In the candidate region 12q13 of simple congenital heart disease(CHD), four single nucleotide polymorphisms(SNPs) in HOXC4 gene were chosen in order to investigate the distribution of SNP and haplotypes in simple CHD patients and normal people.The genotype of 4 SNPs in 108 simple CHD patients and 200 normal people were analyzed by restriction fragment length polymorphism(RFLP) and denaturing high-performance liquid chromatography(DHPLC). The statistical contingency table method was used to analyze SNP genotype frequency and gene frequency in patients and control group; then, the haplotypes were established and their frequencies in the two groups were assessed by PHASE software.C16476T polymorphism was not detected; A17860G located in 3' flanking sequence of HOXC5 gene displayed significant difference between the two groups. The G allele frequency in simple CHD patients was higher than that in healthy controls(P < 0.05); the distribution of frequencies of 4 haplotypes showed significant difference(P < 0.01).The A17860G located in 3'flanking sequence of HOXC5 gene is associated with simple CHD; the risk of CHD in the persons with G17860 is higher than that in those with A17860. the haplotype of 3 SNPs may be linked with the susceptible gene of simple CHD.
Objective To investigate the association between the I495L,D933G polymorphisms of glioma-associated oncogene homolog 1(GLI1)gene and congenital heart disease(CHD).Methods Under the case-control study,the I495L and D933G polymorphisms of GLI1 gene in 180 children with CHD,including 37 children with atrial septal defect(ASD),65 children with ventricular septal defect(VSD)and 78 children with tetralogy of Fallot(TOF),and 200 healthy children,were detected with polymerase chain reaction-restriction fragment length polymorphism(PCR-RFLP).The distribution of genotype and allele frequency at above 2 polymorphism sites and its relationship with the risk of CHD were analyzed in these groups.SPSS 13.0 software was used to analyze the data.Results The distribution of genotype and allele frequency at I495L polymorphism site were significantly different between VSD group,TOF group and healthy control group(P=0.024,0.029;P=0.015,0.004),and the relative risks for VSD and TOF in C allele carriers were higher than those in A allele carriers(VSD:OR=1.658,95%CI 1.101-2.496;TOF:OR=1.757,95%CI 1.198-2.575).The distribution of genotype and allele frequency at D933G polymorphism site were significantly different between VSD group,TOF group and healthy control group(P=0.015,0.018;P=0.039,0.008),and the relative risks for VSD and TOF in G allele carriers were higher than those in A allele carriers(VSD:OR=1.520,95%CI 1.020-2.266;TOF:OR=1.654,95%CI 1.137-2.406).Conclusions The I495L and D933G polymorphisms of GLI1 gene are associated with CHD,and a person with C and G allele has higher risk with CHD.
The human dimension information is crucial for efficient building energy saving, comfort conditions, health and productivity, and security management. Existing vision-based building indoor occupancy measurement approaches have achieved remarkable progress, but struggle to achieve high and robust accuracy because of the complex indoor environments. Vision-based methods face many challenges, including background objects and diverse scales, which bring practical problems to indoor applications.In this paper, to address these issues, we propose a Multi-Source Information Fusion network in video head detection for estimating building occupancy. Our method utilizes cameras to capture surveillance videos and analyzes them through a deep neural network. We use the multi-source feature to effectively guide the single-frame detector to propose robust head boxes. We apply a multi-source fusion network to extract features. Besides, we extend head detection datasets with multi-source information, including optical flow maps, Depth maps, frame difference maps, etc. Our method achieves superior performance through ablation studies compared to existing methods on practical building surveillance videos. Experiments validate its potential for building energy saving and comfort improvement with a high occupancy estimation accuracy.
Head detection in the indoor video is an essential component of building occupancy detection. While deep models have achieved remarkable progress in general object detection, they are not satisfying enough in complex indoor scenes. The indoor surveillance video often includes cluttered background objects, among which heads have small scales and diverse poses. In this paper, we propose Motion-aware Pseudo Siamese Network (MPSN), an end-to-end approach that leverages head motion information to guide the deep model to extract effective head features in indoor scenarios. By taking the pixel-wise difference of adjacent frames as the auxiliary input, MPSN effectively enhances human head motion information and removes the irrelevant objects in the background. Compared with prior methods, it achieves superior performance on the two indoor video datasets. Our experiments show that MPSN successfully suppresses static background objects and highlights the moving instances, especially human heads in indoor videos. We also compare different methods to capture head motion, which demonstrates the simplicity and flexibility of MPSN. To validate the robustness of MPSN, we conduct adversarial experiments with a mathematical solution of small perturbations for robust model selection. Finally, for confirming its potential in building control systems, we apply MPSN to occupancy counting. Code is available at https://github.com/pl-share/MPSN.
Objective To investigate the influence and mechanism of Mst1 gene on the proliferation and apoptosis of laryngeal carcinoma Hep2 cells.Methods The Hep2 cells were regarded as control group,and the Hep2 cells transfected with pcDNA3.1-Mst1 as Mst1 transfected group,the Mst1 transfected group cells treated with SB203580 as SB203580 treated group.In the three groups,the inhibitory rate of cell growth was detected by MTT,the apoptosis was detected by flow cytometry,and the protein expression of Mst1 and phosphorylated p38(p-p38) and total p38(t-p38) were detected by Western blot.Results Compared with control group,the protein expression of Mst1 and p-p38 in Mst1 transfected group up-regulated significantly,t-p38 protein showed no changes,the apoptosis radio increased from 2.46% to 7.37%,the inhibitory rate of cell growth was 41.8%.Compared with Mst1 transfected group,the protein expression of p-p38 in SB203580 treated group down-regulated significantly,t-p38 protein showed no changes,the apoptosis radio decreased from 7.37% to 2.65%,the inhibitory rate of cell growth was-10.1%,cell proliferation decreased significantly.Conclusion Mst1 gene can regulate the apoptosis and proliferation of laryngeal carcinoma cells through p38 MAPK pathway.
Background: X-linked hypophosphatemia (XLH) is the most common form of heritable rickets characterized by X-linked dominant inheritance, renal phosphate wasting, hypophosphatemia, and defective bone mineralization. Inactivating mutations of the PHEX gene located at Xp22.1 have been linked with this disease. Ethnic distribution of such mutations seems widespread but only a few mutations in the Chinese population have been reported to date. Materials and Methods: We report on a large Han Chinese family affected with XLH rickets, which included 13 patients from four generations. Polymerase chain reaction and direct sequencing were performed for all exons and intron–exon boundaries of the PHEX gene. The effect of nucleotide changes was analyzed using bioinformatic software. Prenatal diagnosis was performed on umbilical cord blood at the 20th gestational week. Results: A novel G→A splice mutation in intron 7 (c.849+1G>A) was identified in all patients from the family. As confirmed by reverse-transcription (RT)–polymerase chain reaction (PCR), the mutation has rendered loss of a normal splice donor site (c.849+1G) while activating a cryptic one at c.849+519G, which resulted in addition of 518 nucleotides to the mature RNA. Prenatal diagnosis had excluded the fetus for carrying the same mutation. A healthy boy was born later. Conclusions: A novel splice mutation c.849+1G>A in the PHEX gene is responsible for XLH in the studied family. Further studies may enhance our understanding of the role of this mutation in the pathogenesis of XLH.
MYCT1, previously named MTLC, is a novel candidate tumor suppressor gene. MYCT1 was cloned from laryngeal squamous cell cancer (LSCC) and has been found to be down-regulated in LSCC; however, the regulatory details have not been fully elucidated.Here, we sought to investigate the methylation status of the CpG islands of MYCT1 and mRNA levels by bisulfite-specific PCR (BSP) based on sequencing restriction enzyme digestion, reverse transcription and real-time quantitative polymerase chain reaction (RQ-PCR). The function of specific sites in the proximal promoter of MYCT1 in LSCC was measured by transient transfection, luciferase assays, electrophoretic mobility shift assay (EMSA) and chromatin immunoprecipitation assay (ChIP).The results suggested hypermethylation of 12 CpG sites of the promoter in both laryngeal cancer tissues and the laryngeal cancer line Hep-2 cell. The hypermethylation of the site CGCG (-695 to -692), which has been identified as the c-Myc binding site, was identified in laryngeal cancer tissues (59/73) compared to paired mucosa (13/73); in addition, statistical analysis revealed that the methylation status of this site significantly correlated with cancer cell differentiation(p < 0.01). The mRNA level of MYCT1 increased in Hep-2 cells treated with 5-aza-C (p < 0.01). The luciferase activity from mutant transfectants pGL3-MYCT1m (-852/+12, mut-695-C > A, mut-693-C > G) was significantly reduced compared with the wild type pGL3-MYCT1 (-852/+12), while the luciferase activity from wild transfectants pGL3-MYCT1 (-852/+12) rose after 5-aza treatment in Hep-2 cells. Finally, EMSA and ChIP confirmed that the methylation of the CGCG (-695 to -692) site prevented c-Myc from binding of the site and demethylation treatment of the 5' flanking region of MYCT1 by 5-aza induced the increased occupation of the core promoter by c-Myc (p < 0.01).In summary, this study concluded that hypermethylation contributed to the transcriptional down-regulation of MYCT1 and could inhibit cancer cell differentiation in LSCC. DNA methylation of the CGCG site (-695 to -692) of MYCT1 altered the promoter activity by interfering with its binding to c-Myc in LSCC. Epigenetic therapy of reactivating MYCT1 by 5-aza should be further evaluated in clinical trails of LSCC.
There is a rising interest in using artificial intelligence (AI)-powered safety analytics to predict accidents in the trucking industry. Companies may face the practical challenge, however, of not having enough data to develop good safety analytics models. Although pretrained models may offer a solution for such companies, existing safety research using transfer learning has mostly focused on computer vision and natural language processing, rather than accident analytics. To fill the above gap, we propose a pretrain-then-fine-tune transfer learning approach to help any company leverage other companies' data to develop AI models for a more accurate prediction of accident risk. We also develop SafeNet, a deep neural network algorithm for classification tasks suitable for accident prediction. Using the safety climate survey data from seven trucking companies with different data sizes, we show that our proposed approach results in better model performance compared to training the model from scratch using only the target company's data. We also show that for the transfer learning model to be effective, the pretrained model should be developed with larger datasets from diverse sources. The trucking industry may, thus, consider pooling safety analytics data from a wide range of companies to develop pretrained models and share them within the industry for better knowledge and resource transfer. The above contributions point to the promise of advanced safety analytics to make the industry safer and more sustainable.
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