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101.
Lutz Wittmann Daniel Zehnder Michael Schredl Oskar G. Jenni Markus A. Landolt 《Journal of traumatic stress》2010,23(2):232-239
Posttraumatic nightmares are considered as a reexperiencing symptom of the DSM‐IV posttraumatic stress disorder (PTSD) diagnosis. Different types of posttraumatic nightmares, however, may differ in their relation to psychopathology. Thirty‐two children were longitudinally assessed 10 days, 2 months, and 6 months after traffic accidents. Occurrence and characteristics of nightmares were examined and their relation to psychopathology assessed. Thirty‐four percent of children reported posttraumatic nightmares during at least one assessment. Exact replicative nightmares at baseline assessment predicted PTSD symptoms 2 and 6 months postaccident, but not depressive symptoms. Exact replicative nightmares revealed the strongest cross‐sectional association with trauma‐specific psychopathology but not with depression. The authors conclude that posttraumatic nightmares—especially exact replicative ones—may be closely related to psychopathological mechanisms of posttraumatic stress in children. 相似文献
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104.
Siitonen HA Sotkasiira J Biervliet M Benmansour A Capri Y Cormier-Daire V Crandall B Hannula-Jouppi K Hennekam R Herzog D Keymolen K Lipsanen-Nyman M Miny P Plon SE Riedl S Sarkar A Vargas FR Verloes A Wang LL Kääriäinen H Kestilä M 《European journal of human genetics : EJHG》2009,17(2):151-158
Mutations in the RECQL4 gene can lead to three clinical phenotypes with overlapping features. All these syndromes, Rothmund-Thomson (RTS), RAPADILINO and Baller-Gerold (BGS), are characterized by growth retardation and radial defects, but RAPADILINO syndrome lacks the main dermal manifestation, poikiloderma that is a hallmark feature in both RTS and BGS. It has been previously shown that RTS patients with RECQL4 mutations are at increased risk of osteosarcoma, but the precise incidence of cancer in RAPADILINO and BGS has not been determined. Here, we report that RAPADILINO patients identified as carriers of the c.1390+2delT mutation (p.Ala420_Ala463del) are at increased risk to develop lymphoma or osteosarcoma (6 out of 15 patients). We also summarize all the published RECQL4 mutations and their associated cancer cases and provide an update of 14 novel RECQL4 mutations with accompanying clinical data. 相似文献
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106.
Verheyden G Nieuwboer A De Wit L Feys H Schuback B Baert I Jenni W Schupp W Thijs V De Weerdt W 《Journal of neurology, neurosurgery, and psychiatry》2007,78(7):694-698
Background and aim
Trunk performance is an important predictor of functional outcome after stroke. However, the percentage of explained variance varies considerably between studies. This may be explained by the stroke population examined, the different scales used to assess trunk performance and the time points used to measure outcome. The aim of this multicentre study was to examine the predictive validity of the Trunk Impairment Scale (TIS) and its subscales when predicting the Barthel Index score at 6 months after stroke.Methods
A total of 102 subjects were recruited in three European rehabilitation centres. Participants were assessed on admission (median time since stroke onset 20 days) and 6 months after stroke. Correlation analysis and forward stepwise multiple regression analysis were used to model outcome.Results
The best predictors of the Barthel Index scores at 6 months after stroke were total TIS score (partial R2 = 0.52, p<.0001) and static sitting balance subscale score (partial R2 = 0.50, p<.0001) on admission. The TIS score on admission and its static sitting balance subscale were stronger predictors of the Barthel Index score at 6 months than the Barthel Index score itself on admission.Conclusions
This study emphasises the importance of trunk performance, especially static sitting balance, when predicting functional outcome after stroke. The TIS is recommended as a prediction instrument in the rehabilitation setting when considering the prognosis of stroke patients. Future studies should address the evolution of trunk performance over time and the evaluation of treatment interventions to improve trunk performance.Although the age specific incidence of major stroke has fallen over the past few years,1 it is still the main cause of long term disability in adults, with a growing number of survivors being dependent for activities of daily living (ADL).2,3 Frequently identified variables predicting ADL after stroke are age and initial severity of motor and functional deficits.4 Trunk performance has also been identified as an important independent predictor of ADL after stroke.5,6,7,8,9 However, based on multiple regression analyses, the reported variance of functional outcome after stroke explained by trunk performance ranges from 9% to 71%.5,6,7,8,9 Differences in reported variance could be explained by the stroke population included, the various scales used to measure trunk performance and the time points used to measure outcome.Previous studies evaluating the predictive validity of trunk performance after stroke were performed in a single rehabilitation setting, warranting caution when generalising results.5,6,7,8,9,10 Clinical tools used to assess trunk performance are the Trunk Control Test,5,6,10 trunk control items of the Postural Assessment Scale for Stroke patients7,8 and trunk assessment of Fujiwara et al.9 A limitation of the first two tests is that they both have a ceiling effect, which makes their use less suitable in long term outcome studies.5,11,12,13 Furthermore, the trunk control items of the Trunk Control Test and Postural Assessment Scale for Stroke patients are largely comparable with the items of the trunk measure of Fujiwara et al.9 All previously mentioned clinical tools include items in the supine position which involve rolling as well as only basic balance movements in sitting. Finally, with the exception of the trunk control items of the Postural Assessment Scale for Stroke patients,8 no study has evaluated the prognostic value of trunk performance when predicting functional outcome at 6 months after stroke.The Trunk Impairment Scale (TIS) for patients after stroke was designed to measure ADL related selective trunk movements rather than participation of the trunk in gross transfer movements.14 The TIS assesses static and dynamic sitting balance and trunk coordination. Reliability, validity, measurement error, internal consistency and discriminant ability of the TIS have been reported elsewhere.14,15 The TIS has no ceiling effect in subacute and chronic stroke patients and already appeared to be strongly related to measures of gait, balance and functional ability in a cross sectional study.12 To the best of our knowledge, the predictive value of the TIS and its subscales has not been evaluated. Including age and other measures of motor and functional performance could provide a useful combination of variables predicting outcome after stroke. The Barthel Index score is a widely accepted measure in stroke rehabilitation research and assesses functional milestones in stroke recovery. Predicting Barthel Index scores at 6 months after stroke based on measurements taken on admission to a rehabilitation centre would further establish the importance of trunk performance when predicting long term outcome after stroke. Experts in the field of neurological rehabilitation have addressed the trunk as the central key point of the body.16 Proximal stability of the trunk is a prerequisite for distal head and limb movement and therefore expected to be related to functional ADL.In summary, there is still a lack of clarity regarding the importance of trunk performance in functional outcome after stroke. Scales which have been used in previous studies have important statistical limitations and are likely to be a comprehensive measure of motor performance of the trunk. Therefore, the aim of this multicentre study was to examine the predictive validity of the TIS and its subcomponents, together with other known predictors, in predicting functional outcome measured as a Barthel Index score at 6 months after stroke. 相似文献107.
108.
Fennema-Notestine C Gamst AC Quinn BT Pacheco J Jernigan TL Thal L Buckner R Killiany R Blacker D Dale AM Fischl B Dickerson B Gollub RL 《Neuroinformatics》2007,5(4):235-245
The application of advances in biomedical computing to medical imaging research is enabling scientists to conduct quantitative
clinical imaging studies using data collected across multiple sites to test new hypotheses on larger cohorts, increasing the
power to detect subtle effects. Given that many research groups have valuable existing (legacy) data, one goal of the Morphometry
Biomedical Informatics Research Network (BIRN) Testbed is to assess the feasibility of pooled analyses of legacy structural
neuroimaging data in normal aging and Alzheimer’s disease. The present study examined whether such data could be meaningfully
reanalyzed as a larger combined data set by using rigorous data curation, image analysis, and statistical modeling methods;
in this case, to test the hypothesis that hippocampal volume decreases with age and to investigate findings of hippocampal
asymmetry. This report describes our work with legacy T1-weighted magnetic resonance (MR) and demographic data related to
normal aging that have been shared through the BIRN by three research sites. Results suggest that, in the present application,
legacy MR data from multiple sites can be pooled to investigate questions of scientific interest. In particular, statistical
analyses suggested that a mixed-effects model employing site as a random effect best fits the data, accounting for site-specific
effects while taking advantage of expected comparability of age-related effects. In the combined sample from three sites,
significant age-related decline of hippocampal volume and right-dominant hippocampal asymmetry were detected in healthy elderly
controls. These expected findings support the feasibility of combining legacy data to investigate novel scientific questions.
Brad Dickerson and Randy L. Gollub contributed equally. 相似文献
109.
Hauke Schmidt Jenni Raasch Doron Merkler Florian Klinker Sandra Krauss Wolfgang Brück Marco Prinz 《Experimental neurology》2009,216(2):306-311
The type I interferons, interferon-beta and alpha (IFN-β, IFN-α), are widely used for the treatment of autoimmune demyelination in the central nervous system (CNS). Their effects on de- and remyelination through the broadly expressed type I IFN receptor (IFNAR), however, are highly speculative. In order to elucidate the role of endogenous type I interferons for myelin damage and recovery we induced toxic demyelination in the absence of IFNAR1. We demonstrate that IFNAR signalling was induced during acute demyelination since the cytokine IFN-β as well as the IFN-dependent genes IRF7, ISG15 and UBP43 were strongly upregulated. Myelin damage, astrocytic and microglia response, however, were not significantly reduced in the absence of IFNAR1. Furthermore, motor skills of IFNAR1-deficient animals during non-immune demyelination were unaltered. Finally, myelin recovery was found to be independent from endogenous IFNAR signalling, indicating a redundant role of this receptor for non-inflammatory myelin damage and repair. 相似文献
110.
Jenni E. Keskitalo Kaisa J. Kurkinen Mikko Neuvonen Janne T. Backman Pertti J. Neuvonen & Mikko Niemi 《British journal of clinical pharmacology》2009,68(2):207-213