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Biomedical subjects

C Vullo

Publications and source records attributed to C Vullo.

At least 19 recordsLinked to original sources
PubMed1992

Hepatitis C virus antibodies in a long-term follow-up of beta-thalassaemic children with acute and chronic non-A non-B hepatitis.

The presence of antibodies toward hepatitis C virus (HCV) was examined in 78 polytransfused beta-thalassaemic children. The anti-HCV status was correlated with acute and chronic non-A non-B (NANB) hepatitis that developed during a follow up of about 13 years. Anti-HCV was present in 83.3% of children with acute NANB hepatitis and in 82.9% of those with chronic NANB hepatitis. The percentage of chronic evolution was 56.7% for acute anti-HCV positive NANB hepatitis and 50.0% for anti-HCV negative NANB hepatitis. The long-term persistence of anti-HCV antibodies did not correlate with chronic evolution of liver infection in thalassaemic patients. Histological features of chronic hepatitis showed little or no difference between HCV associated or non-associated liver disease. The multifactorial liver injury in beta-thalassaemic children explains the high prevalence of cirrhosis (about 30%) observed in these patients with NANB hepatitis. On the other hand, independent of liver disease, some patients never seroconverted during the follow up in spite of the high number of transfusions suggesting the existence of "non-responders".

Acute Disease↗
PubMed1992

Genetic structures in the Po Delta: principal components, systemic functions and the relative age of the beta-thalassemia polymorphism.

The principal component representations of the genetic structure of the human population of the Po Delta, obtained from 7 polymorphic loci, are compared with the representations obtained from the systemic function of gene frequencies devised by Womble 1951. It is noted that, when tridimensional representations are used, some consistency is visible in the results of the two methods for the description of the genetic population structure in the area under study. Both methods indicate that the present structure of the balanced polymorphism for beta-thalassemia in the area appears to be more recent than the structure of the neutral polymorphisms studied.

Alleles↗
PubMed1992

Effectiveness of partial splenic embolization as treatment for hypersplenism in thalassaemia major: a 7-year follow up.

Partial splenic embolization is an alternative procedure to total splenectomy in patients with hypersplenism, and was performed in 10 patients with beta-thalassaemia major who were then followed for 5 to 7 years. The results were compared with those of a 7-yr follow-up of 6 splenectomized thalassaemics. The blood consumption decreased and the leucocyte counts increased in both groups of patients. However, after partial splenic embolization, severe thrombocytosis--which is typical of splenectomized patients--did not develop and there were no severe complications from the operation, such as infections or reappearance of hypersplenism. In addition, the minor surgical injury and avoidance of abdominal scars were further advantages of partial splenic embolization over total splenectomy.

Adolescent↗
PubMed1992

Hypoparathyroidism in beta-thalassemia major. Clinical and laboratory observations in 24 patients.

In the last 18 years, we have observed 24 cases of hypoparathyroidism (HPT) in beta-thalassemia major. At present, 4.5% of patients followed regularly in our department have this complication. HPT is thought to be mainly the consequence of iron deposition in the parathyroid glands. The age of our patients when HPT was diagnosed ranged from 11 to 24 years (mean 16.5 years). Their serum ferritin levels ranged from 810 to 15,200 ng/ml (mean 3,772 ng/ml). The severity of HPT varied widely. In only 3 patients was hypocalcemia severe with signs of tetany, seizures or cardiac failure. The onset of HPT was preceded or followed in most patients by other endocrine and/or cardiac complications. We found no clear relationship between HPT and serum ferritin levels in our patients, suggesting either an individual sensitivity to iron toxicity or early damage of the parathyroid gland before chelation had reduced the iron overload. However, the diagnosis of no new cases of HPT in the last 3 years coinciding with the much improved regime of chelation therapy suggests that chelation may have helped to prevent the development of HPT.

Adolescent↗
PubMed1992

[The prevention of beta-thalassemia homozygosity].

Theoretical and practical aspects of programs for prevention of homozygous beta-thalassaemia are discussed and data concerning their efficacy are presented. Prevention of the beta-thalassaemia homozygous state is feasible at a reasonable cost.

Genetic Carrier Screening↗
PubMed1991

Reproductive behavior of thalassemic couples segregating for Cooley anemia.

The reproductive behavior in 1984 of families segregating for Cooley anemia in Ferrara was compared with that of a control group of families, matched for some biological variables which affect fertility. At the resolution power of the sample, it was found that there is no significant difference in these variables due to segregation for Cooley anemia, and it appears that there is no longer significant reproductive compensation in thalassemic couples, although a tendency to compensate does still exist. The increased life span of children affected by Cooley anemia, due to improvements in treatment in the past decade, is probably the main reason why the compensatory reproductive behaviour of the past has almost disappeared.

Adult↗
PubMed1991

Gonadal function after allogenic bone marrow transplantation for thalassaemia.

Thirty prepubertal patients with thalassaemia major (15 boys and 15 girls) aged from 9.3 to 17.2 years (mean 12.9) who had successfully undergone allogenic bone marrow transplantation were studied. Before the transplant all patients were given short courses of high doses of busulphan (total dose 14 mg/kg) followed by cyclophosphamide (total dose 200 mg/kg). Pituitary gonadal function was assessed between 0.7 and 5.1 years (mean 2.3) after bone marrow transplantation. Increased gonadotrophin concentrations indicating gonadal damage were found in 80% of the girls, probably as a result of the chemotherapy. In all the prepubertal boys the basal follicle stimulating hormone and luteinising hormone concentrations were normal. Most of the boys had reduced gonadotrophin and testosterone responses after gonadotrophin releasing hormone and human chorionic gonadotrophin tests. This could have been the result of iron overload but the effect of cytotoxic agents cannot be excluded. These findings emphasise the need for vigilant long term follow up of thalassaemic patients treated with cytotoxic chemotherapy for bone marrow transplantation so that those requiring hormone replacement can be identified and treated.

Adolescent↗
PubMed1991

Reproductive behaviour of families segregating for Cooley's anaemia before and after the availability of prenatal diagnosis.

The reproductive behaviour of couples with heterozygous beta thalassaemia, with at least one affected child, was investigated for the period 1955 to 1984 and was compared to the behaviour of control couples matched for age, age at marriage, and presence of at least one child. The comparisons were made as a function of knowledge of the risk and availability of prenatal diagnosis and abortion. It was found that the couples segregating for Cooley's anaemia, before knowledge of the risk, had a higher reproductive rate than that of control couples. Knowledge of the genetic risk had a different effect on reproductive behaviour in the 1950s from that in later years. The difference was attributed both to the influence of cultural factors and to technical, therapeutic, and diagnostic advances.

Abortion, Eugenic↗
PubMed1991

New developments in stem cell transplantation with special reference to the first in utero transplants in humans.

Based on the experience acquired in post-natal liver transplantation since 1974, we recently initiated pre-natal, in utero stem cell transplantation from the human fetal liver. The first two fetuses that we treated had immunodeficiencies, the third one had thalassemia major. Donors and recipients were not matched. The fetal cells were infused in the umbilical vein of the first two patients and injected intraperitoneally into the third one, under ultrasonic visualization. The first patient, born in 1988, has both engraftment of donor cells and reconstitution of cell-mediated immunity. This child, who had bare lymphocyte syndrome, has no clinical manifestation of the disease and he lives normally at home. The second child, born in 1989, has not yet developed a significant reconstitution of immunity although donor cell engraftment has been proven (Y chromosome in this female patient). The third patient has also evidence of donor cell take (Y chromosome in a female patient) but the effect on thalassemia has not yet been fully analyzed (donor hemoglobin present in small quantity). In all 3 cases, no side-effect of any kind developed in the mother nor in the fetus. Several advantages appear to be associated with in utero FLT: increased probability of graft take, ideal isolation of patient (in the uterus), optimal environment for fetal cell development (in the fetal host).

Female↗
PubMed1990

Social integration of the older thalassaemic patient.

Because social policy favours the fullest possible social integration of chronically ill patients, we have evaluated the facilities that are needed to achieve this for patients with beta thalassaemia major in the light of the therapeutic advances that now permit them to survive into adulthood. We have investigated the social integration of adolescent and young adult thalassaemic patients, 171 from Greece and 112 from Ferrara in Italy. Patients in both areas show a good level of social integration and favourable self image, indicating what may be achieved by providing psychosocial support as part of a comprehensive approach to treatment.

Adolescent↗
PubMed1990

[Rickets- and/or scurvy-like bone lesions in beta-thalassemia major].

Recently, a new type of skeletal lesions has been described in Cooley's anemia as a possible complication secondary to therapy. In 12 children affected with thalassemia major, who received an intensive transfusional regimen combined with continuous iron chelation therapy (desferoxamine-B: 50-80 mg/kg/day), some radiological abnormalities of the long bones were observed similar to those described in rickets and scurvy. These rickets and/or scurvy-like lesions had never been reported before the introduction of high-dose desferoxamine therapy. The pathogenesis of these lesions is uncertain, but the toxic effect of desferoxamine probably plays an important role in their development. The association of growth retardation and rickets and/or scurvy-like skeletal lesions in Cooley's anemia patients may be used as a valuable clinical criterion in long-term chelation management.

Adolescent↗
PubMed1989

Genetic and other influences on red-cell flavin enzymes, pyridoxine phosphate oxidase and glutathione reductase in families with beta-thalassaemia.

In 18 beta-thalassaemia families from the Ferrara area the incidence of an inherited low flavin mononucleotide (FMN)-dependent pyridoxine phosphate (PNP) oxidase activity, a sensitive indicator of red-cell FMN deficiency, is higher in related members in these families than in the unrelated spouses and controls subjects without family history of thalassaemia. This suggests slower red-cell riboflavin metabolism in thalassaemia families, which may have resulted from selection in combination with thalassaemia by malaria. However, there was a markedly higher incidence of red-cell flavin adenine dinucleotide (FAD) deficiency in thalassaemia heterozygotes than in their normal relatives. This was indicated by higher stimulation of FAD-dependent glutathione reductase (GR) activity by FAD and lower GR activity per red cell, and suggests a marked additive effect by thalassaemia on the red cell FAD deficiency that results from the inherited slow riboflavin metabolism. There is evidence that diversion of FAD to other FAD-dependent enzymes might be an important factor.

Adult↗