South African medical journal = Suid-Afrikaanse tydskrif vir geneeskunde
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Each year, ~89,000 (180/100,000) new cases of head injury are reported in South Africa (SA), with the majority of patients being in the economically active population. Hypotension and hypoxaemia significantly increase the morbidity and mortality in patients who have suffered a traumatic brain injury (TBI). Cerebral tissue is particularly vulnerable to these secondary insults in the period immediately following a TBI, emphasising the importance of prehospital care in TBI. ⋯ The prevalence of hypotension in this study was similar to that observed in international studies, but the prevalence of hypoxaemia was much higher. There is a need for local guidelines to be developed to inform the quality of TBI care in the context of the developing world.
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Childhood cancer is relatively rare, but there is a very good chance of cure. While overall survival rates of >70% are reported from developed countries, survival is much less likely in developing countries and unknown in many countries in Africa. ⋯ Overall survival rates for children admitted to two paediatric cancer units in South Africa were lower than data published from developed countries, because many children presented with advanced disease. New strategies to improve cancer awareness are urgently required.
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The most common single-nucleotide polymorphism in the insulin receptor substrate-1 (IRS1) gene is Gly972Arg, which is associated with a 25% increased risk of developing diabetes. The mixed-ancestry population of South Africa (SA) has one of the highest prevalences of type 2 diabetes mellitus (T2DM) in Africa. ⋯ The prevalence of the Gly972Arg variant in the mixed-ancestry population of SA is comparable to that reported in African Americans, but its presence is not associated with cardiometabolic traits. This suggests that the Gly972Arg variant may not aid diabetes risk evaluation in this setting, nor can such information help explain the high prevalence of diabetes previously reported in this population.
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Afrikaners are a unique ethnic group in South Africa (SA) with well-documented ancestral records spanning a period of over 350 years. They are mainly descended from Dutch, German and French settlers to SA in the 17th and 18th centuries. Today several disorders in this population occur at relatively high frequencies as a result of founder effects.Objective. To determine whether a founder effect for Parkinson's disease (PD) is present in the Afrikaner population. ⋯ If genetic studies confirm the presence of a founder effect for PD in Afrikaners, this would imply that there is a large number of individuals from this ethnic group who may potentially be at risk of developing this debilitating condition. This study illustrates and reinforces the concept that genealogical analysis is a powerful tool for identification of founder effects for various disorders in the Afrikaner population.