Scielo RSS <![CDATA[SAMJ: South African Medical Journal]]> http://www.scielo.org.za/rss.php?pid=0256-957420190006&lang=en vol. 109 num. 6 lang. en <![CDATA[SciELO Logo]]> http://www.scielo.org.za/img/en/fbpelogp.gif http://www.scielo.org.za <![CDATA[<b>Climate change and control of diarrhoeal diseases in South Africa: Priorities for action Connections between temperature and diarrhoeal disease</b>]]> http://www.scielo.org.za/scielo.php?script=sci_arttext&pid=S0256-95742019000600001&lng=en&nrm=iso&tlng=en <![CDATA[<b>Medical genetics, genomics and the future of medicine</b>]]> http://www.scielo.org.za/scielo.php?script=sci_arttext&pid=S0256-95742019000600002&lng=en&nrm=iso&tlng=en <![CDATA[<b>An overview of the genetic basis of cardiovascular disease</b>]]> http://www.scielo.org.za/scielo.php?script=sci_arttext&pid=S0256-95742019000600003&lng=en&nrm=iso&tlng=en Cardiovascular disease (CVD) is the leading cause of mortality globally. CVD comprises a wide range of clinical entities, i.e. cardiomyopathies, hypertension, aortopathies, coronary artery disease, valvular heart disease, congenital heart disease, dyslipidaemia and arrhythmias, which are heritable. In the past 5 decades, substantial effort has been invested in understanding the genes and specific DNA sequence variants responsible for this heritability. The explosion of new knowledge of genetics and genomics of rare and common forms of CVD has provided a framework for precision cardiology. In this brief review, we summarise the current state of concepts and knowledge of the genetic basis of CVD and reflect on the lessons learnt regarding monogenic, complex polygenic and common forms of CVD. We highlight the pitfalls in interpretation of genetic variants and explore the challenging journey of gene discovery - from genomic localisation to mechanistic insights and finally developing therapies based on identified targets. We discuss the impact of next-generation sequencing and the role of functional studies in understanding the mechanisms by which genetic variation contributes to CVD. Finally, we recommend an approach to genetic testing and counselling for affected individuals and their family members, who may be at risk of developing CVD. <![CDATA[<b>Epigenetics - an introductory overview</b>]]> http://www.scielo.org.za/scielo.php?script=sci_arttext&pid=S0256-95742019000600004&lng=en&nrm=iso&tlng=en Epigenetics or imprinting refers to the process of 'chemically' marking the central A, C, G, T double-stranded DNA code. In the past several decades a deeper understanding has been gained of a wide range of mechanisms that have been invoked in biology for the purpose of regulating gene expression and dosage of protein products that are effectively translated and functional in the cells. We mostly carry two copies of a gene (one per non-sex chromosome inherited from each of our parents) in each of our somatic cells; however, some genes are required to have two functional copies in each cell, while others require no less than one copy, but are tolerant of more than one copy. There are very specific genes, often dealing with growth and development, which are, however, only ever needed in a single copy; any more or any less is problematic and even lethal. Epigenetics is the process of reversibly 'marking' genes, either driven by endogenous processes or through exposure to environmental factors, such that they may be effectively silenced. Human development requires an orderly and systematic means of switching on and off of genes; understandably, if there is a mutation affecting this process, it leads to disease, while exposure to chemicals or other experiential stimuli may have a similar effect. This review provides a broad outline of epigenetics and genetic imprinting on human and mammalian development and disease. <![CDATA[<b>Ethical considerations in genomic research in South Africa</b>]]> http://www.scielo.org.za/scielo.php?script=sci_arttext&pid=S0256-95742019000600005&lng=en&nrm=iso&tlng=en The conduct of genomic research in South Africa (SA) raises a number of ethical challenges that need to be addressed in its design and execution. These include, for example, considerations of consent, community engagement, stigmatisation, feedback of findings and ensuring that genomic research is of benefit to patients and researchers in SA. We provide an overview of the current debates on some of these issues and pointers for further reading. <![CDATA[<b>Rational use of the fluoroquinolones</b>]]> http://www.scielo.org.za/scielo.php?script=sci_arttext&pid=S0256-95742019000600006&lng=en&nrm=iso&tlng=en The systemic fluoroquinolones (FQs) have recently been reported to be associated with significant side-effects in susceptible individuals. This has prompted the Food and Drug Administration (FDA) in the USA and the European Medicines Agency (EMA) to issue warnings regarding their use. The FQs should not be used for common bacterial infections, such as urinary tract infections, travellers' diarrhoea and upper and lower respiratory tract infections, unless it is not possible to use another oral agent. There are situations, however, in which these agents are not only effective, but their benefit outweighs the risk. These include the management of conditions such as acute prostatitis, typhoid fever, prosthetic joint infections, multidrug-resistant tuberculosis, certain hospital-acquired infections and situations where the organism is susceptible to FQs, which could then be administered orally. Alternatively, the patient would have to be admitted to hospital for parenteral therapy. <![CDATA[<b>Utility of crime surveys for Sustainable Development Goals monitoring and violence prevention using a public health approach</b>]]> http://www.scielo.org.za/scielo.php?script=sci_arttext&pid=S0256-95742019000600007&lng=en&nrm=iso&tlng=en The Sustainable Development Goals (SDGs) have highlighted interpersonal violence and violence against women and girls as impediments to development globally. South Africa is adversely affected by violence and injury. The annual Victims of Crime Survey (VoCS) provides a potentially useful source of complementary data to bolster vital registration and police crime statistics, but it may not provide data that are sufficiently accurate and reliable to inform prevention efforts. We conducted a critical assessment of the VoCS's methodological robustness and strength as a data source for high-level analyses, adopting a public health and SDGs monitoring perspective that was based on expert opinion and comparison with other data sources. We concluded that either the survey methods should be improved to provide findings that are better aligned with the SDGs agenda and are robust enough to inform high-quality research and prevention, or the funds used to conduct the VoCS should be redirected to other more suitable instruments. <![CDATA[<b>How patent law reform can improve affordability and accessibility of medicines in South Africa: Four medicine case studies</b>]]> http://www.scielo.org.za/scielo.php?script=sci_arttext&pid=S0256-95742019000600008&lng=en&nrm=iso&tlng=en South Africa (SA) is in the process of amending its patent laws. Since its 2011 inception, Fix the Patent Laws, a coalition of 40 patient groups, has advocated for reform of SAs patent laws to improve affordability of medicines in the country. Building on two draft policies (2013, 2017) and a consultative framework (2016) for reform of SAs patent laws, Cabinet approved phase 1 of the Intellectual Property Policy of the Republic of South Africa on 23 May 2018. Fix the Patent Laws welcomed the policy, but highlighted concerns regarding the absence of important technical details, as well as the urgent need for government to develop bills, regulations and guidelines to provide technical detail and to codify and implement patent law reform in the country. In this article, we explore how reforms proposed in SAs new intellectual property policy could improve access to medicine through four medicine case studies. <![CDATA[<b>Systematic review of interventions aimed at reducing hookah pipe use: Implications for practitioners and clinicians</b>]]> http://www.scielo.org.za/scielo.php?script=sci_arttext&pid=S0256-95742019000600009&lng=en&nrm=iso&tlng=en BACKGROUND. Globally, tobacco ranks as one of the major risk factors for death, disease and disability. While strong measures have been implemented to reduce cigarette use, there are alternative ways to smoke tobacco, such as the hookah pipe. Hookah pipe use appears to pose a significant public health concern and has serious short- and long-term health consequences for users and those exposed to second-hand smoke. To date, few studies have reviewed hookah pipe interventions beyond the efficacy-based paradigm. OBJECTIVES. To systematically review interventions aimed at reducing hookah pipe use through the RE-AIM framework (reach, efficacy, adoption, implementation and maintenance of results) in order to provide a practical means of evaluating interventions. METHODS. A systematic review spanning 12 databases identified studies aimed at reducing hookah pipe use. All methodological types of intervention studies that were peer reviewed and in the English language were considered for inclusion. The quality of each study was assessed. Ten studies were deemed eligible. For each study, data were extracted using the RE-AIM framework. RESULTS. All studies focused solely on the smoker, and their recruitment strategies were described. Eight studies reported meeting their objectives. Overall, the studies presented limited information regarding adoption success. The interventions were mainly supportive, educational or counselling sessions. Only five studies reported on the maintenance of results post intervention. CONCLUSIONS. Interventions focusing on reducing hookah pipe use are limited. Counselling and educational support sessions seem to be the most feasible and potentially successful approaches for intervention. <![CDATA[<b>Audit of diabetic ketoacidosis management at a tertiary hospital in Johannesburg, South Africa</b>]]> http://www.scielo.org.za/scielo.php?script=sci_arttext&pid=S0256-95742019000600010&lng=en&nrm=iso&tlng=en BACKGROUND. Continuous intravenous infusion (CII) of insulin is the preferred method of treating diabetic ketoacidosis (DKA) worldwide, especially in patients with severe DKA. There is limited evidence evaluating low-dose bolus intravenous (IV) insulin management of DKA out of the intensive care unit (ICU). OBJECTIVES. To conduct an audit of patients admitted with DKA, who were managed with bolus IV insulin at the medical acute-care unit (MACU), Chris Hani Baragwanath Academic Hospital (CHBAH), Johannesburg, South Africa, over a 4-month period to evaluate whether this is an effective treatment modality, as well as assess patient, disease and management characteristics related to the admissions. Methods. A prospective cross-sectional cohort study was done, interviewing 69 DKA patients from 1 September to 31 December 2017, and collecting relevant biochemical results from their hospital records. The current management protocol at CHBAH was observed, i.e. insulin therapy administered hourly as 10 IU IV insulin. The time to resolution of DKA, complications and deaths were recorded. RESULTS. Our cohort was predominantly male (60.56%), with an average age of 36 years. All patients were successfully treated with bolus IV insulin, with an average time to resolution of 21 hours. DKA was categorised as mild (19.72%), moderate (50.7%) and severe (29.58). Most patients presented with raised inflammatory markers (64.79%) and some degree of renal impairment (>60%). Complications occurred in 9 patients (12.68%); 7 of these were related to factors precipitating the DKA admission. No deaths occurred. The only factor predicting a longer time to resolution was severity, with an odds ratio of 4.89 (confidence interval 1.04 - 22.84; p=0.044). CONCLUSIONS. Outcomes are favourable, with bolus IV insulin being used as the treatment modality in patients with mild, moderate and severe DKA at CHBAH. Further studies are needed to corroborate these results in other centres. <![CDATA[<b>Causes of maternal death at Natalspruit Hospital, Johannesburg, South Africa</b>]]> http://www.scielo.org.za/scielo.php?script=sci_arttext&pid=S0256-95742019000600011&lng=en&nrm=iso&tlng=en BACKGROUND. Despite increased resources to reduce maternal deaths, South Africa (SA) has an unacceptably high maternal mortality rate (MMR). OBJECTIVES. To determine the causes of maternal deaths at Natalspruit Hospital, Johannesburg, SA. METHODS. A 2-year retrospective audit of case records was done All maternal deaths from January 2013 to December 2014 were included. RESULTS. There were 20 676 live births and 79 deaths, with a MMR of 382.08/100 000. Forty-four women (56%) were HIV-positive, 14 (21%) died of obstetric haemorrhage and 12 (15%) had hypertensive disorders of pregnancy. Thirty women (38%) had not attended an antenatal clinic. More women died between 16h00 and 08h00 than between 08h00 and 16h00. Most women (88%) had at least one avoidable factor. CONCLUSIONS. Natalspruit Hospital has a high MMR. The majority of deaths were HIV-related. There was a high number of women who were unbooked. Most deaths occurred after normal working hours. <![CDATA[<b>Preventable warfarin-induced birth defects: A missed opportunity?</b>]]> http://www.scielo.org.za/scielo.php?script=sci_arttext&pid=S0256-95742019000600012&lng=en&nrm=iso&tlng=en BACKGROUND. Congenital abnormalities and pregnancy losses due to the teratogenic effects of warfarin are prevalent among the South African population. These are potentially preventable if the challenges and barriers faced by at-risk women are understood and addressed effectively. OBJECTIVES. To determine the practice, knowledge and attitudes regarding the teratogenic risks experienced by women administered warfarin. METHODS. A descriptive study was performed. Quantitative data were collected through a researcher-administered questionnaire. The target population comprised 101 women of reproductive age who received warfarin treatment and attended a single tertiary-level anticoagulation clinic. RESULTS. Patient-related challenges identified in this study are: language barriers, poor understanding of basic terminology and mathematics, poor contraceptive and family planning practices, lack of knowledge regarding the risks of warfarin in pregnancy and passive attitudes towards information attainment. CONCLUSIONS. Interventions are necessary to address the challenges in such settings. These include increased awareness of the teratogenic potential of specific chronic medications among healthcare providers, patients and the public. Standardised management protocols for women of reproductive age initiated on teratogenic medications should be implemented, including contraceptive and family planning discussions at follow-up visits. Improvement of the counselling skills of healthcare providers and the availability of translators or healthcare providers fluent in local languages could assist in risk reduction. <![CDATA[<b>Tympanostomy tube insertion practice in under-18-year-olds in the South African private healthcare sector insured by Discovery Health</b>]]> http://www.scielo.org.za/scielo.php?script=sci_arttext&pid=S0256-95742019000600013&lng=en&nrm=iso&tlng=en BACKGROUND. The reported rates of tympanostomy tube insertion (TTI) in children vary significantly internationally. Lack of adherence to evidence-based clinical guidelines may contribute to these differences. OBJECTIVES. To study the rates of TTI in South Africa (SA) in children <18 years old in the private healthcare sector, both nationally and regionally, to compare these with international TTI rates, and to determine the use of preoperative audiometry and tympanometry. METHODS. A retrospective analysis was done of data obtained from the Discovery Health database. Rates of TTI were analysed nationally and regionally and in different age groups, as was the use of tympanometry and audiograms. RESULTS. The SA TTI rates were much higher than published international rates except for the 0 - 1-year age group in Canada and Denmark and the 0 - 15-year age group in Denmark. There was a statistically significant regional variation in TTI rates as well as in the use of preoperative audiometry and tympanometry. CONCLUSIONS. SA private sector TTI rates are high by international standards. Significant regional variations may indicate over- or underservicing in certain regions. Further investigation of causes for the high TTI rate and regional variations is recommended. Education of healthcare professionals on recognised indications for TTI may improve patient selection. <![CDATA[<b>Comparative analysis of healthcare provision to individuals with cleft lip and/or palate at specialised academic centres in South Africa</b>]]> http://www.scielo.org.za/scielo.php?script=sci_arttext&pid=S0256-95742019000600014&lng=en&nrm=iso&tlng=en BACKGROUND. Cleft lip and/or palate (CLP) is the most common congenital anomaly of the craniofacial complex, with an estimated worldwide prevalence of 1/500 - 700 live births. Affected children require immediate medical treatment and prolonged management by a multidisciplinary team of health professionals. OBJECTIVES. To describe and compare healthcare provision to individuals with CLP at specialised care centres in South Africa (SA). METHODS. The study was conducted at all CLP care centres in 6 of SA's 9 provinces that provide specialised treatment and care to individuals with CLP. At each centre, the team leader was interviewed using a semi-structured questionnaire that focused on the point-of-care entry for CLP patients; type of services provided; whether treatment protocols were used, which treatment protocols were used and internal referral systems; and members of the healthcare team. Stata 13 (StataCorp., USA) was used to analyse the data. RESULTS. Eleven CLP team leaders participated in the study, of whom 5 were from Gauteng Province. The point-of-care for CLP patients in the majority of centres was plastic surgery (n=9/11; 81.8%). The majority of centres (n=10/11; 90.9%) followed similar treatment protocols and only 1 centre performed lip surgery at 12 - 18 months. Although all centres reported a multidisciplinary team approach for CLP care provision, there were gaps in the health professions categories, which influenced the type of treatment provided. Hence, surgical repair of the lip and palate (n=10/11; 90.9%) and speech therapy (n=7/11; 63.6%) dominated the type of treatment provided, and patients were referred to other provinces or to the private health sector for other types of treatment. CONCLUSIONS. The gaps in services at the CLP care centres in SA need to be addressed to ensure integrated, holistic care provision. <![CDATA[<b>Challenges for dedicated smoking cessation services in developing countries</b>]]> http://www.scielo.org.za/scielo.php?script=sci_arttext&pid=S0256-95742019000600015&lng=en&nrm=iso&tlng=en BACKGROUND. South Africa, ranked as the world's second most stressful country to live in, has an estimated 7 million smokers. A dedicated smoking cessation clinic established at Groote Schuur Hospital, Cape Town, provides the only clinical service and training centre in the country. Objectives. To evaluate the smokers attending the clinic, in order to better understand the requirements of smoking cessation services in resource-limited settings. METHODS. Demographic and smoking-related data were collected prospectively from all clinic attendees since its inception. Nicotine dependence, depression scores and exhaled carbon monoxide levels were formally evaluated. Consent was provided to review the data collected. RESULTS. Ninety-seven smokers were evaluated. Their mean (standard deviation) age was 50.9 (10.7) years, and 59% (57/97) were male. The median age of smoking initiation was 16 years (interquartile range (IQR) 8 - 28), with a current median daily consumption of 12 cigarettes (IQR 7 - 20). Overall, men smoked more than women, with a median of 20 cigarettes per day (IQR 10 - 20) v. 12 (IQR 5 - 20), respectively (p=0.001). The median Fagerstrom nicotine dependence score was 5 (IQR 3 - 7), with scores of 6 (IQR 4 - 8) for men and 5 (2 - 7) for women (p=0.06); 50% of smokers had a Fagerstrom score <6 (low to above-average dependence) and 22% a score &gt;8 (extreme dependence). The median Patient Health Questionnnaire-9 (PHQ-9) depression score was 8 (IQR 4 - 11), and 49% of smokers had symptoms of at least minor depression (score &gt;10). The clinic could not provide pharmacotherapy. The self-reported quit rate was 28% at median follow-up of 22 months (IQR 14 - 39). CONCLUSIONS. In smokers attempting to quit, moderate levels of nicotine dependence coexist with significant depression and anxiety symptoms. These data inform resource allocation and public health strategies, suggesting that in resource-limited smoking cessation services, psychological/behavioural support focusing on depressive symptoms may be a greater priority than simple pharmacotherapy. <![CDATA[<b>The incidence and characteristics of homicides in elderly compared with non-elderly age groups in Johannesburg, South Africa</b>]]> http://www.scielo.org.za/scielo.php?script=sci_arttext&pid=S0256-95742019000600016&lng=en&nrm=iso&tlng=en BACKGROUND. Even though the rate of eldercide (homicide in the age group &gt;60 years) in South Africa (SA) is higher than the global rate, it receives little attention compared with homicide in younger (<60 years) age groups. OBJECTIVES: To (i) establish the proportion and rates of eldercide relative to homicide in young adult and middle-aged populations, and determine whether proportions of homicide across the age groups differ by race; and (ii) determine differences in homicide victim and incident characteristics across the three age categories and establish whether these differences vary by race METHODS. This retrospective study analysed homicide data for adults (aged &gt;15 years) drawn from the National Injury Mortality Surveillance System (NIMSS) for the City of Johannesburg, SA (2001 - 2010). Percentages and rates were used to describe the incidence of eldercide (age &gt;60 years) relative to homicide in middle age (35 - 59 years) and youth (15 - 34 years). Eldercide and middle-age and youth homicides were compared by sex, race, weapon used, scene of injury, day of the week and time of death. RESULTS. For the 10-year period 2001 - 2010, NIMSS registered a total of 14 678 adult homicide deaths for Johannesburg. Of these, a very small proportion (3.8%) were eldercides, 46.9% were middle-age homicides, and the majority (58.4%) were young adult homicides. The average annual eldercide rate (23.1/100 000) was also lower than the rate for the middle-aged (46.9/100 000) and young adult (58.4/100 000) groups. However, the difference in rates between the age groups decreased considerably over the study period. Race-specific patterns were observed in the distribution of homicide across age groups. Compared with the circumstantial patterns for youth and middle-age homicides, eldercide involved higher proportions of females and white victims, and greater use of blunt force and strangulation. Whereas homicides in the other age groups tended to occur in public spaces and during weekends and nights, eldercides occurred mainly in a home, during the week and during daytime. CONCLUSIONS. The characteristics of eldercide differ from those of youth and middle-age homicides. The specificities of the circumstances suggest that interventions should take cognisance of the temporal and spatial dimensions of eldercide and go beyond the regular security and policing measures to ensure the safety of the elderly in Johannesburg. <![CDATA['Validation of a brief mental health screening tool for common mental disorders in primary healthcare'<b></b>]]> http://www.scielo.org.za/scielo.php?script=sci_arttext&pid=S0256-95742019000600017&lng=en&nrm=iso&tlng=en BACKGROUND. Even though the rate of eldercide (homicide in the age group &gt;60 years) in South Africa (SA) is higher than the global rate, it receives little attention compared with homicide in younger (<60 years) age groups. OBJECTIVES: To (i) establish the proportion and rates of eldercide relative to homicide in young adult and middle-aged populations, and determine whether proportions of homicide across the age groups differ by race; and (ii) determine differences in homicide victim and incident characteristics across the three age categories and establish whether these differences vary by race METHODS. This retrospective study analysed homicide data for adults (aged &gt;15 years) drawn from the National Injury Mortality Surveillance System (NIMSS) for the City of Johannesburg, SA (2001 - 2010). Percentages and rates were used to describe the incidence of eldercide (age &gt;60 years) relative to homicide in middle age (35 - 59 years) and youth (15 - 34 years). Eldercide and middle-age and youth homicides were compared by sex, race, weapon used, scene of injury, day of the week and time of death. RESULTS. For the 10-year period 2001 - 2010, NIMSS registered a total of 14 678 adult homicide deaths for Johannesburg. Of these, a very small proportion (3.8%) were eldercides, 46.9% were middle-age homicides, and the majority (58.4%) were young adult homicides. The average annual eldercide rate (23.1/100 000) was also lower than the rate for the middle-aged (46.9/100 000) and young adult (58.4/100 000) groups. However, the difference in rates between the age groups decreased considerably over the study period. Race-specific patterns were observed in the distribution of homicide across age groups. Compared with the circumstantial patterns for youth and middle-age homicides, eldercide involved higher proportions of females and white victims, and greater use of blunt force and strangulation. Whereas homicides in the other age groups tended to occur in public spaces and during weekends and nights, eldercides occurred mainly in a home, during the week and during daytime. CONCLUSIONS. The characteristics of eldercide differ from those of youth and middle-age homicides. The specificities of the circumstances suggest that interventions should take cognisance of the temporal and spatial dimensions of eldercide and go beyond the regular security and policing measures to ensure the safety of the elderly in Johannesburg.