BACKGROUND IFIH1 is a protein-coding gene.Disorders associated with IFIH1 include Aicardi-Goutières syndrome(AGS)type 7 and Singleton-Merten syndrome type 1.Related pathways include RIG-I/MDA5-mediated induction ...BACKGROUND IFIH1 is a protein-coding gene.Disorders associated with IFIH1 include Aicardi-Goutières syndrome(AGS)type 7 and Singleton-Merten syndrome type 1.Related pathways include RIG-I/MDA5-mediated induction of the interferon(IFN)-α/βpathway and the innate immune system.AGS type 7 is an autosomal dominant inflammatory disorder characterized by severe neurological impairment.In infancy,most patients present with psychomotor retardation,axial hypotonia,spasticity,and brain imaging changes Laboratory assessments showed increased IFN-αactivity with upregulation of IFN signaling and IFN-stimulated gene expression.Some patients develop normally in the early stage,and then have episodic neurological deficits.CASE SUMMARY The 5-year-old girl presented with postpartum height and weight growth retardation,language retardation,brain atrophy,convulsions,and growth hormone deficiency.DNA samples were obtained from peripheral blood from the child and her parents for whole-exome sequencing and test of genome-wide copy number variation.Heterozygous mutations in the IFIH1 gene were found.Physical examination at admission found that language development was delayed,the reaction to name calling was average,there was no communication with people,but there was eye contact,no social smile,and no autonomous language.However,the child had rich gesture language and body language,could understand instructions,had bad temper.When she wants to achieve something,she starts crying or shouting.Cardiopulmonary examination showed no obvious abnormality,and abdominal examination was normal.Bilateral muscle strength and muscle tone were symmetrical and slightly decreased.Physiological reflexes exist,but pathological reflexes were not elicited.CONCLUSION We reported the clinical characteristics of a Chinese child with a clinical diagnosis of AGS type 7,which expanded the mutational spectrum of the IFIH1 gene.展开更多
Aicardi-Goutières syndrome (AGS) is a rare inflammatory encephalopathy mimicking in utero acquired viral infection. Cardinal findings comprise leukodystrophy, basal ganglia calcifications and cerebral atrophy alo...Aicardi-Goutières syndrome (AGS) is a rare inflammatory encephalopathy mimicking in utero acquired viral infection. Cardinal findings comprise leukodystrophy, basal ganglia calcifications and cerebral atrophy along with cerebrospinal fluid lymphocytosis and elevated interferon-α. In the majority of cases AGS is inherited as an autosomal recessive trait and caused by mutations in six genes including RNASEH2A, RNASEH2B, RNASEH2C, TREX1, SAMHD1 and ADAR1, all of which encode enzymes acting on nucleic acid species. Most patients present with first neurological signs in early infancy and experience severe global developmental delay. Here, we report on the unusual divergent phenotype of two siblings who both carry the most frequent AGS causing p.A177T (c.529G > A) RNASEH2B mutation in the homozygous state. While one sibling showed a typical AGS presentation with early onset and severe statomotor and mental impairment, the older sibling was intellectually completely normal. She was only diagnosed because of mild spasticity of the legs and serological signs of autoimmunity. These findings highlight the phenotypic variability of AGS and suggest that AGS may be underdiagnosed among children with mild cerebral palsy.展开更多
为解决自然条件下人脸表情识别易受角度、光线、遮挡物的影响以及人脸表情数据集各类表情数量不均衡等问题,提出基于Res2Net的人脸表情识别方法。使用Res2Net50作为特征提取的主干网络,在预处理阶段对图像随机翻转、缩放、裁剪进行数据...为解决自然条件下人脸表情识别易受角度、光线、遮挡物的影响以及人脸表情数据集各类表情数量不均衡等问题,提出基于Res2Net的人脸表情识别方法。使用Res2Net50作为特征提取的主干网络,在预处理阶段对图像随机翻转、缩放、裁剪进行数据增强,提升模型的泛化性。引入广义平均池化(generalized mean pooling, GeM)方式,关注图像中比较显著的区域,增强模型的鲁棒性;选用Focal Loss损失函数,针对表情类别不平衡和错误分类问题,提高较难识别表情的识别率。该方法在FER2013数据集上准确率达到了70.41%,相较于原Res2Net50网络提高了1.53%。结果表明,在自然条件下对人脸表情识别具有更好的准确性。展开更多
A novel image fusion network framework with an autonomous encoder and decoder is suggested to increase thevisual impression of fused images by improving the quality of infrared and visible light picture fusion. The ne...A novel image fusion network framework with an autonomous encoder and decoder is suggested to increase thevisual impression of fused images by improving the quality of infrared and visible light picture fusion. The networkcomprises an encoder module, fusion layer, decoder module, and edge improvementmodule. The encoder moduleutilizes an enhanced Inception module for shallow feature extraction, then combines Res2Net and Transformerto achieve deep-level co-extraction of local and global features from the original picture. An edge enhancementmodule (EEM) is created to extract significant edge features. A modal maximum difference fusion strategy isintroduced to enhance the adaptive representation of information in various regions of the source image, therebyenhancing the contrast of the fused image. The encoder and the EEM module extract features, which are thencombined in the fusion layer to create a fused picture using the decoder. Three datasets were chosen to test thealgorithmproposed in this paper. The results of the experiments demonstrate that the network effectively preservesbackground and detail information in both infrared and visible images, yielding superior outcomes in subjectiveand objective evaluations.展开更多
It is alarming for the fact that Wildfires number, severity and consequently impact have significantly increased during the last years, an aftermath of the Climate Change. One of the most affected areas worldwide is M...It is alarming for the fact that Wildfires number, severity and consequently impact have significantly increased during the last years, an aftermath of the Climate Change. One of the most affected areas worldwide is Mediterranean, due to the unique combination of its type of vegetation and demanding climatic conditions. This research is focused on the Region of Epirus in Greece, an area with significant natural vegetation and a range of geomorphological aspects. In order to estimate the Wildfire Risk Hazard, several factors have been used: geomorphological (slope, aspect, elevation, TWI, Hydrographic network), social (Settlements and landfils, roads, overhead lines and substations), environmental (land cover) and climatic (Fire Weather Index). Through a multi-criteria decision analysis (MCDA) and an analytic hierarchy process (AHP) in a GIS environment, the Wildfire Risk Hazard has been estimated not only for current conditions but also for future projections for the near future (2031-2060) and the far future (2071-2100). The selected case study includes the potential impact of the Wildfires to the installed (or targeted to be installed) RES projects in the studied region.展开更多
文摘BACKGROUND IFIH1 is a protein-coding gene.Disorders associated with IFIH1 include Aicardi-Goutières syndrome(AGS)type 7 and Singleton-Merten syndrome type 1.Related pathways include RIG-I/MDA5-mediated induction of the interferon(IFN)-α/βpathway and the innate immune system.AGS type 7 is an autosomal dominant inflammatory disorder characterized by severe neurological impairment.In infancy,most patients present with psychomotor retardation,axial hypotonia,spasticity,and brain imaging changes Laboratory assessments showed increased IFN-αactivity with upregulation of IFN signaling and IFN-stimulated gene expression.Some patients develop normally in the early stage,and then have episodic neurological deficits.CASE SUMMARY The 5-year-old girl presented with postpartum height and weight growth retardation,language retardation,brain atrophy,convulsions,and growth hormone deficiency.DNA samples were obtained from peripheral blood from the child and her parents for whole-exome sequencing and test of genome-wide copy number variation.Heterozygous mutations in the IFIH1 gene were found.Physical examination at admission found that language development was delayed,the reaction to name calling was average,there was no communication with people,but there was eye contact,no social smile,and no autonomous language.However,the child had rich gesture language and body language,could understand instructions,had bad temper.When she wants to achieve something,she starts crying or shouting.Cardiopulmonary examination showed no obvious abnormality,and abdominal examination was normal.Bilateral muscle strength and muscle tone were symmetrical and slightly decreased.Physiological reflexes exist,but pathological reflexes were not elicited.CONCLUSION We reported the clinical characteristics of a Chinese child with a clinical diagnosis of AGS type 7,which expanded the mutational spectrum of the IFIH1 gene.
基金supported by the Deutsche Forschungsgemeinschaft(VT 421/2-1 to V.T.,LE 1074/4-1 to M.L.-K.)a MeDDrive grant of the Medical Faculty,TU Dresdensupport by the Deutsche Forschungsgemeinschaft and the Open Access Publication Funds of the TU Dresden
文摘Aicardi-Goutières syndrome (AGS) is a rare inflammatory encephalopathy mimicking in utero acquired viral infection. Cardinal findings comprise leukodystrophy, basal ganglia calcifications and cerebral atrophy along with cerebrospinal fluid lymphocytosis and elevated interferon-α. In the majority of cases AGS is inherited as an autosomal recessive trait and caused by mutations in six genes including RNASEH2A, RNASEH2B, RNASEH2C, TREX1, SAMHD1 and ADAR1, all of which encode enzymes acting on nucleic acid species. Most patients present with first neurological signs in early infancy and experience severe global developmental delay. Here, we report on the unusual divergent phenotype of two siblings who both carry the most frequent AGS causing p.A177T (c.529G > A) RNASEH2B mutation in the homozygous state. While one sibling showed a typical AGS presentation with early onset and severe statomotor and mental impairment, the older sibling was intellectually completely normal. She was only diagnosed because of mild spasticity of the legs and serological signs of autoimmunity. These findings highlight the phenotypic variability of AGS and suggest that AGS may be underdiagnosed among children with mild cerebral palsy.
文摘为解决自然条件下人脸表情识别易受角度、光线、遮挡物的影响以及人脸表情数据集各类表情数量不均衡等问题,提出基于Res2Net的人脸表情识别方法。使用Res2Net50作为特征提取的主干网络,在预处理阶段对图像随机翻转、缩放、裁剪进行数据增强,提升模型的泛化性。引入广义平均池化(generalized mean pooling, GeM)方式,关注图像中比较显著的区域,增强模型的鲁棒性;选用Focal Loss损失函数,针对表情类别不平衡和错误分类问题,提高较难识别表情的识别率。该方法在FER2013数据集上准确率达到了70.41%,相较于原Res2Net50网络提高了1.53%。结果表明,在自然条件下对人脸表情识别具有更好的准确性。
文摘A novel image fusion network framework with an autonomous encoder and decoder is suggested to increase thevisual impression of fused images by improving the quality of infrared and visible light picture fusion. The networkcomprises an encoder module, fusion layer, decoder module, and edge improvementmodule. The encoder moduleutilizes an enhanced Inception module for shallow feature extraction, then combines Res2Net and Transformerto achieve deep-level co-extraction of local and global features from the original picture. An edge enhancementmodule (EEM) is created to extract significant edge features. A modal maximum difference fusion strategy isintroduced to enhance the adaptive representation of information in various regions of the source image, therebyenhancing the contrast of the fused image. The encoder and the EEM module extract features, which are thencombined in the fusion layer to create a fused picture using the decoder. Three datasets were chosen to test thealgorithmproposed in this paper. The results of the experiments demonstrate that the network effectively preservesbackground and detail information in both infrared and visible images, yielding superior outcomes in subjectiveand objective evaluations.
文摘It is alarming for the fact that Wildfires number, severity and consequently impact have significantly increased during the last years, an aftermath of the Climate Change. One of the most affected areas worldwide is Mediterranean, due to the unique combination of its type of vegetation and demanding climatic conditions. This research is focused on the Region of Epirus in Greece, an area with significant natural vegetation and a range of geomorphological aspects. In order to estimate the Wildfire Risk Hazard, several factors have been used: geomorphological (slope, aspect, elevation, TWI, Hydrographic network), social (Settlements and landfils, roads, overhead lines and substations), environmental (land cover) and climatic (Fire Weather Index). Through a multi-criteria decision analysis (MCDA) and an analytic hierarchy process (AHP) in a GIS environment, the Wildfire Risk Hazard has been estimated not only for current conditions but also for future projections for the near future (2031-2060) and the far future (2071-2100). The selected case study includes the potential impact of the Wildfires to the installed (or targeted to be installed) RES projects in the studied region.
