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G Schiliro

Publications and source records attributed to G Schiliro.

At least 19 recordsLinked to original sources
PubMed2000

Acute neurotoxicity in children with B-lineage acute lymphoblastic leukemia (B-ALL) treated with intermediate risk protocols.

BACKGROUND: This study describes the incidence of acute neurotoxicity (NT) in children with B-lineage acute lymphoblastic leukemia (ALL) treated with three intermediate risk protocols that differ in the intensity of central nervous system (CNS) "prophylaxis. " PROCEDURE: A total of 122 patients (64 boys; median age 5.3 years) with B-lineage ALL without CNS leukemia diagnosed between February 1987 and December 1997 were enrolled in the intermediate risk (IR) protocols: Associazione Italiana di Ematologia ed Oncologia Pediatrica (AIEOP)-ALL 87 (n = 33), 91 (n = 51), and 95 (n = 38). Presymptomatic CNS therapy consisted of intrathecal methotrexate (six doses) and cranial irradiation (18 Gy) in the IR AIEOP 87 study, and extended triple intrathecal therapy with methotrexate, cytarabine, and prednisone depending on age in the IR AIEOP-ALL 91 and 95 protocols (20 and 17 total doses, respectively). World Health Organization (WHO) grade 4 acute neurotoxicity criteria were employed. Patients with neurologic symptoms, in addition to physical examination, underwent EEG, computed tomography (CT) and/or magnetic resonance imaging (MRI), and lumbar puncture to exclude CNS leukemia and infection. RESULTS: Acute NT was not reported in AIEOP-ALL 87 treated patients, but we observed acute NT in 3 out of 51 (5.8%) AIEOP-ALL 91 patients, and in 7 out of 38 (18.4%) AIEOP-ALL 95 patients. CONCLUSIONS: There was an increased incidence of acute NT in our patients with ALL treated with current intermediate risk protocols. The intensification of treatment, however, bettered event free survival (EFS) to 58%, 72% and 85% in IR AIEOP 87, 91 and 95 studies, respectively.

Adolescent↗
PubMed1997

Dissection of the association status of two polymorphisms in the beta-globin gene cluster with variations in F-cell number in non-anemic individuals.

Expression of fetal hemoglobin (Hb F) is under polygenic control involving determinants both linked and unlinked to the beta-globin gene cluster on chromosome 11. Variations in the DNase I-hypersensitive site 2 of the locus control region (LCR-HS2) and a C --> T change at position -158 from the Ggamma-gene (detected as an XmnI polymorphism) correlate with the high level of Hb F expression in patients with sickle-cell anemia and beta-thalassemia. Interpretation of data under these conditions of anemic stress is difficult because the preferential survival of Hb F-containing erythrocytes (F-cells) may not reflect the true status of Hb F expression. We investigated the relationship between these markers and Hb F expression in terms of F-cell levels in 48 unrelated non-anemic AS heterozygotes from Sicily. The betaS-chromosome of all these individuals was of the Benin haplotype and they differed only by their betaA chromosomes. We demonstrate that F-cell expression is more strongly associated with LCR-HS2 polymorphism than with XmnI polymorphism. The observed association between XmnI polymorphism and Hb F expression is very likely to be due to linkage disequilibrium with LCR-HS2 sequences.

Adult↗
PubMed1995

Congenital dyserythropoietic anemia type II associated with G6PD Seattle in a Sicilian child.

A 2-year-old Sicilian boy was investigated because of chronic nonspherocytic hemolytic anemia (CNSHA) associated with hepatosplenomegaly. Appropriate studies revealed deficiency of glucose-6-phosphate dehydrogenase type Seattle (G6PD Seattle). In addition, bone marrow morphology, serological studies and analysis of red cell membrane proteins revealed congenital dyserythropoietic anemia (CDA) type II (or HEMPAS). Because G6PD Seattle on its own does not cause CNSHA, we believe that the clinical manifestations in this patient are essentially due to the CDA type II abnormality. However, the coexistence of these two different red cell abnormalities may affect the clinical picture specifically by making CDA type II more hemolytic than it would have been otherwise.

Anemia, Dyserythropoietic, Congenital↗
PubMed1994

Possible factors influencing the haemoglobin and fetal haemoglobin levels in patients with beta-thalassaemia due to a homozygosity for the IVS-I-6 (T-->C) mutation.

We have collected haematological, haemoglobin (Hb) and DNA sequence data for 29 patients with a homozygosity for the IVS-I-6 (T-->C) mutation with the intention of identifying factors contributing to the observed variability in the severity of the disease. None of the patients had received blood transfusion therapy for at least 6 months prior to the study. Hb levels varied from 5.0 to 9.9 g/dl. Patients with high Hb F (more than 1.5 g/dl or > 20%) had high total Hb levels (7.5-9.7 g/dl) but some with low Hb F also had high total Hb levels; two had a concomitant alpha-thalassaemia-2 (alpha-thal-2) heterozygosity. An inverse correlation between the Hb F and Hb A2 levels was observed. The majority of the patients were homozygous for haplotype VI (49/58 chromosomes) but haplotypes IV (2/58) and VII (7/58) were also present. The only haplotype IV homozygote had high Hb F levels with high G gamma values and the C-->T mutation at position -158 in the G gamma promoter, while both high and low Hb F levels were observed among patients with haplotypes VI and VII. Analysis of sequence variations in regulatory regions included the 5' hypersensitive sites (HS) 4. 3 and 2 of the locus control region (LCR), the G gamma and A gamma 5' flanking regions, the second intervening sequence (IVS-II), and the 5' beta-globin gene region in two patients with high Hb F (one homozygote each for haplotypes VI and IV), and in two patients with low Hb F levels (one homozygote each for haplotypes VI and VII). Haplotype specific differences were observed in the LCR 5' HS-2 and in the G gamma and A gamma flanking and IVS-II regions; however, no differences were present between the low and high Hb F-producing haplotype VI chromosomes, suggesting a major role for factors which are not linked to the beta-globin gene cluster in mediating gamma-globin gene expression in patients with this type of beta-thal.

Adolescent↗
PubMed1993

A mild type of Hb S-beta(+)-thalassemia [-92(C-->T)] in a Sicilian family.

Hematological data are presented for an adult Sicilian patient with a mild Hb S-beta(+)-thalassemia caused by a C-->T mutation at position -92 of the beta promoter. This mutation was identified by sequencing of amplified DNA and was confirmed by dot-blot analysis with specific probes. A comparison of levels of Hb S and Hb A in Hb S-beta-thalassemia patients with different beta-thalassemia alleles showed great variations; the highest level of Hb A (45%) was recorded in the patient with Hb S-beta(+)-thalassemia [-92(C-->T)] and the lowest (approximately 13%) in patients with Hb S-beta(+)-thalassemia [IVS-II-745 (C-->G)]. Clinical severity is directly related to the level of Hb A present.

Adult↗
PubMed1992

Clinical, hematological, and molecular features in Sicilians with Hb S-beta-thalassemia.

The clinical, hematological, and molecular features of 81 patients with Hb S-beta-thalassemia and relatives from 76 unrelated families are reported. We analyzed the beta-thalassemia mutations and the beta S haplotypes in all patients and detected 6 different beta-thalassemia alleles: codon 39 (C-->T) (39 cases), IVS-I-1 (G-->A) (12 cases), IVS-II-1 (G-->A) (4 cases), IVS-I-6 (T-->C) (6 cases), IVS-I-110 (G-->A) (14 cases), and IVS-II-745 (G-->C) (6 cases). Eighty patients had haplotype #19 or the Benin type and one had haplotype #17 or the Cameroon type. The type of beta-thalassemia allele had the greatest influence on the phenotypic expression; this was observed for patients with Hb S-beta-thalassemia and for simple beta-thalassemia heterozygotes. The mild IVS-I-6 (T-->C) mutation produced borderline abnormal erythrocytic indices and Hb A2 levels in heterozygotes. Overall, there was a milder expression in beta(S) beta(+) patients (only 7.7% presented severe disease) than in those with the beta(S)beta(0) condition (22.6% had the severe form of the disease).

Alleles↗
PubMed1992

Beta S haplotypes in various world populations.

We have determined the beta S haplotypes in 709 patients with sickle cell anemia, 30 with SC disease, 91 with S-beta-thalassemia, and in 322 Hb S heterozygotes from different countries. The methodology concerned the detection of mutations in the promoter sequences of the G gamma- and A gamma-globin genes through dot blot analysis of amplified DNA with 32P-labeled probes, and an analysis of isolated Hb F by reversed phase high performance liquid chromatography to detect the presence of the A gamma T chain [A gamma 75(E19)Ile----Thr] that is characteristic for haplotype 17 (Cameroon). The results support previously published data obtained with conventional methodology that indicates that the beta S gene arose separately in different locations. The present methodology has the advantage of being relatively inexpensive and fast, allowing the collection of a vast body of data in a short period of time. It also offers the opportunity of identifying unusual beta S haplotypes that may be associated with a milder expression of the disease. The numerous blood samples obtained from many SS patients living in different countries made it possible to compare their hematological data. Such information is included (as average values) for 395 SS patients with haplotype 19/19, for 2 with haplotype 17/17, for 50 with haplotype 20/20, for 2 with haplotype 3/3, and for 37 with haplotype 31/31. Some information on haplotype characteristics of normal beta A chromosomes is also presented.

Africa↗
PubMed1991

The usefulness of sequence analysis of amplified DNA for the identification of delta chain variants.

A method of identifying delta chain variants using relatively small volumes of blood is described. The procedure consists of the amplification of two segments of genomic DNA with two sets of delta chain specific primers and sequencing of the three exons (exons 1, 2, and 3) which are part of the amplified DNA segments. Data for three delta chain variants present in seven adult heterozygotes are presented.

Adult↗
PubMed1991

Studies of delayed hypersensitivity responses in children in an industrialized region of Italy.

The purpose of the present study was to evaluate the effects of chronic exposure to chemical pollutants on cell mediated immune responses in a pediatric population living in Priolo, an industrialized area of Italy, by means of skin test (Multitest CMI). The results suggest that children living in Priolo display significantly lower delayed type hypersensitivity (DTH) response than those seen in an age-matched and socioeconomically similar group of children living in Taormina, a nonindustrialized area. The lowered incidence of DTH scores in Priolo is not due to the number of positive skin test responses to individual antigens, but rather to the size of individual reactions.

Child↗
PubMed1989

Evidence for the single origin of HB G-San Jose in Sicily.

Hb G-San Jose [alpha 2 beta 2 7(A4)Glu----Gly] was detected in four families and three unrelated individuals from Eastern Sicily. Polymorphic restriction sites within the beta-globin gene cluster bearing the mutation were characterized. A complete association of beta-G-San Jose alleles with Mediterranean haplotype IV was found in the families examined and the same haplotype was also present in the unrelated individuals. These findings support the hypothesis of an unicentric origin of the beta-G-San Jose mutation which may have arisen in Eastern Sicily.

Cluster Analysis↗
PubMed1989

A search for anomalies in the zeta, alpha, beta, and gamma globin gene arrangements in normal black, Italian, Turkish, and Spanish newborns.

Globin gene mapping analyses of DNA from numerous Black babies, and from newborns from Sardinia, Sicily, Turkey, and Spain have identified the following: A high incidence of alpha-thalassemia-2 heterozygotes among Black babies with less than 1% Hb Bart's at birth and a high incidence of alpha-thalassemia-2 among Sardinians, but not among Sicilian, Turkish, and Spanish babies. A relatively high incidence of zeta-thalassemia was present among Black babies only, while triplicated zeta was seen in four of the five populations. Two Black babies were each found to have a different theta 1 deletion; two Sardinian babies had a newly discovered approximately 2.5 kb deletion between zeta and psi zeta; four babies had the rare Bgl II polymorphism between psi zeta and psi alpha; and one Black baby lacked the Eco RI site 3' to zeta. Quantitation of the zeta chain by reversed phase high performance liquid chromatography showed that two-thirds of the babies with four alpha genes (alpha alpha/alpha alpha) had levels between 0.1 and 1.0%, while nearly 90% of the babies with -alpha/alpha alpha had similar levels (averaging 0.2% for alpha alpha/alpha alpha; 0.35% for -alpha/alpha alpha; 0.75% for -alpha/-alpha). Additional data indicated that the occurrence and level of zeta are related to the level of beta, i.e. the gestational age. The presence of a zeta triplication did not affect the level of zeta in cord blood. The extensive search for gamma-globin gene anomalies resulted in the discovery of a chromosome with five gamma genes. gamma-Thalassemia was rare in all populations, while the -G gamma-G gamma- gene arrangement was mainly observed among Black babies; this arrangement is primarily responsible for high G gamma levels in cord blood samples. The strong correlation between the presence or absence of a C----T mutation at position -158 (measured in Xmn I digests) and the level of G gamma was confirmed for adult blood samples. A search for possible anomalies in the -delta-beta- region through gene mapping with Eco RV gave negative results except for the discovery of a polymorphic site 5' to delta in one of the 371 Black babies tested.

Black People↗
PubMed1989

Lymphocyte subsets in kala-azar.

We examined lymphocyte subsets in peripheral blood from children with visceral leishmaniasis both in the active stage of the disease and after recovery. At diagnosis, CD2+ and CD4+ cells showed a significant decrease while CD8+ cells were significantly increased when compared with controls; CD4/CD8 ratio was inverted. All of these alterations returned to normal values 3 months after recovery.

Anemia↗
PubMed1987

Immunological changes in beta-thalassemia major patients positive for HTLV-III antibodies.

Antibodies to HTLV-III were found in 6 of 206 Sicilian patients with thalassemia major, aged 1 to 30 years. None of the patients showed clinical signs related to immuno-deficiency syndromes. Immunological investigations carried out in all positive patients showed alterations similar to those found in thalassemic patients without antibodies to HTLV-III. These immunological changes could not depend on the HTLV-III infection, but could be related to the thalassemic condition.

Adolescent↗