75 research outputs found
Estimation of Sediment Transport Parameters From Measured Suspended Concentration Time Series Under Waves and Currents With a New Conceptual Model
In-situ observations of hydrodynamics and suspended sediment concentrations (SSCs) were conducted on an abandoned lobe in the northern part of the modern Yellow River Delta, China. The SSC record at the site is found to be the superposition of a general trend (fast increase and slow decrease cycle) caused by storm waves (SubSSC1) and relatively smaller fluctuations caused by tidal currents (SubSSC2). Physically, this indicates that storm waves eroded the bottom sediments while tidal currents then re-suspended and advected the suspended sediments in the study area. To further obtain the suspended sediment transport parameters, first, SubSSC1 is modeled with significant wave height which incorporates a âmemory curveâ to consider the remaining impacts of historical waves. It is detected that waves in the past 75 hr still influence the present SSC which is reasonable because 75 hr is roughly the typical duration of a normal storm. Second, SubSSC2 is modeled with tidal excursion and trigonometric functions with measured periodicities. Finally, some sediment transport parameters, for example, the background SSC, the horizontal SSC gradient, the tidal constituents that advect it, and their relative time lags are optimized from the best fits of the measured and modeled SSC time series. The proposed framework for model construction and parameter optimization can be extended to other sea areas for inferring sediment transport parameters from field SSC time series at a specific station
Repeat expansion scanning of the NOTCH2NLC gene in patients with multiple system atrophy
© 2020 The Authors. Annals of Clinical and Translational Neurology published by Wiley Periodicals, Inc on behalf of American Neurological Association. Objective: Trinucleotide GGC repeat expansion in the 5âUTR of the NOTCH2NLC gene has been recognized as the pathogenesis of neuronal intranuclear inclusion disease (NIID). Previous studies have described that some NIID patients showed clinical and pathological similarities with multiple system atrophy (MSA). This study aimed to address the possibility that GGC repeat expansion in NOTCH2NLC might be associated with some cases diagnosed as MSA. Methods: A total of 189 patients with probable or possible MSA were recruited to screen for GGC repeat expansion in NOTCH2NLC by repeat-primed PCR (RP-PCR). In addition, long-read sequencing (LRS) was performed for all patients with RP-PCR-positive expansion, five patients with RP-PCR-negative expansion, and five controls on the Nanopore platform. Skin biopsies were performed on two patients with GGC expansion. Results: Five of 189 patients (2.6%) were found to have GGC expansion in NOTCH2NLC. LRS results identified that the five patients had GGC expansion between 101 and 266, but five patients with RP-PCR-negative expansion and five controls had GGC expansion between 8 and 29. Besides the typical symptoms and signs of MSA, patients with GGC expansion might have longer disease duration, severe urinary retention, and prominent cognitive impairment. In the skin samples from the patients with GGC expansion, typical p62-postive but alpha-synuclein-negative intranuclear inclusions were found in fibroblasts, adipocyte and ductal epithelial cells of sweat glands. Conclusion: Trinucleotide GGC repeat expansion in NOTCH2NLC could be observed in patients with clinically diagnosed MSA. Adult-onset NIID should be considered as a differential diagnosis of MSA
Neural-Linear Attack Based on Distribution Data and Its Application on DES
The neural-differential distinguisher proposed by Gohr boosted the development of neural aided differential attack. As another significant cryptanalysis technique, linear attack has not been developing as rapidly in combination with deep learning technology as differential attack. In 2020, Hou et al. proposed the first neural-linear attack with one bit key recovery on 3, 4 and 5-round DES and restricted multiple bits recovery on 4 rounds, where the effective bits in one plain-ciphertext pair are spliced as one data sample. In this paper, we compare the neural-linear cryptanalysis with neural-differential cryptanalysis and propose a new data preprocessing algorithm depending on their similarities and differences. We call the new data structure distribution data. Basing on it, we mount our key recovery on round-reduced DESâfirst, we raise the accuracy of the neural-linear distinguisher by about 50%. Second, our distinguisher improves the effectiveness of one bit key recovery against 3, 4 and 5-round DES than the former one, and attack 6-round DES with success rate of 60.6% using 2048 plain-ciphertext pairs. Third, we propose a real multiple bit key recovery algorithm, leading neural-linear attack from theory to practice
U-Shaped Relationship Between Functional Outcome and Serum Uric Acid in Ischemic Stroke
Background/Aims: We sought to assess a consecutive number of patients with first-ever acute ischemic stroke (AIS), the clinical relevance in regard to functional outcome of the serum uric acid (SUA) measured at admission. Methods: In 2 prospective centers for observational study, serum concentrations of SUA were measured on admission in the serum of 710 consecutive patients with AIS. SUA concentrations were determined by high-performance liquid chromatography. SUA, NIH stroke scale (NIHSS), and conventional risk factors were evaluated to determine their value to predict functional outcome within 3 months. Results: During the follow-up, an unfavorable functional outcome (defined as a mRS score > 2) was found in 219 (30.8%) patients. The unfavorable functional outcome distribution across the SUA quartiles ranged between 12.4% (third quartile) and 50.6% (first quartile). After adjusting for all other significant outcome predictors, SUA concentration remained an independent unfavorable outcome predictor with an adjusted OR of 0.996 (95% CI, 0.993-0.998; P< 0.001). Conclusions: The data show that the U-shaped nature of the exposure-risk relationship was more prominent when the data were assessed in deciles (based on the SUA values). This model predicted the lowest relative risk of unfavorable outcome in the 67th percentile (corresponding to 309 ”mol/L). SUA was significantly associated with the risk of poor functional outcomes in Chinese patients with stroke
3-D electrical structure and tectonic dynamics in the Yangbajing area based on the array magnetotelluric data
The well-known N-S-trending fault in the Yangbajing area plays a crucial role in the tectonic evolution of the Tibetan Plateau. Previous researches on a few E-W geophysical profiles suggested that the eastern shear at the base of the upper crust and/or lithosphere deformation brought on by asthenosphere upwelling are the major causes of the Yadong-Gulu riftâs creation. Here we propose a 3-D electrical resistivity model derived from the magnetotelluric (MT) array data spanning the Yadong-Gulu rift (YGR), and the distribution of temperature and melt fraction is estimated by the experimental calibrated relationships bridging electrical conductivity and temperature/melt fraction. The result reveals that the Indian slab subducted steeply in the east of the Yadong-Gulu rift, while Indian slab may have delaminated with a flat subduction angle in the west. The temperature distribution shows that the upper mantle of the northern Lhasa terrane is hotter than that of the southern Lhasa terrane. This is likely the result of mantle upwelling caused by either the subduction of the Indian slab or thickened Tibetan lithosphere delamination. Moreover, the strength of the mid-lower crust is so low that it may meet the conditions of the local crust flow in the west-east direction. The local crustal flow and the pulling force from the upwelling asthenosphere jointly contributed to the formation of the Yadong-Gulu rift. These main factors exist in different stages of the evolution of the Yadong-Gulu rift
Jump-seq: Genome-Wide Capture and Amplification of 5-Hydroxymethylcytosine Sites
5-Hydroxymethylcytosine
(5hmC) arises from the oxidation of 5-methylcytosine
(5mC) by Fe2+ and 2-oxoglutarate-dependent 10â11
translocation (TET) family proteins. Substantial levels of 5hmC accumulate
in many mammalian tissues, especially in neurons and embryonic stem
cells, suggesting a potential active role for 5hmC in epigenetic regulation
beyond being simply an intermediate of active DNA demethylation. 5mC
and 5hmC undergo dynamic changes during embryogenesis, neurogenesis,
hematopoietic development, and oncogenesis. While methods have been
developed to map 5hmC, more efficient approaches to detect 5hmC at
base resolution are still highly desirable. Herein, we present a new
method, Jump-seq, to capture and amplify 5hmC in genomic DNA. The
principle of this method is to label 5hmC by the 6-N3-glucose moiety and connect a hairpin DNA oligonucleotide carrying
an alkyne group to the azide-modified 5hmC via Huisgen cycloaddition
(click) chemistry. Primer extension starts from the hairpin motif
to the modified 5hmC site and then continues to âlandâ
on genomic DNA. 5hmC sites are inferred from genomic DNA sequences
immediately spanning the 5-prime junction. This technology was validated,
and its utility in 5hmC identification was confirmed
Whole Exome Sequencing Identifies a Novel Pathogenic RET Variant in Hirschsprung Disease
Hirschsprung disease is a birth defect characterized by complete absence of neuronal ganglion cells from a portion of the intestinal tract. To uncover genetic variants contributing to HSCR, we performed whole exome sequencing on seven members of an HSCR family. With the minor allele frequency (MAF) calculated by gnomAD, we finally filtered a total of 1,059 rare variants in this family (MAF < 0.1%). With the mode of inheritance and pathogenicity scores by bioinformatics tools, we identified an in-frameshift variant p.Phe147del in RET as the disease-causing variant. Further analysis revealed that the in-frameshift variant may function by disrupting the glycosylation of RET protein. To our knowledge, this is the first study to report the in-frameshift variant p.Phe147del in RET responsible for heritable HSCR
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