Molecular diagnosis of cystic fibrosis in South African populations

Cystic fibrosis (CF) is present in all South African population groups. In a significant proportion of patients a diagnosis of CF can be confirmed by DNAanalysis and the detection of two CF transmembrane conductance regulator (CFTR) mutations, using the panels of mutations developed in this study. The index of suspicion will also be raised in patients with a single CFTR mutation. DNAtesting is important, especially in region s without access to reliable sweat tests, and should be considered an aid to diagnosis. In addition to receiving appropriate treatment, patients and their families can receive more accurate genetic counselling, CF carrier testing and prenatal diagnosis

Robust and inexpensive equipment design for polymerase chain reaction detection of sequence mutations Cystic fibrosis in a mother and 2 children analysed

Every polymerase chain reaction (PCR) requires use of a temperature cycler for about 3 hours. Since there are many diagnostic tests using this technology, it is important that robust but inexpensive machinery is available. Such a standalone machine has been designed and used to analyse an interesting family in which another and her 2 children were diagnosed as having cystic fibrosis

The Impact of Storage Time and Seasonal Harvesting on Levels of Sutherlandins and Sutherlandiosides in Lessertia frutescens

In South Africa, an estimate of 70% of the population frequently uses traditional medicine for their health care needs. The use of Lessertia frutescens (Figure 1,2) by various cultural groups dates back to the earlier civilizations and continues to be used today to treat a multitude of ailments. Even in Western countries, L frutescens is used by many people for its anti-proliferative or anti-inflammatory activities. In establishing quality, safety and efficacy of traditional medicine, one would need to ensure that the crude material is of optimal quality

The impact of COVID-19 vaccines on male semen parameters: a retrospective cohort study

The emergence of SARS-CoV-2 and the subsequent COVID-19 pandemic necessitated the development of adequate vaccines. Despite vaccines being demonstrated to be safe and effective for preventing severe disease and death, vaccine hesitancy remains. Reasons include concerns over adverse effects on male fertility, which have not been widely investigated. Therefore, this study is aimed at determining the impact of COVID-19 vaccination on semen parameters in a retrospective cohort study of South African males undergoing fertility assessment. The patients for this study were adult men who have previously undergone routine semen analysis for fertility assessment at Androcryos Andrology Laboratory (Johannesburg, South Africa) between March 2021 and March 2022. They also received vaccination within 3 months following a semen analysis and underwent a second semen analysis any time post-COVID-19 vaccination. From 277 records analysed, 46 patients met the inclusion criteria, receiving the Pfizer-BioNTech (BNT162b1) (63%), Johnson and Johnson (JNJ-78436735/Ad26.COV2S) (34.8%), and the AstraZeneca (AZD1222) (2.2%) vaccines. Sperm concentration significantly increased postvaccination (), with no significant changes in semen pH, volume, total sperm count, progressive motility, normal sperm morphology, or chromatin condensation. Results were not influenced by age, type of vaccine received, and the number of days following vaccination, as depicted by multiple regression analysis. In conclusion, there is no evidence of a negative impact of COVID-19 vaccination on male semen parameters, which is consistent with the emerging literature on COVID-19 vaccination and male fertility. COVID-19 vaccinations should not be dismissed based on fear of adverse effects on male fertility parameters

Complement component C5 and C6 mutation screening indicated in meningococcal disease in South Africa

BACKGROUND: Invasive meningococcal disease (MD), caused by Neisseria meningitidis infection, is endemic in South Africa, with a seasonal peak in winter and spring. There were 2 432 laboratory-confirmed cases between 2006 and 2010. Human deficiency of the fifth complement component (C5D) or complete absence of the sixth component (C6Q0) leads to increased risk of MD, which is often recurrent. All attacks are serious and can lead to death or severe long-term consequences. OBJECTIVE: To determine the frequency of specific disease-associated C5 and C6 gene mutations in patients presenting with MD in the Western Cape. RESULTS: In 109 patients with confirmed invasive MD investigated for local mutations known to cause C5D and C6Q0, 3 were C5D and 11 were C6Q0. In 46 black patients tested, 3 were C5D and 7 were C6Q0. In 63 coloured patients, none were C5D and 4 were C6Q0. All deficient patients were followed up and offered prophylaxis. CONCLUSION: C5D and C6Q0 are not rare genetic diseases in South Africa and affected patients are susceptible to repeated MD; 12.8% of MD patients tested were C5D or C6Q0. Blacks were at greatest risk with 21.7% being either C5D or C6Q0. We strongly recommend diagnostic testing for complement C5 and C6 deficiency in the routine work-up of all MD cases in South Africa. Prophylactic treatment should be started in susceptible individuals

Complement component C5 and C6 mutation screening indicated in meningococcal disease in South Africa

Background. Invasive meningococcal disease (MD), caused by Neisseria meningitidis infection, is endemic in South Africa, with a seasonal peak in winter and spring. There were 2 432 laboratory-confirmed cases between 2006 and 2010. Human deficiency of the fifth complement component (C5D) or complete absence of the sixth component (C6Q0) leads to increased risk of MD, which is often recurrent. All attacks are serious and can lead to death or severe long-term consequences. Objective. To determine the frequency of specific disease-associated C5 and C6 gene mutations in patients presenting with MD in the Western Cape. Results. In 109 patients with confirmed invasive MD investigated for local mutations known to cause C5D and C6Q0, 3 were C5D and 11 were C6Q0. In 46 black patients tested, 3 were C5D and 7 were C6Q0. In 63 coloured patients, none were C5D and 4 were C6Q0. All deficient patients were followed up and offered prophylaxis. Conclusion. C5D and C6Q0 are not rare genetic diseases in South Africa and affected patients are susceptible to repeated MD; 12.8% of MD patients tested were C5D or C6Q0. Blacks were at greatest risk with 21.7% being either C5D or C6Q0. We strongly recommend diagnostic testing for complement C5 and C6 deficiency in the routine work-up of all MD cases in South Africa. Prophylactic treatment should be started in susceptible individuals

Leadership and early strategic response to the SARS-CoV-2 pandemic at a COVID-19 designated hospital in South Africa

While many countries are preparing to face the COVID-19 pandemic, the reported cases in Africa remain low. With a high burden of both communicable and non-communicable disease and a resource-constrained public healthcare system, sub-Saharan Africa is preparing for the coming crisis as best it can. We describe our early response as a designated COVID-19 provincial hospital in Cape Town, South Africa (SA).While the first cases reported were related to international travel, at the time of writing there was evidence of early community spread. The SAgovernment announced a countrywide lockdown from midnight 26 March 2020 to midnight 30 April 2020 to stem the pandemic and save lives. However, many questions remain on how the COVID-19 threat will unfold in SA, given the significant informal sector overcrowding and poverty in our communities. There is no doubt that leadership and teamwork at all levels is critical in influencing outcomes

Comprehensive analysis of global research on human varicocele: a scientometric approach

Purpose: This study provides a comprehensive analysis of research trends on the etiology, mechanisms, potential risk factors, diagnosis, prognosis, surgical and non-surgical treatment of varicocele, and clinical outcomes before and after varicocele repair. Materials and Methods: Varicocele studies published between 1988 and 2020 were retrieved from the Scopus database on April 5, 2021. Original studies on human varicocele were included, irrespective of language. Retrieved articles were manually screened for inclusion in various sub-categories. Bibliometric data was subjected to scientometric analysis using descriptive statistics. Network, heat and geographic mapping were generated using relevant software. Results: In total, 1,943 original human studies on varicocele were published. These were predominantly from the northern hemisphere and developed countries, and published in journals from the United States and Germany. Network map analysis for countries showed several interconnected nodal points, with the USA being the largest, and Agarwal A. from Cleveland Clinic, USA, being a center point of worldwide varicocele research collaborations. Studies of adolescents were underrepresented compared with studies of adults. Studies on diagnostic and prognostic aspects of varicocele were more numerous than studies on varicocele prevalence, mechanistic studies and studies focusing on etiological and risk factors. Varicocele surgery was more investigated than non-surgical approaches. To evaluate the impact of varicocele and its treatment, researchers mainly analyzed basic semen parameters, although markers of seminal oxidative stress are being increasingly investigated in the last decade, while reproductive outcomes such as live birth rate were under-reported in the literature. Conclusions: This study analyzes the publication trends in original research on human varicocele spanning over the last three decades. Our analysis emphasizes areas for further exploration to better understand varicocele’s impact on men’s health and male fertility