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Biomedical subjects

G Marchetti

Publications and source records attributed to G Marchetti.

At least 109 records · Page 6Linked to original sources
PubMed1989

Mammalian tissue culture growth, viral replication, and cultivation using serum replacement factor.

Variability, cost, and availability of fetal bovine serum are in question; thus, we examined whether using a serum replacement factor in multiple mammalian tissue cultures could support not only cell growth, but also viral replication, expression, and retention of phenotypic markers. By using a serum replacement in defined media, we demonstrated multipassage cell growth of several different cell lines and viral cultivation and replication equivalent to fetal bovine serum. Moreover, by supplementing media with a serum replacement factor we observed at least a 28% financial savings.

Animals↗
PubMed1989

Partial gene deletion in a family with factor X deficiency.

The presence of gene lesions in coagulation factor X (FX, Stuart factor) was investigated in patients with FX deficiency or an FX abnormality (FX Friuli). The proposita had a heterozygous partial deletion of the FX gene with severe deficiency of FX activity and antigen. The lesion, which was inherited from her mother, removes the 3' portion of the gene coding for the catalytic domain of the factor. In this family, two differently affected FX genes are present, leading to double heterozygosity of the proposita and thus excluding consanguinity of parents. An apparently normal gene structure was observed in the other patient with FX abnormality, suggesting the presence of a small gene lesion.

Alleles↗
PubMed1988

A HindIII RFLP and a gene lesion in the coagulation factor VIII gene.

The presence and inheritance of restriction fragment length polymorphisms (RFLPs) and gene lesions in the coagulation factor VIII gene were investigated in 15 hemophilia families. An abnormal HindIII 2.6-kb band, previously detected in a severe hemophiliac, was observed in a not severely affected patient and also in the normal gene of a woman carrying a hemophilic gene in which the lesions was found. The TaqI site in exon 24 of this defective gene was removed by a C to T transition causing an amino acid change (Arg----Gln). Very low amounts of factor VIII activity and antigen were detected in the severely affected grandson. The presence of the HindIII 2.6-kb fragment in both normal and pathological genes indicates that a factor VIII RFLP without functional meaning was found. Its frequency, determined in 60 chromosomes, is 0.18. Double digestions enabled us to map the polymorphic site 3' to the exon 19.

Antigens↗
PubMed1988

A frequent factor XII gene mutation in Hageman trait.

An additional TaqI restriction site was mapped in intron 2 of the factor XII gene. The site was found only in subjects with total or partial factor XII deficiency and thus represents the true gene lesion or a very tightly linked restriction fragment length polymorphism. The altered gene identified by this marker is present in four (three heterozygotes and one homozygote) of five unrelated Hageman trait subjects from different Italian regions. In the homozygous state the altered gene gives rise to a very marked reduction of factor XII activity. No deletion was found in the deficient factor XII genes.

Blotting, Southern↗
PubMed1988

von Willebrand disease investigated by two novel RFLPs.

Two partial cDNAs for von Willebrand factor (vWF) were used to investigate gene lesions and restriction fragment length polymorphisms (RFLPs) in vW disease (vWd) and normal controls. No gene alteration was detected but two TaqI RFLPs, likely to be intronic and originating from point mutations, were found in the 3' part of vWF gene. The two TaqI RFLPs, identified by the same probe, are informative in approximately 50% of the subjects. Used in combination with two other known RFLPs, they define several haplotypes similarly distributed in vWd and normals. Linkage disequilibrium between loci identified by the RFLPs is present. In a family study the RFLP patterns demonstrate homozygosity for the affected vWF gene in a severe (type III) patient and identify several heterozygous subjects. The RFLPs analysis has been related to the haemostatic values and multimer distribution. In two of the four unrelated patients with severe vWd examined the RFLPs study indicates double heterozygosity for the affected vWF genes.

Genetic Linkage↗
PubMed1988

Parotid sialography and minor salivary gland biopsy in the diagnosis of Sjögren's syndrome. A comparative study of 84 patients.

Parotid sialography and labial salivary gland biopsy were performed in 84 patients with clinical features of primary or secondary Sjögren's syndrome (SS). Signs of focal sialoadenitis were found in 73/84 patients (87%), but only 37 (44%) scored 4 which is considered diagnostic for classic SS. In contrast 55/84 patients (66%) showed some sialographic abnormalities. In patients with both primary and secondary SS, hypergammaglobulinemia and anti-SSA antibodies appeared to be the serological variables more closely related to the entity of either sialographic or histologic abnormalities. In primary SS extraglandular manifestations and recurrent parotid swelling were significantly associated with parotid sialography and labial salivary gland biopsy changes, respectively. Our study indicates that currently both radiological and histological examination are necessary for the assessment of salivary gland involvement in SS.

Antibodies, Antinuclear↗
PubMed1988

Plasmacytoma of the parotid gland. Report of a case and review of the world literature.

Extramedullary plasmacytoma (EP) is a relatively rare neoplasm; about 90% of cases are localized in the head and neck area. EP has been considered a precursor of multiple myeloma but cases showing long disease free intervals or cure by surgery alone have been reported. A research of the world literature pointed out the extremely rare localization of solitary plasmacytoma in the salivary glands. Only 9 cases have been reported until now, 6 in the parotid gland, 2 in the submandibular glands and 1 in both the parotid and submandibular gland.

Humans↗
PubMed1987

RFLP analysis in families with sporadic hemophilia A. Estimate of the mutation ratio in male and female gametes.

To investigate the sporadic occurrence of hemophilia A and to estimate the sex ratio of mutation rates directly, 17 families with isolated cases of the disorder were studied by RFLP analysis and by clotting assays. Three RFLPs, one intragenic and two with close linkage to hemophilia A, were used. In eight families the RFLP study excluded the carrier status of the maternal grandmothers. Since hemostatic studies showed that the eight mothers of these propositi were hemophilia carriers, the origin of the newly mutated genes was inferred from the RFLP patterns: six hemophilic genes derived from the normal maternal grandfathers and two, from maternal grandmothers. The data indicate a higher mutation rate in males than in females, as previously suggested by segregation analysis and coagulation studies. However the sex ratio indicated by the RFLP analysis is lower than previously reported and could explain previous conflicting estimates.

Female↗
PubMed1987

Effects of extracellular fluid volume changes on renal response to low-dose dopamine infusion in normal women.

Dopamine (DA) i.v. infused in a low dose (0.1 microgram/kg/min) in healthy women during sustained hypotonic polyuria, produced different renal functional effects as variations in extracellular fluid volume occurred. (1) In hydro-saline retention (n = 23), induced by desoxycorticosterone acetate treatment, DA produced typical vasodilator and hydro-natriuretic effects (Goldberg, 1972). (2) In hydro-saline depletion (n = 19), induced by diuretic treatment and low dietary sodium intake, DA lost its vasodilator and natriuretic efficacy, manifesting, on the other hand, renal sodium conserving effects mainly dependent on the increase in distal sodium reabsorption and a trend towards afferent arteriolar vasoconstriction. (3) Treatment with prazosin (n = 9) or propranolol (n = 9) in hydro-saline depletion, was efficacious in partly restoring the typical vasodilator and natriuretic effects of DA. Thus, in hydro-saline depletion, DA produced sympathomimetic effects which were sufficiently intense to outweigh those due to activation of specific DA renal receptors.

Adult↗
PubMed1987

c-myc oncogene alterations in human thyroid carcinomas.

A possible role of the c-myc oncogene in the neoplastic transformation of the human thyroid has been investigated. The structure, the methylation status, and the copy number of this oncogene have been analyzed in normal and in tumor thyroid DNAs by Southern blotting technique and dot blot hybridization. Among six carcinomas, four presented abnormal c-myc DNA structure: Three cases showed a mutation in the 5' flanking region of the gene, originating a new EcoRI site; the other case showed a deletion of 5 kb involving the first exon of the gene. This deletion was also observed in the white blood cells of the same individual. In addition, in three carcinomas a double dose of the oncogene has been demonstrated. In all the carcinomas examined, undermethylation of the c-myc oncogene has been observed. These findings suggest that c-myc oncogene alterations might be involved in the malignant transformation of the human thyroids and can be considered as tumor markers.

Base Sequence↗
PubMed1987

Factor XII gene alteration in Hageman trait detected by TaqI restriction enzyme.

A cDNA for coagulation factor XII has been used to investigate the presence of gene lesions and restriction fragment length polymorphisms in two brothers with Hageman trait and their family. A TaqI polymorphic fragment has been found in the two propositi and in 11 members of the paternal lineage. This polymorphism, absent in the normal population, is correlated with the reduction of factor XII activity and enables the identification of heterozygous factor XII deficiency. Factor XII gene deletion as the cause of Hageman trait in this family has been excluded. A restriction map has been constructed, and the TaqI polymorphic site has been localized within the 5' portion of the gene. The mutation in the polymorphic site is probably the cause of the factor XII deficiency. Data suggest the presence of one factor XII gene per haploid genome.

Collodion↗
PubMed1986

Human leukemic K562 cells: suppression of hemoglobin accumulation by a monoclonal antibody to human transferrin receptor.

The receptor for transferrin plays an important role both in tumor cell growth and in hemoglobin synthesis. In this paper, we demonstrate that the monoclonal antibody 42/6 to human transferrin receptor inhibits iron uptake in the human leukemic K562 cell line and suppresses hemoglobin accumulation in K562 cells induced to erythroid differentiation by butyric acid. In contrast, only slight inhibitory effects were observed on cell proliferation of both uninduced and erythroid-induced K562 cells treated with the 42/6 monoclonal antibody. In addition, the 42/6 monoclonal antibody to human transferrin receptor does not inhibit butyric acid-induced accumulation of gamma-globin mRNA. The effect of the 42/6 monoclonal antibody on hemoglobin synthesis appears to be restricted to human cell lines, as murine Friend erythroleukemic cells undergo erythroid differentiation when cultured in the presence of hexamethylenebisacetamide plus the 42/6 monoclonal antibody. The findings reported in this paper suggest (a) a dissociation of iron transport and accumulation of heme molecules from the expression of globin genes and (b) a different requirement of iron uptake by different iron-dependent functions such as cell proliferation and hemoglobin expression.

Antibodies, Monoclonal↗
PubMed1986

Identification of a c-myc oncogene lacking the exon 1 in the normal cells of a patient carrying a thyroid carcinoma.

In this paper we describe an alteration of the c-myc oncogene present in the white blood cells and normal as well as neoplastic thyroid cells of a subject carrying a thyroid carcinoma. Restriction enzyme mapping and hybridization to human c-myc probes specific for different regions of this gene demonstrate that this subject carries, in addition to the normal one, a c-myc oncogene lacking the first exon and part of the first intron. The levels of the c-myc mRNA in thyroid cells of this subject do not show differences with respect to thyroid cells from other subjects. Taken together, these findings indicate that the deletion of the first exon of the c-myc oncogene, in itself, does not produce overtranscription of this oncogene nor hematopoietic malignancies.

Base Sequence↗
PubMed1986

Inhibition of prolactin and aldosterone secretion by the dopamine derivative ibopamine.

In 7 patients with congestive heart failure acute oral administration of ibopamine, a new dopamine derivative, induced a significant decrease in serum prolactin and aldosterone without affecting serum growth hormone or cortisol. The Metoclopramide-induced secretion of prolactin and aldosterone was blunted in 6 patients pretreated with 200 mg ibopamine. The data are consistent with a dopaminergic effect of ibopamine due to a peripheral action, probably on D-2 receptors.

Adult↗