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Background: Sepsis is a high mortality disease which seriously threatens human life and health, for which the pathogenetic mechanism still unclear. There is increasing evidence showed that immune and inflammation responses are key players in the development of sepsis pathology. LncRNAs, which act as ceRNAs, have critical roles in various diseases. However, the regulatory roles of ceRNA in the immunopathogenesis of sepsis have not yet been elucidated. Results: In this study, we aimed to identify immune biomarkers associated with sepsis. We first generated a global immune-associated ceRNA (IMCE) network based on data describing interactions pairs of gene–miRNA and miRNA–lncRNA. Afterward, we excavated a dysregulated sepsis immune-associated ceRNA (SPIMC) network from the global IMCE network by means of a multi-step computational approach. Functional enrichment indicated that lncRNAs in SPIMC network have pivotal roles in the immune mechanism underlying sepsis. Subsequently, we identified module and hub genes (CD4 and STAT4) via construction of a sepsis immune-related PPI network. Then, we identified hub genes based on the modular structure of PPI network and generated a ceRNA subnetwork to analyze key lncRNAs associated with sepsis. Finally, 6 lncRNAs (LINC00265, LINC00893, NDUFA6-AS1, NOP14-AS1, PRKCQ-AS1 and ZNF674-AS1) that identified as immune biomarkers of sepsis. Moreover, the CIBERSORT algorithm and the infiltration of circulating immune cells types were performed to identify the inflammatory state of sepsis. Correlation analyses between immune cells and sepsis immune biomarkers showed that the LINC00265 was strongly positive correlated with the macrophages M2 (r = 0.77). Conclusion: Collectively, these results may suggest that these lncRNAs (LINC00265, LINC00893, NDUFA6-AS1, NOP14-AS1, PRKCQ-AS1 and ZNF674-AS1) played important roles in the immune pathogenesis of sepsis and provide potential therapeutic targets for further researches on immune therapy treatment in patients with sepsis. [ABSTRACT FROM AUTHOR]

Objective: The goal of this study is to investigate the efficacy, safety, and mechanism of ABL for inactivating Candida albicans (C. albicans), and to determine the best wavelength for treating candida infected disease, by experimental measurements and dynamic modeling. Methods: The changes in reactive oxygen species (ROS) in C. albicans and human host cells under the irradiation of 385, 405, and 415 nm wavelengths light with irradiance of 50 $mW/cm^2$ were measured. Moreover, a kernel-based nonlinear dynamic model, i.e., nonlinear autoregressive with exogenous inputs (NARX), was developed and applied to predict the concentration of light-induced ROS, whose kernels were selected by a newly developed algorithm based on particle swarm optimization (PSO). Results: The ROS concentration was increased respectively about 10-12 times in C. albicans and about 3-6 times in human epithelial cells by the ABL treatment with the same fluence of 90 $J/cm^2$. The NARX models were respectively fitted to the data from the experiments on both types of cells. Besides, four different kernel functions, including Gaussian, Laplace, linear and polynomial kernels, were compared in their fitting accuracies. The errors with the Laplace kernel turned out to be only 0.2704 and 0.0593, as respectively fitted to the experimental data of the C. albicans and human host cells. Conclusion: The results demonstrated the effectiveness of the NARX modeling approach, and revealed that the 415 nm light was more effective as an anti-fungal treatment with less damage to the host cells than the 405 or 385 nm light. Significance: The kernel-based NARX model identification algorithm offers opportunities for determining the effective and safe light dosages in treating various fungal infection diseases. [ABSTRACT FROM AUTHOR]

Myasthenia gravis (MG) is a complex neurological autoimmune disease with a pathogenetic mechanism that has yet to be elucidated. Emerging evidence has revealed that genes, non-coding RNAs and genetic variants play significant roles in the pathogenesis of MG. However, the molecular mechanisms of single nucleotide polymorphisms (SNPs) located on lncRNAs could disturb lncRNA-mediated ceRNA regulatory functions still unclear in MG. In this study, we collated 276 experimentally confirmed MG risk genes and 192 MG risk miRNAs. We then constructed a lncRNA-mediated ceRNA network for MG based on multi-step computational strategies. Next, we systematically integrated risk pathways and identified candidate SNPs in lncRNAs for MG based on data acquired from public databases. In addition, we constructed a pathway-based lncRNA-SNP mediated network (LSPN) that contained 128 lncRNAs targeting 8 MG risk pathways. By analyzing network, we propose a latent mechanism for how the "lncRNA-SNP-mRNA-pathway" axis affects the pathogenesis of MG. Moreover, 25 lncRNAs and 51 SNPs on lncRNAs were extracted from the "lncRNA-SNP-mRNA-pathway" axis. Finally, functional analyses demonstrated lncRNA-SNPs mediated ceRNA regulation pairs associated with MG participated in the MAPK signaling pathway. In summary, we constructed MG-specific lncRNA-SNPs mediated ceRNA regulatory networks based on pathway in the present study, which was helpful to elucidate the roles of lncRNA-SNPs in the pathogenesis of MG and provide novel insights into mechanism of lncRNA-SNPs as potential genetic risk biomarkers of MG. [ABSTRACT FROM AUTHOR]

With the growing scale of pre-trained language models (PLMs), full parameter fine-tuning becomes prohibitively expensive and practically infeasible. Therefore, parameter-efficient adaptation techniques for PLMs have been proposed to learn through incremental updates of pre-trained weights, such as in low-rank adaptation (LoRA). However, LoRA relies on heuristics to select the modules and layers to which it is applied, and assigns them the same rank. As a consequence, any fine-tuning that ignores the structural information between modules and layers is suboptimal. In this work, we propose structure-aware low-rank adaptation (SaLoRA), which adaptively learns the intrinsic rank of each incremental matrix by removing rank-0 components during training. We conduct comprehensive experiments using pre-trained models of different scales in both task-oriented (GLUE) and task-agnostic (Yelp and GYAFC) settings. The experimental results show that SaLoRA effectively captures the structure-aware intrinsic rank. Moreover, our method consistently outperforms LoRA without significantly compromising training efficiency. [ABSTRACT FROM AUTHOR]

Adding the Z‐source inverter into wireless power transfer systems helps to offer more control strategies due to its extra state than the traditional inverter. However, the parameters of the system should be strictly designed, otherwise the system will malfunction. The malfunction issue and factor's causing it are described accordingly. Suggestions on the design parameters of the system are provided. To verify the analysis, simulation results of the proposed system are added. [ABSTRACT FROM AUTHOR]

Background: Long non-coding RNAs (lncRNAs), functioning as competing endogenous RNAs (ceRNAs), have been reported to play important roles in the pathogenesis of autoimmune diseases. However, little is known about the regulatory roles of lncRNAs underlying the mechanism of myasthenia gravis (MG). The aim of the present study was to explore the roles of lncRNAs as ceRNAs associated with the progression of MG.Methods: MG risk genes and miRNAs were obtained from public databases. Protein-protein interaction (PPI) network analysis and module analysis were performed. A lncRNA-mediated module-associated ceRNA (LMMAC) network, which integrated risk genes in modules, risk miRNAs and predicted lncRNAs, was constructed to systematically explore the regulatory roles of lncRNAs in MG. Through performing random walk with restart on the network, HCG18/miR-145-5p/CD28 ceRNA axis was found to play important roles in MG, potentially. The expression of HCG18 in MG patients was detected using RT-PCR. The effects of HCG18 knockdown on cell proliferation and apoptosis were determined by CCK-8 assay and flow cytometry. The interactions among HCG18, miR-145-5p and CD28 were explored by luciferase assay, RT-PCR and western blot assay.Results: Based on PPI network, we identified 9 modules. Functional enrichment analyses revealed these modules were enriched in immune-related signaling pathways. We then constructed LMMAC network, containing 25 genes, 50 miRNAs, and 64 lncRNAs. Through bioinformatics algorithm, we found lncRNA HCG18 as a ceRNA, might play important roles in MG. Further experiments indicated that HCG18 was overexpressed in MG patients and was a target of miR-145-5p. Functional assays illustrated that HCG18 suppressed Jurkat cell apoptosis and promoted cell proliferation. Mechanistically, knockdown of HCG18 inhibited the CD28 mRNA and protein expression levels in Jurkat cells, while miR-145-5p inhibitor blocked the reduction of CD28 expression induced by HCG18 suppression.Conclusion: We have reported a novel HCG18/miR-145-5p/CD28 ceRNA axis in MG. Our findings will contribute to a deeper understanding of the molecular mechanism of and provide a novel potential therapeutic target for MG. [ABSTRACT FROM AUTHOR]

Conventional high-power wireless power transfer (WPT) systems that are required to deliver power over a wide operating range suffer from issues like hard switching, poor current sharing, and unwanted cross-coupling issues. This article proposes a new resonant inductor integrated-transformer-based multi-inverter to improve the WPT power rating without compromising performance. Viable modulation schemes of the proposed system are analyzed, and a hybrid modulation scheme is proposed for wide-range power regulation. To further investigate the feasibility of the proposed system, the power transfer capacity, current sharing among multiple inverters, and the soft switching regions are studied. A 14-kW LCC–LCC WPT experimental system with three parallel inverters is built, which achieves 93.5% efficiency, demonstrating the high performance of the proposed system. This article is accompanied by a video demonstrating these experiments. [ABSTRACT FROM AUTHOR]

The gradual increase in cattle farming has led to a huge production of cattle manure (CM), but the conventional treatment methods are less efficient. In this study, the treatment method of anaerobic digestion (AD) of high-solids CM by combining nanobubble water (NBW) with different gases was proposed to present a new idea for the reduction, harmlessness, and resourcefulness of CM. It was found that the performance of the digester with added NBW was better than the control. Among them, the cumulative methane yield T-Air: 227.09 mL g−1 VS added and T-CO 2 : 226.12 mL g−1 VS added increased by 17.72 % and 17.22 %, respectively, compared with the control T: 192.90 mL g−1 VS added under thermophilic conditions. Under mesophilic conditions, M-Air: 162.39 mL g−1 VS added increased by 9.68 % compared with control M: 148.05 mL g−1 VS added. Microbial communities analyzed at the genus level revealed that the relative abundance of bacteria favorable to hydrolysis and acid-producing processes, such as Defluviitalea , Haloplasma , and Bacillus , increased to varying degrees. Moreover, the relative abundance of archaea favorable for methanogenesis, such as Methanoculleus , Methanobrevibacter , and Methanosarcina , also increased to varying degrees. Therefore, the addition of NBW promoted the hydrolysis of high-solids CM, enhanced the stability of the reaction, improved the methanogenic performance, and increased the RA of favorable genera, which ultimately led to a better performance of the AD of high-solids CM. [Display omitted] • Compared with control, NBW increased CH 4 production by 5–17 %. • Compared with control, NBW contributes to the production/transformation of VFAs. • Incorporation of NBW improves stability of high solids anaerobic digestion. • Compared with control, NBW increased the RA of hydrolytic acidification-associated bacteria. • Compared with control, NBW increased the RA of methanogenic-associated archaea. [ABSTRACT FROM AUTHOR]

The prognostic and therapeutic implications in diffuse gliomas are still challenging. In this study, we first performed an integrative framework to infer the clonal status of mutations in glioblastomas (GBMs) and low-grade gliomas (LGGs) by using exome sequencing data from TCGA and observed both clonal and subclonal mutations for most mutant genes. Based on the clonal status of a given gene, we systematically investigated its prognostic value in GBM and LGG, respectively. Focusing on the subclonal mutations, our results showed that they were more likely to contribute to the poor prognosis, which could be hardly figured out without considering clonal status. These risk subclonal mutations were associated with some specific genomic features, such as genomic instability and intratumor heterogeneity, and their accumulation could enhance the prognostic value. By analyzing the regulatory mechanisms underlying the risk subclonal mutations, we found that the subclonal mutations of AHNAK and AHNAK2 in GBM and those of NF1 and PTEN in LGG could influence some important molecules and functions associated with glioma progression. Furthermore, we dissected the role of risk subclonal mutations in tumor evolution and found that advanced subclonal mutations showed poorer overall survival. Our study revealed the importance of clonal status in prognosis analysis, highlighting the role of the subclonal mutation in glioma prognosis. [ABSTRACT FROM AUTHOR]

To enhance the dewaterability of anaerobic digested sludge and to make full use of the biogas slurry. This study set up five sludge conditioning methods: polymeric ferric sulfate, polymeric aluminum chloride, cationic polyacrylamide, chitosan, and chitosan combined with rice husk powder. Their effects on the dewaterability of thermal hydrolysis-anaerobic digested sludge, bacterial community, and biogas slurry fertility were studied to find a non-toxic and non-risk dewatering technology for the environment and biogas slurry. Compared with that of the control group, moisture content, normalization capillary suction time, and specific resistance to filtration were reduced by 12.8%, 97.7%, and 82.9%, respectively. Chitosan enlarges the sludge flocs and forms complexes with proteins, disrupting the structure of the extracellular polymeric substances, thereby exposing more hydrophobic groups and reducing the hydrophilicity of the sludge. The subsequent addition of rice husk powder enhances the adsorption of hydrophilic substances and provides a stronger drainage channel for the sludge. In addition, the biogas slurry obtained by this conditioning method used as a fertilizer increased the dry weight and fresh weight of corn seedlings by 59.3% and 91.0%, respectively. And the total chlorophyll content increased by 84.6%. Pearson's correlation analysis showed that chitosan and rice husk meal had no toxic effect on the biogas slurry compared to the other three flocculants. The results showed that the combined treatment of chitosan and rice husk powder resulted in the best dewaterability. Overall, chitosan combined with rice husk powder is a green dewatering technology with great potential for anaerobic digested sludge dewatering and biogas slurry recycling. [Display omitted] • Compared with control, CS+RHP reduced SRF and NCST of sludge by 82.9% and 97.7%. • Compared with PFS, PAC, and CPAM, CS is better for plant growth promotion. • Compared with control, dry weight of corn seedling in CS+RHP increased by 59.3%. • Compared with control, total chlorophyll of seedling in CS+RHP increased by 84.6%. [ABSTRACT FROM AUTHOR]

The nervous system is one of the most complex biological systems, and nervous system disease (NSD) is a major cause of disability and mortality. Extensive evidence indicates that numerous dysregulated microRNAs (miRNAs) are involved in a broad spectrum of NSDs. A comprehensive review of miRNA-mediated regulatory will facilitate our understanding of miRNA dysregulation mechanisms in NSDs. In this work, we summarized currently available databases on miRNAs and NSDs, star NSD miRNAs, NSD spectrum width, miRNA spectrum width and the distribution of miRNAs in NSD sub-categories by reviewing approximately 1000 studies. In addition, we characterized miRNA–miRNA and NSD–NSD interactions from a network perspective based on miRNA–NSD benchmarking data sets. Furthermore, we summarized the regulatory principles of miRNAs in NSDs, including miRNA synergistic regulation in NSDs, miRNA modules and NSD modules. We also discussed computational challenges for identifying novel miRNAs in NSDs. Elucidating the roles of miRNAs in NSDs from a network perspective would not only improve our understanding of the precise mechanism underlying these complex diseases, but also provide novel insight into the development, diagnosis and treatment of NSDs. [ABSTRACT FROM AUTHOR]

Background: The status of axillary lymph nodes (ALNs) is one of the important factors in decision‐making for breast cancer treatment. Physical examination (PE) has long been the main, or even the only, means of clinical staging for ALNs in breast cancer. However, the sensitivity and accuracy of PE remains unsatisfactory. The results from this study suggest that axillary ultrasonography (US) should replace PE as a standard method for the clinical staging of ALNs in breast cancer. Methods: Consecutive and nonselective breast cancer patients treated between September 2018 and November 2018 in our center were enrolled in the study. Comparisons of ALN results between PE/US and pathological results were conducted and the difference in sensitivity, specificity and accuracy between PE and US were tested by McNemar chi‐square test. Results: A total of 123 patients were enrolled into the study. Their ages ranged from 28 to 76 years with a median age of 53 ± 10. There were 83 ALN positive cases and 40 ALN negative cases confirmed pathologically. The sensitivity, specificity, accuracy, positive predictive value and negative predictive value of PE and US were 54.2%, 90.0%, 65.9%, 91.8%, 48.7% versus 86.8%, 72.5%, 82.1%, 86.8%, 72.5%, respectively. The sensitivity and accuracy of US was significantly higher than that of PE (P = 0.004 and P = 0.002). Conclusion: The results of this study demonstrated that US is superior in evaluating ALNs when compared with PE and that US should replace PE as the standard method for the clinical staging of ALNs in breast cancer. [ABSTRACT FROM AUTHOR]

Abstract Digestate from biogas plants managing municipal solid waste needs to be stabilized prior to final utilization or disposal. Based on the concept of urban mining, aged refuse from a closed landfill was used to treat landfill leachate, but nitrogen removal by biological denitrification was limited. The aim of this study was to use a digestate layer in bioreactors containing aged refuse to enhance the biological denitrification capacity of the aged refuse, stabilize digestate, and mitigate the ammonia emissions from digestate leaching with leachate recirculation. Six identical landfill columns filled with 0% (R0), 5% (R5), and 15% (R15) of solid digestate above aged refuse (ratios based on Total Solids) were setup and nitrified leachate was periodically fed and recirculated to the columns. The nitrate removal rate in R5 and R15 was 3.4 and 10 times higher relative to the control (no digestate added). A 31.5–35.9% increase of solid digestate biostability was confirmed by tests performed under both aerobic and anaerobic conditions. The results showed that instead of land use, the solid fraction of digestate could be utilized as an inexpensive functional layer embedded in an old landfill site to enhance the denitrification capacity and achieve digestate stabilization with minimal ammonia leaching from digestate. Graphical abstract A combined approach to manage digestate and landfill leachate treatment. Image 1 Highlights • Bioreactors packed with aged refuse and digestate were used to treat landfill leachate. • Digestate addition enhanced the denitrification capacity of aged landfill waste tenfold. • The aged refuse mitigated the amount of ammonia leaching from the solid digestate by 67.2%–84.8%. • N removal of old landfill leachate was jointly gained with digestate stabilization. [ABSTRACT FROM AUTHOR]

Abstract: Knowledge of the pathology of axillary lymph nodes (ALN) in breast cancer patients is critical for determining their treatment. Ultrasound is the best noninvasive evaluation for the ALN status. However, the correlation between negative ultrasound results and the sentinel lymph nodes (SLN) pathology remains unknown. To test the hypothesis that negative ultrasound results of ALN predict the negative pathology results of SLN in breast cancer patients, we assessed the association between ALN ultrasonography‐negative results and the SLN pathology in 3115 patients with breast cancer recruited between October 2010 and April 2016 from a single cancer center, prospective database. Of these patients who met the inclusion criteria, 2317 (74.4%) had no SLN pathological metastasis. In the univariate analysis, other 798 patient with positive SLN tended to be under age 40 and premenopausal, having large tumor sizes (>2 cm), higher histological grade of primary tumor, positive hormone receptors, and negative HER‐2 status (P < .05 for all). In the multivariate analysis, menstrual status, tumor size, ER status and histological types of primary tumor remained to be independent predictors for SLN pathological metastasis. The area under curve (AUC) was 0.658 (95% CI = 0.637‐0.679), P > .05. In conclusion, only a 74.4% consistency between ALN ultrasonography‐negative results and negative pathological SLN results, although menstrual status, tumor size, histologic subtypes of primary tumor and ER status were found to be statistically independent predictors of positive SLN among patients negative for ALN ultrasonography. Therefore, the present study suggests that negative ultrasound results of ALN do not adequately predict the negative pathology results of SLN in breast cancer patients. [ABSTRACT FROM AUTHOR]

Background: RECQL is a number of the RecQ DNA helicase family and plays an important role in maintaining genome stability. Although several studies have reported that RECQL mutations were correlated with the susceptibility to breast cancer, the effect on prognosis in breast cancer was not yet clarified. Here, we explored the association between RECQL expression level and survival in patients with breast cancer.Methods: In the first cohort, the RECQL mRNA expression level was evaluated in 774 primary breast cancer patients using a quantitative real-time PCR assay. Then, in the second independent cohort, the level of RECQL protein expression was detected in 322 patients with breast cancer using immunohistochemistry assay. Survival curves of patients with RECQL expression were compared using the Kaplan-Meier method with log-rank test.Results: In the first cohort of 774 breast cancer patients, the low expression level of RECQL mRNA was significantly correlated with aggressive clinicopathological characteristics, including the positive lymph node status (P = 0.026), HER2 overexpression (P < 0.001), ER negative status (P = 0.047) and high tumor grade (P = 0.041). Moreover, the low expression level of RECQL mRNA was significantly associated with poor distant recurrence-free survival (DRFS, unadjusted hazard ratio (HR): 2.77, 95% confidence interval (CI): 1.88-4.09, P < 0.001) and disease-specific survival (DSS, unadjusted HR: 3.10, 95% CI: 1.84-5.20,P < 0.001), and it remained an independent unfavorable factor for DRFS and DSS (DRFS: adjusted HR: 3.04, 95% CI: 1.89-4.87, P < 0.001; DSS: adjusted HR: 4.25, 95% CI: 2.12-8.46, P < 0.001). In the second cohort of 322 breast cancer patients, low expression of RECQL protein was also subject to poor survival in breast cancer, and it was an independent prognosis factor of poor DRFS by multivariate analysis (DRFS: adjusted HR: 2.12, 95% CI: 1.16-3.88, P = 0.015).Conclusions: Breast cancer patients with low RECQL expression had a worse survival. The expression level of RECQL may be a potential prognosis factor for breast cancer. [ABSTRACT FROM AUTHOR]

Oldhamianoside II is a novel triterpenoidsaponin that can be isolated from the roots of Gypsophila oldhamiana. In vitro and in vivo experiments have revealed that it inhibits tumor growth and metastasis in various types of tumor; however, the exact mechanism remains to be fully elucidated. In the present study, oldhamianoside II treatment in prostate cancer cells exerted substantial anticancer activity, including decreased cell proliferation and invasion. Mechanistically, oldhamianoside II was found to reverse the epithelial‑mesenchymal transition (EMT), as demonstrated by its induction of E‑cadherin and suppression of vimentin and N‑cadherin at the mRNA and protein levels. Furthermore, oldhamianoside II treatment upregulated Wnt antagonist expression and promoted the proteasome‑mediated degradation of β‑catenin to inhibit the activity of β‑catenin signaling. In summary, the present study revealed that oldhamianoside II exerts its antitumor effects via the regulation of EMT and β‑catenin function, and further supports its potential for use in clinical treatment. [ABSTRACT FROM AUTHOR]

Background The prevalence of BRCA1 somatic mutations status in triple-negative breast cancer (TNBC) has not been well documented. The aims of this study were to determine the frequency of BRCA1 somatic mutations and to investigate the association between BRCA1 deleterious somatic mutation status and response to neoadjuvant chemotherapy in women with TNBC. Methods Two hundred and five TNBC patients without BRCA1 germline mutations were enrolled in this study. Fresh tumor tissues were available for this cohort of 205 patients, including 112 patients with fresh core needle biopsy tumor tissues before treatment and 93 patients with fresh tumor tissues procured after surgery. BRCA1 somatic mutations were determined in the tumor samples using PCR-direct sequencing assay. Among the 112 patients with core needle biopsy samples, 97 patients received neoadjuvant chemotherapy. Results Eight patients (3.9%) carried a BRCA1 pathogenic somatic mutation in this cohort of 205 TNBC patients. These eight BRCA1 deleterious somatic mutations included five frameshift or nonsense mutations (c.191_212del22, c.1664delA, c.4674_4675 + 17del, c.3671_3672insTTCC, c.1162A > T), one splicing site mutation (c.134 + 2T > G) and two missense mutations (c.5511G > C and c.286G > A). No significant differences in tumor characteristics between BRCA1 deleterious somatic mutation carriers and non-carriers were observed. The pCR (pathologic complete response) rate was 32.0% in the 97 patients who received neoadjuvant chemotherapy. BRCA1 deleterious somatic mutation carriers (n = 5) had a higher pCR rate than did non-carriers (n = 92) ( BRCA1 carriers vs non-carriers, 60.0% vs 30.4%, P = 0.32), although it did not reach a significance due to a small sample size. Conclusions A small subset of TNBC patients carried a BRCA1 deleterious somatic mutation; BRCA1 somatic mutation carriers are likely to respond to neoadjuvant chemotherapy. [ABSTRACT FROM AUTHOR]

The genetic cause for approximately 80% of familial breast cancer patients is unknown. Here, by sequencing the entire exomes of nine early-onset familial breast cancer patients without BRCA1/2 mutations (diagnosed with breast cancer at or before the age of 35) we found that two index cases carried a potentially deleterious mutation in the RECQL gene (RecQ helicase-like; chr12p12). Recent studies suggested that RECQL is involved in DNA double-strand break repair and it plays an important role in the maintenance of genomic stability. Therefore, we further screened the RECQL gene in an additional 439 unrelated familial breast cancer patients. In total, we found three nonsense mutations leading to a truncated protein of RECQL (p.L128X, p.W172X, and p.Q266X), one mutation affecting mRNA splicing (c.395-2A>G), and five missense mutations disrupting the helicase activity of RECQL (p.A195S, p.R215Q, p.R455C, p.M458K, and p.T562I), as evaluated through an in vitro helicase assay. Taken together, 9 out of 448 BRCA-negative familial breast cancer patients carried a pathogenic mutation of the RECQL gene compared with one of the 1,588 controls (P = 9.14×10-6). Our findings suggest that RECQL is a potential breast cancer susceptibility gene and that mutations in this gene contribute to familial breast cancer development. [ABSTRACT FROM AUTHOR]

Background: Myasthenia gravis (MG) is an autoimmune diseases characterized by fatigue and weakness of skeletal muscles. B-lymphocyte-activating factor (BAFF), an essential factor for B cell differentiation and development, is important in the progression of MG. The current study aimed to investigate the association between single nucleotide polymorphism rs2893321 in BAFF with MG susceptibility in Chinese Han population. Methods: One hundred forty-nine patients with MG and 148 healthy controls were recruited. Using improved multiple ligase detection reaction technology, the polymorphisms of rs2893321 between groups and among MG subgroups have been compared. Results: A significant differences between the MG group and the healthy control group was observed. Additionally, rs2893321 was found to be associated with gender and age in patients with MG. Conclusion: Genetic variations of rs2893321 in BAFF might be associated with susceptibility to MG in the Chinese Han population. [ABSTRACT FROM AUTHOR]