Purpose To determine the prevalence of active convulsive epilepsy, seizure frequency and the outcome of pregnancy amongst a cohort of pregnant women attending antenatal clinic (ANC) at two tertiary hospitals. Methods An observational cohort study conducted at the University of Maiduguri Teaching Hospital and State Specialist Hospital, Northeast Nigeria. Pregnant women attending antenatal care were screened for previous history of active convulsive epilepsy, and recruited consecutively according to a specified protocol. A standardized questionnaire was administered to record pregnancy history, nature of epilepsy and treatments received. They were followed-up during the course of the pregnancy based on the ANC schedule up to delivery. The outcome of pregnancies was recorded. Results A total of 7063 pregnant women were screened, of whom 103 (1.46%) subjects had at least a past history of seizure. Seventy-eight (1.10%) had a past history of seizure(s) from eclampsia and 23 (0.33%) pregnant subjects recruited were identified to have active convulsive epilepsy. The unadjusted prevalence of active convulsive epilepsy in pregnant women was found to be 3.33 per 1000 (95% CI: 2.1–4.8). Subjects who had a history of head injury and encephalitis were more likely to have seizures during pregnancy. (P = 0.013 and P = 0.041). Those who had recurrent seizures within the last six months before recruitment were more likely to have a negative pregnancy outcome (P = 0.043). Conclusion Our study found a prevalence of active epilepsy of 3.33 per 1000 among pregnant women, with about one percent having a past history of seizure from eclampsia.
NeuroAIDS affects half of the 22 million people currently living with HIV/AIDS in sub-Saharan Africa, where cryptococcal meningitis alone is responsible for 504,000 deaths annually. A good understanding of NeuroAIDS may help improve disease-free survival in patients at risk and optimize resource utilization by caregivers. In this review, we aimed to provide a summary of major NeuroAIDS syndromes of relevance in Africa. We searched Medline for English language literature to identify relevant publications, using the search terms "NeuroAIDS" and "HIV AND nervous system." The most common NeuroAIDS syndrome is HIV-associated neurocognitive disorders (HAND), which affects over 1.5 million Africans yearly. While incidence of HAND has decreased with the use of highly active antiretroviral therapy, prevalence has increased due to longer life expectancy. Other NeuroAIDS syndromes include tuberculous meningitis and intracerebral tuberculoma, cryptococcal meningitis, toxoplasma encephalitis, progressive multifocal leukoencephalopathy, primary central nervous system lymphoma, stroke, and distal sensory polyneuropathy. NeuroAIDS care and research in Africa are hindered by resource limitations. Inadequate neuroimaging and laboratory facilities result in diagnostic delays and confusion, while limited access to drugs leads to inappropriate treatment. However, the situation may be improving. Better funding of HIV care by African governments and donor agencies have resulted in decreasing HIV prevalence and prolonged survival. Yet, central nervous system opportunistic infections remain important causes of death and disability among African patients with HIV/AIDS. There is the need for additional funding to improve access to antibiotics and to facilitate further research into NeuroAIDS and its treatment.
Background Clinical disease registries are useful for quality improvement in care, benchmarking standards, and facilitating research. Collaborative networks established thence can enhance national and international studies by generating more robust samples and credible data and promote knowledge sharing and capacity building. This report describes the methodology, baseline data, and prospects of the Nigeria Parkinson Disease Registry. Methods This national registry was established in November 2016. Ethics approval was obtained for all sites. Basic anonymized data for consecutive cases fulfilling the United Kingdom Parkinson's Disease Brain Bank criteria (except the exclusion criterion of affected family members) are registered by participating neurologists via a secure registry website (http://www.parkinsonnigeria.com) using a minimal common data capture format. Results The registry had captured 578 participants from 5 of 6 geopolitical zones in Nigeria by July 2019 (72.5% men). Mean age at onset was 60.3 ± 10.7 years; median disease duration (interquartile range) was 36 months (18–60.5 months). Young‐onset disease (<50 years) represented 15.2%. A family history was documented in 4.5% and 7.8% with age at onset <50 and ≥ 50, respectively. The most frequent initial symptom was tremor (45.3%). At inclusion, 93.4% were on treatment (54.5% on levodopa monotherapy). Per‐capita direct cost for the registry was $3.37. Conclusions This is the first published national Parkinson's disease registry in sub‐Saharan Africa. The registry will serve as a platform for development of multipronged evidence‐based policies and initiatives to improve quality of care of Parkinson's disease and research engagement in Nigeria. © 2020 International Parkinson and Movement Disorder Society
Summary Background Understanding the genetic mechanisms underlying diseases in ancestrally diverse populations is a critical step towards the realization of the global application of precision medicine. The African and African admixed populations enable mapping of complex traits given their greater levels of genetic diversity, extensive population substructure, and distinct linkage disequilibrium patterns. Methods Here we perform a comprehensive genome-wide assessment of Parkinsons disease (PD) in 197,918 individuals (1,488 cases; 196,430 controls) of African and African admixed ancestry, characterizing population-specific risk, differential haplotype structure and admixture, coding and structural genetic variation and polygenic risk profiling. Findings We identified a novel common risk factor for PD and age at onset at the GBA1 locus (risk, rs3115534-G; OR=1.58, 95% CI = 1.37 - 1.80, P=2.397E-14; age at onset, BETA =-2.004, SE =0.57, P = 0.0005), that was found to be rare in non-African/African admixed populations. Downstream short- and long-read whole genome sequencing analyses did not reveal any coding or structural variant underlying the GWAS signal. However, we identified that this signal mediates PD risk via expression quantitative trait locus (eQTL) mechanisms. While previously identified GBA1 associated disease risk variants are coding mutations, here we suggest a novel functional mechanism consistent with a trend in decreasing glucocerebrosidase activity levels. Given the high population frequency of the underlying signal and the phenotypic characteristics of the homozygous carriers, we hypothesize that this variant may not cause Gaucher disease. Additionally, the prevalence of Gauchers disease in Africa is low. Interpretation The present study identifies a novel African-ancestry genetic risk factor in GBA1 as a major mechanistic basis of PD in the African and African admixed populations. This striking result contrasts to previous work in Northern European populations, both in terms of mechanism and attributable risk. This finding highlights the importance of understanding population-specific genetic risk in complex diseases, a particularly crucial point as the field moves toward precision medicine in PD clinical trials and while recognizing the need for equitable inclusion of ancestrally diverse groups in such trials. Given the distinctive genetics of these underrepresented populations, their inclusion represents a valuable step towards insights into novel genetic determinants underlying PD etiology. This opens new avenues towards RNA-based and other therapeutic strategies aimed at reducing lifetime risk. Research in Context Evidence Before this Study Our current understanding of Parkinsons disease (PD) is disproportionately based on studying populations of European ancestry, leading to a significant gap in our knowledge about the genetics, clinical characteristics, and pathophysiology in underrepresented populations. This is particularly notable in individuals of African and African admixed ancestries. Over the last two decades, we have witnessed a revolution in the research area of complex genetic diseases. In the PD field, large-scale genome-wide association studies in the European, Asian, and Latin American populations have identified multiple risk loci associated with disease. These include 78 loci and 90 independent signals associated with PD risk in the European population, nine replicated loci and two novel population-specific signals in the Asian population, and a total of 11 novel loci recently nominated through multi-ancestry GWAS efforts. Nevertheless, the African and African admixed populations remain completely unexplored in the context of PD genetics. Added Value of this Study To address the lack of diversity in our research field, this study aimed to conduct the first genome-wide assessment of PD genetics in the African and African admixed populations. Here, we identified a genetic risk factor linked to PD etiology, dissected African-specific differences in risk and age at onset, characterized known genetic risk factors, and highlighted the utility of the African and African admixed risk haplotype substructure for future fine-mapping efforts. We identified a novel disease mechanism via expression changes consistent with decreased GBA1 activity levels. Future large scale single cell expression studies should investigate the neuronal populations in which expression differences are most prominent. This novel mechanism may hold promise for future efficient RNA-based therapeutic strategies such as antisense oligonucleotides or short interfering RNAs aimed at preventing and decreasing disease risk. We envisage that these data generated under the umbrella of the Global Parkinsons Genetics Program (GP2) will shed light on the molecular mechanisms involved in the disease process and might pave the way for future clinical trials and therapeutic interventions. This work represents a valuable resource in an underserved population, supporting pioneering research within GP2 and beyond. Deciphering causal and genetic risk factors in all these ancestries will help determine whether interventions, potential targets for disease modifying treatment, and prevention strategies that are being studied in the European populations are relevant to the African and African admixed populations. Implications of all the Available Evidence We nominate a novel signal impacting GBA1 as the major genetic risk factor for PD in the African and African admixed populations. The present study could inform future GBA1 clinical trials, improving patient stratification. In this regard, genetic testing can help to design trials likely to provide meaningful and actionable answers. It is our hope that these findings may ultimately have clinical utility for this underrepresented population.
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