Biomedical subjects
Publications and source records attributed to A Robinson.
A child with Ph1-negative juvenile chronic myelogenous leukemia (CML) is presented. The only chromosomal abnormality in hematopoietic tissues consisted of an absent Y chromosome. While a missing Y chromosome in adult patients with CML may be associated with a better prognosis, the clinical course in our patient was as malignant as that usually observed in other children with Ph1-negative juvenile CML.
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In an epidemiological study, infants identified at birth as having sex chromosome anomalies are enrolled in a voluntary, long term evaluations program. Case histories are presented of the first four boys in the series to have a 47,XXY karyotype. They have been followed from birth for 6 to 9 years, with physical and psychological evaluations. Parents were informed in general terms of the child's genetic defect, and were offered continuing support and encouragement throughout the study. Close cooperation with the families was maintained. So far, the development of all these children has fallen clearly within the normal range and a reasonable healthy dpattern has been secured. Minor deviations in motor, speech and emotional development suggest a common underlying pattern, but four cases are too few on which to establish a relationship between karyotype and phenotype. The data suggest that the symptomatology reported in selected children with a 47,XXY karyotype may be strongly dependent on factors other than the chromosomal constitution, and that an appropriate familial and environmental situation may minimize elevated risks due to the marked genetic defect.
In a 1-year follow-up study, the effects of amniocentesis for genetic diagnosis upon 22 infants and their mothers were assessed. The infants were tested at 1 year of age on the Bayley Infant Scale of Mental and Motor Development. No deviations from normal mental or motor development were found. The mothers were interviewed at the same time, in order to better understand the emotional aspects of the experience. Women between ages 35-39 with no previously affected child tended to accept amniocentesis easily, as an appropriate part of parnatal care. Mothers with a previous defective child tended to have more painful emotional reactions, including higher anxiety over the test and more conflict about a possible abortion. They needed more intensive and extended counseling. We suggest that the issue of abortion is important, even if manageable by most women, and that a chance to discuss it may be significant.
Leakage of low-melting-point metals from the underside of polystyrene molds can be prevented by applying a silicone caulking material to the bottom of the mold and pressing the mold on a metal plate before pouring.
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The pinhole camera technique has been compared with resolution and other methods for measuring the focal spot dimensions fo diagnostic X-ray tubes. These comparisons show that the resolution method offers an accurate estimation of the focal spot dimensions without the difficulties normally encountered in pinhole camera techniques. Accuracy and reproducibility of the "star-test" resolution method is examined. The current standard specifications for pinhole camera measurements are also discussed, and in the light of results obtained, changes in these specifications are suggested, particulary with regard to correction factors for non-uniformity of the intensity distribution and manufacturing tolerances.
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Development of 11 girls (ages 2-10 years) with 47,XXX karyotype identified in a newborn survey is compared with eight girls having a mosaic sex chromatin pattern and with the normal siblings of each group. Delay in early motor development and speech, a mild intellectual deficit, and disturbance in interpersonal relationships occurred in one-third of the index cases, a higher frequency than in the comparison groups. two-thirds were considered normal and adequately adjusted. No consistent phenotype was found.
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