113 research outputs found

    Identification of QTLs for Arsenic Accumulation in Maize (Zea mays L.) Using a RIL Population

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    The Arsenic (As) concentration in different tissues of maize was analyzed using a set of RIL populations derived from an elite hybrid, Nongda108. The results showed that the trend of As concentration in the four measured tissues was leaves>stems>bracts>kernels. Eleven QTLs for As concentration were detected in the four tissues. Three QTLs for As concentration in leaves were mapped on chromosomes 1, 5, and 8, respectively. For As concentration in the bracts, two QTLs were identified, with 9.61% and 10.03% phenotypic variance. For As concentration in the stems, three QTLs were detected with 8.24%, 14.86%, and 15.23% phenotypic variance. Three QTLs were identified for kernels on chromosomes 3, 5, and 7, respectively, with 10.73%, 8.52%, and 9.10% phenotypic variance. Only one common chromosomal region between SSR marker bnlg1811 and umc1243 was detected for QTLs qLAV1 and qSAC1. The results implied that the As accumulation in different tissues in maize was controlled by different molecular mechanism. The study demonstrated that maize could be a useful plant for phytoremediation of As-contaminated paddy soil, and the QTLs will be useful for selecting inbred lines and hybrids with low As concentration in their kernels

    Recessive mutations in SPTBN2 implicate β-III spectrin in both cognitive and motor development

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    β-III spectrin is present in the brain and is known to be important in the function of the cerebellum. Heterozygous mutations in SPTBN2, the gene encoding β-III spectrin, cause Spinocerebellar Ataxia Type 5 (SCA5), an adult-onset, slowly progressive, autosomal-dominant pure cerebellar ataxia. SCA5 is sometimes known as "Lincoln ataxia," because the largest known family is descended from relatives of the United States President Abraham Lincoln. Using targeted capture and next-generation sequencing, we identified a homozygous stop codon in SPTBN2 in a consanguineous family in which childhood developmental ataxia co-segregates with cognitive impairment. The cognitive impairment could result from mutations in a second gene, but further analysis using whole-genome sequencing combined with SNP array analysis did not reveal any evidence of other mutations. We also examined a mouse knockout of β-III spectrin in which ataxia and progressive degeneration of cerebellar Purkinje cells has been previously reported and found morphological abnormalities in neurons from prefrontal cortex and deficits in object recognition tasks, consistent with the human cognitive phenotype. These data provide the first evidence that β-III spectrin plays an important role in cortical brain development and cognition, in addition to its function in the cerebellum; and we conclude that cognitive impairment is an integral part of this novel recessive ataxic syndrome, Spectrin-associated Autosomal Recessive Cerebellar Ataxia type 1 (SPARCA1). In addition, the identification of SPARCA1 and normal heterozygous carriers of the stop codon in SPTBN2 provides insights into the mechanism of molecular dominance in SCA5 and demonstrates that the cell-specific repertoire of spectrin subunits underlies a novel group of disorders, the neuronal spectrinopathies, which includes SCA5, SPARCA1, and a form of West syndrome

    Reduction of visual acuity decreases capacity to evaluate radiographic image quality

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    Aim: To determine the impact of reduced visual acuity on the evaluation of a test object and appendicular radiographs. Methods: Visual acuity was reduced by two different magnitudes using simulation glasses and compared to normal vision (no glasses). During phase one phantom images were produced for the purpose of counting objects by 13 observers and on phase 2 image appraisal of anatomical structures was performed on anonymized radiographic images by 7 observers. The monitors were calibrated (SMPTE RP133 test pattern) and the room lighting was maintained at 7 ±1 lux. Image display and data on grading were managed using ViewDEX (v.2.0) and the area under the visual grading characteristic (AUCVGC) was calculated using VGC Analyzer (v1.0.2). Inferential statistics were calculated using SPSS. Results: For the evaluation of appendicular radiographs the total interpretation time was longer when visual acuity was reduced with 2 pairs of simulation glasses (15.4 versus 8.9 min). Visual grading analysis showed that observers can lose the ability to detect anatomical and contrast differences when they have a simulated visual acuity reduction, being more challenging to differentiate low contrast details. No simulation glasses, compared to 1 pair gives an AUCVGC of 0.302 (0.280, 0.333), that decreases to 0.197 (0.175, 0.223) when using 2 pairs of glasses. Conclusions: Reduced visual acuity has a significant negative impact on the evaluation of test objects and clinical images. Further work is required to test the impact of reduced visual acuity on visual search, technical evaluation of a wider range of images as well as pathology detection/characterization performance

    Chronic pedunculopontine nucleus stimulation restores functional connectivity.

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    The mechanisms of deep brain stimulation (DBS) are poorly understood. Earlier, high-frequency DBS has been thought to represent a depolarization block of the target area and low-frequency stimulation has been thought to 'drive' neuronal activity. We investigated the long-term effect of low-frequency DBS in a longitudinal imaging study of a patient who received bilateral pedunculopontine nucleus stimulation. We used the diffusion tensor imaging techniques including probabilistic tractography and topographic mapping to analyze long-term changes in connectivity with low-frequency DBS. Post-DBS connectivity analysis suggested a normalization of pathological pedunculopontine nucleus connectivity with DBS therapy. These findings may help elucidate the mechanisms of DBS, suggesting neuroplasticity involving a reorganization of target connectivity long term. This is the first reported case showing neuroimaging evidence of neuroplasticity after low-frequency DBS
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