Cytogenetic and molecular studies in a case of acute nonlymphoblastic leukemia (ANLL) are reported in this paper. Bone marrow blasts carried a hypodiploid karyotype with a complex t(6;18;21)(6qter----6p21::21q22----21qter;18qter ----18p11::6p22----6pter; 21pter----21q22::6p21----6p22::18p11----18pte r) and other numerical and structural changes. We studied the organization and the expression of the ETS2 gene which is located on chromosome 21 in order to investigate its possible involvement in the disease.
View Article and Find Full Text PDFDuring a screening program to identify at risk couples for beta-thalassemia first-trimester prenatal diagnosis, we were able to detect, by polymerase chain reaction (PCR) and direct genomic sequencing of the PCR product, a homozygosis for the G-T substitution at the first nucleotide of codon 27 of the delta-globin gene in a pregnant Sicilian woman. The possibility of showing an interaction between delta and beta thalassemia is relevant for a thalassemia prevention program because it may hide a beta-thal carrier state.
View Article and Find Full Text PDFSera from 209 dialysis patients were tested for antibodies to hepatitis C virus (anti-HCV) by a 2nd generation enzyme-linked immunoassay (ELISA 2) using nonstructural and core antigens. Confirmation of reactivity was obtained by a 2nd generation immunoblot assay (RIBA 2) for antibodies to 4 separate antigens (5-1-1, c100-3, c33c, c22-3). ELISA 2 was positive in 99 sera, 95 of which were confirmed by RIBA 2, thus accounting for an anti-HCV prevalence of 45.
View Article and Find Full Text PDFPrenatal 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.
View Article and Find Full Text PDFThe Authors examine the various radiological techniques indispensable to pre- and postsurgical evaluation in endosseous dental implantology. Of each technique the choice criteria and diagnostic potentialities are suggested.
View Article and Find Full Text PDFSome products, for bone's syntethic implants (resorbable or not), are treated in the first part, in particular way the beta-TCMP (resorbable bone's integrator) for valueing its good validity. In the second part the Authors show some clinic cases treated with beta-TCMP and the obtained results. Then generic indications around the use of the product have been showed for the good answer in the bone's rigeneration.
View Article and Find Full Text PDFWe have constructed fusion genes comprised of gamma and beta globin elements and globin sequences linked to neomycin resistance (neoR) genes to define the cis acting sequences responsible for developmental stage-specific expression and induction of fetal globin genes in embryonic-fetal erythroleukemia K562 cells. The results indicate that the gamma promoter is required for proper initiation of transcription. However, the accumulation of gamma globin transcripts in response to hemin induction requires the additional presence of either gamma intervening sequence 2 or the 3' enhancer element of the beta globin gene.
View Article and Find Full Text PDFA new sulfur-containing cyclic imino acid, cystathionine ketimine, has been detected in bovine cerebellum by gas chromatography, gas chromatography-mass spectrometry, and high pressure liquid chromatography procedures. Gas chromatography and gas-mass analyses are based on derivatization of endogenous cystathionine ketimine with diazomethane after a simple enrichment procedure. The high pressure liquid chromatography procedure takes advantage of the selective absorbance at 380 nm of the phenyl isothiocyanate-ketimine interaction product.
View Article and Find Full Text PDFFive hundred cordocenteses were performed between 12 and 21 weeks. The indications were thalassaemia (386), rapid karyotyping (97), feto-maternal allo-immunization (10), rubella (6), and toxoplasmosis (1). One hundred and ten pregnancies underwent termination on the basis of the result, while 20 of the 370 pregnancies intended to continue were lost to follow-up.
View Article and Find Full Text PDFA simple and rapid method has been developed for fast selective determination of residues of methyl bromide in food products. The method is based on the use of a GC/MS computer-aided system equipped with a headspace. Analysis of methyl bromide was carried out directly on the food products without preliminary extraction of fumigant.
View Article and Find Full Text PDFThe clinical and hematological features of 202 Sicilian subjects with sickle cell disease are reported, 41 being homozygous for beta s (beta s beta s), 64 with beta zero thal beta s (beta zero beta s), and 97 beta+ thal beta s (beta+ beta s). Analysis of the findings showed that the disease observed in Sicilians is of intermediate severity and falls between the severe form observed in patients of African origin and the milder one seen in subjects of Arabian origin.
View Article and Find Full Text PDFIn summary, our analysis indicates that important sequences for the proper initiation of fetal gene transcription in fetal cells are located in the gamma-globin [sequence: see text] promoter. These sequences are sufficient for tissue-specific expression but not induction in K562 cells. Sequences in the gamma-globin IVS-2 and the beta-globin 3' enhancer increase gamma beta and gamma-Neo transcripts when cells containing these genes undergo erythroid maturation as measured by induction with hemin.
View Article and Find Full Text PDFThe aim of our study was to evaluate the possibility of recording also sub-clinical alterations of the Central Nervous System during chronic uremia by means of the study of Pattern-Reversal Visual Evoked Potentials (P-R V.E.Ps) and Brainstem Acoustic Evoked Potentials (B.
View Article and Find Full Text PDFA microorganism antigenically identified as Legionella micdadei but showing a cellular fatty acid profile distinct from that described previously for this species and more similar to that of L. bozemanii has been studied by phenotypic characterization, crossed immunoelectrophoresis, gas-liquid chromatography, and transmission electron microscopy. Although the phenotypic characters, the crossed immunoelectrophoresis, and the ultrastructural features were similar to those of L.
View Article and Find Full Text PDF