Search PubMed⌕ Search

Biomedical subjects

E Bottini

Publications and source records attributed to E Bottini.

143 records · Page 8Linked to original sources
PubMedDate not supplied

Phosphoglucomutase genetic polymorphism of newborns.

An association of the phosphoglucomutase locus 1 (PGM1) genetic polymorphism with repeated spontaneous abortion (RSA), with intrauterine development in both normal and diabetic pregnancies, and with fertility has been reported in previous studies. In view of the evolutionary interest and of a possible clinical relevance of PGM1 selection during intrauterine life, this study considers healthy puerperae, consecutive newborns, and couples with RSA as well as two alleles (PGM1*1 and PGM1*2). The joint maternal-neonatal PGM1 distribution in a sample from an Italian rural population is significantly different from that expected assuming Hardy-Weinberg conditions for equilibrium. Deviation is dependent on maternal age and parity. The joint mother-newborn PGM1 genotype distribution is significantly associated with a positive history of previous spontaneous miscarriage, suggesting that the presence of the PGM1*2 allele in the father predisposes to spontaneous abortion. This hypothesis is also supported by the observation that in couples with RSA, the delivery of a live born infant within 5 years from the first episode of miscarriage is negatively associated with the presence of a PGM1*2 allele in the husband. Altogether these observations suggest the hypothesis of PGM1 maternal selection at the reproductive level involving a differential role of PGM1*1 and PGM1*2 alleles of paternal origin.

Abortion, Habitual↗
PubMedDate not supplied

Enzyme polymorphisms, smoking, and human reproduction. A study of human placental alkaline phosphatase.

We investigated the possible effects of placental alkaline phosphatase (PLAP) genotype on the deleterious action of maternal smoke on intrauterine survival and birthweight. PLAP is a highly polymorphic enzyme with several alleles associated with different enzymatic activities. PLAP is produced by the embryo and is found in maternal blood, where it is responsible for the rise of serum alkaline phosphatase during pregnancy. Two hundred and fourteen Caucasian consecutive newborn infants delivered in the Maternity Department of the University of Rome La Sapienza Hospital were studied. Infants from smoking women 28 years or older show a strong decrease of both PLAP*1/*1 and *2/*2 homozygous types and a marked deviation from Hardy-Weinberg expectation, thus suggesting a different lethal effect of smoke depending on PLAP genotype and maternal age. In infants from smoking mothers there is a decrease of birthweight that is much less evident and statistically not significant in infants carrying the PLAP*1/*1 genotype as compared to other genotypes. The difference between PLAP genotypes concerning birthweight is more marked in women older than 28 years than in younger ones. This suggests that the effects of smoke on birthweight are also dependent on PLAP and maternal age.

Adult↗
PubMedDate not supplied

Birth weight and parental PGM1 alleles.

A deviation of the maternal-neonatal joint phosphoglucomutase locus 1 (PGM1) distribution from Hardy-Weinberg expectation has been reported. It was suggested that selection on PGM1 during intrauterine life might account for these deviations and that maternal and paternal PGM1 alleles might have different associations with intrauterine survival. This study considered possible associations between the joint mother-newborn PGM1 genotype and intrauterine growth. There was a significant association between birth weight percentile class and mother-newborn PGM1 genotype in infant females. Also, the paternal PGM1*2 allele was associated negatively with macrosomia, and this effect was significant only in female infants.

Alleles↗
PubMedDate not supplied

ACP1 and human adaptability: association with past malarial morbidity in the Sardinian population.

Acid Phosphatase locus 1 (ACP1) is a polymorphic enzyme controlled by a locus on chromosome 2 with three common codominant alleles: *A, *B, and *C. ACP1 shows two major isoforms, F and S. The ratio of their concentration differs markedly among genotypes. Two functions have been proposed for the enzyme: flavin-mononucleotide phosphatase and tyrosine phosphatase activity. An association between ACP1 polymorphism and past malarial morbidity in Sardinia and the Po Valley has been described. Genetic polymorphisms could contribute to natural resistance or susceptibility to the disease. On the other hand, malaria pressure may select for genes that increase susceptibility to common diseases of modern civilization. Thus, the association between ACP1 and malaria in Sardinia in the light of recent understanding of the function of ACP1 and the molecular basis of malaria pathophysiology, especially aspects of the structure of band 3 protein (B3P) and the role of cytokines have been revisited. There is a significant negative correlation between ACP1 S isoform concentration, directly related to the ACP1*C allele, and past malarial morbidity in Sardinia. Populations subjected in the past to a heavy malarial burden show, at present, a lower concentration of the S isoform compared to a nearby malaria-free population, suggesting that genotypes with high S isoform concentration have been subjected to negative selection in a malarial environment. Correlation analysis and analysis of the joint G-6-PD/ACP1 distribution suggest that the relationship between past endemic malaria and the S isoform has not been mediated by glucose-6-phosphate dehydrogenase (G-6-PD) deficiency, thus pointing to a direct effect of malaria on ACP1.

Acclimatization↗
PubMedDate not supplied

Risk of type 1 diabetes in childhood and maternal age at delivery, interaction with ACP1 and sex.

BACKGROUND: We have investigated the possible role of ACP1 (also known as cLMWPTP: cytosolic low molecular weight phosphotyrosine phosphatase), a highly polymorphic enzyme involved in signal transduction of T-cell receptor, insulin receptor and other growth factors in the relationship between maternal age at delivery and risk of type 1 diabetes in the offspring. METHODS: One hundred and eighty-nine consecutive children with type 1 diabetes (TIDM) diagnosed at the Department of Pediatrics of the University of Sassari (Sardinia) were studied. A control sample of 5460 consecutive newborns from the same population was also studied. RESULTS: Maternal age at birth of children with type 1 diabetes has shifted towards high values. There is also an effect of birth order on the susceptibility to type 1 diabetes, which is independent of that due to maternal age. The proportion of low activity ACPl genotypes is much higher among children born from older mothers than among diabetic children born from relatively young mothers. There is a significant effect of sex, maternal age, sex-ACPl two-way interaction and sex-ACP1-maternal age three-way interaction on the age at diagnosis of diabetes. CONCLUSIONS: The present data confirm the strong association between maternal age at delivery and risk of type 1 diabetes in the child. In addition, our analysis suggests a complex interaction among maternal age, sex of infant and ACP1 concerning age at diagnosis of diabetes. Thus, risk and clinical course of type 1 diabetes seem to be dependent on both maternal environment during intrauterine development and foetal genetic factors.

Adult↗
PubMedDate not supplied

Phosphoglucomutase genetic polymorphism and human fertility.

We studied the phosphoglucomutase phenotype in relation to fertility parameters in a consecutive series of 204 women who had delivered a normal live-born child in Rome. A highly significant association was found between age of the women and phosphoglucomutase phenotype, suggesting a reduced rate of reproduction among women of phosphoglucomutase Type 1. Previous spontaneous abortion appears related to both age and phosphoglucomutase enzymatic type. An increased incidence of abortion in women of older ages was observed only in phosphoglucomutase Type 1. Gestational duration and fetal intrauterine growth rate are also significantly associated with maternal phosphoglucomutase phenotype. The pattern is complex, but also in this instance the influence of maternal age was evident. Considered altogether, the data suggest that phosphoglucomutase may have an important role in zygote development and survival through the whole span of intrauterine life.

Abortion, Spontaneous↗
PubMedDate not supplied

Both maternal and foetal genetic factors contribute to macrosomia of diabetic pregnancy.

The study of 230 diabetic mothers along with their newborn babies has shown that foetal macrosomia is associated with two specific genomic sites: phosphoglucomutase locus 1 (PGM1)-Rhesus blood group (Rh) linkage group (chromosome 1) and HindIII restriction fragment length polymorphism (RFLP) linked to insulin-like growth factor 1 (IGF1) (chromosome 12). In PGM(1)2-1 mothers carrying the E allele, there is a proportion of 8.7% of macrosomic newborns as compared with 39.6% in mothers with other genotypes. The relationship between the maternal PGM1-RhE genotype and neonatal macrosomia does not depend on the type of diabetes. The proportion of macrosomic infants is much lower among newborns carrying the IGF1HS allele of the HindIII RFLP linked to IGF1 (20%) than among IGF1F/IGF1HF newborns (55%).

Chromosomes, Human, Pair 1↗
PubMedDate not supplied

Severe preeclampsia in antithrombin III deficiency with no history of venous thromboembolism.

Complications of pregnancy, such as preeclampsia, placental abruption, fetal growth retardation, still-birth and fetal death are associated with an increased frequency of pro-thrombotic abnormalities. We describe a case of severe preeclampsia and multiple placental infarctions in a 28-year-old woman at 31 weeks' gestation. Despite a negative personal history for venous thromboembolism, coagulation screening for thrombophilia detected an isolated antithrombin III deficiency. In view of the high prevalence of pro-thrombotic complications, laboratory screening for thrombophilia would be advantageous in women with complicated pregnancies, to ensure adequate management in high-risk situations, as suggested by larger-scale clinical investigations.

Adult↗
PubMedDate not supplied

[Acute renal failure caused by VIP-secreting tumor].

A 74-year-old woman had secretory diarrhea, severe metabolic acidosis, hypokalemia, hypovolemia, and acute renal failure caused by a pancreatic vasoactive intestinal polypeptide (VIP)-secreting tumor. Vipoma is a rare neuroendocrine tumor. Morbidity and mortality are related to long-standing dehydration and electrolyte and acid-base disturbance resulting in acute renal failure. Diagnosis requires the documentation of large volumes of secretory diarrhea, elevated VIP plasma levels, and the localization of the VIP-secreting tumor. Metastases are present in 50% of patients at the time of diagnosis. Treatment includes correction of volume, electrolyte, and metabolic abnormalities; CVVH during ARF; pharmacotherapy to decrease gastrointestinal secretion; and surgical resection of the vipoma.

Acute Kidney Injury↗
PubMedDate not supplied

[Type 2 diabetic nephropathy: clinical course and prevention proposals 2004].

The first clinical evidence of nephropathy is the appearance of low, but abnormal, albumin levels in the urine (>30 mg/day or 20 mg/min), microalbuminuria. Without specific interventions, approximately 80% of type 1 diabetics have their urinary albumin excretion increase at a rate of 10-20%/yr to the stage of overt nephropathy or clinical albuminuria (>300 mg/24h or >200 mg/min) over 10-15 yrs, developing hypertension along the way. Approximately 30% of individuals with type 2 diabetes are found to have microalbuminuria or overt nephropathy shortly after the diagnosis of their illness, because diabetes is actually present for many years previously and because the presence of albuminuria can depend on other concomitant nephropathies, as shown by biopsy studies. Without specific intervention, 20-40% of type 2 diabetic patients with microalbuminuria progress to overt nephropathy, but 20 yrs after onset only 20% progress to end-stage renal failure (ESRD). The rates of decline in glomerular filtration rate (GFR) are highly variable from one individual to another, but they may not be substantially different between patients with type 1 and type 2 diabetes. As therapies and interventions for coronary artery disease continue to improve, more elderly type 2 diabetes patients can be expected to survive long enough to develop renal failure. The recently published Italian Society of Nephrology (SIN) guidelines for diagnosis and therapy of diabetic nephropathy present the route for the best strategies in prevention and therapy, from earlier onset to advanced ESRD.

Diabetes Mellitus, Type 2↗
PubMedDate not supplied

Further studies on acid phosphatase in obese subjects.

Low activity genetic variants of acid phosphatase (ACP1) are positively associated with extreme body mass deviations in obese subjects. The same pattern has been found in non-diabetic children, in diabetic pregnant women, and in non-diabetic adult subjects. Low activity variants of ACP1 also show a positive association with family history of obesity, supporting the hypothesis of an enhancing action of these variants on expressivity of obesity.

Acid Phosphatase↗
PubMedDate not supplied

Prevention of hemoperitoneum during ovulation by oral contraceptives in women with type III von Willebrand disease and afibrinogenemia. Case reports.

The follicle ruptures at the time of ovulation and fills with blood, forming a corpus hemorrhagicum. Minor bleeding from the follicle into the abdominal cavity may cause peritoneal irritation and, when it occurs in a patient with a defect of primary hemostasis, hemoperitoneum can occur. Von Willebrand disease and afibrinogenemia are two important bleeding disorders in which both primary hemostasis and coagulation are involved. Bleeding during ovulation is one major clinical complication in women with these disease. We have studied three patients with this hemorrhagic complication. Our data show that oral contraceptives are an effective way to avoid hemoperitoneum.

Adult↗
PubMedDate not supplied

Foetal macrosomia and erythrocyte acid phosphatase (ACP1) polymorphism in diabetic and normal pregnancy.

Both in diabetic and in normal pregnancy the proportion of macrosomic fetuses is much lower among newborns carrying Pc allele of erythrocyte acid phosphatase (ACP1) than among other ACP1 genotypes. In diabetic pregnancy the well known increased incidence of fetal macrosomia has been observed only among fetuses which do not carry this allele. ACP1 probably functions as a flavin-mononucleotide phosphatase. Since Pc allele is associated with the highest enzymatic activity it is likely that subjects carrying this gene may have a relatively lower concentration of flavin-mononucleotide cofactors and in turn a reduced rate of metabolic activities controlled by flavoenzymes. It is possible that in fetuses carrying Pc, flavo-enzyme activities are regulated at a level that does not allow a full response to stimuli (both genetic and/or environmental) aimed to maximize fetal growth.

Acid Phosphatase↗