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The rise of complex high-rise buildings has made building management increasingly challenging, especially the nighttime supervision of university laboratories. Idle occupation increases the risk of accidents and undermines campus sustainability. Effective occupancy detection is essential for optimizing campus building safety and energy efficiency. Environmental sensors for occupancy detection offer limited coverage and are costly, making them unsuitable for campuses. Surveillance cameras, as part of campus infrastructure, provide wide coverage. On this basis, we designed a detection algorithm that uses light brightness to assess nighttime building use. Experimental results showed that the algorithm achieves an average accuracy of 98.67%, enabling large-scale nighttime occupancy detection without the need for installing additional sensors, significantly improving the efficiency of campus building management. In addition, to address the limitations of indoor space representation in geographic information system (GIS) management models, this paper developed a comprehensive 3D GIS model based on a "building–floor–room" hierarchical structure, utilizing oblique photogrammetry and laser scanning technology. This study combined the detection results with real-world 3D data for visualization, providing a new perspective for the 3D spatiotemporal refinement of complex high-rise buildings, and providing a reference framework for the detection and analysis of other types of building environments. [ABSTRACT FROM AUTHOR]

Objective: The transcriptional heterogeneity at a single‐nucleus level in human Becker muscular dystrophy (BMD) dystrophic muscle has not been explored. Here, we aimed to understand the transcriptional heterogeneity associated with myonuclei, as well as other mononucleated cell types that underly BMD pathogenesis by performing single‐nucleus RNA sequencing. Methods: We profiled single‐nucleus transcriptional profiles of skeletal muscle samples from 7 BMD patients and 3 normal controls. Results: A total of 17,216 nuclei (12,879 from BMD patients and 4,337 from controls) were classified into 13 known cell types, including 9 myogenic lineages and 4 non‐myogenic lineages, and 1 unclassified nuclear type according to their cell identities. Among them, type IIx myonuclei were the first to degenerate in response to dystrophin reduction. Differential expression analysis revealed that the fibro‐adipogenic progenitors (FAPs) population had the largest transcriptional changes among all cell types. Sub‐clustering analysis identified a significantly compositional increase in the activated FAPs (aFAPs) subpopulation in BMD muscles. Pseudotime analysis, regulon inference, and deconvolution analysis of bulk RNA‐sequencing data derived from 29 BMD patients revealed that the aFAPs subpopulation, a distinctive and previously unrecognized mononuclear subtype, was profibrogenic and expanded in BMD patients. Muscle quantitative real‐time polymerase chain reaction and immunofluorescence analysis confirmed that the mRNA and protein levels of the aFAPs markers including LUM, DCN, and COL1A1 in BMD patients were significantly higher than those in controls, respectively. Interpretation: Our results provide insights into the transcriptional diversity of human BMD muscle at a single‐nucleus resolution and new potential targets for anti‐fibrosis therapies in BMD. ANN NEUROL 2024;96:1070–1085 [ABSTRACT FROM AUTHOR]

Background and Purpose: The substantial role of inflammation in amyotrophic lateral sclerosis (ALS) is gaining support from recent research. Studies indicate that circulating cell‐free mitochondrial DNA (ccf‐mtDNA) can activate the immune system and is associated with neurodegenerative diseases. This research was designed to quantify ccf‐mtDNA levels in the serum of ALS patients. Methods: The medical records of ALS patients were reviewed. Serum ccf‐mtDNA levels of patients with ALS (n = 62) and age‐matched healthy controls (n = 46) were measured and compared. Additionally, serum interleukin‐6 (IL‐6) levels were measured using an enzyme‐linked immunosorbent assay in 26 ALS patients. Correlations between variables were analyzed. Results: Serum ccf‐mtDNA was notably higher in the patients with ALS. When stratified by genotype, the superoxide dismutase 1 (SOD1) mutation group showed the greatest increase in ccf‐mtDNA levels relative to other ALS patients. Among all 108 individuals, a cut‐off set at 1.1 × 105 mtDNA copies on a receiver‐operating characteristic curve identified patients with ALS with 80.7% sensitivity and 50.0% specificity; the area under the curve was 0.69 (p < 0.001). Furthermore, serum ccf‐mtDNA levels correlated negatively with the progression rate of ALS (ΔFS; rs = −0.26, p = 0.044), but not the ALSFRS‐R score (rs = 0.06, p = 0.625). Importantly, the correlation between ccf‐mtDNA and ΔFS was more pronounced in the SOD1 mutation group (rs = −0.62, p = 0.018). Lastly, a significant positive association was observed between serum ccf‐mtDNA levels and IL‐6 levels in ALS (r s= 0.41, p = 0.038). Conclusion: Our study found increased serum ccf‐mtDNA in ALS patients, suggesting a link to inflammatory processes and disease mechanism. Moreover, ccf‐mtDNA could be an indicator for ALS progression, especially in those with the SOD1 mutation. [ABSTRACT FROM AUTHOR]

The mutations of the feline leukemia virus subgroup C receptor‐related protein 1 (FLVCR1) cause ataxia with retinitis pigmentosa. Recent studies indicated a large variation in the phenotype of FLVCR1‐associated diseases. In this report, we describe an adult male who manifested first with tremors in his third decade, followed by retinitis pigmentosa, sensory ataxia, and sensory neuropathy in his fourth decade. While retinitis pigmentosa and sensory ataxia are well‐recognized features of FLVCR1‐associated disease, tremor is rarely described. Whole‐exome sequencing revealed novel compound heterozygous pathogenic FLVCR1 variants: c.498 G > A; p.(Trp166*) and c.369 T > G; p.(Phe123Leu). In addition, we have highlighted the ultrastructural abnormalities of the sural biopsy in this patient. [ABSTRACT FROM AUTHOR]

• Muscle biopsy-based dystrophin mRNA and protein studies are essential for the identification of deep-intronic DMD variants. • The novel variant (c.5325+1759G>T) is the third deep-intronic DMD variant activating a dystrophin pseudoexon due to branch point alterations. • Our study highlights the significant role of branch point alterations in the pathogenesis of monogenic diseases. Deep-intronic variants that create or enhance a splice site are increasingly reported as a significant cause of monogenic diseases. However, deep-intronic variants that activate pseudoexons by affecting a branch point are extremely rare in monogenic diseases. Here, we describe a novel deep-intronic DMD variant that created a branch point in a Duchenne muscular dystrophy (DMD) patient. A 7.0-year-old boy was enrolled because he was suspected of DMD based on his clinical, muscle imaging, and pathological features. Routine genetic testing did not discover a pathogenic DMD variant. We then performed muscle-derived dystrophin mRNA analysis and detected an aberrant pseudoexon-containing transcript. Further genomic Sanger sequencing and bioinformatic analyses revealed a novel deep-intronic splicing variant in DMD (NM_004006.2:c.5325+1759G>T), which created a new branch point sequence and thus activated a new dystrophin pseudoexon (NM_004006.2:r.5325_5326ins5325+1779_5325+1855). Our study highlights the significant role of branch point alterations in the pathogenesis of monogenic diseases. [ABSTRACT FROM AUTHOR]

Background: Progressive external ophthalmoplegia (PEO) is a common subtype of mitochondrial encephalomyopathy. Objective: The study aimed to investigate the relationship between mitochondrial DNA (mtDNA) abnormalities, muscle pathology, and clinical manifestations in Chinese patients with single large‐scale mtDNA deletion presenting with PEO. Methods: This is a retrospective single‐center study. Patients with PEO who had a single large deletion in mitochondrial DNA were included in this study. The associations were analyzed between mtDNA deletion patterns, myopathological changes, and clinical characteristics. Results: In total, 155 patients with mitochondrial PEO carrying single large‐scale mtDNA mutations were enrolled, including 137 chronic progressive external ophthalmoplegia (CPEO) and 18 Kearns–Sayre syndrome (KSS) patients. The onset ages were 9.61 ± 4.12 in KSS and 20.15 ± 9.06 in CPEO. The mtDNA deletions ranged from 2225 bp to 9131 bp, with m.8470_13446del being the most common. The KSS group showed longer deletions than the CPEO group (p = 0.004). Additionally, a higher number of deleted genes encoding respiratory chain complex subunits (p = 0.001) and tRNA genes (p = 0.009) were also observed in the KSS group. A weak negative correlation between the mtDNA deletion size and ages of onset (p < 0.001, r = −0.369) was observed. The proportion of ragged red fibers, ragged blue fibers, and cytochrome c negative fibers did not correlate significantly with onset ages (p > 0.05). However, a higher percentage of abnormal muscle fibers corresponds to an increased prevalence of exercise intolerance, limb muscle weakness, dysphagia, and cerebellar ataxia. Conclusion: We reported a large Chinese cohort consisting of mitochondrial PEO patients with single large‐scale mtDNA deletions. Our results demonstrated that the length and locations of mtDNA deletions may influence onset ages and clinical phenotypes. The severity of muscle pathology could not only indicate diagnosis but also may be associated with clinical manifestations beyond the extraocular muscles. [ABSTRACT FROM AUTHOR]