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Biomedical subjects

G Russo-Mancuso

Publications and source records attributed to G Russo-Mancuso.

7 recordsLinked to original sources
PubMed1998

Survey of sickle cell disease in Italy.

BACKGROUND AND OBJECTIVE: The present study was designed to determine the distribution and severity of sickle cell disease (SCD) in Italy. DESIGN AND METHODS: A questionnaire, requesting information about the cases of sickle cell disease that had been seen during previous years, was sent to all Italian centers of Pediatrics and Hematology. The questionnaire was simple and required personal, hematologic and clinical information. RESULTS: A total of 696 cases were reported. The distribution of registered patients shows that, although the S gene originated mostly in Sicily and Southern Italy, 20% of patients with SCD now live in Central and Northern Italy. The types of SCD reported were as follows: compound heterozygotes HbS-beta thalassemia, (S-Th, 518 cases); homozygotes for HbS, (S-S, 149 cases); compound heterozygotes HbS and another abnormal hemoglobin (21 cases). The population of patients with SCD is younger than the general Italian population. More than 90% of patients have had no crises or only a limited number, namely, up to 6/year. Infections ranged between 0 and 6/year. Splenomegaly was reported in 28% and 80% of adult patients with S-S and S-Th, respectively. The prevalence of gallstones was 48%. INTERPRETATION AND CONCLUSIONS: The survey established that 1) sickle cell disease is widely distributed in Italy; 2) while the clinical spectrum is extremely variable, severe forms are infrequent.

Adolescent↗
PubMed1997

Presence of hemoglobinopathies in Sicily: a historic perspective.

Sicily, at the center of the Mediterranean, has been the meeting place of Eastern and Western civilizations, and in the Sicilian population the presence of many different alterations in the globin gene clusters can surely be considered testimony of past colonizations. From 1975 to 1994, 100,000 Sicilian subjects were screened by us to monitor the presence of hemoglobin (Hb) structural variants. In this paper we present the data gathered, emphasizing the high incidence (2.5%) of carriers of at least one abnormal Hb, and the great heterogeneity of globin molecular defects on the island. Twenty-six different mutations were identified: the most common occur in the beta-globin gene (beta(S), beta(C), deltabeta(Lepore), beta(G-San José), beta(O-Arab), but also quite frequent is the mutated allele alpha(J-Oxford). The chromosome haplotypes associated with some of them were characterized. Two uncommon Hbs, Copenhagen and D Punjab, and some 18 rare variants complete the wide spectrum of structural alterations of globin genes in Sicily. We think they are de novo mutations prevalently. It is not possible to exclude that the presence of a few of them is related to migratory phenomena, particularly from North Africa and East Asia. Numerous thalassemic alleles complete the picture of globin gene mutations in Silicy.

Adolescent↗
PubMed1995

Efficacy of an analysis of lymphocyte subsets in predicting the clinical response to alpha-interferon therapy in thalassaemia patients with chronic infection by hepatitis C virus: a pilot study.

alpha-interferon (alpha-IFN) has been used to treat chronic non-A non-B hepatitis in thalassaemic patients with response rates from 45% to 83%. Unfortunately, treatment with alpha-IFN is associated with side-effects which have a negative effect on the quality of life of the patient. Therefore it would be useful if we could distinguish in advance those patients who would benefit from such therapy from those who would not. In the present study we found that the modification of lymphocyte subsets 20 h after the administration of the first dose of alpha-IFN revealed that relative numbers of T helper lymphocytes (CD4+) increased in three non-responding patients and decreased in five responding patients, whereas those of T suppressor lymphocytes (CD8+), and natural killer cells (CD57+, CD16+) decreased in non-responding patients and increased in responding patients. Therefore analysis of the lymphocyte subsets CD4, CD8, CD57 and CD16 before and 20 h after the administration of alpha-IFN can be used to predict the clinical response to treatment with alpha-IFN.

Adolescent↗
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↗