influences and educational programs related to these areas of disconnect are needed to improve the knowledge, attitudes, and beliefs of African people. [ABSTRACT FROM AUTHOR]

Introduction: Complex challenges amongst ageing cohorts of adolescents and adults living with perinatally acquired HIV (PaHIV) may impact on hospitalisation. We report hospitalisation rates and explored predictive factors for hospitalisation in adolescents and adults (10-35 years) living with PaHIV in England., Method: Retrospective observational cohort study over a three-year period 2016-2019. Data collected included cause and duration of hospitalisation, HIV viral load and CD4 lymphocyte count. The primary outcome was overnight hospitalisation. Patients exited at study end/ transfer of care (TOC)/ loss to follow up (LTFU) or death. Maternity/hospital admissions at other centres were excluded. Admission rates per 100 person-years (95% CI) were calculated by age group. Negative binomial regression with generalized estimating equations was performed., Results: 255 patients contributed 689 person-years of follow up. 56% were female and 83% were of a Black, Black British, Caribbean or African ethnicity. At baseline, the median age was 19 years (IQR 16-22). 36 individuals experienced a total of 62 admissions which resulted in 558 overnight stays (median stay was 5 nights). One person died (lymphoma), six had TOC and one was LTFU by the end of the three-year study period. Crude incidence of admission for the whole cohort was 9.0 per 100 PY (6.9-11.6). The respective crude incidence rates were 1.5 PY (0.0-8.2) in those aged 10-14 years and 3.5 PY (1.5-7.0) in the 15-19-year-olds. In those aged 20-24 years it was 14.5 PY (10.1-20.2) and in those >25 years the crude incidence rate was 11.7 PY (6.9-18.5). Factors significantly associated with admission were a CD4 lymphocyte count <200 cells/uL, adjusted IRR 4.0 (1.8-8.8) and a history of a CDC-C diagnosis, adjusted IRR 2.9 (1.6-5.3). 89% admissions were HIV-related: 45% new/current CDC-C diagnoses, 76% due to infection., Conclusions: Hospitalisation rates were four-fold higher in adults (>20 years of age) compared to adolescents (10-19-year-olds). The continuing challenges experienced by PaHIV youth require enhanced multidisciplinary support throughout adulthood., Competing Interests: The authors have declared that no competing interests exist., (Copyright: © 2024 Johnson et al. This is an open access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.)

Surveillance to better detect and respond to new pathogens remains a major challenge for global public health. The Pasteur Network recently held a brainstorming workshop located in Cameroon attended by Pasteur epidemiological teams from Niger, Central African Republic (CAR), Cameroon, Senegal, and Madagascar to discuss how the Pasteur Network in Africa could use the lessons of COVID-19 to set-up a pilot sentinel surveillance scheme given its expertise and involvement during the pandemic. The possibility of coupling sentinel syndromic and biological surveillance already implemented for influenza surveillance with the recent sequencing capacity put in place by the AFROSCREEN program prompted us to consider strengthening surveillance tools to target "Pathogen X" detection in Africa. The perspective project provided by the Pasteur Network teams and shared with other partners of the AFROSCREEN program will target strengthening of the diagnosis of severe acute respiratory infections (IRAS) and the surveillance of IRAS, the evaluation of the impact of SARS-CoV-2 on the epidemiology of IRAS, and the addition of the detection of new pathogens, called "Pathogen X," based on sequencing capacity and epidemiological criteria from One Health approaches., Competing Interests: The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest., (Copyright © 2024 Tejiokem, Barry, Ratovoson, Yambiyo, Hamidou Lazoumar, Herrant, Madaha and Richard.)

Background: In vitro and in vivo studies have shown that certain cytokines and hormones may play a role in the development and progression of type 2 diabetes (T2D). However, studies on their role in T2D in humans are scarce. We evaluated associations between 11 circulating cytokines and hormones with T2D among a population of sub-Saharan Africans and tested for causal relationships using Mendelian randomization (MR) analyses., Methods: We used logistic regression analysis adjusted for age, sex, body mass index, and recruitment country to regress levels of 11 cytokines and hormones (adipsin, leptin, visfatin, PAI-1, GIP, GLP-1, ghrelin, resistin, IL-6, IL-10, IL-1RA) on T2D among Ghanaians, Nigerians, and Kenyans from the Africa America Diabetes Mellitus study including 2276 individuals with T2D and 2790 non-T2D individuals. Similar linear regression models were fitted with homeostatic modelling assessments of insulin sensitivity (HOMA-S) and β-cell function (HOMA-B) as dependent variables among non-T2D individuals (n = 2790). We used 35 genetic variants previously associated with at least one of these 11 cytokines and hormones among non-T2D individuals as instrumental variables in univariable and multivariable MR analyses. Statistical significance was set at 0.0045 (0.05/11 cytokines and hormones)., Results: Circulating GIP and IL-1RA levels were associated with T2D. Nine of the 11 cytokines and hormones (exceptions GLP-1 and IL-6) were associated with HOMA-S, HOMA-B, or both among non-T2D individuals. Two-stage least squares MR analysis provided evidence for a causal effect of GIP and IL-RA on HOMA-S and HOMA-B in multivariable analyses (GIP ~ HOMA-S β =  - 0.67, P-value = 1.88 × 10 -6 and HOMA-B β = 0.59, P-value = 1.88 × 10 -5 ; IL-1RA ~ HOMA-S β =  - 0.51, P-value = 8.49 × 10 -5 and HOMA-B β = 0.48, P-value = 5.71 × 10 -4 ). IL-RA was partly mediated via BMI (30-34%), but GIP was not. Inverse variance weighted MR analysis provided evidence for a causal effect of adipsin on T2D (multivariable OR = 1.83, P-value = 9.79 × 10 -6 ), though these associations were not consistent in all sensitivity analyses., Conclusions: The findings of this comprehensive MR analysis indicate that circulating GIP and IL-1RA levels are causal for reduced insulin sensitivity and increased β-cell function. GIP's effect being independent of BMI suggests that circulating levels of GIP could be a promising early biomarker for T2D risk. Our MR analyses do not provide conclusive evidence for a causal role of other circulating cytokines in T2D among sub-Saharan Africans., (© 2023. This is a U.S. Government work and not under copyright protection in the US; foreign copyright protection may apply.)

Diabetes mellitus (DM) increases the risk of developing tuberculosis infection (TBI). However, the evidence on the burden and phenotypic characteristics of TBI in African patients with DM is limited. This study aimed to determine the prevalence and characterisation of TBI in native African patients living with DM. We searched PubMed, EMBASE, and African Journals Online for original studies reporting information on the prevalence and characteristics of TBI in adult Africans with DM. A forest plot was used to describe the pooled prevalence estimate of TBI and the corresponding 95% confidence intervals (CI). Six studies conducted in four African countries involving 721 participants with DM were included in this systematic review. The pooled prevalence estimate of TBI was 40% (95% CI 20-60%, I 2  = 98.52%, p < 0.001). Age ≥ 40 years and glycated haemoglobin levels independently predicted TBI positivity in patients with DM in three studies. Africans with DM have a high prevalence of TBI, especially those who are older or with poorly controlled diabetes. This justifies the need for studies to explore how to screen and manage TBI to avert the progression to active TB disease., (© 2023. The Author(s).)

Esophageal squamous cell carcinoma (ESCC) has a high disease burden in sub-Saharan Africa and has a very poor prognosis. Genome-wide association studies (GWASs) of ESCC in predominantly East Asian populations indicate a substantial genetic contribution to its etiology, but no genome-wide studies have been done in populations of African ancestry. Here, we report a GWAS in 1,686 African individuals with ESCC and 3,217 population-matched control individuals to investigate its genetic etiology. We identified a genome-wide-significant risk locus on chromosome 9 upstream of FAM120A (rs12379660, p = 4.58 × 10 -8 , odds ratio = 1.28, 95% confidence interval = 1.22-1.34), as well as a potential African-specific risk locus on chromosome 2 (rs142741123, p = 5.49 × 10 -8 ) within MYO1B. FAM120A is a component of oxidative stress-induced survival signals, and the associated variants at the FAM120A locus co-localized with highly significant cis-eQTLs in FAM120AOS in both esophageal mucosa and esophageal muscularis tissue. A trans-ethnic meta-analysis was then performed with the African ESCC study and a Chinese ESCC study in a combined total of 3,699 ESCC-affected individuals and 5,918 control individuals, which identified three genome-wide-significant loci on chromosome 9 at FAM120A (rs12379660, p meta  = 9.36 × 10 -10 ), chromosome 10 at PLCE1 (rs7099485, p meta  = 1.48 × 10 -8 ), and chromosome 22 at CHEK2 (rs1033667, p meta  = 1.47 × 10 -9 ). This indicates the existence of both shared and distinct genetic risk loci for ESCC in African and Asian populations. Our GWAS of ESCC conducted in a population of African ancestry indicates a substantial genetic contribution to ESCC risk in Africa., Competing Interests: Declaration of interests The authors declare no competing interests., (Copyright © 2023 American Society of Human Genetics. All rights reserved.)

Introduction: Measures used to assess equitable relationship dynamics, including the sexual relationship power scale (SRPS) have previously been associated with lower HIV-risk among young women, and reduced perpetration of intimate partner violence among men. However, few studies describe how the SRPS has been adapted and validated for use within global youth sexual health studies. We examined gender-specific psychometric properties, reliability, and validity of a SRPS used within a South African youth-engaged cohort study. Methods: Young men and women (16–24 years) enrolled in community-based cohorts in Durban and Soweto (2014–2016) reporting a primary partner at 6-month follow-up completed a 13-item (strongly agree/agree/disagree/strongly disagree) South African adaptation of Pulerwitz’s SRPS (range 13–52, higher scores indicating greater sexual relationship power [SRP] equity). SRPS modifications were made using gender-specific exploratory factor analyses (EFAs), removing items with factor loadings <0.3. Cronbach alphas were conducted for full and modified scales by gender. Using modified scales, unadjusted and adjusted regression models examined associations between 1. relevant socio-demographic and relationship determinants and SRP equity, and 2. SRP equity and sexual relationship related outcomes. All models adjusted for education, age, site, and current employment. Results: 235 sexually-active youth (66% women, median age = 20) were included. Mean scores across all 13 scale items were 2.71 (SD 0.30) for women and 2.70 (SD 0.4) for men. Scale Cronbach’s alphas were 0.63 for women and 0.64 for men. EFAs resulted in two gender-specific single-factor SRPS. Modified SRPS Cronbach alphas increased to 0.67 for women (8-items) and 0.70 for men (9-items). After adjusting for age, site and current employment, higher education remained associated with SRP equity across genders. In adjusted models, correlates of SRP equity included primary partnerships that were age-similar (<5 years older) and <2 years in length for women and living in Soweto and younger age for men. Greater SRP equity among women was also independently associated with no recent partner violence. Conclusions: Results highlight important gender differences in SRP equity measures and associations, highlighting the critically need for future research to examine gendered constructions of SRP equity in order to accurately develop, validate and use appropriate measures within quantitative surveys. [ABSTRACT FROM AUTHOR]

Background: Primaquine is recommended by the World Health Organization (WHO) for radical treatment of Plasmodium vivax malaria. This drug is known to provoke acute hemolytic anemia in individuals with glucose-6-phosphate dehydrogenase (G6PD) deficiency. Due to lack of data on G6PD deficiency, the use of primaquine has been limited in Africa. In the present study, G6PD deficiency was investigated in blood donors of various ethnic groups living in Nouakchott, a P. vivax endemic area in Mauritania. Methodology/Principal findings: Venous blood samples from 443 healthy blood donors recruited at the National Transfusion Center in Nouakchott were screened for G6PD activity using the CareStart G6PD deficiency rapid diagnostic test. G6PD allelic variants were investigated using DiaPlexC G6PD genotyping kit that detects African (A-) and Mediterranean (B-) variants. Overall, 50 of 443 (11.3%) individuals (49 [11.8%] men and 1 [3.7%] woman) were phenotypically deficient. Amongst men, Black Africans had the highest prevalence of G6PD deficiency (15 of 100 [15%]) and White Moors the lowest (10 of 168, [5.9%]). The most commonly observed G6PD allelic variants among 44 tested G6PD-deficient men were the African variant A- (202A/376G) in 14 (31.8%), the Mediterranean variant B- (563T) in 13 (29.5%), and the Betica-Selma A- (376G/968C) allelic variant in 6 (13.6%). The Santamaria A- variant (376G/542T) and A variant (376G) were observed in only one and two individuals, respectively. None of the expected variants was observed in 8 (18.2%) of the tested phenotypically G6PD-deficient men. Conclusion: This is the first published data on G6PD deficiency in Mauritanians. The prevalence of phenotypic G6PD deficiency was relatively high (11.3%). It was mostly associated with either African or Mediterranean variants, in agreement with diverse Arab and Black African origins of the Mauritanian population. [ABSTRACT FROM AUTHOR]

Purpose: To investigate the distribution of corneal spherical aberration (SA) in Tanzanian people of African descent, and to examine the correlation between corneal SA and ocular parameters. Design: Cross-sectional population-based study. Methods: Residents aged 40 years and older in three villages in the Mkuranga district in Tanzania were enlisted as study participants. Corneal higher-order aberrations (HOAs) for the right eye were measured with a wavefront analyzer (KR-1W, Topcon) and calculated for the central 6.0-mm zone. Corneal curvature radius (CR), corneal astigmatism, and axial length (AL) were also measured and their correlation with corneal SA was assessed. Results: The right eyes of 657 participants (336 male, 321 female) were analyzed. The mean age of the subjects was 57.2 ± 10.3 years (mean ± SD). The mean corneal SA (Zernike spherical aberration coefficient C40) was 0.188 ± 0.095 μm (-0.242 to 0.613). The SAs in about three-quarters of all subjects were between 0.10 and 0.30 μm. The root mean squares of total corneal HOAs and the third- and fourth-order aberrations were 0.629 ± 0.250 μm, 0.539 ± 0.236 μm, and 0.269 ± 0.110 μm, respectively. Corneal SA showed weak significant correlations with CR (Spearman’s rank correlation coefficient, r = -0.177, p < 0.001), corneal astigmatism (r = -0.142, p < 0.001), AL (r = -0.168, p < 0.001), and age (r = -0.085, p < 0.05). Conclusions: This finding may be beneficial for selecting aspheric intraocular lens in this population. [ABSTRACT FROM AUTHOR]

While diaspora communities have become more critical of Female Genital Cutting (FGC), there are also trends of continuity. To explore the interplay between continuity and change, I designed a study among Somali migrants in Norway. A team of six Somali research assistants collected data from 72 male and female research participants between 16 and 57 years of age through in-depth interviews and focus group discussions. The aim of the study was to gather knowledge that could improve interventions among migrant populations. The study findings indicate that the experience of FGC as a practice in transition implies that people have to maneuver between different and partly contradictory social norms. The paper first discusses the contradiction between a strong negative attitude toward FGC and very low engagement. The lack of engagement is explained by the increased privatization of FGC and insecurities due to the transition and disempowerment with regard to challenging the FGC practices of relatives based in countries of origin. Second, the paper explores the contradiction between perceptions of FGC as a disappearing practice and the recognition of trends of continuation. Trends of continuation include those related to perceptions of risk during travel to countries of origin, resistance to defibulation, support for sunna circumcision and insecurities regarding the significance of FGC for marriageability. Thus, despite an almost universally negative attitude toward FGC in the form of infibulation, ongoing changes can, to some extent, hamper further change. This suggests that to ensure further progress in the abandonment of the practice, these complex and interconnected expectations must be addressed. [ABSTRACT FROM AUTHOR]

Background: Increasingly studies show that immigrants have different perinatal health outcomes compared to native-born women. Nevertheless, we lack a detailed examination of the combined effects of maternal immigrant trajectory and socioeconomic status on perinatal outcomes. Our objective was to analyze the influence of time since naturalization on low birth weight and maternal socioeconomic status in Belgium. Methods: The data came from the linkage between the Brussels birth and death registers, the national register of migrant trajectories and the social security register for the years 2004–2010. We used logistic regression to estimate the odds ratios of the associations between low birth weight (LBW) and time since naturalization, by nationality groups, taking into account socioeconomic status (SES), parity and maternal age. Results: Data relate to all singleton births to Belgian, Maghrebi, Sub-Saharan African and Turkish women (n = 76 312). The results show an U-shaped of LBW according to time since naturalization for all migrant groups. LBW declines for women naturalized since less than one year and increases significantly thereafter (p<0.0001). In parallel, we observe an increase of SES among all migrant groups. Compared to Belgians, we found a lower risk of LBW among women from Maghreb (p<0.0001) and this protection is maintained even after 10 years since naturalization. In contrast, the risk of LBW for Sub-Saharan African and Turkish mothers is lower than for Belgians after one year of naturalization but similar to that of Belgians after 10 years of naturalization. Conclusion: Our results show that, despite an improvement of their SES, LBW increases among Maghrebi, Sub-Saharan African and Turkish women with time since naturalization. Mothers from Maghreb have lower rates of LBW compared to Belgians and maintain their protection even after more than 10 years of having acquired the Belgian nationality. Additional studies need to be carried out in order to gain a better understanding of the association between migration trajectories, SES and perinatal health of immigrants. [ABSTRACT FROM AUTHOR]

Introduction: Unmet need for contraception is defined as the proportion of fertile individuals who do not use contraceptives despite wanting to space or limit their childbearing. Studies show that immigrant women in Europe, have higher rates of unintended pregnancies and abortion than native born women. Somali women, have the highest fertility rate in Norway which is much higher than the total fertility rate in Norway (4.0 vs. 1.7). This study investigates the unmet need for contraception among Somali immigrant women in Oslo, Norway, compared to their original population in Mogadishu, Somalia. Methods: A community based, cross sectional study was carried out among Somali women in Oslo (N = 228) and Mogadishu (N = 229) from May to December 2018. Pre-structured questionnaires were given to women who were recruited through snow-ball sampling. Data was analyzed using SPSS version 25. We performed a chi-square test for the analyses of categorical variables, a t-test for continuous variables and multivariate logistic analysis to determine the association between exposure and outcome variable. Results: The unmet needs for contraception among Somali women in Oslo was 20.2%, which is similar to unmet needs for contraception of women in many sub-Saharan African countries. The unmet needs for Somali immigrant women in Oslo (20.2) is two times lower than that of their original population in Somalia (48.5). The odds of having unmet needs for contraception was nearly, three times higher among Somali women in Mogadishu compared to those in Oslo (OR: 2.6, CI: 2.56–7.68). The mean intended fertility was 4 among the women in Oslo and 10.8 in Mogadishu. About 13.4% of study participants in Oslo and 86.6% of those in Mogadishu consider modern contraception irrelevant for women’s health. Nearly 50% of women in both places had unintended childbirth on one or more occasion. Conclusion: The study results show the prevalence of unmet needs for contraception among Somali immigrant women Oslo, is 4 fold higher than that of Norway (20.2 vs 5.5). Information Education Communication to both men and women, may reduce the high unmet need for contraception and also improve partner communication on family planning among Somali immigrants in Oslo. Training primary health providers for provision of tailored information about the modern contraception to immigrant women, which includes an individualized counselling may improve partners’ knowledge, demand and uptake of modern contraception. [ABSTRACT FROM AUTHOR]

Background: Tuberculosis (TB) remains a major health problem worldwide and in Ethiopia. This study aimed to investigate the spatial distributions of notified TB over the whole territory of Ethiopia and to quantify the role of health care access, environmental, socio-demographic, and behavioural factors associated with the clustering of TB. Methods: A spatial analysis was conducted using national TB data reported between June 2016 and June 2017 in Ethiopia. Spatial clustering of TB was explored using Moran’s I statistic and the local indicator of spatial autocorrelation (LISA). A multivariate Poisson regression model was developed with a conditional autoregressive (CAR) prior structure and with posterior parameters estimated using Bayesian Markov chain Monte Carlo (MCMC) simulation with Gibbs sampling to investigate the drivers of the clustering. Result: A total of 120,149 TB cases were reported from 745 districts in Ethiopia during the study period; 41,343 (34%) were bacteriologically confirmed new pulmonary TB and 33,997 (28%) were clinically diagnosed, new, smear-negative pulmonary TB patients. The nationwide annual incidence rate of notified TB was 112 per 100,000 population. The highest incidence was observed in three city administrative regions, namely Dire Dewa (348 cases per 100,000 population), Addis Ababa (262 per 100,000 population) and Harari (206 per 100,000 population), and the lowest incidence was observed in Somali region (51 per 100,000 population). High-high spatial clustering of notified TB was detected at Humera, Gog, and Surima district, and low-low clustering was detected in some districts located in the Somali region. Poor health care access (IRR = 0.78; 95%CI: 0.66, 0.90) and good knowledge about TB (IRR = 0.84; 95%CI: 0.73, 0.96) were negatively associated with the incidence of notified TB. Conclusion: Substantial spatial clustering of notified TB was detected at region, zone and district level in Ethiopia. Health care access and knowledge about TB was associated with incidence of TB. This study may provide policy makers target hotspot areas, where national control programs could be implemented more efficiently for the prevention and control of TB, and to address potential under-reporting in poor access areas. [ABSTRACT FROM AUTHOR]

Spinal Muscular Atrophy (SMA) is a disorder characterized by the degeneration of motor neurons in the spinal cord, leading to muscular atrophy. In the majority of cases, SMA is caused by the homozygous absence of the SMN1 gene. The disease severity of SMA is strongly influenced by the copy number of the closely related SMN2 gene. In addition, an SMN variant lacking exons 7 and 8 has been reported in 8% and 23% of healthy Swedish and Spanish individuals respectively. We tested 1255 samples from the 1000 Genomes Project using a new version of the multiplex ligation-dependent probe amplification (MLPA) P021 probemix that covers each SMN exon. The SMN variant lacking exons 7 and 8 was present in up to 20% of individuals in several Caucasian populations, while being almost completely absent in various Asian and African populations. This SMN1/2Δ7–8 variant appears to be derived from an ancient deletion event as the deletion size is identical in 99% of samples tested. The average total copy number of SMN1, SMN2 and the SMN1/2Δ7–8 variant combined was remarkably comparable in all populations tested, ranging from 3.64 in Asian to 3.75 in African samples. [ABSTRACT FROM AUTHOR]

Background: The gap between fertility outcomes and fertility ideals is notably higher in sub-Saharan Africa (SSA) than elsewhere, relating to both under- and overachievement of fertility ideals. We consider the extent to which the relationship between fertility ideals and fertility outcomes is related to educational achievement. Further, we consider if these educational differentials are the same or different in SSA, and thereby consider the extent to which increasing levels of education in SSA may decrease fertility. Data and methods: We use 227 Demographic and Health Surveys (DHSs) from 58 countries worldwide to look at population- level measures of the mismatch between fertility ideals and fertility outcomes. Population level measures are used to assess whether the correspondence between fertility intentions and achievements differ by level of education. We then look at the individual-level determinants of both under- and overachieving fertility intentions. Data from the most recent DHS in 54 of the original countries is used for the individual level analysis, with five countries excluded due to the most recent available survey being out of date. Results: An average of 40% of women in SSA underachieve their stated fertility intentions compared to 26% in non-SSA countries. Furthermore, compared to other LMICs, higher levels of education are not related to better correspondence between fertility intentions and outcomes in SSA. In Middle/Western Africa countries, on average, 48% of women with secondary or higher education have fewer children than their ideal, compared to just 24% who have more children than their ideal. Conclusion: We argue that the phenomenon of underachieving fertility ideals (or unrealized fertility) may be of particular importance for the ongoing fertility transition throughout SSA, especially as more highly educated groups do not appear to be following the patterns observed elsewhere. [ABSTRACT FROM AUTHOR]

Lymphatic filariasis (LF) elimination as a public health problem requires the interruption of transmission by administration of preventive mass drug administration (MDA) to the eligible population living in endemic districts. Suboptimal MDA coverage leads to persistent parasite transmission with consequential infection, disease and disability, and the need for continuing MDA rounds, requiring considerable investment. Routine coverage reports must be verified in each MDA implementation unit (IU) due to incorrect denominators and numerators used to calculate coverage estimates with administrative data. IU are usually the health districts. Coverage is verified so IU teams can evaluate their outreach and take appropriate action to improve performance. Mozambique and the Democratic Republic of Congo (DRC) have conducted MDA campaigns for LF since 2009 and 2014, respectively. To verify district reports and assess the declared achievement using administrative data of the minimum 80% coverage of eligible people (or 65% of the total population), both countries conducted rapid probability surveys using Lot Quality Assurance Sampling (LQAS)(n = 1102) in 2015 and 2016 in 58 IU in 49 districts. The surveys identified IU with suboptimal coverage, reasons for not residents did not take the medication, place where the medication was received, information sources, and knowledge about diseases prevented by the MDA. LQAS identified four inadequately covered IU triggering district team performance reviews with provincial and national teams and district retreatment. Provincial estimates using probability samples (weighted by populations sizes) were 10 and 17 percentage points lower than reported coverage in DRC and Mozambique. The surveys identified: absence from home during annual MDA rounds as the main reason for low performance and provided valuable information about pre-campaign and campaign activities resulting in improved strategies and continued progress towards elimination of LF and co-endemic Neglected Tropical Diseases. [ABSTRACT FROM AUTHOR]

Background: The electrocardiographically quantified QRS duration measures ventricular depolarization and conduction. QRS prolongation has been associated with poor heart failure prognosis and cardiovascular mortality, including sudden death. While previous genome-wide association studies (GWAS) have identified 32 QRS SNPs across 26 loci among European, African, and Asian-descent populations, the genetics of QRS among Hispanics/Latinos has not been previously explored. Methods: We performed a GWAS of QRS duration among Hispanic/Latino ancestry populations (n = 15,124) from four studies using 1000 Genomes imputed genotype data (adjusted for age, sex, global ancestry, clinical and study-specific covariates). Study-specific results were combined using fixed-effects, inverse variance-weighted meta-analysis. Results: We identified six loci associated with QRS (P<5x10-8), including two novel loci: MYOCD, a nuclear protein expressed in the heart, and SYT1, an integral membrane protein. The top SNP in the MYOCD locus, intronic SNP rs16946539, was found in Hispanics/Latinos with a minor allele frequency (MAF) of 0.04, but is monomorphic in European and African descent populations. The most significant QRS duration association was with intronic SNP rs3922344 (P = 1.19x10-24) in SCN5A/SCN10A. Three other previously identified loci, CDKN1A, VTI1A, and HAND1, also exceeded the GWAS significance threshold among Hispanics/Latinos. A total of 27 of 32 previously identified QRS duration SNPs were shown to generalize in Hispanics/Latinos. Conclusions: Our QRS duration GWAS, the first in Hispanic/Latino populations, identified two new loci, underscoring the utility of extending large scale genomic studies to currently under-examined populations. [ABSTRACT FROM AUTHOR]

Background: Facial anthropometric data are scarce in African children. However, such data may be useful for the design of medical devices for high disease burden settings. The aim of this study was to obtain 3D facial anthropometric data of Congolese children aged 0–5 years. Methods & findings: The faces of 287 Congolese children were successfully scanned using a portable structured-light based 3D video camera, suitable for field work in low- income settings. The images were analyzed using facial analysis algorithms. Normal growth curves were generated for the following facial dimensions: distance between nares and distance from subnasion to upper lip. At birth, 1 year, and 5 years of age the median dimensions were: 13·92, 14·66, and 17.60 mm, respectively for distance between nares, and 10·16, 10.88, and 13·79 mm, respectively for distance from subnasion to upper lip. Modeled facial contours conveniently clustered into three average sizes which could be used as templates for the design of medical instruments. Conclusion: Capturing of 3D images of infants and young children in LMICs is feasible using portable cameras and computerized analysis. This method and these specific data on Congolese pediatric facial dimensions may assist in the design of appropriately sized medical devices (thermometers, face masks, pulse oximeters, etc.) for this population. [ABSTRACT FROM AUTHOR]

Ethnic-racial classification criteria are widely recognized to vary according to historical, cultural and political contexts. In Brazil, the strong influence of individual socio-economic factors on race/colour self-classification is well known. With the expansion of genomic technologies, the use of genomic ancestry has been suggested as a substitute for classification procedures such as self-declaring race, as if they represented the same concept. We investigated the association between genomic ancestry, the racial composition of census tracts and individual socioeconomic factors and self-declared race/colour in a cohort of 15,105 Brazilians. Results show that the probability of self-declaring as black or brown increases according to the proportion of African ancestry and varies widely among cities. In Porto Alegre, where most of the population is white, with every 10% increase in the proportion of African ancestry, the odds of self-declaring as black increased 14 times (95%CI 6.08–32.81). In Salvador, where most of the population is black or brown, that increase was of 3.98 times (95%CI 2.96–5.35). The racial composition of the area of residence was also associated with the probability of self-declaring as black or brown. Every 10% increase in the proportion of black and brown inhabitants in the residential census tract increased the odds of self-declaring as black by 1.33 times (95%CI 1.24–1.42). Ancestry alone does not explain self-declared race/colour. An emphasis on multiple situational contexts (both individual and collective) provides a more comprehensive framework for the study of the predictors of self-declared race/colour, a highly relevant construct in many different scenarios, such as public policy, sociology and medicine. [ABSTRACT FROM AUTHOR]

We examine the relationship between school attendance and HIV incidence among young women in South Africa. Our aim is to distinguish a causal effect from correlation. Towards this end, we apply three methods to population-based longitudinal data for 2005–2012 in KwaZulu-Natal. After establishing a negative association, we first use a method that assesses the influence of omitted variables. We then estimate models with exclusion restrictions to remove endogeneity bias, and finally we estimate models that control for unobserved factors that remain constant over time. All the three methods have strengths and weaknesses, but none of them suggests a causal effect. Thus, interventions that increase school attendance in KwaZulu-Natal would probably not mechanically reduce HIV risk for young women. Although the impact of school attendance could vary depending on context, unobserved variables are likely to be an important reason for the common finding of a negative association between school attendance and HIV incidence in the literature. [ABSTRACT FROM AUTHOR]

Introduction: As a result of global migration, health professionals in destination countries are increasingly being called upon to provide care for women and girls who have experienced female genital mutilation/cutting (FGM/C). There is considerable evidence to suggest that their care experiences are sub-optimal. This systematic review sought to illuminate possible reasons for this by exploring the views, experiences, barriers and facilitators to providing FGM-related healthcare in high income countries, from health professionals’ perspectives. Methods: Sixteen electronic databases/resources were searched from inception to December 2017, supplemented by reference list searching and suggestions from experts. Inclusion criteria were: qualitative studies (including grey literature) of any design, any cadre of health worker, from OECD countries, of any date and any language. Two reviewers undertook screening, selection, quality appraisal and data extraction using tools from the Joanna Briggs Institute (JBI). Synthesis involved an inductive thematic approach to identify descriptive themes and interpret these into higher order analytical constructs. Confidence in the review findings was assessed using GRADE-CERQual. The review protocol was registered with PROSPERO (CRD420150300042015). Results: Thirty papers (representing 28 distinct studies) from nine different countries were included. The majority of studies focused on maternity contexts. No studies specifically examined health professionals’ role in FGM/C prevention/safeguarding. There were 20 descriptive themes summarised into six analytical themes that highlighted factors perceived to influence care: knowledge and training, communication, cultural (mis)understandings, identification of FGM/C, clinical management practices and service configuration. Together, these inter-linked themes illuminate the ways in which confidence, communication and competence at provider level and the existence and enactment of pathways, protocols and specialist support at service/system level facilitate or hinder care. Conclusions: FGM/C is a complex and culturally shaped phenomenon. In order to work effectively across cultural divides, there is a need for provider training, clear guidelines, care pathways and specialist FGM/C centres to support mainstream services. [ABSTRACT FROM AUTHOR]

Introduction: Women’s ability to make decisions regarding their reproductive health has important implications for their health and well-being. We studied the socio-demographic factors affecting reproductive health decision-making among women in 27 sub-Sahara African countries. Materials and methods: The study made use of pooled data from current Demographic and Health Survey (DHS) conducted from January 1, 2010 and December 31, 2016 in 27 countries in sub-Sahara African. Binary and multivariate logistic regression models were used to investigate the associations of women’s socio-demographic factors with decision-making regarding sexual reproductive health. Results: The proportion of women who can ask their partners to use a condom during sexual intercourse ranged from lowest in Mali (16.6%) to highest in Namibia (93.4%). Furthermore, the proportion of women who can refuse sex ranged from 18.3% in Mali to 92.4% in Namibia. Overall, approximately every five out of ten women can ask their partners to use a condom, six out ten women could refuse their partners sex and seven out of ten women could make at least 1 decision. Women from rural areas (OR = 0.51, CI = 0.48–0.54), those with no education (OR = 0.11, CI = 0.10–0.12), Muslim women (OR = 0.29, CI = 0.27–0.31), women not working (OR = 0.53, CI = 0.51–0.56) and women whose partners had no education (OR = 0.17, CI = 0.16–0.19) were less likely to make a decision on their reproductive health. Conclusion: Residence, age, level of education, religion, occupation and partner’s education were found to be associated with women’s decision-making about sexual intercourse, condom use and reproductive health decision-making index. This study contributes to the discourse on reproductive health decision-making in Africa. Policies and intervention targeted at improving women’s autonomy and empowering them to take charge of their sexual and reproductive health issues should be focused on these factors. [ABSTRACT FROM AUTHOR]

Background: A high quality modern diet is associated with reduced risk of metabolic disease and diabetes. However, it remains unclear whether the quality of predominantly traditional ethnic diets is associated with such conditions. Moreover, the relationship between dietary quality and microbiota, a potential mediator of metabolic disease, has not been studied. Objective: We investigated the relationship of dietary quality of traditional ethnic diets in Indonesia with fasting blood glucose (FBG), HbA1c, and the number of fecal Bifidobacterium. Design: A cross-sectional study was conducted in selected districts with predominantly animal- or plant-based traditional diets of West Sumatera and West Java provinces, respectively. A total of 240 apparently healthy women aged 19–50 years were randomly selected from 360 women screened by a cluster sampling design. Dietary quality was assessed by 2-day repeated 24-hour food recall, and scored using the Healthy Eating Index (HEI) 2010. FBG was quantified with the enzymatic colorimetric method, and HbA1c by using hexokinase and high-performance liquid chromatography, and total fecal Bifidobacterium by real-time quantitative polymerase chain reaction. Results: The HEI scores of 99% of women were <51, indicating a low-quality diet. In adjusted multivariate regression, HEI was inversely associated with FBG (ß = -0.403; 95% CI = -0.789 to -0.016; p = 0.041) and HbA1c (ß = -0.018; 95% CI = -0.036 to 0.000; p = 0.048) but was not significantly associated with total levels of Bifidobacterium (ß = -0.007, p = 0.275). Bifidobacterium count was not significantly associated with either FBG or HbA1c levels. Conclusion: Low dietary quality is clearly associated with risk of increased markers of blood glucose. However, any mediating role of Bifidobacterium between dietary quality and glucose outcomes was not apparent. Innovative interventions for healthy eating should be implemented to increase dietary quality of populations transitioning from predominantly traditional to modern diets, to reduce the risk of diabetes, especially in women. [ABSTRACT FROM AUTHOR]

It is well-established that experiences of discrimination influence immigrants’ acculturation. Yet, whereas a large body of research has demonstrated the role of discrimination by members of the dominant societal group, surprisingly little is known about how being discriminated by members of one’s own group relates to the way immigrants acculturate. With a sample of 162 African first- and second-generation immigrants living in Norway, the present research investigated the relationship between both types of discrimination, acculturation and psychological well-being. It did so, focusing on discrimination based on one’s skin tone, a type of discrimination Africans can experience from White as well as African individuals. Results showed that skin-tone discrimination by Whites was associated with a lower host culture orientation. By contrast, skin-tone discrimination by Africans was associated with a lower heritage culture orientation. Mediation analyses showed that the positive relationship of skin-tone discrimination by Whites and Africans with life satisfaction was mediated by a lower host and heritage culture orientation respectively. This indirect relationship did not reach significance with self-esteem as dependent variable. Participants’ actual skin tone was unrelated to experiences of skin-tone discrimination. We discuss our results in light of previous research and highlight potential limitations. [ABSTRACT FROM AUTHOR]

Objective: Ancestral M. tuberculosis complex lineages such as M. africanum are underrepresented among retreatment patients and those with drug resistance. To test the hypothesis that they respond faster to TB treatment, we determined the rate of smear conversion of new pulmonary tuberculosis patients in Bamako, Mali by the main MTBc lineages. Methods: Between 2015 and 2017, we conducted a prospective cohort study of new smear positive pulmonary tuberculosis patients in Bamako. Confirmed MTBc isolates underwent genotyping by spoligotyping for lineage classification. Patients were followed at 1 month (M), 2M and 5M to measure smear conversion in auramine (AR) and Fluorescein DiAcetate (FDA) vital stain microscopy. Result: All the first six human MTBc lineages were represented in the population, plus M. bovis in 0.8% of the patients. The most widely represented lineage was the modern Euro-American lineage (L) 4, 57%, predominantly the T family, followed by L6 (M. africanum type 2) in 22.9%. Ancestral lineages 1, 5, 6 and M. bovis combined amounted to 28.8%. Excluding 25 patients with rifampicin resistance, smear conversion, both by AR and FDA, occurred later in L6 compared to L4 (HR 0.80 (95% CI 0.66–0.97) for AR, and HR 0.81 (95%CI 0.68–0.97) for FDA). In addition we found that HIV negative status, higher BMI at day 0, and patients with smear grade at baseline ≤ 1+ were associated with earlier smear conversion. Conclusion: The six major human lineages of the MTBc all circulate in Bamako. Counter to our hypothesis, we found that patients diseased with modern M. tuberculosis complex L4 respond faster to TB treatment than those with M. africanum L6. [ABSTRACT FROM AUTHOR]

The ApoE ε4 allele is the most significant genetic risk factor for late-onset Alzheimer disease. The risk conferred by ε4, however, differs across populations, with populations of African ancestry showing lower ε4 risk compared to those of European or Asian ancestry. The cause of this heterogeneity in risk effect is currently unknown; it may be due to environmental or cultural factors correlated with ancestry, or it may be due to genetic variation local to the ApoE region that differs among populations. Exploring these hypotheses may lead to novel, population-specific therapeutics and risk predictions. To test these hypotheses, we analyzed ApoE genotypes and genome-wide array data in individuals from African American and Puerto Rican populations. A total of 1,766 African American and 220 Puerto Rican individuals with late-onset Alzheimer disease, and 3,730 African American and 169 Puerto Rican cognitively healthy individuals (> 65 years) participated in the study. We first assessed average ancestry across the genome (“global” ancestry) and then tested it for interaction with ApoE genotypes. Next, we assessed the ancestral background of ApoE alleles (“local” ancestry) and tested if ancestry local to ApoE influenced Alzheimer disease risk while controlling for global ancestry. Measures of global ancestry showed no interaction with ApoE risk (Puerto Rican: p-value = 0.49; African American: p-value = 0.65). Conversely, ancestry local to the ApoE region showed an interaction with the ApoE ε4 allele in both populations (Puerto Rican: p-value = 0.019; African American: p-value = 0.005). ApoE ε4 alleles on an African background conferred a lower risk than those with a European ancestral background, regardless of population (Puerto Rican: OR = 1.26 on African background, OR = 4.49 on European; African American: OR = 2.34 on African background, OR = 3.05 on European background). Factors contributing to the lower risk effect in the ApoE gene ε4 allele are likely due to ancestry-specific genetic factors near ApoE rather than non-genetic ethnic, cultural, and environmental factors. [ABSTRACT FROM AUTHOR]

To date the LRRK2 p.G2019S mutation remains the most common genetic cause of Parkinson disease (PD) worldwide. It accounts for up to 6% of familial and approximately 1.5% of sporadic cases. LRRK2 has a kinase enzymatic domain which provides an attractive potential target for drug therapies and LRRK2 kinase inhibitors are in development. Prevalence of the p.G2019S has a variable ethnic and geographic distribution, the highest reported among Ashkenazi Jews (30% in patients with familial PD, 14% in sporadic PD, 2.0% in controls) and North African Berbers (37% in patients with familial PD, 41% in sporadic PD, and 1% in controls). Little is known about the frequency of the LRRK2 p.G2019S among populations in sub-Saharan Africa. Our group and others previously reported that the p.G2019S is absent in a small cohort of Nigerian PD patients and controls. Here we used Kompetitive Allele Specific PCR (KASP) assay to screen for the p.G2019S in a larger cohort of Black African PD patients (n = 126) and healthy controls (n = 54) from Nigeria. Our analysis confirmed that all patients and controls are negative for the p.G2019S mutation. This report provides further evidence that the LRRK2 p.G2019S is not implicated in PD in black populations from Nigeria and support the notion that p.G2019S mutation originated after the early human dispersal from sub-Saharan Africa. Further studies using larger cohorts and advance sequencing technology are required to underpin the genetic causes of PD in this region. [ABSTRACT FROM AUTHOR]

Background: HIV self-testing (HIVST) addresses barriers to HIV diagnosis among men, but current approaches to distributing HIVST kits only reach a subset of the men requiring testing. Methods: We conducted a pilot trial of the secondary distribution of HIVST kits through peer networks in fishing communities of Buliisa district (Uganda). We recruited distributors (“seeds”) among male patients of a health facility, and among community members. Seeds were trained in HIVST and asked to distribute up to five kits to their peers (“recruits”). Recruits were referred to the study using a coupon, and asked to return the HIVST kit (used or unused). The accuracy of HIVST was measured against a confirmatory test conducted by a health worker. We conducted audio computer assisted self-interviews to measure the occurrence of adverse events, and evaluate the potential yield of peer-delivered HIVST. We also assessed how seeds and recruits rated their experience with peer-distributed HIVST. Results: Nineteen seeds offered an HIVST kit to 116 men, and 95 (81.9%) accepted the offer. No recruit reported coercion, but two seeds experienced hostility from recruits or their family members. The sensitivity of peer-distributed HIVST, as interpreted by recruits, was 100%, and its specificity was 92.8%. Among recruits, 29 had never tested (25.8%), and 42 (44.2%) had tested more than a year ago. Three men living with HIV learned their status through peer-distributed HIVST (yield = 1 new diagnosis per 6.3 seeds). Most recruits (85/88) and seeds (19/19) reported that they would recommend HIVST to their friends and family. All seeds stated that they would accept acting as peer distributors again. Conclusions: This novel peer-based distribution model of HIVST is safe, and has high uptake. It could help reduce the gender gap in HIV testing in under-served fishing communities in Uganda and elsewhere. [ABSTRACT FROM AUTHOR]

The aim of this study was to estimate the age of the Cys433Arg (c.1297T>C, p.Cys433Arg) variant by comparing the genotypes of individuals affected and not affected by primary open angle glaucoma juvenile onset (JOAG). Our sample consisted of 35 JOAG-affected individuals from three families, 16 unrelated patients with the MYOC p.Cys433Arg variant and 16 unaffected individuals. Genomic DNA was amplified by PCR; nine short tandem repeats were genotyped through automated electrophoresis and three single nucleotide polymorphisms through Sanger sequencing. The determination of haplotypes was performed using Arlequin software and age estimation was performed using DMLE+ 2.3 and BDMC21 softwares. Four markers constituted the haplotypes associated with the p.Cys433Arg variant. The software DMLE+2.3 predicted an age of 43 generations for this variant with a 95% confidence interval ranging from 28 to 76 generations (560–1520 years) and BDMC21 predicted an age of 59 generations (1180 years) (95% CI: 40 to 100). [ABSTRACT FROM AUTHOR]

Many of the Somali women who have immigrated to other countries, including Canada, have experienced Female Genital Circumcision/ Mutilation/ Cutting (FGC). While there is literature on the medical aspects of FGC, we were interested in understanding the daily life experiences and bodily sensations of Somali-Canadian women in the context of FGC. Fourteen women living in the Greater Toronto Area were interviewed. Interview data were analyzed using a phenomenological approach. We found that the memory of the ceremonial cutting was vivid but was frequently described with acceptance and resignation–as something that just is; that was normal given the particular context, familial and cultural, and their young age. Most of the women recounted experiencing pain and discomfort throughout their adult lives but were intent on not noticing or giving the pain any power; they considered themselves healthy. The following themes emerged from our interviews: Every Body Had It: Discussing FGC, I’m Normal Aren’t I?, and Feeling in My Body–all themes that work at normalizing their bodies in a society that they know views them as different. They dealt with both pain and pleasure in the context of their busy lives suggesting resilience in spite of the day-to-day difficulties of daily life. [ABSTRACT FROM AUTHOR]