We have investigated the frequencies of sister chromatid exchange (SCE) induced by pulse-wave ultrasound in lymphocytes obtained from the human umbilical vein. The following results were obtained: There is an increase in the frequency of SCEs with increases in acoustic power. The critical acoustic power was 37.3-73 mW/cm2 (spatial average temporal average, SATA). Regardless of changes in pulse duration and repeated pulse frequency, if the acoustic power remains constant, the SCE frequency does not change significantly.
A malformed male infant showed a mosaic trisomy 14 with a karyotype of mos 46,XY/46,XY,−14,+i(14q). The mosaicism was found both in peripheral blood cultures and in lymphoblastoid cells transformed by EB virus infection. His clinical picture was compared with those of 5 previously reported cases of trisomy 14 mosaicism, and the following common phenotypic features were noted: growth retardation, psychomotor delay, narrow or asymmetrical palpebral fissures, broad nose, low-set and dysplastic ears, high-arched palate, micrognathia, short neck, congenital heart disease, and undescended testes.
Chromosome analysis using a G-Banding technique was performed in 35 couples (70 individuals) with a history of two or more spontaneous abortions of unknown cause. Among these individuals, 5 (7%) showed balanced translocations, all of whom were female. The outcome of 31 pregnancies of 10 balanced translocation carriers was as follows: Ten of the offspring had normal phenotypes (32%), 5 (16%) were born with chromosomal abnormalities and 16 (52%) were spontaneously aborted.
We have been following longitudinal changes of diabetic retinopathy by periodic fundoscopy in patients at our out-patient clinic for diabetes mellitus. In this study, we reviewed the prevalence of diabetic retinopathy and the distribution of its severities. Funduscopic examinations for retinopathy were performed on 242 patients. They ranged in age from 13 to 84 years (52.9 +/- 0.9, mean +/- s.e.). Duration of diabetes ranged from 1 to 31 years (10.7 +/- 0.4). Forty patients were treated with diet alone, 112 with oral hypoglycemic agents and 90 with insulin administration. No retinopathy was found in 83 patients (34%), background retinopathy in 113 (47%), preproliferative retinopathy in 24 (10%) and proliferative retinopathy in 17 (7%). Five patients (2%) were blind. Twenty-seven patients (60%) of 45 with a less than 5-year duration of diabetes were apparently without retinopathy, while the incidence of proliferative retinopathy increased in proportion to the duration. Fasting plasma glucose and glycosylated hemoglobin levels were higher in the patients with proliferative retinopathy than in any other group. All of the blind patients had a long history of untreated diabetes. Whether diabetic control assessed by glycosylated hemoglobin influences the progression of retinopathy could not be demonstrated by a 2-year observation. Further analysis based on a longer duration is needed in this respect.
Studies were done on the influence of radiotherapy or chemotherapy on peripheral lymphocyte SCE (sister chromatid exchange) frequency in patients with gynecologic cancer. The average value of spontaneous SCE frequency in 10 patients who had received radiotherapy was 6.94 +/- 2.57 (mean +/- S.D.), which was significantly lower than the control value of 8.59 +/- 2.99 ( p less than 0.001). The rate of decline of these frequency values was negatively correlated with the irradiation dosage. In contrast, the average spontaneous SCE frequency in the patients who had received combination chemotherapy was 12.48 +/- 4.02, which was significantly higher than the control value ( p less than 0.001). The average value of MMC-induced SCE frequency in patients under chemotherapy was much the same as the control value of 26.16 +/- 5.77. That is patients under radiotherapy was 23.88 +/- 5.65, which was slightly lower than the control value. There was, however, no significant difference in the MMC-induced SCE frequency value among these 3 groups.