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The first appraisal of butyltins (BT) contamination linked with imposex incidence in the Pacific coast of South America was performed in the current study. Imposex occurrence was analyzed in three muricid species ( Thais biserialis, T. brevidentata, and T. kiosquiformis) distributed along 14 sites from the coastal areas of Ecuador. All studied muricids species showed imposex, which was observed in 11 out of 14 sites. The highest imposex levels were observed in T. kiosquiformis collected inside the Gulf of Guayaquil [relative penis length index (RPLI) 9.0-40.7], whereas RPLI values for T. biserialis and T. brevidentata ranged from 4.0 to 26.1 and 0.0 to 1.9, respectively. Additionally, BT compounds [tributyltin (TBT), dibutylin (DBT), and monobutylin (MBT)] were determined in surface sediments collected in 6 of the sites (main harbor areas), and values ranged between 12.7 and 99.5 ng Sn g (dry weight) for TBT, 1.8 and 54.4 ng Sn g for DBT, and 44 and 340 ng Sn g for MBT. Although BT degradation indexes suggested an aged input of TBT, the high imposex levels detected in the current study suggest that international restrictions on TBT based antifouling paints were still not effective in Ecuador. Considering that the southern coast, especially nearby harbors inside the Gulf of Guayaquil, have shown to be contaminated by BTs, a combination of T. kiosquiformis and T. biserialis (the most sensitive species) can be used for future biomonitoring of Ecuador coastal areas. [ABSTRACT FROM AUTHOR]

Huntington's disease results from a CAG repeat expansion within the Huntingtin gene; this is measured routinely in diagnostic laboratories. The European Huntington's Disease Network REGISTRY project centrally measures CAG repeat lengths on fresh samples; these were compared with the original results from 121 laboratories across 15 countries. We report on 1326 duplicate results; a discrepancy in reporting the upper allele occurred in 51% of cases, this reduced to 13.3% and 9.7% when we applied acceptable measurement errors proposed by the American College of Medical Genetics and the Draft European Best Practice Guidelines, respectively. Duplicate results were available for 1250 lower alleles; discrepancies occurred in 40% of cases. Clinically significant discrepancies occurred in 4.0% of cases with a potential unexplained misdiagnosis rate of 0.3%. There was considerable variation in the discrepancy rate among 10 of the countries participating in this study. Out of 1326 samples, 348 were re-analysed by an accredited diagnostic laboratory, based in Germany, with concordance rates of 93% and 94% for the upper and lower alleles, respectively. This became 100% if the acceptable measurement errors were applied. The central laboratory correctly reported allele sizes for six standard reference samples, blind to the known result. Our study differs from external quality assessment (EQA) schemes in that these are duplicate results obtained from a large sample of patients across the whole diagnostic range. We strongly recommend that laboratories state an error rate for their measurement on the report, participate in EQA schemes and use reference materials regularly to adjust their own internal standards. [ABSTRACT FROM AUTHOR]

OBJECTIVES: After the withdrawal of some cyclooxygenase-2 (COX-2) selective inhibitors, traditional nonsteroidal anti-inflammatory drug (NSAID) use has increased, but without additional prevention strategies against upper gastrointestinal (GI) complications in many cases. Here, we report the effect of antisecretory drugs and nitrates on the risk of upper GI peptic ulcer bleeding (UGIB) associated with nonselective NSAIDs, aspirin, antiplatelet agents, and anticoagulants. METHODS: This case–control study matched 2,777 consecutive patients with UGIB (confirmed by endoscopy) with 5,532 controls (2:1). Adjusted relative risks (RR) of UGIB are reported. RESULTS: Proton pump inhibitors (PPIs) (RR 0.33, 95% confidence interval [CI] 0.27–0.39), H2-receptor antagonists (H2-RAs) (RR 0.65, 95% CI 0.50–0.85), and nitrates (RR 0.52, 95% CI 0.38–0.70) reduced UGIB risk. PPI use was associated with greater reductions among both traditional NSAID (RR 0.13, 95% CI 0.09–0.19 vs RR 0.30, 95% CI 0.17–0.53 with H2-RAs; RR 0.48, 95% CI 0.19–1.24 with nitrates) and low-dose aspirin users (RR 0.32, 95% CI 0.22–0.51 vs RR 0.40, 95% CI 0.19–0.73 with H2-RA; RR 0.69, 95% CI 0.36–1.04 with nitrates), and among patients taking clopidogrel (RR 0.19, 95% CI 0.07–0.49). For patients taking anticoagulants, use of nitrates, H2-RA, or PPIs was not associated with a significant effect on UGIB risk. CONCLUSION: Antisecretory agent or nitrate treatment is associated with reduced UGIB RR in patients taking NSAID or aspirin. Only PPI therapy was associated with a marked, consistent risk reduction among patients receiving all types of agents (including nonaspirin antiplatelet agents). Protection was not apparent in patients taking anticoagulants. [ABSTRACT FROM AUTHOR]

Huntington's disease is generally considered to be a late-onset neurodegenerative disorder, which follows a protracted course of deteriorating motor control and cognitive impairment. However, in a minority of cases, the onset of symptoms occurs early in life. A preponderance of the juvenile-one HD victims have inherited the genetic defect from their fathers. This variation in age of onset, based on the sex of the affected parent, has suggested that maternally inherited genes may influence expression of the disorder. We describe a portion of a large Venezuelan HD pedigree in which both the mother and father of three juvenile-onset HD patients share a common maternal lineage. Scanning of mtDNA from members of this family with 43 restriction endonucleases failed to reveal any differences in the mitochondrial genotype that could account for the difference in age of onset between the affected father and his progeny. Members of a related family with an affected father but no juvenile-onset progeny also appeared to share the same mitochondrial genotype. In addition, the mitochondrial gene products from lymphoblast cell lines of these family members were analyzed on polyacrylamide gels after incubation of cells with [S]methionine, but no detectable alterations were seen. Taken together, these data suggest that the maternally inherited mitochondrial genome does not play a crucial role in determining in age of onset in HD. [ABSTRACT FROM AUTHOR]

Purpose of Review: Pulmonary cytomegalovirus (CMV) infection is a potential lethal disease in children, but it remains a diagnostic challenge. The differentiation between latent CMV infections with viral shedding and active infections is difficult and may lead to false positives in bronchoalvolar lavage (BAL) PCR detection. This review summarizes current diagnostic approaches for CMV lung infection in children including progress in the identification of underlying immune defects linked to this condition. Recent Findings: There is increasing literature supporting that the combined assessment of host risk factors and lung disease pattern is essential for the diagnosis of pulmonary CMV infection in children. The most important host risk factor is an immunecompromised state that has expanded from primary or acquired immunodeficiency (e.g., HIV) to include a myriad of immune-dysregulation syndromes (e.g., CTLA4, PIK3 defects). Newborns, paricularly those born premature, are also a high-risk group. At the pulmonary level, active CMV infection is typically characterized by alveolar compromise leading to hypoxemia, ground-glass opacities, and intra-alveolar infiltrates with CMV inclusions in lung biopsy. The identification of active CMV lung infection should trigger additional evaluation of immune defects (primary or secondary) impairing T and NK cell function or innate antiviral responses as well as other immune dysregulation disorders. Summary: Lung CMV infections in children are more prevalent in immunocompromised hosts and premature newborns. Lung CMV infections should prompt further investigation into conditions altering immune mechanisms usually in place to contain CMV infections. Common clinical and radiological patterns such as hypoxemia and ground-glass pulmonary opacities may allow early identification and treatment of CMV lung infection and underlying causes in the pediatric population. [ABSTRACT FROM AUTHOR]