Constitutional 11p15 abnormalities, including heritable imprinting center mutations, cause nonsyndromic Wilms tumor

Constitutional abnormalities at the imprinted 11p15 growth regulatory region cause syndromes characterized by disordered growth, some of which include a risk of Wilms tumor. We explored their possible contribution to nonsyndromic Wilms tumor and identified constitutional 11p15 abnormalities in genomic lymphocyte DNA from 13 of 437 individuals (3%) with sporadic Wilms tumor without features of growth disorders, including 12% of bilateral cases (P = 0.001) and in one familial Wilms tumor pedigree. No abnormality was detected in 220 controls (P = 0.006). Abnormalities identified included H19 DMR epimutations, uniparental disomy 11p15 and H19 DMR imprinting center mutations (one microinsertion and one microdeletion), thus identifying microinsertion as a new class of imprinting center mutation. Our data identify constitutional 11p15 defects as one of the most common known causes of Wilms tumor, provide mechanistic insights into imprinting disruption and reveal clinically important epigenotype-phenotype associations. The impact on clinical management dictates that constitutional 11p15 analysis should be considered in all individuals with Wilms tumor.     

Do taste receptors respond to perturbation of water structure?

The pmr spin-spin pulse relaxation times (T₂ values) of the L-amino acids are examined in relation to their taste threshold values. There is an inverse trend between T₂ value and threshold value with a good correlation for amino acids whose natural pH is close to neutrality. These results may indicate that taste receptors respond to perturbation of water structure.     

Role of the anomeric centre in sugar sweetness

Intensity-time studies of the sweetness of D-glucose solutions show that there are no major differences between alpha- and beta-anomers. Nor do the alpha- and beta-anomers exhibit any differences in apparent molar volumes. Contrary to previous reports, the anomeric centre of D-fructose may play no direct role in the sweetness response.     

Computer-Aided Detection System on Tangled Roller

Introduction Intheposttreatmentofchoppedfibreproduction,the thirddraftingrollerandtensionheat settingrolleroftenwere tangledbybrokentowforthereasonofhighspeed,hightemperatureofrollersurface,orotheradditionalforeign factors.While,thetworollerswerekeysegmentinthewhole technology.Itwouldleadtooneormoredrumcavedin,and eventobediscardediftheequipmenthadnotbeenstoppedintime.Usually,suchaccidentwouldbringgreatloss,what wouldnotbegotback.Sothetotalsetofequipmentrequiredthatdetectormusthavegoodperfo…     

User Driven Innovation in the Building Process

During the late years there has been an ever-increasing focus on the possibilities to change the building process to raise quality on the final building products as well as the activities of actors involved in the building process. One reason for this interest is the new opportunities evolving due to introduction of advanced information and communication technology (ICT). The paper focuses on creative changes of the building process powered by user driven innovation activities. An overview of existing user driven innovation methodologies is given as well experiences from the ongoing Virtual Innovation in Construction (VIC) project. One important driving force for change is the opportunity for users to develop and articulate real needs concerning for example different functionalities of a building and its parts, but also on artifacts supporting the actual needs capture and requirements formulation during building design. A general methodological framework and meta ontology for Virtual Innovation in Construction is presented as well as findings from implementation of the method.     

Mutations in NYX, encoding the leucine-rich proteoglycan nyctalopin, cause X-linked complete congenital stationary night blindness

During development, visual photoreceptors, bipolar cells and other neurons establish connections within the retina enabling the eye to process visual images over approximately 7 log units of illumination. Within the retina, cells that respond to light increment and light decrement are separated into ON- and OFF-pathways. Hereditary diseases are known to disturb these retinal pathways, causing either progressive degeneration or stationary deficits. Congenital stationary night blindness (CSNB) is a group of stable retinal disorders that are characterized by abnormal night vision. Genetic subtypes of CSNB have been defined and different disease actions have been postulated. The molecular bases have been elucidated in several subtypes, providing a better understanding of the disease mechanisms and developmental retinal neurobiology. Here we have studied 22 families with 'complete' X-linked CSNB (CSNB1; MIM 310500; ref. 4) in which affected males have night blindness, some photopic vision loss and a defect of the ON-pathway. We have found 14 different mutations, including 1 founder mutation in 7 families from the United States, in a novel candidate gene, NYX. NYX, which encodes a glycosylphosphatidyl (GPI)-anchored protein called nyctalopin, is a new and unique member of the small leucine-rich proteoglycan (SLRP) family. The role of other SLRP proteins suggests that mutant nyctalopin disrupts developing retinal interconnections involving the ON-bipolar cells, leading to the visual losses seen in patients with complete CSNB.     

计算机辅助鉴定技术在海洋浮游植物分类鉴定中的应用

本文对计算机辅助鉴定技术在海洋浮游植物分类鉴定中的应用进行了探讨,总结了不同技术的特点,并在总结计算机辅助鉴定技术在海洋浮游植物分类鉴定方面应用现状的基础上,对其发展前景做出了展望。