3 resultados para FRAGILE-X-SYNDROME

em Aston University Research Archive


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Biological soil crusts (BSCs) are formed by aggregates of soil particles and communities of microbial organisms and are common in all drylands. The role of BSCs on infiltration remains uncertain due to the lack of data on their role in affecting soil physical properties such as porosity and structure. Quantitative assessment of these properties is primarily hindered by the fragile nature of the crusts. Here we show how the use of a combination of non-destructive imaging X-ray microtomography (XMT) and Lattice Boltzmann method (LBM) enables quantification of key soil physical parameters and the modeling of water flow through BSCs samples from Kalahari Sands, Botswana. We quantify porosity and flow changes as a result of mechanical disturbance of such a fragile cyanobacteria-dominated crust. Results show significant variations in porosity between different types of crusts and how they affect the flow and that disturbance of a cyanobacteria-dominated crust results in the breakdown of larger pore spaces and reduces flow rates through the surface layer. We conclude that the XMT–LBM approach is well suited for study of fragile surface crust samples where physical and hydraulic properties cannot be easily quantified using conventional methods.

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Incontinentia Pigmenti (IP, OMIM#308300) is a rare X-linked genomic disorder (about 1,400 cases) that affects the neuroectodermal tissue and Central Nervous System (CNS). The objective of this study was to describe the cognitive-behavioural profile in children in order to plan a clinical intervention to improve their quality of life. A total of 14 girls (age range: from 1 year and 2 months to 12 years and 10 months) with IP and the IKBKG/NEMO gene deletion were submitted to a cognitive assessment including intelligence scales, language and visuo-spatial competence tests, learning ability tests, and a behavioural assessment. Five girls had severe to mild intellectual deficiencies and the remaining nine had a normal neurodevelopment. Four girls were of school age and two of these showed no intellectual disability, but had specific disabilities in calculation and arithmetic reasoning. This is the first description of the cognitive-behavioural profile in relation to developmental age. We stress the importance of an early assessment of learning abilities in individuals with IP without intellectual deficiencies to prevent the onset of any such deficit.

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Bilateral Perisylvian Syndrome (BPS) often presents with epilepsy and significant behavioral impairments that can include mental retardation, dysarthria, delayed speech development, and delayed fine motor development (Graff-Radford et al., 1986 and Kuzniecky et al., 1993). While a small subset of BPS cases have been described as having relatively isolated language delays (Leventer et al., 2010), BPS is not expected in children with dyslexia. As part of a Medical University of South Carolina, IRB approved multi-site study involving retrospective and de-identified dyslexia data, we unexpectedly identified a 14.05 year old male with evidence of BPS whose father had been diagnosed with dyslexia and dysgraphia. This child had been recruited for a neuroimaging study on dyslexia from a school specializing in educating children with dyslexia. The T1-weighted MRI scan from this child demonstrated a highly unusual perisylvian sulcal/gyral patterning that is a defining feature of BPS (Fig. 1). BPS cases exhibit bilateral dysgenesis of the Sylvian fissure and surrounding gyri, which appears to occur because of a limited or absent arcuate fasciculus (Kilinc, Ekinci, Demirkol, & Agan, 2015). This BPS case also had a relatively enlarged atrium of the lateral ventricle that is consistent with the BPS anatomical presentation and reduction of parietal white matter (Graff-Radford et al., 1986, Kilinc et al., 2015 and Toldo et al., 2011).