Browsing by Author "Yao, N.A."
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Item Genomics and Epigenomics of Congenital Heart Defects: Expert Review and Lessons Learned in Africa(Mary Ann Liebert Inc, 2018-05) Thomford, N.E.; Dzobo, K.; Yao, N.A.; Chimusa, E.; Evans, J.; Okai, E.; Kruszka, P.; Muenke, M.; Awandare, G.; Wonkam, A.; Dandara, C.Congenital heart defects (CHD) are structural malformations found at birth with a prevalence of 1%. The clinical trajectory of CHD is highly variable and thus in need of robust diagnostics and therapeutics. Major surgical interventions are often required for most CHDs. In Africa, despite advances in life sciences infrastructure and improving education of medical scholars, the limited clinical data suggest that CHD detection and correction are still not at par with the rest of the world. But the toll and genetics of CHDs in Africa has seldom been systematically investigated. We present an expert review on CHD with lessons learned on Africa. We found variable CHD phenotype prevalence in Africa across countries and populations. There are important gaps and paucity in genomic studies of CHD in African populations. Among the available genomic studies, the key findings in Africa were variants in GATA4 (P193H), MTHFR 677TT, and MTHFR 1298CC that were associated with atrial septal defect, ventricular septal defect (VSD), Tetralogy of Fallot (TOF), and patent ductus arteriosus phenotypes and 22q.11 deletion, which is associated with TOF. There were no data on epigenomic association of CHD in Africa, however, other studies have shown an altered expression of miR-421 and miR-1233-3p to be associated with TOF and hypermethylation of CpG islands in the promoter of SCO2 gene also been associated with TOF and VSD in children with non-syndromic CHD. These findings signal the urgent need to develop and implement genetic and genomic research on CHD to identify the hereditary and genome-environment interactions contributing to CHD. These projected studies would also offer comparisons on CHD pathophysiology between African and other populations worldwide. Genomic research on CHD in Africa should be developed in parallel with next generation technology policy research and responsible innovation frameworks that examine the social and political factors that shape the emergence and societal embedding of new technologies. © 2018, Mary Ann Liebert, Inc.Item Management of Hypoplastic Left Heart Syndrome in Low-Resource Settings and the Ethics of Decision-Making(World Journal for Pediatric and Congenital Heart Surgery, 2023) Edwin, F.; Edwin, A.K.; Palacios-Macedo, A.; Mamorare, H.; Yao, N.A.Hypoplastic left heart syndrome (HLHS) is possibly the most challenging congenital heart defect to confront in any setting. The highly specialized infrastructure and resources needed to treat HLHS is not available in many low-resource settings. However, low-resource settings must not be assumed to be synonymous with low- and middle-income countries as national income is not necessarily indicative of a country’s prioritization of healthcare resources. Besides, a low-resource setting may be institution-specific as well as country-specific. We have stratified institutional capabilities for addressing the requirements of treatment for HLHS into five levels based on the capacity for diagnosis, intervention, and post-discharge monitoring. Depending on institutional capabilities, children born with HLHS in low-resource settings experience a spectrum of outcomes ranging from death without diagnosis to the hybrid or Norwood stage 1 palliation. The decision-making is ethically challenging when resources are scarce and economic efficiency must be considered in the context of distributive justice. Even in settings that would be classified as resource-rich where survival after surgery and quality of life afterward keep improving, not every parent would choose surgical intervention for their hypothetical child with HLHS.Item Rubella virus IgM and IgG antibodies with avidity in pregnant women and outcomes at a tertiary facility in Ghana(PLOS ONE, 2022) Sagoe, K.W.; Armah, N.B.; Nuamah, M.; Yawson, A.E.; Essuman, V.A.; Yao, N.A.; et alBackground Congenital rubella syndrome (CRS) is a recognized cause of childhood deafness and blindness caused by the trans placental transmission of rubella virus during pregnancy. Women in the reproductive age group, and by extension their unborn babies may therefore be at increased risk. The prevalence of Rubella virus specific IgM and IgG antibodies, including IgG avidity, was determined in pregnant women attending the antenatal clinic at a Teaching Hospital in Ghana. Methods One hundred and forty-five women in their second and third trimesters of pregnancy from the outpatient clinic were recruited over a period of 2 months after written informed consent was obtained. Study participants completed a questionnaire and venous blood drawn for IgM, IgG, and avidity testing using SERION ELISA (SERION® Immunologics, Wu¨rzburg, Germany). Babies of mothers with positive or indeterminate IgM and low avidity IgG antibodies were offered specialist cardiological, ophthalmological or hearing assessment during follow up. Results One hundred and twenty-eight (88.3%) had only IgG antibodies, 5 (3.4%) had IgM and IgG antibodies, while 12 (8.3%) had no antibodies. No patient had IgM antibodies alone. Ten women (6.9%) had indeterminate levels of IgM antibodies. Majority of the women had high avidity IgG antibodies, while 5 (3.4%) had low avidity antibodies. No patient had IgM withlow avidity antibodies. There was no statistical association between socio-demographic fac tors and the presence of IgM, IgG (low or high avidity) antibodies. Of all the children fol lowed, none had the clinical definition of CRS. Conclusions Consistent with the World Health Organization elimination strategy for measles and rubella viruses, non-immune women in the reproductive age group should be vaccinated. The immunization programme should be expanded to include teenagers and adults. Though Congenital Rubella Syndrome was not detected, the risk still remains