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Ultraviolet light-related DNA damage mutation signature distinguishes cutaneous from mucosal or other origin for head and neck squamous cell carcinoma of unknown primary site
摘要： Background: Head and neck squamous cell carcinoma of unknown primary site (HNSCCUP) is a diagnostic challenge. Identification of an ultraviolet (UV) light-related DNA damage signature using next-generation sequencing (NGS) can classify the primary site of origin as cutaneous. Methods: A 62-year-old male was seen with 2 months of left neck swelling. He was a lifetime nonsmoker but had a history of cutaneous squamous cell carcinoma (SCC) of the left helix. He was also found to have left hilar adenopathy. He had a p16-negative HNSCCUP on fine needle aspiration (FNA) biopsy of the left neck. Results: NGS of the FNA specimen revealed a high number of somatic mutations that were mostly C to T transitions, indicating a UV mutation signature and confirming the diagnosis of cutaneous SCC. Conclusions: Identification of a UV DNA damage signature with NGS distinguishes HNSCCUP of cutaneous vs mucosal or other squamous cell carcinoma origin.
关键词： unknown primary squamous cell carcinoma of head and neck,cutaneous tumor mutation burden,next-generation sequencing,ultraviolet light-related DNA damage signature,skin cancer
更新于2025-09-23 15:23:52
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A Pilot Study of F-18 FP-CIT PET Imaging in Early-onset Patients with Parkinson’s Disease: Parkin versus Non-parkin Mutation
摘要： Striatal dopaminergic dysfunction in early-onset Parkinson’s disease (PD) remains to be further elucidated. Thus, as a preliminary study, we aimed to investigate detailed patterns of dopaminergic depletion in five early-onset PD patients with dynamic N-(3-[(18) F]fluoropropyl)-2-carbomethoxy-3-(4-iodophenyl) nortropane (FP-CIT) positron emission tomography (PET) scans. Two patients with parkin mutation showed more symmetric decrease of dopamine transporter (DAT) density in the putamen, whereas others displayed asymmetric reduction of DAT density in the putamen. Notably, only those with parkin mutation revealed more severe dopaminergic deficits in the anteroventral putamen rather than the posterodoral putamen. Our observation suggests, among PD patients, patients with parkin mutation may exhibit the different pattern of striatal dopaminergic depletion.
关键词： Parkinson’s Disease,Parkin Mutation,Early-Onset,Dopamine Depletion
更新于2025-09-23 15:23:52
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A Slow-Wave Structure Optimization with Variable Helix Section Length in STWT Based on CI-NMCSO Algorithm
摘要： A novel slow-wave structure optimization method on Chaos-improved Normal mutation cat swarm optimization (CI-NMCSO) algorithm is proposed. Under the variable helix section length in STWT, the CI-NMCSO combined with 1D CHRISTINE code is used to calculate the best set of pitch distribution and section length with the objective function of electron beam efficiency improvement. Quantum particle swarm optimization (QPSO) and Cauchy mutated cat swarm optimization (CMCSO) algorithms are applied to make performance comparison. Experimental results show that the beam efficiency has been increased by CI-NMCSO from rated value 30% to 45.3%, and the values using CMCSO and QPSO are 41.8% and 36.5%, respectively, the convergence speed of CI-NMCSO is the fastest, only 16 iterations, while CMCSO and QPSO take 19 and 23 iterations, so the performance of CI-NMCSO is better than CMCSO and QPSO on both optimization precision and calculation speed in terms of slow-wave structure optimization, and is also superior to that with equal section length when the helix section length is variable.
关键词： space traveling-wave tube,electron beam efficiency,chaotic transformation,Slow-wave structure,normal mutation cat swarm optimization
更新于2025-09-23 15:22:29
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Sensitive and Direct DNA Mutation Detection by Surface-enhanced Raman Spectroscopy using Rational Designed and Tunable Plasmonic Nanostructures
摘要： Efficient DNA mutation-detection methods are required for diagnosis, personalized therapy development, and prognosis assessment for diseases such as cancer. To address this issue, we proposed a straightforward approach by combining active plasmonic nanostructures, surface enhanced Raman spectroscopy (SERS), and polymerase chain reaction (PCR), with a statistical tool to identify and classify BRAF wild type (WT) and V600E mutant genes. The nanostructures provide enhanced sensitivity, while PCR offers the high specificity towards target DNA. A series of positively charged plasmonic nanostructures including gold/silver nanospheres, nanoshells, nanoflowers and nanostars, were synthesized with a one-pot strategy and characterized. By changing the shape of nanostructures, we are able to vary the surface plasmon resonance from 551 nm to 693 nm. The gold/silver nanostar showed the highest SERS activity, which was employed for DNA mutation detection. We reproducibly analyzed as few as 100 copies of target DNA sequences using gold/silver nanostars, thus demonstrating the high sensitivity of the direct SERS detection. By means of statistical analysis (principal component analysis-linear discriminant analysis, PCA-LDA), this method was successfully applied to differentiate the WT and V600E mutant both from whole genome DNA (gDNA) lysed from cell line and from cell-free DNA (cfDNA) collected from cell culture media. We further proved that this assay is capable of specifically amplifying and accurately classifying a real plasma sample. Thus, this direct SERS strategy combined with the active plasmonic nanostructures has the potential for wide applications as an alternative tool for sensitively monitoring and evaluating clinical important nucleotide biomarkers.
关键词： PCR,statistical analysis,plasmonic nanostructures,surface-enhanced Raman spectroscopy,DNA mutation detection
更新于2025-09-23 15:21:01
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Combined texture analysis of diffusion-weighted imaging with conventional MRI for non-invasive assessment of IDH1 mutation in anaplastic gliomas
摘要： To examine whether texture analysis (TA) of diffusion-weighted imaging (DWI) combined with conventional magnetic resonance imaging (MRI) could non-invasively predict isocitrate dehydrogenase 1 (IDH1) mutational status in anaplastic gliomas.
关键词： anaplastic gliomas,IDH1 mutation,diffusion-weighted imaging,conventional MRI,texture analysis
更新于2025-09-23 15:21:01
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An Experimental Study on Infrared Radiation Characteristics of Sandstone Samples Under Uniaxial Loading
摘要： The failure of surrounding strata in the excavation faces is the root cause of some disasters, including roof caving, coal pillar instability, and water inrushes, during the extraction of coal resource. Identifying the abnormal phenomena and precursor information before rock failure forms an important theoretical foundations of achieving safety operation in coal mines. The infrared radiation (IR) on the surface of rock will change during loading process (Luong 1990; Freund et al. 2007; Gong 2013). By monitoring the IR, the deformation and failure characteristics of rock can be obtained (Sheinin and Blokhin 2012; Mineo and Pappalardo 2016; Sun et al. 2017; Fiorucci et al. 2018), reliable information for predicting rock failure precursors may be obtained, as well (Wu et al. 2015; Salami et al. 2017). In addition, the water content affects the IR characteristics during the failure of rock (Liu et al. 2010). To quantitatively characterize the IR from the rock surface during loading process, Wu (1998) first proposed the index of average infrared radiation temperature (AIRT). Later, Liu et al. (2015), Yang et al. (2017) and Ma et al. (2016) proposed new indexes for quantitative analysis, e.g., variance, entropy, characteristic roughness, euclidean distance, and VDIIT. The previous experimental results revealed that these new indexes could be used to explain a lot of IR phenomena during rock failure (Pappalardo 2017; Zhang et al. 2018). For example, the author have investigated the inherent relation between stress and IR during rock loading (Ma et al. 2017), and found that stress had significant, universal, and hysteretic control effects on IR. However, there are still difficulties during the acquisition of IR mutation data and the estimation of mutation amplitude under loading conditions. Therefore, new appropriate indexes should be proposed for more accurate determination of the quantitative relation between stress and IR. To further investigate the relation between stress and IR, two mutation coefficients, stress rate (SR) and variance of differential infrared image temperature (VDIIT), were adopted in this study. The related IR observation experiments were conducted using samples with different water content, so as to obtain the quantitative relation between stress and IR under uniaxial loading tests.
关键词： Stress rate (SR),Infrared radiation (IR),Control effect,Variance of differential infrared image temperature (VDIIT),Mutation coefficient
更新于2025-09-19 17:15:36
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Performance evaluation of solar absorption-compression cascade refrigeration system with an integrated air-cooled compression cycle
摘要： Hidradenitis suppurativa (HS), also known as acne inversa, is a chronic inflammatory skin disorder affecting apocrine gland-bearing areas of the body. Although the precise pathogenesis of HS is unclear, genetic mutation may one important factor. Recently, loss-of-function mutations of nicastrin (NCSTN), a subunit of γ-secretase, are detected in some familial HS patients. In 2016, we reported that the expression of both AKT and its activated form phosphorylated-AKT (p-AKT) is up-regulated in NCSTN-silencing HaCaT cells. But how defective NCSTN affected AKT is still unknown. MicroRNAs (miRNAs) are small noncoding RNAs functioning as biological regulators in some skin diseases. In previous study, we found that miR-100-5p was down-regulated in both familial HS and keratinocyte specific-NCSTN-knockout (NcstnΔKC) mice. As AKT-related pathway is one target of miR-100-5p, whether decreased miR-100-5p expression could affect skin cells through this pathway in familial HS with NCSTN mutation remains to be proved. Here, we investigated the effect of miR-100-5p on AKT to influence skin keratinocyte proliferation in the presence of NCSTN mutation.
关键词： miR-100-5p,AKT,keratinocyte proliferation,NCSTN mutation,Hidradenitis suppurativa
更新于2025-09-11 14:15:04
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Classified perturbation mutation based particle swarm optimization algorithm for parameters extraction of photovoltaic models
摘要： With the increasing demand for solar energy, accurate, reliable, and efficient parameters extraction of photovoltaic models is becoming more significant and difficult. Accordingly, a more accurate and robust algorithm is continuously needed for this problem. To this end, a classified perturbation mutation based particle swarm optimization algorithm is proposed in this paper. During each generation of the proposed algorithm, the performance of each updated personal best position is evaluated and quantified to be a high-quality or low-quality. Then, for the high-quality personal best position, a mutation strategy with smaller perturbation is developed to enhance the local search ability within the promising search area. For the low-quality personal best position, a bigger perturbation mutation strategy is designed to explore different regions for improving the population diversity. Furthermore, the damping bound handling strategy is employed to mitigate the issue of falling into local optimal. The effectiveness of the proposed algorithm is evaluated by extracting parameters of five different photovoltaic models, and also tested on photovoltaic models under different conditions. Experiment results comprehensively demonstrate the superiority of the proposed algorithm compared with other well-established parameters extraction methods in terms of accuracy, stability, and rapidity.
关键词： Perturbation mutation,Photovoltaic models,Particle swarm optimization,Parameters extraction
更新于2025-09-11 14:15:04
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Concordance of KRAS mutation status between luminal and peripheral regions of primary colorectal cancer. A laser-capture microdissection-based study
摘要： The presence of KRAS mutation in colorectal cancer (CRC) is a marker of resistance to anti-EGFR therapy. However, there are conflicting reports concerning intratumoral heterogeneity of KRAS mutations. The aim of this study was to determine whether within primary CRCs with KRAS mutations intratumoral KRAS mutation heterogeneity can be detected between two strictly defined areas, i.e. the luminal (mucosa/submucosa) and peripheral invasive front of the tumor. Using laser-capture microdissection, from every tumor about 400-500 nests of cancer cells were excised from each of the examined areas (luminal and peripheral) and PNAClamp, a high-sensitivity real-time PCR-based diagnostic assay for KRAS mutation testing, was used for molecular analysis. KRAS mutations were detected in codon 12 in both luminal and peripheral regions in all tumors examined. We conclude that from the point of view of practical KRAS mutation testing for predictive purposes in patients with CRC (i.e. testing mutations in codons 12 and 13) sampling errors are unlikely to occur if in CRCs with KRAS mutations only the luminal (as in biopsy tissue) or peripheral region is examined, provided a sensitive system of detection is applied and an appropriate number of tumor cells with minimal contamination by benign cells is analyzed.
关键词： laser microdissection,KRAS mutation,colorectal cancer,KRAS intratumoral homogeneity
更新于2025-09-11 14:15:04
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A novel CRX variant (p.R98X) is identified in a Chinese family of Retinitis pigmentosa with atypical and mild manifestations
摘要： Background Retinitis pigmentosa (RP) is the most common form of hereditary retinal degeneration that can cause inherited blindness. RP has extreme genetic and clinical heterogeneity, which brings a major obstacle to obtaining an accurate molecular diagnosis. Objective To analyze the genetic defect in a Chinese family of RP with a few atypical manifestations. Methods Whole-exome sequencing (WES) was applied to identify the disease-associated genes. Sanger sequencing was performed to validate the variants of candidate genes in the patient and his parents. In vitro expression analysis was further conducted to examine the potential biological function of the gene variant. Results A heterozygous nonsense variant c.292C > T (p.R98X) of CRX gene was identified to be present in the affected male. The c.292C > T variant of CRX was absent in all of the searched databases, including the 10,000 Chinese exome database. The nonsense variant was supposed to result in a truncated CRX protein with a destroyed homedomain (HD), which is essential for CRX translation. Interestingly, the following assay showed that the potential truncated protein was not detected, indicating that the variant may cause a loss-of-function mutation of CRX gene. Conclusion We identified a novel heterozygous null mutation in the CRX gene which was the first evidence of a nonsense mutation in the HD domain of CRX. Our finding suggested that the haploinsufficiency mutation of CRX gene contributed to the atypical and mild manifestations of the autosomal dominant RP in the Chinese family.
关键词： Retinitis pigmentosa (RP),Nonsense mutation,Whole exome sequence,CRX
更新于2025-09-11 14:15:04