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Biomedical subjects

A Lazzarini

Publications and source records attributed to A Lazzarini.

35 records · Page 2Linked to original sources

Effects of 6,6'-dithiodinicotinic acid (CPDS) and its metabolite 6-mercaptonicotinic acid (6-MNA) on murine and hamster fibroblasts (3T3 and BHK) and murine metastatic melanoma cells (F10).

We investigated the action of 6,6'-dithiodinicotinic acid (CPDS) and its metabolite 6-mercaptonicotinic acid (6-MNA) in vitro on murine (3T3) and baby hamster kidney (BHK) fibroblasts and an in vivo highly metastatic subline of murine B16 melanoma (F10). CPDS determined an inhibition of cell growth and a decrease in cell adhesion, while 6-MNA had no effect. When combined with data of the mitotic index and endogenous purine ribonucleotides (on which the drugs seem to have no effect), these observations are conceivable with the hypothesis that the primary target of CPDS is cell membrane.

Cell Adhesion↗

Effects of chromium(VI) and chromium(III) on energy charge and oxygen consumption in rat thymocytes.

The cytotoxic effects of chromium compounds in two oxidation states have been studied in rat thymocytes. endogenous nucleotide levels and oxygen consumption were examined as relevant parameters of the physiological state of the cell. Incubation of rat thymocytes with Cr(VI) produced a marked unbalance of endogenous purine nucleotide pool and a parallel decrease in oxygen consumption. A close correlation between the reduction of oxygen consumption and ATP level in rat thymocytes treated with increasing concentrations of Cr(VI) has been found. In rat thymocytes permeabilized with digitonin and in isolated rat liver mitochondria both Cr(VI) and Cr(III) showed, at different range of concentrations, a marked inhibition of maximal oxygen consumption rate (uncoupled respiration). The effects observed were depending on chromium oxidation state and on different mitochondrial sites of substrate oxidation.

Adenosine Diphosphate↗

A genetic study of red cell osmotic fragility in Huntington's disease.

The erythrocyte osmotic fragility was evaluated on 19 unmedicated subjects with Huntington's disease and 42 individuals at 50% risk, 27 children at 25% risk, and a group of 60 hematologically normal control persons. Five older subjects at 50% risk for Huntington's disease as well as 6 Alzheimer's disease individuals were also evaluated for comparison. The osmotic fragility of fresh and 24-hour incubated red cells was analyzed and a fragility index calculated for each individual. The fragility index for the Huntington's disease group was statistically lower than that of the control group (P less than .001) suggesting that the Huntington's disease erythrocytes had a reduced osmotic fragility. In the 50% risk group, 45% of the subjects demonstrated decreased osmotic fragility and 55% had normal fragility. For those subjects in the 25% risk group, 22.2% had decreased fragility and 77.8% had normal fragility. Twenty-seven offspring were evaluated of the 14 persons at 50% risk for Huntington's disease with children; eight of the 14 individuals at 50% risk showed normal fragility and all 16 of their children showed fragility indices with the normal range. The remaining six persons at 50% risk for Huntington's disease had increased erythrocyte fragility and out of their 11 children, five showed normal fragility and six had decreased fragility. These data support the hypothesis of reduced erythrocyte osmotic fragility in individuals affected with and at risk for Huntington disease, and demonstrate the need of further study of the erythrocyte in this complex behavioral genetic disease.

Adolescent↗

Attitudes regarding utilization of artificial insemination by donor in Huntington disease.

We report on a study of attitudes toward artificial insemination by donor (AID) of persons at risk for Huntington disease (HD). The subjects of the study were 91 at risk persons and 68 matched controls. Both groups were divided by sex and age (45 yr less than or equal to vs greater than or equal to 46 yr). Demographic data included age, occupation, marital status, religion, education, ethnic background, and family size. We recorded 1) attitudes toward reproduction, 2) nature of contact with affected family member(s), 3) effects of HD on family planning, 4) attitudes toward AID, and 5) concern about donor selection criteria. Results suggest that 1) men and women differ in several ways with regard to their views about AID, and 2) that more vigorous educational programs might increase utilization of AID for the prevention of not only HD, but other human genetic diseases as well.

Adult↗

Altered red cell osmotic fragility in Huntington disease (HD).

We have studied in fresh and 24-hour incubated samples the osmotic fragility of erythrocytes from 13 individuals with Huntington disease (HD) and 22 at-risk, asymptomatic individuals. Five older at-risk, asymptomatic individuals and six Alzheimer disease individuals were also studied. Results suggest that osmotic fragility of red cells from HD individuals in significantly decreased in fresh (P less than 0.0001) and incubated (P less than 0.0001) samples. At-risk individuals appear to fall into two groups: 1) those with normal osmotic fragility (n =10), and 2) those with decreased osmotic fragility (n = 12). Fragility in older at-risk persons and those with Alzheimer disease were within normal limits. These data suggest that red cell osmotic fragility measurement may be useful to identify at-risk persons with an HD gene; however, longitudinal follow-up will be required to confirm the predictive power of this observation. These data suggest additional support for focusing on the erythrocyte in investigating the molecular pathogenesis of HD.

Adult↗

A low frequency mosaicism for monosomy 21 in a live born female.

Monosomy 21, whether homogeneous or as a mosaicism, is very uncommon. We report here a 3-month-old white female with a low degree of monosomy 21 in the blood karyotype (6.5%, 110 cells counted) but not in the skin fibroblasts, which contained only the normal chromosome complement. The patient's physical features included microcephaly with frontal slanting; prominent occiput; ridge-shaped sutures; agenesis of the corpus callosum; large, prominent ears; high and narrow palate; micrognathia; tetralogy of Fallot; crowded toes; and dry, thick skin with very little subcutaneous tissue. The case is discussed in light of the suggested clinical features of the "monosomy 21" syndrome and the possible implications of such a low-grade mosaicism in prenatal diagnosis.

Abnormalities, Multiple↗

[Acute pancreatitis and hyperlipoproteinemia].

About 10 patients admitted with acute pancreatitis were also, found to have Fredrikson type V hyperlipoproteinaemia. Eight were males aged less than 45 yr. Awareness of the aetiopathogenetic and metabolic aspects of this increasingly common association and its clinical identification form the sine qua non in the prevention of recurrences via marked dietary restriction of fats.

Acute Disease↗