Posttraumatic stress disorder with secondary psychotic features. A diagnostic validity study among refugees in the Netherlands

Contains fulltext : 112928.pdf (publisher's version ) (Open Access)Radboud Universiteit Nijmegen, 18 september 2013Promotores : Kortmann, F.A.M., Brink, W. van den Co-promotor : Verkes, R.J

Over migratie en farmacotherapie

Item does not contain fulltextIn 2050 zal een derde van de Nederlandse bevolking bestaan uit wat het CBS allochtoon noemt. Al vanaf begin jaren vijftig van de vorige eeuw is bekend dat mensen van niet-westerse komaf anders kunnen reageren op westerse geneesmiddelen dan mensen uit het Westen. Toch is het zo dat de farmacotherapie die in de Nederlandse richtlijnen wordt aanbevolen, voornamelijk gebaseerd is op onderzoeksgegevens van westerse, blanke patiënten. In dit artikel wordt een aantal gevaren beschreven van farmacotherapie bij mensen van niet-westerse komaf.3 p

Phenytoin as a last-resort treatment in SCN8A encephalopathy.

Contains fulltext : 175085.pdf (publisher's version ) (Open Access

Epilepsy phenotype in individuals with chromosomal duplication encompassing FGF12

Contains fulltext : 220433.pdf (publisher's version ) (Open Access)Intragenic mutations in FGF12 are associated with intractable seizures, developmental regression, intellectual disability, ataxia, hypotonia, and feeding difficulties. FGF12 duplications are rarely reported, but it was suggested that those might have a similar gain-of-function effect and lead to a more or less comparable phenotype. A favorable response to the sodium blocker phenytoin was reported in several cases, both in patients with an intragenic mutation and in patients with a duplication of FGF12. We report three individuals from two families with FGF12 duplications. The duplications are flanked and probably mediated by two long interspersed nuclear elements (LINEs). The duplication cases show phenotypic overlap with the cases with intragenic mutations. Though the onset of epilepsy might be later, after the onset of seizures both groups show developmental stagnation and regression in several cases. This illustrates and further confirms that chromosomal FGF12 duplications and intragenic gain-of-function mutations yield overlapping phenotypes

Epilepsy phenotype in individuals with chromosomal duplication encompassing FGF12

Contains fulltext : 220433.pdf (publisher's version ) (Open Access)Intragenic mutations in FGF12 are associated with intractable seizures, developmental regression, intellectual disability, ataxia, hypotonia, and feeding difficulties. FGF12 duplications are rarely reported, but it was suggested that those might have a similar gain-of-function effect and lead to a more or less comparable phenotype. A favorable response to the sodium blocker phenytoin was reported in several cases, both in patients with an intragenic mutation and in patients with a duplication of FGF12. We report three individuals from two families with FGF12 duplications. The duplications are flanked and probably mediated by two long interspersed nuclear elements (LINEs). The duplication cases show phenotypic overlap with the cases with intragenic mutations. Though the onset of epilepsy might be later, after the onset of seizures both groups show developmental stagnation and regression in several cases. This illustrates and further confirms that chromosomal FGF12 duplications and intragenic gain-of-function mutations yield overlapping phenotypes

Diagnostic exome sequencing in 100 consecutive patients with both epilepsy and intellectual disability

Contains fulltext : 201030.pdf (publisher's version ) (Closed access

Abrupt environmental and climatic change during the deposition of the Early Permian Haushi limestone, Oman

During the late Sakmarian (Early Permian), the Haushi limestone was deposited in a shallow embayment of the Neotethys Ocean covering what is now north Oman and parts of southeast Saudi Arabia. The sea persisted through the late Sakmarian, but by the time of the deposition of the ?Artinskian Middle Gharif Member, limestone deposition had ceased and generally arid fluvial and minor lacustrine palaeonvironments in a low accommodation space setting had become established. Analysis of three subsurface cored boreholes and other surface sections of the Haushi limestone shows an upward change in microfacies from bryonoderm to molechfor associations reflecting the passage from heterozoan to photozoan communities. The biotic turnover indicates cooler climate and eutrophy in the lower parts of the unit and an upward trend towards warmer climate and more oligotrophic conditions in the upper part. Common autochthonous algal palynomorphs and high δ13Corg in the lower part suggest that high nutrient levels were due to greater fluvial runoff, while allochthonous pollen assemblages indicate that the climate of the hinterland became more arid through the deposition of the unit, causing upward increasing seawater trends in δ18Ocarb. Several extraneous factors are likely to have contributed to this palaeoenvironmental change, which was more abrupt than in other parts of post glacial Early Permian Gondwana. First, the Haushi sea, being an embayment partially isolated by Hawasina rift shoulder uplift, was more vulnerable to changes in rainfall and runoff than an open sea. Second, continued post glacial global warming and small northward movement of Gondwana may have contributed to temperature increase. Aridity may have been caused by the onset of monsoons and the influence of rift shoulders to the northeast and southeast