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Biomedical subjects

A Boylston

Publications and source records attributed to A Boylston.

24 records · Page 2Linked to original sources

Linkage studies between polymorphic markers on chromosome 4 and cystic fibrosis.

It has been suggested that a protein factor causing ciliary dyskinesis is a marker for the basic defect causing cystic fibrosis (CF), and that the structural gene for this protein may be (amongst others) on human chromosome 4. We have isolated two DNA sequences mapping to chromosome 4 which show restriction fragment length polymorphisms (RFLPs), and have followed their segregation in families in which cystic fibrosis occurs. Eleven families with a total of 30 children with CF and ten unaffected sibs were studied. We have also followed the inheritance of RFLPs revealed by two probes mapping to chromosome 4 and obtained from another laboratory, polymorphisms revealed by cloned coding sequences for albumin and fibrinogen, and the inheritance of the MNS blood group. Although the level of albumin is altered in children with CF, the gene does not segregate with CF, and therefore albumin can be excluded as the site of the basic defect. Tight linkage with CF was not found with any of the seven markers investigated, and therefore, assuming that the markers (excepting MNS and fibrinogen) are unlinked to one another, approximately half of the total genetic length of chromosome 4 may be excluded.

Chromosome Banding↗

Kaposi's sarcoma of the bowel--presenting as apparent ulcerative colitis.

Persistent diarrhoea with mucus-production developed in a 37 year homosexual man, and an initial diagnosis of ulcerative colitis was made after barium enema examination and rectal biopsy. The patient later developed cutaneous lesions which proved to be Kaposi's sarcoma, and the bowel lesion was also subsequently shown to be Kaposi's sarcoma. This tumour occurred as a manifestation of the acquired immune deficiency syndrome (AIDS). The patient was treated with alpha interferon, with partial regression of the skin lesions, but progression of the bowel tumour. Because of severe bowel symptoms, including episodes of subacute intestinal obstruction, the localised bowel disease was treated with radiotherapy. In view of the increasing incidence of AIDS, a diagnosis of Kaposi's sarcoma must be considered in homosexual men presenting with persistent diarrhoea, for which no infectious cause can be demonstrated.

Acquired Immunodeficiency Syndrome↗

Enzyme replacement therapy by fibroblast transplantation: long-term biochemical study in three cases of Hunter's syndrome.

We have assessed the effectiveness of transplanted histocompatible fibroblasts as a long-lived source of lysosomal enzymes for replacement therapy in three patients with Hunter's syndrome, over periods ranging from 2.5 to 3.75 yr. The level of Hunter corrective factor excreted by all three patients increased after transplantation, as did the activity of alpha-L-idurono-2-sulfate sulfatase in serum, when measured directly with a radioactive disulfated disaccharide substrate. Sulfatase activity was also raised in leukocyte homogenates from the two patients that we were able to assess. These increases in enzyme activity were accompanied by corresponding increases in catabolism of heparan and dermatan sulfates, as shown by (a) a decrease in sulfate:uronic ratios of urinary oligosaccharides, (b) an increase in iduronic acid monosaccharide, and (c) a normalization of Bio-Gel P-2 gel filtration profiles. Both the increase in enzyme activity and increased catabolism were maintained during the period of study and were not affected by either a gradual decrease or total withdrawal of immunosuppressive therapy.

Child↗

Immunological effects of IgT synthesized by theta-positive cell lines.

The effects of immunoglobulin (Ig) purified by affinity chromatography from two cultured T cell lines on in vitro immune responses was studied. IgT purified from both EL-4 and WEHI-22 suppressed the thymus-dependent IgM response, but had no effect on the thymus-independent IgM response. In contrast, the IgG responses to both thymus-dependent and independent antigens were augmented at optimal concentrations of IgT. Ig of B cell origin--serum Ig, myeloma Ig, B cell surface Ig -- did not have any of these effects. Because of the similarity of the effects of IgT purified from the lymphomas with the effects of T cells and their IgT, it seems likely that the IgT obtained from EL-4 and WEHI-22 cell lines are analogues of normal IgT and thus should be useful in elucidating some of the chemical and biological properties of IgT.

Animals↗