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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↗
PubMed1978

Decrease of alpha-Hasharon globin in beta-thalassaemia.

In time course experiments performed in subjects carrying haemoglobin Hasharon and beta-thalassaemia the synthesis of alphaA-, alphaHasharon-, beta- and gamma-globin has been determined. The alpha-globin molecules synthesized in excess were found to be removed from the red cell cytoplasm (phenomenon characteristic of beta-thalassaemia, described by Bargellesi et al, 1968a); in addition the alphaHasharon-globin molecules were removed at a faster rate than normal alpha-globin. The preferential removal of the mutant alpha-globin explains the reduced level of haemoglobin Hasharon found in subjects carrying the gene for beta-thalassaemia (Alberti et al, 1975). Reductions below normal levels of other haemoglobin variants occurring in the presence of the counterpart-globin thalassaemia are probably determined through a similar mechanism.

Genes↗
PubMed1978

Hereditary pyruvate kinase deficiency: role of the abnormal enzyme in red cell pathophysiology.

Two new mutant Pks, electrophoretically identical but kinetically slightly different, are reported. These two clinically innocuous PK variants, encountered in two non-related subjects, have combined in their daughter to give a fully expressed haemolytic anaemia. The functional abnormalities of the daughter's PK (increased K0.5 PEP, abnormal response to FDP, increased urea and guanidine-HCl stability, abnormal isoelectrofocusing and electrophoretic patterns) were like those of the parents but more pronounced, except for thermostability that was normal in the proband although markedly decreased in both parents. The family examined demonstrates that there is no relationship between in vitro properties of the variant and the severity of haemolysis. The hypothesis is put forward that the cause of haemolysis in PK deficiency may be associated with another defect located in the red cell membrane.

Anemia, Hemolytic↗
PubMed1978

Reproductive compensation in families segregating for Cooley's anaemia in Ferrara.

The reproductive performance of 100 families segregating for Cooley's anaemia was studied and compared to the performance of 127 control families. The control families were those of the sibs of the parents in the segregating families. No differences was found in the variables which might affect fertility and fecundity in control and thalassaemic families, although a different shape of the distribution of the number of births per family was found; the distribution had a higher variance in thalassaemics than in controls. The interval between the birth of a normal and an affected child is significantly longer than the interval between the birth of an affected child and a subsequent one. It was thought that these findings are indicative of reproductive compensation in families segregating for Cooley's anaemia, and of the moderate effect of the genetic counselling given to them.

Adult↗
PubMed1977

Population genetics in the province of Ferrara. II. Survival of children with Cooley's anemia.

The demographic data of children with Cooley's anemia seen at the thalassemia center in Ferrara were analyzed. Survival was studied as a function of several variables, the most interesting being the distance between birthplaces of the parents of affected children. This distance was considered an indicator of genetic distance, and therefore an indicator of residual hybridity of the children. The significant regression of survival on interparental distance might be interpreted as an indicator of increased survival due to residual hybridity. The significant correlation of survival with expected hybridity supports this interpretation.

Child↗
PubMed1977

Segregation analysis of thalassemia in Ferrara.

Segregation analysis of 996 families in which the gene for beta-thalassemia was segregating showed no distortion of expected Mendelian ratios. No appreciable frequency of sporadic cases was detected. It was suggested that segregation distortion is not a mechanism which contributes to the maintenance of polymorphism in the beta-thalassemia system in the population of the Ferrara area.

Computers↗
PubMed1976

A study of nine polymorphic systems in the population of the Po Delta.

The present work reports a study of nine genetic polymorphic systems in the area of the Po Delta where malaria was endemic since the XIV century. Our data confirm some characteristics of this population already reported by other authors such as the high prevalence of thalassemia, the low prevalence of the rh (d) gene and the presence of G-6-PD deficiency. Among the other systems studied, i.e., AP, PGM1 ADA and AK, only AP frequencies of Po Delta population are significantly different from those of other continental Italian populations, the PC allele showing the lowest frequency so far observed.

Acid Phosphatase↗