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A Ragusa

Publications and source records attributed to A Ragusa.

36 records · Page 2Linked to original sources
PubMed1995

HIV infection and invasive cervical carcinoma in an Italian population: the need for closer screening programmes in seropositive patients.

OBJECTIVE: To evaluate in an Italian population the prevalence, characteristics at first diagnosis and outcome of HIV-seropositive individuals with cervical carcinoma referred to a tertiary-care institution. DESIGN: A retrospective evaluation of all patients referred for invasive cervical carcinoma from 1991 to 1994. SETTING: The departments of obstetrics and gynaecology, and radiotherapy at San Gerardo Hospital, University of Milan, Italy. PATIENTS: A total of 340 women were treated over a 3-year period (186 aged < 50 years). Six patients were found to be HIV-seropositive. INTERVENTIONS: Seropositive patients were treated according to current institutional protocols, irrespective of HIV status. Four underwent radiotherapy and two radical hysterectomy as primary treatment. RESULTS: Although five HIV-seropositive patients were known to be infected 13-81 months before diagnosis of cervical cancer, none had received a PAP smear in the last year and only one in the last 2 years. HIV patients were younger than general population (P = 0.02), with a significant history of intravenous drug use (P = 0.000001) and with more advanced disease (P = 0.04). Two HIV-positive patients also received polychemotherapy (one adjuvant and one salvage treatment) and both completed the planned treatment. Within 24 months two patients had died of cancer and one of AIDS; one is alive with AIDS and cancer and two are free of disease. CONCLUSIONS: This study confirms that in a southern European population, HIV-seropositive women present to tertiary-care institutions with more advanced disease and have a poorer prognosis than the general population. Strict screening programs for cervical dysplasia and cancer are warranted for HIV-seropositive patients.

Adult↗
PubMed1994

Pre-operative cervical preparation before first trimester missed abortion: a randomized controlled comparison between single or double intracervical administration of PGE2 gel.

The aim of this study was to evaluate whether a single intracervical application of prostaglandin E2 (PGE2) gel is as effective as a repeated administration with respect to the % of curettage for a missed abortion and to incidence of side effects. 32 consecutive patients with ultrasonographic diagnosis of missed abortion from 6th-13th week of gestation were randomly allocated to either single (group A) or repeated, 2 h apart (group B), intracervical application of PGE2 gel. No differences were observed in cervical dilatation before the administration of the gel between the two groups. In group B, evaluation of cervical dilatation 2 h after the first administration of PGE2 gel and before the second one did not show significant changes as compared to baseline values. The degree of cervical dilatation before surgery was significantly improved as compared to the initial dilatation in both groups; no significant difference was observed between the two study groups. A single administration of PGE2 gel followed by surgery 5 h later has the same effectiveness on cervical dilatation but fewer side effects than repeated administration of the drug 2 h apart.

Abortion, Missed↗
PubMed1993

Inter-ethnic polymorphism of the beta-globin gene locus control region (LCR) in sickle-cell anemia patients.

Sequence polymorphisms within the 5'HS2 segment of human locus control region is described among sickle cell anemia patients. Distinct polymorphic patterns of a simple sequence repeat are observed in strong linkage disequilibrium with each of the five major beta s haplotypes. Potential functional relevance of this polymorphic region in globin gene expression is discussed.

Algeria↗
PubMed1993

Induction of labor with intravaginal prostaglandin E2 gel.

OBJECTIVE: The aim of our study was to evaluate the optimum dose of intravaginal prostaglandin E2 gel for induction for labor in nulliparous women with a relatively ripe cervix (modified Bishop score 4 or 5). METHOD: One hundred and sixty-seven nulliparous women at term with indications for the induction of labor were treated randomly with two doses of intravaginal 2.0 (group A) or 3.0 mg (group B) of prostaglandin PGE2 gel every 12 h. Data were analyzed by chi 2-test and Student's t-test. RESULTS: Of 87 patients 64 went into labor after gel application in group A, compared with 68/80 in group B (73.5% vs. 85.0%) (P = NS). A second gel administration was needed for 9 women in group A and 6 women in group B. More side effects (both local and systemic) were noted in group B than in group A (28.7% vs. 14.9%) (P = 0.03). In particular, more local (hyperstimulation or hypertonus) side effects were noted in group B (13.7% vs. 2.3%) (P = 0.01). CONCLUSION: The vaginal administration of 2.0 mg of PGE2 gel seems to be equally effective as 3.0 mg in terms of labor success rate with a significant lower incidence of side effects.

Administration, Intravaginal↗
PubMed1992

Genetic epidemiology of beta-thalassemia in Sicily: do sequences 5' to the G gamma gene and 5' to the beta gene interact to enhance HbF expression in beta-thalassemia?

The present epidemiological study of the molecular characteristics of beta-thalassemia in Sicily was prompted by the disparate phenotypic expression (in clinical status and absolute HbF level) observed in two beta-thalassemic homozygotes who were also homozygous for the beta-like globin gene cluster haplotype III. We suspected that polymorphisms within haplotype III could be the cause for the discrepancy. Based on the association of particular conformations of the (AT)xT(y) motif (-540 5' to the beta gene) with milder forms of thalassemia and sickle cell anemia, 38 homozygous beta-thalassemia patients were studied to define their haplotypes, the -158 site 5' to the G gamma gene (linked to haplotype III) and the structure of the (AT)xT(y) motif. We found that the patient who was phenotypically mild and homozygous for beta-thalassemia, haplotype III, and the -158 C----T mutation was homozygous for the rare (AT)9T5 motif. In contrast, the patient homozygous for beta-thalassemia, haplotype III, and the -158 mutation, but exhibiting a severe clinical course, was homozygous for the (AT)7T7 configuration. Others have suggested that (AT)9T5 is a negative regulatory protein binding sequence, and it is a silent carrier state for beta-thalassemia. The usual configuration (AT)7T7, has considerably less affinity for regulatory protein binding, and it is the most common configuration in Sicilian beta-thalassemics (67 of the 78 chromosomes studied). Within the 38 patients studied, seven were informative because they had various combinations of the (AT)9T5 and (AT)7T7 motif, and the -158 C----T mutation. The results in these patients suggest that only the co-presence of the (AT)9T5 configuration and a C----T change at -158 5' to the G gamma gene is associated with high HbF expression and a mild clinical phenotype. We postulate that these two regions of the beta-like globin gene cluster interact, when endowed with the proper sequences, to enhance the expression of HbF secondary to anemia.

Adolescent↗
PubMed1992

Presence of an African beta-globin gene cluster haplotype in normal chromosomes in Sicily.

African admixture in Sicily has been long suspected because of the presence of the sickle gene. Nevertheless, the degree of African admixture cannot be derived from the study of HbS frequency, since this gene was most likely expanded by the selective pressure of malaria, for a long time endemic to the region. We have examined 142 individuals from the Sicilian town of Butera (12% sickle trait) to search for other markers of the globin gene cluster less likely to be selected for by malaria. The TaqI polymorphism in the intervening sequences between the two gamma genes is informative. We have found only two instances of this African marker (TaqI(-)) among 267 normal chromosomes, demonstrating that the admixture occurred at a much lower level than previously thought.

Adolescent↗
PubMed1989

Nucleotide variations in the 3' A gamma enhancer region are linked to beta-gene cluster haplotypes and are unrelated to fetal hemoglobin expression.

Molecular cloning and sequence analysis of a nondeletion form of Sicilian beta o hereditary persistence of fetal hemoglobinemia (HPFH) (mutation in IVS2 nt1 position) homozygous for haplotype III revealed the presence of four sequence variations: C----T at -158 5' to G gamma, T----C at +2285, C----A at +2476, and A----G at +2676, all 3' to A gamma. The latter three variations in the putative A gamma enhancer are identical to those observed in the case of Seattle HPFH. However, a severe beta o-thalassemia case from Algeria (mutation in IVS1 nt1 position), also homozygous for haplotype III, revealed the same nucleotide variation, albeit an inefficient HbF production. We conclude that the variations in the A gamma enhancer element do not play a role in the regulation of HbF production. To assess both the linkage of these sites with the beta-cluster haplotype and the extent of the polymorphism, we examined several black and Mediterranean chromosomes, by PCR amplification followed by both EspI digestion and oligonucleotide hybridization. Our data indicate that these sequence variations in the enhancer element are absent in Mediterranean haplotypes I, V, and VII but are consistently associated with Mediterranean haplotypes II, III, and IX, as well as with the black beta c-associated haplotype. The common feature of all the latter haplotypes is the presence of a polymorphic PvuII site between A gamma and psi beta, which is thus in linkage disequilibrium with the variations in the A gamma enhancer.(ABSTRACT TRUNCATED AT 250 WORDS)

Base Sequence↗
PubMed1989

The enhancer-like sequence 3' to the A gamma gene is polymorphic in human populations.

Cloning and sequencing of the enhancer 3' of the A gamma globin gene of a particularly low G gamma and HbF sickle cell anemia (SCA) patient unexpectedly revealed three base changes (T----C, C----A, and A----G at sites +2285, +2460, and +2676) previously associated with the Seattle-type HPFH, thus leading the authors to suspect that the three mutations were polymorphic. The determination of the incidence of the mutations among various ethnic groups allowed the authors to conclude that this is a widely spread polymorphism, thus excluding any role of these base changes in the determination of the hereditary persistence of fetal hemoglobin (HPFH) phenotype. The origin of these three mutations is not clear because they appear linked, and the same bases (C, A, G) are found in homologous position in the 3' of the normal G gamma gene. As C, A, G at positions +2285, +2460, and +2676 are found with a 100% frequency in African SS patients and presumably among normal Africans (to explain the extremely high frequency among normal American blacks), it is likely that this was the sequence preceding the division of races. The presence of T, C, and A at the same positions apparently occurred after the divergence between blacks and the other races, that is, within the last 1 million years.

Base Sequence↗
PubMed1988

Beta S gene in Sicily is in linkage disequilibrium with the Benin haplotype: implications for gene flow.

Hemoglobin beta-like gene cluster haplotypes defined by restriction enzyme polymorphic sites are useful in determining the origin of the beta S gene found in several human populations. We present here evidence that the beta S gene found among Sicilians is associated with the same haplotype observed among sickle cell anemia patients from Central West Africa. In addition, this haplotype is either nonexistent or very rare among normal Sicilian individuals. We conclude that the beta S gene was introduced to Sicily from North Africa and that the gene flow originated in Central West Africa and traveled north through historically well-defined trans-Saharan commercial routes.

Anemia, Sickle Cell↗
PubMed1987

Modification of bronchial hyperreactivity during pollen season in children allergic to grass.

Ten children, sensitive to grass pollens with seasonal rhinitis and mild asthma, underwent bronchial challenge with carbachol in the pre-seasonal, seasonal, and post-seasonal period. According to pollen count, we observed significant differences between pre-seasonal, seasonal, and post-seasonal values. Also basal FEV1 values varied in the same fashion. Seven of the ten children also participated in a previous similar study in 1984, at which time they did not demonstrate significant variations to bronchial challenge. We wish to emphasize the importance of pollen concentration in the atmosphere as well as the existence of a threshold value of grass pollen necessary for a significant modification in bronchial reactivity to occur.

Asthma↗
PubMed1986

Heterogeneity of haplotypes among patients with severe Cooley disease in Eastern Sicily.

There is a large variation of clinical severity among thalassemic patients in Sicily. A heterogeneous molecular basis has already been demonstrated among the patients presenting with thalassemia intermedia. The same approach, based mostly on linked haplotypes of the beta gene cluster polymorphisms and in some cases on the demonstration of the molecular defect itself, was used to investigate 55 patients presenting with severe Cooley anemia, all maintained under permanent transfusion regimen. A large heterogeneity was demonstrated in the observed haplotypes, and only a limited overlap with those already found in thalassemia intermedia. It has been noted that many of the patients are compound heterozygotes, the various observed associations making the antenatal diagnosis at the DNA level difficult in the near future.

Adolescent↗
PubMed1986

Haplotype VI associated beta + thalassaemia intermedia. First Italian case.

We report the study of a family originating from eastern Sicily with mild beta thalassaemia intermedia which is similar both at a molecular level and in clinical form to that called "beta + thalassaemia intermedia-Portuguese type". Our patients were homozygous beta + thalassaemics with high HbA2 and low HbF levels. The mild clinical course was as a result of their age and because regular blood transfusion was established only in adulthood. All of the heterozygote parents were asymptomatic with a blood picture and haemoglobin pattern typical of beta thalassaemia. Studies at a molecular level revealed no abnormalities in the beta-like globin gene cluster and excluded the presence of a deletional form of alpha thalassaemia. Restriction enzyme site polymorphisms around the beta gene cluster showed that all patients were homozygous for the haplotype described as VI. Comparison of these homozygous haplotypes with the Portuguese ones revealed a clear difference in the polymorphic Pvu II site. In all Sicilian homozygous cases, this site was present on one chromosome and absent on the other. Therefore our hypothesis is that Portuguese beta + thalassaemia intermedia is different from the Sicilian type.

Adult↗
PubMed1986

Influence of aeroallergens on bronchial reactivity in children sensitized to grass pollens.

Nine children, sensitized to grass pollens, with seasonal rhinitis and mild asthma underwent bronchial challenge with carbachol and EIA test repeatedly either during a pre-seasonal or in seasonal period. We failed to find any significant difference between pre-seasonal and seasonal values in both tests. We believe that atmospheric conditions are an important determinant of our results. It is our hypothesis that a threshold concentration in atmospheric pollen may exist which must be reached before an allergic reaction is evident.

Air Pollution↗
PubMed1985

The -158 site 5' to the G gamma gene and G gamma expression.

To test the hypothesis advanced by Gilman and Huisman that the -158 site 5' to the G gamma gene determines the G gamma expression after the first 4 months of life, we have examined DNA from sickle cell anemia (SS) patients from Africa and beta-thalassemic homozygotes from Algeria. We find that the Xmnl site is strongly linked to the Senegal haplotype among SS patients, to haplotype IX (most probably identical to the Senegal haplotype), and to haplotype III among the Algerian thalassemics. Thalassemics with haplotypes I/I and V/V have no Xmnl site and low G gamma expression. In contrast, beta-thalassemia-associated haplotype II (also characterized by high G gamma expression) fails to exhibit the Xmnl site. We conclude that, although highly correlated, the -158 C----T substitution does not perfectly predict the presence of high G gamma expression. These findings also exclude the possibility that the Xmnl site is solely involved in the determination of high G gamma expression and suggest that either several different site substitutions in the area 5' to the gamma gene might have the same effect or that, alternatively, the Xmnl site and its surrounding area is not involved in G gamma expression and may be only in linkage disequilibrium with a controlling sequence elsewhere.

Africa↗
PubMedDate not supplied

Sodium cromoglycate and carbachol-induced bronchoprovocation in asthmatic children.

Ten children with mild bronchial asthma underwent bronchial challenge with carbachol on three consecutive days; using a double-blind technique, they were given inhaled saline placebo on the first day and placebo or sodium cromoglycate (SCG) on the second and third days 15 min prior to the bronchial provocation test with carbachol. We did not find any significant difference between the baseline and placebo values, but we did obtain a statistically significant difference when comparing baseline with post-SCG and placebo with post-SCG values. These results demonstrate a protective effect of SCG on carbachol-induced bronchospasm in asthmatic children.

Adolescent↗