Evidence for integrating eye health into primary health care in Africa: a health systems strengthening approach

BACKGROUND: The impact of unmet eye care needs in sub-Saharan Africa is compounded by barriers to accessing eye care, limited engagement with communities, a shortage of appropriately skilled health personnel, and inadequate support from health systems. The renewed focus on primary health care has led to support for greater integration of eye health into national health systems. The aim of this paper is to demonstrate available evidence of integration of eye health into primary health care in sub-Saharan Africa from a health systems strengthening perspective. METHODS: A scoping review method was used to gather and assess information from published literature, reviews, WHO policy documents and examples of eye and health care interventions in sub-Saharan Africa. Findings were compiled using a health systems strengthening framework. RESULTS: Limited information is available about eye health from a health systems strengthening approach. Particular components of the health systems framework lacking evidence are service delivery, equipment and supplies, financing, leadership and governance. There is some information to support interventions to strengthen human resources at all levels, partnerships and community participation; but little evidence showing their successful application to improve quality of care and access to comprehensive eye health services at the primary health level, and referral to other levels for specialist eye care. CONCLUSION: Evidence of integration of eye health into primary health care is currently weak, particularly when applying a health systems framework. A realignment of eye health in the primary health care agenda will require context specific planning and a holistic approach, with careful attention to each of the health system components and to the public health system as a whole. Documentation and evaluation of existing projects are required, as are pilot projects of systematic approaches to interventions and application of best practices. Multi-national research may provide guidance about how to scale up eye health interventions that are integrated into primary health systems

Association between micronutrients, oxidative stress biomarkers and angiogenic growth mediators in early and late-onset preeclamptic Ghanaian women

Objectives: Micronutrients, especially calcium (Ca) and magnesium (Mg) are reported to reduce preeclampsia events via several factors such as endothelial cell control, optimal oxidative stress and a balanced angiogenic growth mediator. We evaluated the association of micronutrients with oxidative stress biomarkers, and angiogenic growth mediators in early-onset preeclampsia and late-onset preeclampsia. Methods: This case-control study recruited 197 preeclampsia (early-onset preeclampsia = 70 and late-onset preeclampsia = 127) as cases and 301 normotensive pregnant women as controls from the Komfo Anokye Teaching Hospital, Ghana. Samples were collected after 20 weeks of gestation for both cases and controls and estimated for Ca, Mg, soluble fms-like tyrosine kinase-1, placental growth factor, vascular endothelial growth factor-A, soluble endoglin, 8-hydroxydeoxyguanosine, 8-epiprostaglandinF2-alpha and total antioxidant capacity. Results: Early-onset preeclampsia women had significantly lower levels of Ca, Mg, placental growth factor, vascular endothelial growth factor-A and total antioxidant capacity but higher levels of soluble fms-like tyrosine kinase-1, soluble endoglin, 8-epiprostaglandinF2-alpha, 8-hydroxydeoxyguanosine, soluble fms-like tyrosine kinase-1/placental growth factor ratio, 8-epiprostaglandinF2-alpha /placental growth factor ratio, 8-hydroxydeoxyguanosine/placental growth factor ratio and soluble endoglin/placental growth factor ratio than late-onset preeclampsia and normotensive pregnant women (p \u3c 0.0001). Among the early-onset preeclampsia women, the first and second quartile for serum placental growth factor, first quartile for vascular endothelial growth factor-A and total antioxidant capacity and the fourth quartiles for serum sEng, serum sFlt-1, 8-epiPGF2 and 8-OHdG were independently associated with low Ca and Mg (p \u3c 0.05). Among late-onset preeclampsia women, the fourth quartile for soluble fms-like tyrosine kinase-1 was independently associated with low Ca and Mg (p \u3c 0.05). Conclusion: Magnesium and calcium are associated with an imbalance in angiogenic growth mediators and oxidative stress biomarkers among preeclampsia women, particularly early-onset preeclampsia. Serial and routine measurement of these micronutrients would allow the monitoring of poor placental angiogenesis while enabling an understanding of the triggers of increased oxidative stress and reduced antioxidant in preeclampsia

The Human Phenotype Ontology in 2024: phenotypes around the world

\ua9 The Author(s) 2023. Published by Oxford University Press on behalf of Nucleic Acids Research. The Human Phenotype Ontology (HPO) is a widely used resource that comprehensively organizes and defines the phenotypic features of human disease, enabling computational inference and supporting genomic and phenotypic analyses through semantic similarity and machine learning algorithms. The HPO has widespread applications in clinical diagnostics and translational research, including genomic diagnostics, gene-disease discovery, and cohort analytics. In recent years, groups around the world have developed translations of the HPO from English to other languages, and the HPO browser has been internationalized, allowing users to view HPO term labels and in many cases synonyms and definitions in ten languages in addition to English. Since our last report, a total of 2239 new HPO terms and 49235 new HPO annotations were developed, many in collaboration with external groups in the fields of psychiatry, arthrogryposis, immunology and cardiology. The Medical Action Ontology (MAxO) is a new effort to model treatments and other measures taken for clinical management. Finally, the HPO consortium is contributing to efforts to integrate the HPO and the GA4GH Phenopacket Schema into electronic health records (EHRs) with the goal of more standardized and computable integration of rare disease data in EHRs

Grand Challenges in global eye health: a global prioritisation process using Delphi method

Background: We undertook a Grand Challenges in Global Eye Health prioritisation exercise to identify the key issues that must be addressed to improve eye health in the context of an ageing population, to eliminate persistent inequities in health-care access, and to mitigate widespread resource limitations. Methods: Drawing on methods used in previous Grand Challenges studies, we used a multi-step recruitment strategy to assemble a diverse panel of individuals from a range of disciplines relevant to global eye health from all regions globally to participate in a three-round, online, Delphi-like, prioritisation process to nominate and rank challenges in global eye health. Through this process, we developed both global and regional priority lists. Findings: Between Sept 1 and Dec 12, 2019, 470 individuals complete round 1 of the process, of whom 336 completed all three rounds (round 2 between Feb 26 and March 18, 2020, and round 3 between April 2 and April 25, 2020) 156 (46%) of 336 were women, 180 (54%) were men. The proportion of participants who worked in each region ranged from 104 (31%) in sub-Saharan Africa to 21 (6%) in central Europe, eastern Europe, and in central Asia. Of 85 unique challenges identified after round 1, 16 challenges were prioritised at the global level; six focused on detection and treatment of conditions (cataract, refractive error, glaucoma, diabetic retinopathy, services for children and screening for early detection), two focused on addressing shortages in human resource capacity, five on other health service and policy factors (including strengthening policies, integration, health information systems, and budget allocation), and three on improving access to care and promoting equity. Interpretation: This list of Grand Challenges serves as a starting point for immediate action by funders to guide investment in research and innovation in eye health. It challenges researchers, clinicians, and policy makers to build collaborations to address specific challenges. Funding: The Queen Elizabeth Diamond Jubilee Trust, Moorfields Eye Charity, National Institute for Health Research Moorfields Biomedical Research Centre, Wellcome Trust, Sightsavers, The Fred Hollows Foundation, The Seva Foundation, British Council for the Prevention of Blindness, and Christian Blind Mission. Translations: For the French, Spanish, Chinese, Portuguese, Arabic and Persian translations of the abstract see Supplementary Materials section

Cross-ancestry GWAS meta-analysis identifies six breast cancer loci in African and European ancestry women.

Our study describes breast cancer risk loci using a cross-ancestry GWAS approach. We first identify variants that are associated with breast cancer at P < 0.05 from African ancestry GWAS meta-analysis (9241 cases and 10193 controls), then meta-analyze with European ancestry GWAS data (122977 cases and 105974 controls) from the Breast Cancer Association Consortium. The approach identifies four loci for overall breast cancer risk [1p13.3, 5q31.1, 15q24 (two independent signals), and 15q26.3] and two loci for estrogen receptor-negative disease (1q41 and 7q11.23) at genome-wide significance. Four of the index single nucleotide polymorphisms (SNPs) lie within introns of genes (KCNK2, C5orf56, SCAMP2, and SIN3A) and the other index SNPs are located close to GSTM4, AMPD2, CASTOR2, and RP11-168G16.2. Here we present risk loci with consistent direction of associations in African and European descendants. The study suggests that replication across multiple ancestry populations can help improve the understanding of breast cancer genetics and identify causal variants

The Human Phenotype Ontology in 2024: phenotypes around the world.

The Human Phenotype Ontology (HPO) is a widely used resource that comprehensively organizes and defines the phenotypic features of human disease, enabling computational inference and supporting genomic and phenotypic analyses through semantic similarity and machine learning algorithms. The HPO has widespread applications in clinical diagnostics and translational research, including genomic diagnostics, gene-disease discovery, and cohort analytics. In recent years, groups around the world have developed translations of the HPO from English to other languages, and the HPO browser has been internationalized, allowing users to view HPO term labels and in many cases synonyms and definitions in ten languages in addition to English. Since our last report, a total of 2239 new HPO terms and 49235 new HPO annotations were developed, many in collaboration with external groups in the fields of psychiatry, arthrogryposis, immunology and cardiology. The Medical Action Ontology (MAxO) is a new effort to model treatments and other measures taken for clinical management. Finally, the HPO consortium is contributing to efforts to integrate the HPO and the GA4GH Phenopacket Schema into electronic health records (EHRs) with the goal of more standardized and computable integration of rare disease data in EHRs

Evaluating Polygenic Risk Scores for Breast Cancer in Women of African Ancestry

Background: Polygenic risk scores (PRSs) have been demonstrated to identify women of European, Asian, and Latino ancestry at elevated risk of developing breast cancer (BC). We evaluated the performance of existing PRSs trained in European ancestry populations among women of African ancestry. Methods: We assembled genotype data for women of African ancestry, including 9241 case subjects and 10 193 control subjects. We evaluated associations of 179- and 313-variant PRSs with overall and subtype-specific BC risk. PRS discriminatory accuracy was assessed using area under the receiver operating characteristic curve. We also evaluated a recalibrated PRS, replacing the index variant with variants in each region that better captured risk in women of African ancestry and estimated lifetime absolute risk of BC in African Americans by PRS category. Results: For overall BC, the odds ratio per SD of the 313-variant PRS (PRS313) was 1.27 (95% confidence interval [CI] = 1.23 to 1.31), with an area under the receiver operating characteristic curve of 0.571 (95% CI = 0.562 to 0.579). Compared with women with average risk (40th-60th PRS percentile), women in the top decile of PRS313 had a 1.54-fold increased risk (95% CI = 1.38-fold to 1.72-fold). By age 85 years, the absolute risk of overall BC was 19.6% for African American women in the top 1% of PRS313 and 6.7% for those in the lowest 1%. The recalibrated PRS did not improve BC risk prediction. Conclusion: The PRSs stratify BC risk in women of African ancestry, with attenuated performance compared with that reported in European, Asian, and Latina populations. Future work is needed to improve BC risk stratification for women of African ancestry

Cross-ancestry GWAS meta-analysis identifies six breast cancer loci in African and European ancestry women

Our study describes breast cancer risk loci using a cross-ancestry GWAS approach. We first identify variants that are associated with breast cancer at P < 0.05 from African ancestry GWAS meta-analysis (9241 cases and 10193 controls), then meta-analyze with European ancestry GWAS data (122977 cases and 105974 controls) from the Breast Cancer Association Consortium. The approach identifies four loci for overall breast cancer risk [1p13.3, 5q31.1, 15q24 (two independent signals), and 15q26.3] and two loci for estrogen receptor-negative disease (1q41 and 7q11.23) at genome-wide significance. Four of the index single nucleotide polymorphisms (SNPs) lie within introns of genes (KCNK2, C5orf56, SCAMP2, and SIN3A) and the other index SNPs are located close to GSTM4, AMPD2, CASTOR2, and RP11-168G16.2. Here we present risk loci with consistent direction of associations in African and European descendants. The study suggests that replication across multiple ancestry populations can help improve the understanding of breast cancer genetics and identify causal variants