Genotypic characterisation of human papillomavirus infections among persons living with HIV infection; a case-control study in Kumasi, Ghana.

OBJECTIVES: The objective of this study is to describe the burden of human papillomavirus (HPV) infection among women living with HIV and non-infected women in Ghana. METHODS: A case-control study was conducted involving 107 women living with HIV aged between 18 and 59 years (cases) and 100 non-HIV-infected apparently healthy women (controls) who were recruited from the Kumasi South Hospital, from July to December, 2014. Cervicovaginal swabs were taken from study participants to characterise 28 high- and low-risk HPV genotypes using a multiplex real-time PCR. RESULTS: The overall mean age for the participants was 40.10 ± 9.76 years. The prevalence of high-risk (hr)-HPV genotypes was significantly higher among the cases than the controls (77.4% vs. 41.6%, P < 0.0001). Overall, HPV 58 and 54 were the most predominant high-risk (18.8%) and low-risk (15.0%) genotypes detected. The two most common hr-HPV genotype isolates were 58 (18.8%) and 35 (15.9%) with 58 being the most prevalent among age group 35-44 years compared with hr-HPV 16, 18, 35 and 45, found predominantly among 18-34 age group. CONCLUSIONS: Significant variations exist in HPV genotypes among HIV-infected and uninfected women.

Radiation Therapy for Breast Cancer in Africa.

Purpose: Although radiation therapy is an effective treatment for breast cancer, it has a low rate of use in African countries. A systematic review was undertaken to investigate studies that used radiation therapy as a treatment modality for patients with breast cancer in Africa, focusing on survival outcomes, adverse effects, radiation therapy techniques, fractionation schedules, and effectiveness of radiation therapy. Methods and Materials: We conducted a comprehensive literature search for studies that treated breast cancer with radiation therapy, using different electronic databases (PubMed, Scopus, and EBSCOhost) up to February 2023. The output was exported to a reference management system for analyses. Results: The literature search primarily identified 3804 records from Scopus (2427), PubMed (982), and EBSCOhost (395). Based on the inclusion and exclusion criteria, 19 articles were finally included in this systematic review. Most of the studies published were conducted in North Africa (63%), followed by West Africa (21%) and Southeast Africa (16%). Most centers employed external beam radiation therapy to deliver radiation therapy to patients with breast cancer with the standard fractionation size of 50 Gy in 25 fractions. The long-term outcomes with regards to adverse effect suggests that radiation therapy was fairly tolerated among patients with breast cancer. Conclusions: The reports provide substantial evidence that there are limited number of published studies on the use of radiation therapy for breast cancer treatment in Africa, as well as lower overall survival rate compared with developed countries. To improve breast cancer survivorship, it is necessary for government and other health care planners to provide more radiation therapy resources and implement training programs for personnels.

RNA-seq research landscape in Africa: systematic review reveals disparities and opportunities.

RNA sequencing has emerged as the standard method for transcriptome profiling of several human diseases. We performed a systematic review detailing the state of RNA-seq analyses in Africa from its inception till February 2022. Our goal was to provide an update on the state of RNA-seq analyses in Africa, including research gaps, funding information, participants information, authorship and collaborations. Following the PRISMA guidelines, we performed an exhaustive literature search for RNA-seq studies conducted in Africa, using PubMed, Scopus and Academic Search Complete (EBSCOhost). The output was exported to Endnote X9 for analyses. The initial literature search yielded 10,369 articles spread across PubMed (4916), Scopus (4847) and EBSCOhost (580). By applying our exclusion criteria, 28 full-text articles remained and were thoroughly analyzed. Overall, 17 human diseases were studied, including cancers (10/28), infectious disease (4/28), parasitic disease (4/28), autoimmune disorders (2/28) and neglected tropical diseases (2/28). Majority of the articles were published in PLoS Pathogens, BioMed Central and Nature. The National Institutes of Health (42.4%), the Bill & Melinda Gates Foundation (7.5%) and the Wellcome Trust (7.5%) were the top funders of the research studies. Eleven African countries contributed to the participant group, with 57% located in Eastern Africa, 23.1% from Western and 16.7% from Southern Africa. The extremely low number of RNA-seq research studies in Africa is worrying and calls for an immediate investment in research by the African governments. The funding agencies and institutional review boards should also ensure that African collaborators are treated equitably in the course of the research projects.

Genes associated with diagnosis and prognosis of Burkitt lymphoma.

Burkitt lymphoma (BL) is one of the most aggressive forms of non-Hodgkin's lymphomas that affect children and young adults. The expression of genes and other molecular markers during carcinogenesis can be the basis for diagnosis, prognosis and the design of new and effective drugs for the management of cancers. The aim of this study was to identify genes that can serve as prognostic and therapeutic targets for BL. We analysed RNA-seq data of BL transcriptome sequencing projects in Africa using standard RNA-seq analyses pipeline. We performed pathway enrichment analyses, protein-protein interaction networks, gene co-expression and survival analyses. Gene and pathway enrichment analyses showed that the differentially expressed genes are involved in tube development, signalling receptor binding, viral protein interaction, cell migration, external stimuli response, serine hydrolase activity and PI3K-Akt signalling pathway. Protein-protein interaction network analyses revealed the genes to be highly interconnected, whereas module analyses revealed 25 genes to possess the highest interaction score. Overall survival analyses delineated six genes (ADAMTSL4, SEMA5B, ADAMTS15, THBS2, SPON1 and THBS1) that can serve as biomarkers for prognosis for BL management.

New Clues to Prognostic Biomarkers of Four Hematological Malignancies.

Globally, one out of every two reported cases of hematologic malignancies (HMs) results in death. Each year approximately 1.24 million cases of HMs are recorded, of which 58% become fatal. Early detection remains critical in the management and treatment of HMs. However, this is thwarted by the inadequate number of reliable biomarkers. In this study, we mined public databases for RNA-seq data on four common HMs intending to identify novel biomarkers that could serve as HM management and treatment targets. A standard RNA-seq analysis pipeline was strictly adhered to in identifying differentially expressed genes (DEGs) with DESeq2, limma+voom and edgeR. We further performed gene enrichment analysis, protein-protein interaction (PPI) network analysis, survival analysis and tumor immune infiltration level detection on the genes using G:Profiler, Cytoscape and STRING, GEPIA tool and TIMER, respectively. A total of 2,136 highly-ranked DEGs were identified in HM vs. non-HM samples. Gene ontology and pathway enrichment analyses revealed the DEGs to be mainly enriched in steroid biosynthesis (5.075×10-4), cholesterol biosynthesis (2.525×10-8), protein binding (3.308×10-18), catalytic activity (2.158×10-10) and biogenesis (5.929×10-8). The PPI network resulted in 60 hub genes which were verified with data from TCGA, MET500, CPTAC and GTEx projects. Survival analyses with clinical data from TCGA showed that high expression of SRSF1, SRSF6, UBE2Z and PCF11, and low expression of HECW2 were correlated with poor prognosis in HMs. In summary, our study unraveled essential genes that could serve as potential biomarkers for prognosis and may serve as drug targets for HM management.

Current perspectives on the transmission of Q fever: Highlighting the need for a systematic molecular approach for a neglected disease in Africa.

Q fever is a bacterial worldwide zoonosis (except New Zealand) caused by the Gram-negative obligate intracellular bacterium Coxiella burnetii (C. burnetii). The bacterium has a large host range including arthropods, wildlife and companion animals and is frequently identified in human and livestock populations. In humans, the disease can occur as either a clinically acute or chronic aetiology, affecting mainly the lungs and liver in the acute disease, and heart valves when chronic. In livestock, Q fever is mainly asymptomatic; however, the infection can cause abortion, and the organism is shed in large quantities, where it can infect other livestock and humans. The presence of Q fever in Africa has been known for over 60 years, however while our knowledge of the transmission routes and risk of disease have been well established in many parts of the world, there is a significant paucity of knowledge across the African continent, where it remains a neglected zoonosis. Our limited knowledge of the disease across the African sub-continent have relied largely upon observational (sero) prevalence studies with limited focus on the molecular epidemiology of the disease. This review highlights the need for systematic studies to understand the routes of C. burnetii infection, and understand the disease burden and risk factors for clinical Q fever in both humans and livestock. With such knowledge gaps filled, the African continent could stand a better chance of eradicating Q fever through formulation and implementation of effective public health interventions.

A comparative study of different laboratory storage conditions for enhanced DNA analysis of crime scene soil-blood mixed sample.

Crime scene investigation is an important step in the entire criminal investigation process because this is where evidence is gathered. Blood from the perpetrator or victim of a crime can be left at crime scenes or transferred to other materials such as clothing, knives and guns. Most often, this body fluid is contaminated with soil at outdoor crime scenes but this might be the only or the most important evidence in solving a crime. This work aimed at identifying the most appropriate method of storing crime scene soil-blood mixed sample prior to analysis at the laboratory. Human blood was mixed with soil and stored at three different storage conditions (i.e., Room temperature/25°C, 4°C and -20°C). Samples stored at room temperature saw significant reduction in DNA concentration as storage time increased (P=0.001). Samples stored at 4°C saw a drastic decrease in DNA concentration just after two weeks of storage. By the eighth week of storage at 4°C, there was no detectable DNA (P=0.000). Samples stored at -20°C recorded no specific pattern in decrease or increase in DNA concentration for the entire 12week storage (P=0.324). There were full STR Profiles generated for room temperature stored samples and -20°C stored samples throughout the study. There were full, partial and null Profiles generated for 4°C stored samples depending on the sample storage duration. In conclusion, -20°C was identified as the best storage condition for soil-blood mixed sample followed by room temperature and 4°C, respectively.

Development of Bioinformatics Infrastructure for Genomics Research.

BACKGROUND: Although pockets of bioinformatics excellence have developed in Africa, generally, large-scale genomic data analysis has been limited by the availability of expertise and infrastructure. H3ABioNet, a pan-African bioinformatics network, was established to build capacity specifically to enable H3Africa (Human Heredity and Health in Africa) researchers to analyze their data in Africa. Since the inception of the H3Africa initiative, H3ABioNet's role has evolved in response to changing needs from the consortium and the African bioinformatics community. OBJECTIVES: H3ABioNet set out to develop core bioinformatics infrastructure and capacity for genomics research in various aspects of data collection, transfer, storage, and analysis. METHODS AND RESULTS: Various resources have been developed to address genomic data management and analysis needs of H3Africa researchers and other scientific communities on the continent. NetMap was developed and used to build an accurate picture of network performance within Africa and between Africa and the rest of the world, and Globus Online has been rolled out to facilitate data transfer. A participant recruitment database was developed to monitor participant enrollment, and data is being harmonized through the use of ontologies and controlled vocabularies. The standardized metadata will be integrated to provide a search facility for H3Africa data and biospecimens. Because H3Africa projects are generating large-scale genomic data, facilities for analysis and interpretation are critical. H3ABioNet is implementing several data analysis platforms that provide a large range of bioinformatics tools or workflows, such as Galaxy, the Job Management System, and eBiokits. A set of reproducible, portable, and cloud-scalable pipelines to support the multiple H3Africa data types are also being developed and dockerized to enable execution on multiple computing infrastructures. In addition, new tools have been developed for analysis of the uniquely divergent African data and for downstream interpretation of prioritized variants. To provide support for these and other bioinformatics queries, an online bioinformatics helpdesk backed by broad consortium expertise has been established. Further support is provided by means of various modes of bioinformatics training. CONCLUSIONS: For the past 4 years, the development of infrastructure support and human capacity through H3ABioNet, have significantly contributed to the establishment of African scientific networks, data analysis facilities, and training programs. Here, we describe the infrastructure and how it has affected genomics and bioinformatics research in Africa.