Chromosomal anomalies are recognised in approximately 0.5%-0.6% of all foetus, and are responsible for 12% of all congenital defects, the majority of which are not diagnosed until after birth. The indicators of possible chromosomopathies may be, clinical, biochemical, and ecographic (both foetal and adnexal). Nicolaides proved the relationship between nucal translucency and the relative risk of trisomy. When there are positive markers during the week 10 scan, the patient should be offered the possibility of invasive prenatal screening to confirm the diagnosis.

Background: To assess the risk factors associated with genotypic resistance to protease inhibitors (PI) in HIV-infected subjects with virologic failure despite highly active antiretroviral treatment (HAART).Patients and method: Retrospective chart review including 47 consecutive patients with virologic failure despite PI-based HAART who had undergone a genotypic HIV-1 testing. The prevalence of genotypic resistance to PI was determined and several demographic, clinical and laboratory variables were compared between patients with and without genotypic resistance to those drugs.Results: The entire nucleotide sequence of the protease gene was obtained in 43 of the 47 patients; 18 of them had genotypic resistance to PI. Genotypic resistance to PI was associated with a previous therapy with suboptimal antiretroviral regimens (OR = 10.2; 95% Cl, 1.05-245.1; P = 0.02), duration of antiretroviral therapy longer than 18 months (OR = 13.3; 95% Cl, 1.23-340.85; P = 0.01), greater number of antiretroviral regimens and drugs before the virologic failure (p < 0.01) and presence of the 184V mutation in the reverse transcriptase gene (OR = 5.6; 95% Cl, 1.2-29.2; P = 0.02). There was no relationship between PI resistance and the risk group, viral load or CD4 cell count. In the multivariate analysis, previous therapy with suboptimal antiretroviral regimens was the better predictor of PI resistance (OR = 11.1; 95% Cl, 1.04-117.47; P = 0.046).Conclusions: Patients treated with suboptimal antiretroviral activity regimens before starting HAART can be at greater risk of developing genotypic resistance to protease inhibitors.

BACKGROUND:To assess genotypic resistance mutations in patients with virological failure with highly active antiretroviral therapy (HAART) METHODS: Genotyping of reverse transcriptase (RT) and protease (PRO) HIV-1 genes were carried out in 33 adherent patients failing on HAART.RESULTS:Resistance mutations were found in 32 of the 33; 27 of them (81.8%) being primary mutations: 26 (78.8%) in the RT gene and 60 (60.6%) in the PRO gene. Overall, 66.6% had genotypic resistance to two drugs and 60.6% showed resistance to drugs belonging to the two main classes of antiretroviral drugs. At the time of treatment failure, 72.7% had on their therapeutic regimen one antiretroviral drug to which they had resistance mutations, 48.5% had genotypic resistance to two drugs of the therapeutic regimen and 21.2% to three drugs.CONCLUSIONS:Most adherent patients failing on HAART carry drug resistant genotypes. These patients may constitute a reservoir of multidrug resistant HIV that may limit treatment options in the future.

BACKGROUND: Inflammatory mediators have recently been implicated as potential markers of severity in acute pancreatitis. AIMS: To determine the value of neopterin and polymorphonuclear (PMN) elastase as markers of activation of cellular immunity and as early predictors of disease severity. PATIENTS: Fifty two non-consecutive patients classified according to their clinical outcome into mild (n = 26) and severe pancreatitis (n = 26). METHODS: Neopterin in serum and the PMN elastase/A1PI complex in plasma were measured during the first three days of hospital stay. RESULTS: Within three days after the onset of acute pancreatitis, PMN elastase was significantly higher in the severe pancreatitis group. Patients with severe disease also showed significantly higher values of neopterin on days 1 and 2 but not on day 3 compared with patients with mild disease. There was a significant correlation between PMN elastase and neopterin values on days 1 and 2. PMN elastase on day 1 predicted disease severity with a sensitivity of 76.7% and a specificity of 91.6%. Neopterin did not surpass PMN elastase in the probability of predicting disease severity. CONCLUSIONS: These data show that activation of cellular immunity is implicated in the pathogenesis of acute pancreatitis and may be a main contributory factor to disease severity. Neopterin was not superior to PMN elastase in the prediction of severity.