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Keywords = optimized LGMD

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14 pages, 1495 KB  
Article
Genetic and Clinical Spectrum of Limb–Girdle Muscular Dystrophies in Western Sicily
by Nicasio Rini, Antonino Lupica, Paolo Alonge, Grazia Crescimanno, Antonia Pignolo, Christian Messina, Sandro Santa Paola, Marika Giuliano, Eugenia Borgione, Mariangela Lo Giudice, Carmela Scuderi, Vincenzo Di Stefano and Filippo Brighina
Genes 2025, 16(8), 987; https://doi.org/10.3390/genes16080987 - 21 Aug 2025
Viewed by 859
Abstract
Background and Objectives: Limb–girdle muscular dystrophies (LGMDs) are a group of muscular dystrophies characterized by predominantly proximal-muscle weakness, with a highly heterogeneous genetic etiology. Despite recent efforts, the epidemiology of LGMDs is still under-evaluated. However, a better understanding of the distribution and genetic [...] Read more.
Background and Objectives: Limb–girdle muscular dystrophies (LGMDs) are a group of muscular dystrophies characterized by predominantly proximal-muscle weakness, with a highly heterogeneous genetic etiology. Despite recent efforts, the epidemiology of LGMDs is still under-evaluated. However, a better understanding of the distribution and genetic characteristics of LGMDs is required to optimize the diagnostic process and to address future research. Therefore, the aim of the present study is to investigate and identify new pathogenic variants, to better characterize LGMDs in Sicily. Methods: We enrolled patients with genetic and clinical diagnosis of LGMD referred to our clinic between the years 2019 and 2025. A targeted next-generation-sequencing (NGS) panel was performed, based on the reported disease frequency. A retrospective analysis of the clinical, laboratory, electrophysiological, and histological features was performed. Results: A total of 28 LGMDs patients aged 56.6 years (47.2–60.5 IQR) were identified (16 males, 57%). A molecular diagnosis was achieved in 24 (85.7%) of patients, most commonly carrying mutations in CAPN3 (14 patients, 50%), followed by DYSF, LAMA2, ANO5, FKTN and TTN genes. Pathogenic variants in CAPN3 and LAMA2 were associated with earlier onset and longer disease duration, whereas ANO5 presented later with a milder course. Cardiac involvement was observed more frequently in patients with LAMA2 and FKTN mutations. Association between heterozygous mutations in the CAPN3 and DYSF, as well as between CAPN3 and DMD variants were reported. Discussion: The findings of this study provide valuable insights into the epidemiology of LGMDs in the Western Sicily, offering important contributions to genotype–phenotype correlations. Our analysis highlights the role of genetic diagnosis in achieving accurate classification of the disease and optimizing clinical management. Full article
(This article belongs to the Section Human Genomics and Genetic Diseases)
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22 pages, 20719 KB  
Article
A Computationally Efficient Neuronal Model for Collision Detection with Contrast Polarity-Specific Feed-Forward Inhibition
by Guangxuan Gao, Renyuan Liu, Mengying Wang and Qinbing Fu
Biomimetics 2024, 9(11), 650; https://doi.org/10.3390/biomimetics9110650 - 22 Oct 2024
Cited by 1 | Viewed by 1835
Abstract
Animals utilize their well-evolved dynamic vision systems to perceive and evade collision threats. Driven by biological research, bio-inspired models based on lobula giant movement detectors (LGMDs) address certain gaps in constructing artificial collision-detecting vision systems with robust selectivity, offering reliable, low-cost, and miniaturized [...] Read more.
Animals utilize their well-evolved dynamic vision systems to perceive and evade collision threats. Driven by biological research, bio-inspired models based on lobula giant movement detectors (LGMDs) address certain gaps in constructing artificial collision-detecting vision systems with robust selectivity, offering reliable, low-cost, and miniaturized collision sensors across various scenes. Recent progress in neuroscience has revealed the energetic advantages of dendritic arrangements presynaptic to the LGMDs, which receive contrast polarity-specific signals on separate dendritic fields. Specifically, feed-forward inhibitory inputs arise from parallel ON/OFF pathways interacting with excitation. However, none of the previous research has investigated the evolution of a computational LGMD model with feed-forward inhibition (FFI) separated by opposite polarity. This study fills this vacancy by presenting an optimized neuronal model where FFI is divided into ON/OFF channels, each with distinct synaptic connections. To align with the energy efficiency of biological systems, we introduce an activation function associated with neural computation of FFI and interactions between local excitation and lateral inhibition within ON/OFF channels, ignoring non-active signal processing. This approach significantly improves the time efficiency of the LGMD model, focusing only on substantial luminance changes in image streams. The proposed neuronal model not only accelerates visual processing in relatively stationary scenes but also maintains robust selectivity to ON/OFF-contrast looming stimuli. Additionally, it can suppress translational motion to a moderate extent. Comparative testing with state-of-the-art based on ON/OFF channels was conducted systematically using a range of visual stimuli, including indoor structured and complex outdoor scenes. The results demonstrated significant time savings in silico while retaining original collision selectivity. Furthermore, the optimized model was implemented in the embedded vision system of a micro-mobile robot, achieving the highest success ratio of collision avoidance at 97.51% while nearly halving the processing time compared with previous models. This highlights a robust and parsimonious collision-sensing mode that effectively addresses real-world challenges. Full article
(This article belongs to the Special Issue Bio-Inspired and Biomimetic Intelligence in Robotics: 2nd Edition)
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