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San Giovanni Rotondo, Italy

Firinu D.,University of Cagliari | Bafunno V.,University of Foggia | Vecchione G.,Atherosclerosis and Thrombosis Unit | Barca M.P.,University of Cagliari | And 4 more authors.
Clinical Immunology | Year: 2015

Sporadic and familiar forms of non-histaminergic angioedema and normal C1 inhibitor encompass a group of disorders possibly caused by bradikinin. We aimed to study the subgroups of hereditary angioedema with FXII mutation (FXII-HAE), unknown genetic defect (U-HAE) and idiopathic non-histaminergic acquired angioedema (InH-AAE). We screened the F12 locus in our cohort and delineated the clinical, laboratory and genetic features. Four families carried the p.Thr309Lys mutation in F12 gene. Haplotyping confirmed the hypothesis of a common founder. Six families were affected by U-HAE and 13 patients by sporadic InH-AAE. C4 levels were significantly lower in FXII-HAE than in InH-AAE. In the FXII-HAE group, none had attacks exclusively in high estrogenic states; acute attacks were treated with icatibant. Prophylaxis with tranexamic acid reduced the attack frequency in most patients. Our study provides new data on the diagnosis, clinical features and treatment of non-histaminergic angioedema, underlying the role of the screening for F12 mutations. © 2015 Elsevier Inc.

Bafunno V.,University of Foggia | Santacroce R.,University of Foggia | Margaglione M.,University of Foggia | Margaglione M.,Atherosclerosis and Thrombosis Unit
Thrombosis Research | Year: 2011

Protein Z (PZ) is a vitamin K-dependent factor identified in human plasma in 1984 characterized by an homology with other vitamin K-dependent factors. PZ acts as the cofactor of the PZ dependent inhibitor (ZPI), in the inhibition of activated factor X bound on phospholipid surface. In humans, PZ is characterized by an unusual wide distribution in plasma partly explained by a genetic control. Several PZ gene polymorphisms influencing plasma concentration have been described. In mice, the disruption of PZ gene is asymptomatic, but in association with homozygous FV Leiden produced a severe prothrombotic phenotype. This review analyzes the results obtained from different studies so far published in order to understand whether PZ deficiency could be considered as a risk factor for venous thrombosis. The roles of PZ plasma level and PZ gene polymorphisms remain debated with conflicting results. Many of these studies reported low PZ levels in association with an increased risk of venous thrombosis. On the other side, some studies did not observe an association between low levels of PZ and thrombotic events. A relationship between PZ deficiency and pregnancy complications was also described but not confirmed by all studies. These discrepancies can be explained by the heterogeneity of populations chosen as control, by the PZ interindividual variability and by the small size of the cohorts in mainly retrospective studies. Large prospective studies remain to be done to investigate its possible role in thrombosis. © 2011 Elsevier Ltd. All rights reserved.

Markoff A.,Institute For Medizinische Biochemie | Gerdes S.,Institute For Medizinische Biochemie | Feldner S.,Institute For Humangenetik | Bogdanova N.,Institute For Humangenetik | And 2 more authors.
Placenta | Year: 2010

We aimed to trace the allele specific expression of ANXA5 mRNA in placentas carrying the M2 haplotype, conferring higher recurrent pregnancy loss risk, in order to verify directly the role of M2 in the relevant organ. The M2 allele in heterozygous placentas results in an average of 42% reduced ANXA5 mRNA levels as compared to the normal allele. Protein levels in these samples show considerable variations, impossible for statistical interpretation. The M2 allele of ANXA5 can be linked to reduced mRNA levels in heterozygous placentas and could result in more confined protein levels (lowered expression dynamics) of annexin A5. © 2010 Elsevier Ltd. All rights reserved.

Dentali F.,University of Insubria | Ageno W.,University of Insubria | Rezoagli E.,University of Insubria | Rancan E.,University of Insubria | And 3 more authors.
Journal of Thrombosis and Haemostasis | Year: 2012

Background: It was hypothesized that low-dose aspirin could improve implantation rates in subsequent pregnancies in women undergoing in vitro fertilization (IVF)/intracytoplasmic sperm injection (ICSI). Previous studies have shown inconclusive results or focused on surrogate endpoints. We therefore conducted a systematic review and meta-analysis of the literature investigating the effect of low-dose aspirin on hard outcomes, including live birth rate, pregnancy rate and miscarriage. Methods: MEDLINE and EMBASE databases were searched up to November 2011. Randomized controlled trials comparing low-dose aspirin with placebo/no treatment in IVF/ICSI women were included. Pooled odds ratios (ORs) and 95%confidence intervals (CIs) were calculated. Results: Seventeen studies with 6403 patients were included. The use of aspirin did not improve live birth pregnancy rate compared with placebo or no treatment (1.08; 95% CI, 0.90, 1.29). Pregnancy rates were significantly increased in patients randomized to low-dose aspirin (OR, 1.19; 95% CI, 1.01, 1.39), but miscarriage rates were not (OR, 1.18; 95% CI, 0.82, 1.68). Results of sensitivity analyses including high-quality studies did not show statistically significant differences in all considered endpoints. Conclusions: The results of this study do not show a substantial efficacy of aspirin inwomen undergoing IVF/ICSI and do not support the use of low-dose aspirin to improve the success of IVF/ICSI in terms of pregnancy outcomes. Further high-quality studies evaluating the possible efficacy of aspirin in selected groups of patients are warranted. © 2012 International Society on Thrombosis and Haemostasis.

Grandone E.,Atherosclerosis and Thrombosis Unit | Villani M.,Atherosclerosis and Thrombosis Unit
Thrombosis Research | Year: 2015

In this article, we address issues about thrombotic risk and use of antithrombotic prophylaxis during assisted reproductive technologies (ART) and during pregnancies after ART. Many aspects of these complications remain not completely understood and data about incidence, pathogenesis, duration and magnitude of the risk, role of thrombophilias and thromboprophylaxis in determining first events and recurrences are lacking. The role of known or possible risk factors and the efficacy of antithrombotic prophylaxis will be discussed. © 2015 Elsevier Ltd. All rights reserved.

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