Crigler-Najjar syndrome in four of five siblings with postmortem findings in one.
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Biomedical subjects
Publications and source records attributed to J W Gerrard.
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Fifty children with nocturnal enuresis have been studied with a view to determining maximum bladder capacities and frequency of micturition, and the changes induced by dietary treatment and imipramine. Of 50 children treated with imipramine, 31 were symptomatically cured. Fifteen of the 48 children treated by dietary measures were also symptomatically cured, but as nine had already been cured by imipramine the correct cure rate for dietary treatment, for reasons indicated in the text, may have been no more than seven of the 48 cases. Treatment on the above lines, in those who responded, led to an increase in bladder capacity and a fall in diurnal frequency of micturition.Because the bladder can enlarge under the above conditions it is concluded that the bladder in the average enuretic is functionally but not structurally small, and that when dietary manipulation helps, it does so by eliminating factors from the diet to which the bladder is sensitive. Imipramine, by contrast, is effective because it blocks peripherally this effect.
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A service has been developed in Saskatchewan to make available the results of studies of human chromosomes, the material being forwarded to the laboratory by local transport facilities. During the first year of this project chromosome studies were requested for five doubtful cases of trisomy-21 (two were found to be normal) and for 20 definite cases of trisomy-21 in young patients (two had translocations but the parents of both these children had normal karyotypes). Eleven confirmed cases of Turner's syndrome, two of Klinefelter's syndrome, and one each of the D and E syndromes were also studied. The largest group for which studies were requested comprised 36 patients with mental retardation; only two abnormal karyotypes were encountered in this group.
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