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Biomedical subjects

R Bova

Publications and source records attributed to R Bova.

28 records · Page 2Linked to original sources
PubMed1983

A boy with ring chromosome 15 derived from a t(15q;15q) Robertsonian translocation in the mother: cytogenetic and biochemical findings.

We describe a boy with a ring chromosome 15, showing the manifestations characteristic of this condition, ie, growth deficiency and unusual facial appearance with minor anomalies. The ring was derived from a t(15q;15q) chromosome of the mother, who had also had four spontaneous abortions. The respective karyotypes were 45,XX, -15,-15,+t(15q;15q) (mother) and 46,XY,-15,+r(15q;15q)mat (15q13 leads to cen leads to 15q26)(son). The ring chromosome lacked the short arms of the two translocated chromosomes 15 and was duplicated for a portion of the long arms near the centromere, probably cen leads to q13. Data from enzyme assays suggest that this duplicated region carries the alpha-mannosidase gene.

Adult↗
PubMed1981

Estrogen and progesterone binding proteins in human colorectal cancer. A preliminary characterization of estradiol receptor.

Estradiol receptor (ER) and progesterone receptor (PgR) were assayed in tumors from 20 patients with primary colorectal cancer. Ten of 20 tumors contained high affinity sites for 17 beta-estradiol and progesterone. The highest concentration of ER was 56 fmol/mg of protein. The ER dissociation constant ranged from 1.6 X 10(-10) M (mean 4.6 +/- 2.6). The highest concentration of PgR was 42 fmol/mg of protein. The PgR dissociation constant ranged from 3 X 10(-9) to 9 X 10(-9) M (mean 5.65 +/- 2.1). Four out of 20 specimens analyzed were from male patients and all resulted negative for both receptors. Sixty per cent of ER positive tumors were also PgR positive, whereas only 20% of ER negative were PgR positive. Sucrose gradient centrifugation showed that cytoplasmic ER of colorectal cancer sedimented at 3 S in the absence of protease inhibitors and at 4.5 S in the presence of 1 mM phenylmethylsulphonyl fluoride (PMSF) both in low and in high ionic strength. When chromatographed on Sephadex G-200 almost all ER was quantitatively recovered in the included fractions. Molecular weights of ER eluted from Sephadex G-200 ranged from 90,000 to 50,000 daltons. Elution profile and molecular weight heterogeneity suggest that, in spite of the presence of PMSF, there is a limited proteolysis of ER. Partially purified colorectal cancer ER did not bind to sepharose-heparin. The isoelectric point of ER was 6.4-6.5.

Adenocarcinoma↗
PubMed1980

Properties and significance of a small marker chromosome in amniotic fluid cells.

We report the presence of a small supernumerary metacentric chromosome in an amniotic fluid cell culture. The extra chromosome was inherited from the mosaic mother, and was characterized by the presence of four satellite regions, two on each side of the centromere. The pregnancy proceeded to term, and our findings were confirmed in the clinically normal offspring. The problems posed by the presence of the marker chromosome, in terms of both cytogenetic diagnosis and genetic counseling, are discussed in the light of similar cases from the literature.

Adult↗
PubMed1978

Comparative studies in two cases of testicular feminization syndrome, one with and the other without the fluorescent distal band q12 of the Y.

In two patients with testicular feminization syndrome, one Yq12-positive and the other Yq12-negative, we compared phenotype, gonadal histology and ultrastructure, in vivo steroid response of the testes to the administration of exogenous gonadotropin during adrenal suppression, and of the adrenal gland to ACTH. The assumption that the constitutive Y heterochromatin could function as a regulator of steroid biosynthesis and metabolism, with or without effect at other levels, was not firmly supported by the observations reported here. However, further studies along this line may help elucidate the biologic role of this portion of the Y chromosome in humans.

Adrenal Glands↗
PubMed1978

Kinetics of 21-trisomic lymphocytes. I. In vitro response of 21-trisomic lymphocytes to PHA.

Data presented here on the quantitative 3H-thymidine incorporation into DNA, after PHA mitogenic stimulation, show that 21-trisomic lymphocytes are low-responders to PHA compared with the normal-diploid ones. Their responsiveness seems to decrease with the donor's age. Auto-radiographic studies clearly demonstrate that the fraction of labeled cells at the 72nd h of incubation is significantly smaller in the 21-trisomic lymphocyte population. The comparison of labeling indexes at different times of incubation (24, 48, 72 h) also indicate, in the same population, a slower increment of the portion of DNA-synthesizing cells. Discussing these data in the light of other's observations and recent progress in the knowledge of factors and mechanisms involved in the lymphocyte response to lectin mitogenic stimulus, it is suggested that differential distribution of T- and B- and/or T-cell subpopulations and a retarded cell induction time to proliferate may be two important factors negatively influencing the responsiveness of 21-trisomic lymphocyte population.

Adolescent↗