Disorders of the skeletal system: Mucopolysaccharidoses Part 2
digital file Black & White Sound 1975 42:50
Summary: Dr D Leaback of the Institute of Orthopaedics, University of London, Dr M Dean of the Kennedy Institute of Rheumatology, Dr R Stephens and Dr P Whiteman of the Institute of Child Health, University of London discuss mucopolysaccharidoses, a disorder of the skeletal system. This is the second part of a two part programme. They discuss treatment of patients, patient management and care and prenatal diagnosis. 8 segments.
Title number: 18026
LSA ID: LSA/21183
Description: Segment 1 Opening titles. Dr Leaback briefly summarises Part 1 of the programme and says that Part 2 will deal with treatments. He introduces Dr Michael Dean, who talks about his experiments in enzyme therapy. Dr Dean explains the catabolism of mucopolysaccharides, or glychosaminoglycans as they are also called. If an enzyme is deficient then problems occur. A diagram of a portion of a heparan sulphate molecule is seen, and Dean explains how deficiencies of an enzyme in it leads to Hunter syndrome. Another type of deficiency leads to Hurler or Scheie syndrome. Time start: 00:00:00:00 Time end: 00:05:45:22 Length: 00:05:45:22 Segment 2 Dean explains that to alleviate the symptoms of mucopolysaccharidosis, partially degraded glycosaminoglycan fragments must be removed. The deficient enzyme must be supplemented. A diagram showing fibroblasts grown from normal skin is seen. These were able to correct the deficiency when grown together in vitro. Dean summarises previous attempts at enzyme replacement therapy. A table showing beneficial effects of plasma infusion therapy in a group of Sanfilippo and Hunter patients is seen. These benefits were only temporary. Dean describes some other enzyme replacement therapies, including targeting the patient's liver and implanting normal fibroblasts into the patient. Time start: 00:05:45:22 Time end: 00:11:04:07 Length: 00:05:18:10 Segment 3 Dean discusses a case where normal fibroblasts were implanted into the patient. The patient was a boy with Hunter syndrome. A diagram showing skin grafts from the boy's parents' arms to his arm is seen. Dean describes the rest of the therapy. Graphs showing the changes in excretion of uronic acid and other changes are seen. Dean explains the data in the graphs. Time start: 00:11:04:07 Time end: 00:15:15:00 Length: 00:04:10:18 Segment 4 Dean continues to discuss the case study. The deficient enzyme was looked for in the patient's urine. A graph showing the excretion of the enzyme is seen. A second patient with Hunter syndrome is given the same fibroblast treatment and observed. Graphs showing the results of the treatment are seen, and Dean explains the data. Dean then summarises the two case studies and says that he feels fibroblast implantation therapy offers some possibility for long-term replacement therapy. Time start: 00:15:15:00 Time end: 00:22:42:00 Length: 00:07:27:00 Segment 6 Dr Paul Whiteman is introduced, who discusses prenatal diagnosis. He explains what tests should be carried out on the pregnant mother's amniotic fluid, including biochemical studies and analysis of amniotic fluid glycosaminoglycans. He then discusses future developments of methods involving the demonstration of specific enzyme deficiencies in cultured amniotic fluid cells. He also explains the disadvantages associated with methods based on cell cultures. Time start: 00:26:15:13 Time end: 00:30:05:22 Length: 00:03:50:09. Segment 7 Whiteman describes microtechniques required for the isolation and analysis of glycosaminoiglycans in amniotic fluid. He describes two methods: the measurement of a portion of hyaluronidase-resistant glycosaminoglycans and the separation of individual glycosaminoglycan components by w-dimensional electrophoresis. An electrophoretogram is seen, showing typical separations of amniotic fluid glycosaminoglycans in a pregnancy affected by Hurler disease. Time start: 00:30:05:22 Time end: 00:35:00:05 Length: 00:04:54:08. Segment 8 Another electrophoretogram is seen, showing a pregnancy affected by Sanfilippo A disease. Whiteman advises that these techniques are used in conjunction with studies on cultured amniotic fluid cells. Whiteman hands back to Dr Leaback, who discusses the social, medical and scientific reasons for particular interest in this kind of disorder. He says that between 2000 and 3000 individuals are affected by mucopolysaccharidoses in Britain and talks about support for families and pregnant women. He then summarises the biochemical and metabolic aspects of the programme. He finishes the programme by saying that much remainds to be done on mucopolysaccharidosis syndromes, although a start has been made. Time start: 00:35:00:05 Time end: 00:42:50:17 Length: 00:07:50:12
Credits: Presented by Dr. D. Leaback, Institute of Orthopaedics, University of London Dr. M. Dean, Kennedy Institute of Rheumatology Dr. R. Stephens and Dr. P. Whiteman, Institute of Child Health, Birmingham. Directed by Trevor A. Scott.
Further information: This video is one of more than 120 titles, originally broadcast on Channel 7 of the ILEA closed-circuit television network, given to Wellcome Trust from the University of London Audio-Visual Centre shortly after it closed in the late 1980s. Although some of these programmes might now seem rather out-dated, they probably represent the largest and most diversified body of medical video produced in any British university at this time, and give a comprehensive and fascinating view of the state of medical and surgical research and practice in the 1970s and 1980s, thus constituting a contemporary medical-historical archive of great interest. The lectures mostly take place in a small and intimate studio setting and are often face-to-face. The lecturers use a wide variety of resources to illustrate their points, including film clips, slides, graphs, animated diagrams, charts and tables as well as 3-dimensional models and display boards with movable pieces. Some of the lecturers are telegenic while some are clearly less comfortable about being recorded all are experts in their field and show great enthusiasm to share both the latest research and the historical context of their specialist areas.
Keywords: Skeleton; Mucopolysaccharidoses; Glycosaminoglycans; Enzymes
Locations: United Kingdom; England; London; University of London