Biomedical subjects

F Salvatore

Publications and source records attributed to F Salvatore.

135 records · Page 8Linked to original sources

PubMedDate not supplied

Electrophoretic behavior and partial characterization of disease-associated serum forms of gamma-glutamyltransferase.

We have recently devised an improved procedure for the rapid electrophoretic separation of multiple forms of serum gamma-glutamyltransferase (GGT). This procedure is based on the separation on cellulose acetate strips, usually employed for lipoprotein electrophoresis, followed by visualization with a fluorescent reagent. The method is highly sensitive and the fractions are more clearly resolved than with other procedures. Reference intervals have been evaluated in the sera from 142 healthy subjects and the patterns (two GGT forms comigrating with alpha 1 and alpha 2-globulin) are reproducible. In 150 sera from patients with various hepatobiliary diseases (including neoplasias), acute pancreatitis and non liver-involving neoplasias, we observed some disease-specific GGT forms: an albumin comigrating enzyme (Alb-GGT) specific of liver neoplasia; a gamma-globulin comigrating GGT (gamma-GGT) and a nonmigrating isoform (dep-GGT) both specifically associated to extrahepatic jaundice. Multiple lipoprotein fraction precipitation showed that beta-, gamma- and dep-GGT are complexes between GGT and low density lipoprotein and very low density lipoproteins (LDL + VLDL), and that some of the alpha 1-GGT from cirrhotic patients is a complex between GGT and high density lipoprotein (HDL). GGT fractions from normal subjects and Alb-GGT from patients with liver neoplasia do not appear to be complexed with lipoproteins.(ABSTRACT TRUNCATED AT 250 WORDS)

Biomarkers, Tumor↗

PubMedDate not supplied

Genetic typing of Corallium rubrum.

Corallium rubrum taxonomy is based on morphologic criteria; little is known about its genome. We set up a rapid, easy method based on amplified fragment length polymorphism to characterize the genetic patterns of C. rubrum in an attempt to understand better the evolutionary relations between species from diverse geographic areas and to help define migration patterns. Applying this procedure to C. rubrum specimens from Spain and Italy, we identified 6 AFLP amplification fragments common to the 4 coral populations studied and 4 fragments that differentiated between these populations. Using this characterization we were able to plot a "genetic identity card" of this commercially harvested species, which is also a marker of pollution.

Animals↗

PubMedDate not supplied

Novel six-nucleotide deletion in the hepatic fructose-1,6-bisphosphate aldolase gene in a patient with hereditary fructose intolerance and enzyme structure-function implications.

Hereditary fructose intolerance (HFI) is an autosomal recessive human disease that results from the deficiency of the hepatic aldolase isoenzyme. Affected individuals will succumb to the disease unless it is readily diagnosed and fructose eliminated from the diet. Simple and non-invasive diagnosis is now possible by direct DNA analysis that scans for known and unknown mutations. Using a combination of several PCR-based methods (restriction enzyme digestion, allele specific oligonucleotide hybridisation, single strand conformation analysis and direct sequencing) we identified a novel six-nucleotide deletion in exon 6 of the aldolase B gene (delta 6ex6) that leads to the elimination of two amino acid residues (Leu182 and Val183) leaving the message inframe. The three-dimensional structural alterations induced in the enzyme by delta 6ex6 have been elucidated by molecular graphics analysis using the crystal structure of the rabbit muscle aldolase as reference model. These studies showed that the elimination of Leu182 and Val183 perturbs the correct orientation of adjacent catalytic residues such as Lys146 and Glu187.

Amino Acid Sequence↗

PubMedDate not supplied

A case of discordance between genotype and phenotype in a malignant hyperthermia family.

Malignant hyperthermia (MH) is an inherited autosomal dominant pharmacogenetic disorder and is the major cause of anaesthesia-induced death. Malignant hyperthermia susceptibility is usually diagnosed by the in vitro contracture test (IVCT) performed on fresh muscle biopsies exposed to caffeine and halothane, respectively. Around 50% of affected families are linked to the ryanodine receptor (RYR1) gene. The human RYR1 gene maps to chromosome 19q13.1 and encodes a protein that associates as a homotetramer and acts as a calcium-release channel from the sarcoplasmic reticulum. To date, 17 mutations have been identified in the coding region of the RYR1 gene and appear to be associated to the MH-susceptible phenotype. Here we describe a rare case of discordance between genotype (characterised by the presence of the Arg614Cys mutation in the RYR1 gene) and MH-normal typed phenotype. Although the IVCT remains a very reliable procedure for the assessment of MH status, genetic data can provide in some cases an additional aid to clinical diagnosis.

Caffeine↗

PubMedDate not supplied

[Complications of the nephrotic syndrome].

We described the case of a 27-year-old man presenting pulmonary embolism and hyperlipidaemia. Subsequent investigation revealed that he was affected by renal vein thrombosis and nephrotic syndrome due to membranous glomeruloephritis. Nephrotic syndrome complications are numerous and may represent the first sign of the syndrome. Among these complications we find thromboembolism, infections, negative nitrogen balance and renal failure. There are very few prognostic indicators that enable the prediction of nephrotic syndrome complications. Recent advances in the understanding of alterations in the metabolism of circulating and somatic proteins associated with proteinuria and hypooncotic condition have led to new insights into the pathophysiologic processes associated with the syndrome.

Adult↗

PubMedDate not supplied

Human aldolase A gene: structural organization and expression in tumor cell lines.

The structural intron/exon organization of the cloned human aldolase A gene is reported. The gene is composed of twelve exons, including the coding and the 5' and 3' non-coding regions. Four mRNAs, different at the 5' non-coding region, are transcribed from this gene in a tissue-specific manner. The study of the expression of aldolase A gene in normal liver and neoplastic cell lines demonstrated the resurgence of foetal pattern of expression in all tumor liver cell lines and HeLa cells, thus supporting the foetalism theory for this gene system.

Carcinoma, Hepatocellular↗

PubMedDate not supplied

Gamma-glutamyltranspeptidase isoenzyme forms and lipoproteins in normal and pathological sera.

The molecular nature of serum (from normal subjects and from patients affected by various hepatobiliary diseases) gamma-glutamyltranspeptidase (GGT) isoenzymes has been studied by selective lipoprotein precipitation. Some fractions co-precipitate with LDL + VLDL (pre-beta-, beta-, beta/gamma-, gamma-, and dep-GGT fractions) or with HDL (partial precipitation of alpha 1-GGT in cirrhosis). Alpha 1-GGT + alpha 2-GGT in normal subjects, and Alb-GGT did not precipitate with either of the precipitation treatments. Total GGT and its isoenzymes were stable at 4 degrees C and at -20 degrees C for at least 20 days, with the exception of Alb-GGT which at -20 degrees C decreased by 20%. The percentage of GGT associated with LDL + VLDL appeared to be a possible marker to discriminate liver tumors from cirrhosis. A cut-off value of 20 U/L of this marker yielded a diagnostic sensitivity of 87% and a diagnostic specificity of 85%.

Cholestasis↗

PubMedDate not supplied

Isolation of the human glyceraldehyde-3-phosphate dehydrogenase gene by hybridization with synthetic oligonucleotides.

By screening a human genomic library from human lymphocyte DNA cloned in EMBL 3 vector with synthetic oligonucleotides homologous to the human GAPD cDNA 3'-non-coding region as probes, a unique lambda recombinant clone (EMBL-G5) was isolated at the Tm value. Preliminary restriction analysis and sequence data proved that this recombinant clone is the human structural gene for the glyceraldehyde- 3-phosphate dehydrogenase.

Bacteriophage lambda↗

PubMedDate not supplied

The use of receiver operating characteristic (ROC) curves analysis in the evaluation of the diagnostic efficiency of serum pseudouridine as a tumor marker.

The biochemical parameters used in this study were: (1) serum pseudouridine, expressed as nmols/mL; (2) pseudouridine index, expressed as mol to mol ratio of serum pseudouridine versus serum creatinine concentration. The receiver operating characteristic (ROC) analysis has been used to exemplify the selection of discriminant values or "cut-off points" to maximize the diagnostic utility of a biochemical tumor marker, serum pseudouridine. This marker has been used in a variety of group population samples, i.e., normal subjects, subjects affected by several nonneoplastic diseases, subjects with neoplastic disorders in less advanced or more advanced stages, and finally in a sample population of patients affected by lymphomas and leukemias of different types. An analysis of the relative ROC curves allowed the selection of cut-off values that maximize the diagnostic efficiency or, alternatively, the diagnostic sensitivity or the diagnostic specificity for pseudouridine parameters, and has allowed the comparison of the two tests to answer the same clinical question.

Biomarkers, Tumor↗