Biomedical subjects
Publications and source records attributed to M Ferraro.
We studied the karyotypes of 10 members of a family in whom hypertrophic cardiomyopathy is segregating as an autosomal dominant trait. In all those affected by the disease, a fragile site on the long arm of chromosome 16 was found, expressed with different frequencies, but the unaffected family members did not show this trait.
A case of acute organophosphate poisoning (Malatox P20) in a 24-year-old woman, is reported. The signs and symptoms of acute poisoning are described and a rational approach to specific treatment is discussed.
Visual processing was investigated in judgments of relative line position. Stimulus continua were generated by bisecting a straight line and displacing the segments. Experiment 1 measured discrimination of pairs of longitudinally displaced segments at equal steps along the continuum. At long (2 s) durations discrimination fell smoothly, but at short (100 ms) durations it was sharp-peaked. In Experiment 2 the short-duration stimuli were labeled with subsets of the labels no gap, just a gap, and more than just a gap. Theoretical discrimination performances were computed and the one based on no gap and just a gap closely fitted observed performance. Experiments 3 and 4 were similar to 1 and 2, with lateral replacing longitudinal displacement. Similar "categorical" performance was obtained. It was concluded that there are discrete mechanisms for early detection of relative line position and that 2 labels can be used to characterize performance in each direction.
An unusual clinical case of a foreign body (a toy fragment) adhering by section to the palatine mucosa of a child is repeated. Greater attention is called for to prevent this kind of accident.
Active human ribosomal gene clusters (NORs) are distinguishable from inactive ones by silver staining. By sequentially applying deoxyribonuclease I (DNase I)-directed in situ nick-translation and silver staining to fixed chromosome preparations, we found that active NORs are more sensitive to DNase I than inactive ones. Use of the two restriction isoschizomeres MspI and HpaII to modify the nick-translation technique showed that active NORs are significantly less methylated than inactive ones. Taken as a whole, our results indicate that ribosomal gene activity, DNase I sensitivity, and DNA methylation are closely interrelated.
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In previous experiments two extreme modes of visual discrimination performance have been investigated by measuring small differences in pattern shape at points along a continuum of pattern shapes. These two modes, associated with discrete and continuous encoding processes, were obtained by simultaneously manipulating the number of pattern components in the display and the effective duration of the display. In this experiment, discrimination performance was measured for a fixed number of pattern components, namely three, and variable display time course. The stimuli used were curved lines drawn from a continuum with curvature parameter s. There were three stimulus time courses: (1) 2-s stimulus display, (2) 100-ms stimulus display, and (3) 100-ms stimulus display followed by a post-stimulus mask. Discrimination performance declined smoothly and monotonically with s for (1), but varied non-monotonically with s revealing a central peak for (3). Performance for (2) was intermediate between that for (1) and that for (3). A reduction in effective stimulus duration alone was thus sufficient to cause a transition from continuous to discrete modes of discrimination performance, a result which may be compatible with an explanation of variable discrimination modes based on a method of successive internal approximations of the stimulus.
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Mitotic chromosomes with sister chromatids bearing differentially active ribosomal gene clusters were recovered from human lymphocytes exposed to 5-azacytidine. The hypothesis was that the differential activity was determined by the hypomethylation of one of the two sister chromatids. The verification was carried out by "labeling" the 5-azacytidine-substituted chromatid with BUdR, and then checking the location of active clusters by specific staining techniques. Data obtained confirmed that the chromatid bearing the active cluster was indeed the 5-azacytidine-substituted one.
Experiments were carried out using human lymphocytes from a male donor in order to test the action of 5-azaC treatment on the induction of SCE and chromatid aberrations. The 5-azaC was found to increase the frequency of both baseline and MMC-induced SCEs. Using the same 5-azaC treatment conditions it was found that the frequency of X-ray-induced CA did not increase.
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The results of a detailed analysis of DNA replication in a late replicating tX/X chromosome (qter----p221::p223----qter) are reported. The chronology of DNA replication has been analyzed by comparing (a) the replication patterns of each of the two moieties of the translocation chromosome in different cells and (b) the two moieties with each other in the same cell. The study has been done on leukocyte and fibroblast cultures after BUdR incorporation. A comparison with the late replication pattern of the normal X chromosome has also been done.
Discrete and continuous modes of visual pattern discrimination performance are analyzed using a model for the investigation of discrete internal pattern representations described in previous papers (Foster, 1980a, b). A simple quantitative criterion is derived to characterize the two kinds of visual discrimination performance. Values predicted by this criterion are then compared with values obtained from experimental data.
Cultured human fibroblasts were exposed to 5-azacytidine which inhibits methylation of newly synthesized DNA. A significant increase in the mean number of Ag-stained active nucleolus organizers has been observed in treated cells. This suggests that DNA methylation is involved in modulation of human rRNA synthesis.
The study has been carried out in order to investigate the effects of some drugs in coma doses on the concentration in brain of some amino acids involved in brain function. Six groups of 25 guinea pigs each were utilized. In each of the five groups a subcutaneous dose of diazepam, flunitrazepam, phenobarbital, phenytoin or alfaxalone, was injected and one group was utilized as control. Some neurotransmitter amino acids (glutamate, aspartate, glycine and taurine) and precursors of neurotransmitters (phenylalanine and tyrosine) were determined in brain preparations. The results are discussed.
The frequency of major and minor chromosome variants is studied in a random sample of newborns in Central Italy. Special attention is paid to the objective criteria used to evaluate minor variants. In our sample, the frequency of acrocentric chromosome variants is found to be unusually high compared with previous studies. Also, the distribution of C-band sizes differs from that reported for other populations, while the frequency of major chromosome variants is found to be the same.
Silver stainability of nucleolus organizer regions (NORs) appears to be correlated with the presence of grouped sulfhydryl (SH) side chains of proteins. In fact, heavy metals with high affinity for SH groups, such as Hg and Cu, do prevent the silver staining reaction. Ferricyanide, which is known to oxidize SH to disulfides, also prevents any further reaction with silver. On the other hand, alkali and reducing agents (mercaptoethanol, cyanide) do not affect silver stainability of the NORs. These results show that the silver staining reaction is not related to disulfide or persulfide groups and that alkali-soluble, acidic nuclear proteins per se do not play a major role in this process.