THROMBOPHILIC SCREENING IN TURNER SYNDROME.

Aim: The aim of this study was to determine, in patients with Turner syndrome (TS), the prevalence of thrombophilic disorders correlating with a higher risk of venous thromboembolism (VTE), to evaluate if thrombophilia is associated with the genetic features of these patients and whether screening before hormone replacement therapy (HRT) is advisable. Patients and methods: We examined 82 TS patients. In all patients we analyzed activated factor VIII:C, fibrinogen, antithrombin (AT), protein C (PC), protein S (PS), activated PC resistance, and homocysteine. For every patient, an investigation for mutations in prothrombin G20210A, factor V R506Q, methylenetetrahydropholate reductase (MTHFR) C 677T and A1298C was conducted. Results: Low values of PC in 3 patients (3.70%), low values of PS in 12 (14.81%), and hyperhomocysteinemia in 4 (4.87%) were found; 52 girls (64.2%) presented hyperfibrinogenemia. Three patients were heterozygous for the prothrombin G20210A allele mutation (3.66%) and the factor V mutation was present in 4 patients (4.88%). No TS patient had a homozygous mutation. Mutations in the MTHFR gene were present in 62 girls, in 17 patients (20.7%) they were homozygous and in 45 patients (54.88%) heterozygous. Conclusions: Considering the increased risks with the association between VTE and the higher prevalence of PC and PS deficiencies, TT genotype mutations and high level of fibrinogen, it is advisable to perform a complete thrombophilia screening in TS patients before starting HRT. ©2011, Editrice Kurti

Platelet size distinguishes between inherited macrothrombocytopenias and immune thrombocytopenia.

Distinguishing inherited thrombocytopenias from immune thrombocytopenia (ITP) can be difficult, and patients are therefore at risk of misdiagnosis and inappropriate treatments. Although it is known that the most common inherited forms of thrombocytopenia are characterized by increased platelet size, the diagnostic power of this feature has never been investigated. OBJECTIVES: The aim of this study was to test the hypothesis that platelet size can be used to differentiate ITP from inherited macrothrombocytopenias. Patients/methods: We measured mean platelet volume (MPV) and mean platelet diameter (MPD), within 2 h of blood sampling, in 35 patients with inherited macrothrombocytopenias [15 MYH9-related disease (MYH9-RD), three biallelic and 17 monoallelic Bernard-Soulier syndrome (BSS)], and 56 with ITP. Using receiving operating characteristic analysis, we searched for the best cut-off values to differentiate between these conditions. RESULTS: As expected, platelets were larger in inherited macrothrombocytopenias than in ITP. An MPD larger than 3.3 mum differentiated MYH9-RD and BSS from ITP with 0.89 sensitivity and 0.88 specificity, and an MPV larger than 12.4 fL had 0.83 sensitivity and 0.89 specificity. Combining MPD with MPV increased sensitivity and specificity to 0.97 and 0.89, respectively. CONCLUSION: Platelet size evaluation by both an appropriate cell counter and blood film examination is useful for differentiating inherited macrothrombocytopenias from ITP

Platelet size distinguishes between inherited macrothrombocytopenias and immune thrombocytopenia.

BACKGROUND: Distinguishing inherited thrombocytopenias from immune thrombocytopenia (ITP) can be difficult, and patients are therefore at risk of misdiagnosis and inappropriate treatments. Although it is known that the most common inherited forms of thrombocytopenia are characterized by increased platelet size, the diagnostic power of this feature has never been investigated. OBJECTIVES: The aim of this study was to test the hypothesis that platelet size can be used to differentiate ITP from inherited macrothrombocytopenias. Patients/methods: We measured mean platelet volume (MPV) and mean platelet diameter (MPD), within 2 h of blood sampling, in 35 patients with inherited macrothrombocytopenias [15 MYH9-related disease (MYH9-RD), three biallelic and 17 monoallelic Bernard-Soulier syndrome (BSS)], and 56 with ITP. Using receiving operating characteristic analysis, we searched for the best cut-off values to differentiate between these conditions. RESULTS: As expected, platelets were larger in inherited macrothrombocytopenias than in ITP. An MPD larger than 3.3 mum differentiated MYH9-RD and BSS from ITP with 0.89 sensitivity and 0.88 specificity, and an MPV larger than 12.4 fL had 0.83 sensitivity and 0.89 specificity. Combining MPD with MPV increased sensitivity and specificity to 0.97 and 0.89, respectively. CONCLUSION: Platelet size evaluation by both an appropriate cell counter and blood film examination is useful for differentiating inherited macrothrombocytopenias from IT

A rapid D-dimer assay in patients presenting at an emergency room with suspected acute venous thrombosis: accuracy and relation to clinical variables

Background and Objectives. The measurement of D-dimer is claimed to have potential value in excluding deep vein thrombosis (DVT). New rapid methods have been proposed, but few clinical trials have assessed their performance in an emergency context. The different accuracies found between the D-dimer assays have been related to the test used (latex or ELISA), but other variables (such as population investigated, thrombus extension, duration of symptoms or concomitant heparin treatment) may be important, even if not sufficiently investigated. Design and Methods. We evaluated the accuracy of a rapid semi-quantitative D-dimer test (Dimertest (R), Dade Behring), with reference to: a) its use at an emergency unit; b) concomitant heparin administration; c) location of venous thrombosis (VT) (in the deep or superficial venous system limited to the great saphenous vein) and d) symptoms older than 14 days. Results. Two hundred and ninety-eight patients suspected of having DVT and 116 suspected of thrombosis of the great saphenous vein (GSV) were investigated. In the DVT patients, the sensitivity, specificity, positive and negative predictive values were 77.4% (95% CI 68.9-85.9), 81.4% (95% CI 76.1-86.7),65.4% (95% CI 56.5-74.3) and 88.8% (95% CI 84.2-93.4), respectively. Excluding patients receiving heparin and those with symptoms older than 15 days, the sensitivity and negative predictive value increased to 86.3% (95% CI 78.4-94.2) and 92.8% (95% CI 88.4-97.2), respectively. In patients with GSV thrombosis, the sensitivity, specificity, positive and negative predictive values were 48% (95% CI 34.5-61.5), 90.6% (95% CI 83.2-97.9), 80.6% (95% CI 66.6-94.6) and 68.2% (95% CI 57.8-78.6), respectively. Excluding patients receiving heparin and those with symptoms older than 15 days, did not change the sensitivity or negative predictive value significantly. Interpretation and Conclusions. Our results show that previous or concomitant heparin administration, non-acute symptoms and thrombosis localized to superficial veins reduce the clinical usefulness of the D-dimer test as the rate of false negative results is increased. (C) 2001, Ferrata Storti Foundation

DECLINE OF MATERNAL HAV ANTIBODIES IN NEONATAL COHORT.

Clinical Microbiology Infection 2002; 8 (1): 307 (P1322)

Epidemiology and outcome of Clostridium difficile infections in patients hospitalized in Internal Medicine: Findings from the nationwide FADOI-PRACTICE study

Background: Clostridium difficile (CD) is a leading cause of diarrhoea among hospitalized patients. The objective of this study was to evaluate the rate, the optimal diagnostic work-up, and outcome of CD infections (CDI) in Internal Medicine (IM) wards in Italy. Methods: PRACTICE is an observational prospective study, involving 40 IM Units and evaluating all consecutive patients hospitalized during a 4-month period. CDI were defined in case of diarrhoea when both enzyme immunoassay for GDH, and test for A/B toxin were positive. Patients with CDI were followed-up for recurrences for 4 weeks after the end of therapy. Results: Among the 10,780 patients observed, 103 (0.96 %) showed CDI, at admission or during hospitalization. A positive history for CD, antibiotics in the previous 4 weeks, recent hospitalization, female gender and age were significantly associated with CDI (multivariable analysis). In-hospital mortality was 16.5 % in CD group vs 6.7 % in No-CD group (p < 0.001), whereas median length of hospital stay was 16 (IQR = 13) vs 8 (IQR = 8) days (p < 0.001) among patients with or without CDI, respectively. Rate of CD recurrences was 14.6 %. As a post-hoc evaluation, 23 out of 34 GDH+/Tox- samples were toxin positive, when analysed by molecular method (a real-time PCR assay). The overall CD incidence rate was 5.3/10,000 patient-days. Conclusions: Our results confirm the severity of CDI in medical wards, showing high in-hospital mortality, prolonged hospitalization and frequent short-term recurrences. Further, our survey supports a 2-3 step algorithm for CD diagnosis: EIA for detecting GDH, A and B toxin, followed by a molecular method in case of toxin-negative samples