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Biomedical subjects

A Girolami

Publications and source records attributed to A Girolami.

At least 289 records · Page 16Linked to original sources
PubMed1992

Intra-cardial thrombosis with systemic and pulmonary embolism as main symptoms in a patient with protein S deficiency.

This report describes the unusual occurrence of both left and right atrial thrombosis with peripheral arterial and pulmonary embolism, respectively, as presenting symptoms of congenital protein S deficiency in a 31-year-old man. The coagulation study performed in the coumarin-treated propositus indicated a heterozygous protein S state. The finding of reduced free protein S antigen and protein S activity levels with normal total protein S and C4B-bp levels in five other family members (father, sister, and three relatives on the paternal side) confirmed the inherited nature of the defect. Since there is an increased frequency of arterial thrombosis in patients suffering from protein S deficiency, any case of idiopathic intra-cardial thrombosis requires careful haemostatic screening. In addition, the possibility of intra-cardial thrombosis should be considered in any thromboembolic event seen in inherited protein S deficiency.

Adult↗
PubMed1992

Indobufen versus dipyridamole plus aspirin in the treatment of patients with peripheral atherosclerotic disease.

Twenty-seven patients with peripheral atherosclerotic disease were randomized into two therapy regimens consisting of indobufen (Indo) (400 mg/day) and dipyridamole (Dip) (225 mg/day) plus acetylsalicylic acid (ASA) (1 g/day), respectively. Maximal walking distance (MWD) and ankle-arm systolic pressure ratios were measured before and after three and six months of therapy; bleeding time, beta-thromboglobulin (beta-TG), platelet factor 4 (PF4) and serum thromboxane B2 (TXB2) were also assessed. The two treatment groups showed a significant and progressive increase in pain-free walking distance at both three and six months of therapy, but patients taking indobufen showed a greater improvement. On the contrary, the pressure doppler ratio at rest was statistically improved only in the ASA plus Dip group. Basal beta-TG and PF4 levels were normal and no changes occurred during the study in either group, while in all patients bleeding times showed a significant increase above basal values and serum TBX2 decreased.

Aged↗
PubMed1992

Occurrence of arterial thrombosis in a cohort of patients with hereditary deficiency of clotting inhibitors.

Hereditary deficiency of protein C, protein S or antithrombin III has been associated with an increased incidence of venous thrombosis or pulmonary embolism. The relationship between these deficiencies and the development of arterial thrombosis is a matter of current investigation. We retrospectively studied the occurrence of arterial thrombosis in 92 symptomatic patients belonging to a group of 160 with a confirmed diagnosis of hereditary deficiency of one of the physiologic clotting inhibitors. Seventeen of them experienced at least one arterial thrombotic event. This indicates that about one out of five of the symptomatic patients had experienced arterial thrombosis. The control group consisted of 92 sex and age matched (+/- 5 years) patients with no clotting deficiency who had experienced in the same period at least one episode of deep vein thrombosis or pulmonary embolism. Only one of them had developed arterial thrombosis. Ischemic stroke, myocardial infarction, upper and lower limb arterial thrombosis, and mesenteric artery occlusion occurred regardless of the type of defect taken into account; mean age of about 37.05 +/- 23 years (mean +/- SD). In some cases, arterial thrombosis was fatal. The overall number of venous thrombotic events in the 92 symptomatic patients of this study was much higher than that of arterial thrombosis, with a ratio of 24 to 1. The use of long-term anticoagulant therapy in our group of patients seemed to be able to prevent recurrences of both arterial and venous thrombosis.

Adolescent↗
PubMed1991

Molecular defect in coagulation factor XFriuli results from a substitution of serine for proline at position 343.

Our previous findings suggested that coagulation factor XFriuli could be functionally defective owing to a point mutation in the portion of the factor X gene coding for the fully activated heavy chain. To verify the existence of this postulated change, we analyzed all eight exons of the normal and Friuli factor X gene. Each exon was amplified from genomic DNA using the polymerase chain reaction and cloned into the plasmid pUC19. The amplified DNA inserts were subjected to direct sequencing by the dideoxy chain termination method with forward and reverse oligonucleotide sequencing primers. A point mutation (C to T transition at nucleotide position 19,297) that results in coding for serine (TCC) in place of proline (CCC) at amino acid position 343 was found. This substitution involves a highly conserved proline residue oriented spatially close to both the cleavage site of the zymogen and the active site of the enzyme and explains the previous observations of discrete biochemical and functional differences between factor XFriuli and normal factor X. The mutation abolished an HgiCI restriction site present in the normal factor X gene, and this change constitutes the basis for a convenient method for screening individuals carrying this molecular defect. Proline343 is in conserved region 5 of the serine protease superfamily to which factor X belongs and is part of a 14-residue L*****P******C motif that occurs in at least 16 other enzymes. Computer analysis suggests that the motif may be an essential aspect of conformational features important to functional properties of factor X as well as other serine proteases.

Amino Acid Sequence↗
PubMed1991

Hepatocellular carcinoma in hemophilia.

A questionnaire-based survey involving 11,801 hemophiliacs from 54 hemophilia centers in the USA and Europe documented the occurrence of hepatocellular carcinoma (HCC) in 10 patients. The crude rate of HCC was 3.2/100,000 patients/year, at least 30 times higher than the background incidence of this tumor in the countries of origin of the patients. All patients were Caucasians with hemophilia A, 39 to 74 years of age, and had liver cirrhosis. All had one or more risk factor for cirrhosis and HCC: 5 were positive for serum hepatitis B surface antigen, 4 had the antibody to hepatitis C virus, and 4 had histories of alcohol abuse. Serum alpha-fetoprotein, measured in 6 patients, was significantly elevated in 4 (range: 807-1399 ng/ml), and only moderately elevated in 2 (25 and 171 ng/ml). The onset of HCC was asymptomatic in 5 patients, whereas it was accompanied by jaundice, abdominal pain, or ascites in the remaining patients. Thus, HCC seems to be a more important secondary disease for hemophiliacs than formerly recognized. Since HCC is often asymptomatic, screening hemophiliacs with chronic liver disease with periodic ultrasound scans might increase the changes of detecting HCC at a stage amenable to surgical treatment.

Adult↗
PubMed1991

Effect of human recombinant erythropoietin on bleeding time, platelet number and function in children with end-stage renal disease maintained by haemodialysis.

We studied platelet number and function in nine anaemic children with end-stage renal disease during a clinical trial with recombinant human erythropoietin (rHu-EPO). All the children showed a correction in both haematocrit and haemoglobin levels which was followed by a significant reduction in bleeding time. We also observed a significant increase in platelet count after both 6 and 12 weeks of therapy; at the same time mean platelet volume decreased and a normal platelet mass was maintained. The mean baseline platelet aggregation response to ADP was normal, but was decreased to collagen (P less than 0.05 vs normal control). Platelet production of thromboxane B2 in serum was also lower than normal controls. After correction of anaemia with rHu-EPO, platelet aggregation improved in patients with a decreased baseline response, and mean levels of thromboxane B2 became normal. In conclusion, the treatment with rHu-EPO improved haemostatic balance not only by correcting anaemia, but also by increasing platelet count and function.

Adolescent↗
PubMed1991

Pregnancy-induced worsening of thrombocytopenia in a patient with type IIB von Willebrand's disease.

Thrombocytopenia has been reported in patients with type IIB von Willebrand's disease (vWd) during pregnancy. In the present work we report the behaviour of platelet count and von Willebrand factor (vWf) multimers in a pregnant type IIB vWd patient who presented with mild thrombocytopenia in the steady state. The evolution of pregnancy was associated with a progressive decrease of platelet count which showed its lowest value two days before delivery (20 x 10(9)/l). The tendency of the platelet count to decrease was suddenly reversed a few days later (77 x 10(9)/l). At the same time, the vWf multimeric pattern showed a strict but inverse correlation with the platelet count. In fact, a progressive increase in low and intermediate sized vWf multimers, which proceeded until platelets reached their minimum level, was noted. A few days after delivery, concomitant with the prompt platelet increase, low and intermediate multimers became decreased. During pregnancy, the patient's platelet showed additional increased responsiveness to ristocetin but did not demonstrate spontaneous platelet aggregation (SPA). On the contrary, the patient's plasma, collected both during and after pregnancy, caused normal platelets to aggregate spontaneously. SPA appeared completely blocked by an anti-GPIIb-IIIa monoclonal antibody (MAb), which recognized the binding site for fibrinogen, vWf and fibronectin. In contrast, a MAb against ristocetin-induced vWf binding site on GPIb did not affect SPA. These findings suggest that the common stimulus or stimuli, responsible for the pregnancy-induced decrease of platelet count and improvement of vWf multimeric pattern in type IIB vWd is strictly related to pregnancy.(ABSTRACT TRUNCATED AT 250 WORDS)

Adult↗
PubMed1991

Use of a radioimmunoassay for 5-hydroxytryptamine (5-HT) in thrombocytosis.

A decrease in intra-platelet 5-hydroxytryptamine (5-HT) may be a possible marker for primary thrombocytosis and there are several different methods for the measurement of platelet 5-HT content (e.g. fluorimetry, high-performance liquid chromatography and radioimmunoassay). The present study has shown that, in laboratories with radioprotected areas, radioimmunoassay of 5-HT is a simple method which correlates well with a standard fluorimetric technique and yields satisfactory results in patients with thrombocytosis.

Adult↗
PubMed1991

Venous thrombosis and tissue plasminogen activator release deficiency: a family study.

Thrombotic events are often due to fibrinolytic defects such as impaired tissue plasminogen activator (tPA) synthesis and/or release or increased plasminogen activator inhibitor (PAI) levels. In this report we describe four members of a family with a history of recurrent venous thrombosis, who demonstrated defective tPA release after dynamic tests. Two symptomatic patients and one asymptomatic individual showed absent or abnormally low tPA antigen (tPA:Ag) and activity (PA) increases after DDAVP infusion and/or 20 min of venous occlusion. In these patients PAI values were slightly higher than controls. A satisfactory tPA:Ag release was found in the fourth asymptomatic patient. All other coagulation tests were within the normal ranges. This familial defect of the fibrinolytic system seems to be inherited as an autosomal trait.

Adult↗
PubMed1991

Prevalence of HIV infection in a cohort of patients with congenital coagulation defects of the prothrombin complex factors.

Twenty-seven patients suffering from congenital coagulation defects of the prothrombin complex factors were investigated: six had haemophilia B; 14, factor VII defect; four, factor X defect; and three, factor II defect. Nineteen patients (70.3%) had previously received plasma and/or clotting factors concentrates. Among these, markers of hepatitis B infection (HBV) were present in five cases (26.3%) and hepatitis C (HCV) antibodies were found in seven cases (36.8%). The HIV1 prevalence was similarly high. In fact, five patients (26.3%), previously infused with factor IX or prothrombin complex factors concentrates, developed HIV1 infection. No patient with factor VII deficiency became HIV1 positive, despite the administration of unheated factor VII concentrates and the consequent HBV and HCV contamination. In the HIV1 positive group, three patients showed a false positivity for HIV2 antibodies. Five years after seroconversion, three patients developed AIDS (stage IV) and died, one had persistent generalized lymphadenopathy (stage III), and one with post-hepatitis liver cirrhosis was asymptomatic (stage II) for HIV infection. The significant decrease in total white cells, T4 lymphocytes and platelet counts and increase of beta 2-microglobulin and neopterin levels confirmed the prognostic value of these markers for the progression of HIV1 disease. Only one HIV1 negative transfused patient developed anti-HTLV-I p19 antibodies.

Adult↗
PubMed1991

The role of drugs, particularly oral contraceptives, in triggering thrombosis in congenital defects of coagulation inhibitors: a study of six patients.

It is well established that pregnancy and puerperium, surgery and trauma may often trigger thrombotic events even in the normal population. On the other hand, patients with congenital deficiency of clotting inhibitors may develop spontaneous thrombotic episodes, although they become often symptomatic when one of the above-mentioned triggering factors is present. We found this to be true in 40 out of 81 symptomatic patients with congenital defects of coagulation inhibitors. In six (15%) of these cases medications (mainly oral contraceptives) triggered the thrombotic event. The incidence of pharmacological factors as a cause of thrombosis is commonly maintained to be low. This study indicates that this is not so and underlines the potential importance of drugs, particularly oral contraceptives, in the pathogenesis of thrombotic events in patients with congenital defects of clotting inhibitors.

Adult↗
PubMed1991

Hemorheological study in patients with coronary artery disease.

Hemorheological parameters (viscosity of whole blood, plasma viscosity, hematocrit, velocity of red blood cells) were studied in 30 patients with coronary artery disease (15 patients with acute myocardial infarction, 15 patients with chronic angina), 14 subjects at high risk for ischemic heart disease and 14 normal volunteers matched for sex and age. Viscosity of whole blood was high in all coronary disease patients and in high-risk subjects as compared with controls. Velocity of red blood cells was significantly decreased in these patients. On the other hand, plasma viscosity and fibrinogen values were in the normal range in both groups and hematocrit was only slightly elevated in patients with angina. Furthermore, there were no changes in rheological parameters during the period of observation (1 week). We can suppose that the hyperviscosity is due, above all, to the decreased red blood cell deformability both in coronary disease patients but also in high-risk subjects. It is probable that red blood cell damage is present before the acute ischemic event, and that is a preexisting cause and not a consequence of it.

Angina Pectoris↗
PubMed1991

First report of centroblastic lymphoma in a human immunodeficiency virus-positive patient with a rare congenital coagulation disorder (factor X Friuli).

The association of lymphoma and human immunodeficiency virus (HIV) seropositivity in a patient with a rare congenital clotting disorder (Factor X Friuli) is reported. The propositus was a previously asymptomatic HIV-positive 46-year-old man who suddenly presented a rapidly evolving right exophthalmos due to a centroblastic lymphoma, as the presenting symptom of full-blown AIDS. The clinical picture was characterized by unusual site of presentation, advanced stage and fatal course over a short period of time, despite therapy. Bone marrow, but not lymph node or parenchymal involvement, was present. Central nervous system involvement, with an unusual diffuse and massive pattern, and the B-cell origin of the lesion were demonstrated at autopsy. Few reports exist so far about the association of malignancy and HIV in patients with congenital coagulation disorders and this is the first report about a defect other than classic hemophilia.

Acquired Immunodeficiency Syndrome↗
PubMed1991

Heterozygous protein C deficiency associated with multiple congenital hemangiomas--a case report.

Congenital protein C deficiency is described as associated with recurrent thrombotic manifestations. The proband, a fourteen-year-old female, has a history of severe and frequent thrombotic disease, moreover, she presents congenital multiple hemangiomas. Family history was positive for protein C deficiency since the mother of the proposita is also affected and has manifested deep venous thrombophlebitis. Two additional relatives on the maternal side were not available for study but were reported to be symptomatic. None of the family members presented angiomatosis. This case report represents the first description of the association of protein C deficiency with multiple hemangiomas.

Adolescent↗