South African Medical Journal - Volume 106, Issue 3, 2016
Volumes & issues
Volume 106, Issue 3, 2016
Author Janet SeggieSource: South African Medical Journal 106, pp 223 –224 (2016) http://dx.doi.org/10.7196/SAMJ.2016.v106i3.10579More Less
'... violence against women and girls continues unabated in every continent, country and culture. It takes a devastating toll on women's lives, on their families, and on society as a whole. Most societies prohibit such violence - yet the reality is that too often, it is covered up or tacitly condoned ... Changing this requires all of us - women and men - to work for enduring change in values and attitudes.' (Ban Ki-moon, Secretary-General of the United Nations, New York, 6 March 2007) In the 1980s I read a book by Prabhat Rainjan Sarkar, a social philosopher and political revolutionary. Sarkar proposed a socioeconomic Law of Social Cycles, according to which classes within societies naturally change in a sequential manner. Sarkar's view was that when one class gained dominance, there was a need to avoid the exploitation of the others.
Source: South African Medical Journal 106, pp 225 –226 (2016) http://dx.doi.org/10.7196/SAMJ.2016.v106i3.10615More Less
Cardiovascular disease (CVD) accounts for approximately 30% of deaths worldwide, with 80% of this burden in developing countries. The epidemiological transition occurring in sub-Saharan Africa has had the consequence of economic and social transformation, resulting in dramatic shifts in disease spectrum from communicable diseases and malnutrition to CVD and cancer. South Africa (SA) is faced with the challenge of four colliding epidemics: (i) poor child and maternal health; (ii) high rates of interpersonal violence; (iii) infectious diseases, including HIV/AIDS and tuberculosis; and (iv) non-communicable diseases, including CVD. This outstanding series of articles spread across three issues of SAMJ/CME represents the collaborative effort of primary health/family physicians and cardiologists from around the country. The authors have synthesised and presented the most current, evidence-based and practical approaches to management of common CVDs. This final issue provides an evidence-based and pragmatic approach to acute coronary syndromes and chest pain, and suspected tachyarrhythmias in the emergency room.
Author Kirsten RoweSource: South African Medical Journal 106, pp 227 –228 (2016) http://dx.doi.org/10.7196/SAMJ.2016.v106i3.9933More Less
To the Editor: Intentional self-harm accounted for 1.3% of non-natural deaths and 0.1% of all-cause mortality in South Africa (SA) in 2013. Fatal suicidal behaviour only represents a portion of the problem. The burden of non-fatal suicidal behaviour on our public health system is significant. Of particular concern is the downward trend in age of those affected, with an exponential increase in suicidal behaviour being seen among the younger generation. Overdoses account for 90% of non-fatal suicidal behavioural events among young people in SA.
Source: South African Medical Journal 106 (2016) http://dx.doi.org/10.7196/SAMJ.2016.v106i3.9857More Less
To the Editor: There are at least half a dozen barbers on the main streets or 'high roads' of suburbs such as Lenasia Ext. 1, Fordsburg and Mayfair in Johannesburg, South Africa. These are run by people of Pakistani, Indian and Bangladeshi origin. We have seen a proliferation of these businesses over the last few years; they provide men's haircuts for a cheap price of between ZAR25 and ZAR30.
Author Chris BatemanSource: South African Medical Journal 106, pp 229 –231 (2016) http://dx.doi.org/10.7196/SAMJ.2016.v106i3.10681More Less
A former Limpopo physiotherapist- turned Professor in Rehabilitation Sciences at the University of Oklahomahas coinvented a mobile device that 'teaches' disabled infants how to crawl, miraculously transforming their cognition, early mobility and life prospects. Prof. Thubi A Kolobe conceived the idea behind the self-initiated prone-powered crawler (SIPPC), a skate-like device that miraculously enhances the physical abilities of infants, particularly those with cerebral palsy (CP). Many of these children would otherwise never acquire the basic motor skills so fundamental to all future potential learning. The ground-breaking device was displayed at the Smithsonian Innovation Festival at the National Museum of American History in Washington, DC, in September last year, where Kolobe was honoured for her creative thinking. The device teaches infants born with disabilities not just to crawl, but to experience and enjoy independent movement.
Source: South African Medical Journal 106, pp 232 –233 (2016) http://dx.doi.org/10.7196/SAMJ.2016.v106i3.10615More Less
Zika virus (ZIKV) was originally isolated from a sentinel rhesus monkey in the Zika forest in Uganda in 1947. Twenty-one years later the virus was isolated for the first time from naturally infected humans in Nigeria. ZIKV belongs to the genus Flavivirus, family Flaviviridae, comprising enveloped viruses with RNA genomes, mostly arthropod borne. For decades ZIKV remained relatively unknown, affecting mainly monkeys and occasionally causing a mild disease in humans residing across a narrow equatorial belt in Africa and Asia. The virus is transmitted to humans by daytime active Aedes aegypti mosquitoes and usually causes a self-limiting, non-fatal febrile infection characterised by a maculopapular rash, arthralgia, conjunctivitis, myalgia and headache.
Could we offer mitochondrial donation or similar assisted reproductive technology to South African patients with mitochondrial DNA disease? : editorialSource: South African Medical Journal 106, pp 234 –236 (2016) http://dx.doi.org/10.7196/SAMJ.2016.v106i3.10170More Less
Mitochondrial disease comprises a highly heterogeneous group of disorders in which mitochondrial function is impaired as a result of mutations located either in mitochondrial DNA (mtDNA) itself or in a large number of nuclear genes involved in mitochondrial function. In 2015 the House of Commons in the UK voted to endorse the use of pioneering in vitro fertilisation (IVF) techniques to protect future generations from the risk of mtDNA disease by the use of mitochondrial donation.
Cardiovascular medicine in primary healthcare in sub-Saharan Africa : minimum standards for practice (part 3) : guest editorialSource: South African Medical Journal 106, pp 237 –238 (2016) http://dx.doi.org/10.7196/SAMJ.2016.v106i3.10593More Less
Cardiovascular disease (CVD) is the leading cause of death worldwide. Approximately 80% of all cardiovascular-related deaths occur in low- to middle income countries and at a younger age compared with high-income countries. The economic burden imposed by CVD on developing countries in terms of loss of productive years of life and amount of fiscal resources spent on secondary and tertiary care is considerably high. A sizeable proportion of the population-attributable risk for myocardial infarction is accounted for by nine modifiable risk factors, regardless of the geographical region. Heart failure is an important cause of morbidity and mortality in sub-Saharan Africa (SSA) and the spectrum of aetiology in this region is different from that in many high-income countries.
Source: South African Medical Journal 106, pp 239 –245 (2016) http://dx.doi.org/10.7196/SAMJ.2016.v106i3.10323More Less
Patient history, physical examination, 12-lead electrocardiogram (ECG) and cardiac biomarkers are key components of an effective chest pain assessment. The first priority is excluding serious chest pain syndromes, namely acute coronary syndromes (ACSs), aortic dissection, pulmonaryembolism, cardiac tamponade and tension pneumothorax. On history, the mnemonic SOCRATES (Site Onset Character Radiation Association Time Exacerbating/relieving factor and Severity) helps differentiate cardiac from non-cardiac pain. On examination, evaluation of vital signs, evidence of murmurs, rubs, heart failure, tension pneumothoraces and chest infections are important. A 12-lead ECG should be interpreted within 10 minutes of first medical contact, specifically to identify ST elevation myocardial infarction (STEMI). High-sensitivity troponins improve the rapid rule-out of myocardial infarction (MI) and confirmation of non-ST elevation MI (NSTEMI). ACS (STEMI and NSTEMI/unstable angina pectoris (UAP)) result from acute destabilisation of coronary atheroma with resultant complete (STEMI) or subtotal (NSTEMI/UAP) thrombotic coronary occlusion. The management of STEMI patients includes providing urgent reperfusion: primary percutaneous coronary intervention (PPCI) if available, deliverable within 60 - 120 minutes, and fibrinolysis if PPCI is not available. Essential adjunctive therapies include antiplatelet therapy (aspirin, P2Y12 inhibitors), anticoagulation (heparin or low-molecular-weight heparin) and cardiac monitoring.
Source: South African Medical Journal 106, pp 246 –250 (2016) http://dx.doi.org/10.7196/SAMJ.2016.v106i3.10322More Less
Patients present to the emergency department with either an ongoing tachycardia or a history suspicious of a tachycardia. Either way, the tachycardia needs to be documented, preferably on a 12-lead electrocardiogram (ECG) for diagnosis and management. If a tachycardia is not documented, a careful history of the palpitations should be taken to see if further monitoring and investigations are required. If a tachycardia is confirmed on an ECG, the clinician needs to classify it according to two variables: (i) regularity of the rhythm; and (ii) QRS width. This will allow a differential diagnosis to be made.
Drug alert - recommendations pertaining to the use of influenza vaccines and influenza antiviral drugs, 2016 : in practiceSource: South African Medical Journal 106, pp 251 –253 (2016) http://dx.doi.org/10.7196/SAMJ.2016.v106i3.10586More Less
Vaccination is the most effective strategy to prevent influenza. It is recommended that influenza vaccine be administered each year before the influenza season, i.e. from March to June, although for individuals at increased risk of severe influenza in whom vaccination was missed, vaccine may be administered later. For a review of the 2015 influenza season and ongoing real-time updates of the 2016 influenza season when it starts, refer to the website of the National Institute for Communicable Diseases of the National Health Laboratory Service (www.nicd.ac.za). In this article we provide recommendations for the use of influenza vaccines in anticipation of the 2016 southern hemisphere influenza season. Guidance is based on available evidence to assist clinicians in making decisions regarding influenza vaccination. It should be noted that this article includes general recommendations for vaccination with influenza vaccines available in South Africa and may differ from groups targeted in specific vaccination programmes, e.g. the National Department of Health Programme.
Source: South African Medical Journal 106, pp 253 –255 (2016) http://dx.doi.org/10.7196/SAMJ.2016.v106i3.10134More Less
Dominantly inherited digitotalar dysmorphism (DTD), which is characterised by flexion contractures of digits and 'rocker-bottom' feet due to a vertical talus, was first described in a South African family of European stock in 1972. We review the clinical manifestations and document the molecular basis for DTD in this prototype family. This family was restudied in 1995 and 2006 and biological specimens were obtained for molecular studies. Since the distal arthrogryposes (DAs) are genetically heterogeneous, an unbiased approach to mutation identification was undertaken through whole-exome next-generation sequencing of DNA from a single DTD-affected female. Venous blood specimens were obtained for DNA banking and subsequent molecular studies. Analysis of the nine genes that had previously been shown to cause DAs revealed a pathogenic mutation in exon nine of TNNT3. The presence of the p. (Arg63His) missense mutation at position 63 of TNNT3 was confirmed through direct cycle sequencing of genomic DNA in six affected family members for whom DNA had been archived.
Medicine and the law - amendments to the Sexual Offences Act dealing with consensual underage sex : implications for doctors and researchers : in practiceSource: South African Medical Journal 106, pp 256 –259 (2016) http://dx.doi.org/10.7196/SAMJ.2016.v106i3.9877More Less
In terms of the Sexual Offences and Related Matters Amendment Act, consensual sex or sexual activity with children aged 12 - 15 was a crime, and as such had to be reported to the police. This was challenged in court in the Teddy Bear case, which held that it was unconstitutional and caused more harm than good. In June 2015, the Amendment Act was accepted by both the National Assembly and the National Council of Provinces, and came into operation on 3 July 2015. This article looks at the amendments to sections 15 and 16 of the Act and what the reporting obligations for medical professionals and researchers are in light of the amendments, as well as the duty to provide medical services and advice to adolescents.
Healthcare delivery - the value of internal medicine outreach in rural KwaZulu-Natal, South Africa : in practiceSource: South African Medical Journal 106, pp 259 –262 (2016) http://dx.doi.org/10.7196/SAMJ.2016.v106i3.10278More Less
Background. Sustainable multifaceted outreach is crucial when equity between specialist services available to different sections of South Africa (SA)'s population is addressed. The healthcare disadvantage for rural compared with urban populations is exemplified in KwaZulu-Natal (KZN). Outreach to rural hospitals has reduced the need for patients to undergo journeys to regional or tertiary hospitals for specialist care.
Objectives. Multifaceted outreach visits to seven district hospitals in western KZN by a specialist in the Pietermaritzburg Department of Internal Medicine were analysed for the period 2013 - 2014.
Methods. Church of Scotland, Vryheid, Dundee, Charles Johnson Memorial, Rietvlei, Estcourt and Greytown hospitals were visited. During each visit, data were collected on data collection forms, including patient numbers, gender and age, whether out- or inpatient, whether referred, and diagnostic categories.
Results. During 113 visits, of 1 377 contacts made, 631 were outpatients and 746 were inpatients. Females formed the majority overall, but for inpatients males outnumbered females. The majority of patients were aged >40 years, but over half of inpatients seen were aged ≤40 years. A modest 15% of patients seen were referred to hospitals with specialist services. Overall, cardiovascular disease, predominantly among outpatients, was the biggest diagnostic category. Infectious diseases followed, primarily among inpatients, and then general medicine. No other category reached 10%.
Conclusions. The analysis showed differences between diagnostic categories, especially when outpatients and inpatients were separated out. Referral patterns, age-distribution and gender distinctions were made. The value of a good database was confirmed. The multi-facetedoutreach may have suggested useful outcomes as well as output. The vulnerability v. sustainability of outreach programmes was emphasised.
Author Y. MoollaSource: South African Medical Journal 106 (2016) http://dx.doi.org/10.7196/SAMJ.2016.v106i3.10129More Less
Breast cancer in high-risk Afrikaner families : Is BRCA founder mutation testing sufficient? : researchSource: South African Medical Journal 106, pp 264 –267 (2016) http://dx.doi.org/10.7196/SAMJ.2016.v106i3.10285More Less
Background. Germline pathogenic mutations in cancer susceptibility genes result in inherited cancer syndromes. In the Afrikaner population of South Africa (SA), three founder mutations in the BRCA genes that lead to hereditary breast and ovarian cancer syndrome (HBOCS) have been identified.
Objectives. To investigate the uptake and type of molecular testing performed on patients for HBOCS, to determine the prevalence of the three Afrikaner founder BRCA mutations as well as non-founder BRCA mutations in the study population, and to analyse the utility of two mutation prediction models (Breast and Ovarian Analysis of Disease Incidence and Carrier Estimation Algorithm (BOADICEA) and Manchester scoring method) in assisting with the decision for the most cost-effective testing option.
Methods. A retrospective file review was performed on counsellees of self-reported Afrikaner ancestry from Johannesburg, SA (2001 -2014), with a personal or family history of breast and/or ovarian cancer. Demographic and family history information was recorded and Manchester and BOADICEA scores were calculated for each patient.
Results. Of 86 unrelated counsellees whose files were reviewed, 54 (62.8%) underwent BRCA genetic testing; 18 (33.3%) tested positive for a mutation, and 14 of these (77.8%) for an Afrikaner founder mutation. Twelve counsellees had the BRCA2 c.7934delG mutation. Four non-founder mutations were identified. BOADICEA scores were significantly higher in counsellees who tested positive for a mutation than in those who tested negative.
Conclusions. Founder mutation testing should be performed as a first-line option. BOADICEA is very useful in identifying counselleesat high risk for a BRCA mutation and also assists with the decision to pursue further testing following a negative founder mutation result. These findings assist in guiding an informed genetic counselling service for at-risk individuals with an Afrikaner background.
Knowledge regarding basic concepts of hereditary cancers, and the available genetic counselling and testing services : a survey of general practitioners in Johannesburg, South Africa : researchSource: South African Medical Journal 106, pp 268 –271 (2016) http://dx.doi.org/10.7196/SAMJ.2016.v106i3.10162More Less
Background. In families with hereditary cancer, at-risk individuals can benefit from genetic counselling and testing. General practitioners (GPs) are ideally placed to identify such families and refer them appropriately.
Objective. To assess the practices, knowledge and attitudes of GPs regarding common hereditary cancers.
Methods. An exploratory research design was used. An existing questionnaire was adapted, piloted and mailed to 196 GPs in Johannesburg, South Africa. The 61 GPs (31.1%) who completed and returned the questionnaire constituted the final sample. Data were analysed using descriptive statistics.
Results. The GPs obtained some information on cancer family history from their patients, but not enough to assess the risks. Altogether22 (36.1%) of the GPs referred patients to appropriate facilities for assessment and testing, while 32 (52.5%) were aware of genetic testing services. Most (38/61, 62.3%) were not familiar with the genetic counselling facilities available, but they felt patients should have counselling before testing. Less than half knew about possible paternal inheritance, or the low rate of hereditary mutations and their penetrance. Overall, the majority of GPs (53/61, 86.9%) were interested in learning more about cancer genetics and available services, and they expected to play an increasing role in the field in the future.
Conclusions. Many of the GPs in this study had limited knowledge about inherited cancers, cancer risk management and genetic services. Appropriate education needs to be increased so that they are better equipped to identify and refer families at risk.
A clinical and molecular investigation of two South African families with Simpson-Golabi-Behmel syndrome : researchSource: South African Medical Journal 106, pp 272 –275 (2016) http://dx.doi.org/10.7196/SAMJ.2016.v106i3.9476More Less
Background. Simpson-Golabi-Behmel syndrome (SGBS) is an X-linked recessive overgrowth syndrome manifesting primarily in boys and characterised by macrosomia, distinctive facial features and multiple congenital abnormalities. Although this rare condition is thought to be under-diagnosed, making a diagnosis is important as affected boys have a 7.5% risk of developing visceral tumours and surveillance is warranted. Mutations in GPC3 are found in up to 70% of boys affected with SGBS.
Objectives. A clinical and molecular investigation of two boys with SGBS, probands B and S, and their mothers. Documentation of the clinical phenotype could assist with diagnosis in affected boys and will lead to early initiation of tumour surveillance.
Methods. Hospital folders were reviewed and clinical consultations arranged for both probands and their mothers. Molecular investigations initially searched for whole-exon deletions in GPC3 followed by gene sequencing.
Results. The clinical phenotype of both probands was consistent with that previously reported in the literature. The main features pointing towards the diagnosis were macrosomia, coarse facial features and macroglossia with a midline groove in the tongue. Proband B developed a Wilms tumour. He was found to have a novel mutation causing a premature stop codon.
Conclusions. This research represents the first published report of SGBS in South Africa. Early recognition and confirmation of this condition is important in order to institute tumour surveillance and assist families with accurate recurrence risks.