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Chur, Switzerland

Risch M.,Zentrallabor | Meier D.W.,Labormedizinisches Zentrum Dr. Risch | Sakem B.,Labormedizinisches Zentrum Dr. Risch | Medina Escobar P.,Labormedizinisches Zentrum Dr. Risch | And 3 more authors.
BMC Geriatrics | Year: 2015

Background: The vitamin B12 and folate status in nonanaemic healthy older persons needs attention the more so as decrease in levels may be anticipated from reduced haematinic provision and/or impaired intestinal uptake. Methods: A total of 1143 subjectively healthy Swiss midlands participants (637 females and 506 males), ≥60 years of age were included in this study. Levels of vitamin B12, holotranscobalamin (holoTC), methylmalonic acid (MMA), homocysteine (Hcy), serum folate, red blood cell (RBC) folate were measured. Further, Fedosov's wellness score was determined. Associations of age, gender, and cystatin C/creatinine-based estimated kidney function, with the investigated parameters were assessed. Reference intervals were calculated. Further, ROC analysis was done to assess accuracy of the individual parameters in recognizing a deficient vitamin B12 status. Finally, decision limits for sensitive, specific and optimal recognition of vitamin B12 status with individual parameters were derived. Results: Three age groups: 60-69, 70-79 and ≥ 80 had median B12 (pmol/L) levels of 237, 228 and 231 respectively (p = 0.22), holoTC (pmol/L) of 52, 546 and 52 (p = 0.60) but Hcy (μmol/L) 12, 15 and 16 (p < 0.001), MMA (nmol/L) 207, 221 and 244 (p < 0.001). Hcy and MMA (both p < 0.001), but not holoTC (p = 0.12) and vitamin B12 (p = 0.44) were found to be affected by kidney function. In a linear regression model Fedosov's wellness score was independently associated with kidney function (p < 0.001) but not with age. Total serum folate and red blood cell (RBC) folate drift apart with increasing age: whereas the former decreases (p = 0.01) RBC folate remains in the same bandwidth across all age groups (p = 0.12) A common reference interval combining age and gender strata can be obtained for vitamin B12 and holoTC, whereas a more differentiated approach seems warranted for serum folate and RBC folate. Conclusion: Whereas the vitamin B12 and holoTC levels remain steady after 60 years of age, we observed a significant increment in MMA levels accompanied by increments in Hcy; this is better explained by age-related reduced kidney function than by vitamin B12 insufficiency. Total serum folate levels but not RBC folate levels decreased with progressing age. © 2015 Risch et al.

Rohrbach J.M.,University of Tubingen | Harbeck M.,Bayerische Staatssammlung fur Anthropologie und Palaoanatomie | Holzhauser P.,Fachburo fur Angewandte Geologie | Tekeva-Rohrbach C.I.,University of Tubingen | And 2 more authors.
Klinische Monatsblatter fur Augenheilkunde | Year: 2012

During an excavation in Regensburg/Germany the skeleton of an approximately 20-year-old Roman man was found who was buried in the 3rd/4th century after Christ. A "stoneo" was found which fitted into the left orbit precisely. After a thorough investigation of the "stoneo" and with the ophthalmohistorical literature in mind an orbital "implanto" as well as a petrified medical paste ("Kollyriumo") could be ruled out almost with certainty. Possibly the "stoneo" served another medical purpose or was used for protection of the eye. © Georg Thieme Verlag KG Stuttgart · New York.

Endler G.,Medical University of Vienna | Slavka G.,Zentrallabor | Perkmann T.,Medical University of Vienna | Haushofer A.,Institute For Laboratoriumsmedizin
Hamostaseologie | Year: 2010

Due to their complex preanalytics coagulation tests show a higher rate of rejected samples due to insufficient quality and a higher intra- and inter-individual test variability. In the last years several guidelines addressed this issue in an effort to standardize preanalytic procedures. However, in daily laboratory work, these guidelines frequently cannot be fully executed, due to technical limitations or sample transport logistics. In this manuscript several important issues in sample collection, handling and transportation will be discussed. Since the stability and variability of routine coagulation tests such as prothrombin time and partial prothrombin time are significantly influenced by a number of variables such as tube type, manufacturer, reagents used and analyzer systems, it is recommended that each laboratory develops its own manuals for sample collection, based on published data and internal evaluations. © Schattauer 2010.

Bishop D.F.,Mount Sinai School of Medicine | Xiaoye S.-Y.,Zentrallabor | Clavero S.,Mount Sinai School of Medicine | Yoo H.-W.,University of Ulsan | And 2 more authors.
Blood | Year: 2010

Splicing mutations account for approximately 10% of lesions causing genetic diseases, but few branchpoint sequence (BPS) lesions have been reported. In 3 families with autosomal recessive congenital erythropoietic porphyria (CEP) resulting from uroporphyrinogen III synthase (URO-synthase) deficiency, sequencing the promoter, all 10 exons and the intron/exon boundaries did not detect a mutation. Northern analyses of lymphoblast mRNAs from 2 patients and reverse-transcribed polymerase chain reaction (RT-PCR) of lymphoblast mRNAs from all 3 patients revealed multiple longer transcripts involving intron 9 and low levels of wild-type message. Sequencing intron 9 RT-PCR products and genomic DNA in each case revealed homozygosity for a novel BPS mutation (c.661-31T→G) and alternatively spliced transcripts containing 81, 246, 358, and 523 nucleotides from intron 9. RT-PCR revealed aberrant transcripts in both wild-type and CEP lymphoblasts, whereas BPS mutation reduced the wild-type transcript and enzyme activity in CEP lymphoblasts to approximately 10% and 15% of normal, respectively. Although the +81-nucleotide alternative transcript was in-frame, it only contributed approximately 0.2% of the lymphoblast URO-synthase activity. Thus, the BPS mutation markedly reduced the wildtype transcript and enzyme activity, thereby causing the disease. This is the first BPS mutation in the last intron, presumably accounting for the observed 100% intron retention without exon skipping. © 2010 by The American Society of Hematology.

Pichler I.,European Academy Bozen Bolzano EURAC | Pichler I.,University of Lubeck | Minelli C.,European Academy Bozen Bolzano EURAC | Minelli C.,University of Lubeck | And 40 more authors.
Human Molecular Genetics | Year: 2011

The genetic determinants of variation in iron status are actively sought, but remain incompletely understood. Meta-analysis of two genome-wide association (GWA) studies and replication in three independent cohorts was performed to identify genetic loci associated in the general population with serum levels of iron and markers of iron status, including transferrin, ferritin, soluble transferrin receptor (sTfR) and sTfR-ferritin index. We identified and replicated a novel association of a common variant in the type-2 transferrin receptor (TFR2) gene with iron levels, with effect sizes highly consistent across samples. In addition, we identified and replicated an association between the HFE locus and ferritin and confirmed previously reported associations with the TF, TMPRSS6 and HFE genes. The five replicated variants were tested for association with expression levels of the corresponding genes in a publicly available data set of human liver samples, and nominally statistically significant expression differences by genotype were observed for all genes, although only rs3811647 in the TF gene survived the Bonferroni correction for multiple testing. In addition, we measured for the first time the effects of the common variant in TMPRSS6, rs4820268, on hepcidin mRNA in peripheral blood (n = 83 individuals) and on hepcidin levels in urine (n = 529) and observed an association in the same direction, though only borderline significant. These functional findings require confirmation in further studies with larger sample sizes, but they suggest that common variants in TMPRSS6 could modify the hepcidin-iron feedback loop in clinically unaffected individuals, thus making them more susceptible to imbalances of iron homeostasis. © The Author 2010. Published by Oxford University Press. All rights reserved.

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