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Biomedical subjects

E Bottini

Publications and source records attributed to E Bottini.

At least 73 records · Page 4Linked to original sources
PubMed1989

Erythrocyte acid phosphatase (ACP1) activity. In vitro modulation by adenosine and inosine and effects of adenosine deaminase (ADA) polymorphism.

Erythrocyte acid phosphatase (ACP1) activity was determined in the absence of modulators and in the presence of either adenosine or inosine as modulators in 154 samples of red blood cells collected from adult donors. Adenosine and inosine showed modulating effects (activation), that were genotype dependent in the allele order pb less than pa less than pc; the activation by inosine was much higher than by adenosine. The modulating effect was dependent on adenosine deaminase (ADA) genotype: In carriers of ADA2 allele the activation with ACP1 phenotype A was lower and that with phenotypes CA and CB was higher than in ADA1/ADA1 subjects. In addition, the basic ACP1 activity (i.e., without modulators) also appeared to be dependent on ADA genotype: The lowest ACP1 activity was observed in A and BA subjects carrying the ADA2 allele. Since the deamination of adenosine to inosine associated with ADA2-1 phenotype is slower than that associated with ADA1, the interaction of ADA on ACP1 activity may in fact be explained by a lower intracellular concentration of inosine in ADA2 carriers and, therefore, by a lower modulating effect of this on acid phosphatase activity.

Acid Phosphatase↗
PubMed1989

Age differences between distributions of genotypes among pregnant women: evidence of fertility selection.

The number of children produced by a modern woman is usually below her total reproductive capacity and is determined by circumstances other than natural selection. It is, therefore, practically impossible to detect differences in natural fertilities associated with different types (e.g. phenotypes, genotypes) of women. This does not mean, however, that natural selection at the reproductive level cannot at all be detected today. If women of a particular type have high natural fertility, this usually means that they reproduce (become pregnant) at a higher rate than women of a type with lower natural fertility. Hence, when there is a limit on the number of children, women of the first type will reach the limit at an earlier age than women of the second type. As a result, types that have a higher natural fertility should be overrepresented among pregnant women of younger ages and, consequently, underrepresented among older ones, as compared to types with a lower natural fertility. Based on this notion, a model of age-related differences between distributions of types among pregnant women is suggested. The model is applied to data on MNSs-blood group and PGM1 (phosphoglucomutase) types in a sample of pregnant women and an evidence of natural selection at the reproduction level associated with these genetic markers is obtained.

Adolescent↗
PubMed1989

Enzyme variability and neonatal jaundice. The role of adenosine deaminase and acid phosphatase.

A sample of children treated by phototherapy during the neonatal period has been studied in the population of Penne (South Eastern Italy) in order to confirm the association previously reported in newborns from the population of Rome between neonatal jaundice and phenotypes of adenosine deaminase (ADA) and acid phosphatase (ACP1). The present data confirm that the incidence of clinically relevant jaundice is much greater in newborns of phenotype ACP1 BA carrying ADA2 allele than in other infants. Since ACP1 probably acts as flavin mononucleotide phosphatase and is modulated by purine nucleotides, it is likely that enzymes of purine nucleotide metabolism (including ADA), ACP1 and flavoenzymes (including gluthatione reductase and enzymes of Krebs cycle), may represent a polygenic complex influencing bilirubin levels in the first few days of life.

Acid Phosphatase↗
PubMed1989

Enzyme polymorphism and clinical variability of diseases: a study of diabetes mellitus.

We investigated possible relations among four common neonatal manifestations of diabetic pregnancy (macrosomia, hypoglycemia, hypocalcemia, jaundice) and four enzyme polymorphisms (PGM1, ADA, AK1, ACP1 in a sample of infants born of diabetic mothers. The pattern of associations observed between the two sets of variables is consistent with known differences in enzymatic activity within phenotypes of each system, suggesting that low enzymatic activity may have unfavorable effects on fetal development and on adaptability of the neonate to the extrauterine environment, Some of the polymorphic enzymes studied influence fetal growth in normal pregnancy as well. Analysis of relations between genetic polymorphisms and the clinical pattern of common diseases may provide a better understanding of the genetic basis of the clinical variability of diseases within and between human populations.

Diabetes Mellitus↗
PubMed1987

Foetal macrosomia in diabetic pregnancy. Further data on the association with maternal PGM1 genotype.

The pattern of associations between maternal phosphoglucomutase locus 1 (PGM1) and foetal macrosomia in diabetic pregnancy has been compared with that observed in normal pregnancy. In diabetic pregnancy a substantial increase of macrosomic infants, as compared to normal pregnancy, is observed only among women homozygous for PGM1(1) allele. Also neonatal hypoglycemia is much more frequent in newborns from PGM1(-1) mothers than in newborns from other mothers. Since enzymatic activity of PGM1(-1) phenotype is lower as compared to other PGM1 phenotypes, this may influence glycaemic level and/or its stability in diabetic pregnant women with unfavourable effects on the metabolic and developmental patterns of the foetus.

Diabetes Mellitus, Type 1↗
PubMed1986

[Heterozygous beta thalassemia and gastrointestinal pathology].

A 29 month personal experience with patients clinically followed-up at the divisions of internal medicine and surgery of Comacchio Hospital, located in an area of high incidence of heterozygote Beta thalassemic carrier is presented. A greater predisposition of these heterozygote carriers to manifest duodenal ulcers and gastric neoplasms is noticed.

Cecal Neoplasms↗
PubMed1985

Serum haptoglobin appearance during neonatal period is associated with acid phosphatase (ACP1) phenotype.

Erythrocyte acid phosphatase (ACP1) is a polymorphic enzyme found in many tissues and acts in vivo as a flavin-mononucleotide phosphatase. We have recently observed a relation between this enzyme and length of gestation. The present study shows that the pattern of appearance of serum haptoglobin during the neonatal period is associated with ACP1 phenotype suggesting some important function of this polymorphic enzyme in human development.

Acid Phosphatase↗
PubMed1985

Interaction between adenosine deaminase and ABO system polymorphisms: effects on intrauterine survival and reproduction.

Adenosine deaminase (ADA) phenotype and ABO blood groups have been determined in 572 consecutive newborn infants, in 770 schoolchildren, in 139 women delivering a liveborn infant, and in 87 women with habitual abortion. ABO-incompatible newborn infants showed a higher proportion of ADA2 carriers as compared to compatible newborns. The incidence of clinically relevant neonatal jaundice among incompatible infants carrying ADA2 was lower as compared to compatible infants carrying this gene. In newborn infants, schoolchildren, and women with habitual abortion the proportion of A, B, and AB among ADA2 carriers was higher as compared to ADA1/ADA1 individuals. In fertile women, on the contrary, the proportion of A, B, and AB among ADA2 carriers was lower as compared to ADA1/ADA1 women. This suggests that non-O ADA2 carrier genotypes may lose in the reproductive stage the selective advantage accumulated during the early stages of development.

ABO Blood-Group System↗
PubMed1984

A genetic basis for heterogeneity of asthma syndrome in pediatric ages: adenosine deaminase phenotypes.

Wheezing in children is characterized by at least two major syndromes: "wheezing associated with respiratory infections" and "atopic asthma." The distinction between these two forms is not easy as similarities exist between them. The purpose of this study was to try to differentiate between them. We determined the phenotype of adenosine deaminase (ADA) in 291 children ages 1 mo to 15 yr who had been affected by attacks of wheezing recently requiring clinical attention. The results demonstrated that the frequency of 2-1 ADA phenotype was significantly reduced in wheezers compared to control subjects. Among wheezers, the 2-1 ADA phenotype was normally represented under 5 yr of age but was particularly rare among asthmatic children 5 to 15 yr old. Thus ADA phenotypes may represent a genetic basis for some of the heterogeneity of the asthma syndromes in children.

Adenosine Deaminase↗
PubMed1983

ABO system incompatibility: evaluation of risk of hyperbilirubinaemia at birth by multivariate discriminant analysis.

A discriminant analysis was performed on a set of maternal and neonatal variables to predict at birth the serum bilirubin levels during the neonatal period in infants incompatible with their mothers in the ABO system. The results suggest that the rational and simultaneous utilization of clinical and laboratory parameters allows, a few hours after delivery, a useful classification of these infants in low or high risk for hyperbilirubinemia.

ABO Blood-Group System↗
PubMed1983

Intrauterine death: an approach to the analysis of genetic heterogeneity.

A study of survival time of zygotes in utero and the relationship with parental phenotype of a series of genetic polymorphisms was carried out in 41 couples with habitual abortion. Variability of intrauterine survival time was found to be much higher between families than within families suggesting that several genetic entities contribute to the condition clinically defined as habitual abortion. Significant differences of survival time were found in relation to the length of the paternal Y chromosome and to the maternal phenotypes of PGM1 and Ss. These observations are in line with previous data suggesting intrauterine selection in these polymorphisms. Further studies of the timing of intrauterine death in relation to 'normal' genetic polymorphisms may help to clarify the aetiology of spontaneous fetal loss.

Abortion, Habitual↗
PubMed1982

Genetic polymorphisms and human reproduction: a study of phosphoglucomutase in spontaneous abortion.

Theoretical arguments suggest that variation of metabolic parameters due to genetically determined enzyme polymorphisms may exert important effects on implantation and zygote development. The polymorphic enzyme phosphoglucomutase controlled by locus 1 (PGM1) is a phosphotransferase which plays a key role in carbohydrate metabolism and it is present in high concentrations in placental tissue. The enzyme has been studied in 47 couples with habitual abortion, in 36 women with single episodes of spontaneous abortion, in 48 women with induced abortion, and in control samples of normal individuals from the same population. Among couples with habitual abortion a significant increase of mean survival time of fetuses was observed in PGM1-heterozygote mothers as compared to homozygotes. An increased proportion of couples which may produce the hypothetical PGM1-null phenotype was also observed in habitual abortion, which suggests that homozygosity for PGM10 allele may contribute to fetal loss. Investigations on polymorphic enzymes involved in placental and fetal metabolism may contribute significantly to the problem of genetic etiology of spontaneous abortion.

Abortion, Habitual↗
PubMed1982

Annotations on the hyperbilirubinaemia of ABO incompatible infants.

In ABO incompatible infants, a strong association between Coombs test positivity and hyperbilirubinaemia in the first few days of life has been recorded in all samples studied. A remarkable variability between ethnic groups and between different series of infants from the same group has been also observed. A discriminant analysis carried out on several maternal and neonatal variables in two samples of ABO incompatible infants has shown that the Coombs test is the most important predictor of jaundice. Gestational age and birth weight in white and birth weight in black infants gave also important and independent contributions as discriminating variables. Among ABO incompatible black infants the incidence of hyperbilirubinaemia was higher than among ABO incompatible white infants. Discriminant analysis suggests the genetic and environmental factors which predispose to jaundice the ABO incompatible black infants may act mainly through immunological and developmental mechanisms accounted for by Coombs test, gestational length and birth weight.

ABO Blood-Group System↗