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Biomedical subjects

L Pagano

Publications and source records attributed to L Pagano.

At least 91 records · Page 5Linked to original sources

Aggressive chemotherapy for acute leukemia relapsed after bone marrow transplantation: a second chance?

Eight patients, 5 with acute non lymphoid leukemia and 3 with lymphoid leukemia, were treated at relapse after bone marrow transplantation (BMT; 4 autologous BMT and 4 allogeneic BMT). Of these, 2 relapsed within 3 months after BMT (2 allogeneic BMT) and 6 (2 allogeneic and 4 autologous BMT) after more than 9 months after BMT. The 2 patients relapsing early showed no response to treatment and died. Five out of 6 patients relapsing late achieved complete remission (4 of them with intensive chemotherapy). Four patients are currently alive. Aggressive combination chemotherapy can produce long-term survival in selected patients relapsed after BMT.

Antineoplastic Combined Chemotherapy Protocols↗

Hb City of Hope [beta 69(E13)Gly----Ser] in Italy: association of the gene with haplotype IX.

Hb City of Hope [beta 69(E13)Gly----Ser] was detected by reversed phase high performance liquid chromatography in an asymptomatic carrier from Naples, Southern Italy. The amino acid substitution, identified by fast atom bombardment mass spectrometry, was due to a TGG----TGA substitution as assessed by DNA sequencing. Analysis of the chromosomal background indicates that the globin gene cluster containing the mutant gene has most probably been rearranged by a recombination event, since the mutation was associated with restriction fragment length polymorphism haplotype IX, instead of haplotype I, as previously reported.

Base Sequence↗

Origin heterogeneity of Hb Lepore-Boston gene in Italy.

Forty-three hybrid delta-beta-globin genes were characterized by DNA sequence analysis and associated RFLP haplotypes in 40 families from Abruzzo and Campania, which are on the east and west coast of Italy, respectively. All the genes had the delta-globin sequence up to the exon 2 codon 87 and had the beta-globin sequence from IVS-2-8; between these two ends, they had 58 bp in common with the delta- and beta-globin genes. Thus, they were all of the Lepore-Boston type. A chromosomal background heterogeneity was present among the mutant genes. In fact, they were all associated with (+ - - - -) 5' subhaplotype, but 23/31 from Campania were associated with (+ +) 3' subhaplotype, whereas 12/12 genes from Abruzzo and 8/31 from Campania were associated with (+ -). DNA sequencing of homozygous subjects showed that (+ +) 3' subhaplotype was associated, at IVS-2-74, with G, while (+ -) was associated with T; that is they were associated with the beta-globin gene sequence of frameworks 1 and 2, respectively. The molecular characteristics of this heterogeneity, as well as its geographical patterns in the eastern and western regions of Italy, represent strong evidence for the recurrent and multicentric origins of the mutation.

Base Sequence↗

Hemoglobin Neapolis, beta 126(H4)Val----Gly: a novel beta-chain variant associated with a mild beta-thalassemia phenotype and displaying anomalous stability features.

A novel beta-chain, beta 126(H4)Val----Gly, electrophoretically silent, was detected by reverse-phase high performance liquid chromatography in three unrelated families from Naples (Southern Italy) and accounted for about 30% of the total beta-chains. The amino acid substitution was detected by HPLC fingerprint. The eight heterozygous patients showed hematologic and biosynthetic alterations of mild beta-thalassemia type. The hemoglobin variant showed abnormal stability features. It was unstable in the heat stability and isopropanol precipitation tests, but did not cause a hemolytic syndrome in vivo and was stable in a time-course experiment of biosynthesis in vitro. DNA polymerase chain reaction direct sequencing of the mutated gene from 135 nt upstream of the cap site to 106 nt downstream of the polyadenylation site showed only the beta 126 GTG----GGG mutation, which was confirmed in the other patients by allele-specific oligonucleotide hybridization. The mutation was found to be associated with a type II beta-globin framework and restriction fragment length polymorphism haplotype V. The novel variant was named hemoglobin Neapolis.

Base Sequence↗

(Alpha)alpha 5.3: a novel alpha(+)-thalassemia deletion with the breakpoints in the alpha 2-globin gene and in close proximity to an Alu family repeat between the psi alpha 2- and psi alpha 1-globin genes.

A novel 5.3-kb deletion of the alpha-globin gene cluster was observed in a family from Naples, Southern Italy. It removes the 5' end of the alpha 2-globin gene, causing an alpha (+)-thalassemia defect. Because of the presence of the residual 3' end of the alpha 2-globin gene, we indicated this new haplotype with the symbol (alpha)alpha 5.3. The 5' breakpoint, the first to be reported in the intergene region of the psi alpha 2- and psi alpha 1-globin genes, is located 822 bp upstream of the cap site of the psi alpha 1-gene and about 150 bp upstream of a 300-nt Alu family member. The 3' breakpoint is located in the IVS-1 nt 58 of the alpha 2-globin gene. The 5.3-kb deleted fragment shows particular characteristics: it contains four Alu sequences having long regions 80% complementary and the 5'-GGCC-3' short repeat at both ends. The sequences spanning across the breakpoints on the same strand and containing this repeat on their 3' and 5' ends, respectively, are 17 of 25 base complementary. These particular features led us to assume the formation of a multistem-loop due to the intrastrand interaction between the complementary regions as intermediate to the deletion. The unusual localization of the 5' breakpoint suggests that even the intergene region of the psi alpha 2- and psi alpha 1-globin genes may function as a deletion target.

Base Sequence↗

Apparent isolated skin relapse in acute monocytic leukemia. A case report.

A case of acute monocytic leukemia with an apparent isolated skin relapse is reported. The cutaneous involvement was associated with a morphological bone marrow remission but a cytogenetic relapse was present. Regression of the skin lesions was obtained with a protocol including daunoblastine, aracytin and thioguanine, but the patient relapsed and died a few months later without achieving another remission. The relation between cutaneous and medullary disease is discussed.

Adult↗

OAP combination in the treatment of elderly leukaemic patients with preexisting severe internal disease.

Sixteen elderly patients affected by acute non lymphoblastic leukaemia (ANLL) with a preexisting severe internal disease were treated with a low systemic toxicity drugs combination: OAP (Vincristine, Cytarabine and Prednisone). Complete remission was achieved in 5 patients (31%) after 2 OAP courses. The mean duration of remission was 18 weeks. Six patients were resistant to the therapy. Six patients died during the treatment: 5 in induction phase and 1 in consolidation phase. Even though the duration of remission was short we retain that OAP combination may be still considered a good therapeutical approach in elderly ANLL patients with associated severe internal disease.

Aged↗

Central nervous system acute promyelocytic leukaemia: a report of three cases.

Authors report 3 cases of acute promyelocytic leukaemia, in which the central nervous system was involved in the first period of relapse. The clinical features of these patients are discussed. Authors conclude that central nervous system involvement in acute promyelocytic leukaemia must be considered a very bad prognostic sign, because in these cases a rapidly progressive course may be expected.

Bone Marrow Examination↗

[Fibrinolytic activity and adhesive syndromes of the lumbar vertebral canal].

The recent studies, related in medical literature, indicate a reduced activity of fibrinolysis in patients with low back-pain caused by multiple factors (lumbar disc disease, post-laminectomy, post myelography) and suggest a new pathogenetic hypothesis of this disease and new therapeutic implications. The authors conducted a research based on the study of fibrinolysis in patients affected by post-surgical lumbar adhesive syndrome, with the aim of finding, eventually, a relationship between reduced fibrinolytic activity and clinical symptoms. The results are referred and discussed.

Adult↗