Case report of sudden death in a child with Williams syndrome following administration of anaesthesia

Williams syndrome is a neurodevelopmental disorder characterized by distinctive personality traits, facial features (so called “elfin face”) and cardiac abnormalities, of which supravalvular aortic stenosis is the most common lesion found. The cause is a deletion of a group of genes on chromosome 7q11.23. Administration of anaesthesia to these patients carries a higher risk for sudden death due to the cardiac defects. The purpose of this case study is to demonstrate the entity in the South African population, to review the literature, to put emphasis on the multi-disciplinary approach in the pre-operative management, and to review the medico-legal investigation of intra-operative deaths. Furthermore, administration of anaesthesia in the remote location and to syndromic children will also be discussed.Keywords: deletion of genes on chromosone 7q11.23, intra-operative deaths, sudden death, supravalvular aortic stenosis, Williams syndrom

Managing the Remains of Foetuses and Abandoned Infants – A Call to Urgently Review South African Law and Medico-legal Practice

This article reviews South African (SA) law and its impact on the medicolegal management of fetal remains emanating from elective and therapeutic termination of pregnancies, stillbirths and miscarriages and the remains of abandoned or exposed infants. It was found that remains are treated differently, some constituting medical waste while others have sufficient status in law to allow for burial. This approach results in some women or couples being denied a choice with regard to disposal via culturally relevant practices, and is insensitive to the fact that all remains ultimately constitute human remains. The article argues that SA law is in urgent need of reform, and turns to foreign law and forensic practice to shed light on possible alternative approaches that could assist with developing the SA position and thereby improve the practical management of fetal and infant remains in SA

Prevalence of musculoskeletal injuries among adolescent squash players in the Western Cape

Objective. To determine the prevalence of musculoskeletal injuries among adolescent squash players in the Western Cape. Design. A retrospective descriptive survey was conducted during the first week of May 2006. Three schools were randomly selected from a list of the top 10 schools in the Western Cape high school squash league of 2005, with 106 squash players aged 13 - 18 years participating in the study. Setting. Injury data were collected for 106 players at three schools randomly selected from a list of the top 10 schools in the Western Cape high school squash league of 2005. Interventions. An adapted structured self-administered questionnaire based on a previously validated musculoskeletal injury questionnaire was used to collect the data. Main outcome measures. The main variables investigated were prevalence, mechanism and injury site of musculoskeletal squash injuries. Results. Twenty-nine per cent of the players (N = 31) reported that they had sustained a squash injury in the 4 weeks prior to data collection. A total of 48 injuries were reported by the injured players. The most common injuries included those of the thigh (19%), shoulder (13%) and lower back (13%). Forty-two per cent of players reported no specific mechanism of injury, but experienced pain not associated with a traumatic injury only while playing squash. Conclusion. A relatively high prevalence of squash injuries was found. This preliminary study serves as a baseline for future research. Areas for further investigation were identified and this could lead to the implementation of preventive programmes and education to prevent injuries among adolescent squash players. South African Journal of Sports Medicine Vol. 19 (1) 2007: pp. 3-

Fatalities involving illicit drug use in Pretoria, South Africa, for the period 2003 - 2012

Background. Globally, illicit drugs are responsible for many fatalities annually, yet accurate data on the nature and extent of these deaths in South Africa (SA) are lacking.Objectives. To investigate the presence and profile of illicit drugs detected in deceased persons who were subjected to medicolegal autopsies and upon whom analyses were carried out in search of illicit drugs in their body fluids at the Pretoria Medico-Legal Laboratory (PMLL), SA, over a 10-year period.Methods. A retrospective descriptive case audit was conducted for the period 2003 - 2012.Results. Screening for illicit drugs was requested in 385 out of 22 566 medicolegal autopsies. Results were available for only 281 of these cases, with 154 cases showing the presence of one or more illicit drugs. The demographic profile of positive cases indicated the majority to be male (90.3%) and white (85.1%). Decedents who tested positive for illicit drugs were predominantly aged between 20 and 30 years (51.9%). The most frequently detected drug was heroin, the presence of which was confirmed in 35.2% of cases, followed by cocaine in 19.9%. Alcohol in combination with an illicit drug or drugs was detected in 56 cases (36.4%).Conclusions. Results from this study indicate that illicit drugs were implicated in a considerable number of fatalities in Pretoria. However, it is believed that the figures are a gross under-representation of the actual number of drug users who died during this period. It is therefore recommended that further research be conducted and that drug screening be requested routinely when unnatural deaths are investigated at medicolegal mortuaries, not only to ensure the administration of justice but also to obtain more accurate data for purposes of public health programmes and improve insight into the burden of illicit drug use in SA

The value of medical student hepatitis B immunisation as part of clinical skills training in the Clinical Skills Unit of the University of the Free State

Background: It is compulsory for medical students of the University of the Free State to be immunised against hepatitis B before they have contact with clinical patients. Previously, the students were vaccinated on campus at the student health services. With the implementation of Curriculum 2000 (the revised MBChB programme), hepatitis B immunisation, as an example of an invasive procedure, was incorporated into the medical students’ clinical skills training programme. The aim of this study was to assess the students’ perceptions regarding immunising their peers, being immunised by their peers and the educational value of this process.Methods: Medical students in Phase II of the MBChB programme were included in this observational descriptive study and participation was voluntary. Students immunised their peers with a hepatitis B vaccine in the upper arm under the supervision of medical and nursing personnel in the laboratory of the Skills Unit. After the final immunisation, the students completed an anonymous questionnaire.Results: Sixty-six students completed the questionnaire. Of these, 80% felt that that they had improved their understanding of the theory of immunisation. Some (8%) students preferred to have the immunisation performed at a clinic or by a doctor and 6% had a problem with being vaccinated by a peer. A few (3%) students found it unacceptable to be immunised in a mixed gender group, 5% thought they had suffered complications and 5% indicated that there had been inadequate supervision. Most of the students (98%) responded positively to immunising their peers and 95% felt that it was advantageous to receive the immunisation in the skills laboratory environment. Approximately half (56%) of the students wanted to receive additional important immunisations.Conclusion: Students were positive about practising immunisation techniques on their peers.SA Fam Pract 2005;47(4): 54-5

Post-Mortem Echocardiography as a Guide to Cardiac Autopsy—A Worthwhile Concept?

Sudden and unexpected death in the young is a common and worldwide problem. Sudden, unexpected death in infancy (SUDI), clinically unexpected death in an infant between one week and one year of age, affects around 1 in 1000 infants. Autopsy will reveal a specific cause of death in only one third of cases. This has led to various ancillary examinations in an effort to increase the diagnostic yield of the autopsy

Subendocardial Fibrosis in Left Ventricular Hypertrabeculation-Cause or Consequence?

Left ventricular noncompaction has been classified as a primary cardiomyopathy with a genetic origin. This condition is morphologically characterized by a thickened, two-layered myocardium with numerous prominent trabeculations and deep, intertrabecular recesses. Recently, it has become clear that these pathological characteristics extend across a continuum with left ventricular hypertrabeculation at one end of the spectrum