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Biomedical subjects

A Pugliese

Publications and source records attributed to A Pugliese.

At least 91 records · Page 5Linked to original sources
PubMed1993

Variability of the Brachmann-de Lange syndrome.

Brachmann-de Lange syndrome (BDLS) is a relatively common multiple congenital anomaly/mental retardation syndrome, whose cause is unknown. The clinical variability of this condition is well-known. Recently some reports suggested the possible existence of a mild BDLS phenotype. We report on 30 patients in whom a diagnosis of BDLS was made or strongly suspected in 12 different Italian hospitals. Based on clinical evaluation we divided them into two groups, classical and mild BDLS cases. We compare the clinical data of these patients and we discuss the problems which arise in trying to define clear criteria of distinction between these two groups.

Adolescent↗
PubMed1993

Interferon-gamma levels in serum and bronchoalveolar lavage fluid of mice infected with Bordetella pertussis.

The adherence of Bordetella pertussis to respiratory cilia and its survival in neutrophils and macrophages is crucial to the pathogenesis of whooping cough. To investigate the role of endogenous interferon (IFN)-gamma in acute infection, levels of IFN-gamma in bronchoalveolar lavage (BAL) fluid of mice infected intranasally with B. pertussis were determined. Since pertussis toxin is released during infection by B. pertussis either locally or systemically, serum levels of IFN-gamma in mice injected intravenously with pertussis toxin were also determined. A persistent and significant increase of IFN-gamma levels with concomitant peripheral blood lymphocytosis was observed after 5 and 10 days. The results of this study showed an early but transitory production of endogenous IFN-gamma in BAL fluid of mice infected with B. pertussis.

Animals↗
PubMed1993

Gametic association of HSP70-1 promoter region alleles and their inclusion in extended HLA haplotypes.

Gametic associations of a three-allele polymorphism of the HSP70-1 promoter region were analyzed in a random North Italian population, in 69 HLA homozygous cell lines and in 29 families in Boston, all typed for HLA class I, class II and complement alleles. Significant phenotypic associations were detected in the random population between HSP70-1 alleles and several HLA markers carried by extended haplotypes. The inclusion of HSP70-1 alleles in extended haplotypes, suggested by population analysis, was confirmed in genotyped cells, including 10W HLA homozygous cell lines and families, selected for the presence of the whole set of alleles reported for conserved extended haplotypes. Every tested extended haplotype was exclusively associated with a given HSP70-1 allele, except those carrying DR1. HSP70-1 C was included in both [HLA-B8, SC01, DR3] and [HLA-B18, F1C30, DR3] extended haplotypes, accounting for the previously observed strong association with DR3. In addition the same allele was found on the [HLA-B13, SC31, DR7], on the [HLA-B62, SB42, DR4] and on the [HLA-B60, SC02, DR13] extended haplotypes. The HSP70-1 A allele was carried by all DR4+ extended haplotypes except the one above cited. HSP70-1 B correlated with DR10, DQB1*0501 and BF*F. Thus the HSP70-1 promoter alleles provide new precisely located markers of extended haplotypes.

Alleles↗
PubMed1993

Association of HLA-DQB1*0201 with stiff-man syndrome.

Stiff-man syndrome (SMS) is a rare disorder of the central nervous system of probable autoimmune origin. Patients with SMS often have other autoimmune diseases, in particular type I (insulin-dependent) diabetes mellitus (IDDM). Approximately 60% of patients with SMS have high titers of autoantibodies against the enzyme glutamic acid decarboxylase. Similar to SMS, the majority of patients with IDDM have autoantibodies against glutamic acid decarboxylase at or before diabetes onset, although usually at a lower titer and with a different reaction pattern than patients with SMS. To investigate the immunogenetic basis of SMS, we HLA-typed 18 patients with the disease. Seventy-two percent carried the DQB1*0201 allele (13 of 18, P = 0.02 vs. 18 of 48 controls), indicating that SMS is associated with this allele. DQB1*0201 is also a susceptibility allele for IDDM and other autoimmune diseases. Patients with SMS carried the IDDM-protective DQB1*0602 allele and other sequence-related DQB1*06 alleles with the same frequency observed in controls. In contrast, these alleles are rarely found in IDDM. Five of 8 (62.5%) SMS patients lacking a DQB1*06 allele were diabetic in contrast to only 2 of 10 (20%) with a DQB1*06 allele (P = 0.08), suggesting that the presence of DQB1*0602 or other DQB1*06 alleles may be associated with a reduced prevalence of diabetes among patients with SMS.

Adult↗
PubMed1993

Production and release of tumor necrosis factor alfa, interleukin-1B and interleukin-6 by human mononuclear leukocytes stimulated with pertussis toxin.

Pertussis toxin (PT) has been previously shown to affect a wide variety of immune responses and to cause lymphocyte proliferation. In this study, we examined the effect of PT on cultured human peripheral blood lymphocytes and monocytes with the regard to the capability of this toxin to stimulate the production and release of various cytokines. PT was found to induce the production and release of Tumor Necrosis Factor alfa (TNF-alfa) and Interleukin-6 (IL-6) by both human lymphocytes and monocytes and IL-1 (IL-1B) beta by human monocytes in culture. Most activities of PT in vitro were achieved at the optimal concentration range of 1-0.01 microgram/ml, which is responsible for the adjuvant effect of PT in vivo. Since TNF-alfa, IL-1 beta and IL-6 are potent mediators of inflammation, the production and release of these cytokines by PT and Bordetella pertussis itself may play an important role in antibacterial defenses against such infection.

Cells, Cultured↗
PubMed1992

An AIDS model with distributed incubation and variable infectiousness: applications to i.v. drug users in Latium, Italy.

An AIDS model with distributed incubation and variable infectiousness is considered and simulated via a second-order numerical method. The method is applied to the HIV epidemic among IV drug users in the Latium region of Italy, using available data on the length of the incubation period before the onset of AIDS, on the infectivity of infected individuals during that period, and on the demography of drug users. The contact rate is adjusted to match the actual number of AIDS cases. The sensitivity of the model to uncertainties in the parameters is finally investigated, by performing several simulations.

Acquired Immunodeficiency Syndrome↗
PubMed1992

Insulin autoimmunity: the rate limiting factor in pre-type I diabetes.

Type I diabetes is preceded by a series of autoantibodies including recently recognized subtypes of cytoplasmic islet cell antibodies (ICA) which we have termed 'restricted' and 'non-restricted'. Amongst the autoantibodies detected in prediabetics the antibodies to insulin are unique in that their levels correlate with the rate of progression to type I diabetes. The levels of insulin autoantibodies appear to be stably regulated prior to the appearance of ICA and the highest levels are associated with expression of DR4. The above studies have led to the hypothesis that an immune response to insulin is an early and central feature of anti-islet autoimmunity and that such as immune response when associated with loss of tolerance to other islet antigens (e.g. ICA) is pathogenic.

Age Factors↗
PubMed1992

Analysis of T-lymphocyte subsets after phytohemagglutinin stimulation in normal and type 1 diabetic mothers and their infants.

PROBLEM: Our aim was to investigate the immunological status of diabetic pregnancy, which is an overlap of diabetic immunity abnormalities and the immunological modifications normally occurring during pregnancy. METHOD: We studied lymphocyte subpopulations and lymphokine production, after 96 h of phytohemagglutinin (PHA) stimulation, from normal and Type I diabetic pregnant women at delivery time and from the respective cord blood. RESULTS: Peripheral blood mononuclear cells (PBMC) from both normal and Type I diabetic mothers showed an increase in CD8+ and a decrease in CD4+ cells compared to the respective cord blood mononuclear cells (CBMC). Moreover, Type I PBMC showed a lower number of "activated" CD3+ DR+ cells and a higher number of CD8+ CD25+ cells with respect to normal women, which may reflect the dysregulatory pattern due to the autoimmune condition. Type I CBMC showed a big increase in the number of CD4+ Leu8+ cells, a cell subpopulation characterized by inhibitory activity. Finally, as regards lymphokine release in culture supernatants, type I diabetes seemed to be associated with an over-production of IL1 and IL6, although the latter increase is less evident in CBMC cultures. CONCLUSIONS: The present study shows that diabetic pregnancy is associated with major alterations of cell-mediated immunity leading to a state of immunodepression. Moreover, our study suggests that the maternal immunological status influences fetal immunity, as demonstrated by the increase in the number of regulatory cells and by the altered pattern of lymphokine production (IL1 and IL6) by lymphocytes derived from diabetic CBMC. The latter phenomenon perfectly mirrors maternal PBMC characteristics.

Adult↗
PubMed1992

Prognostically significant heterogeneity of cytoplasmic islet cell antibodies in relatives of patients with type I diabetes.

A significant proportion of relatives of patients with insulin-dependent (type I) diabetes with high titers of cytoplasmic islet cell autoantibodies (ICAs) do not progress to overt diabetes with up to 8 yr of follow-up. This may reflect that follow-up of such relatives has not been long enough to observe diabetes, that despite expression of identical ICAs, some relatives will not progress to diabetes; or that there is heterogeneity in what is identified as ICA. We identified a subset of ICA that was restricted in its species (not reacting with mouse islets) and cell-type reactivity within islets (beta-cell specific). Only one of eight relatives whose sera had the restricted pattern of reactivity progressed to overt diabetes, and on sequential evaluation, all but the one relative who progressed to diabetes have maintained normal first-phase insulin secretion to intravenous glucose. In contrast, by life-table analysis, 70% of relatives expressing nonrestricted ICA became diabetic within 5 yr of follow-up (1 of 8 vs. 16 of 25 diabetic at last follow-up, P less than 0.02). Moreover, preliminary data suggest a significant association of the human leukocyte antigen DQB1*0602 allele of DR2 haplotypes with the restricted ICA pattern (4 of 5 DQB1*0602 restricted vs. 0 nonrestricted ICA, P = 0.006). We propose that expression of a genetically determined restricted ICA pattern confers a markedly lower risk for progression to diabetes.(ABSTRACT TRUNCATED AT 250 WORDS)

Adolescent↗
PubMed1992

No independent association between HSP70 gene polymorphism and IDDM.

A role for heat shock proteins (HSPs) in autoimmunity has recently been suggested by several authors. Autoantibodies against HSPs have been associated with such autoimmune diseases as systemic lupus erythematosus, polymyositis, and the NOD mouse model of diabetes. Moreover, genes for the major 70,000-M(r) HSP (HSP70) are located within the MHC. To investigate a potential association of an HSP70-2 gene polymorphism with insulin-dependent diabetes mellitus (IDDM), we analyzed restriction-fragment-length polymorphism (RFLP) of this gene in 29 families with one or more member affected by IDDM. With the enzyme PstI, as reported previously, two HSP70-2 alleles of 8.5- and 9.0-kb were found. The 8.5-kb allele was found more frequently on diabetic haplotypes compared with control haplotypes (41 of 66 [62%] vs. 20 of 46 [43%], P = 0.03). This association was due to the conservation of alleles on extended haplotypes we previously reported to be associated with diabetes on initial analysis of families. Twenty-three of 26 diabetic DR3 haplotypes and 3 of 3 normal DR3 haplotypes and all instances of [HLA-B8, SC01, DR3] and [HLA-B18, F1C30, DR3] had the 8.5-kb allele, whereas 0 of 9 normal DR2 haplotypes and 0 of 2 diabetic DR2 haplotypes had the 8.5-kb allele (P = 8 x 10(-7) DR3 vs. DR2 haplotypes). The alleles were equally distributed among DR4 haplotypes.(ABSTRACT TRUNCATED AT 250 WORDS)

Alleles↗
PubMed1992

[Emergent infections].

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Acquired Immunodeficiency Syndrome↗
PubMed1991

Contact matrices for multipopulation epidemic models: how to build a consistent matrix close to data.

In models of the dynamics of sexually transmitted diseases between and within N interacting populations, it is necessary to specify the matrix of contacts between populations. Mixing matrices have to satisfy a consistency condition that generally will not be satisfied by empirically obtained matrices. The problem of inferring a mixing matrix from data is phrased here as the problem of finding a matrix in a prescribed set that minimizes an opportune distance from the matrix of data. Two different distances that attempt to measure relative errors are suggested. When no constraints are posed on the activity rates of the populations, the author shows that the minimum distance from data is attained at Knox's (1986) matrix. When activity rates are to be preserved, the minimum cannot be found explicitly for N greater than 2. An algorithm proposed by Arcà, Perucci, Spadea, and Rossi (1990) is then investigated, and shown always to converge to a consistent matrix. Through several examples, it is shown that this limiting matrix does not minimize distance from data, but is generally close to the minimum. Finally, the author simulated the collection of data with sampling errors and possible bias and evaluated the performance of this algorithm in approximating the 'true' contact matrix starting from the simulated 'data' matrix.

Algorithms↗