Duane's retraction syndrome associated with chromosome 4q27-31 segment deletion.

PURPOSE/METHOD: A 15-year-old boy with bilateral blepharoptosis, bilateral type 1 Duane's retraction syndrome, and mild learning difficulties underwent chromosomal analysis. RESULTS/CONCLUSIONS: A de novo deletion of a segment of the long arm of chromosome 4 (4q27-31) was found. To our knowledge, no other individuals with this chromosome deletion have Duane's retraction syndrome. The chromosome defect lies close to the epidermal growth factor gene, 4q25, which was recently linked to Rieger's syndrome. We suggest that families with Duane's retraction syndrome should be assessed for linkage to the area of 4q27-31.

Detection of antiphospholipid antibodies by flow cytometry: rapid detection of antibody isotype and phospholipid specificity.

Laboratory diagnosis of antiphospholipid antibodies is important in patients with clinical features of the antiphospholipid syndrome, such as thrombosis and fetal loss. We have developed a novel method for the detection of antiphospholipid antibodies using flow cytometry. Anionic phospholipids cardiolipin, phosphatidylserine and phosphatidylinositol are coated onto polystyrene beads of different sizes, allowing detection and semiquantitation of their respective phospholipid antibody isotypes. The results of the flow cytometric method closely correlate those of the standardised anticardiolipin enzyme-linked immunosorbent assay (ELISA), but the method is quicker and is versatile in its ability to detect IgG, IgM and IgA antibody isotypes at the same time. The method promises to be useful in evaluating the significance of phospholipid specificity and antibody isotypes in patients with the antiphospholipid syndrome.

An instrument for quantifying meibomian lipid on the lid margin: the Meibometer.

An instrument, the Meibometer, is described for estimating the casual level of meibomian lipid on the human eyelid margins, adapted from a commercially-available instrument used for measurement of skin surface lipid. A loop of plastic tape is pressed onto the everted lower lid margin to lift off a blot of lipid. The resultant change in light transmission of the tape is read by a photometer. Readings are not affected by side (R or L), time of day or lid surface temperature. After cleaning lipid from the lid margins with hexane, the rate of recovery per 10 blinks, as a percentage of the pre-cleaned level, was measured as 33.7 +/- 5.8 (mean +/- SE). This rate of delivery appears to provide enough lipid for complete resurfacing of the preocular tear film with every blink. Over short periods no detectable lipid was delivered in the absence of blinking.

The casual level of meibomian lipids in humans.

Using a modified skin surface lipid measuring instrument, the Meibometer, the amounts of meibomian lipid on the lid margins (the casual levels) of 421 subjects aged 1 to 94 years were measured. The lowest levels were found in children younger than 14 years (means +/- S.E.: males = 1.48 +/- 0.17, females = 1.53 +/- 0.17 micrograms lipid/mm2 lid margin surface) and rose with age, the highest levels being found in males aged 60-69 years (mean +/- S.E. = 3.26 +/- 0.18 micrograms lipid/mm2 lid margin surface). Male levels were higher than females in the 20-29 years age group but male and female levels became indistinguishable above the age of 50. These age- and sex-related changes differed markedly from those seen in skin surface lipid levels. The age-related changes in the casual levels of lid lipids remain unexplained although an endocrinological mechanism modified by morphological factors is considered.

Industrial injuries in a plant.

This is a five year study of types of lost-time industrial injuries in a plant dealing with paper manufacturing and timber production. Back injuries accounted for 26% of all lost-time work accidents. Thirty-three point six percent of all back injuries were due to lifting or pulling of timbers at work. This occurred mainly in the timber yard of the plant where heavy manual work occurred. Males up to the age of 35 accounted for about 60% of back injuries. They have a higher tendency to injure their backs than do older males who were longer and more experienced workers. Back injuries were uncommon in the female workers. They accounted for a mere 0.3% of all back injuries. They were mainly clerical workers or cleaners reflecting lighter nature of their work. This study helps the company to plan better occupational safety programmes to reduce work hazards.

Lost-time work accidents in an industry.

This is a study of the number, and trends in lost-time work accidents in a paper-manufacturing plant using company records. The accident statistics have changed since the introduction of the Accident Compensation Act on 1 April 1974. There was a 150% increase in reported lost-time work accidents from 1973 to 1977, a period during which the workforce increased only by 24%. The main reason is due to the different benefit rates that are payable to lost-time accident cases under the Accident Compensation Act. This study also shows management commitment to safety programmes can effectively reduce the number of reported lost time accidents. The average accident frequency rate of this firm from 1961 to 1982 was 5.71 accidents per 100 000 man-hours.

Idiopathic retroperitoneal fibrosis with protein-losing enteropathy and duodenal obstruction successfully treated with corticosteroids.

A 40-year-old carpenter presented with vomiting due to duodenal obstruction. On further investigation he had partial obstruction of both ureters and occlusion of the inferior vena cava. At laparotomy a large retroperitoneal mass of fibrous tissue was found, which extended into the root of the mesentery of the small intestine and partially occluded the duodenum. There was enlargement of lymphatics and stasis of lymph throughout the mesentery. Hypoalbuminemia was present. (131)I-labelled human serum albumin disappeared rapidly from the plasma and there was excessive loss of plasma albumin into the gastrointestinal tract, presumably owing to obstruction of the lymphatic drainage of the small intestine. Prompt improvement followed treatment with prednisolone. Steroids are apparently useful in this condition, early in the disease before irreversible fibrosis has developed. The presenting feature, vomiting due to duodenal obstruction, has been reported in retroperitoneal fibrosis only once before. This is the first report of protein-losing enteropathy in this disorder.