Utrecht University

About: Utrecht University is a education organization based out in Utrecht, Utrecht, Netherlands. It is known for research contribution in the topics: Population & Poison control. The organization has 58176 authors who have published 139351 publications receiving 6214282 citations. The organization is also known as: UU & Universiteit Utrecht.

The relationship between specific RET proto-oncogene mutations and disease phenotype in multiple endocrine neoplasia type 2. International RET mutation consortium analysis.

Abstract: Objective. —Multiple endocrine neoplasia type 2 (MEN 2) is an autosomal dominant disorder. The 3 recognized subtypes include MEN 2A, characterized by medullary thyroid carcinoma (MTC), pheochromocytoma (pheo), and hyperparathyroidism (HPT); MEN 2B, by MTC, pheo, and characteristic stigmata; and familial MTC (FMTC), by the presence of MTC only. The purpose of this study was to establish the relationship between specific mutations and the presence of certain disease features in MEN 2 which could help in clinical decision making. Design. —Correlative survey study of 477 MEN 2 families. Setting. —Eighteen tertiary referral centers worldwide. Patients. —A total of 477 independent MEN 2 families. Main Outcome Measures. —Association between the position and type of germline mutation in the RET proto-oncogene and the presence or absence of MTC, pheo, HPT, and/or other features in a family. Results. —There is a statistically significant association between the presence of any mutation at a specific position (codon 634) and the presence of pheo and HPT. The presence of a specific mutation, CGC at codon 634, has yet to be associated with FMTC. Conversely, mutations at codons 768 and 804 are thus far seen only with FMTC, while codon 918 mutation is MEN 2B-specific. Rare families with both MEN 2 and Hirschsprung disease were found to have MEN 2-specific codon mutations. Patients with Hirschsprung disease presenting with such mutations should be monitored for the possible development of MEN 2 tumors. Conclusions. —This consortium analysis suggests that genotype-phenotype correlations do exist and, if made reliably absolute, could prove useful in the future in clinical management with respect to screening, surveillance, and prophylaxis, as well as provide insight into the genetic effects of particular mutations.

Harmonization of land-use scenarios for the period 1500–2100: 600 years of global gridded annual land-use transitions, wood harvest, and resulting secondary lands

Abstract: In preparation for the fifth Assessment Report (AR5) of the Intergovernmental Panel on Climate Change (IPCC), the international community is developing new advanced Earth System Models (ESMs) to assess the combined effects of human activities (e.g. land use and fossil fuel emissions) on the carbon-climate system. In addition, four Representative Concentration Pathway (RCP) scenarios of the future (2005–2100) are being provided by four Integrated Assessment Model (IAM) teams to be used as input to the ESMs for future carbon-climate projections (Moss et al. 2010). The diversity of approaches and requirements among IAMs and ESMs for tracking land-use change, along with the dependence of model projections on land-use history, presents a challenge for effectively passing data between these communities and for smoothly transitioning from the historical estimates to future projections. Here, a harmonized set of land-use scenarios are presented that smoothly connects historical reconstructions of land use with future projections, in the format required by ESMs. The land-use harmonization strategy estimates fractional land-use patterns and underlying land-use transitions annually for the time period 1500–2100 at 0.5° × 0.5° resolution. Inputs include new gridded historical maps of crop and pasture data from HYDE 3.1 for 1500–2005, updated estimates of historical national wood harvest and of shifting cultivation, and future information on crop, pasture, and wood harvest from the IAM implementations of the RCPs for the period 2005–2100. The computational method integrates these multiple data sources, while minimizing differences at the transition between the historical reconstruction ending conditions and IAM initial conditions, and working to preserve the future changes depicted by the IAMs at the grid cell level. This study for the first time harmonizes land-use history data together with future scenario information from multiple IAMs into a single consistent, spatially gridded, set of land-use change scenarios for studies of human impacts on the past, present, and future Earth system.