Biomedical subjects
Publications and source records attributed to N Nathwani.
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It has been proposed that all live born females with Turner syndrome carry a cell line containing two sex chromosomes, which may be present at a low level of mosaicism (Hook & Warburton, 1983; Hassold et al. 1985; 1988; Connor & Loughlin, 1989). If the second sex chromosome is a Y, these patients are at risk of developing gonadoblastoma. In this study, 50 patients found to have a 45,X karyotype by conventional cytogenetic analysis, were screened by the polymerase chain reaction (PCR), for the presence of Y chromosome sequences. Two patients were positive for six of the eight Y chromosome loci tested and additional cytogenetic analysis confirmed the presence of a marker chromosome, in 8% and 3% of cells respectively. Fluorescence in situ hybridization (FISH) was used to confirm that the markers were of Y chromosome origin and helped to elucidate their structure. In addition, four other patients were found to have a Y chromosome by initial routine cytogenetic analysis. FISH, in conjunction with PCR, elucidated the structure of the Y chromosomes. This study illustrates the value of using a combination of cytogenetic and molecular techniques, to identify Y chromosome sequences in Turner syndrome.
There is little information on the immediate and long-term results of skin grafting to chronic lower limb ulcers. Our experience in their management had led us to analyse, retrospectively, the results of split thickness skin grafts applied to lower limb ulcers in 88 consecutive patients. Graft take has been related to bacterial growth from ulcer swabs taken on admission, preoperatively and postoperatively. Follow-up was for a median of 18 months. Initial graft take varied from 20% to 100% (median 85%). Bacterial flora grown from the ulcer swabs varied with the duration of the ulcer and the treatment. Analysis by bacterial type has shown that Staphylococcus aurcus and Pseudomonas significantly reduced skin graft healing. Overall, 90% of these ulcers had healed with a median of 6 weeks' in-patient treatment. Examination of the swab results from the 8 ulcers that were slow to heal postoperatively and the 8 ulcers that recurred 6 days to 8 months after discharge from hospital revealed that 15 out of 16 (94%) grew S. aurcus; none had Pseudomonas isolated from them. After eighteen months 8% of these ulcers remain active. Aetiology appears important as this figure is 6% for limbs affected by venous disease only, 13.3% for limbs with arterial disease only and 13.6% for limbs with both venous and arterial disease.
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