Search results for "ops"
showing 10 items of 5435 documents
Oculopharyngeal muscular dystrophy in a northern German family linked to chromosome 14q, and presenting carnitine deficiency
1997
We report the evaluation of oculopharyngeal muscular dystrophy (OPMD) in a large northern German family, which can be traced back six generations and is unrelated to French-Canadian families. The symptoms in this family start at about 50 years of age and include dysphagia, bilateral ptosis, and in some cases a slowly progressive atrophy and weakness of other extraocular, facial or limb girdle muscles. The muscle biopsies showed the pathognomonic ultrastructural finding of characteristic intranuclear filaments. Linkage analysis confirmed that this family is also linked to chromosome 14q markers. Haplotype analysis revealed that a unique haplotype segregates with the disease which is differen…
The emergence and adaptive use of prestige in an online social learning task
2020
AbstractPrestige-biased social learning occurs when individuals preferentially learn from others who are highly respected, admired, copied, or attended to in their group. This form of social learning is argued to reflect novel forms of social hierarchy in human societies, and, by providing an efficient short-cut to acquiring adaptive information, underpin the cumulative cultural evolution that has contributed to our species’ ecological success. Despite these potentially important consequences, little empirical work to date has tested the basic predictions of prestige-biased social learning. Here we provide evidence supporting the key predictions that prestige-biased social learning is used …
Evidence that autophagy, but not the unfolded protein response, regulates the expression of IL-23 in the gut of patients with ankylosing spondylitis …
2013
OBJECTIVES: Interleukin (IL)-23 has been implicated in the pathogenesis of ankylosing spondylitis (AS). The aim of the study was to clarify the mechanisms underlying the increased IL-23 expression in the gut of AS patients. METHODS: Consecutive gut biopsies from 30 HLA-B27(+) AS patients, 15 Crohn's disease (CD) patients and 10 normal subjects were obtained. Evidence for HLA-B27 misfolding was studied. Unfolded protein response (UPR) and autophagy were assessed by RT-PCR and immunohistochemistry. The contribution of UPR and autophagy in the regulation of IL-23 expression was evaluated in in vitro experiments on isolated lamina propria mononuclear cells (LPMCs). RESULTS: Intracellular coloca…
Fine-Needle Aspiration (FNAB) Molecular Analysis for the Diagnosis of Papillary Thyroid Carcinoma through BRAFv600E mutation and RET/PTC rearrangement
2007
Objective: To evaluate BRAFV600E mutation on consecutive fine-needle aspiration biopsy (FNAB) specimens in order to assess FNAB’s usefulness in preoperative papillary thyroid carcinoma (PTC) diagnosis with the contemporaneous analysis of RET=PTC1 and RET=PTC3 rearrangements obtained from ex vivo thyroid nodules. Design: Thyroid FNABs from 156 subjects with nodules and 49 corresponding surgical samples were examined for the presence of BRAF mutation by real-time allele-specific polymerase chain reaction, confirmed with the use of a laser pressure catapulting system. Samples were also examined for RET=PTC rearrangements. The results were compared with the cytological diagnosis and histopathol…
Erythema nodosum-like lesions during BRAF inhibitor therapy: Report on 16 new cases and review of the literature.
2015
Importance BRAF inhibitors have been licensed for the therapy of BRAF-mutated melanoma. Recently, inflammatory skin lesions clinically resembling erythema nodosum have been reported as therapy side-effects that may lead to treatment discontinuation. Objective To identify and characterize cases with BRAF inhibitor-associated erythema nodosum-like inflammatory skin lesions and development of an algorithm for their management. Design and Setting Retrospective chart review of melanoma patients treated with BRAF inhibitors in 14 departments of Dermatology in Germany and Austria and PubMed search for cases in the literature. Results Sixteen patients were identified who developed erythema nodosum-…
Strength of memory encoding affects physiological responses in the Guilty Actions Test
2009
The Guilty Actions Test (GAT) is a valid and scientifically sound technique of forensic psychophysiology that allows for the detection of concealed memories. However, its application has been challenged because the results might be affected by the culprit's forgetting of crime details as well as the leakage of information to innocents. In the current study, these aspects were examined by varying the amount of time between a mock crime and the subsequent GAT, as well as by contrasting culprits with informed innocents. It turned out that culprits specifically forgot peripheral crime details during a period of 2 weeks whereas informed innocents showed similar forgetting for all details. As a c…
Effectiveness of the Cognitive Differentiation Program of the Integrated Psychological Therapy
2011
The aim of the current pilot study was to compare two strategies in the application of the cognitive differentiation program of Integrated Psychological Therapy for people with schizophrenia. Twenty-six outpatients were randomly assigned to the application of the program in group sessions (CDg), or to its application in individualized sessions (CDi). The program provides cognitive exercises to promote better performance in cognition, and both groups of participants completed the same number of exercises following the same number of sessions per week. Outcomes were assessed on neuropsychological measures of attention, executive functioning and everyday memory, and everyday functioning. Effec…
Development of a new measure for assessing insight: Psychometric properties of the insight orientation scale (IOS)
2015
Abstract Introduction Given the centrality of insight in promoting change, the relevance of measures for assessing this construct has become increasingly clear. This paper describes a new self-report measure for assessing some of the characteristics of insight, the insight orientation scale (IOS). Aims In study 1, we evaluated the factor structure and the reliability of the scale. In study 2, we analyzed the concurrent and discriminant validity of the scale in patients with different clinical diagnoses. Methods In study 1 participants were 600 individuals (41.1% male, 58.9% female) with a mean age of 33.95 years (SD = 13.04). In study 2 participants were 136 individuals divided into the fol…
Predictors of neurocognitive impairment at 3years after a first episode non-affective psychosis
2013
Abstract Background Neurocognitive impairment is a core component of schizophrenia. However, patients show great variability in the level and course of deficits. The goal of the present longitudinal study was to identify predictors of neurocognitive impairment in first episode psychosis patients. Methods N eurocognitive performance was analyzed in a cohort of 146 patients 3 years after a first episode non-affective psychosis. Subgroups, impaired vs. unimpaired, were compared on baseline clinical, neuropsychological, premorbid and sociodemographic characteristics. Results Fifty-nine percent of participants presented general neurocognitive impairment and regression analyses demonstrated that …
Variations in genes regulating neuronal migration predict reduced prefrontal cognition in schizophrenia and bipolar subjects from mediterranean Spain…
2005
Both neural development and prefrontal cortex function are known to be abnormal in schizophrenia and bipolar disorder. In order to test the hypothesis that these features may be related with genes that regulate neuronal migration, we analyzed two genomic regions: the lissencephaly critical region (chromosome 17p) encompassing the LIS1 gene and which is involved in human lissencephaly; and the genes related to the platelet-activating-factor, functionally related to LIS1, in 52 schizophrenic patients, 36 bipolar I patients and 65 normal control subjects. In addition, all patients and the 25 control subjects completed a neuropsychological battery. Thirteen (14.8%) patients showed genetic varia…