South African Medical Journal - Supplement 1, June 2016
Volumes & issues
Supplement 1, June 2016
Source: South African Medical Journal 106 (2016)More Less
Prof. Peter Beighton was born in England in 1934 and qualified in medicine at St. Mary's Hospital, University of London in 1957. After a series of internships, he completed his National Service as a Captain in the Royal Army Medical Corps, then as a Medical Officer in the Parachute Regiment and with the United Nations forces during the Congo crisis. In 1962, he began his training in internal medicine at St. Thomas' Hospital, London and from 1968 to 1969 he held a research fellowship in clinical genetics at the Johns Hopkins Hospital, Baltimore, USA. He subsequently undertook investigations in the Sahara desert and epidemiologic studies on Easter Island and in Southern Africa.
Source: South African Medical Journal 106, pp 4 –6 (2016)More Less
In 2014, four of Emeritus Prof. Peter (fondly known as PB) Beighton's past PhD students decided that they would like to honour him for his leadership and the influence that he had on their professional lives, and collaborated on a project to compile a Festschrift in his honour. They are Prof. Michael Hayden, now living in Canada, the first PhD graduate that PB supervised in 1979, together with Profs Jacquie Greenberg from the University of Cape Town (UCT), Alan Bryer from UCT and Groote Schuur Hospital (GSH), and Lawrence Stephen from the University of the Western Cape (UWC). Prof. Lawrence Stephen was the last PhD graduate that Prof. Beighton supervised before he officially retired in 1999.
Source: South African Medical Journal 106, pp 7 –9 (2016) http://dx.doi.org/http://dx.doi.org/10.7196/SAMJ.2016.v106i6.11022More Less
I still remember very vividly the first lecture that I ever heard from Prof. Peter Beighton. This was shortly after he arrived in Cape Town in 1972. Were it not for Peter, I do not think that I would ever have entered the field of human genetics. With his enthusiasm and brilliant presentation, and the capability of evoking excitement and dreams, Peter Beighton inspired me. Shortly after I had heard that lecture, I presented myself at the Department of Human Genetics, which was newly established and the first in Africa. I asked him whether I could participate in any research projects. I was particularly drawn to his research projects, as it appeared that they opened up new possibilities for understanding biology in different populations, which might have relevance for the general population. Peter's stories of his hiking through the Sahara Desert with the Tuareg, and his stories from different populations in Africa, inspired me and elucidated for me for the first time the power of studying rare families and their ability to inform general rules of biology.
Source: South African Medical Journal 106, pp 9 –12 (2016) http://dx.doi.org/http://dx.doi.org/10.7196/SAMJ.2016.v106i6.11023More Less
The academic life can be very rewarding. It has many stages, and over the years, experience and wisdom are gained. Because of increasing life expectancy, new opportunities present themselves to senior academicians, therefore giving thought and preparation to becoming an academic elder is needed. There can be life after retirement!
Prof. Peter Beighton and I are of the same generation - the 'Traditional Generation' (not Boomers, or Generation X, Y or Z). We shared an office during our Fellowship in the mid-1960s at Johns Hopkins Hospital, Baltimore, USA, with Victor McKusick. Consequently, I am delighted to contribute to Peter's festschrift and to reflect back over some of the things we might have learned in the last 50 years. So much has changed!
A pillar of academic and research excellence : the enduring influence of mentorship in science : legacySource: South African Medical Journal 106, pp 12 –13 (2016) http://dx.doi.org/http://dx.doi.org/10.7196/SAMJ.2016.v106i6.11024More Less
Regardless of one's focus in science, instilled intellectual honesty and rigour are the fruits of proper mentoring. The importance of intellectual rigour through one's period of training - by example - cannot be overstated. Proper mentoring includes not only the ethically correct application of learned skills, but, at least as importantly, collegiality through respectful and honourable conduct, and of friendship through a shared set of values and interests aligned with the pursuit of intellectual honesty.
Source: South African Medical Journal 106, pp 13 –18 (2016) http://dx.doi.org/http://dx.doi.org/10.7196/SAMJ.2016.v106i6.11025More Less
When Peter Beighton (PB) took up a fellowship at the Johns Hopkins University Hospital in 1968-1969, with Dr Victor McKusick, the 4th edition of Heritable Disorders of Connective Tissue was in preparation. PB had already concluded that Ehlers-Danlos syndrome (EDS) was a group of disorders with distinct but overlapping phenotypes and genotypes. McKusick extensively acknowledged the contribution which PB had made to delineating the heterogeneity in EDSs in Chapter 6. In Chapter 7 of the same volume, McKusick reviewed the knowledge about osteogenesis imperfecta (OI) and noted that 'the exceptionally wide range of expressivity in OI may be but different expressions of a single type of connective tissue disorder, inherited as a Mendelian autosomal dominant disorder. However, the existence of an infrequent autosomal recessive form ... is quite certain'.
From Africa and India to Blackpool : military history and ambulance services : the man behind the FestschriftSource: South African Medical Journal 106, pp 19 –20 (2016) http://dx.doi.org/http://dx.doi.org/10.7196/SAMJ.2016.v106i6.10983More Less
Peter came to South Africa not long after his marriage to Greta in 1970. They moved into an apartment, which seemed 'palatial' to them, and in which - as newcomers both to the country and to domesticity - they spent much time.
In the evenings, Peter occupied himself with Greta's childhood collection of postage stamps, enjoying the links between these simple pieces of paper and the worlds of geography and history.
Author J. DuffinSource: South African Medical Journal 106, pp 21 –22 (2016) http://dx.doi.org/http://dx.doi.org/10.7196/SAMJ.2016.v106i6.10984More Less
In 1964, during his postgraduate training in Internal Medicine in London, Peter Beighton spotted an announcement on the St. Mary's Hospital notice board. Dr Stanley C Skoryna of McGill University in Montreal was seeking medical personnel to join an international team of scientists bound for Easter Island; experience in tropical medicine would be an asset. This challenge appealed to Beighton, who had recently returned from military service as a medical officer with the United Nations in the Congo. He had the experience, the desire to see more of the world, and was curious about research; he saw no reason to hesitate.
Author M.W. HoldgateSource: South African Medical Journal 106, pp 23 –26 (2016) http://dx.doi.org/http://dx.doi.org/10.7196/SAMJ.2016.v106i6.10985More Less
Over 60 years ago, Peter Beighton and I both attended Arnold School, in the Lancashire town of Blackpool - a place, according to a music hall recital, 'famous for fresh air and fun'! From there our professional careers have taken us to many fascinating places, including the remotest inhabited island in the world - Tristan da Cunha, in mid-South Atlantic. I was there in 1955 - 1956, as Senior Scientist and Joint Leader of the Gough Island Scientific Survey; Peter has told me that my book about that expedition stimulated his interest and was one factor that drew him to undertake medical studies there in the 1970s. He has also visited and worked on Easter Island and St Helena. So it seems appropriate for me to contribute an essay on a place that has been professionally important to both of us.
Source: South African Medical Journal 106, pp 27 –28 (2016)More Less
Frank T Horan : Late Editor and Emeritus Editor of the British Volume of the Journal of Bone and Joint Surgery
David N Hall : Retired Colonel, Royal Engineers
Steve Mannion : Consultant Orthopaedic Surgeon, Blackpool Victoria Hospital and Royal Preston Hospital; and Head of the Department of Conflict and Catastrophe Medicine, St George's Hospital, University of London, UK
Donald Basel : Associate Professor/Interim Chief, Division of Genetics, Department of Pediatrics, Medical College of Wisconsin, Milwaukee, Wisconsin, USA
Source: South African Medical Journal 106, pp 29 –32 (2016) http://dx.doi.org/http://dx.doi.org/10.7196/SAMJ.2016.v106i6.10987More Less
This article is a brief record of the cytogenetics laboratory from its birth in 1971, under the auspices of the University of Cape Town, throughout its development within the Department of Human Genetics, under the leadership of Professor Peter Beighton, to its present position at Groote Schuur Hospital, as a multidisciplinary unit run by the National Health Laboratory Service.
Inherited retinal disorders in South Africa and the clinical impact of evolving technologies : how human genetics came to SASource: South African Medical Journal 106, pp 33 –37 (2016) http://dx.doi.org/http://dx.doi.org/10.7196/SAMJ.2016.v106i6.10988More Less
Retinal degenerative disorders (RDDs) encompass a group of inherited diseases characterised by vision loss. The genetic and clinical complexity poses a challenge in unravelling the molecular genetic aetiology of this group of disorders. Furthermore, the population diversity in South Africa (SA) presents researchers with a particularly complicated task. Rapid advances in the development of cutting-edge technological platforms over the past two decades, however, have assisted in overcoming some of the challenges. The RDD research team has utilised these escalating technologies, which has facilitated a corresponding increase in molecular diagnoses. A biorepository has been established and comprises ~3 200 patient DNA samples archived with many forms of RDD (including retinitis pigmentosa, macular dystrophies, Stargardt disease, Leber congenital amaurosis, Usher syndrome and Bardet Biedl syndrome). A comprehensive review is presented of the SA journey spanning 25 years, into elucidating the molecular genetic basis of various forms of RDD in SA.
The hereditary ataxias : where are we now? Four decades of local research : how human genetics came to SASource: South African Medical Journal 106, pp 38 –41 (2016) http://dx.doi.org/http://dx.doi.org/10.7196/SAMJ.2016.v106i6.10989More Less
The hereditary ataxias have been studied at the University of Cape Town for more than 40 years, following from initial clinical investigations by Beighton and colleagues in the early 1970s. This group of inherited disorders is characterised by progressive neurodegeneration and associated symptoms, including the inability to coordinate movement. Following initial local and international linkage studies, and the discovery of the genes responsible for the key dominant and recessive inherited ataxias in the 1990s, a local molecular testing service was established at Groote Schuur Hospital. More than 1 600 individuals have been referred through this testing service (now offered by the National Health Laboratory Service), leading to the molecular diagnosis of 253 families with spinocerebellar ataxia types 1, 2, 3, 6 or 7, and 30 families with Friedreich's ataxia. This is likely to be an under-representation of the number of South Africans affected with hereditary ataxia, and future research efforts will focus on increasing the awareness of this group of disorders, both locally and throughout the rest of Africa. Next-generation technologies will be beneficial in identifying additional genes underlying inherited ataxia in indigenous patients to enable more appropriate management and treatment of individuals with molecularly undiagnosed forms of the disease.
Source: South African Medical Journal 106, pp 42 –44 (2016) http://dx.doi.org/http://dx.doi.org/10.7196/SAMJ.2016.v106i6.10990More Less
Traditional scoring systems for the assessment of joint flexibility are reviewed and reasons for variation in joint laxity are defined. The value of controlled joint laxity in the hands and arms of musicians is then discussed as well as the desirability of adjusting laxity at the various joints used in the different styles of dance, some of them ethnic, that depend on the specific articular characteristics of each different dancer.
Source: South African Medical Journal 106, pp 45 –46 (2016) http://dx.doi.org/http://dx.doi.org/10.7196/SAMJ.2016.v106i6.10991More Less
The Ehlers-Danlos syndromes (EDSs) were originally described by Ehlers in Denmark and Danlos in Paris in 1898 and 1908, respectively. They had both published individual case studies in which the common factor was laxity of ligaments leading to joint hypermobility and hyperextensibility of the skin. The choice of the name of this eponymous disease had been made by Dr Parkes Weber, an eminent London physician in the 1930s, who had a penchant for eponymous diseases, having had no less than seven attributed to himself, at least in part. Unfortunately, this was before the age of a computerised literature search, and Parkes Weber had inadvertently overlooked the very first description of EDS which had been made by Tchernabogov, a Russian dermatologist, whose description was published in 1891 and remains one of the best descriptions of EDS in the literature.
Pamidronate treatment for osteogenesis imperfecta in black South Africans : how human genetics came to SASource: South African Medical Journal 106, pp 47 –49 (2016) http://dx.doi.org/http://dx.doi.org/10.7196/SAMJ.2016.v106i6.10992More Less
Background. Osteogenesis imperfecta is a heritable disorder of bone connective tissue. Type III has a high incidence in the black population of South Africa. Affected people experience numerous fractures, bone pain and progressive disability. Until the introduction of bisphosphonates to reduce fracture incidence, treatment revolved around orthopaedic and supportive care.
Objective. To assess the subjective attitude of patients towards pamidronate treatment.
Methods. Thirty black patients with osteogenesis imperfecta type III treated at Universitas Hospital were approached and 26 were included in this study. Patients or their parents were interviewed using a standardised researcher-administered questionnaire, either in person or by telephone.
Results. Most patients reported a reduction in symptoms, a feeling of increased wellbeing, increased strength and rated the pamidronate treatment highly. The intravenous route of administration and the side-effects experienced were bearable. Overall all patients would recommend this treatment to other affected persons.
Conclusion. This is first study to look at bisphosphonate treatment for osteogenesis imperfecta type III in black South Africans. The treatment is well tolerated and highly rated by the patients. Reported improvements and side-effects are similar to those reported in other populations. Using this form of treatment in this population is supported by these findings.
Source: South African Medical Journal 106, pp 50 –53 (2016) http://dx.doi.org/http://dx.doi.org/10.7196/SAMJ.2016.v106i6.10993More Less
Thanatophoric dysplasia is a well-known cause of potentially lethal short-limbed dwarfism in the newborn. The diagnosis is usually made by the recognition of characteristic radiological changes and confirmed at autopsy by demonstration of specific morphological and histological changes in the brain. This review is based upon the author's personal experience and archived data of 19 cases and concerns the clinical and radiographic manifestations, autopsy findings, molecular pathogenesis and the approach to antenatal diagnosis.
Spondyloepimetaphyseal dysplasia with joint laxity (Beighton type) : a unique South African disorder : how human genetics came to SAAuthor E.M. HoneySource: South African Medical Journal 106, pp 54 –56 (2016) http://dx.doi.org/http://dx.doi.org/10.7196/SAMJ.2016.v106i6.10994More Less
Spondyloepimetaphyseal dysplasia with joint laxity (SEMD-JL) is an autosomal recessive skeletal dysplasia in which stunted stature, articular hypermobility and spinal malalignment are the major manifestations. Structural cardiac abnormalities are sometimes present. Approximately 30 affected children have been recognised previously in the Afrikaans-speaking community in South Africa, and in several, mutations in the B3GALT6 gene have been incriminated. In this article, case details of three additional affected children in two families are documented, and four additional families are mentioned. The Pierre-Robin sequence and unilateral renal agenesis are previously unreported concomitants. The mutational status where known is recorded.
The rise of developmental genetics - a historical account of the fusion of embryology and cell biology with human genetics and the emergence of the Stem Cell Initiative : how human genetics came to SASource: South African Medical Journal 106, pp 57 –58 (2016) http://dx.doi.org/http://dx.doi.org/10.7196/SAMJ.2016.v106i6.10995More Less
Genetics and cell biology are very prominent areas of biological research with rapid advances being driven by a flood of theoretical, technological and informational knowledge. Big biology and small biology continue to feed off each other. In this paper, we provide a brief overview of the productive interactions that have taken place between human geneticists and cell biologists at UCT, and credit is given to the enabling environment created led by Prof. Peter Beighton. The growth of new disciplines and disciplinary mergers that have swept away division of the past to make new exciting syntheses are discussed. We show how our joint research has benefitted from worldwide advances in developmental genetics, cloning and stem cell technologies, genomics, bioinformatics and imaging. We conclude by describing the role of the UCT Stem Cell Initiative and show how we are using induced pluripotent cells to carry out disease-in-the-dish studies on retinal degeneration and fibrosis.
Source: South African Medical Journal 106, pp 59 –64 (2016)More Less
Sean L Sellars : Emeritus Professor of Otolaryngology, University of Cape Town, South Africa
Herman Hamersma : Otology and Neurotology, Private Practice, Flora Clinic, Roodepoort, Gauteng, South Africa (formerly Professor of Ear, Nose and Throat, University of Pretoria, South Africa)
Kazimierz Kozlowski : Emeritus and Senior Staff Radiologist, The Children's Hospital at Westmead, Sydney, Australia
Ingrid Winship : Executive Director for Research, Melbourne Health; and Professor of Adult Clinical Genetics, University of Melbourne, Australia
Claudette Medefindt : Head of Science, Retina South Africa, Johannesburg, South Africa and Deputy President, Retina International
Sol Zieff : Specialist Paediatrician, Christiaan Barnard Memorial Hospital, Cape Town, South Africa (formerly Senior Paediatrician, Red Cross War Memorial Children's Hospital, Cape Town, South Africa)
Peter Bonafede : Medical Director, Providence Arthritis Center, Portland, Oregon, USA
George Gericke : Clinical Head: Genetics Unit, AMPATH National Pathology Group, Centurion, South Africa
Denis L Viljoen : Chairman for The Foundation for Alcohol-Related Research and Extraordinary Professor, Department of Obstetrics and Gynaecology, Faculty of Health Sciences, Stellenbosch University, South Africa