Clin Chem Lab Med
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Repeated arterial puncture is painful. A mathematical method exists for transforming peripheral venous pH, PCO 2 and PO 2 to arterial eliminating the need for arterial sampling. This study evaluates this method to monitor acid base and oxygenation during admission for exacerbation of chronic obstructive pulmonary disease (COPD). ⋯ This study shows that arterial pH, PCO 2 and PO 2 can be calculated from peripheral venous values so as to characterise changes seen during exacerbation. Application of the method has potential to reduce arterial sampling, decrease discomfort and enable venous sampling as routine practice.
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An estimated 5 % – 10 % of all breast cancers are due to an inherited predisposition and, out of these, about 30 % are caused by germline mutations of the BRCA1 and BRCA2 genes. The prevalence of germline mutations in theBRCA1 and BRCA2 genes varies among ethnic groups. The aims of this study are to evaluate deleterious mutations and genomic rearrangements in BRCA1/2 genes and the CHEK21100delC mutation in a cohort of Italian women affected with hereditary breast and/or ovarian cancer. In addition we clarify the effect of the novel variants identified in BRCA2 gene bymRNA analysis and prediction software. ⋯ In silico analysis conducted for S1341, IVS1-59t > c, IVS11-74insA and IVS12 + 74c > g of BRCA2 predicted the variants as neutral and benign, whereas the results for I1167V was inconclusive. mRNA analysis for the novel BRCA2 intronic variant IVS11-74insA and the already published BRCA1 variant C197 shows that they have no effect on the splicing. These results are in agreement with in silico analysis.