Disorders of the skeletal system. Mucopolysaccharidoses. Part 1.

London : University of London Audio-Visual Centre, 1975.

1 encoded moving image (39 min.) : sound, black and white.

00:39:17

University of London

In English

Presented by Dr B. Lake, Dr R. Stephens, Dr J. Sutcliffe and Dr P. Whiteman from the Institute of Child Health, University of London. Made by University of London Audio-Visual Centre. Directed by Trevor A. Scott.

This video is one of around 310 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.

Segment 1 Dr Whiteman introduces the topic, explains what mucopolysaccharidoses are and says that the lecture will discuss aspects of clinical and laboratory diagnosis as well as pathogenesis, aspects of management and possible future trends. Next, Dr Rosemary Stephens talks about the clinical manifestations of these disorders. Dr Stephens describes the symptoms and a table lists the types of disorders (Hurler's disease, Scheie's disease, Hurler/Scheie compound and Hunter's disease types A & B). Stephens explains how the diseases are inherited and talks about the cause of Hurler's disease - an enzyme deficiency. Photographs of a two-year-old boy with Hurler's disease are seen, and she points out the characteristic features. Time start: 00:00:00:00 Time end: 00:05:21:00 Length: 00:05:21:00

Segment 2 Stephens continues to talk about the physical problems related to Hurler's disease, including deafness and cardiac lesions. Next, she discusses Scheie's disease, explaining the enzyme deficiency, symptoms and physical characteristics. She also does this for Hurler-Scheie compound and Hunter's disease. Time start: 00:05:21:00 Time end: 00:09:52:00 Length: 00:04:31:00

Segment 3 Stephens continues to explain Hunter's disease, showing photographs of patients. She next explains Sanfilippo's disease (types A and B). Photographs of children with the disease are shown. She goes on to address Morquio's disease, with photographs again being shown. Time start: 00:09:52:00 Time end: 00:15:01:00 Length: 00:05:09:00

Segment 4 Stephens continues to explain Morquio's disease, going on to describe Maroteaux-Lamy's disease. Photographs of children with the disease are seen, and she describes the physical characteristics and complications. Next, she deals with mucopolysaccharidosis type VII. She then introduces Dr Sutcliffe, who talks about the x-ray changes in these diseases. He shows an x-ray of a skull from a patient with classical Hurler's disease MPS 1H and describes it. Another view of the skull is seen, as well as one of the spine, ribs, coccyx and hands. Time start: 00:15:01:00 Time end: 00:20:18:00 Length: 00:05:17:00

Segment 5 Dr Sutcliffe shows an x-ray of the clavicles. He then shows x-rays from a patient with MPS 1S: fingers and bone cysts. Next are x-rays of MPS 3, Sanfilippo syndrome: cranium and spine. X-rays of a patient with Morquio's disease are shown: spinal x-rays from different ages, hips and metacarpals. Time start: 00:20:18:00 Time end: 00:24:48:10 Length: 00:04:30:10

Segment 6 Sutcliffe continues to show x-rays. Next, a patient with MPS 6: pelvis and jaw. He then introduces Dr Brian Lake, who talks on the examination of the blood films and their part in the diagnosis of these diseases. Lake explains how Alder granules can be demonstrated in blood films by staining in a haematology laboratory. Slides of the results of staining are seen and Lake indicates interesting areas on the slides. Time start: 00:24:48:10 Time end: 00:30:15:00 Length: 00:05:26:15

Segment 7 Lake then explains how to stain blood films to look for metachromasia, and slides are seen here also. Lake hands back to Dr Whiteman, who talks about studies of urinary glycosaminoglycans and their part in diagnosis. Graphs of concentrations of glycosaminoglycans in patients are seen. Whiteman also comments on the glycosaminioglycans to creatine ratio. He explains that qualitative analysis of urinary glycosaminoglycans is useful for confirming a diagnosis of mucopolysaccharidosis and differentiating the various forms. Time start: 00:30:15:00 Time end: 00:34:52:23 Length: 00:04:37:23

Segment 8 Whiteman describes a method of electrophoresis to separate individual urinary glycosaminoglycan components. A photograph shows typical patterns obtained in different types of mucopolysaccharidoses. He compares the various types of disease and graphs show heparan and dermatan sulphate excretion in patients. Whiteman ends the lecture by saying that by following the guidelines laid out in the programme, an accurate diagnosis can usually be made. Time start: 00:34:52:23 Time end: 00:39:17:21 Length: 00:04:24:23