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P Saccucci

Publications and source records attributed to P Saccucci.

At least 19 recordsLinked to original sources
PubMed2006

ACP1 and offspring sex ratio in smoking puerperae: a study at population level.

BACKGROUND: Data from previous study by our group suggest that in smoking women sex ratio of offspring is higher in newborns carrying ACP1C allele than in other ACP1 genotypes, suggesting that differences observed among human population concerning the effect of smoking may depend in part on this genetic factor. OBJECTIVES: In order to further explore this issue we have studied another population and have analysed the relationship between sex ratio and ACP1C gene frequency at population level. METHODS: The analysis includes 719 consecutive births from Central Italy considered in a previous paper and 5510 consecutive births from Sardinia. Data from English and Japanese populations have also been considered in the analysis. RESULTS: Among newborns not carrying ACP1C there is a decrease of SR among the offspring of smoking mothers, while among newborns carrying the ACP1C allele there is an increase of SR among the offspring of smoking mothers relative to non-smoking mothers. Considering Sardinian, Italian, English and Japanese population there is a linear positive relationship between C allele frequency and SR in smoking mothers. CONCLUSIONS: The present observation suggests an interaction between smoking and ACP1 regarding their effects on sex ratio, by which the presence of the ACP1C allele appears to counteract the effect of smoking. This suggests that genetic background may modify the effects of toxic environmental factors on gamete production and functionality and/or on intrauterine survival.

Adult↗
PubMed2006

Feto-maternal ACP1 activity ratio and intrauterine survival.

OBJECTIVE: Genetic differences in the activity of phosphotyrosine phosphatases between mother and embryo could result in a differential activation of signals induced by growth factors in the two sides of placenta. Previous observations suggest that this may have important effects on intrauterine development and survival. The aim of the present study is to confirm previous observations and show new data. STUDY DESIGN: We have studied 573 mother/newborn pairs, 169 wife/husband couples with repeated spontaneous abortion and 34 fertile wife/husband couples RESULTS: In mother/newborn pairs, the analysis of joint mother/infant ACP1 distribution has shown a deficit of pairs with the mother having low ACP1 S isoform concentration and the infant having high S isoform concentration, and an excess of pairs with the mother having high S isoform concentration and the infant having low S isoform concentration. In RSA couples there is an excess of couples in which the wife has low S isoform concentration and the husband has high S isoform concentration and a deficit of couples in which the wife has high S isoform concentration and the husband has low S isoform concentration. In fertile couples the pattern is reversed. CONCLUSION: The data suggest that when the mother to fetus S isoform concentration ratio is in favour of the mother, the probability of survival of the fetus is greater than in the opposite situation.

Abortion, Habitual↗
PubMed2006

Genetic polymorphism within human growth hormone gene region and BMI in type 2 diabetes.

Currently there is a surge of interest in the association of obesity with growth hormone (GH). Our hypothesis is that genetic variation within the hGH area could predispose to obesity in type 2 diabetes. We examined 68 Caucasian subjects with type 2 diabetes from the central area of Continental Italy. In these subjects we examined four polymorphic loci (Msp1A, Msp1B, BglIIA and BglIIB) located in the hGH gene region (chromosome 17q22-9-24). A sample of 192 adults from the population of Central Italy were studied as controls. Msp1B and Msp1A polymorphisms are associated with BMI. For both polymorphisms the proportion of overweight subjects is greater in the *1/*1 genotype than in carriers of the *2 allele (97% vs. 79% and 94% vs. 86% respectively). For both polymorphisms, the mean value of BMI is greater in the *1/*1 genotype than in carriers of the *2 allele. The mean values of age at onset of diabetes are greater in Msp1B*1/*1 and Msp1A*1/*1 genotypes than in carriers of the *2 allele. BglIIA and BglIIB polymorphisms are not associated with being overweight. The present study suggests that the structural organisation of the hGH genomic area may have an important role in being overweight associated with type 2 diabetes.

Body Mass Index↗
PubMed2006

ADA polymorphisms and asthma: a study in the Chinese Han population.

We have studied a sample of 120 asthmatic patients and 116 healthy control subjects from the Chinese Han population. Three polymorphic sites: ADA(1), ADA(2), and ADA(6), within the ADA gene have been examined. The proportion of carriers of *2 allele at locus ADA(1) is drastically reduced in asthmatics as compared to controls. There is an epistatic interaction of ADA(2) on the ADA(1) site characterized by a suppressive effect by the *2 allele of ADA(2) on the protective effect exerted by the *2 allele of ADA(1) site on susceptibility to asthma. Our data suggest the presence of some DNA sequences influencing the susceptibility to asthma are located in the area between ADA(1) and ADA(2) sites.

Adenosine Deaminase↗
PubMed2005

Genetic polymorphism and TH1/TH2 orientation.

BACKGROUND: It is likely that besides developmental and environmental factors, genetic factors also play an important role in Th1/Th2 orientation and susceptibility to related disorders. Thus, for each genetic factor involved one would expect an opposite pattern of susceptibility towards Th1- and Th2-associated diseases. METHODS: We report a comparative analysis of the pattern of association of four genetic polymorphisms with bronchial asthma (Th2 disease) and Crohn's disease (CD; Th1 disease). The study population included 291 Roman children with bronchial asthma and 72 adult Romans with CD, and haptoglobin, adenosine deaminase (ADA), acid phosphatase locus 1 (ACP1) and MN phenotypes were determined. RESULTS: Compared with controls from the same population, the pattern of phenotype association observed in bronchial asthma is exactly opposite to that observed in CD. The analysis of pairwise gametic type distribution for ACP1, ADA and MN polymorphisms has shown that the pattern of differences between bronchial asthma and controls is opposite to that observed between CD and controls. CONCLUSIONS: The pattern of differences between bronchial asthma versus CD is compatible with the hypothesis that some of the genetic systems considered contribute to Th1/Th2 orientation.

Adenosine Deaminase↗
PubMed2004

Convulsive disorder and genetic polymorphism. Association of idiopathic generalized epilepsy with haptoglobin polymorphism.

Haptoglobin is a polymorphic protein that is well known for its hemoglobin (Hb)-binding property. The protein shows gross differences in molecular size among genotypes, resulting in different degrees of diffusion in central nervous system tissue. Since the breakdown of erythrocytes in the intracerebral fluid results in Hb-mediated free OH radical formation, lipid peroxidation, and increased neuronal excitability, a differential diffusion of haptoglobin phenotypes in the intracerebral fluid might result in a different degree of protection from oxidative damage. We have studied two samples of children with idiopathic generalized epilepsy from two different Italian populations. In both samples the haptoglobin *1/*1 genotype is much less represented in epileptic children than in controls. These observations suggest that subjects carrying the Hp*1/*1 genotype, that has the lowest molecular size and diffuses more readily in the interstitial cerebral fluid, are more protected against idiopathic generalized epilepsy than those with other haptoglobin genotypes.

Adult↗
PubMed2003

Genetic control of serum IgE levels: a study of low molecular weight protein tyrosine phosphatase.

Protein tyrosine phosphatases (PTPases) have recently been recognized as important modulators of various signal transduction pathways in immune cells. Genetic polymorphisms have been described in genes codifying for members of this family of enzymes, and the genetics of PTPases is predicted to play an important role in the etiology of immune diseases and of their clinical variability. The low molecular weight protein tyrosine phosphatase (ACP1 or LMPTP) is one of the few PTPases with a known genetic polymorphism, and has been proposed to be associated with atopic dermatitis in a small sample from an Italian population. In this paper we describe the association of the ACP1 polymorphism with total IgE levels in two independent samples from English and Italian populations. In both the samples the mean value of serum IgE is lower among subjects carrying the BC genotype than in other ACP1 genotypes. The BC genotype is associated with the highest total ACP1 enzymatic activity. Our data suggest that one or both of the ACP1 isoforms exert an inhibitory role on some signal transduction pathway relevant for IgE hyperproduction.

DNA Primers↗
PubMed2002

Low molecular weight PTP-IL-4RA interaction in atopy predisposition.

We recently described a protective effect of the low molecular weight protein tyrosine phosphatase (LMPTP) BC genotype, associated with the highest total enzymatic activity, against high serum IgE levels both in the English and the Italian populations. Here we test the hypothesis of a role of LMPTP in the negative modulation of IL-4 signal transduction checking for genetic interaction between interleukin-4 receptor alpha chain (IL-4RA) genetic polymorphisms and LMPTP polymorphism in the predisposition to high total IgE levels in the English population. We find a significant interaction between LMPTP polymorphism and the intracellular Gln/Arg polymorphism in position 551 of IL-4RA. Our data support the hypothesis of a direct or indirect biochemical interaction between LMPTP and IL-4RA resulting in different modulation of IL-4 signal transduction among joint genotypes.

Asthma↗
PubMed2002

IL-4 receptor alpha chain genetic polymorphism and total IgE levels in the English population: two-locus haplotypes are more informative than individual SNPs.

The IL-4RA locus encodes for the alpha chain of the IL-4 receptor, and is both a functional and positional candidate gene for atopy and allergic disease. Recently Ober et al. have shown that the study of haplotypes at multiple loci in the IL-4RA gene could be more informative than the separate study of single nucleotide polymorphisms (SNPs). One hundred and fifty subjects affected by atopic asthma and 150 healthy control subjects were studied in the English population (Oxford district). Subjects and controls were genotyped for the Ile50Val, Ser478Pro and Gln551Arg polymorphism of the IL-4 receptor alpha chain. The distribution of haplotypes 50-478 shows a highly significant association with IgE levels. In particular, the haplotype Val50/Pro478 is much less frequent in subjects with IgE levels > 100 U mL-1 than in those with IgE levels < 100 U mL-1. Furthermore, the distribution of haplotype 50-551 shows a weak association with IgE levels that is lacking for 478-551 haplotypes. A lower frequency of the Val50/Pro478 haplotype is also observed among asthmatic subjects as compared to healthy controls. With regard to individual SNPs (50 478 and 551), no significant association has been observed with IgE levels or with asthma, thus confirming the higher informative value of the haplotype analysis as compared to separate study on SNPs.

England↗
PubMed2002

Preliminary report: BGLIIA-BGLIIB haplotype of growth hormone cluster is associated with glucose intolerance in non-insulin-dependent diabetes mellitus and with growth hormone deficit in growth retardation.

We studied 101 growth-retarded children from the population of Ancona (Italy). Plasma growth hormone (GH) levels at the end of insulin and clonidine tests were considered for classification of children into 3 categories according to severity of GH deficit: total deficit of GH (TD), partial deficit (PD, and familiar short stature (FSS; no deficit of GH). The BGLIIA*2/BGLIIB*1 haplotype of GH cluster that was previously found to be negatively associated with severe glucose intolerance in non-insulin-dependent diabetes mellitus (NIDDM) is negatively associated with GH deficit in growth-retarded children. The hypothesis that intrauterine growth retardation and glucose intolerance in adult life could be phenotypes of the same underlying genotype has been recently put forward. The present observation suggests that genes influencing both growth and glucose tolerance are encoded in the GH cluster.

Adult↗
PubMed2001

Autism: evidence of association with adenosine deaminase genetic polymorphism.

Reduced adenosine deaminase (ADA) activity has been reported in sera of autistic children relative to controls. Additionally, the Asn allele of the ADA Asp8Asn polymorphism has been associated with reduced enzymatic activity. Therefore, we studied this polymorphism in autistic children and controls from two Italian populations. We observed a significantly elevated frequency of the low-activity Asn allele in the total sample of autistic cases relative to controls (P < 0.00001), and in both study populations (P < 0.001 and P < 0.025). We suggest that this putative genotype-dependent reduction in ADA activity may be a risk factor for the development of autism.

Adenosine Deaminase↗
PubMed1996

Rapidly progressive squamous cell carcinoma of the cervix in a patient with acquired immunodeficiency syndrome: case report.

Recent evidence suggests an association between cervical condyloma, dysplasia and HIV infection. However, the course of cervical cancer in immunodeficient patients has not yet been thoroughly researched. Cervical cancer presently amounts to 1% of the causes of death in AIDS patients. This percentage is bound to increase not only because an improved life expectancy has been obtained, but mainly because the virus is widely spreading among the female population. A 28 year-old AIDS patient, parity 1/0/1/1, underwent gynecological examination and colposcopy following an episode of vaginal bleeding. Biopsy revealed an invasive cervical carcinoma. The last gynecologic investigation, which included a Pap smear and colposcopy, was performed 14 months earlier and resulted negative. Cytologic reexamination of the specimen confirmed the previous Pap smear result. Proctoscopy and cystoscopy showed no mucose involvement. Urography was negative. The cat scan indicated minor spleen and liver enlargement but no signs of malignant abdominal spread were found. The neoplasia was classified as a stage IIB cervical carcinoma (according to the FIGO classification) due to the spread to the left cardinal ligament. In spite of radiation therapy, the disease rapidly progressed leading to a monolateral ureteral involvement which created a juxtavescical stenosis. The patient died three months later. Necroscopic examination revealed lung metastasis. Such a rapidly progressive form of cervical cancer could be related to the acquired immunodeficiency condition. Recurrent cytological and colposcopic examinations are to be considered mandatory in HIV patients.

Acquired Immunodeficiency Syndrome↗
PubMed1996

[Hysteroscopic features in postmenopausal uterine bleeding].

One hundred forty three patients underwent hysteroscopy for abnormal uterine bleeding from January 1993 through December 1994. Sixty patients were postmenopausal. All but 3 of the procedures were performed on outpatient with no significant complications. Three groups could be identified on the basis of endometrial features (color, vascularity, thickness, necrotic areas): 1) negative for cancer, 2) possible or suspect (low or high risk), 3) carcinoma. Biopsy indicated cancer in one of the 16 doubtful cases, and in all (5) of the hysteroscopically diagnosed cancers. Outpatient Hysteroscopy successfully substitutes D&C (dilatation and curettage) for early diagnosis of endometrial cancer.

Adult↗
PubMed1989

Can pregnancy aggravate the course of non-Hodgkin's lymphoma?

The Authors present three cases of Non-Hodgkin's Lymphoma (NHL) in pregnancy and discuss about problem of diagnosis and management of NHL in this condition. They stress that the diagnosis of NHL in pregnancy is delayed and the clinical progression of lymphoma is probably influenced by hormonal and immunological changes occurring during pregnancy. On the other hand the management of NHL is problematic because radiotherapy is potentially teratogenic. (By editorial staff).

Adult↗
PubMed1984

Clinical and histopathological review of 24 cases of sarcoma of the corpus uteri.

The Authors report their experience in 24 cases of sarcoma of the corpus uteri observed between 1971 and 1981. After pointing out that their experiences confirm the extreme rareness of these neoplastic forms they dwell on diagnostic, prognostic and histologic criteria of classification and conclude that sarcomas of the corpus uteri - mostly leiomyosarcomas - of fibromatous origin - are always potentially very malignant with low 5-year survival rates despite combined treatment with surgery + radiotherapy + antiblastic therapy.

Adult↗
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↗