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Biomedical subjects

F Bernardi

Publications and source records attributed to F Bernardi.

At least 253 records · Page 14Linked to original sources
PubMed1985

beta (+)-Thalassaemia in the Po river delta region (northern Italy): genotype and beta globin synthesis.

Six beta(+)-thalassaemic patients from the Po river delta region have been studied. Using synthetic oligonucleotides as specific hybridisation probes, the beta(+) IVS I mutation (G----A at position 108) was demonstrated. This lesion and the enzyme polymorphism pattern in the subjects examined are the same as have been described for other Mediterranean beta(+)-thalassaemias. Antenatal diagnosis through DNA analysis of beta(+)-thalassaemia is therefore possible. The production of beta globin in a beta(+), homozygote and in a beta (+), beta(0) 39 (nonsense mutation at codon 39) double heterozygote is approximately 20% and 10% respectively of total non-alpha globin synthesis. Despite some overlapping of the results, similar beta globin synthesis levels have been obtained in 43 beta(+)-thalassaemia patients. This suggests that in the Po river delta region the most common thalassaemic genes are beta(0) 39 and beta(+) IVS I.

Autoradiography↗
PubMed1985

Gene deletion in an Italian haemophilia B subject.

DNA from 20 Italian haemophilia B patients was analysed by the Southern blotting technique and hybridisation to a factor IX cDNA probe. A large deletion of factor IX gene was detected in one patient with antibodies to the infused factor; the EcoRI pattern of the other 19 subjects examined was normal.

Chromosome Deletion↗
PubMed1984

Complete sequence of pSC101.

We have completed the pSC101 sequence. The coding capacities of the newly sequenced regions show the presence of two large open reading frames close to the oriT region. Their size and localization suggest that these polypeptide chains could be involved in the transfer process of pSC101.

Base Sequence↗
PubMed1984

Human leukemia K562 cells: relationship between hemin-mediated erythroid induction, cell proliferation and expression of c-abl and c-myc oncogenes.

We have studied the expression of the c-myc and c-abl oncogenes in two human leukemic K562 cell lines which do express hemoglobin genes retaining a differential rate of cell proliferation. Our data indicate that in hemin-induced K562(S) cells the expression of c-abl oncogene decreases and appears to be related to a decrease in the proliferation capacity rather than to the activation of differentiated functions. The K562(hC) cell line, which produces large amounts of Hb Gower 1 retaining an efficient rate of cell proliferation, expresses indeed the c-abl oncogene at high level.

Cell Division↗
PubMed1984

Human leukemic K562 cells: differential effects of 5-azacytidine on DNA methylation of epsilon-, gamma-globin and 7SL RNA genes.

5 Azacytidine ribonucleoside (5 Aza CR), greatly enhances erythroid differentiation of the K562(h) cell line, with a sharp increase of embryonic and fetal globin gene expression. This phenomenon is correlated with the undermethylation of gamma-globin but not of epsilon-globin, as the epsilon-globin gene is already extensively undermethylated before 5AzaCR induction. By contrast no variations in both DNA methylation and expression are observed in 7SL RNA genes.

Azacitidine↗
PubMed1984

Atypical deletions generated by mutated IS102 elements.

The element IS102 potentially codes for two polypeptide chains. We have introduced several mutations in the larger one near the COOH terminus and determined the residual ability of the mutated elements to generate deletions in order to assign a role to this polypeptide chain. We show that in these elements, deletions still occur, although at a reduced level, but that in all cases examined so far the ends of the element are no longer recognized as the fixed endpoint of IS-mediated deletions, even though some other structural features of normal deletions formation are still present.

Bacteriophage lambda↗
PubMed1984

Neonatal screening for cystic fibrosis by dried blood spot trypsin assay. Results in 47 127 newborn infants from a homogeneous population.

47 127 newborn infants from the Emilia-Romagna region were screened for cystic fibrosis by dried blood spot trypsin assay. In the initial 12 099 subjects screened with a non-standardized method, two children with cystic fibrosis were observed. Of the remaining 35 028 newborn infants, 299 showed high immunoreactive trypsin values; retesting revealed persistent elevation in 11. Sweat testing confirmed cystic fibrosis in 6 subjects and was normal in 5. Clinical monitoring of these 5 children has, as yet, shown no pathological signs. No false-negative test results have yet been identified. In our region, cystic fibrosis frequency would appear to be 1 case every 5 890 newborn infants. Our study confirms that elevated immunoreactive trypsin is characteristic of newborn infants with cystic fibrosis and that screening by determination of immunoreactive trypsin is of great benefit since it allows early diagnosis and a rational approach to therapy.

Cystic Fibrosis↗
PubMed1983

[Inhibition of heme biosynthesis in erythroid precursors (BFU-e) isolated from human peripheral blood: effects on globin synthesis].

We studied the relationship between heme accumulation and globin synthesis in human erythroid precursors which were stimulated by 2 I.U. of erythropoietin in semi-solid cultures (1% methyl-cellulose, 20% fetal calf serum) and treated with 6-9 micrograms/ml of desferrioxamina (DF), a potent inhibitor of heme synthesis (6). Heme accumulation was detected by specific reaction with benzidine (4), globin synthesis by CM-cellulose column chromatography. Our results demonstrate that globin gene expression occurs in DF-treated erythroid cells which do not accumulate heme molecules. As heme does affect translation and stability of globin mRNA (10) our system might be suitable for studies focused on pathological alterations of erythropoiesis associated with the presence of unstable globin mRNAs and/or unstable globins.

Chromatography, Ion Exchange↗
PubMed1983

Effect of estrogens on dopamine autoreceptors in male rats.

There is biochemical and pharmacological evidence indicating that estrogens are capable of substantially modulating post-synaptic dopamine (DA) receptor sensitivity in experimental animals. Recent electrophysiological data, showing that estrogens significantly attenuate the ability of apomorphine to inhibit the firing activity of type B dopamine neurons in the rat substantia nigra, suggest that these hormones may also induce subsensitivity of DA autoreceptors. In accord with this hypothesis, estrogen-treated rats showed no marked decrease of motility counts when challenged with apomorphine (20-50 micrograms/kg) from 24 to 72 h after the last hormone administration. Similarly, the decrease of dihydroxyphenylacetic acid (DOPAC) levels induced by apomorphine (20 micrograms/kg) in the caudate nucleus, in oil-treated control rats was almost completely counteracted by estrogen treatment. Dopamine agonists, such as 2-alpha-bromocriptine, piribedil, 3 hydroxyphenylpropylpiperidine and n-propylnorapomorphine, failed to induce hypomotility when administered to estrogen-treated rats. These behavioural and biochemical results, along with the electrophysiological data, indicate that estrogen treatment is able to induce hyposensitivity of DA autoreceptors. These results may be relevant to the clinical findings indicating that the activity of dopamine receptor agonists varies in relation to sex or hormonal treatments.

3,4-Dihydroxyphenylacetic Acid↗
PubMed1983

[Construction of a genome library from a beta-0-thalassemic individual from Ferrara: characterization of clones containing beta globin genes].

A library of genomic DNA was prepared from a patient with beta o Ferrara thalassaemia: random human DNA fragments (15 - 20 Kb) have been joined to phage lambda vectors and cloned has viable phage particles (4). 4x10(5) phages have been screened for their content in beta globin gene sequences, using a human beta cDNA plasmid (5) as hybridization probe. Five positive clones have been isolated and characterized by restriction endonuclease cleavage analysis and by the hybridization experiments. The results obtained allow the precise localization of the human fragments inside the beta like globin gene cluster (6). The comparison of the thalassaemic fragments with the normal DNA (6 - 7) shows two different restriction endonuclease sites, for Xba I and Eco RI respectively, downstream from the human beta globin gene.

Cloning, Molecular↗
PubMed1983

Displacement of T lymphocytes with the 'Helper/Inducer' phenotype from peripheral blood to lymphoid organs in untreated patients with Hodgkin's disease.

A panel of previously characterized monoclonal antibodies: B67.6, OKT3, OKT4, B53.4, Leu3a, OKT8, Leu2a, OKM1, M12 and B52.1 were used as a probe to assess mononuclear cells in peripheral blood (PB), lymph nodes (LN) and spleens of untreated patients with Hodgkin's disease (HD). The mean % and absolute number of T lymphocytes were significantly decreased in PB of HD patients when compared with control values. Reduction of circulating T lymphocytes reflected the selective loss of cells showing the 'helper/inducer' ('H/I') phenotype. In fact, a lower number of these cells was demonstrated in HD patients with advanced disease and, even though to a lesser extent, in those with localized disease. In contrast, decreased values of T cells with the 'cytotoxic/suppressor' ('C/S') phenotype were only found in patients with advanced disease, showing pan-lymphocytopenia. Unlike PB, LN and spleens involved by HD usually showed increased %s of T lymphocytes, especially of those possessing the 'H/I' phenotype. The displacement of T lymphocytes with 'H/I' phenotype from PB to lymphoid organs further supports the possibility of a chronic immune response against abnormal cells or unknown antigens in the affected organs of patients with HD.

Adolescent↗
PubMed1983

Neonatal screening for congenital adrenal hyperplasia.

Capillary blood samples from 42930 infants born in the Italian region of Emilia-Romagna were collected for 17-hydroxyprogesterone radioimmunoassays on days 2, 3, 4, 5, 6, and 7, or between days 7 and 15 of life. A microfilter paper method modified from that of Pang et al.1 was used for this assay. Pathologic values of 17-hydroxyprogesterone were found in 5 infants giving an incidence in this homogeneous Caucasian population of 1:8586. We also investigated 17-hydroxyprogesterone values in relation to the day of sampling and the possible correlation between 17-hydroxyprogesterone values and birthweight and gestational age. We concluded that neonatal screening for congenital adrenal hyperplasia caused by 21-hydroxylase deficiency was possible by this method and that the infants' maturity and the particular day of collection of the samples affect the values but not the validity of the screening.

17-alpha-Hydroxyprogesterone↗
PubMed1982

Duplication of the short arm of chromosome 9. Analysis of five cases.

Five females with duplication of the short arm of one chromosome 9 are reported, one tetrasomic and four trisomic for 9p. The tetrasomy is due to an isochromosome 9p while the trisomies are due in one case to an intrachromosomal duplication present in lymphocytes but not in fibroblasts, two are secondary to translocations with chromosomes 22 and 13 respectively, and one is a mosaic with a cell line with an additional deleted chromosome 9 present in lymphocytes and fibroblasts. This analysis indicates that duplications 9p may result in impairment of ovarian function. The phenotypic differences between trisomy and tetrasomy 9p are discussed.

Abnormalities, Multiple↗
PubMed1982

Neonatal screening for congenital adrenal hyperplasia using a microfilter paper method for 17-alpha-hydroxyprogesterone radioimmunoassay. Experience gained from the study of 22,233 cases.

We examined 22,233 infants born in Emilia-Romagna (Italy). Capillary blood samples for 17-OH-progesterone assay were collected on the 3rd, 4th, 5th, 6th or 7th day of life on filter paper of the same type used for the screening of aminoacidopathy and hypothyroidism. 17-OH-progesterone values were determined using a micromethod modified from that of Pang and co-workers. 20 pg/disk was considered as a threshold value and called for a second assay, which was performed in 0.18% of the cases. Pathologic values of 17-OH-progesterone were confirmed in the serum of 4 neonates. In our population the incidence of 21-hydroxylase deficiency was found to be 1 out of 5,558 cases.

Adrenal Hyperplasia, Congenital↗