Bilateral striatal necrosis due to homoplasmic mitochondrial 3697G\u3eA mutation presents with incomplete penetrance and sex bias

© 2019 The Authors. Molecular Genetics & Genomic Medicine published by Wiley Periodicals, Inc. Background: Heteroplasmic mitochondrial 3697G\u3eA mutation has been associated with leber hereditary optic neuropathy (LHON), mitochondrial encephalopathy, lactic acidosis and stroke-like episodes (MELAS), and LHON/MELAS overlap syndrome. However, homoplasmic m.3697G\u3eA mutation was only found in a family with Leigh syndrome, and the phenotype and pathogenicity of this homoplasmic mutation still need to be investigated in new patients. Methods: The clinical interviews were conducted in 12 individuals from a multiple-generation inherited family. Mutations were screened through exome next-generation sequencing and subsequently confirmed by PCR-restriction fragment length polymorphism. Mitochondrial complex activities and ATP production rate were measured by biochemical analysis. Results: The male offspring with bilateral striatal necrosis (BSN) were characterized by severe spastic dystonia and complete penetrance, while the female offspring presented with mild symptom and low penetrance. All offspring carried homoplasmic mutation of NC_012920.1: m.3697G\u3eA, p.(Gly131Ser). Biochemical analysis revealed an isolated defect of complex I, but the magnitude of the defect was higher in the male patients than that in the female ones. The ATP production rate also exhibited a similar pattern. However, no possible modifier genes on the X chromosome were identified. Conclusion: Homoplasmic m.3697G\u3eA mutation could be associated with BSN, which expanded the clinical spectrum of m.3697G\u3eA. Our preliminary investigations had not found the underlying modifiers to support the double hit hypothesis, while the high level of estrogens in the female patients might exert a potential compensatory effect on mutant cell metabolism

Preparation and Characterization of C@Fe3O4 Supported Pd Magnetic Nanoparticles for Degradation of Dye Wastewater

The core-shell structure Fe3O4@C magnetic nanoparticles were synthesized with superparamagnetic Fe3O4 nanosphere as a magnetic core, and soluble starch resin as a carbon source via a solvothermal method. Silica-iron oxide and Fe3O4@C carriers with a core-shell structure were prepared by carbonization of organic material on the surface of Fe3O4 nanoparticles, Fe3O4@C supported Pd were processed into magnetic nano-catalysts with core-shell structure, and their catalytic properties were investigated. The resulting environmentally friendly magnetic material can be used to degrade dye wastewater. The structure of magnetic nanoparticles was characterized using TEM, XRD and VSM. The effects of preparation conditions in the structure of the Fe3O4@C magnetic nanoparticles were taken out. The results indicate that from XRD, the magnetic nano particles Fe3O4@C synthesized of carbon sources have amorphous carbon diffraction peak except for all the characteristic peaks of Fe3O4. The saturation magnetization Fe3O4, Fe3O4@SiO2 and Fe3O4@C – 59.14 emu/g, 49.12 emu/g and 27.95 emu/g, respectively

Agenda 21.

A Agenda 21 Brasileira é um processo e, ao mesmo tempo, instrumento de planejamento participativo para o desenvolvimento sustentável e que tem como eixo central a sustentabilidade, compatibilizando a conservação ambiental, a justiça social e o crescimento econômico. O documento e resultado de uma vasta consulta a população brasileira, sendo construída a partir das diretrizes da Agenda 21 global. Trata-se, portanto, de um instrumento fundamental para a construção da democracia ativa e da cidadania participativa no pais. A primeira fase foi a construção da Agenda 21 Brasileira. Esse processo, que se deu de 1996 a 2002, foi coordenado pela Comissão de Politicas de Desenvolvimento Sustentável e da Agenda 21 Nacional - CPDS e teve o envolvimento de cerca de 40.000 pessoas de todo o Brasil. O documento Agenda 21 Brasileira foi concluído em 2002. A partir de 2003, a Agenda 21 Brasileira não somente entrou na fase de implementação assistida pela CPDS, como também foi elevada a condição de Programa do Plano Plurianual, PPA 2004-2007, pelo atual governo. Como programa, ela adquire mais foça politica e institucional, passando a ser instrumento fundamental para a construção do Brasil Sustentável, estando coadunada com as diretrizes da politica ambiental do Governo-transversalidade, desenvolvimento sustentável, fortalecimento do Sistema e participação social, adotando referenciais importantes como a Carta da Terra. Portanto, a Agenda 21, que tem provado ser um guia eficiente para processos de união da sociedade, compreensão dos conceitos de cidadania e de sua aplicação, e hoje um dos grandes instrumentos de formação de politicas públicas no Brasil.Agenda 21 Brazilian is a process and, at the same time, instrument of participative planning for the sustainable development and that it has as central axle the sustentabilidade, compatibizando the ambient conservation, social justice and the economic growth. The document is resulted of a vast one consults the Brazilian population, being constructed from the lines of direction of global Agenda 21. It is treated, therefore, of a basic instrument for the construction of the active democracy and the participative citizenship in the Country. The first phase was the construction of Agenda 21 Brazilian. This process, that if gave of 1996 the 2002, was co-ordinated by the Commission of Politics of Sustainable Development and the National Agenda 21 - CPDS and had the envolvement of about 40.000 people of all Brazil. The document Agenda 21 Brazilian was concluded in 2002. From 2003, Agenda 21 Brazilian not only entered in the phase of implementation attended for the CPDS, as also condition of Program of the Puritanical Plan was raised a, PPA 2004-2007, for the current government. As program, it it acquires more force institutional politics and, starting to be basic instrument for the construction of Sustainable Brazil, being coadunate with the lines of direction of the ambient politics of the Government-transversaldade, sustainable development, fortalecimento of the System and social participation, adopting referenciais important as the Letter of the Land. Therefore, Agenda 21, that it has proven being an efficient guide for processes of union of the society, understanding of the concepts of citizenship and its application, is today one of the great instruments of formation of public politics in Brazi

The Polarized Cosmic Hand: IXPE Observations of PSR B1509-58/MSH 15-52

We describe IXPE polarization observations of the Pulsar Wind Nebula (PWN) MSH15-52, the `Cosmic Hand'. We find X-ray polarization across the PWN, with B field vectors generally aligned with filamentary X-ray structures. High significance polarization is seen in arcs surrounding the pulsar and toward the end of the `jet', with polarization degree PD>70%, thus approaching the maximum allowed synchrotron value. In contrast, the base of the jet has lower polarization, indicating a complex magnetic field at significant angle to the jet axis. We also detect significant polarization from PSR B1509-58 itself. Although only the central pulse-phase bin of the pulse has high individual significance, flanking bins provide lower significance detections and, in conjunction with the X-ray image and radio polarization, can be used to constrain rotating vector model solutions for the pulsar geometry.Comment: To appear in the Astrophysical Journa

MFTransNet: A Multi-Modal Fusion with CNN-Transformer Network for Semantic Segmentation of HSR Remote Sensing Images

Due to the inherent inter-class similarity and class imbalance of remote sensing images, it is difficult to obtain effective results in single-source semantic segmentation. We consider applying multi-modal data to the task of the semantic segmentation of HSR (high spatial resolution) remote sensing images, and obtain richer semantic information by data fusion to improve the accuracy and efficiency of segmentation. However, it is still a great challenge to discover how to achieve efficient and useful information complementarity based on multi-modal remote sensing image semantic segmentation, so we have to seriously examine the numerous models. Transformer has made remarkable progress in decreasing model complexity and improving scalability and training efficiency in computer vision tasks. Therefore, we introduce Transformer into multi-modal semantic segmentation. In order to cope with the issue that the Transformer model requires a large amount of computing resources, we propose a model, MFTransNet, which combines a CNN (convolutional neural network) and Transformer to realize a lightweight multi-modal semantic segmentation structure. To do this, a small convolutional network is first used for performing preliminary feature extraction. Subsequently, these features are sent to the multi-head feature fusion module to achieve adaptive feature fusion. Finally, the features of different scales are integrated together through a multi-scale decoder. The experimental results demonstrate that MFTransNet achieves the best balance among segmentation accuracy, memory-usage efficiency and inference speed

MFTransNet: A Multi-Modal Fusion with CNN-Transformer Network for Semantic Segmentation of HSR Remote Sensing Images

Due to the inherent inter-class similarity and class imbalance of remote sensing images, it is difficult to obtain effective results in single-source semantic segmentation. We consider applying multi-modal data to the task of the semantic segmentation of HSR (high spatial resolution) remote sensing images, and obtain richer semantic information by data fusion to improve the accuracy and efficiency of segmentation. However, it is still a great challenge to discover how to achieve efficient and useful information complementarity based on multi-modal remote sensing image semantic segmentation, so we have to seriously examine the numerous models. Transformer has made remarkable progress in decreasing model complexity and improving scalability and training efficiency in computer vision tasks. Therefore, we introduce Transformer into multi-modal semantic segmentation. In order to cope with the issue that the Transformer model requires a large amount of computing resources, we propose a model, MFTransNet, which combines a CNN (convolutional neural network) and Transformer to realize a lightweight multi-modal semantic segmentation structure. To do this, a small convolutional network is first used for performing preliminary feature extraction. Subsequently, these features are sent to the multi-head feature fusion module to achieve adaptive feature fusion. Finally, the features of different scales are integrated together through a multi-scale decoder. The experimental results demonstrate that MFTransNet achieves the best balance among segmentation accuracy, memory-usage efficiency and inference speed

Automatic Analysis of Lateral Cephalograms Based on Multiresolution Decision Tree Regression Voting

Cephalometric analysis is a standard tool for assessment and prediction of craniofacial growth, orthodontic diagnosis, and oral-maxillofacial treatment planning. The aim of this study is to develop a fully automatic system of cephalometric analysis, including cephalometric landmark detection and cephalometric measurement in lateral cephalograms for malformation classification and assessment of dental growth and soft tissue profile. First, a novel method of multiscale decision tree regression voting using SIFT-based patch features is proposed for automatic landmark detection in lateral cephalometric radiographs. Then, some clinical measurements are calculated by using the detected landmark positions. Finally, two databases are tested in this study: one is the benchmark database of 300 lateral cephalograms from 2015 ISBI Challenge, and the other is our own database of 165 lateral cephalograms. Experimental results show that the performance of our proposed method is satisfactory for landmark detection and measurement analysis in lateral cephalograms

Recent progress on Majorana in semiconductor-superconductor heterostructures--Engineering and detection

Majorana zero modes (MZMs) are exotic excitations (in condensed matter systems) that have potential applications in topological quantum computation. Though MZMs have been predicted on many platforms, their existence of them is still under debate. In this paper, we review the recent progress of engineering and detecting MZMs in semiconductor-superconductor heterostructures. We also briefly review the protocols of implementing topological quantum computation by hybrid semiconductor-superconductor nanowires.Comment: Invited review in Science China Physics Mechanics & Astronomy, with 7 figures, 15 page

In Situ N, O Co-Doped Nanoporous Carbon Derived from Mixed Egg and Rice Waste as Green Supercapacitor

The conversion of nitrogen–oxygen-rich biomass wastes into heteroatomic co-doped nanostructured carbons used as energy storage materials has received widespread attention. In this study, an in situ nitrogen–oxygen co-doped porous carbon was prepared for supercapacitor applications via a two-step method of pre-carbonization and pyrolytic activation using mixed egg yolk/white and rice waste. The optimal sample (YPAC-1) was found to have a 3D honeycomb structure composed of abundant micropores and mesopores with a high specific surface area of 1572.1 m2 g−1, which provided abundant storage space and a wide transport path for electrolyte ions. Notably, the specific capacitance of the constructed three-electrode system was as high as 446.22 F g−1 at a current density of 1 A g−1 and remained above 50% at 10 A g−1. The capacitance retention was 82.26% after up to 10,000 cycles. The symmetrical capacitor based on YPAC-1 with a two-electrode structure exhibited an energy density of 8.3 Wh kg−1 when the power density was 136 W kg−1. These results indicate that porous carbon materials prepared from mixed protein and carbohydrate waste have promising applications in the field of supercapacitors