Browsing by Author "Wilmshurst, Jo M"

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    Open Access
    Development of a Duchenne Muscular Dystrophy Registry in South Africa to optimise care
    (2017) Jalloh, Alhaji Alusine; Wilmshurst, Jo M; Wessels, Tina
    Background: The most prevalent, most lethal of the inherited dystrophies is Duchenne Muscular Dystrophy (DMD) and globally, the incidence is 1 in 3500 live male births. Currently, DMD has no cure, the latest care guidelines, especially on corticosteroids, cardiac interventions, and non-invasive ventilation, are all associated with improved muscle function, survival and quality of life. This reflects the fact that the natural history of DMD has been changed by these effective measures. Despite these advances, the progression and disastrous outcome of the disease cannot be modified. Potential therapeutic approaches that target the causative genetic mutations raise hopes of promising treatment for DMD. Many clinical trials of molecular genetic therapies have been planned and conducted for DMD. In South Africa, even though mutational characteristics of South African DMD/BMD patients have been described in several studies, the development of experimental therapies faces many challenges due to the lack of epidemiological data, the natural history of the disease and information about clinical care amongst Africans. Understanding the disease course of the local population can lead to better care approaches, further with the possibility of gene therapy becoming available, patients that would qualify for such treatment need to be identified. Hence the need for a DMD specific disease registry. Objective: This study aims to describe the concept and design of the first DMD disease registry of South Africa using Research Electronic Data Capture (REDCap) Methods: A comprehensive literature review was undertaken to identify the key areas of DMD, which must be recorded to permit comparison across disease expression and intervention variables. The registry was developed using REDCap's web based online designer accessed through the Clinical Research Centre (CRC) in the Faculty of Health Sciences at the University of Cape Town, and the workflow methodology was adopted to manage the registry. Clinical data from DMD patients form the database and consists of seven parts: 1) Enrolment details, 2) Background data, 3) Current disease, 4) Schooling, career prospects, and life style/psychological details, 5) basic activity of living scale, 6) power chart, 7) current motor function/symptoms. Electronic case report forms were created from these clinical data by the use of REDCap and for specific variables serial entries were possible relating to disease progression. We adopted international data standards proposed by TREAT-NMD, a global network of registries on DMD to ensure our data is internationalised and comparable to other registries. Results: Retrospective data entry combined with dynamic prospective recording of data was utilized in this project. Building on an existing basic database, 100 confirmed DMD boys are currently eligible for inclusion into the registry. The registry database consists of 7 forms collecting information on clinical and genetic information, which is subdivided into 100 items making a total of 210 variables. As our registry is an on-going study, sequential analysis of accumulated data will be done going forward to review trends on our DMD patients. Conclusions: This work describes the concept and design of our DMD registry and the steps followed to its establishment with REDCap. The focus is to consolidate clinical and genetic information on South African DMD patients that will translate to clinical research and form the basis for this patient information to be linked nationally and internationally. It is the hope that such an effort can be replicated in the conceptualisation of new disease registries.
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    HIV Encephalopathy: pediatric case series description and insights from the clinic coalface
    (BioMed Central, 2015-01-17) Donald, Kirsten A; Walker, Kathleen G; Kilborn, Tracy; Carrara, Henri; Langerak, Nelleke G; Eley, Brian; Wilmshurst, Jo M
    Background: The Human Immune Deficiency Virus (HIV) can manifest neurologically in both adults and children. Early invasion of the central nervous system by the virus, affecting the developing brain, is believed to result in the most common primary HIV-related neurological complication, HIV Encephalopathy (HIVE). In countries such as South Africa where many children have not been initiated on antiretroviral treatment early, HIVE remains a significant clinical problem. Methods: Children were selected from a clinic for children with neurologic complications of HIV, located at the Red Cross War Memorial Children’s Hospital, South Africa 2008–2012. Eligible subjects fulfilled the following inclusion criteria: aged 6 months-13 years; positive diagnosis of HIV infection, vertically infected and HIVE as defined by CDC criteria. Each participant was prospectively assessed by a Pediatric Neurologist using a standardized proforma which collated relevant details of background, clinical and immunological status. Results: The median age of the 87 children was 64 months (interquartile range 27–95 months). All except one child were on antiretroviral treatment, 45% had commenced treatment <12 months of age. Delayed early motor milestones were reported in 80% and delayed early speech in 75% of children in whom we had the information. Twenty percent had a history of one or more seizures and 41% had a history of behavior problems. Forty-eight percent had microcephaly and 63% a spastic diplegia. CD4 percentages followed a normal distribution with mean of 30.3% (SD 8.69). Viral loads were undetectable (
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    Leaving the party - withdrawal of South African essential medicines
    (2005) Wilmshurst, Jo M; Blockman, Marc; Argent, Andrew; Gordon-Graham, Eugenie; Thomas, Jenny; Whitelaw, Andrew; McCulloch, Mignon; Ramiah, Malitha; Dyeshana, H; Ireland, Joe
    In August 2004 pharmacies and drug depots were advised that the sole supplier of parenteral phenobarbitone in South Africa, essential for the management of status epilepticus in children, was stopping production at the end of the same year. Alternative protocols for the management of status epilepticus resulted in more children requiring intensive care intervention (N = 9) at the Red Cross Children’s Hospital, over a 2-month period, than had occurred in any 12-month period since 2000 (2000 N = 3, 2001 N = 1, 2002 N = 1, 2003 N = 2, 2004 N = 7). Other agents that have suffered or are at risk of the same fate are sodium nitroprusside, labetalol and esmolol. Sodium nitroprusside is used extensively in the peri-operative period in cardiac patients requiring after-load reduction. There are no other nitrates with equivalent efficacy. Supply was stopped in 2005 and only reinstated after the pharmaceutical company was contacted directly. Supply of labetalol and esmolol was stopped without warning. Without access to these products it is necessary to resort to agents that are not appropriate for paediatric use. Acetylcysteine (Parvolex), used in the management of acetaminophen overdose, also became unavailable and the supply was re-established only after direct communication with the pharmaceutical company.
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    Sydenham's chorea - clinical and therapeutic update 320 years down the line
    (2006) Walker, Kathleen; Lawrenson, John; Wilmshurst, Jo M
    Post-streptococcal neuropsychiatric movement disorders (PNM) were first described in the Middle Ages, but today more than 300 years later, confusion remains surrounding the terminology, treatment and monitoring of these conditions. Rheumatic fever is currently the major cause of acquired heart disease among children in South Africa.1 The incidence of acute rheumatic fever (ARF) and rheumatic heart disease (RHD) is not declining. Recent figures quote the incidence of rheumatic fever as 0.6 - 0.7/1 000 population in the USA and Japan compared with 15 - 21/1 000 population in Asia and Africa.2 In a study conducted in 1975 in Soweto, South Africa, 12 050 schoolchildren were examined and 19.2/1 000 had rheumatic heart disease.3 A 2002 report from a cardiology workshop highlighted the belief among clinicians that South Africa is currently in the midst of a rheumatic fever epidemic.4,5 Sydenham’s chorea (SC) is a major manifestation of ARF. Accordingly, in the South African context when PNMs are diagnosed, treatment strategies must always include the prevention of RHD.
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    Use of phenobarbitone for treating childhood epilepsy in resource-poor countries
    (South African Medical Journal, 2005) Wilmshurst, Jo M; Van Toorn, Ronald
    Should the continued use of phenobarbitone for childhood epilepsy in resource-poor countries be considered a form of discrimination? Phenobarbitone was recommended by the World Health Organization (WHO) as the first-line agent for the control of seizures,1 but this has been contested on the grounds that it is biased against resource-poor countries.2 It was first used as an anticonvulsant in 1912, but now has little role to play in First-World countries where the newer generation agents are readily accessible. Phenobarbitone monotherapy has equivalent efficacy to the newer anticonvulsants (phenytoin, sodium valproate and carbamazepine) in children with partial-onset and generalised tonic-clonic seizures.3 Phenobarbitone is cheap, readily available, and easy to use and store. However, it has definite cognitive and behavioural side-effects in many children. It can exacerbate seizures in about 35% of children, and extreme caution should be taken with children who have a pre-morbid state of behavioural problems or attention deficit hyperactivity disorder (ADHD).