In an evaluation of the possible chromosome damage caused by cytostatic agents 11 nurses with long-term exposure to such agents were studied. Five laboratory workers and 11 hospital clerks served as referents. The number of chromosomally aberrant lymphocytes was significantly higher in the group of nurses than in the group of laboratory workers or hospital clerks. The number of chromosome-type breaks was increased significantly among the nurses as compared to the reference groups. There was no significant difference in the number of chromatid-type breaks between the groups. The observed increase in chromosome-type aberrations may have been due to long-term occupational exposure to cytostatic agents.
We describe the clinical findings and biochemical features of a male child suffering from a so far undescribed lethal connective tissue disorder characterised by extreme hypermobility of the joints, lax skin, cataracts, severe growth retardation, and insufficient production of type I and type III procollagens. His features are compared with Ehlers-Danlos type IV, De Barsy syndrome, and geroderma osteodysplastica, as these disorders show some symptoms and signs shared with our patient. The child died because of failure of the connective tissue structures joining the skull and the spine, leading to progressive spinal stenosis. The aortic valve was translucent and insufficient. The clinical symptoms and signs, together with histological findings, suggested a collagen defect. Studies on both skin fibroblast cultures and the patient9s serum showed reduced synthesis of collagen types I and III at the protein and RNA levels. The sizes of the mRNAs and newly synthesised proteins were normal, excluding gross structural abnormalities. These findings are not in accordance with any other collagen defect characterised so far.
Interferon production was induced by Sendai and Newcastle disease virus in blood obtained from patients with Down's syndrome (eight cases), Fanconi's anaemia (one case), subacute sclerosing panencephalitis (one case), blast cell leukaemia (nine cases), chronic lymphocytic leukaemia (six cases) and control subjects. The titres per millilitre of blood varied greatly, but the interferon response per lymphocyte was comparatively constant in all groups with the exception of chronic lymphocytic leukaemia, where the cells displayed a markedly reduced interferon-producing ability.
An ultrasonic diagnosis of a lethal, autosomally recessive syndrome of multiple congenital contractures was made in seven high-risk pregnancies on the 13rd to 17th gestational weeks. The diagnostic findings were the development of progressive subcutaneous oedema from the 13th gestational week on and the decrease of fetal limb movements.
