1,025 research outputs found
A case of thanatophoric dysplasia type I with an R248C mutation in the FGFR3 gene
Thanatophoric dysplasia (TD) is a short-limb neonatal dwarfism syndrome that is usually lethal in the perinatal period. It is characterized by shortening of the limbs, severely small thorax, large head with a prominent forehead, macrocephaly, curved femur, and flattened vertebral bodies. These malformations result from the mutation in fibroblast growth factor receptor 3 (FGFR-3) gene which is located on the short arm of chromosome 4. A definite diagnosis should be established by molecular genetic analysis to find out the abnormal mutations in the FGFR3 gene. We confirmed by detection of a R248C mutation in the FGFR3 gene in DNA analysis
Dendritic Spine Shape Analysis: A Clustering Perspective
Functional properties of neurons are strongly coupled with their morphology.
Changes in neuronal activity alter morphological characteristics of dendritic
spines. First step towards understanding the structure-function relationship is
to group spines into main spine classes reported in the literature. Shape
analysis of dendritic spines can help neuroscientists understand the underlying
relationships. Due to unavailability of reliable automated tools, this analysis
is currently performed manually which is a time-intensive and subjective task.
Several studies on spine shape classification have been reported in the
literature, however, there is an on-going debate on whether distinct spine
shape classes exist or whether spines should be modeled through a continuum of
shape variations. Another challenge is the subjectivity and bias that is
introduced due to the supervised nature of classification approaches. In this
paper, we aim to address these issues by presenting a clustering perspective.
In this context, clustering may serve both confirmation of known patterns and
discovery of new ones. We perform cluster analysis on two-photon microscopic
images of spines using morphological, shape, and appearance based features and
gain insights into the spine shape analysis problem. We use histogram of
oriented gradients (HOG), disjunctive normal shape models (DNSM), morphological
features, and intensity profile based features for cluster analysis. We use
x-means to perform cluster analysis that selects the number of clusters
automatically using the Bayesian information criterion (BIC). For all features,
this analysis produces 4 clusters and we observe the formation of at least one
cluster consisting of spines which are difficult to be assigned to a known
class. This observation supports the argument of intermediate shape types.Comment: Accepted for BioImageComputing workshop at ECCV 201
Jumping to the wrong conclusions? An investigation of the mechanisms of reasoning errors in delusions
Understanding how people with delusions arrive at false conclusions is central to the refinement of cognitive behavioural interventions. Making hasty decisions based on limited data ('jumping to conclusions', JTC) is one potential causal mechanism, but reasoning errors may also result from other processes. In this study, we investigated the correlates of reasoning errors under differing task conditions in 204 participants with schizophrenia spectrum psychosis who completed three probabilistic reasoning tasks. Psychotic symptoms, affect, and IQ were also evaluated. We found that hasty decision makers were more likely to draw false conclusions, but only 37% of their reasoning errors were consistent with the limited data they had gathered. The remainder directly contradicted all the presented evidence. Reasoning errors showed task-dependent associations with IQ affect, and psychotic symptoms. We conclude that limited data-gathering contributes to false conclusions but is not the only mechanism involved. Delusions may also be maintained by a tendency to disregard evidence. Low IQ and emotional biases may contribute to reasoning errors in more complex situations. Cognitive strategies to reduce reasoning errors should therefore extend beyond encouragement to gather more data, and incorporate interventions focused directly on these difficulties
A Case of Graves' Disease Combined with Hantaan Virus Infection
Graves' disease (GD) is generally presented by thyrotoxicosis with hyperthyroidism, and it is an organ-specific autoimmune disease induced by thyroid-stimulating hormone receptor autoantibodies. However, among diverse etiologies, viral infections have been suggested to trigger or to be involved in the pathogenesis of GD. Hantaan virus infection causing hemorrhagic fever with renal syndrome (HFRS) is common in South Korea and its pathogenesis is suggested to be an immunologic mechanism. We have experienced a patient who was diagnosed as HFRS with thyrotoxicosis. So we herein report the case as GD combined with the hantaan virus infection
Measuring reasoning in paranoia: development of the Fast and Slow Thinking questionnaire
Paranoid thoughts are common across the psychosis continuum. It is well established that reasoning biases (conceived as an overreliance on fast thinking and lack of willingness and/or ability to engage in slow thinking) contribute to paranoia. Targeted therapies have shown promise in improving reasoning in order to reduce paranoia. Psychometrically robust and easy-to-use measures of these thinking styles will assist research and clinical practice. Existing assessments include experimental tasks that are complex to administer or self-report measures that have limitations in comprehensively assessing cognitive biases in paranoia. We have developed the first questionnaire to assess fast and slow thinking biases related to paranoid thoughts, and here report on its evaluation. In study 1, we generated, evaluated, and extracted items reflecting reasoning, and assessed their reliability and validity in a non-clinical sample (n = 209). In study 2, we replicated the factor analysis and psychometric evaluation in a clinical sample (n = 265). The resultant Fast and Slow Thinking (FaST) questionnaire consists of two 5-item scales reflecting fast and slow thinking and is therefore brief and suitable for use in both research and clinical practice. The fast thinking scale is reliable and valid. Reliability and criterion validity of the slow scale shows promise. It had limited construct validity with objective reasoning assessments in the clinical group, possibly due to impaired meta-cognitive awareness of slow thinking. We recommend the FaST questionnaire as a new tool for improving understanding of reasoning biases in paranoia and supporting targeted psychological therapies
Neuropsychological functioning and jumping to conclusions in delusions
Background: It has been consistently demonstrated that delusions are related to jumping to conclusions (JTC), a
data-gathering bias and potential candidate endophenotype of psychosis. Recent research suggests that JTC may be a marker of treatment response. However, we know little about the factors contributing to the occurrence of this reasoning bias. This study investigated the relationship between JTC and hypothesised deficits in working memory, employing standard well-validated neuropsychological tests, in people with current delusions.
Method: One hundred and twenty six people with schizophrenia spectrum psychosis and current delusions were
assessed for current symptoms, and tested for JTC. We compared performance on tests of working memory in those with the reasoning bias and those without.
Results: As expected, 30–40% of this sample of people with current delusions showed the JTC bias. There were no
differences in premorbid IQ between those with and without the JTC reasoning bias. However, the performance of the JTC group was significantly worse on tests of working memory.
Conclusions: The JTC data-gathering bias is associated with impairments in working memory. New non-pharmacological
interventions for people with delusions, designed to improve data gathering, may benefit from incorporating strategies to overcome deficits in working memory
Isolation of laminin by affinity chromatography on immobilized Griffonia simplicifolia I lectin
Peer Reviewedhttp://deepblue.lib.umich.edu/bitstream/2027.42/23955/1/0000202.pd
“Excellence R Us”: university research and the fetishisation of excellence
The rhetoric of “excellence” is pervasive across the academy. It is used to refer to research outputs as well as researchers, theory and education, individuals and organisations, from art history to zoology. But does “excellence” actually mean anything? Does this pervasive narrative of “excellence” do any good? Drawing on a range of sources we interrogate “excellence” as a concept and find that it has no intrinsic meaning in academia. Rather it functions as a linguistic interchange mechanism. To investigate whether this linguistic function is useful we examine how the rhetoric of excellence combines with narratives of scarcity and competition to show that the hypercompetition that arises from the performance of “excellence” is completely at odds with the qualities of good research. We trace the roots of issues in reproducibility, fraud, and homophily to this rhetoric. But we also show that this rhetoric is an internal, and not primarily an external, imposition. We conclude by proposing an alternative rhetoric based on soundness and capacity-building. In the final analysis, it turns out that that “excellence” is not excellent. Used in its current unqualified form it is a pernicious and dangerous rhetoric that undermines the very foundations of good research and scholarship
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