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Biomedical subjects

E Bottini

Publications and source records attributed to E Bottini.

At least 37 records · Page 2Linked to original sources
PubMed2001

Maternal-fetal interaction in the ABO system: a comparative analysis of healthy mothers and couples with recurrent spontaneous abortion suggests a protective effect of B incompatibility.

We investigated the possible differential effects of A and B blood group materno-fetal incompatibility on human fertility through a comparative analysis of couples with recurrent spontaneous abortion (RSA) and healthy mothers. ABO phenotype was determined in 5180 healthy mothers and their newborn babies from the population of Sassari (Sardinia) and in 1359 healthy puerperae (women who have just given birth) from the population of Rome. Mother-newborn joint ABO distribution in healthy mothers was compared with wife-husband joint ABO distribution in RSA couples. Distortions from expected distribution were evaluated by symmetry analysis. In both RSA couples and healthy mothers significant deviation from expected symmetry patterns were observed. Deviations in RSA are in the opposite direction to those observed in healthy puerperae. The most important difference observed concerned the symmetric joint phenotypes mother (women) A/infant (husband) B (B incompatible) and mother (women) B/infant (husband) A (A incompatible). A low number of B incompatible in RSA couples and a high number of B incompatible in healthy mothers was observed. The phenomenon is much more evident in women aged 24-28 years, a period of maximum fecundity. It is possible that the presence of anti-B immunoglobulin in the mother might have a protective effect against fetal loss in some cases of mother-infant ABO incompatibility.

ABO Blood-Group System↗
PubMed2001

The genetics of signal transduction and the outcome of diagnostic tests in growth retardation.

The effects of 'normal' genetic variability of signal transduction on endocrine function may be more evident during stimulation tests than is observed in basal states, thereby contributing to a greater understanding of the possible role of signal transduction genetics in the pathogenesis of endocrine disorders. In the present study, we have studied the outcome of growth hormone (GH) stimulation testing by insulin in growth-retarded children in relation to the genotype of ACP1 (acid phosphatase locus 1; also referred to as cLMWPTP, cytosolic low molecular weight phosphotyrosine phosphatase). ACP1 is an enzyme, expressed as two distinct isoforms designated F and S, that down-regulates insulin receptor signal transduction and which shows a genetic polymorphism with strong quantitative enzymatic differences among genotypes. In this study, we examined 116 growth-retarded children of which 101 were genotyped for ACP1. We found that the basal level of GH is higher in ACP1 genotypes with low concentrations of the S isoform than in genotypes with high S isoform concentrations (P<0.02). Additionally, during GH stimulation with insulin, the genotypes with low S isoform concentrations were found to perform better (P<0.005) and to react more promptly than the genotypes with high S isoform concentrations (P<0.05). These findings suggest that high S isoform ACP1 activity slows down the effect of insulin, resulting in a retardation of its metabolic effect.

Acid Phosphatase↗
PubMed2000

A study of human growth hormone and insulin gene regions in relation to metabolic control of non-insulin-dependent diabetes mellitus.

The possible association of human growth hormone (hGH) and insulin (INS) gene regions with metabolic control in diabetes was investigated in 98 subjects with non-insulin-dependent diabetes mellitus (NIDDM); 54 control subjects from the same population were also studied. Two polymorphic restriction sites in the region of the hGH cluster (BGLIIA and BGLIIB) show significant association with both glycemic and hemoglobin A1c (HbA1c) levels. Mean values for plasma glucose and HbA1c show a maximum in the BGLIIA *1/*1 genotype and a minimum in the BGLIIA *2/*2 genotype. Mean values for plasma glucose and HbA1c show a maximum in the BGLIIB *1/*2 genotype. The BGLIIA*2/BGLIIB*1 haplotype shows a negative correlation with plasma glucose and HbA1c levels. Since the two markers are located in the area surrounding the hGH-V locus, the expression of this gene in NIDDM warrants further investigation.

Adult↗
PubMed2000

Perinatal consequences of maternal-fetal Rh blood group interaction in diabetic pregnancy: a nonimmunological perspective.

BACKGROUND: The recent discoveries about the structure of Rh protein that suggest a transport function and the recent observations of a positive correlation between Rh(D) protein and glycosylated hemoglobin levels in non-insulin-dependent diabetes mellitus prompted us to review our data on diabetic pregnancy to evaluate the perinatal consequences of maternal-fetal Rh blood group interactions in a metabolic perspective. SUBJECTS AND METHODS: One hundred thirty-two women with gestational diabetes and 120 women with preexisting insulin-dependent diabetes mellitus were examined. Three hundred eighty-seven consecutive nondiabetic puerperae from the same population were considered control subjects. RESULTS: In both gestational and insulin-dependent diabetes mellitus, an increased proportion of mother Rh(+)/newborn Rh(-) and a decreased proportion of mother Rh(-)/newborn Rh(+) joint phenotype has been observed. No deviation has been observed for joint phenotypes in which mother and newborn are similar [ie, Rh(+)/Rh(+) and Rh(-)/Rh(-)]. In the situation of mother Rh(+)/newborn Rh(-), there is a relatively lower rate of fetal loss and a decreased tendency to high birth weight. On the contrary, in pairs mother Rh(-)/newborn Rh(+) the fetus shows an increase of fetal loss and of tendency to high birth weight. CONCLUSIONS: The results are compatible with the hypothesis that when the density of Rh protein in the mother is higher than that in the fetus, the conceptus is relatively protected against the toxic effect of glucose. In the opposite genotypic combination (ie, density of Rh protein higher in the fetus than in the mother), the fetus is relatively more susceptible to these effects.

Birth Weight↗
PubMed2000

Incidence and nature of the most common rugby injuries sustained in Argentina (1991-1997).

OBJECTIVE: To study the incidence of the most commonly sustained injuries in Argentine rugby and analyse them according to type, position and age of the players, and phase and time of play. METHODS: A prospective registry of injuries was constructed in different provincial unions of Argentina. Data were collected during a whole weekend each year from 1991 to 1997. Chi2 with Yates correction test, contingency tables, odds ratios (OR), and 95% confidence intervals (CI) were calculated (Epi Info Version 6.04a). RESULTS: A total of 924 injuries were registered in 1296 rugby games, involving 38 933 players. The mean (SD) incidence per weekend was 2.4 (0.2)% (95% CI 2.22 to 2.53), and the number of injuries per season was 24,188. Overall, senior players suffered more injuries than those in younger divisions (OR = 1.53; 95% CI 1.34 to 1.76; p<0.0001). The most common type of injury was pulled muscles of the lower limbs (11.7%, p<0.0001). Overall, the knee was the most susceptible to injury (14.1%, p<0.0001). Senior players suffered more pulled muscles of the lower limbs (OR = 2.99; 95% CI 2.01 to 4.46; p<0.0001), ankle ligament distension (OR = 1.69; 95% CI 1.12 to 2.53; p = 0.01), knee trauma (OR = 1.69; 95% CI 1.06 to 2.68; p = 0.02), bleeding wounds on the face (OR = 3.86; 95% CI 2.24 to 6.70; p<0.0001), and knee ligament distension (OR = 2.14; 95% CI 1.16 to 3.96; p = 0.01). Younger players had a greater risk of suffering muscular or ligament injuries of the cervical column (OR = 3.0; 95% CI 1.05 to 10.08; p = 0.04). The forwards had a higher risk of injury (OR = 1.41; 95% CI 1.23 to 1.61; p<0.0001). The most commonly injured player was the flanker (15.5%, p<0.01), and the most common mechanism was in open play (33%). More injuries were sustained in the second half (OR = 1.17; 95% CI 1.03 to 1.34; p = 0.01). CONCLUSIONS: Injuries are the cause of significant morbidity among rugby players in Argentina. A more thorough investigation and a greater understanding of the mechanisms are crucial in order to update the rugby laws and reduce this high injury incidence.

Adolescent↗
PubMed2000

Rh system and intrauterine growth. Interaction with season of birth.

Based on the hypothesis that maternal-fetal genetic differences in membrane transport and signal transduction may influence intrauterine development, the recent acquisition on transport function of Rh protein prompted us to study the relationship between joint maternal-fetal Rh phenotype and birth weight. Considering that metabolic effect of maternal-fetal competition could be amplified by environmental conditions, we have investigated possible seasonal effects on such relationship. We have studied 5291 infants born in Sardinia in the period January 1993--December 1996 and 984 infants born in Rome during 1996. In Rh(-) mothers there is a significant association between season of birth and birth weight that shows the highest mean value in infants born in autumn (i.e. conceived in winter). The association is much more evident in male than in female infants. In male infants from Rh(-) mothers, the association between birth weight and season is significant in Rh(+) male newborns only. Recent observations by our group in NIDDM suggest that glucose transport in RBC may be related to D protein, thus we propose an interpretation of the present observation in terms of transport function. When the density of D protein in the infant is greater than in the mother, the balance is in favour of the infant who may attain a significant developmental advantage when conceived in the cold season.

Adult↗
PubMed1999

Association between cytosolic low molecular weight phosphotyrosine-phosphatase and malaria--a possible mechanism.

Cytosolic low molecular weight phosphotyrosine-phosphatase shows dephosphorylating activity of the band 3 protein. Increased phosphorylation of this protein increases membrane rigidity and resistance to invasion of red blood cells by malarial parasites. This observation may explain the negative association previously reported by our group between the high activity *C allele of cytosolic low molecular weight phosphotyrosine-phosphatase and past malarial morbidity.

Adolescent↗
PubMed1999

Adenosine deaminase and body mass index in non-insulin-dependent diabetes mellitus.

We studied 273 subjects with non-insulin-dependent diabetes mellitus (NIDDM) from the population of Penne, Italy. A low proportion of the adenosine deaminase (ADA)*2 allele is observed in NIDDM subjects with a body mass index (BMI) of 25 kg/m2 or less. On the contrary, a high proportion of this allele is observed in NIDDM patients with a BMI higher than 34 kg/m2. In the intermediate BMI class, the proportion of ADA*2 alleles does not differ significantly from that of normal subjects from the same population. No significant effect on the relation between ADA and BMI has been observed for the following variables: sex, age at the time of study, age at onset, therapy with insulin, and dyslipidemia. A borderline effect has been observed for the duration of disease. Several lines of experimental evidence suggest that an excess of adenosine A1 receptor activity may contribute to adiposity in NIDDM. ADA is a polymorphic enzyme that irreversibly deaminates adenosine to inosine, contributing to the regulation of intracellular and extracellular concentrations of adenosine. Since the activity of genotypes carrying the ADA*2 allele is lower than that of the more common genotype ADA*1/*1, genetic variability of the enzyme could contribute to degree of obesity in NIDDM. Our data also support attempts to ameliorate the metabolic control of diabetes through pharmacological modulation of adenosine receptors.

Adenosine Deaminase↗
PubMed1998

Adenosine deaminase and human reproduction: a comparative study of fertile women and women with recurrent spontaneous abortion.

PROBLEM: We have investigated the possible role of adenosine deaminase (ADA) genetic polymorphism in human fertility through a comparative study of couples with recurrent spontaneous abortion (RSA) and healthy puerperae. METHOD OF STUDY: Adenosine deaminase phenotype has been determined in 209 women with repeated episodes of unexplained spontaneous abortion (RSA) and their husbands, as well as in 115 healthy pregnant women from the population of Rome. An independent sample of 286 puerperae along with their newborn infants in the population of Penne was also studied. RESULTS: The proportion of carriers of ADA*2 allele, which is associated with the lowest enzymatic activity, is lower among women with RSA than among healthy pregnant women from the same population of Rome. Preliminary observations suggest a protective effect of ADA*2 against the development of autoantibodies in RSA. Such an effect seems to be mediated by an interaction with AB0 blood groups. In the population of Penne the proportion of women carrying ADA*2 allele is higher among those who have had two or more previously born children than among women with only one or no children. CONCLUSIONS: The data suggest that women carrying the ADA*2 allele are better protected against the spontaneous loss of embryos and have a higher fertility rate.

ABO Blood-Group System↗
PubMed1998

The genetics of signal transduction and the feto-maternal relationship. A study of cytosolic low molecular weight phosphotyrosine phosphatase.

Intracellular kinases mediate positive signalling from surface receptors by phosphorylating critical target proteins whereas phosphatases inhibit this process. Differential phosphatase activity at the feto-maternal interface could determine the appropriate relative growth and development on each side of the placenta. The highly polymorphic cytosolic low molecular weight phosphotyrosine-phosphatase (ACP1-cLMWPTPase) has been studied in 170 women who had at least two consecutive spontaneous abortions along with their husbands and in 352 normal puerperae along with their newborn babies. Symmetry analysis of joint wife/husband and mother/infant distribution suggests that when ACP1 activity is lower in the mother than in either her aborted fetus or her child, the probability of abortion is higher and the survival to term is lower as compared to pairs in which the ACP1 activity is higher in the mother than in her fetus. Further analysis has shown that the effect is due to S isoform: i.e. a high mother/fetus S isoform ratio favours intrauterine survival. Analysis of gestational duration and birth weight suggests that a high ACP1 maternal activity coupled with a low or moderate fetal activity favour fetal growth and developmental maturation. The present data indicate that maternal-fetal genetic differences in signal transduction could contribute significantly to variability of intrauterine developmental parameters and to pathological manifestation of pregnancy.

Abortion, Habitual↗
PubMed1997

ACP1 and human adaptability. 2. Association with season of conception.

We have studied the pattern of association between the season of conception and cytosolic low molecular weight phosphotyrosine phosphatase (ACP1) genetic polymorphism in 329 consecutively newborn infants from the population of Penne and 361 consecutively newborn infants from the population of Rome. In addition, 329 mothers were studied in the population of Penne. A concordant, highly significant association was observed in the two populations between ACP1 parameters and the season of conception of newborn infants. The total activity of ACP1 shows a minimum in infants conceived in January-February and a maximum in those conceived at the end of the solar year. Analysis of the joint mother-newborn ACP1 distribution in relation to the season of fertilisation has shown that among mothers carrying ACP1*A (the allele showing the lowest activity), the proportion of newborns carrying this allele is higher in those conceived in the first months of the year than in those conceived subsequently. Since ACP1 probably functions as a phosphotyrosine phosphatase and as a flavin mononucleotide phosphatase, low activity could enhance the metabolic rate and would be advantageous in a cold environment. The cycle of variation of ACP1 in infants follows the cycle of solar illumination. It is possible that individuals who have a genetic background allowing them to adapt easily and readily to seasonal demand are more successful in reproducing themselves. The population of zygotes conceived in a given season would therefore reproduce the pattern of gene combination more fit for that season.

Acclimatization↗
PubMed1996

Phosphotyrosine protein phosphatases and diabetic pregnancy: an association between low molecular weight acid phosphatase and degree of glycemic control.

Low molecular weight acid phosphatase encoded by the highly polymorphic locus ACP1 is a member of the protein-tyrosin phosphatase family (PTPases) which plays an essential role in the control of receptor signalling through phosphotyrosine pathways. Recent experiments have shown that purified rat liver ACP, corresponding to human ACP1, is able to hydrolyze a phosphotyrosine-containing synthetic peptide corresponding to the 1146-1158 sequence of the human insulin receptor, and shows a high affinity for it. This prompted us to analyze the degree of glycemic control in relation to ACP1 genetic variability in a sample of 214 diabetic pregnant women including IDDM, NIDDM and gestational diabetes. The ACP1 genotype was also determined in 482 non-diabetic pregnant women. In diabetic women glycemic levels in the last trimester of pregnancy appear to be significantly associated with the ACP1 genotype, and correlate positively with ACP1 enzymatic activity. The data suggest that quantitative variations of ACP1 may influence the clinical manifestations of diabetic disorders, and call for further studies on the role of this enzyme in the modulation of insulin-receptor phosphotyrosine pathways.

Acid Phosphatase↗
PubMed1996

Phosphotyrosine-protein-phosphatases and human reproduction: an association between low molecular weight acid phosphatase (ACP1) and spontaneous abortion.

ACP1 (low molecular weight acid phosphatase) genetic polymorphism has been studied in 173 women with a history of two or more consecutive spontaneous abortions and in 1508 control subjects, including 482 normal pregnant women. The proportion of carriers of ACP1*C allele (*A/ *C, *B/*C) in women with a history of repeated spontaneous abortion is lower than in normal pregnant women and other control groups. Women with repeated spontaneous abortion show a specific decrease of ACP1 S isoform concentration as compared to normal pregnant women. The other component of ACP1 activity, the F isoform, does not show a significant difference between the two groups. The data suggest that women with ACP1 genotypes showing a high concentration of S isoform are relatively 'protected' against spontaneous abortion. Preliminary analysis of a sample of 352 normal puerperae along with their newborn babies supports this hypothesis.

Abortion, Habitual↗
PubMed1995

Interaction of integrin alpha IIb beta 3 with multiple fibrinogen domains during platelet adhesion.

We have investigated how modulation of integrin alpha IIb beta 3 function influences the mechanisms that initiate platelet thrombus formation onto surface-bound fibrinogen and isolated fibrinogen domains. Under stationary conditions and with full activation of platelets blocked by prostaglandin E1, the carboxyl-terminal gamma 400-411 sequence is necessary for establishing initial contact with the immobilized substrate. Molecules containing a single copy of this sequence, like the plasmin-generated fibrinogen fragment D, support platelet spreading, but the resulting attachment to the surface is loose and disrupted by minimal peeling force. In contrast, platelets adhere firmly to intact fibrinogen under the same conditions, suggesting that recognition of contact sites outside a single D domain can secure the firm interaction not supported by a single gamma 400-411 sequence. If platelets are activated, the gamma 400-411 sequence is no longer necessary to initiate the adhesion process but becomes sufficient, even as a single copy, to mediate stable surface attachment in the absence of shear stress. Under conditions of flow, however, intact fibrinogen but not fragment D can support adhesion, regardless of whether platelets have the potential to become activated or not. These results indicate the functional relevance of multiple fibrinogen domains during the initial stages of the platelet adhesion process.

Alprostadil↗