Findings suggest an increase in the number of surgeons, but the training, scope, and standard of care remain relatively limited. Audit and assessment of the practice should also become points of emphasis.
We conducted a genome-wide association study of host resistance to severe Plasmodium falciparum malaria in over 17,000 individuals from 11 malariaendemic countries, undertaking a wide ranging analysis which identifies five replicable associations with genome-wide levels of evidence. Our findings include a newly implicated variant on chromosome 6 associated with risk of cerebral malaria, and the discovery of an erythroid-specific transcription start site underlying the association in ATP2B4. Previously reported HLA associations cannot be replicated in this dataset. We estimate substantial heritability of severe malaria (h 2 ~ 23%), of which around 10% is explained by the currently identified associations. Our dataset will provide a major building block for future research on the genetic determinants of disease in these diverse human populations.a single set of estimated haplotypes for 17,960 individuals at the set of over 1.5M SNPs genome-wide that passed our quality control process (Methods). This dataset includes 6,888 individuals from Mali, Burkina Faso, Ghana, Nigeria, Cameroon, Tanzania, Vietnam and Papua New Guinea that have not previously been included in meta-analysis, as well as previously reported data from The Gambia, Malawi and Kenya 9,10 , and thus reflects the haplotype diversity of a substantial portion of the malaria-endemic world.A reference panel enriched for African DNA improves imputation accuracy across the genome The ethnically diverse nature of our study provides challenges for genomic inference, including for our ability to impute genotypes at potentially relevant untyped loci 11 . To address this, we sequenced the genomes of 773 individuals from ten ethnic groups in east and west Africa (specifically from the Gambia, Burkina Faso, Cameroon and Tanzania), including 207 family trios (Figure 1). We combined genotypes at single nucleotide polymorphisms (SNPs) in these data with Phase 3 of the 1000 Genomes Project to form an imputation reference panel which covers most common genetic variation 12 and in which two-fifths of the donor families are of African ancestry (1,203 of 3,046 individuals). In principle, the additional representation of African DNA in this panel should lead to improvements in imputation accuracy for African study populations, and we found that this was indeed the case, with use of our panel leading to a large increase in accuracy relative to panels used in our previous GWAS 9-11 and a more modest improvement relative to using the 1000 Genomes Phase 3 panel alone (Figure S1). Imputation of Vietnamese individuals, and those from Papua New Guinea (PNG) which is substantially diverged from any reference panel population (Figure 1d), were less affected by the inclusion of these additional haplotypes.We specifically examined imputation of malaria-protective alleles in the HBB gene, which have previously been found difficult to impute 9,11 . The SNP encoding the sickle cell mutation (rs334, chr11:5248232) was imputed with r>0.9 in all African populations, as compared with genotype...
Antimalarial drug failures have been reported anecdotally in Nigeria, and malarial self-treatment practices could be a contributing factor. This study was designed to assess the pattern of drug use practices and self-treatment options among caregivers in Ibadan, Nigeria. We carried out a descriptive cross-sectional study among 283 study participant pairs (children under 5 years of age with suspected malaria and their caregivers). Structured questionnaires were used as research instruments. The results indicated that most caregivers were mothers (88.8%), 69% of caregivers self-prescribed and self-managed malaria for children under 5 years old without immediate hospital visits, and 76.4% of the caregivers believed most recommended and available antimalarial drugs were ineffective. Generally, 44.2% of respondents preferred and used antibiotics as a treatment strategy for malaria, 13.2% used agbo (a locally made liquid extract of plants and roots), 12.5% used prayers, and 19.6% used antimalarial drugs. Overall, only 57.1% of respondents stated that they always complete the standard antimalarial dosage regimen. The choice of malaria self-treatment options was significantly linked to the level of education. The findings identified antibiotics, agbo, and prayers as the immediate choices for self-treating malaria disease in Ibadan. Furthermore, incomplete adherence to antimalarial drugs is a general practice in Ibadan. Malaria self-treatment policy and continuous education on antimalarial drug use tailored to the different literacy and education levels of the general public is hereby recommended to reduce the risk of development of parasite resistance to effective anti-malarial drugs.
Aim: Clefts in the craniofacial region are one of the commonest congenital anomalies recorded in literature. The incidence varies globally with racial differences observed. In Nigeria, the evaluation of the absolute incidence of oral clefts is a challenge as births and deaths are not adequately registered. Especially lacking is the relative prevalence of rare craniofacial clefts to the more common cleft lip and palate anomaly. This study aims to document the pattern of distribution of craniofacial clefts, including cleft lip and palate anomaly, rare craniofacial clefts, unusual presentation of some of these anomalies, as well as other abnormalities noted in affected cleft patients seen at our centre. Material and methods: Information on age, gender, weight at presentation, type of cleft anomaly, other abnormalities, as well as affected relatives were extracted from the clinic records of the Cleft
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