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Biomedical subjects

M Marino

Publications and source records attributed to M Marino.

At least 19 recordsLinked to original sources
PubMed1995

The great heterogeneity of thalassemia molecular defects in Sicily.

This paper reports the results of 1428 beta-thalassemia chromosomes studied in Sicily during a hemoglobinopathy control program starting in 1983. Molecular screening was performed by direct restriction enzyme analysis, allele specific oligonucleotide (ASO) hybridization, reverse dot blot analysis (RDB) and, for the rare or new mutations, by direct sequencing of polymerase chain reaction (PCR) products. Using these approaches 1410 (98.7%) out of 1428 beta-globin gene defects were characterized, involving 22 different beta-thalassemia mutations. Three of these were present at high frequency (beta(0)39, IVS1, 110 and IVS1,6); the other beta-globin gene defects were found at lower frequency. In the latter, we found a smaller group of mutations at a frequency lower than 10% (IVS1, 1, IVS2, 745, beta S) and a larger one at a frequency lower than 2% [-87, IVS1,2, IVS2,1, fr 6, fr 8 (-AA), fr 44, fr 76, -101, IVS1, 116, IVS1, 3'end G-C, IVS1,5 G-A, IVS1,5 G-C, cod 30, Lepore, delta beta, beta C]. The possible origin of this very large number of mutations is discussed, taking into account the historical point of view. Moreover, this approach has made a first trimester prenatal diagnosis program possible in our region in practically all cases, with a great improvement in general thalassemia management.

DNA↗
PubMed1993

Identification of a new receptor subtype for tumor necrosis factor-alpha.

Two distinct receptors, which bind both tumor necrosis factor-alpha and tumor necrosis factor-beta (TNF-alpha and TNF-beta), have been previously identified and cloned from transformed cells. The present study identifies a novel receptor subtype in normal human liver which binds TNF-alpha but not TNF-beta. TNF-alpha but not TNF-beta competes for 125I-TNF-alpha binding and incorporation into affinity-labeled complexes in human liver plasma membranes (HLPM). Antisera to the cloned receptors competed for 125I-TNF-alpha binding to plasma membranes isolated from various transformed cell lines but not to HLPM. However, mRNAs corresponding in size to both known TNF receptors were detected in liver RNA, making it likely that post-transcriptional modifications account for the TNF-alpha specificity of HLPM. These observations suggest that the effects of TNF-alpha and TNF-beta on some normal tissues may be more distinct than previously realized.

Antibodies, Monoclonal↗
PubMed1992

Signal transduction during liver regeneration: role of insulin and vasopressin.

The relationship between cell proliferation and inositol lipid turnover has been studied by comparing the steady state of inositol derivative metabolism in quiescent and regenerating rat hepatocytes isolated at 4 h (G1 phase of first cell cycle) and 24 h (onset of M phase) after partial hepatectomy. The effect of two hormones able to regulate hepatic regeneration, insulin and vasopressin, has been considered, and the results can be summarized as follows: (i) at 4 h after partial hepatectomy, the precursor incorporation into inositol polyphosphates and the particulate phospholipase C activity increase with respect to quiescent hepatocytes, whereas the content of 11, 4, 5P3 does not change, suggesting an increased turnover of this molecule in this step of cell cycle priming; (ii) 24 h after partial hepatectomy, the radioactivity linked to IP3 and IP4, as well as soluble and particulate phospholipase C activity, and IP3 content increase, suggesting the presence, at the onset of M phase, of second messenger accumulation; (iii) only 24 h after partial hepatectomy, the inositol derivative metabolism is affected by vasopressin; and (iv) insulin exerts a modulatory role on inositol polyphosphate production without involving membrane-bound PLC activity or phosphoinositide hydrolysis. These data suggest that inositol-derived signal molecules are associated with hepatic regeneration; moreover, the metabolic pathway of such compounds seems to be regulated so that only specific inositol phosphates are present in each step of the cell cycle.

Animals↗
PubMed1992

Cytogenetic survey of 80 patients with acute nonlymphocytic leukemia.

The authors report a cytogenetic survey of 80 patients with acute nonlymphocytic leukemia. The prognostic value of chromosome aberrations has been evaluated with three methods. The first one showed that patients with NN or AN bone marrow cellularity have a significantly better prognosis than those with AA cellularity; the second method confirmed the relatively good prognosis for patients with t(8;21) and abnormal 16 and a poor one for those with rearrangements of chromosomes 5 and/or 7. The authors also noted, surprisingly, that patients with hyperdiploidy had a significantly poorer prognosis than those with hypodiploidy and especially pseudodiploidy. The third method showed that patients with very complex karyotypes and a worse outcome than those with simple changes. Finally, they discuss the prognostic value of unusual and/or undeciphered chromosome changes detected in 18 patients, with a mean survival of 9.6 months, showing that these changes have a negative prognostic significance.

Antineoplastic Combined Chemotherapy Protocols↗
PubMed1991

Members of the zinc finger protein gene family sharing a conserved N-terminal module.

We report the isolation of human members of a sub-family of structurally related finger protein genes. These potentially encode polypeptides containing finger motifs of the Krüppel type at the C-terminus, and a conserved amino acid module at the N-terminus; because of its invariant location the latter is referred to as finger preceding box (FPB). The FPB, detected also in previously described finger proteins from human, mouse and Xenopus, extends over approximately 65 amino acids and appears to be composed of two contiguous modules: FPB-A (residues 1-42) and FPB-B (residues 43-65). The latter is absent in some of the members analyzed. Elements A and B and the zinc finger domain are encoded by separate exons in the ZNF2 gene, a human member of this sub-family. The positioning of introns within this gene is remarkable. One intron flanks and a second interrupts the first codon of the FPB-A and FPB-B modules, respectively. A third intron occurs a few nucleotides downstream of FPB-B marking its separation from the remainder of the coding sequences. This organization, together with the absence of FPB-B in some cDNAs, supports the hypothesis that mRNAs encoding polypeptides that include one, both or none of the FPB-A and FPB-B modules may be assembled through alternative splicing pathways. Northern analyses showed that members of this sub-family are expressed as multiple transcripts in several cell lines. The sequences of distinct cDNAs homologous to the ZNF2 gene indicate that alternative splicing events adjoin either coding or non coding exons to the FPB sequences.

Amino Acid Sequence↗
PubMed1991

Prenatal diagnosis of haemoglobin disorders by cordocentesis at 12 weeks' gestation.

Prenatal diagnosis of haemoglobin disorders is accepted to be a useful procedure to avoid births of infants with homozygous diseases. Advances in sampling and molecular techniques, such as polymerase chain reaction (PCR) and chorionic villus sampling (CVS), have made earlier and safer first-trimester prenatal diagnosis possible. However, these procedures need previous studies of at-risk couples, which can be very time-consuming when a number of different beta-thalassaemia mutations occur in the region. We describe the possibility of making a first-trimester prenatal diagnosis by cordocentesis and fetal blood analysis at the 12th week of gestation. We found no statistically significant difference (p greater than 0.05) between beta/gamma values in fetuses at the 12th and 18th weeks of gestation. In seven affected fetuses aborted at the 12th week of gestation, the diagnosis was confirmed in all cases by PCR analysis. These findings suggest that early cordocentesis could be an alternative procedure to CVS and PCR analysis.

Female↗
PubMed1991

Seasonal pattern of glycosylation in frog liver.

The circannual behaviour of glycosylation and protein synthesis in frog liver slices was studied following the incorporation of 3H-galactose and 14C-glucosamine into glycolipids and glycoproteins and 3H-leucine into proteins. The activity of two enzymes the galactosyl-transferase and the N-acetyl-glucosaminyl-1-P-transferase was determined. The incorporations of both sugars into the soluble fraction and into the lipid extract present a maximum during the spring-summer period. The incorporation into the protein fraction displays a different pattern: 14C-Glucosamine and 3H-leucine incorporation increases from winter to a maximum in autumn; the incorporation of 3H-Galactose has a sharp peak during spring. The pattern of glycosyltransferase activities is similar to the pattern of incorporation of the two saccharides into proteins, indicating these enzymes as important control points for glycosylation in Anurae.

Animals↗
PubMed1991

Isolation and expression analysis of a human zinc finger gene (ZNF41) located on the short arm of the X chromosome.

We have isolated a novel human zinc finger gene, ZNF41, from a human X-chromosome-specific library. Nucleotide sequence analysis reveals that ZNF41 potentially encodes a polypeptide featuring an array of 18 contiguous zinc fingers of the C2H2 type. Multiple polyadenylated transcripts homologous to ZNF41 are present at different levels in several distinct cell types. Southern analyses of somatic cell hybrids containing either intact or rearranged X chromosomes confirm the genomic origin of the isolated gene and establish that it is localized between Xcen and Xp22.1.

Amino Acid Sequence↗
PubMed1991

From high school to college: changes in women's self-concept and its relationship to eating problems.

A longitudinal panel study of a sample of college women was undertaken to assess changes in women's self-concept from high school to college and during their college years and the relationship between changes in self-concept ratings and eating disorders. Self-concept was measured at Time Change 1 (senior year of high school to sophomore year of college), Time Change 2 (sophomore year of college to senior year of college), and Time Change 3 (senior year of high school to senior year of college) using Brownfain's (1952) self-rating scale. Eating behavior in college was measured at two points, sophomore and senior year, by the Eating Attitudes Test (Garner, Olmsted, Bohr, & Garfinkel, 1982). The women were placed into three eating groups: Group 1 (eating pattern becomes or remains abnormal). Group 2 (eating pattern gets better), and Group 3 (eating pattern remains normal). Results revealed that all women's self-concept ratings declined in Time 1 with only a slight increase on a few traits in Time 2. Analysis of variance (ANOVA) showed that Group 1 experienced a significant overall decline in self-concept ratings between Time 1 and Time 3 compared with Group 2 and Group 3. Group 2 reported significantly greater increases in assertiveness at Time 1 compared with Group 3. We suggest an interactional model for understanding the relationship between self-concept and eating problems.

Adolescent↗
PubMed1990

Variations of hepatic dolichols during rat development.

The content and the percent distribution of dolichol and dolichyl phosphate homologues were measured by high-performance liquid chromatography in perinatal rat livers. Short dolichol chains and no dolichyl phosphate are detectable in the liver at foetal stages; dolichol content progressively increases during liver development. A good correlation is observable between the changes of the dolichol, dolichyl phosphate and the activity of dolichyl-phosphate phosphatase.

Animals↗
PubMed1990

Age-related changes of glycosylation pattern in isolated rat hepatocytes.

The glycosylation pattern in isolated rat hepatocytes during pre- and post-natal development and senescence has been studied by following: the [14C]glucosamine and [3H]galactose incorporation into cellular glycoproteins and glycolipids and the activity of two microsomal enzymes, N-acetyl-glucosaminyl-1-P transferase and galactosyl transferase. The data show a lowered precursor incorporation into lipids and proteins in the fetus, newborn and old rats versus the adult. Only the galactosyl transferase activity is enhanced on the 19th and 22nd day of fetal life. The glucosamine and N-acetyl-glucosamine content in both soluble and protein bound fractions was increased, while the galactose content in lipids and proteins decreased in the fetal stage. The different sugar composition of the proteins, and the decreased glucosamine and galactose incorporation into the proteins, observed in the fetus, newborn and old rat, suggest a post-translational modification which may cause alterations in functions usually mediated by glycoproteins.

Aging↗
PubMed1990

Fine needle aspiration cytology of medullary thyroid carcinoma: a review of 18 cases.

A series of 18 consecutive medullary thyroid carcinomas (MTC) diagnosed by fine needle aspiration cytology (FNAC) is described. The most important diagnostic cytologic criteria were the dispersed cell pattern, the polygonal appearance of the cells, binucleated cells and the presence of amyloid. Other less common cytologic features are reported and the variable microscopic appearance of MTC is pointed out. The possibility that this cytologic variability of MTC may be by itself an important diagnostic feature is proposed.

Adolescent↗
PubMed1989

Some aspects of glycosylation in rat liver during pregnancy.

The aim of the present report was to analyze the pattern of glycoprotein synthesis in rat liver on 19th and 22nd day of pregnancy by following the incorporation of 14C-glucosamine and 3H-galactose into isolated rat hepatocytes, the N-acetylglucosaminyl-1-P and galactosyl transferase activities, and the liver content of dolichol and dolichyl-phosphate. The data obtained show a decrease of precursor incorporation into glycoproteins during the last period of pregnancy; this decrease is independent of enzyme activities. The dolichol content increases and the dolichyl-phosphate content, usually considered as rate limiting for glycosylation, decreases. These results, present in other conditions of proliferation and differentiation of rat liver, could explain the differences in membrane organization, the increase of hepatic proteolysis and the alteration in secretory activity during the last phase of gestation.

Animals↗
PubMed1988

Frog liver dolichols: separation and quantitative determination related to seasonality.

1. The liver of female frogs shows a significantly higher dolichol content in May (134 micrograms/g) than in November (90 micrograms/g). The male frog liver (134 micrograms/g May; 119 micrograms/g November) does not show any significant change. 2. The rat liver does not show any significant change in dolichol content from May to November (30 micrograms/g). 3. The dolichyl-phosphate level was the same in male and female frog livers and in the rat liver. 4. Data is given of the distribution of dolichols according to the number of their isoprene residues.

Animals↗
PubMed1988

Primary endobronchial actinomycosis.

A male farmer referred for fever, cough and haemoptysis, presented, at bronchoscopic examination, a large mass occluding the middle lobe bronchus. No lung involvement was visible on chest X-ray. Histological examination showed an actinomycotic granule in the bronchial submucosa. The histological findings indicate that aspiration of contaminated material from the upper alimentary tract may have caused the disease.

Actinomycosis↗