Loop-mediated isothermal amplification (LAMP)-based method for detecting factor V Leiden and factor II G20210A common variants.

Automated methodologies allowing for rapid detection of Factor V Leiden and Factor II G20210A variants are desirable, due to a high number of tested patients. Here, we report a preliminary validation of a CE-marked in vitro diagnostic (IVD) certified method for simultaneous detection of Factor V Leiden and Factor II G20210A variants on whole blood samples. The novel method is based on Loop-mediated isothermal AMPlification (LAMP) applied for a duplex detection of Factor V Leiden and Factor II G20210A variants without requiring prior DNA extraction, whereas the routine one is a TaqMan SNP genotyping targeting genomic DNA.

Anemone study: prevalence of risk factors for superficial vein thrombosis in a large Italian population of blood donors.

Knowledge of the distribution of risk factors for superficial thrombosis (SVT) in low-risk population is fundamental to improve the prevention of the disease in each individual and high-risk settings of patients. Exact frequency data for the low-risk population are scarce, but could be useful for optimal use of prophylactic strategies against venous thrombosis. Blood donors represent a low-risk population, because are healthier than the general population.

Venous thromboembolism in assisted reproductive technologies: comparison between unsuccessful versus successful cycles in an Italian cohort.

Pregnancies after assisted reproductive technologies (ART) have been associated with an increased risk of venous thromboembolism (VTE). On the contrary, the magnitude of this risk in unsuccessful ART cycles (not resulting in a clinical pregnancy) has not yet been clearly defined. In this study, we evaluated the incidence of VTE in unsuccessful cycles and compared it with that recorded in successful cycles in the same study population.

Pregnancy-related venous thrombosis: comparison between spontaneous and ART conception in an Italian cohort.

Objective: To evaluate in an Italian cohort the incidence of venous thromboembolic events (VTE) in pregnancies after assisted reproductive technologies (ART).

Setting: Thrombosis and Haemostasis Unit at I.R.

Sex modulation of the occurrence of jak2 v617f mutation in patients with splanchnic venous thrombosis.

Background: The JAK2 V617F mutation is an independent risk factor for MPN and SVT. Gender-related differences in MPN distribution have been reported and, recently, variability in the JAK2 V617F allele burden between sexes has been suggested. We wondered whether gender would modulate the role of the JAK2 V617F mutation as susceptibility risk factor for SVT.

Annexin V expression in human placenta is influenced by the carriership of the common haplotype M2.

In a group of placentas from patients with preeclampsia or fetal growth restriction, reduced annexin V gene expression in those carrying the M2 haplotype was observed. This is the first "ex vivo" demonstration that annexin V gene expression in placentas is dependent on the M2 haplotype.

Gain-of-function gene mutations and venous thromboembolism: distinct roles in different clinical settings.

Objective: To calculate the prevalence of common gain of function gene mutations in patients with different clinical manifestations of venous thromboembolism.

Design And Setting: Case-control study in two hospitals in Italy.

Participants: 387 patients with venous thromboembolism and 286 controls.

Hyperhomocysteinaemia in chronic liver diseases: role of disease stage, vitamin status and methylenetetrahydrofolate reductase genetics.

Background/aims: The liver plays a key role in sulphur aminoacid metabolism hence, homocysteine metabolism may be impaired in chronic liver diseases. The aim of this study was to investigate, in patients affected by chronic liver diseases, (1) the prevalence of hyperhomocysteinaemia and (2) the role of its determinants such as the stage and the aetiology of disease, vitamin status, genetic documented alterations (methylenetetrahydrofolate reductase deficiency) and presence/absence of documented malignant evolution (hepatocellular carcinoma).

Material And Methods: One hundred and thirty patients with chronic liver disease (34 with chronic active hepatitis, 12 with fatty liver and 88 with liver cirrhosis) and 50 healthy age-matched control subjects were included into the study.