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51.
NICHOLAS G. BERATIS CESARE DANESINO † KURT HIRSCHHORN ‡ 《Annals of human genetics》1975,38(4):485-493
Assays of arylsulphatase A have been performed on peripheral leukocytes and lymphoid cell lines from normal subjects and heterozygotes and homozygotes for metachromatic leukodystrophy (MLD) by utilizing an improved procedure based on the removal of excess protein from the final digest. No overlap of arylsulphatase A activity was observed between peripheral leukocytes obtained from 11 normal donors, 8 heterozygotes and 5 homozygotes for MLD. Absence of enzyme activity was demonstrated in the patients' leukocytes, when the modified assay procedure was employed. Arylsulphatase A activity (mean +/- S.D.) in 30 lymphoid lines and sublines established from 18 normal donors, 2 heterozygotes and 1 homozygote for MLD was 54-5 +/- 23-1, 24-1 +/- 3-2 and 0-9, respectively. The enzymic activity of arylsulphatase A and B remained stable over a period of several months. These findings indicate that long-term lymphoid lines express the genotype of the donor and maintain enzyme stability over long periods in culture. Moreover, it appears that peripheral leukocytes are a reliable system for the identification of the carrier state of MLD. 相似文献
52.
PHILIP KIRWAN Lecturer Senior Registrar NICHOLAS J. NAFTALIN Consultant Obstetrician und Gynaecologist 《BJOG : an international journal of obstetrics and gynaecology》1985,92(3):287-291
Summary. The effectiveness of 5-fluorouracil (Efudix) in the treatment of vaginal intraepithelial neoplasia was assessed in 14 patients diagnosed with the condition between January 1980 and December 1982. All patients received a standard dose of 2.5 g 5-fluorouracil cream once weekly f o r at least 10 consecutive weeks: mean duration of treatment was 12 weeks (range 10–20 weeks). The vaginal lesion was associated with a major dysplastic lesion of the cervix in all patients. The duration of follow-up ranged from 4 t o 42 months (mean 15 months). Thirteen patients had complete resolution both colposcopically and cytologically. One patient still had colposcopic evidence of intraepithelial neoplasia (aceto-white epithelium) but a vaginal smear has been negative. This patient has since been lost t o follow-up. We conclude that in t h e regimen described 5-fluorouracil is an effective treatment f o r vaginal intra-epithelial neoplasia. 相似文献
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ABSTRACT. This survey of 7,877 indents of convict arrivals at Port Jackson 1825–40 examines the hypotheses of Dr. Bryan Gandevia that transported males did not attain maximum height until 25–29 years of age; that the growth potential of male and female convicts was never achieved; and that the Australian environment had a dramatic positive impact on the stature of second-generation native-born children. It is argued that adult height was achieved by 23 years of age; that original estimates of mean adult stature were too low; and that the growth rate of 'convict stock'children has probably been exaggerated. 相似文献
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