Dabigatran in ibrutinib-treated patients with atrial fibrillation and chronic lymphocytic leukemia: experience of three cases.

Ibrutinib is the first clinically approved inhibitor of Bruton's tyrosine kinase, an essential enzyme for survival and proliferation of B cells by activating the B-cell receptor-signalling pathway. Ibrutinib has been shown to be highly effective in B-cell malignancies and is recommended in current international guidelines as a first-line and/or second-line treatment of chronic lymphocytic leukemia. The drug has a favorable tolerability and safety profile but the occurrence of specific side effects (e.

Prevalence of IVS10nt-18G/A in Calabrian patients with moderate/mild hemophilia A and relation with Factor VIII inhibitor antibodies.

Hemophilia A is an X-linked bleeding disorder caused by widespread mutations in the factor VIII gene. In the course of a screening to research some hemophilia A mutations, our team has identified and posted a previously unreported nucleotide change in intron 10 in 20 patients with hemophilia A. We tried to identify a possible blood relationship between the people with this mutation, performing a backwards study of every family tree.

Factor XI deficiency: a description of 34 cases and literature review.

Factor XI (FXI) deficiency is a rare bleeding disorder, resulting in a wide range of bleeding manifestations, from asymptomatic bleeding to injury-related bleeding. First in this review, we give an overview of the basic pathophysiology, clinical manifestations, and management of FXI deficiency. Finally, we describe 34 members of 16 FXI-deficient kindreds from south Italy, diagnosed and followed at the Haemophilia, Haemostasis and Thrombosis Centre of Pugliese-Ciaccio Hospital, Catanzaro, during the past 20 years.

Mortality and causes of death in Italian persons with haemophilia, 1990-2007.

Although a number of studies have analysed so far the causes of death and the life expectancy in haemophilic populations, no investigations have been conducted among Italian haemophilia centres. Thus, the aim of this study was to investigate mortality, causes of deaths, life expectancy and co-morbidities in Italian persons with haemophilia (PWH). Data pertaining to a total of 443 PWH who died between 1980 and 2007 were retrospectively collected in the 30 centres who are members of the Italian Association of Haemophilia Centres that chose to participate.

Efficacy and safety of the long-term administration of low-molecular-weight heparins in pregnancy.

Pregnancy is associated with an increased risk of venous thromboembolism, which probably varies according to the presence of single or multiple thrombophilic defects. Acquired or inherited thrombophilia is moreover associated with adverse outcomes in pregnancy. For this reason, in the past, pregnant women at risk of venous thromboembolism or pregnancyes have been treated with oral anticoagulants or unfractionated heparin.

Effects of secondary prophylaxis started in adolescent and adult haemophiliacs.

While primary prophylaxis is a well-established and recommended method of care delivery for children with severe haemophilia, fewer studies have documented the benefits of secondary prophylaxis started in adolescence or adulthood. To evaluate the role of secondary prophylaxis started in adolescent and adult severe haemophiliacs, a retrospective observational cohort study was conducted in 10 Italian Centres that investigated 84 haemophiliacs who had bled frequently and had thus switched from on-demand to prophylactic treatment during adolescence (n = 30) or adulthood (n = 54). The consumption of clotting factor concentrates, the orthopaedic and radiological scores, quality of life and disease-related morbidity were compared before and after starting secondary prophylaxis.

Screening of mutations of hemophilia A in 40 Italian patients: a novel G-to-A mutation in intron 10 of the F8 gene as a putative cause of mild hemophilia A in southern Italy.

Hemophilia A is an X-linked bleeding disorder caused by widespread mutations in the human coagulation factor 8 gene. We have searched for mutations in factor 8 gene DNAs from 40 unrelated Italian patients with hemophilia A. All patients came from the same region (Calabria) and were followed-up at the same hemophilia center.

[Prothrombotic gene mutations in women with recurrent abortions and intrauterine fetal death].

Aim: The factor V Leiden mutation (FVL) and the G20210 prothrombin gene mutation (FII G20210A) are well-established risk factors for venous thromboembolism. In the recent years many scientific reports have suggested that these defects are associated with an increased risk of intrauterine fetal death. The aim of our study was to investigate the prevalence of these molecular defects in subjects with history of unexplained pregnancy loss.

Thrombosis in hemophiliacs with prothrombotic molecular defect.

Thrombosis in hemophiliacs is a very unusual event mostly reported in patients treated with concentrates containing large quantities of activated coagulation factors. A patient with hemophilia A is reported who had an acute myocardial infarction and in whom investigation for hereditary thrombophilia showed a prothrombotic molecular defect, the G20210A prothrombin mutation.

Genetic prothrombotic risk factors in women with unexplained pregnancy loss.

Introduction: Inherited thrombophilia has been associated with unexplained recurrent pregnancy loss (RPL) and stillbirth. This thrombotic tendency can manifest as thrombotic lesions in the placenta, and may lead to abortion and stillbirth. The aim of our case-control study was to investigate the prevalence of FVL and FII G20210A in women with adverse pregnancy outcome, compared to the prevalence of the same mutations in our health control group.

Chronic myelomonocytic leukemia: a test of a proposed staging system.

In an attempt to characterize the prognostic significance of the main clinical and hematological features of chronic myelomonocytic leukemia (CMML), 30 such patients were allocated the "modified Bournemouth score". The most significant separation of groups predictive of poorer survival was obtained by setting a cutoff at the median score value for the whole series (score,2). On this basis patients could be divided into two different groups whose survival probability as well as risk of acute transformation significantly differ each other (P less than 0.

Prognosis of chronic lymphocytic leukemia: analysis of one hundred cases.

One hundred patients with chronic lymphocytic leukemia (CLL) followed in our department between November 1969 and December 1982 were reviewed and classified according to the staging system proposed by the International Workshop on CLL (IWCLL). Analysis of actuarial survival curves revealed a significant chi-square value for heterogeneity and trend. In addition, thrombocytopenia and anemia appeared to be the most important risk factors.