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Spectrum of MYO7A mutations in an indigenous South African population further elucidates the nonsyndromic autosomal recessive phenotype of DFNB2 to include both homozygous and compound heterozygous mutations
Get PDFMYO7A gene encodes unconventional myosin VIIA, which, when mutated, causes a phenotypic spectrum ranging from recessive hearing loss DFNB2 to deaf-blindness, Usher Type 1B (USH1B). MYO7A mutations are reported in nine DFNB2 families to date, none from sub-Saharan Africa.In DNA, from a cohort of 94 individuals representing 92 families from the Limpopo province of South Africa, eight MYO7A variations were detected among 10 individuals. Family studies identified homozygous and compound heterozygous mutations in 17 individuals out of 32 available family members. Four mutations were novel, p.Gly329Asp, p.Arg373His, p.Tyr1780Ser, and p.Pro2126Leufs*5. Two variations, p.Ser617Pro and p.Thr381Met, previously listed as of uncertain significance (ClinVar), were confirmed to be pathogenic.
The identified mutations are predicted to interfere with the conformational properties of myosin VIIA through interruption or abrogation of multiple interactions between the mutant and neighbouring residues. Specifically, p.Pro2126Leufs*5, is predicted to abolish the critical site for the interactions between the tail and the motor domain essential for the autoregulation, leaving a non-functional, unregulated protein that causes hearing loss. We have identified MYO7A as a possible key deafness gene among indigenous sub-Saharan Africans. The spectrum of MYO7A mutations in this South African population points to DFNB2 as a specific entity that may occur in a homozygous or in a compound heterozygous state
Managing therapeutic uncertainty in the COVID-19 pandemic: rapid evidence syntheses and transparent decision-making
Get PDFCan public sector community health workers deliver a nurturing care intervention in South Africa? The Amagugu Asakhula feasibility study
Get PDFBackground: Nurturing care interventions have the potential to promote health and development in early childhood. Amagugu Asakhula was designed to promote developmentally important dietary and movement behaviours among children of preschool age (3-5 years) in South Africa. An initial formative study in Cape Town found the intervention to be feasible and acceptable when delivered by community health workers (CHWs) linked to a community-based organisation. This study evaluated the delivery of the Amagugu Asakhula intervention by CHWs linked to a public sector primary health care facility in Soweto, as this mode of delivery could have more potential for sustainability and scalability.
Methods: A qualitative design was utilised to assess feasibility, acceptability, adoption, appropriateness, implementation, fidelity and context. CHWs (n = 14) delivered the intervention to caregivers (n = 23) of preschool-age children in Soweto over 6 weeks. Following the completion of the intervention, focus group discussions were held with CHWs and caregivers. Further data were obtained through observations, study records and key informant interviews (n = 5). Data were analysed using deductive thematic analysis guided by a process evaluation framework.
Results: The delivery of the Amagugu Asakhula intervention through CHWs linked to a primary health care facility in Soweto was not found to be feasible due to contextual challenges such as late payment of salaries influencing CHW performance and willingness to deliver the intervention. CHWs expressed dissatisfaction with their general working conditions and were thus reluctant to take on new tasks. Despite barriers to successful delivery, the intervention was well received by both CHWs and caregivers and was considered a good fit with the CHWs' scope of work.
Conclusions: Based on these findings, delivery of the Amagugu Asakhula intervention is not recommended through public sector CHWs in South Africa. This feasibility study informs the optimisation of implementation and supports further testing of the intervention's effectiveness when delivered by CHWs linked to community-based organisations. The present study further demonstrates how implementation challenges can be identified through qualitative feasibility studies and subsequently addressed prior to large-scale trials, avoiding the wasting of research and resources
Re: Next steps to prevent stillbirth associated with growth restriction continuous-wave Doppler, fetal growth restriction and small-for-gestational-age babies
No full textIvermectin for treatment of COVID-19: Evidence review of clinical benefits and harms
Get PDFIvermectin is an antiparasitic drug that is commonly used for the treatment and prophylaxis of onchocerciasis and treatment of strongyloidiasis and intractable scabies. Ivermectin is not approved, globally, as an antiviral agent
Long non-coding RNAs (LncRNAs), viral oncogenomics, and aberrant splicing events: Therapeutics implications
Get PDFIt has been estimated that worldwide up to 10% of all human cancers are the result of viral infection, with 7.2% of all cancers in the developed world have a viral aetiology. In contrast, 22.9% of infections in the developing world are the result of viral infections. This number increases to 30% in Sub-Saharan Africa. The ability of viral infections to induce the transformation of normal cells into cancerous cells is well documented. These viruses are mainly Hepatitis B and C viruses, Epstein Barr virus, Human papillomavirus and Human Cytomegalovirus. They can induce the transformation of normal cells into cancer cells and this may be the underlying cause of carcinogenesis in many different types of cancer. These include liver cancer, lymphoma, nasopharyngeal cancer, cervical cancer, gastric cancer and even glioblastoma. Long non-coding RNAs (LncRNAs) can function by regulating the expression of their target genes by controlling the stability of the target mRNAs or by blocking translation of the target mRNA. They can control transcription by regulating the recruitment of transcription factors or chromatin modification complexes. Finally, lncRNAs can control the phosphorylation, acetylation, and ubiquitination of proteins at the post-translation level. Thus, altering protein localisation, function, folding, stability and ultimately expression. In addition to these functions, lncRNA also regulate alternate pre-mRNA splicing in ways that contribute to the formation of tumours. This mainly involves the interaction of lncRNAs with splicing factors, which alters their activity and function.
The ability of lncRNAs to regulate the stability, expression and function of tumour suppressor proteins is important in the development and progression of cancers. LncRNAs also regulate viral replication and latency, leading to carcinogenesis. These factors all make lncRNAs ideal targets for the development of biomarker arrays that can be based on secreted lncRNAs leading to the development of affordable non-invasive biomarker tests for the stage specific diagnosis of tumours. These lncRNAs can also serve as targets for the development of new anticancer drug treatments.The authors would like to thank the South African Medical Research Council (SAMRC) for funding this research
Nigeria and the next pandemic: Preparedness, response & vaccines
No full textThe Conversation Africa Webinar, speaker and panelist at TC-Africa science-policy virtual dialogue
From “learning from the field” to jointly driving change
No full textThe theme of the 8th edition of the Geneva Health Forum (GHF) was Improving access to health: learning from the field. While 'the field' often denotes people, patients, communities, and healthcare workers, we challenge the notion and its usage. A group of like-minded conference participants set up a working group to examine the term 'the field' and look at questions related to language, power, participation, and rights. By highlighting deficiencies of existing terms and jargon, we explain why language is a form of power that matters in public health.
We describe global, regional, and national case studies that facilitate full participation to achieve more equitable health outcomes. By concluding with concrete recommendations, we hope to contribute to these shared goals: to correct power imbalances between health authorities and the people that they intend, and are expected, to serve. The authors are all members of the working group
Cognitive insight is associated with perceived body weight in overweight and obese adults
Get PDFBackground: Accurate perception of body weight is necessary for individuals with a high body mass index (BMI) to initiate strategies to improve their health status. Furthermore, identifying factors that influence accurate body weight perception can assist in designing appropriate educational and weight management programs. We therefore aimed to investigate whether levels of cognitive functioning and insight influence the ability to correctly judge body weight.
Methods: One hundred and eighty four overweight and obese adults who participated in a cross- sectional case-control study and were controls in the aforementioned study were included. The study was conducted in Cape Town, South Africa. Demographic, weight-related, neuropsychiatric, neurocognitive and cognitive insight measures were administered. Regression analysis was conducted to determine the factors associated with correct weight perception.
Results: The final regression model explained 52.3% of variation in accurate perception of body weight and was significant (p ≤ 0. 001). The model correctly classified 79.3% of individuals who were able to correctly and incorrectly judge their weight. Adults with higher BMI, and lower self-certainty, those who reported that they had gained weight in the previous year and those who were told by a healthcare professional to lose or maintain a healthy weight were more likely to correctly judge their weight.
Conclusion: Some aspects of cognitive insight (self-certainty) but not cognitive functioning were associated with perception of body weight in this sample. Awareness of recent weight changes, higher BMI and advice from of health care professionals were also significantly associated with perception of body weight, while demographic variables were not. Understanding the factors that contribute to the correct perception of weight is important in identifying appropriate health interventions that may address the burden of associated non-communicable diseases in overweight and obese individuals.Research reported in this publication was supported by the South African Medical Research Council for the “Shared Roots” Flagship Project, Grant no. MRC-RFA-IFSP-01-2013/SHARED ROOTS” through funding received from the South African National Treasury under its Economic Competitiveness and Support Package