8 research outputs found
If-then planning modulates the P300 in children with attention deficit hyperactivity disorder
Children with attention deficit disorder have difficulties with tasks that require response inhibition. We measured EEG data of nonmedicated childen with ADHS and control children in two conditions, a neutral condition and a condition that involved making if-then plans. If-then plans improved response inhibition and increased the P300 inchildren with ADHS compared with the neutral condition. The present results encourage the application of self-regulation using if-then plans in addition or as an alternative to common medical therapy
Axonal Neuropathy and Predominance of Type II Myofibers in Infantile Spinal Muscular Atrophy
Work-Life-Balance: Diskurse, Problemlagen, Forschungsperspektiven
Oechsle M. Work-Life-Balance: Diskurse, Problemlagen, Forschungsperspektiven. In: Becker R, Kortendiek B, eds. Handbuch Frauen- und Geschlechterforschung. Geschlecht und Gesellschaft. Vol 35. 2., erw. und aktualisierte. Wiesbaden: VS Verlag für Sozialwissenschaften; 2008: 227-236
Organisation und Unsicherheit aus Sicht der reflexiven Modernisierung: Politisierung, Individualisierung/Subjektivierung und subjektivierendes Arbeitshandeln
Up-Regulation of the ATP-Binding Cassette Transporter A1 Inhibits Hepatitis C Virus Infection
Clinical and Molecular Phenotype of Aicardi-Goutières Syndrome
Aicardi-Goutières syndrome (AGS) is a genetic encephalopathy whose clinical features mimic those of acquired in utero viral infection. AGS exhibits locus heterogeneity, with mutations identified in genes encoding the 3′→5′ exonuclease TREX1 and the three subunits of the RNASEH2 endonuclease complex. To define the molecular spectrum of AGS, we performed mutation screening in patients, from 127 pedigrees, with a clinical diagnosis of the disease. Biallelic mutations in TREX1, RNASEH2A, RNASEH2B, and RNASEH2C were observed in 31, 3, 47, and 18 families, respectively. In five families, we identified an RNASEH2A or RNASEH2B mutation on one allele only. In one child, the disease occurred because of a de novo heterozygous TREX1 mutation. In 22 families, no mutations were found. Null mutations were common in TREX1, although a specific missense mutation was observed frequently in patients from northern Europe. Almost all mutations in RNASEH2A, RNASEH2B, and RNASEH2C were missense. We identified an RNASEH2C founder mutation in 13 Pakistani families. We also collected clinical data from 123 mutation-positive patients. Two clinical presentations could be delineated: an early-onset neonatal form, highly reminiscent of congenital infection seen particularly with TREX1 mutations, and a later-onset presentation, sometimes occurring after several months of normal development and occasionally associated with remarkably preserved neurological function, most frequently due to RNASEH2B mutations. Mortality was correlated with genotype; 34.3% of patients with TREX1, RNASEH2A, and RNASEH2C mutations versus 8.0% RNASEH2B mutation–positive patients were known to have died (P=.001). Our analysis defines the phenotypic spectrum of AGS and suggests a coherent mutation-screening strategy in this heterogeneous disorder. Additionally, our data indicate that at least one further AGS-causing gene remains to be identified