LGMD

LGMD
  • 文章类型: Journal Article
    基于蝗虫视觉大脑中小叶巨运动探测器(LGMD)的生物启发模型在各种场景下的碰撞感知中受到了广泛的关注和应用。这些模型在视觉处理中具有低功耗和高计算效率等优点。然而,当前基于LGMD的计算模型,通常组织为四层神经网络,经常遇到与嘈杂信号有关的挑战,特别是在复杂的动态环境中。生物学研究揭示了突触传递的内在随机性,可以帮助神经计算减轻噪音。与这些生物学发现一致,本文介绍了一种概率LGMD(Prob-LGMD)模型,该模型将概率纳入多个层之间的突触连接中,从而捕获信号传输中的不确定性,互动,和神经元之间的整合。使用一系列视觉刺激对拟议的Prob-LGMD模型和两个常规LGMD模型进行了比较测试,包括室内结构化场景和复杂的室外场景,都受到人为噪音的影响。此外,将该模型的性能与标准工程噪声过滤方法进行了比较。结果清楚地表明,所提出的模型优于所有比较方法,表现出显着改善的噪声耐受性。这项研究展示了一种简单而有效的方法来增强嘈杂环境中的碰撞感知。
    Bio-inspired models based on the lobula giant movement detector (LGMD) in the locust\'s visual brain have received extensive attention and application for collision perception in various scenarios. These models offer advantages such as low power consumption and high computational efficiency in visual processing. However, current LGMD-based computational models, typically organized as four-layered neural networks, often encounter challenges related to noisy signals, particularly in complex dynamic environments. Biological studies have unveiled the intrinsic stochastic nature of synaptic transmission, which can aid neural computation in mitigating noise. In alignment with these biological findings, this paper introduces a probabilistic LGMD (Prob-LGMD) model that incorporates a probability into the synaptic connections between multiple layers, thereby capturing the uncertainty in signal transmission, interaction, and integration among neurons. Comparative testing of the proposed Prob-LGMD model and two conventional LGMD models was conducted using a range of visual stimuli, including indoor structured scenes and complex outdoor scenes, all subject to artificial noise. Additionally, the model\'s performance was compared to standard engineering noise-filtering methods. The results clearly demonstrate that the proposed model outperforms all comparative methods, exhibiting a significant improvement in noise tolerance. This study showcases a straightforward yet effective approach to enhance collision perception in noisy environments.
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  • 文章类型: Journal Article
    昆虫在复杂的自然环境中表现出非凡的能力,不管是逃避捕食者,捕获猎物,或者寻找细节,所有这些都依赖于它们紧凑而可靠的神经系统。我们探索生物启发的机器人视觉系统领域,专注于蝗虫启发的Lobula巨型运动探测器(LGMD)模型。对现有的LGMD模型进行了全面评估,确定它们的共同元属性,这些属性对它们的功能至关重要。这篇文章揭示了一个共同的框架,以分层结构和计算策略为特征,这对于增强生物启发模型在各种应用中的能力至关重要。分析的结果是战略原型,体现了已识别的元属性。它代表了一种模块化和更灵活的方法,用于开发更具响应性和适应性的机器人视觉系统。该观点突出了战略原型的潜力:LGMD-通用原型(LGMD-UP),重新构建LGMD模型并促进我们对机器人技术中生物启发视觉系统的理解和实施的关键。它可能会为研究和实际应用开辟更加灵活和适应性强的途径。
    Insects exhibit remarkable abilities in navigating complex natural environments, whether it be evading predators, capturing prey, or seeking out con-specifics, all of which rely on their compact yet reliable neural systems. We explore the field of bio-inspired robotic vision systems, focusing on the locust inspired Lobula Giant Movement Detector (LGMD) models. The existing LGMD models are thoroughly evaluated, identifying their common meta-properties that are essential for their functionality. This article reveals a common framework, characterized by layered structures and computational strategies, which is crucial for enhancing the capability of bio-inspired models for diverse applications. The result of this analysis is the Strategic Prototype, which embodies the identified meta-properties. It represents a modular and more flexible method for developing more responsive and adaptable robotic visual systems. The perspective highlights the potential of the Strategic Prototype: LGMD-Universally Prototype (LGMD-UP), the key to re-framing LGMD models and advancing our understanding and implementation of bio-inspired visual systems in robotics. It might open up more flexible and adaptable avenues for research and practical applications.
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  • 文章类型: Journal Article
    视觉感知为无人机(UAV)提供了越来越全面和即时的环境感知,成为无人机智能避障的关键技术。然而,无人机的快速运动导致视野发生重大变化,影响算法准确提取碰撞视觉特征的能力。因此,算法存在高误报率和延迟警告时间的问题。在研究不同阶次的视场角曲线时,发现,关于隐现物体角度大小的高阶信息曲线的峰值时间与碰撞时间(TTC)线性相关,并且发生在碰撞之前。这一发现意味着对角度大小的高阶信息进行编码可以解决响应滞后的问题。此外,与背景干扰相比,隐现物体的图像调整以满足几个隐现的视觉线索的事实意味着整合各种视场特征将可能增强模型对运动干扰的抵抗力。因此,本文提出了一种用于检测隐现物体的简洁的A-LGMD模型。该模型基于图像角加速度,解决了与不精确的特征提取和时间序列建模不足相关的问题,以增强模型在无人机快速自运动过程中快速准确检测隐现物体的能力。该模型从小叶巨型运动探测器(LGMD)中获得灵感,这显示了对加速度信息的高灵敏度。在提出的模型中,角度大小的高阶信息由网络抽象,并与多个视野角度特征融合,以促进对隐现物体的选择性响应。在合成和真实数据集上进行的实验表明,该模型可以有效地检测图像的角加速度,过滤掉无关紧要的背景运动,并提供预警。这些发现表明,该模型在微型或小型无人机的嵌入式碰撞检测系统中可能具有巨大的潜力。
    Visual perception equips unmanned aerial vehicles (UAVs) with increasingly comprehensive and instant environmental perception, rendering it a crucial technology in intelligent UAV obstacle avoidance. However, the rapid movements of UAVs cause significant changes in the field of view, affecting the algorithms\' ability to extract the visual features of collisions accurately. As a result, algorithms suffer from a high rate of false alarms and a delay in warning time. During the study of visual field angle curves of different orders, it was found that the peak times of the curves of higher-order information on the angular size of looming objects are linearly related to the time to collision (TTC) and occur before collisions. This discovery implies that encoding higher-order information on the angular size could resolve the issue of response lag. Furthermore, the fact that the image of a looming object adjusts to meet several looming visual cues compared to the background interference implies that integrating various field-of-view characteristics will likely enhance the model\'s resistance to motion interference. Therefore, this paper presents a concise A-LGMD model for detecting looming objects. The model is based on image angular acceleration and addresses problems related to imprecise feature extraction and insufficient time series modeling to enhance the model\'s ability to rapidly and precisely detect looming objects during the rapid self-motion of UAVs. The model draws inspiration from the lobula giant movement detector (LGMD), which shows high sensitivity to acceleration information. In the proposed model, higher-order information on the angular size is abstracted by the network and fused with multiple visual field angle characteristics to promote the selective response to looming objects. Experiments carried out on synthetic and real-world datasets reveal that the model can efficiently detect the angular acceleration of an image, filter out insignificant background motion, and provide early warnings. These findings indicate that the model could have significant potential in embedded collision detection systems of micro or small UAVs.
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  • 文章类型: Case Reports
    我们报道了一例31岁的中国妇女,主要主诉下肢无力,被诊断为肢体带型肌营养不良2B(LGMD2B),具有DYSF基因的复合杂合突变。同时,该女性是X连锁DMD基因突变的无症状携带者。肌电图,肌肉MRI,肌肉活检提示慢性肌源性损伤伴dysferlin缺失。作为基因检测的结果,DYSF基因外显子49第5,497位的复合杂合G-to-T碱基置换,导致在DYSF基因内含子42的第1,833位从谷氨酸到终止密码子的密码子变化,以及在第4,638+8位的杂合C-G碱基变化,从未被报道过,被鉴定为候选致病突变。不幸的是,在该患者中还发现了X染色体上DMD基因的DMD基因突变c.3921+12A>G。最后,患者在临床和遗传上被诊断为LGMD2B.在过去的两年里,病人的下肢无力变得稍微严重,导致步行的总距离比以前更远。幸运的是,在后续行动中,她的儿子没有表现出行动缓慢或受限。通过下一代测序进行的基因检测证实了LGMD2B的最终诊断,我们在DYSF基因中鉴定了新的复合杂合变体,对基因编码疾病的准确诊断具有重要意义。对于具有多个致病基因突变的遗传性神经肌肉疾病,临床上需要给予高度重视。遗传咨询和临床随访应该是未来的重点,有希望的治疗方法也值得探索。
    We report the case of a 31-year-old Chinese woman with a chief complaint of weakness in the lower limbs, which was diagnosed as limb-girdle muscular dystrophy 2B (LGMD2B) with compound heterozygous mutations of the DYSF gene. Meanwhile, this woman is an asymptomatic carrier with the mutation of the X-linked DMD gene. The electromyography, muscle MRI, and muscle biopsy indicated a chronic myogenic injury with dysferlin deletion. As a result of genetic testing, compound heterozygous G-to-T base substitution at position 5,497 in exon 49 of the DYSF gene, leading to a codon change from glutamic acid to termination codon at position 1,833, and a heterozygous C-to-G base change at position 4,638 + 8 in intron 42 of the DYSF gene with a consequence of splice, which has never been reported, were identified as candidate causative mutations. Unfortunately, DMD gene mutation c.3921+12A>G of the DMD gene on the X chromosome was also found in this patient. Finally, the patient was diagnosed as LGMD2B clinically and genetically. In the previous 2 years, the patient\'s lower limb weakness became slightly worse, resulting in even the total distance walked than before. Fortunately, during the follow-up, her son had not shown slowness or limitation of movement. Genetic testing by next-generation sequencing confirmed the final diagnosis of LGMD2B, and we identified the novel compound heterozygous variants in the DYSF gene, which is of great significance to the accurate diagnosis of genetically coded diseases. Much attention needs to be paid in clinics toward hereditary neuromuscular diseases with multiple pathogenic gene mutations. Genetic counseling and clinical follow-up should be the priorities in future, and promising treatments are also worth exploring.
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  • 文章类型: Journal Article
    生理研究表明,一组蝗虫的小叶巨型运动探测器(LGMDs)对接近的物体具有多种碰撞选择性,在杂乱的环境中,比他们的背景相对更暗或更亮。这种碰撞选择性的多样性可以为蝗虫逃离天敌的攻击提供服务,并在没有碰撞的群中迁移。对于计算研究,已经努力实现多样化的选择性,然而,仍然是最具挑战性的任务之一,尤其是在复杂和动态的现实世界场景中。现有的模型主要表述为仅具有前馈信息处理的多层神经网络,并且不考虑反馈回路中再入信号的影响,这是运动知觉的重要调节回路,然而从未在迫在眉睫的感知中被探索过。在本文中,我们启动了反馈神经计算来构建一个新的基于LGMD的模型,名为F-LGMD,以研究实施不同碰撞选择性时的功效。因此,提出的神经网络模型具有前馈处理和反馈回路的特点。反馈控制将并行开/关通道的输出信号传回其起始神经元,从而使前馈神经网络的一部分,即,ON/OFF通道和反馈回路形成迭代循环系统。此外,反馈控制是瞬时的,这导致存在一个固定点,从而将固定点定理应用于严格推导反馈系数的有效范围。为了验证该方法的有效性,我们进行了涵盖合成和自然碰撞数据集的系统实验,还有在线机器人测试。实验结果表明,F-LGMD,有了统一的网络,可以实现生理学中揭示的不同的碰撞选择性,与以前的研究相比,这不仅大大减少了手工制作的参数,而且还通过反馈神经计算为碰撞感知提供了一种高效和鲁棒的方案。
    Physiological studies have shown that a group of locust\'s lobula giant movement detectors (LGMDs) has a diversity of collision selectivity to approaching objects, relatively darker or brighter than their backgrounds in cluttered environments. Such diversity of collision selectivity can serve locusts to escape from attack by natural enemies, and migrate in swarm free of collision. For computational studies, endeavours have been made to realize the diverse selectivity which, however, is still one of the most challenging tasks especially in complex and dynamic real world scenarios. The existing models are mainly formulated as multi-layered neural networks with merely feed-forward information processing, and do not take into account the effect of re-entrant signals in feedback loop, which is an essential regulatory loop for motion perception, yet never been explored in looming perception. In this paper, we inaugurate feedback neural computation for constructing a new LGMD-based model, named F-LGMD to look into the efficacy upon implementing different collision selectivity. Accordingly, the proposed neural network model features both feed-forward processing and feedback loop. The feedback control propagates output signals of parallel ON/OFF channels back into their starting neurons, thus makes part of the feed-forward neural network, i.e. the ON/OFF channels and the feedback loop form an iterative cycle system. Moreover, the feedback control is instantaneous, which leads to the existence of a fixed point whereby the fixed point theorem is applied to rigorously derive valid range of feedback coefficients. To verify the effectiveness of the proposed method, we conduct systematic experiments covering synthetic and natural collision datasets, and also online robotic tests. The experimental results show that the F-LGMD, with a unified network, can fulfil the diverse collision selectivity revealed in physiology, which not only reduces considerably the handcrafted parameters compared to previous studies, but also offers a both efficient and robust scheme for collision perception through feedback neural computation.
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  • 文章类型: Journal Article
    含大力水手结构域的蛋白3(POPDC3),具有独特的环磷酸腺苷(cAMP)结合位点的跨膜蛋白,在哺乳动物组织中广泛表达,在骨骼肌中表达水平最高。POPDC3在许多生理和病理过程中起着关键作用,被认为是癌症的候选生物标志物和潜在治疗靶标。此外,POPDC3基因变体与26型肢体带型肌营养不良(LGMD)有关。然而,关于POPDC3,相互作用蛋白的生物学作用的研究很少,潜在的下游目标,和调节信号通路。因此,本文综述了POPDC3蛋白的结构,相互作用的分子,以及在癌症中的作用和机制,在心肌和骨骼肌中,并对目前POPDC3的研究进展进行综述,提出未来可能的研究方向。本文受版权保护。保留所有权利。
    The Popeye domain-containing protein 3 (POPDC3), a transmembrane protein with a unique cyclic adenosine monophosphate (cAMP) binding site, is widely expressed in mammalian tissues, with the highest levels of expression in skeletal muscle. POPDC3 plays a key role in many physiological and pathological processes and is considered a candidate biomarker and potential therapeutic target of cancer. In addition, POPDC3 gene variants have been associated with limb-girdle muscular dystrophy (LGMD) type 26. However, there are only a few studies on the biological role of POPDC3, interacting proteins, potential downstream targets, and regulated signaling pathways. Therefore, this review focuses on the structure of POPDC3 protein, interacting molecules, and the role and mechanism in cancer, and in cardiac and skeletal muscle, and to review the current research progress of POPDC3 and propose possible future study directions.
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  • 文章类型: Journal Article
    四肢肌营养不良症(LGMD)包括一组异质性疾病,影响不同的肌肉,主要是身体的骨骼肌和心肌。LGMD分为两种主要亚型A和B,进一步细分为8个显性和30个隐性亚型。三个基因,即POPDC1,POPDC2和POPDC3,编码含硬岩结构域的蛋白(POPDC),POPDC1和POPDC3基因的变体与LGMD相关。
    在本研究中,我们对单个家族进行了全外显子组测序(WES)分析,以研究LGMD的标志性特征.通过Sanger测序进一步证实了WES的结果,并进行了3D蛋白质建模。
    WES数据分析和Sanger测序揭示了在POPDC3中高度保守的氨基酸位置处的纯合错义变体(c.460A>G;p.Lys154Glu)。POPDC3基因的突变先前与26型隐性肢带肌营养不良有关。3D蛋白质建模进一步表明鉴定的变体可能影响POPDC3结构和适当的功能。
    本研究证实了POPDC3在LGMD中的作用,并将促进家庭的遗传咨询,以减轻携带者的风险或对未来怀孕的影响。
    Limb-girdle muscular dystrophy (LGMD) comprises a heterogeneous group of diseases, affecting different muscles, predominantly skeletal muscles and cardiac muscles of the body. LGMD is classified into two main subtypes A and B, which are further subclassified into eight dominant and thirty recessive subtypes. Three genes, namely POPDC1, POPDC2 and POPDC3, encode popeye domain-containing protein (POPDC), and the variants of POPDC1 and POPDC3 genes have been associated with LGMD.
    In the present study, we performed whole-exome sequencing (WES) analysis on a single-family to investigate the hallmark features of LGMD. The results of WES were further confirmed by Sanger sequencing and 3D protein modeling was also conducted.
    WES data analysis and Sanger sequencing revealed a homozygous missense variant (c.460A>G; p.Lys154Glu) at a highly conserved amino acid position in the POPDC3. Mutations in the POPDC3 gene have been previously associated with recessive limb-girdle muscular dystrophy type 26. 3D protein modeling further suggested that the identified variant might affect the POPDC3 structure and proper function.
    The present study confirms the role of POPDC3 in LGMD, and will facilitate genetic counseling of the family to mitigate the risks of the carrier or affects on future pregnancies.
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  • 文章类型: Journal Article
    Limb-girdle muscular dystrophies (LGMDs) are large group of heterogeneous genetic diseases, having a hallmark feature of muscle weakness. Pathogenic mutations in the gene encoding the giant skeletal muscle protein titin (TTN) are associated with several muscle disorders, including cardiomyopathy, recessive congenital myopathies and limb-girdle muscular dystrophy (LGMD) type10. The phenotypic spectrum of titinopathies is expanding, as next generation sequencing (NGS) technology makes screening of this large gene possible.
    This study aimed to identify the pathogenic variant in a consanguineous Pakistani family with autosomal recessive LGMD type 10.
    DNA from peripheral blood samples were obtained, whole exome sequencing (WES) was performed and several molecular and bioinformatics analysis were conducted to identify the pathogenic variant. TTN coding and near coding regions were further amplified using PCR and sequenced via Sanger sequencing.
    Whole exome sequencing analysis revealed a novel homozygous missense variant (c.98807G > A; p.Arg32936His) in the TTN gene in the index patients. No heterozygous individuals in the family presented LGMD features. The variant p.Arg32936His leads to a substitution of the arginine amino acid at position 32,936 into histidine possibly causing LGMD type 10.
    We identified a homozygous missense variant in TTN, which likely explains LGMD type 10 in this family in line with similar previously reported data. Our study concludes that WES is a successful molecular diagnostic tool to identify pathogenic variants in large genes such as TTN in highly inbred population.
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  • 文章类型: Journal Article
    Background: Limb-girdle muscular dystrophy (LGMD) is an increasingly heterogeneous category of inherited muscle diseases, mainly affecting the muscles of shoulder areas and the hip, segregating in both autosomal recessive and dominant manner. To-date, thirty-one loci have been identified for LGMD including seven autosomal dominant (LGMD type 1) and twenty four autosomal recessive (LGMD type 2) inherited loci. Methodology/Laboratory Examination: The present report describes a consanguineous family segregating LGMD2F in an autosomal recessive pattern. The affected individual is an 11-year-old boy having two brothers and a sister. Direct targeted next generation sequencing was performed for the single affected individual (VI-1) followed by Sanger sequencing. Results: Targeted next generation sequencing revealed a novel homozygous nonsense mutation (c.289C>T; p.Arg97∗) in the exon 3 of the delta-sarcoglycan (SGCD) gene, that introduces a premature stop codon (TCA), resulting in a nonsense mediated decay or a truncated protein product. Discussion and Conclusion: This is the first report of LGMD2F caused by an SGCD variant in a Pakistani population. The mutation identified in the present investigation extends the body of evidence implicating the gene SGCD in causing LGMD2F and might help in genetic counseling, which is more important to deliver the risk of carrier or affected in the future pregnancies.
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