This study shows the need to perform an oral GTT at 60 days and at the end of the first year of renal transplantation to adequately diagnose impaired glucose metabolism.

Objectives Clinical laboratories store filter paper samples used in neonatal screening for various periods of time after performing hormonal measurements. However, due to lack of data concerning specimen stability, it is unclear for how long these samples should be stored. The objective of this study is to determine the stability and reproducibility of thyroid-stimulating hormone (TSH), thyroxine (T 4 ) and 17-hydroxyprogesterone (17-OHP) measurements in filter paper blood samples stored for up to 60 months. Methods Two hundred and twenty-eight blood samples, drawn between the second and the fourth day of life, were divided into seven distinct groups and kept at 4-88C for one day or 2, 12, 24, 36, 48 or 60 months after basal hormonal measurements. In each group, TSH, T 4 and 17-OHP levels were initially assayed 24-48 hours after collection (basal) and repeated once at the end of storage timing. All the measurements were performed by time-resolved fluorometry (1235 AutoDELFIA, Wallac Oy, Turku, Finland). Repeated and basal levels of each hormone were compared within the same group by Student's paired t-test. Differences were considered significant at P , 0.05. Results Compared with basal measurements, TSH and T 4 levels declined significantly only when these hormones were re-assayed at 48 or 60 months of sample storage. In contrast, 17-OHP concentrations decreased earlier, starting at 24 months and continuing throughout the remaining period. Conclusion Our data suggest that neonatal screening of filter paper samples kept at 4 -88C are reliable for repeating the hormonal measurements when specimens are stored for up to one year, in the case of 17-OHP, or three years, in the case of T 4 and TSH.

Background: Measurements of hormonal concentrations by immunoassays using fluorescent tracer substance (Eu3+) are susceptible to the action of chemical agents that may cause alterations in its original structure. Our goal was to verify the effect of two types of anticoagulants in the hormone assays performed by fluorometric (FIA) or immunofluorometric (IFMA) methods.

Samples of cerebrospinal fluid from 103 patients with aseptic meningitis were tested by PCR for detection of leptospires, and the results were compared with those of the microscopic agglutination test (MAT) and an enzyme-linked immunosorbent assay for detection of immunoglobulin M (ELISA-IgM). Of these samples, 39.80% were positive by PCR and 8.74 and 3.88% were positive by MAT and ELISA-IgM, respectively.

Activating mutations of the G protein genes have been associated with the development of several endocrine neoplasms. Such activating mutations, gip2, affecting the alpha-subunit of the G alpha i2 protein were previously described by a single group in 30% of ovarian sex cord stromal tumors. Other activating mutations of the alpha-subunit of the Gs (gsp) have been identified in GH-secreting and nonfunctioning pituitary tumors, autonomous thyroid adenomas, and all affected McCune-Albright tissues, but not in sex cord stromal tumors. In the present study, we investigated the presence of gip2 and gsp mutations in 14 human sex cord stromal tumors. Six Leydig cell tumors (4 ovaries and 2 testes), 2 thecomas, 2 granulosa cell tumors, 3 androblastomas, and 1 gonadoblastoma (sex cord and germ cell) were included in this study. Genomic DNA was obtained from either fresh-frozen tumor tissues or paraffin-embedded sections and in some cases from blood samples. Using PCR, denaturing gradient gel electrophoresis, and direct sequencing, we detected 4 tumors (66.6%) with the gsp mutation (R201C) in our series of ovarian and testicular Leydig cell tumors. In contrast, no gip2 mutations were found in any of the sex cord stromal tumors studied. In conclusion, our findings suggest that the putative oncogene gsp may play a significant role in the molecular mechanism of these tumors.

Familial acromegaly may occur as an isolated pituitary disorder or as a feature of hereditary syndromes, such as multiple endocrine neoplasia type 1 (MEN1) or the Carney complex. Herein, we characterized a newly identified kindred with isolated acromegaly and searched for germline mutation in genes that have been associated with endocrine tumors [i.e. MEN1, Gs alpha (GNAS1), and Gi2 alpha (GNAI2)], as well as the GHRH receptor (GHRH-R) gene. Genomic DNA was used to amplify exons 2-10 of MEN1, followed by dideoxy fingerprinting mutation analysis and direct sequencing. The GHRH-R gene was analyzed via direct sequencing of PCR-amplified fragments representing the coding exons and intron-exon junctions. To exclude mutation at hot spot areas of GNAS1 and GNAI2, exons 8 and 9 of GNAS1 and exons 5 and 6 of GNAI2 were amplified and screened for mutation via denaturing gradient gel electrophoresis. No mutations were detected in any of the four genes. The present data extend prior reports of the absence of mutation in MEN1, GHRH-R, and GNAS1 and describe the first family with isolated acromegaly in which germline mutation in GNAI2 has been searched.

Accurate measurement of serum cortisol is required to diagnose and treat adrenal disorders. The most widely used methods in clinical laboratories for serum cortisol measurement are immunoassays which are offered in numerous commercial kits and on automated platforms. The LC-MS/MS is the gold-standard method to quantify serum steroids due its highest specificity, however it is a laborious methodology. Objective: to compare serum cortisol levels measured by two immunoassays versus LC-MS/MS. Methods: 35 routine serum samples (range: 1.1 to 50.0 ug/dL) were measured by Access Cortisol in Unicel DxI800 (Beckman Coulter), Architect Cortisol in i2000 Architect (Abbott) and LC-MS/MS in Xevo-TQ-S (Waters). Results were compared by Deming regression analysis and mean bias were used to describe the relationship between LC-MS/MS and Access and Abbott immunoassays, respectively. Results: Beckman and Abbott immunoassays showed similar cortisol concentrations (mean bias: 0.366%). Both immunoassays showed close agreement with LC-MS/MS results. Deming regression analysis showed a slope of 0.99 (0.85 to 1.134) an intercept of 1.334 (-1.345 to 4.014) in LC-MS/MS vs Beckman comparison; a slope of 1.008 (0.906 to 1.110) an intercept of 1.164 (-0.766 to 3.094) in LC-MS/MS vs Abbott comparison. The mean positive bias of Beckman and Abbott versus LC-MS/MS were 8.38% e 8.78%, respectively. Conclusion: Both Beckman and Abbott Cortisol immunoassays presented similar results in comparison of cortisol LC-MS/MS measurement, which evidence that these assays are suitable and reasonable methods for routine serum cortisol determination.

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