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Biomedical subjects

F Rodeghiero

Publications and source records attributed to F Rodeghiero.

At least 199 records · Page 11Linked to original sources
PubMed1980

Fibrin cross-linking in congenital factor XIII deficiency.

Homozygous patients with factor XIII deficiency are devoid of immunologically identifiable A protein, the active enzymatic component. Quantitative studies of transamidase activity of the factor are available in only a few cases, and the fibrin cross-linking pattern is not well known. The present paper deals with the quantitative estimation of factor XIII transamidase activity (dansylcadaverine system), factor XIII molecular subunits, and the corresponding fibrin cross-linking pattern in seven homozygous patients with factor XIII deficiency. The results indicate that transamidase activity was present in all patients, and the range was 0.5-1.7%. The pattern of fibrin stabiisation showed an absence of cross-linking in two patients, the presence of gamma-gamma-dimers (traces) in four, and gamma-gamma-dimers plus incomplete alpha-polymers (traces) in one patient. In conclusion, the homozygous patients reported here were not completely devoid of functioning factor XIII.

Electrophoresis, Polyacrylamide Gel↗
PubMed1978

Subunits A and S inheritance in four families with congenital factor XIII deficiency.

Previous studies of the inheritance of the two molecular subunits of fibrin stablizing factor (factor XIII) refer to isolated cases. The present work investigates the hereditary mode of transmission of subunits A and S, measured by the Laurell technique, in seven homozygotes and in 29 heterozygotes belonging to four families with factor XIII deficiency. The results indicate that the homozygotes were devoid of immunologically identifiable A subunit, whereas the heterozygotes could be identified by measuring this protein. The subunit S has been found to be decreased both in homozygous and in heterozygous patients, so that it seems that the two subunits, even if their synthesis is controlled by different genes, are genetically related. The mode of transmission of this disorder, supported by quantitative determinations of plasma subunit A, is autosomal recessive.

Factor XIII↗
PubMed1977

The aspirin tolerance test in von Willebrand's disease.

Opinions about the clinical value of aspirin tolerance test proposed by Quick von Willebrand's disease are conflicting. The results of the present study seem to support the view that a platelet defect, induced by aspirin, causes a significant lengthening of bleeding time only in the cases with severe von Willebrand factor deficiency.

Aspirin↗
PubMedDate not supplied

Treatment of acute lymphoblastic leukemia in adults.

Thirty-seven adult patients with acute lymphoblastic leukemia were treated with a protocol called HEAV'D including Adriamycin, Vincristine, L-Asparaginase, Cyclophosphamide and Dexamethasone. The complete remission rate was 70 per cent. The median duration of remission was more than 30 months. Patients with initial leukocyte count below 20 000/mmc experienced a longer remission (median not reached) than patients with a leukocyte count above 20 000/mmc (median 10 months).

Adolescent↗
PubMedDate not supplied

The von Willebrand factor.

Von Willebrand factor (vWf) is a multimeric and multivalent adhesive protein which is essential for platelet adhesion to subendothelium and for stabilization of factor VIII procoagulant activity in circulation. The quantitative measurement of vWf involves essentially two different approaches. The first is based on the interaction between vWf and Gp Ib of the platelet membrane in presence of ristocetin (ristocetin cofactor activity, RiCof) and depends not only on the amount of the factor but also on its ability to bring about this interaction, large multimers being more active. The second approach involves the immunological quantitation of vWf (vWf:Ag) by its interaction with specific polyclonal or monoclonal antibodies as measured by several methods, i.e., electroimmunoassay, immunoradiometric assay and immunoenzymatic assay. Although in the majority of type II von Willebrand disease (vWd) with dysfunctional vWf there is a discrepancy between RiCof and vWf:Ag, it should be emphasized that RiCof activity does not entirely reflect the 'true' activity of vWf since it does not explore all the functions of this factor; furthermore, the relationship between degree of multimerization and RiCof level is not always tenable, as for example in vWd 'Vicenza'. For the diagnosis of congenital and acquired vWd RiCof assay together with family investigation is the eligible test, with an estimated ability to detect at least 50% of the carriers of the abnormal gene, including mildly affected patients; vWf:Ag appears less sensitive and, on the basis of studies carried out in our laboratory, a relative sensitivity of 64% is proposed. Both assays require the definition of separate normal ranges for children and adults and for 0 and non-0 blood group subjects; a nonparametric approach in a large sample of normal subjects is advisable. With RiCof assay performed by an aggregometric method using formalin-fixed platelets an interassay variability of 6% and 8.5% respectively for high- and low-control plasma was found in our laboratory. With vWf:Ag assayed by an ELISA method a variability of 7% for low- and 6% for high-control plasma was found. Thus, both methods appear sufficiently precise for clinical use. The use of an internal pool calibrated against an international standard allows to perform comparable interlaboratory measurements. To further improve standardization of these assays, collaborative studies seem urgently required.

Adult↗
PubMedDate not supplied

A new Italian family with severe prekallikrein deficiency. Desmopressin-induced fibrinolysis and coagulation changes in homozygous and heterozygous members.

In this paper we report the case of a new Italian family with severe cross-reacting material prekallikrein deficiency (CRM-). The proposita is a 22-year-old woman referred for evaluating an extremely prolonged activated partial thromboplastin time (APTT) detected during a routine screening. No clearcut bleeding history was reported. Prekallikrein antigen and activity were not measurable. The other contact-phase factors were within the normal range. Using an electromechanical coagulometer, six different commercial reagents yielded a markedly prolonged APTT (ratio greater than 2). By prolonging the incubation time up to 10 min, APTT was normalized only with reagents employing ellagic acid as activator. On the contrary, APTT remained markedly prolonged using particulate activators (i.e. micronized silica and celite). No differences were observed using either rabbit or bovine brain cephalin. APTT was also performed on a laser automated ACL instrument; in this case reagents using ellagic acid yielded only moderately prolonged APTT values (ratio 1.3 vs 1.4). The intrinsic fibrinolytic activity, as assessed by blood activator inventory test, was found to be moderately reduced (about 50% of normal) in the proposita, whereas normal values were measured in the heterozygous relatives. After infusion of 0.3 micrograms/kg 1-desamino-8-D-arginine vasopressin (DDAVP), kallikrein levels did not change in the proposita and her heterozygous relatives. A normal release of tissue-plasminogen activator, as assessed by fibrin-plate assay, was observed in all family members including the proposita.

Adult↗
PubMedDate not supplied

Failure to measure plasma activated factor XIII during disseminated intravascular coagulation.

The search for activated products of coagulation factors in blood is of considerable clinical interest because its detection would indicate activation of the clotting system. Factor XIII circulates as inactive zymogen and becomes enzymatically active after thrombin or factor Xa activation. Employing an amine-incorporating system, activated factor XIII was measured in normal and pathological plasma from leukemic patients with overt laboratory signs of disseminated intravascular coagulation (DIC). Only traces of the activated factor were detected in both normal and DIC plasma. The method, sensitive and specific, as shown by the results of measurements on the plasma of 8 patients with congenital deficiency and on normal serum, did not prove to be useful for detecting pathological in vivo thrombin generation.

Acute Disease↗
PubMedDate not supplied

A follow-up study of 49 adult patients with idiopathic thrombocytopenic purpura treated with high-dose immunoglobulins and anti-D immunoglobulins.

BACKGROUND: We analyze here short- and long-term results in 49 patients with idiopathic thrombocytopenic purpura (ITP), consecutively treated with high-dose (h.d.) immunoglobulins (Ig) or anti-D Ig. The major aims of this study were to assess the prognostic power of some patient characteristics and to verify the possibility that repeated courses of treatment can induce a stable remission. Moreover, the relative efficacy and safety of these two treatments were compared. PATIENTS AND METHODS: Group A included 28 patients with chronic ITP and 17 with ITP of recent onset who were receiving h.d. Ig; Group B included 5 patients with ITP of recent onset and 7 with chronic ITP treated with anti-D Ig. Eight cases, receiving both treatment, were included in both groups. Response to treatment was defined as any increase in platelet count above 30 x 10(9)/l, when the platelet count was less than 10 x 10(9)/l, or any doubling of the basal platelet count otherwise. Remission was defined as any platelet count higher than 100 x 10(9)/l lasting for 3 months or longer without therapy. RESULTS AND CONCLUSIONS: Cumulative response and remission rate was not statistically different in the two groups. Multivariate logistic regression analysis showed no influence of sex, previous therapy or duration of disease. Patients older than 60 years were definitely less responsive to h.d. Ig (58% vs 92%, p = 0.03). In Group A, two patients obtained remission after the first course of h.d. Ig. No additional remissions were obtained by repeated courses of h.d. Ig, apart from a single case of ITP of recent onset.(ABSTRACT TRUNCATED AT 250 WORDS)

Adult↗
PubMedDate not supplied

An unusually prolonged case of heparin-induced thrombocytopenia and disseminated intravascular coagulation.

An unusually prolonged case of heparin-induced severe thrombocytopenia and decompensated disseminated intravascular coagulation (DIC) is described. The patient, treated with heparin at a dosage of 25,000 units/day for 3 days and 12,500 units/day for an additional 4 days because of a clinically suspected deep venous thrombosis, developed (4 days after the discontinuation of heparin) a clinical and laboratory picture of severe DIC, manifested by subcutaneous hematomas and ecchymoses. Platelet count was 24 x 10(9)/l, fibrinogen level 89 mg/dl and fibrin-degradation products between 3,200 to 6,400 ng/ml. A thorough laboratory and instrumental evaluation failed to demonstrate any underlying disorder. No heparin-dependent aggregating factor was detected in the serum of the patient. The patient recovered spontaneously. Whereas fibrinogen and fibrin-degradation products reverted to normality within four weeks, platelet count normalization was delayed until the sixth week after heparin discontinuation.

Aged↗
PubMedDate not supplied

Fulminant sepsis in adults splenectomized for idiopathic thrombocytopenic purpura.

BACKGROUND AND METHODS: Splenectomy is still a mainstay in the treatment of idiopathic thrombocytopenic purpura (ITP). Although the risk of fulminant sepsis after splenectomy in children and in adults has been known for a long time, the true prevalence of fulminant sepsis in adults splenectomized for ITP has still not been well established, despite many anecdotal reports. In this paper we have tried to estimate this risk by reviewing the available literature and by analyzing a large cohort of adults splenectomized for ITP at our Institute since 1970. RESULTS: Two cases of fulminant sepsis (a 21-year-old man and a 24-year-old woman) were traced in a group of 133 splenectomized adults, with a crude incidence of 1.5% or, equivalently, of 0.17 cases per 100 patient-years. No case of sepsis occurred in a control group of 323 non splenectomized ITP adults. This estimation seems sufficiently precise for the large population analyzed and the duration and completeness of follow-up (1,126 patient-years, mean 101 months, 2 patients lost from follow-up), and it is in agreement with the estimations yielded by a literature review (1.8%). CONCLUSIONS: The risk of fulminant sepsis seems to be a real hazard in adults splenectomized for ITP, and a conservative approach in recommending splenectomy seems advisable. Antipneumococcal vaccination should also be recommended.

Adolescent↗
PubMedDate not supplied

Long-lasting remission after high-dose intravenous immunoglobulins in a case of relapsing thrombotic thrombocytopenic purpura.

Long-lasting remission after high-dose intravenous immunoglobulins in a case of relapsing thrombotic thrombocytopenic purpura (TTP) is reported. The patient had two early relapses after intensive plasma-exchange therapy. Serum platelet aggregating factor was absent. High-dose intravenous immunoglobulins (i.v. Ig) (0.4 g/Kg/day for 5 days) were infused. Platelet count promptly rose and 7 days after the completion of immunoglobulins complete response was obtained. The patient is still in complete remission, without further Ig infusion, 19 months later. This case adds to the anecdotal reports on the effectiveness of Ig, even when not associated with other treatments, in TTP. High-dose i.v. Ig could be successfully used in relapsing or unresponsive patients with TTP.

Blood Coagulation Factors↗
PubMedDate not supplied

Fibrinolytic studies in 13 unrelated families with factor XII deficiency.

BACKGROUND AND METHODS: We report the results of extensive "in vitro" fibrinolytic studies in 18 homozygous and 14 obligatory heterozygous subjects belonging to 13 unrelated families with factor XII deficiency. All homozygotes had unmeasurable factor XII activity (XII:C) and antigen (XII:Ag). None had bleeding symptoms, whereas a myocardial infarction occurred in one of them at age 51. In heterozygotes XII:C and XII:Ag were 55.9 +/- 14.1% and 52.1 +/- 16.4% (corresponding figures in 40 normals 100.6 +/- 18.3% and 101.5 +/- 29.7%). Total intrinsic fibrinolytic activity was assayed on fibrin plates in the dextran sulfate euglobulin fraction of plasma from resting subjects, to which flufenamate was added to inhibit blood plasminogen activator inhibitors. RESULTS: Fibrinolytic activity was reduced in all homozygotes (40 +/- 12 BAU/ml) in comparison to heterozygotes (103 +/- 12 BAU/ml) and normals (98 +/- 20 BAU/ml). The addition of purified activated beta-XII led to a complete restoration of fibrinolysis in homozygotes. The addition of anti-urokinase antibodies completely suppressed the reduced intrinsic fibrinolytic activity in homozygotes (4 +/- 7 BAU/ml), whereas a reduction to about 50% was evident in heterozygotes and normals. CONCLUSIONS: Our data confirm that reduced "in vitro" intrinsic fibrinolytic activity is a common finding in homozygous factor XII deficiency and that two independent mechanisms, one factor XII-dependent and urokinase-independent and the other factor XII-independent and urokinase-dependent, are responsible for the generation of intrinsic fibrinolysis in human plasma.

Adolescent↗
PubMedDate not supplied

Thrombotic complications during L-asparaginase treatment for acute lymphocytic leukemia.

We report 2 new cases of thrombosis occurring in a cohort of 21 consecutive patients with acute lymphocytic leukemia treated with L-asparaginase (L-ase), 6,000 U/die s.c. or i.m. days 15-21 from start of chemotherapy, according to the GIMEMA LAL 0288 protocol. The first patient died of massive diffuse thromboembolism (thrombosis of sagittal sinus and of suprahepatic veins and pulmonary arteries; multiple hepatic and splenic infarctions) associated with markedly reduced levels of protein C, antithrombin III and plasminogen. In the second patient, portal vein thrombosis developed soon after the completion of L-ase. Antithrombin III was reduced, whereas protein C level was normal. Therapy with fresh frozen plasma and subcutaneous calcium heparin (12,500 U twice daily) proved successful, and 8 days later abdominal echotomography revealed the complete disappearance of the thrombus. The incidence of thrombosis is similar to that previously found in a cohort of consecutive patients treated at our Department with a different schedule and dosage of L-ase administration, and similar to that reported in previous series.

Adolescent↗
PubMedDate not supplied

[Therapy with high-dose intravenous gamma globulin in the newborn infant with thrombocytopenia from passive immunization].

High doses of gammaglobulin intravenously have been found useful in controlling thrombocytopenia of a neonate born to a mother who developed acute idiopathic thrombocytopenic purpura during pregnancy. Administration of 0.4 gm/kg/day of intact gammaglobulin intravenously for five days was followed by dramatic rise of platelet count without any side-effect. After 1 month the platelet count was still normal. Passively-acquired immune thrombocytopenia of the newborn consequently is another indication for intravenous gammaglobulin therapy.

Humans↗
PubMedDate not supplied

Treatment of hemophilia.

The therapy of hemorrhagic symptoms and the prevention of subsequent chronic disability in patients with hemophilia A and B are based on the appropriate use of specific concentrates of the deficient blood-clotting factors. The proper amount of the factor to infuse is calculated on the basis of the following parameters: patient's weight; type, location and severity of the hemorrhage to be controlled or prevented; biological half-life and yield of the infused factor. The elaboration of the therapeutic regimens to be followed in specific clinical situations is based on the above-mentioned parameters, which are fully discussed in this review. However, in the overall approach to hemophilia care, there are various other aspects, apart from strictly pathophysiological considerations. There are psychological, social and practical aspects which account for a number of specific proposals for therapeutic procedures to be used in certain circumstances (all discussed in the present report) and which should be considered separately. An example of the above is home therapy of hemophilia, which is fundamentally based on the observation that hemarthroses and hematomas account for over 90% of hemorrhagic episodes, with an average frequency of approximately 40 episodes/year/subject. It is therefore clearly understood that only early administration of specific concentrates will effectively prevent chronic joint damage, still the main cause of disability in the life of the hemophiliac. Annual average consumption of concentrates per patient is principally linked to the therapy of this type of hemorrhage and is, in turn, also influenced by the minimum effective dose for treatment of single episodes. Although this problem has not been completely solved, there is sufficient consensus that administration of 250 IU of concentrate (factor VIII or IX) in children and 500 IU in adults is effective, providing that hemarthroses and muscle hemorrhages are of a minor degree and are promptly treated. This approach leads to an average annual individual consumption of approximately 10,000 IU in children and 20,000 IU in adults, only for these episodes. A therapeutic regimen which is being increasingly used consists of treatment of acute synovitis with brief periods of prophylactic administration of concentrates (1-3 months), with the intention of interrupting the hemarthrosis-synovitis vicious circle and to allow for physiotherapy to avoid synovectomy.(ABSTRACT TRUNCATED AT 400 WORDS)

Adult↗