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Biomedical subjects

N Bizzaro

Publications and source records attributed to N Bizzaro.

At least 19 recordsLinked to original sources

Familial association of autoimmune thrombocytopenia and hyperthyroidism.

An association between thrombocytopenia and thyrotoxicosis in a single individual is well documented, and the theories for this event include a common immunologic cause or a thyrotoxic-induced decrease in platelet survival. We report the first description of the coexistence of autoimmune thrombocytopenic purpura (AITP) and Graves' disease in several members of the same family, in which four females were thrombocytopenic and two of these were also hyperthyroid. All four patients had high titers of antiplatelet antibodies, and the two hyperthyroid cases were positive for thyroid-stimulating immunoglobulins (TSI). The familial occurrence of two autoimmune disorders is very uncommon, and suggests a genetic etiology. The HLA phenotype was determined and the antigens B8 and DR3, which are reported with high frequency in both diseases, were present in three patients. Although the etiologic cause is still unknown, our findings further support the theory that a genetic predisposition underlies autoimmune disease.

Adult

Eosinophilic peroxidase deficiency. Cytochemical and ultrastructural characterization of 21 new cases.

Morphologic, instrumental (flow cytometric), cytochemical, ultrastructural, and chromosomal studies were performed in 21 cases of eosinophilic peroxidase deficiency that were observed in an area of northeastern Italy in the last 5 years. It was found that eosinophilic peroxidase deficiency occurred with a frequency of 1 case in 14,000 complete blood counts yearly, and thus is less rare than previously thought. Eosinophils appeared morphologically normal when examined using the light microscope, but ultrastructural study disclosed several aspecific granule alterations. In the first family studied, members with partial and total deficit were identified; in all the other cases, the enzyme deficit was total (negative cytochemical reactions and absence of dimethylaminoazobenzene-positive specific granules at the electron microscope), isolated (a single affected member in each family examined), and stable (persistent at long-term follow-up). Eosinophilic peroxidase deficiency was not correlatable with any particular disease, although a nonsignificant association with allergic-type conditions was observed. Studies are in progress to examine the modality of the defect's genetic transmission, as well as problems related to possible functional alterations and correlated clinical consequences.

Child, Preschool

A localized pleuropulmonary lesion induced by long-term therapy with amiodarone.

Pulmonary toxicity is an important adverse effect of amiodarone therapy that usually manifests as an acute or chronic diffuse lung disease; in rare cases localized lesions have also been described. We observed a solitary mass localized in the left lung base and involving the adjacent pleura in a 69-year-old man who had been treated for 1 year with amiodarone (cumulative dose 52 g). Cytological and histological examination showed that the lesion consisted of fibrotic tissue and a massive macrophagic infiltration. Following suspension of amiodarone and surgical excision, there was a complete recovery and the mass did not relapse. We confirm that respiratory complaints can occur in patients treated by long-term amiodarone therapy and that lung involvement can manifest with a solitary localized (fibrotic) lesion.

Aged

Serum alanine aminotransferase levels among volunteer blood donors: effect of sex, alcohol intake and obesity.

Serum alanine aminotransferase (ALT) activity and antibody to hepatitis B core antigen (anti-HBc) were proposed as surrogate markers of non-A, non-B (NANB) infection. In this study we analyzed 649 consecutive repeat blood donors to define the possible exclusion rate if both surrogate markers were implemented in our Blood Service, and to assess risk factors associated with elevated ALT levels. One hundred and seven blood donors (16.5%) had slightly elevated ALT levels (higher than the upper reference value, but less than twice this level), but only 15 (2.3%) had a level higher than mean log + 2.25 SD. Seventy-seven (11.8%) resulted anti-HBc positive. Blood donors with elevated ALT levels and those who were anti-HBc positive belonged to different populations, being only 6 (0.9%) positive for both surrogate markers. Only two known donors (0.3%) resulted anti-HCV positive, and each of them was implicated in one of the four post-transfusion hepatitis (PTH) cases observed in 200 recipients of blood from these 649 donors. Both were negative for anti-HBc but one had elevated ALT levels. Male sex, age, alcohol use and obesity resulted all independently and significantly associated with elevated ALT levels. For both alcohol use and body weight we observed a significant linear relationship with serum ALT levels. These findings suggest that in our Region the exclusion of blood donors with ALT levels above the reference value, or those anti-HBc positive, would exclude an unacceptably high rate of blood donors without proven evidence of post-transfusion hepatitis prevention.(ABSTRACT TRUNCATED AT 250 WORDS)

Adult

[The monitoring of plasma digoxin levels during acute digitalis poisoning treated with Fab anti-digoxin fragments].

Life-threatening digitalis intoxication is treated using digoxin specific antibody fragments (Fab) that bind and inactivate the drug. The free digoxin serum concentration could be useful in the management of Fab-treated patients, but the standard methods of measurement can be clinically misleading because Fab anti-digoxin interferes with digitalis immunoassay measurements. A case involving Fab therapy of a digoxin overdosed patient, in which two laboratory methods gave very different results, is reported. The radioimmunologic assay (RIA), widely used in laboratories, yielded high values without relation to true serum free digoxin concentration. On the contrary, the recently introduced fluoroenzymatic sequential immunoassay (FEIA), which accurately measures free glycoside concentration, was a valuable aid in monitoring Fab treatment. Therefore, cardiologists' knowledge of a possible interference of specific anti-digoxin fragment treatment with many immunoassays may greatly enhance the rational management of these patients.

Acute Disease

Antibody to hepatitis C virus and liver disease in volunteer blood donors.

OBJECTIVE: To evaluate the specificity of antibodies to hepatitis C virus (anti-HCV) and their relation to liver disease in blood donors. DESIGN: Case series of consecutive blood donors found positive for anti-HCV by enzyme-linked immunosorbent assay (ELISA). Patients were evaluated for antibody specificity using a recombinant immunoblotting assay (RIBA) and were evaluated for biochemical evidence of liver disease. Patients showing increased alanine aminotransferase (ALT) levels had a liver biopsy. SETTING: University hospital. PARTICIPANTS: Fifty consecutive blood donors found to be anti-HCV positive on both an initial and repeat ELISA. Inclusion criteria were as follows: an absence of hepatitis B surface antigens and non-organ-specific autoantibodies; a daily alcohol intake of less than 50 g; no history of recent hepatotoxic drug use; and normal serum levels of alpha 1 antitrypsin, ceruloplasmin, and copper. MAIN RESULTS: Anti-HCV positivity was confirmed by RIBA in only 13 of 50 donors (26%) who had positive ELISA results. These 13 donors had an elevated ALT level and histologic evidence of chronic hepatitis, which was active in 8 patients (62%) and had already produced cirrhosis in 2 patients (15%). In contrast, the 17 donors with an intermediate RIBA pattern had only mild and often nonspecific histologic liver abnormalities. The 20 patients with a negative RIBA result had normal ALT levels. CONCLUSION: In blood donors, the anti-HCV RIBA is not only more specific than the anti-HCV ELISA, but is also useful in identifying patients who have an underlying chronic liver disease.

Biopsy

Platelet satellitosis to polymorphonuclears: cytochemical, immunological, and ultrastructural characterization of eight cases.

Satellitosis of platelets to polymorphonuclears was observed in eight patients. This phenomenon occurred only in blood anticoagulated by EDTA at room temperature. In vivo and in vitro platelet and neutrophil function were normal. Electron microscopy studies showed normal structures in both cells but demonstrated platelet phagocytosis by neutrophils. In all cases we were able to transfer the platelet satellitosis factor by mixing platelet plasma (or serum) with whole blood from ABO compatible healthy controls; conversely, when the same plasma (or serum) was pre-incubated with anti-IgG serum, satellitosis to normal blood was not observed. While this finding suggests that a plasmatic protein with the properties of an IgG immunoglobulin was probably responsible for the phenomenon, we were unable to correlate it with the clinical condition of the patient, functional abnormalities of the blood components, or drugs.

Adult

Lymphocytic clusters in peripheral blood: an atypical morphologic pattern of chronic lymphocytic leukemia.

A case of chronic lymphocytic leukemia is described in which peripheral blood and bone marrow films showed lymphocytes arranged in aggregates resembling epithelial cell clusters. Due to this morphological conformation, automatic hemogram screening was not able to detect the presence of chronic lymphocytic leukemia. Correct interpretation of a typical histogram pattern led to the final diagnosis.

Aged

Platelet membrane abnormalities in myeloproliferative disorders: decrease in glycoproteins Ib and IIb/IIIa complex is associated with deficient receptor function.

The number and functional activity of membrane glycoproteins (GP) Ib and IIb/IIIa were investigated in platelets from 11 patients with myeloproliferative disorders (MPD). Three patients had essential thrombocythaemia, two had chronic myeloid leukaemia and six had polycythaemia vera. The numbers of GPIb and GPIIb/IIIa molecules were detected on the platelet surface using different 125I-labelled monoclonal antibodies. The functional properties of GPIb and GPIIb/IIIa were evaluated using purified 125I-labelled asialo von Willebrand factor (vWF) and purified 125I-labelled fibrinogen, respectively, in a binding assay. Binding of the anti-GPIIb/IIIa antibody was decreased by 40% in almost all patients studied and, when measured, it was accompanied by decreased fibrinogen binding to activated platelets. Binding of anti-GPIb antibodies to platelets was also slightly decreased or virtually the same in eight out of 11 patients. The decrease correlated with decreased binding of asialo vWF. The increased plasma glycocalicin levels, measured in four patients, depended on the high platelet count. Scatchard analysis revealed normal receptor binding affinity for all ligands tested in all but one patient. In this report we demonstrate that abnormalities in the concentrations of GPIIb/IIIa membrane proteins are commonly present in patients with MPD, while a decrease in GPIb concentration is also seen, although in fewer patients. These abnormalities are accompanied by a concurrent decrease in the respective receptor functions. These findings may explain part of the haemorrhagic tendency often encountered in MPD.

Antibodies, Monoclonal

[Study of variations in hematologic parameters in rugby players undergoing physical training at a high altitude].

Thirty-three well-trained rugby players, ranging in age from 18 to 30 years, were studied during basal training for one year. Peripheral blood parameters and iron metabolism indices were investigated before, during and at the end of the season. The hematologic status showed no substantial changes with respect to physical activity even if considered by age and team-role. However, a significant reduction (P less than 0.001) in RBC count, hemoglobin, hematocrit, serum iron, plasma transferrin and ferritin, was observed when compared with those obtained from a group of healthy untrained controls. Since the decrease in serum iron and ferritin concentrations was significant so as to justify a similar reduction in Hb and Ht values, two pathogenic mechanisms must be considered: e.g., a moderate hemodilution secondary to plasma expansion combined with a decrease in iron stores caused by chronic iron loss through feces, profound sweat and urine. The present study demonstrates that mild anemia (sports anemia) may develop in well-trained rugby players with heavy physical work load, due to increased plasma volume with a relative thinning of RBCs. This pseudo-anemic condition is associated with a reduction in iron stores which can lead to a true iron-deficiency anemia. A yearly blood test and, if necessary, iron supplementation could prevent this condition.

Adolescent

Neonatal alloimmune amegakaryocytosis. Case report.

A case of neonatal alloimmune thrombocytopenia with amegakaryocytosis is described. The baby was treated by double-volume exchange transfusion with only a temporary benefit; 2 weeks of steroid treatment were unsuccessful but the platelet count did increase transiently after infusion of random donor platelets. The newborn recovered after intravenous immunoglobulin, with restoration of the megakaryocyte thrombocytopoiesis and platelet number. The rare antigen Koa on the paternal platelets and maternal immunization against it were detected.

Blood Platelets

Acquired myeloperoxidase deficiency of neutrophils in a patient with aplastic anemia (idiopathic marrow aplasia).

A case of aplastic anemia is described, in which bacterial and fungal infections were coincidental with a sudden development of an almost complete myeloperoxidase deficiency of neutrophils. The discrepancy on the differential white cell count between the logic and oscilloscopic finding of the autoanalyzer (Technicon H6000) and the results of the microscopic examination of the slides allowed a correct diagnosis of the enzymatic anomaly.

Anemia, Aplastic

[Adenomatoid tumor of the epididymis: cytologic diagnosis by fine-needle aspiration (FNA)].

Adenomatoid tumor of the epididymis diagnosed using fine needle aspiration (FNA). The adenomatoid tumor of the male genital system is a relatively uncommon, well recognized neoplasm with benign histologic appearance, and mostly asymptomatic clinical features. We describe a case of adenomatoid tumor of the epididymis diagnosed before surgery by fine needle aspiration cytology (FNA). This diagnostic procedure has allowed a rapid, reliable, and conclusive surgical approach.

Aged

Familial occurrence of multiple myeloma and monoclonal gammopathy of undetermined significance in 5 siblings.

The etiology of monoclonal gammopathies remains unclear but familial occurrence of immunopathies seems to favor a possible hereditary background. In support of this view we report on a family in which five siblings had a monoclonal gammopathy. When MGUS was diagnosed in two of them, a family study was carried out: one sister died from multiple myeloma and four out of the seven living siblings were discovered to have a MGUS. The immunogenetic study (HLA) showed no direct correlation between haplotypes and the presence of the monoclonal protein. Nevertheless possible environmental exposure to viruses, chemicals and radiation was apparently excluded. This new report on familial involvement, the second ever reported for number of affected subjects, strongly supports the theory of genetic predisposition in the development of plasma cell dyscrasias.

Aged