Perceived challenges and attitudes to regimen and product selection from Italian haemophilia treaters: the 2013 AICE survey.

Despite great advances in haemophilia care in the last 20 years, a number of questions on haemophilia therapy remain unanswered. These debated issues primarily involve the choice of the product type (plasma-derived vs. recombinant) for patients with different characteristics: specifically, if they were infected by blood-borne virus infections, and if they bear high or low risk of inhibitor development. In addition, the most appropriate treatment regimen in non-inhibitor and inhibitor patients compel physicians operating at the haemophilia treatment centres (HTCs) to take important therapeutic decisions, which are often based on their personal clinical experience rather than on evidence-based recommendations from published literature data. To know the opinion on the most controversial aspects in haemophilia care of Italian expert physicians, who are responsible for common clinical practice and therapeutic decisions, we have conducted a survey among the Directors of HTCs affiliated to the Italian Association of Haemophilia Centres (AICE). A questionnaire, consisting of 19 questions covering the most important topics related to haemophilia treatment, was sent to the Directors of all 52 Italian HTCs. Forty Directors out of 52 (76.9%) responded, accounting for the large majority of HTCs affiliated to the AICE throughout Italy. The results of this survey provide for the first time a picture of the attitudes towards clotting factor concentrate use and product selection of clinicians working at Italian HTCs.

Early urinary aldosterone excretion in very low birth weight infants.

UNLABELLED: HYPOTHESIS/ INTRODUCTION: In the neonatal period, many factors may interfere with aldosterone production but data currently available are few and controversial. In this study we aim to assess the early urinary aldosterone excretion (UAE) in very low birth weight (VLBW) infants and to identify some possible clinical and biochemical variables that may influence this excretion. MATERIALS AND METHODS: We conducted a prospective study in 30 VLBW infants. Aldosterone was measured in the first 72 hours of life in the urine and plasma and urinary electrolytes were determined. Demographic and clinical data were also recorded. RESULTS: The exploratory analysis showed that a significant positive correlation exists between UAE and gestational age and birth weight and that infants with respiratory distress syndrome have higher urinary aldosterone levels than infants without respiratory distress, but only plasma sodium resulted a significant independent factor that negatively influenced UAE at linear regression analysis (coefficient -0.02, 95% confidence interval [-0.03; -0.004]; adjusted R(2) 0.33). CONCLUSIONS: The renin-angiotensin-aldosterone system of VLBW infants seems to be able, even immediately after birth, to respond to variations of plasma sodium concentrations; measurement of UAE constitutes an interesting method to determine aldosterone production, avoiding blood sampling in neonates so small and frail as VLBW infants.

Hyperhomocysteinemia and C677T MTHFR genotype in patients with retinal vein thrombosis.

INTRODUCTION: Elevated homocysteine (Hcy) is associated with the risk of deep vein thrombosis, pulmonary embolism, ischemic heart disease, and stroke. Several studies have suggested that hyperhomocysteinemia (HHcy) may predispose to retinal vein thrombosis (RVT) development. The aim of this study is to investigate the relationship between Hcy, C677T methylenetetrahydrofolate reductase (MTHFR) genotype, and RVT in patients compared with controls. MATERIALS AND METHODS: We evaluated the Hcy plasma level of 3114 consecutive participants in 2 Italian centers during a 2-year period. Hyperhomocysteinemia was found in 99 patients and 136 healthy participants. Of the 99 patients, 20 had RVT with a high prevalence of HHcy in the RVT subgroup (20.2%). This result suggested a possible relationship between HHcy and RVT development. We investigated 105 consecutive patients with recent diagnosis of RVT, and we compared them with 226 healthy controls to evaluate whether HHcy may be a risk factor for RVT. RESULTS: the prevalence of HHcy was higher in patients compared with controls (34.3% vs 14.2%; P < .001). The MTHFR C677T genotype was found in 69 of 105 (65.7%) patients with RVT (heterozygosity: 40 of 105 and homozygosity: 29 of 105). The control group showed the presence of MTHFR C677T genotype in 169 of 226 participants (74.8%; heterozygosity: 100 of 226 and homozygosity: 69 of 226) without difference between the 2 groups (P = .08). CONCLUSION: our study suggests that HHcy is a possible risk factor for RVT development, while no association was found between RVT and the C677T MTHFR genotype.

Neonatal colour Doppler ultrasound study: normal values of abdominal blood flow velocities in the neonate during the first month of life.

BACKGROUND: Doppler US to measure abdominal blood flow velocities (ABFV) is increasingly used to investigate intestinal haemodynamics in several clinical conditions in neonates. Studies that provide reference values of ABFV during the entire neonatal period are currently lacking. OBJECTIVE: To make available normal reference values of ABFV and Doppler indices in the coeliac trunk and superior mesenteric artery during the first month of life in term and healthy preterm infants. MATERIALS AND METHODS: ABFV were obtained with colour Doppler US in 69 neonates (12 term, 57 preterm) divided into four gestational age groups (25-28 weeks, 29-32 weeks, 33-36 weeks, and 37-41 weeks). RESULTS: ABFV increased with increasing gestational and postnatal age. We also provide normal reference values of ABFV and Doppler indices to compare with measurements of abdominal blood flow changes during the neonatal period for diagnostic, therapeutic and prognostic purposes. CONCLUSION: These longitudinal reference values provide a useful tool for assessing possible alteration in ABFV secondary to neonatal pathologies.

High incidence of factor V Leiden and prothrombin G20210A in healthy southern Italians.

Factor V Leiden (FVL) and G20210 prothrombin (FII G20210A) mutations are risk factors for thromboembolism. In Europe, FVL is more prevalent in the north (7%) than in the south (3%), whereas FII G20210A is more common in the south (3% to 7%) than in the north (2% to 5%). In Italy, the prevalence is 2% to 3% for both. The aim of this study was to assess if these polymorphisms could be more frequent in the south than in the rest of Italy. In 105 blood donors in southern Italy, the prevalence of FVL and FIIG20210A was 9.5% and 5.7%, respectively. These prevalence data are higher when compared with published data. The results of this study are as high as those observed in Greece and the Middle East. The diffusion of FVL and FII G20210A in the Mediterranean, consequent to Phoenician and Greek colonization, could be a reason for the high prevalence observed.

Role of hyperhomocystinemia in retinal vascular occlusive disease.

Elevated plasma homocysteine (Hcy) level is considered a risk factor for vascular diseases. In recent years, many scientific reports have suggested that hyperhomocystinemia may be associated with an increased risk of retinal vascular occlusive disease (RVOD). The prevalence of elevation of homocysteine in patients with a recent retinal vascular occlusion was compared to a health control group in this study. Forty-nine consecutive patients (22 M; 27 F) (age 26-85 years, mean 69) with diagnosis of retinal vascular occlusion were compared with 71 healthy controls. These patients underwent laboratory evaluation for plasma fasting total homocysteine, activated protein C resistance, protein C, protein S, antithrombin III, and antiphospholipid and anticardiolipin antibodies. The G20210 prothrombin gene mutation (FII G20210A) and Factor V Leiden mutation (FVL) were evaluated. None of these enrolled subjects had other prothrombic risk factors. The health control group consisted of healthy subjects from the general population, with no history or clinical evidence of retinal vascular disease, recruited during the same 2-year period. High fasting homocystinemia (higher than 15 mumol/L) was detected in 24/49 subjects (48.9%) (P < .0005). There was a high prevalence of hyperhomocystinemia: these data suggest an association between RVOD and high fasting homocystinemia. Elevated homocysteine may be an independent risk factor, and its assessment may be important in the investigation, management, and follow-up of patients with RVOD. Further controlled studies are necessary to clarify the exact role of hyperhomocystinemia in RVOD and to evaluate the appropriate therapeutic approach.

Which phototherapy system is most effective in lowering serum bilirubin in very preterm infants?

OBJECTIVE: To compare the effectiveness of various phototherapy systems in lowering serum bilirubin levels in preterm infants. METHODS: This randomized clinical trial enrolled 140 preterm infants with gestational age < or =30 weeks and presenting nonhemolytic hyperbilirubinemia. When total serum bilirubin level reached 6.0 mg/dl (102.6 micromol/l), eligible infants were randomly assigned to four study groups: conventional, fiberoptic Wallaby, fiberoptic Biliblanket, and combined phototherapy. Efficacy was assessed by comparing highest serum bilirubin levels, duration of treatment, and number of infants requiring exchange transfusion. RESULTS: Our results confirm that fiberoptic phototherapy, both Wallaby and Biliblanket, had the same effectiveness of conventional phototherapy. The best results have been obtained using combined phototherapy, which allowed to reach lower serum bilirubin levels, a shorter duration of treatment and a significant reduction of exchange transfusions. CONCLUSION: Our data suggest that combined phototherapy should be the method of choice in treating hyperbilirubinemia in very preterm infants.

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. MATERIALS AND METHODS: 102 consecutive women with unexplained pregnancy loss (55 with history of RPL, and 47 with history of stillbirth) were studied for hereditary thrombophilia. The health control group consisted of 217 healthy women from the general population. RESULTS AND CONCLUSIONS: Of the 55 women with recurrent abortions, we found the same prevalence for the FVL and the FII G20210A(9.1%, 5 pts). (p=NS compared to control group). Of the 47 women with stillbirth, 11 (23.4%) had the FVL and 9 (19.1%) had the FII G20210A(p<0.0005 for both mutations). In our experience the prevalence of FVL and the FII G20210Amutations was significantly higher in women with unexplained stillbirth, instead the prevalence of genetic thrombophilia was high but not statistically significant in women with recurrent pregnancy loss.

Thrombocytopenia in patients receiving oral anticoagulant therapy.

The aim of this report was to determine the frequency of thrombocytopenia in a cohort of 1,126 patients receiving oral anticoagulant therapy (OAT), and to compare the grade of thrombocytopenia and the severity of bleeding complications. Severe thrombocytopenia was observed in five patients, and moderate and light thrombocytopenia were observed in 208 patients. Thrombocytopenic patients receiving OAT presented five major and six minor hemorrhages. The presence of hepatitis markers and autoantibodies was assessed. All parameters at the time of the bleeding complication were in the therapeutic range.