Clin Chem Lab Med
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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.
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We evaluated the body fluid (BF) module on the new Sysmex XN-1000 for counting blood cells. ⋯ The BF module on the XN-1000 is a suitable tool for fast and accurate quantification of WBC (differential) and RBC counts in CSF and other BFs in a diagnostic setting.
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Acute kidney injury (AKI) is a common and serious condition, currently diagnosed by functional biomarkers, such as serum creatinine measurements. Unfortunately, creatinine increase is a delayed and unreliable indicator of AKI. The lack of early biomarkers of structural kidney injury has hampered our ability to translate promising experimental therapies to human AKI. ⋯ Furthermore, proper randomized clinical trials on renal and systemic outcomes comparing the use of NGAL vs. standard clinical practice are still lacking and accurate cost-benefit and/or cost-utility analyses for NGAL as biomarker of AKI are also needed. However, it is important to note that NGAL, in the absence of diagnostic increases in serum creatinine, is able to detect some patients affected by subclinical AKI who have an increased risk of adverse outcomes. These results also suggest that the concept and definition of AKI might need to be reassessed.
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With the increasing use of decision limits (action limits, cut-off points) specified for a number of analytical components in diagnosis and for action in critical situations, formulated in national or international recommendations, the traditional interpretation of reference intervals has been uncertain, and sometimes the two concepts are being mixed up by incorporating risk calculations in the reference intervals. There is, therefore, a need to clarify the two concepts and to keep them definitely separated. Reference intervals are the 95% limits for the descriptions of the distributions of the values of analytical components measured on reference samples from reference individuals. ⋯ The demands for negligible biases are, however, even more essential for decision limits, as the choice is no longer left to the clinician, but emerge directly from the concentration. Even a small bias will change the number of diseased individuals, so the demands for negligible biases are obvious. A view over the analytical quality as published gives a variable picture of bias for many components, but with many examples of considerable bias which must be critical--yet no specifications have been stipulated until now.