Access and allocation in earth system governance: Water and climate change compared

A significant percentage of the global population does not yet have access to safe drinking water, sufficient food or energy to live in dignity. There is a continuous struggle to allocate the earth's resources among users and uses. This article argues that distributional problems have two faces: access to basic resources or ecospace; and, the allocation of environmental resources, risks, burdens, and responsibilities for causing problems. Furthermore, addressing problems of access and allocation often requires access to social processes (science, movements and law). Analysts, however, have tended to take a narrow, disciplinary approach although an integrated conceptual approach may yield better answers. This article proposes a multi-disciplinary perspective to the problem of access and allocation and illustrates its application to water management and climate change. © The Author(s) 2010

Mutation in the human acetylcholinesterase-associated collagen gene, COLQ, is responsible for congenital myasthenic syndrome with end-plate acetylcholinesterase deficiency (Type Ic).

Congenital myasthenic syndrome (CMS) with end-plate acetylcholinesterase (AChE) deficiency is a rare autosomal recessive disease, recently classified as CMS type Ic (CMS-Ic). It is characterized by onset in childhood, generalized weakness increased by exertion, refractoriness to anticholinesterase drugs, and morphological abnormalities of the neuromuscular junctions (NMJs). The collagen-tailed form of AChE, which is normally concentrated at NMJs, is composed of catalytic tetramers associated with a specific collagen, COLQ. In CMS-Ic patients, these collagen-tailed forms are often absent. We studied a large family comprising 11 siblings, 6 of whom are affected by a mild form of CMS-Ic. The muscles of the patients contained collagen-tailed AChE. We first excluded the ACHE gene (7q22) as potential culprit, by linkage analysis; then we mapped COLQ to chromosome 3p24.2. By analyzing 3p24.2 markers located close to the gene, we found that the six affected patients were homozygous for an interval of 14 cM between D3S1597 and D3S2338. We determined the COLQ coding sequence and found that the patients present a homozygous missense mutation, Y431S, in the conserved C-terminal domain of COLQ. This mutation is thought to disturb the attachment of collagen-tailed AChE to the NMJ, thus constituting the first genetic defect causing CMS-Ic

Genetic polymorphisms in KCNQ1, HERG, KCNE1 and KCNE2 genes in the Chinese, Malay and Indian populations of Singapore

10.1111/j.1365-2125.2005.02545.xBritish Journal of Clinical Pharmacology613301-30

Diagnostic performance of QT interval variables from 24-h electrocardiography in the long QT syndrome

International audienceThe long QT syndrome is mainly defined by QT interval prolongation (QTc > 0.44s). However, data obtained in genotyped patients showed that resting QTc measurement alone may be inaccurate for ascertaining the phenotype. The aim of this study was to evaluate the diagnostic performance of QT interval rate-dependence in untreated chromosome 11-linked patients