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Biomedical subjects

E Bottini

Publications and source records attributed to E Bottini.

At least 91 records · Page 5Linked to original sources
PubMed1981

Adenosine deaminase polymorphism. Associations at clinical level suggest a role in cell functions and immune reactions.

It is well known that subjects homozygous for a rare silent allele of ADA may experience a severe combined immunodeficiency. By analogy we have investigated the possible relationship of normal ADA polymorphism with some situations, such as reproductive defects and fetomaternal interactions, in which immunological mechanisms may play an important role. A total of 572 consecutive newborns, 93 consecutive low birthweight infants, 46 couples with unexplained habitual abortion, and 24 couples with unexplained sterility were studied. The proportion of ADA 2-1 phenotype was reduced in couples with reproductive defects. In the sample of consecutive newborns the proportion of ABO incompatible babies was higher among ADA 2-1 than among ADA 1 types. ADA 2-1 phenotype was also associated with a reduction in the variability of gestational length. These associations were much more marked among male than among female babies. The proportion of ADA 2-1 was significantly lower in low birthweight infants than in the consecutively studied infants and normal adults. The present data suggest that biochemical variability resulting from the normal ADA polymorphism may be, at least in part, responsible for the variability of some immunological functions and related physiological variables and pathological conditions. They also provide evidence in favour of a selective advantage of ADA heterozygotes.

ABO Blood-Group System↗
PubMed1980

The relations between G-6-PD deficiency, thalassemia and malaria. Further analysis of data from Sardinia and the Po Valley.

Discriminant analysis carried out on a set of environmental and sociocultural variables in the Sardinian population suggests that G-6-PD deficiency and thalassemia move along 2 dimensions partially independent of each other. Partial correlation analysis also suggests that malaria, by itself, may exert opposite effects on thalassemia and G-6-PD selection. The present results support the hypothesis that thalassemia may be the primary genetic factor selected by malaria, whereas G-6-PD selection may be a secondary adaptation phenomenon strongly dependent on other genetic and environmental variables.

Consanguinity↗
PubMed1980

Is there a relationship between sex of cystic fibrosis carriers and sex ratio of their offspring?

Data on the offspring of 198 aunts and 179 uncles of 100 cystic fibrosis index cases were analyzed. Aunts showed higher average number of liveborn sons than uncles. No significant difference was observed in the number of liveborn female offspring. When the sample was subdivided with respect to family size, the proportion of liveborn sons of aunts appeared higher than that of uncles in all classes. The present observations suggest that a female carrier may have a higher probability of male offspring than a male carrier and that she may be mainly responsible for the sex ratio deviations previously reported in sibships of cystic fibrosis patients.

Cystic Fibrosis↗
PubMed1980

Blood groups and histocompatibility antigens in habitual abortion.

Forty-six couples with at least two consecutive abortions were examined. The morphological and the functional clinical check-ups were constantly negative. In all the couples a karyotype analysis was carried out including an investigation of C and/or G bands. The phenotypes of ABO, Rh, MNSs and HLA-systems were also determined. No significant difference was observed in the distribution of ABO phenotypes between males and females, or between subjects with abortions and controls. Regarding the Rh system, the most important findings are the absence of phenotypes with the E allele in double dose, the reduction of the frequency of the CCDee phenotype and the increase in the frequency of the ccDEe phenotype. Concerning MNSs system, an increase in the frequency of the phenotypes with the S allele in double dose is observed. Females with habitual abortions show a higher incidence of Bw35 as compared both to males and to the controls. No significant differences were observed for other antigens. The persistence of a genetic disequilibrium both in the Rh and the MNSs systems suggests that the selection might act against certain antigenic combinations, independently from the state of materno-foetal compatibility. Though preliminary, our data seem to give some support to this hypothesis. They also suggest that Bw35 antigen may be important in human reproduction.

Abortion, Habitual↗
PubMed1979

Genetic polymorphisms and intrauterine development. Evidence of decreased heterozygosity in light-for-dates human newborn babies.

In 2 independent samples of low-birth-weight infants the proportion of females and homozygotes for a series of polymorphic systems was higher in light-for-dates than in preterm babies. The observation seems to give support to the hypothesis that homozygosity for 'normal' polymorphisms may decrease in general intrauterine growth rate. Since it is known that survival rate is strongly related to birth weight, a correlation between growth retardation and homozygosity may have a major role in the maintenance of such polimorphisms.

ABO Blood-Group System↗
PubMed1979

Sex ratio in man: an analysis of the relationship with ABO blood groups and placental alkaline phosphatase phenotype.

Secondary sex ratio (SR) in man is influenced by various genetic and environmental factors. It has been observed that SR in subjects of blood group B compatible with their mothers is higher than in other subjects. The analysis of 676 newborns of the Rome population and 1,684 newborns of the New Haven (Connecticut) population have confirmed a higher SR in B group subjects compatible with their mothers. The data also indicate that placental alkaline phosphatase is another genetic factor influencing SR in man and that there is a strong interaction among ABO phenotype, fetomaternal ABO compatible status and PAP phenotype concerning their effects on SR.

ABO Blood-Group System↗
PubMed1978

[Glycinamide derivatives of norbornane].

Three groups of glycinamides derivatived respectively from 4-aminomethyl-2,2,3-trimethylnorbornane, from 1-aminomethyl-2,2-dimethyl-3-methylennorbornane and from 1-aminomethyl-2,2,3-trimethylnorbornane are prepared and described.

Amides↗
PubMed1977

[Synthesis of pi-aminotricyclene].

In continuation of reasarch on polycyclic terpenoid amines and their derivatives, the synthesis of a new tricyclic amine: 7-methylamine-1,7-dimethyltricyclic[2,2,1,0(2,6)]heptane is described.

Amines↗
PubMed1977

[Study on the amide of 2-chlorobornan-4-carboxylic acid].

During the study of the transpositions undergone by the amide of canphen-4-carboxylic acid on treatment with concentrated hydrochloric acid, the formation of the amide of 2-chlorobornan-4-carboxylic acid alone, arising in two polymorphous forms, has been confirmed. Its reduction produced 2-chloro-4-aminomethylbornane; the detachment of hydrochloric acid at the amide of canphen-1-carboxylic acid.

Amides↗