Publications by authors named "Desmond Ikebudu"
Exome Sequencing and Congenital Heart Disease in Sub-Saharan Africa.
Circ Genom Precis Med
February 2021
Article Synopsis
- Congenital heart disease (CHD) is the most common birth defect, affecting about 1% of people globally, but research on CHD genetics has been limited in sub-Saharan Africa, prompting this study in Lagos, Nigeria.
- The study involved 98 Nigerian children with CHD, using exome sequencing to identify genetic variants, revealing that 10% had pathogenic variants, with new de novo variants and gene silencing experiments suggesting significant mortality risks linked to certain genes.
- The findings highlight novel candidate genes for CHD, aiding future research and comparisons with studies in European populations, marking a crucial step in understanding CHD in underserved regions.
Congenital heart disease in school children in Lagos, Nigeria: Prevalence and the diagnostic gap.
Am J Med Genet C Semin Med Genet
March 2020
Congenital heart disease (CHD) in low-and-middle income countries (LMIC) is often characterized by late presentation resulting from inadequate screening and healthcare access in these regions. Accurate estimates of the burden of CHD among school children are often lacking. The objective of this study was to determine the prevalence and distribution of CHD among school children in two communities (urban and semi-urban) in south western Nigeria.
View Article and Find Full Text PDFObjective: Echocardiographic screening for Rheumatic Heart Disease (RHD) in Africa has revealed prevalence rates in the range of 0.5-7.4%.
View Article and Find Full Text PDFBackground: Congenital heart diseases (CHDs) affect ~1% of newborns and are a significant cause of morbidity and mortality in children. We present the clinical epidemiology of CHD as seen in a large university medical center in Nigeria.
Methods: Participants were 767 children with echocardiographically confirmed CHD seen over a 5-year period at the Lagos University Teaching Hospital, Nigeria.
Article Synopsis
- Down syndrome, the most common cause of cognitive impairment, manifests with recognizable signs that vary across ethnic groups, as shown in a study involving 65 individuals from 13 countries, with an average age of 6.6 years.
- Key clinical features, such as brachycephaly and ear anomalies, occurred less frequently in African participants compared to others, highlighting ethnic differences (P-values indicated significant variances).
- Digital facial analysis technology proved highly effective in diagnosing Down syndrome across diverse populations, demonstrating high sensitivity (0.961), specificity (0.924), and accuracy (0.943), while specific facial features varied among ethnicities.