Objective: To analyze the status of colorectal cancer screening results in Shangcheng District, Hangzhou City from 2020 to 2022, so as to provide the evidence for developing prevention and control strategies for colorectal cancer. Methods: According to Colorectal Cancer Screening Program for Zhejiang Key Populations, residents registered in Shangcheng District and at ages of 50 to 74 years were recruited and screened using Zhejiang Provincial Questionnaires for Assessment of Risk of Colorectal Cancer Screening among High-risk Populations and fecal immunochemical test (FIT). Residents positive for questionnaires or FIT, or both positive for questionnaires and FIT were served as a positive screening and colonoscopy should be underwent. The rates of positive screening, compliance of colonoscopy and different pathological diagnosis results were analyzed. Results: Totally 118 227 residents were screened in Shangcheng District from 2020 to 2022, with a positive rate of 16.00%. The positive rates of questionnaires, FIT and both questionnaires and FIT were 8.14%, 6.46% and 1.40%, respectively. Colonoscopy was performed among 6 501 cases, with a compliance rate of 34.37%. Colonoscopy detected 3 689 cases with colorectal lesions, with a detection rate of 56.75%. The detection rates of colorectal cancer, pericancer lesions and other benign lesions were 1.12%, 9.15% and 46.47%, respectively. The detection rates of positive screening, colorectal lesions and pericancer lesions were higher in men (22.16%, 61.25% and 12.45%) than those in women (11.62%, 51.98% and 5.67%; all P<0.05). The detection rates of positive screening, colorectal lesions, colorectal cancer and pericancer lesions appeared a tendency towards a rise with age (all P<0.05). The detection rates of positive screening and colorectal lesions appeared a tendency towards a decline, and the compliance rate of colonoscopy appeared a tendency towards a rise from 2020 to 2022 (all P<0.05). The detection rate of pericancer lesions was higher among questionnaire and FIT positive residents (65.37%, P<0.05). Conclusions The detection rates of colorectal cancer and pericancer lesions in Shangcheng District from 2020 to 2022 were 1.12% and 9.15%, respectively. Men, the elderly, questionnaire and FIT positive residents are key populations, and the compliance of colonoscopy for the populations should be improved.

The research shows that personality assessment can be achieved by regression model based on electroencephalogram (EEG). Most of existing researches use event-related potential or power spectral density for personality assessment, which can only represent the brain information of a single region. But some research shows that human cognition is more dependent on the interaction of brain regions. In addition, due to the distribution difference of EEG features among subjects, the trained regression model can not get accurate results of cross subject personality assessment. In order to solve the problem, this research proposes a personality assessment method based on EEG functional connectivity and domain adaption. This research collected EEG data from 45 normal people under different emotional pictures (positive, negative and neutral). Firstly, the coherence of 59 channels in 5 frequency bands was taken as the original feature set. Then the feature-based domain adaptation was used to map the feature to a new feature space. It can reduce the distribution difference between training and test set in the new feature space, so as to reduce the distribution difference between subjects. Finally, the support vector regression model was trained and tested based on the transformed feature set by leave-one-out cross-validation. What's more, this paper compared the methods used in previous researches. The results showed that the method proposed in this paper improved the performance of regression model and obtained better personality assessment results. This research provides a new method for personality assessment.
Algorithms ; Brain ; Electroencephalography/methods* ; Emotions ; Humans ; Personality Assessment

Objective To investigate the positive rate of serum biomarkers of 4 infectious diseases including HBV, HCV, HIV, and TP in patients in Jinniu District People’s Hosptial of Chengdu. Methods The results of serum markers of the 4 infectious diseases in 34 080 patients detected in the Laboratory Department of Chengdu Jinniu District People's Hospital were analyzed retrospectively. Results Of these 34 080 patients, the positive rate of HIV antibody (anti-HIV1/2) was 0.32%, the positive rate of hepatitis B surface antigen (HBsAg) was 11.34%, the positive rate of hepatitis C antibody (anti-HCV) was 0.42%, and the positive rate of Treponema pallidum antibody (anti-TP) was 3.08%. The positive rates of anti-HIV1/2, HBsAg and anti-TP in males were higher than those in females (P<0.01). Of the four serum biomarkers detected, Anti-HIV1/2, HB^sAg, and anti-HCV had the highest positive rate in the 30-59 age group, while anti-TP had the highest positive rate in the group older than 60 years old. Conclusion The positive detection rate of serum markers in four infectious diseases in patients in Chengdu Jinniu District People's Hospital before surgery, childbirth and blood transfusion was higher, and the male positive rate was higher than that of the female.

Objective: To explore the molecular basisfor a child featuring short stature, abnormal facial features and developmental delay. Methods: Genomic DNA was extracted from peripheral blood samples from the child and his family members. Next-generation sequencing was carried out to screen the whole exomes of the core family. Detected variants were filtered and analyzed according to the standards and guidelines for the interpretation of sequence variants recommended by the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Results: Trio-based sequencing has identified a de novo variant c. 3593T>G (p.Val1198Gly) in the SMARCA2gene in the patient. The variant was located in the Helicase C-terminal domain and was classified as pathogenic based on the guidelines. Conclusion The patient was diagnosed with Nicolaides-Baraitser syndrome caused by SMARCA2 gene mutation.

OBJECTIVETo explore the value of single nucleotide polymorphism array (SNP-array) for the analysis of pediatric patients with growth retardation.

METHODSOne hundred eighty one children with growth retardation were enrolled. DNA was extracted from peripheral samples from the patients, and whole genome copy number variations (CNVs) were detected using Illumina Human Cyto SNP-12. All identified CNVs were further analyzed with reference to databases including ClinGen, ClinVar, DECIPHER, OMIM and DGV as well as comprehensive review of literature from PubMed to determine their pathogenicity.

RESULTSForty seven patients (26%) with abnormal CNVs were detected, which included 12 known microdeletions/microduplications syndrome (26%), 10 pathogenic non-syndromic CNVs (21%), 3 numerical chromosome aberrations (6%), 3 unbalanced translocations (6%), 4 pathogenic mosaicisms (9%) and 15 cases with unknown clinical significance (32%). After excluding obvious numerical and/or structural chromosomal abnormalities, this study has detected 15 pathogenic microdeletions/microduplications sized 5 Mb or less, which may be missed by routine chromosomal karyotyping. In addition, there were 3 cases with loss of heterozygoisty (LOH) containing known or predicted imprinting genes as well as 2 cases with suspected parental consanguinity.

CONCLUSIONSNP-array technology is a powerful tool for the genetic diagnosis of children with growth disorders with advantages of high resolution and improved accuracy.

Adolescent ; Child ; Child, Preschool ; Chromosome Aberrations ; DNA Copy Number Variations ; Developmental Disabilities ; diagnosis ; genetics ; Female ; Humans ; Infant ; Karyotyping ; Male ; Oligonucleotide Array Sequence Analysis ; methods ; Polymorphism, Single Nucleotide

Objective Design short stature panel with gene curration strategy.Methods The gene curation process was introduced in detail.The strength of a gene-disease relationship was evaluated based on publicly available genetic and experimental evidence.This process in short stature panel design and its effect on gene selection was further demonstrated.Results After gene curation, the number of gene in list was effectively decreased from 1 276 to 705.The panel sequencing reached a diagnosis rate of 19.7% among a cohort of 371 nation-wide ascertained short stature patients.The gene curation process reduced the risk of false positive findings and decreased diagnostic cost and working hours without affecting the diagnosis rate.Conclusion Gene curation is an important step for NGS-based test and should be widely exercised.

Objective To investigate the genetic basis of patients with intellectual disability,and to assess the application of single nucleotide polymorphisms (SNP)-array in the molecular diagnosis of intellectual disability.Methods Sixty-four patients with intellectual disability who were identified in Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region from January 2013 to June of 2015 were enrolled.Genomic DNA was extracted from peripheral blood and was analyzed with Illumina Humancyto SNP-12 300K gene array chip.All identified copy number variants (CNVs) were analyzed with references from databases such as ClinVar,DECIPHER,OMIM and DGV(Database of Genomic Variants),as well as comprehensive literature review from PubMed database to determine the pathogenicity of CNVs.Results Sixteen cases of the above 64 patients were found to have CNVs with genomic alterations,including 6 cases microdeletions/microduplications associated with known syndromes,3 cases microdeletions and microduplications with clear clinical relevance (non-syndrome),1 case numerical chromosome aberration,1 case unbalanced translocation and 5 cases CNVs of unknown clinical significance.The detection rate was 25% (16/64 cases).Among these 16 abnormalities,6 cases of them could not be detected by using karyotyping analysis because their sizes were less than 5 Mb,and the smallest detected missing fragment was 0.53 Mb.Conclusion SNP-array gene chip technique with the advantages of higher efficiency,high-resolution and good accuracy,which can be applied to the genetic diagnosis of intellectual disability.

Objective To screen the serum protein molecular markers of postmenopausal osteoporosis by the proteomicsanalysis using Tandem Mass Tag (TMT) combined with liquid chromatography-tandem mass spectrometry (LC-ESI-MS/MS).Methods 20 serum protein samples were recruited (10 cases of postmenopausal patients with osteoporosis and 10 cases of postmenopausal women without osteoporosis)and the high abundance ratios protein was removed,differentiation protein was extracted and labeled with TMT reagent.Then,mass spectrometric detection,data analysis of differentially expressed proteins,and analysis of biological information were carried out.Results 87 significantly differentially expressed proteins were screened from the differentiated protein expression profile by LC-ESI-MS/MS combined with TMT labeling.While 50 proteins were up-regulated,and 37 proteins were down-regulated.Differentially expressed proteins were analyzed by GO annotation,these proteins are mainly involved in 15 kinds of biological processes,7 kinds of cellular component,6 kinds of molecular function.RAB7A,TSP1,GAS6,SPP24 were screenedas candidate proteins which were related to mechanism of bone remodeling of osteoporosis.By STRING 10.0 protein interaction network analysis tools,RAB7A,TSP1,GAS6 were located in the center of the interaction network.SPP24 was located at edge of the network,but it is directly related to the protein BMP-2 of bone remodeling.RAB7A,TSP1,GAS6,SPP24 may be associated with the pathogenesis of postmenopausal osteoporosis.Conclusion These results provide that the proteomics analysis by using TMT coupled with LC-ES1-MS/MS was a feasible method for screening the molecular biomarkers.It suggests that RAB7A,TSP1,GAS6 and SPP24 may be useful biomarkers which can be used both in diagnosis and treatment of postmenopausal osteoporosis.

OBJECTIVE To generate hemophilia A (HA) patient-specific inducible pluripotent stem cells (iPSCs) and induce endothelial differentiation. METHODS Tubular epithelial cells were isolated and cultured from the urine of HA patients. The iPSCs were generated by forced expression of Yamanaka factors (Oct4, Sox2, c-Myc and Klf4) using retroviruses and characterized by cell morphology, pluripotent marker staining and in vivo differentiation through teratoma formation. Induced endothelial differentiation of the iPSCs was achieved with the OP9 cell co-culture method. RESULTS Patient-specific iPSCs were generated from urine cells of the HA patients, which could be identified by cell morphology, pluripotent stem cell surface marker staining and in vivo differentiation of three germ layers. The teratoma experiment has confirmed that such cells could differentiate into endothelial cells expressing the endothelial-specific markers CD144, CD31 and vWF. CONCLUSION HA patient-specific iPSCs could be generated from urine cells and can differentiate into endothelial cells. This has provided a new HA disease modeling approach and may serve as an applicable autologous cell source for gene correction and cell therapy studies for HA.
Cell Differentiation ; Hemophilia A ; pathology ; therapy ; urine ; Humans ; Induced Pluripotent Stem Cells ; cytology ; transplantation ; Urine ; cytology

Objective To investigate the expression and clinical significance of Claudin-4 in human se-rous ovarian cancer.Methods 43 cases of serous ovarian cancer from Oct.2008 to May 2014 were studied.Re-al-time quantitative PCR( qRT-PCR) was applied to detect mRNA expression of Claudin-4 in serous ovarian cancer ( n=43 ) in comparison to the corresponding tumor-adjacent tissues.The protein expression of Claudin-4 was measured by immunohistochemistry( IHC) .Results mRNA and protein expression level of Claudin-4 was signif-icantly higher in serous ovarian cancer tissues than in adjacent normal tissues(P<0.05).The high expression of Claudin-4 protein was also associated with large tumor size, lymphatic metastasis, and advanced TNM stage( P<0.05 ) .Conclusions The expression of Claudin-4 is significantly higher in serous ovarian cancer tissues than in the adjacent normal tissues, and it is associated with clinicopathological features.Claudin-4 may become a new marker in early diagnosis and biological target therapy.