1,458 research outputs found
Analysis of candidate genes at the IBGC1 locus associated with idiopathic basal ganglia calcification ("Fahr's disease")
No full textBasal ganglia calcification (striatopallidodentate calcifications) can be caused by several systemic and neurological disorders. Familial Idiopathic Basal Ganglia Calcification (IBGC, "Fahr's disease"), is characterized by basal ganglia and extrabasal ganglia calcifications, parkinsonism and neuropsychiatric symptoms. Because of an increased use of neuroimaging procedures, calcifications of the basal ganglia are visualized more often and precociously. In 1999, a major American family with IBGC was linked to a locus on chromosome 14q (IBGC1). Another small kindred, from Spain, has also been reported as possibly linked to this locus. Here we report the main findings of the first 30 candidate genes sequenced at the IBGC1 locus during the process of searching for a mutation responsible for familial IBGC. During the sequencing process, we identified a heterozygous nonsynonymous single nucleotide polymorphism (exon 20 of the MGEA6/c-TAGE gene) shared by the affected and not present in the controls. This SNP was randomly screened in the general population (348 chromosomes) in a minor allele frequency to 0.0058 (two heterozygous among 174 subjects). Another variation in this gene, in the exon 9, was found in the Spanish family. However, this variation was extremely common in the general population. Functional and population studies are necessary to fully access the implications of the MGEA6 gene in familial IBGC, and a complete sequencing of the IBGC1 locus will be necessary to define a gene responsible for familial IBGC
jDHBenelux Author Template
No full textThis repository contains the latest official GitHub hosted versions of the LaTeX template that authors are required to use when they finalize their contribtions to the DH Benelux Journal. The repository synchronises with the corresponding easy-to-use and well-documented Overleaf Template that provides authors with a low threshold environment for writing LaTeX – but can be used with any LaTeX compiler.
About this Release: Apart from some minor changes to the .cls, v2.0 introduces a number of new files to improve open source development with git and GitHub, including a README, a CC-BY 4.0 License, and a .gitignore file. It also prepares the repository for synchronisation with Zenodo, to improve sustainability.
Full Changelog: https://github.com/DHBenelux/jDHBenelux-author-template/compare/v1.1...v2.
An approach for testing gene dosage as a mechanism for cognitive dysfunction in Klinefelter's syndrome
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Elevated fetal steroidogenic activity in autism
No full textAutism affects males more than females, giving rise to the idea that the influence of steroid hormones on early fetal brain development may be one important early biological risk factor. Utilizing the Danish Historic Birth Cohort and Danish Psychiatric Central Register, we identified all amniotic fluid samples of males born between 1993 and 1999 who later received ICD-10 (International Classification of Diseases, 10th Revision) diagnoses of autism, Asperger syndrome or PDD-NOS (pervasive developmental disorder not otherwise specified) (n=128) compared with matched typically developing controls. Concentration levels of Δ4 sex steroids (progesterone, 17α-hydroxy-progesterone, androstenedione and testosterone) and cortisol were measured with liquid chromatography tandem mass spectrometry. All hormones were positively associated with each other and principal component analysis confirmed that one generalized latent steroidogenic factor was driving much of the variation in the data. The autism group showed elevations across all hormones on this latent generalized steroidogenic factor (Cohen’s d=0.37, P=0.0009) and this elevation was uniform across ICD-10 diagnostic label. These results provide the first direct evidence of elevated fetal steroidogenic activity in autism. Such elevations may be important as epigenetic fetal programming mechanisms and may interact with other important pathophysiological factors in autism
Towards the tumble resistant microlight
No full textThe tumble mode is a pitching departure from controlled flight which leads to a pitch autorotation that is generally unrecoverable – resulting in vertical ground impact, usually preceded by in-flight breakup (the mechanism for which, surprisingly, can sometimes prevent loss of life). This was identified in work led by the British Microlight Aircraft Association beginning in 1997 as a response to a number of fatal accidents in Rogallo winged microlight aeroplanes, although the tumble is also known to occur to hang-gliders. This paper explains how this class of aeroplane is controlled, and how it has been found that they can enter the tumble mode. The mechanism by which the tumble can be entered is described. This has led to work showing how flight testing can be used to establish and demonstrate resistance to tumble entry – particularly important with increasing number of very high performance flexwings. These flight tests will be explained, together with the significance of the results. Recent accident investigation work has also shown a new mechanism of tumble entry, through partial failure of the A-frame structure and the pitch-trimmer mechanism. Also described is a possible relevance to well known historical accidents to flying wing aeroplanes– specifically the YB-49 and dH-108, and discovered data on the characteristics of the BKB-1flying wing glider; are also described
Against the Grain: Reading for the Challenges of Collaborative DH Pedagogy
No full textThis article provides a critical review of the past five years of literature in digital humanities pedagogy and faculty-librarian collaboration, commingled with reflections on personal practice, which extend findings from the literature. Faculty-librarian partnerships in DH pedagogy reflect a rapidly evolving area of engagement calling for expertise in teaching, subject knowledge, scholarly communication, digital technologies, and DH research methodologies. Although there is a rapidly expanding body of literature on these partnerships, the challenges of the work tend to be minimized. This article expands upon commonly encountered difficulties, and it points to potential solutions and best practices.Peer reviewe
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Variation in the autism candidate gene GABRB3 modulates tactile sensitivity in typically developing children
No full textBackground: Autism spectrum conditions have a strong genetic component. Atypical sensory sensitivities are one of the core but neglected features of autism spectrum conditions. GABRB3 is a well-characterised candidate gene for autism spectrum conditions. In mice, heterozygous Gabrb3 deletion is associated with increased tactile sensitivity. However, no study has examined if tactile sensitivity is associated with GABRB3 genetic variation in humans. To test this, we conducted two pilot genetic association studies in the general population, analysing two phenotypic measures of tactile sensitivity (a parent-report and a behavioural measure) for association with 43 SNPs in GABRB3.
Findings: Across both tactile sensitivity measures, three SNPs (rs11636966, rs8023959 and rs2162241) were nominally associated with both phenotypes, providing a measure of internal validation. Parent-report scores were nominally associated with six SNPs (P <0.05). Behaviourally measured tactile sensitivity was nominally associated with 10 SNPs (three after Bonferroni correction).
Conclusions: This is the first human study to show an association between GABRB3 variation and tactile sensitivity. This provides support for the evidence from animal models implicating the role of GABRB3 variation in the atypical sensory sensitivity in autism spectrum conditions. Future research is underway to directly test this association in cases of autism spectrum conditions
DH Moments, Caribbean Considerations: On Reaction, Response, and Relevance in the Digital Humanities
No full textThis essay was written specifically for NYCDHWeek 2018, the theme of which was DH in the Moment: Reaction, Response, Relevance. The author examines how we define digital humanities activism and how we frame its histories. Relying primarily on examples from Caribbean-oriented digital work, the author argues for a broad definition of DH activism that allows for a variety of projects and intended audiences. In particular, the essay responds to the tendency to focus on "DH in the moment" (projects that can be done quickly and yield a high social impact) as the primary form of activism, arguing that alongside such projects we include as activist projects that have a more cumulative and less immediate effect. Recently, we have begun to ask not just what the digital humanities does, but what the digital humanities does for others. This essay considers why it is that this has become a key question in this DH moment
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DH Moments, Caribbean Considerations: On Reaction, Response, and Relevance in the Digital Humanities
No full textThis essay was written specifically for NYCDHWeek 2018, the theme of which was DH in the Moment: Reaction, Response, Relevance. The author examines how we define digital humanities activism and how we frame its histories. Relying primarily on examples from Caribbean-oriented digital work, the author argues for a broad definition of DH activism that allows for a variety of projects and intended audiences. In particular, the essay responds to the tendency to focus on "DH in the moment" (projects that can be done quickly and yield a high social impact) as the primary form of activism, arguing that alongside such projects we include as activist projects that have a more cumulative and less immediate effect. Recently, we have begun to ask not just what the digital humanities does, but what the digital humanities does for others. This essay considers why it is that this has become a key question in this DH moment
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