Objective To observe the value of global and contextual dual attention U-Net model for segmenting thoracic and lumbar vertebrae in spinal sagittal X-ray images.Methods Totally 600 spinal sagittal X-ray images of 600 patients with adolescent idiopathic scoliosis were retrospectively enrolled.The images were preprocessed,and T4-T12 and L1-L5 were manually annotated as reference standards.The global attention refinement(GAR)module and attention-based atrous spatial pyramid pooling(A-ASPP)module were added to U-Net model,fivefold cross validation method was used for training and validation,and its performance for segmenting sagittal X-ray images was analyzed,and compared with pyramid scene parsing network(PSPNet),visual geometry group(VGG)-UNet and DeepLabv3+.Results The precision,sensitivity and Dice similarity coefficient of global and contextual dual attention U-Net model for segmenting thoracic and lumbar vertebrae in spinal sagittal X-ray images was 90.58％,89.51％,and 90.20％,respectively,which were superior to PSPNet,VGG-UNet and DeepLabv3+.The loss function and mean intersection over union curves showed that it converged quickly and had good generalization ability.Conclusion The global and contextual dual attention U-Net model could effectively segment thoracic and lumbar vertebrae in spinal sagittal X-ray images.

Objective To observe the value of global and contextual dual attention U-Net model for segmenting thoracic and lumbar vertebrae in spinal sagittal X-ray images.Methods Totally 600 spinal sagittal X-ray images of 600 patients with adolescent idiopathic scoliosis were retrospectively enrolled.The images were preprocessed,and T4-T12 and L1-L5 were manually annotated as reference standards.The global attention refinement(GAR)module and attention-based atrous spatial pyramid pooling(A-ASPP)module were added to U-Net model,fivefold cross validation method was used for training and validation,and its performance for segmenting sagittal X-ray images was analyzed,and compared with pyramid scene parsing network(PSPNet),visual geometry group(VGG)-UNet and DeepLabv3+.Results The precision,sensitivity and Dice similarity coefficient of global and contextual dual attention U-Net model for segmenting thoracic and lumbar vertebrae in spinal sagittal X-ray images was 90.58％,89.51％,and 90.20％,respectively,which were superior to PSPNet,VGG-UNet and DeepLabv3+.The loss function and mean intersection over union curves showed that it converged quickly and had good generalization ability.Conclusion The global and contextual dual attention U-Net model could effectively segment thoracic and lumbar vertebrae in spinal sagittal X-ray images.

Objective:To detect gene mutations in a pedigree with dominant dystrophic epidermolysis bullosa (DDEB) .Methods:A 20-year-old male proband presented with repeated blisters, ulceration, pigmentation, scars on the limbs, and deformation of the nails/toenails after birth. There were 5 patients in the 3-generation family, and they all presented with typical skin lesions. Peripheral blood samples were obtained from 14 members of the pedigree (including the 5 patients) and 100 unrelated healthy controls. Whole-exome sequencing was performed in the proband to identify relevant mutation sites, which were then confirmed in the family by Sanger sequencing.Results:Genetic testing indicated that the proband and the other 4 patients all carried a missense mutation (c.7885G>A) in exon 107 of the COL7A1 gene, resulting in the substitution of glycine by arginine at amino acid position 2629 (p.G2629R). The mutation was identified neither in the 9 healthy relatives nor in the 100 unrelated healthy controls. The mutation co-segregated with DDEB in the family, and was not included in databases such as Pubmed, HGMD or ClinVar, suggesting it was a novel missense mutation. The amino acid encoded by this mutation may alter the structure of type Ⅶ collagen, thereby affecting its function.Conclusion:A novel missense mutation was identified in exon 107 of the COL7A1 gene in the family with DDEB, expanding the spectrum of mutations in the COL7A1 gene.

Objective:To investigate changes of nicastrin (NCSTN) downstream molecules in signaling pathways related to cell proliferation and differentiation after silencing the expression of the NCSTN gene in the human immortalized keratinocyte cell line HaCaT.Methods:HaCaT cells were divided into 3 groups: interference group transfected with a specific small interfering RNA (siRNA) targeting NCSTN (NCSTN-siRNA) , negative control group transfected with a negative control siRNA, and blank control group transfected with the equal amount of transfection reagent. Real-time PCR and Western blot analysis were performed to measure the NCSTN mRNA and protein expression in groups, in order to verify the transfection efficiency. Differences in gene expression profiles in HaCaT cells were detected between the interference group and negative control group by using Agilent whole-genome microarray, and differentially expressed genes were identified based on a fold change ≥ 2.0 with a P value ≤ 0.05. Gene ontology (GO) enrichment analysis was employed to identify the roles of the differentially expressed genes, and then to screen out significantly differentially expressed genes associated with proliferation and differentiation of keratinocytes, some of which were verified by real-time PCR. Results:The interference group showed significantly decreased mRNA and protein expression of NCSTN (0.287 ± 0.090, 0.443 ± 0.085, respectively) compared with the negative control group (0.969 ± 0.127, 1.047 ± 0.114, respectively) and blank control group (1.000 ± 0.151, 1.000 ± 0.111, F = 30.787, 31.139, respectively, both P = 0.001) . Whole genome-expression analysis using an Agilent microarray platform revealed 605 downregulated genes and 444 upregulated genes in HaCaT cells in the interference group compared with the negative control group. GO analysis showed that differentially expressed genes were enriched into 4 biological processes, including epithelial development, epithelial cell differentiation, keratinocyte differentiation and keratinization. The significantly differentially expressed genes associated with proliferation and differentiation of keratinocytes, including the Sprouty-related protein with EVH1 domain 2, fibroblast growth factor 7, insulin-like growth factor-binding protein 5, Rho-associated coiled-coil kinase 2 and bone morphogenetic protein 6 genes, were verified by real-time PCR, and the verification results were consistent with the difference trend shown by the microarray results. Conclusion:The loss of NCSTN gene function may affect the normal proliferation and differentiation of keratinocytes by regulating the expression of its downstream molecules in signaling pathways associated with cell proliferation and differentiation.

Acne inversa is a chronic inflammatory skin disease of the folliculo-sebaceous-apocrine unit. Currently, genetic and immunological factors are hot topics in the study of its pathogenesis. Genetic factors are mainly related to γ-secretase mutations, and abnormal expression of the γ-secretase-Notch axis leads to increased keratinization of hair follicles and inflammation in some patients with haploinsufficiency of the γ-secretase gene. Mutations in the γ-secretase gene are not necessary for acne inversa, and the risk of Alzheimer′s disease in familial acne inversa patients still remains unclear. Some progress has been made in researches on the association of genotype with phenotype in acne inversa patients, but further studies with large sample size are needed for verification.

A 1-year-old boy developed multiple skin-colored nodules on the forehead and extremities when he was 4 months old.Physical examination revealed that his general condition was well with no hepatomegaly,splenomegaly,lymphadenectasis,testicle abnormality or gingival hypertrophy.Pathologically,the epidermis was normal,while the dermis and subcutaneous tissue were diffusely infiltrated with medium-to large-sized deformed cells,which had a small amount of cytoplasm,oval nucleus,irregular shape and fine chromatin.Some infiltrating cells had nuclear groove and nucleoli.Immunohistochemical studies showed that the tumor cells were positive for S-100 protein,CD56,CD123,CD163,CD68,Ki-67 (40％),weakly positive for CD4 (some),but negative for myeloperoxidase,CD1,CD21.Bone marrow smears showed a 24.5％ infltration by monoblasts and promonocytes.A diagnosis of monoblastic sarcoma cutis preceding acute monoblastic leukemia was made.

Objective To study the role of serum chemokines and their receptors in the pathogenesis of atopic dermatitis(AD).Methods Serum levels of interferon ?-inducible protein-10(IP-10),stromal cell-derived factor-1? (SDF-1?),eotaxin,thymus and activation-regulated chemokine(TARC) as well as macrophage-derived chemokine (MDC) were detected by enzyme-linked immunosor bent assay(ELISA) in 39 patients with AD and 39 normal controls.Meanwhile,chem okine receptors CXCR3,CXCR4,CCR3,CCR4 and CCR5 on peripheral blood CD4+T-lymp hocytes were analyzed by flow cytometry with a two-color immunofluorescent sta ining in 39 patients with AD.Results Serum levels of SDF-1?,TARC and MDC we re significantly higher(P 0.05) between the patients[(123.6 ? 110.4) pg/mL a nd (68.7 ? 26.2) pg/mL,respectively]and controls [(100.7 ? 73.7) pg/mL and(66.8 ? 20.5) pg/mL,respectively].The expression of CXCR3,CCR3,CCR4 and CCR5 o n CD4+T cells was increased (P