Behavioral phenotype in five individuals with de novo mutations within the GRIN2B gene

Background: Intellectual disability (ID) is often associated with behavioral problems or disorders. Mutations in the GRIN2B gene (MRD6, MIM613970) have been identified as a common cause of ID (prevalence of 0.5 – 1% in individuals with ID) associated with EEG and behavioral problems. Methods: We assessed five GRIN2B mutation carriers aged between 3 and 14 years clinically and via standardized questionnaires to delineate a detailed behavioral phenotype. Parents and teachers rated problem behavior of their affected children by completing the Developmental Behavior Checklist (DBC) and the Conners’ Rating Scales Revised (CRS-R:L). Results: All individuals had mild to severe ID and needed guidance in daily routine. They showed characteristic behavior problems with prominent hyperactivity, impulsivity, distractibility and a short attention span. Stereotypies, sleeping problems and a friendly but boundless social behavior were commonly reported. Conclusion: Our observations provide an initial delineation of the behavioral phenotype of GRIN2B mutation carriers

Linking early-life NMDAR hypofunction and oxidative stress in schizophrenia pathogenesis.

Molecular, genetic and pathological evidence suggests that deficits in GABAergic parvalbumin-positive interneurons contribute to schizophrenia pathophysiology through alterations in the brain's excitation-inhibition balance that result in impaired behaviour and cognition. Although the factors that trigger these deficits are diverse, there is increasing evidence that they converge on a common pathological hub that involves NMDA receptor hypofunction and oxidative stress. These factors have been separately linked to schizophrenia pathogenesis, but evidence now suggests that they are mechanistically interdependent and contribute to a common schizophrenia-associated pathology

Assessment tool for the hybridisation of minigrids - Case study in Niger

Minigrids are a great electrification strategy for developing countries. [1] Formerly operated only by diesel generators, they could be equipped with renewable energy and storage systems to become more reliable and competitive. Since resources are limited, it is not possible to hybridise all minigrids at the same time. An MS-EXCEL-based multi-criteria decision analysis (MCDA) tool offers a rational and impartial way of decision-making presenting the most eligible minigrids for a hybridisation. For the demonstration purposes, it is applied to the electricity sector of Niger

Design of a modern hot-blast cupola installation

Translated from German (Giesserei 1989 v. 76(10/11) p. 328-335)Available from British Library Document Supply Centre- DSC:9022.06(BISI-Trans--27400)T / BLDSC - British Library Document Supply CentreSIGLEGBUnited Kingdo

Design of a modern hot-blast cupola installation

Translated from German (Giesserei 1989 v. 76(10/11) p. 328-335)Available from British Library Document Supply Centre- DSC:9022.06(BISI-Trans--27400)T / BLDSC - British Library Document Supply CentreSIGLEGBUnited Kingdo