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Biomedical subjects

C Vullo

Publications and source records attributed to C Vullo.

At least 109 records · Page 6Linked to original sources
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↗
PubMedDate not supplied

Endocrine assessment of hypogonadism in patients affected by thalassaemia major.

Gonadotrophin releasing hormone (GRH) was administered to 54 patients (39 prepubertal and 15 pubertal) with beta-thalassaemia major to assess pituitary gonadotrophin secretory reserve. Human chorionic gonadotrophin (HCG) was also administered to 10 of the prepubertal boys to assess gonadal endocrine function. Many patients, some with and some without pubertal changes and including prepubertal children aged from 7 to 12 years, had evidence of pituitary hypofunction. A normal pituitary response to GRH stimulation, with decreased gonadal hormone response to the HCG test, found in 3 subjects, demonstrated that gonadal endocrine failure may also occur.

Adolescent↗
PubMedDate not supplied

Ferrara beta 0 thalassaemia caused by the beta 39 nonsense mutation.

Ferrara type of beta 0 thalassaemia has two unusual features: first, normal beta-globin chain synthesis is inducible either in cell-free systems prepared from patients' reticulocytes by adding supernatant factors from non-thalassaemic reticulocyte lysates or in heterologous cell-free translation of thalassaemic mRNA; second, beta-globin synthesis is inducible in patients in vivo after blood transfusion. We now describe a molecular lesion of the beta-globin gene that is common to nine cases of Ferrara beta 0 thalassaemia but cannot be reconciled with the inducible response.

Gene Expression Regulation↗