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Biomedical subjects

A D'Agata

Publications and source records attributed to A D'Agata.

At least 19 recordsLinked to original sources

[Salivary and serum beta 2-microglobulin in the diagnosis of primary Sjögren's syndrome].

beta 2-microglobulin (beta 2m) serum and salivary levels and total protein salivary levels were determined in 15 patients with primary Sjögren's syndrome (pSS), 14 patients with sicca syndrome and 11 healthy subjects. beta 2m serum and salivary levels were higher (p < 0.005) in the patients with pSS than in the healthy subjects and in the patients with sicca syndrome. The bioptic focus scores of minor salivary glands were correlated to beta 2m salivary levels with a high significance (p < 0.001) but were not correlated to beta 2m serum levels. The assessment of beta 2m serum and salivary levels is a non-invasive clinical investigation, which may be easily repeated. It is a very sensitive and highly specific test for the diagnosis of pSS. It may be therefore a useful mean to follow the natural course of pSS and to evaluate the effects of therapy.

Diagnosis, Differential

Unstable translocations: a new case?

A female patient with Down syndrome due to unbalanced Robertsonian translocation (14;21) is reported. A different Robertsonian translocation involving a chromosome no. 14 was observed in her father, who was a carrier of a balanced Robertsonian t(13;14), while the maternal karyotype was normal. Hypotheses about the origin of the translocation in the daughter are discussed.

Chromosomes, Human, Pair 14

[Serum beta 2-microglobulin and HLA alloantigens in primary Gougerot-Sjögren syndrome. A possible relation with HLA-DR3 specificity].

The relationships between some allo-antigens of the HLA system and beta 2-microglobulin (beta 2m) serum level were examined in a group of 24 subjects with primitive Sjögren's syndrome (pSS). While the beta 2m serum level of all the patients with pSS were higher at the limits of significance (p congruent to 0.05), compared to the values of the 14 control subjects, the division of the patients into two sub-groups of 14 and 10 subjects, according to the presence or absence of the haplotypes DR2 and/or DR3, pointed up a beta 2m serum level which was significantly higher in the first compared to the second (p less than 0.02) and to the group of normal subjects (p less than 0.01). Among the individual haplotypes studied, only the DR3 was observed with a significantly greater frequency (p less than 0.01) in the patients compared to the control group. The haplotype DR3 and also the B8, although at a lesser level, were found to be correlated with a high value of the serum beta 2m: p less than 0.004 and p less than 0.05 respectively. A similar association was not found for the DR2 and DRW52 specificities.

Adult

Clearance of hepatitis B virus DNA and pre-S surface antigens in patients with markers of acute viral replication.

To clarify the relationship between the pre-S antigens and other serological markers of hepatitis B virus (HBV) replication, we followed up 27 patients: 21 presented with symptoms of acute hepatitis (two progressed to chronicity) and six suffered from chronic hepatitis. Pre-S1, pre-S2, HBV DNA, IgM antihepatitis core antigen (HBc), hepatitis B e antigen (HBeAg), and anti-HBe were detected in about 200 sera serially collected at different times for at least 6-12 months from the onset of clinical observation. In the early symptomatic phase of acute hepatitis, the pre-S1 and pre-S2 antigens were present in 95% of the cases and correlated well with high levels of alanine-transferase (ALT) and IgM anti-HBc, while HBV DNA was present in the sera of only six (28.6%) patients (P less than 0.0001). This was the first marker to disappear (1 month after the initial stage). All of the HBV DNA-positive patients were also HBeAg positive, whereas no HBeAg-negative subjects were found with serum HBV DNA. In the six chronic patients, pre-S antigens were always present independently of the HBeAg/anti-HBe status; HBV DNA was detected in three of them, even if transiently, and in two of these it reappeared together with pre-S2 epitope. The follow-up data suggest that, in acute hepatitis, the clearance of pre-S antigens can be considered as a prognostic index of clinical resolution and that, in chronic hepatitis, the persistence of pre-S antigens seems to indicate progression of the disease. In particular, pre-S2, in patients in whom it is intermittent, can be considered as an index of reactivation.

Acute Disease

Ichthyosis and neutral lipid storage disease.

A boy with a lipid storage disease characterized by lamellar ichthyosis, cataracts, hepatosplenomegaly, and leukocyte vacuoles has been identified in a Sicilian family. This patient shows all the characteristics of ichthyosis and neutral lipid storage disease (Chanarin-Dorfman syndrome). Family data confirm an autosomal recessive inheritance; the heterozygotes may be detected by the presence of vacuoles in circulating eosinophils.

Genes, Recessive

Serum HBV DNA and intrahepatic hepatitis B core antigen (HBcAg) in chronic hepatitis B virus infection: correlation with infectivity and liver histology.

In this study we investigated the HBeAg/anti HBeAg status, the liver histological features, the intrahepatic localization of HBcAg, and the presence of serum HBV DNA in a group of 79 HBsAg-positive patients. We found a close relationship between the presence of HBV DNA and intrahepatic HBcAg in HBeAg-positive patients. Among the 56 anti-HBeAg-positive patients considered, 13 (23.2%) showed the presence of intrahepatic HBcAg and serum HBV DNA. In this group of patients, active viral replication was associated with a chronic inflammatory liver disease and particularly with CAH. Furthermore, a prevalent cytoplasmic localization of HBcAg was found in 66.6% of patients affected by CAH, showing that this peculiar distribution of HBcAg seems to be associated with a poor prognosis.

Adult

Is determination of serum N-terminal procollagen type III peptide (sPIIIP) a marker of hepatic fibrosis?

Serum N-terminal procollagen type III peptide (sPIIIP) levels were evaluated in 58 patients affected by chronic liver disease, in order to assess the usefulness of sPIIIP as a marker of hepatic fibrosis. In 45 patients sPIIIP was also correlated to liver histology; biopsies were scored by two of the authors, without knowledge of diagnosis. Compared to normal controls, sPIIIP concentration was found to be significantly elevated in chronic active hepatitis (CAH) and in cirrhosis, but not in fatty liver. Patients affected by chronic persistent hepatitis (CPH) had values of sPIIIP higher than normal in four of 11 cases considered. A close correlation was found between sPIIIP values and histological parameters of inflammation, necrosis, and degeneration, while the relationship between sPIIIP levels and fibrosis was weaker. These data suggest that sPIIIP determination may reflect the extent of inflammatory changes in the liver; but it cannot be considered a reliable index of hepatic fibrosis.

Adult

Diagnostic significance of anti-HBc IgM (RIA) in healthy HBsAg carriers and in chronic hepatitis B.

The diagnostic significance of IgM antibody against hepatitis B core antigen (anti-HBc) in healthy hepatitis B surface antigen (HBsAg) carriers and in subjects affected by chronic hepatitis B was evaluated. IgM anti-HBc was sought and found in all nine patients examined who were affected by acute HBsAg-positive hepatitis. It was also detected in 2 out of 18 patients with HBsAg-positive chronic persistent hepatitis and in 12 out of 42 patients affected by HBsAg-positive chronic active hepatitis. The absence of this marker was noted in all 26 HBsAg healthy carriers and in the subjects with HBsAg-positive cirrhosis. No relationship was found between the presence of IgM anti-HBc and the degree of inflammatory activity in the patients with HBsAg-positive chronic active hepatitis. A correlation was not found between the presence of IgM anti-HBc and the presence of hepatitis B e antigen (HBeAg) in the same patients. These data show that the absence of IgM anti-HBc may be useful in identifying healthy carriers of HBsAg. The presence of this antibody may be a suitable indication of acute HBsAg-positive hepatitis. In patients with chronic active hepatitis B the presence of IgM anti-HBc cannot be used as diagnostic tool in predicting the severity of liver disease.

Antibody Specificity

Alpha thalassaemia in Sicily: haematological and biosynthetic studies.

Eight Sicilian patients with Hb H disease and their families have been studied. The standard haematological tests and the alpha/beta chain synthesis ratios showed significantly different results in the patients with Hb H disease as compared with alpha thalassaemia carriers, except for Hb A2 values. There was no significant difference in the mean RBC, MCV, Hb A2, Hb A1 and Hb F of alpha thalassaemia carriers compared with normal controls. On the contrary significant difference was found between the mean alpha/beta chain synthesis ratio of alpha thalassaemia carriers and that of the normal controls; however, the extensive overlapping of alpha/beta values between these two conditions make this parameter insufficiently discriminant. No correlation was found between MCV, MCH, RBC and alpha/beta chain synthesis ratio in patients with alpha thalassaemia trait, suggesting that the ratio cannot be used to distinguish between carriers of a mild gene ('silent' carrier) and carriers of the more severe alpha thalassaemia gene. A possible genetic model for alpha thalassaemia in Sicily is presented.

Adolescent

Leukokinetic studies in Mediterranean kala azar.

Two patients with acute Kala Azar were studied with DF32P (diisopropylfluorophosphate) and three patients with 51Cr (chromate) in an attempt to delineate the mechanism producing neutropenia in this disease. The granulocyte life span was found to be reduced in all the patients with exception of one who was studied during Glucantim treatment. The surface radioactivity counts showed that the reduced granulocyte life span was due to pooling and probable destruction of granulocytes in the spleen and to a lesser degree in the liver. Bone marrow neutrophil reserve, evaluated by the response to the intravenous hydrocortisone hemisuccinate, was found to be markedly reduced in all patients. An enlarged marginal granulocyte pool indicated also that the neutropenia may be due to altered intravascular granulocyte distribution.

Agranulocytosis

Studies of the neutropenia in kala-azar: results in two patients.

Two patients with kala-azar were studied, one with DF32P (diisopropylfluorophosphate) and one with 51CR (chromate), in an attempt to elucidate the mechanisms producing neutropenia in this disease. The granulocyte half-life was found to be reduced in both patients, with pooling and probable destruction occurring in the spleen and, to a lesser extent, in the liver. Bone marrow neutrophil reserve, estimated by the response to intravenous hydrocortisone hemisuccinate, was found to be markedly reduced in both patients. An enlarged marginal granulocyte pool in one patient indicated that the neutropenia may also be due to altered intravascular granulocyte distribution.

Agranulocytosis

Platelet and fibrinogen survival with 75Se selenomethionine in acute infectious hepatitis.

Simultaneous platelet and fibrinogen survival with 75Se selenomethionine was determined in eight patients with acute infectious hepatitis of intermediate severity. Fibrinogen survival alone was estimated in another nine patients, seven of whom were receiving heparin treatment. Platelet survival was found to be normal (7-9 days) in seven of the 8 patients; it was reduced 4,6 days) only in one patient, who was also affected by measles. Fibrinogen survival was markedly reduced (1-3.7 days) and fibrinogen turnover sharply increased (0.59-2.80 mg/ml/day) in all but one patient, who had thalassaemia major, with normal fibrinogen survival and fibrinogen turnover. Heparin treatment did not affect either platelet survival or fibrinogen turnover. In all patients the coagulation defect was mild and no sign of disseminated intravascular coagulation or of increased fibrinolytic activity could be demonstrated by routine tests. These results are consistent with the hypothesis that in acute infectious hepatitis the decreased survival and increased turnover of fibrinogen might be due to a pathological pathway of defibrination in dependent of thrombin of plasmin.

Afibrinogenemia