1.Serological and genetic analysis of a novel 27delC variant in A subgroup: a case report
Yingjun ZHANG ; Yuli ZHU ; Zhihui FENG ; Shuhong YU
Chinese Journal of Blood Transfusion 2025;38(2):280-283
[Objective] To conduct serological identification and molecular mechanism study on a ambiguous ABO blood group. [Methods] Standard serological techniques were used for the forward and reverse typing of ABO blood type. ABO gene coding and regulatory regions were analyzed by PCR after DNA extraction. Monoclonal sequencing was used to detect the haplotypes of the DNA sequence, and bioinformatics analysis was applied to predict the possible translation outcomes of the mutated DNA sequence. [Results] The sample’s red blood cells showed mixed field agglutination with anti-A, and the serum agglutinated with B cells, exhibiting serological characteristics of subtype A. Direct sequencing and monoclonal sequencing analysis of the ABO gene confirmed one allele as O02, the other had a c.27delC mutation compared with A102, which could cause the translation sequence to terminate prematurely at the 19th amino acids. Analysis and prediction suggested that the mutation might affect the function of the transferase through mechanisms such as shifting the initiation codon, altering the reading frame and affecting the splice sites. [Conclusion] This case is a rare A subtype caused by the c.27delC variation, and the impact on the glycosyltransferase may involve multiple mechanisms, which require further research and exploration.
2.Research on cardiometabolic risk factors of workers in new forms of employment
Siyuan WANG ; Xiaoshun WANG ; Rui GUAN ; Hong YU ; Xin SONG ; Binshuo HU ; Zhihui WANG ; Xiaowen DING ; Dongsheng NIU ; Tenglong YAN ; Huadong XU
China Occupational Medicine 2025;52(2):150-154
Objective To analyze the prevalence status of cardiometabolic risk factor (CMRF) and its aggregation among workers engaged in new forms of employment. Methods A total of 5 429 new employment workers (including couriers, online food delivery workers, and ride hailing drivers) who underwent health medical examinations at a tertiary hospital in Beijing City were selected as the research subjects using the judgment sampling method. Data on waist circumference, blood pressure, blood glucose, and blood lipid levels were collected to analyze their CMRF [central obesity, elevated blood pressure, elevated blood glucose, elevated triglycerides, and reduced high-density lipoprotein cholesterol (HDL-C)] and their aggregation (with ≥ 2 of the above 5 risk factors) status. Results The detection rates of central obesity, elevated blood pressure, elevated blood glucose, elevated triglycerides, and reduced HDL-C were 61.2%, 38.2%, 29.5%, 40.9% and 22.6%, respectively. The detection rates of CMRF aggregation was 57.8%. The result of multivariable logistic regression analysis showed that male, age ≥45 years, smoking, overweight, and obesity were risk factors for CMRF aggregation (all P<0.05). Conclusion The detection rate of CMRF and its aggregation among workers with new forms of employment in Beijing City is relatively high. Targeted prevention and control efforts should be strengthened for high-risk populations, especially males, workers aged ≥45 years, smokers, and those who are overweight or obese.
3.Role of artificial intelligence in medical image analysis.
Lu WANG ; Shimin ZHANG ; Nan XU ; Qianqian HE ; Yuming ZHU ; Zhihui CHANG ; Yanan WU ; Huihan WANG ; Shouliang QI ; Lina ZHANG ; Yu SHI ; Xiujuan QU ; Xin ZHOU ; Jiangdian SONG
Chinese Medical Journal 2025;138(22):2879-2894
With the emergence of deep learning techniques based on convolutional neural networks, artificial intelligence (AI) has driven transformative developments in the field of medical image analysis. Recently, large language models (LLMs) such as ChatGPT have also started to achieve distinction in this domain. Increasing research shows the undeniable role of AI in reshaping various aspects of medical image analysis, including processes such as image enhancement, segmentation, detection in image preprocessing, and postprocessing related to medical diagnosis and prognosis in clinical settings. However, despite the significant progress in AI research, studies investigating the recent advances in AI technology in the aforementioned aspects, the changes in research hotspot trajectories, and the performance of studies in addressing key clinical challenges in this field are limited. This article provides an overview of recent advances in AI for medical image analysis and discusses the methodological profiles, advantages, disadvantages, and future trends of AI technologies.
Artificial Intelligence
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Humans
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Image Processing, Computer-Assisted/methods*
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Neural Networks, Computer
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Deep Learning
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Diagnostic Imaging/methods*
4.Observation of morphological and molecular biological changes of nasal mucosa in patients with type 2 inflammation chronic rhinosinusitis with nasal polyps after Reboot surgery.
Xubo CHEN ; Xinhua ZHU ; Yu ZHU ; Zheng ZHOU ; Zhihui FU ; Hongbing LIU
Journal of Clinical Otorhinolaryngology Head and Neck Surgery 2025;39(9):809-816
Objective:To explore the effect, postoperative mucosal pathological changes and molecular biological changes of reboot operation for type 2 inflammation chronic rhinosinusitis with nasal polyps(CRSwNP) patients, and to provide theoretical basis for the clinical application of this kind of operation. Methods:We collected 29 patients who were diagnosed with CRSwNP with type 2 inflammatino response and underwent Reboot surgery from June 2022 to August 2023, and 27 patients who were diagnosed with deviated septum and underwent simple submucosal resection of the septum as the control group. We conducted nasal symptom scoring, endoscopic sinusitis scoring, and CT scanning of the sinuses before and after surgery, as well as HE staining, immunohistochemical staining, and detection of inflammatory factors using Elisa kits at the time of surgery, 1, 3, and 6 months postoperatively. We also observed the ultrastructural changes using transmission electron microscopy and scanning electron microscopy, and performed proteomic analysis of the mucosa in the ethmoid sinus area of the sinusitis patients at the time of surgery and 6 months postoperatively. Results:After 6 months of postoperative follow-up, CT scores of the nasal cavity and sinuses had gradually decreased compared with the preoperative period. The VAS score of main symptoms, SNOT-22 score and Lund-Kennedy endoscopic score were decreased after 12 months follow-up. The histological morphology of the mucosa in the area of the screen was significantly improved compared with the preoperative period, with a reduction in the number of eosinophils. The levels of inflammatory factors such as IL-4 and IL-5 et al. in the mucosa of the area of the screen were gradually reduced compared with the preoperative period. The histological morphology, ultrastructure, and cilia structure of the mucosa in the area of the screen were gradually improved compared with the preoperative period, though not recovered completely. The number of CD4⁺T and CD8⁺T cells not changed significantly before and after the surgery yet. By conducting proteomic analysis of the ethmoidal sinus mucosa before and after surgery, differential proteins were selected, and bioinformatics analysis was conducted on the differentially expressed proteins. By using cytoHubba to identify hub genes and intersecting them with the genes related to chronic sinusitis, we found that MMP9 expression increased in non-type 2 CRS and type 2 CRS in sequence, while ACTC1 expression decreased in non-tpye 2 CRS and type 2 CRS in sequence. Conclusion:Reboot surgery can improve the postoperative symptoms and signs of patients, improve the pathological morphology of the mucosa, and influence the expression of protein after surgery. However, the surgery may not have a significant impact on the distribution of T cell subpopulations and inflammation signal pathway in the nasal mucosa.
Humans
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Sinusitis/metabolism*
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Nasal Polyps/metabolism*
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Nasal Mucosa/ultrastructure*
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Chronic Disease
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Rhinitis/complications*
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Inflammation
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Male
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Female
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Postoperative Period
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Adult
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Interleukin-5/metabolism*
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Interleukin-4/metabolism*
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Middle Aged
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Proteomics
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Rhinosinusitis
5.Identification of HMA gene family and response to cadmium stress in Ophiopogon japonicas.
Zhihui WANG ; Erli NIU ; Yuanliang GAO ; Qian ZHU ; Zihong YE ; Xiaoping YU ; Qian ZHAO ; Jun HUANG
Chinese Journal of Biotechnology 2025;41(2):771-790
Soil cadmium (Cd) pollution is one of the major environmental problems globally. Ophiopogon japonicus, a multifunctional plant extensively used in traditional Chinese medicine, has demonstrated potential in environmental remediation. This study investigated the Cd accumulation pattern of O. japonicus under cadmium stress and identified the heavy metal ATPase (HMA) family members in this plant. Our results demonstrated that O. japonicus exhibited a Cd enrichment factor (EF) of 2.75, demonstrating strong potential for soil Cd pollution remediation. Nine heavy metal ATPase (HMA) members of P1B-ATPases were successfully identified from the transcriptome data of O. japonicus, with OjHMA1-OjHMA6 classified as the Zn/Co/Cd/Pb-ATPases and OjHMA7-OjHMA9 as the Cu/Ag-ATPases. The expression levels of OjHMA1, OjHMA2, OjHMA3, and OjHMA7 were significantly up-regulated under Cd stress, highlighting their crucial roles in cadmium ion absorption and transport. The topological analysis revealed that these proteins possessed characteristic transmembrane (TM) segments of the family, along with functional A, P, and N domains involved in regulating ion absorption and release. Metal ion-binding sites (M4, M5, and M6) existed on the TM segments. Based on the number of transmembrane domains and the residues at metal ion-binding sites, the plant HMA family members were categorized into three subgroups: P1B-1 ATPases, P1B-2 ATPases, and P1B-4 ATPases. Specifically, the P1B-1 ATPase subgroup included the motifs TM4(CPC), TM5(YN[X]4P), and TM6(M[XX]SS); the P1B-2 ATPase subgroup featured the motifs TM4(CPC), TM5(K), and TM6(DKTGT); the P1B-4 ATPase subgroup contained the motifs TM4(SPC) and TM6(HE[X]GT), all of which were critical for protein functions. Molecular docking results revealed the importance of conserved sequences such as CPC/SPC, DKTGT, and HE[X]GT in metal ion coordination and stabilization. These findings provide potential molecular targets for enhancing Cd uptake and tolerance of O. japonicus by genetic engineering and lay a theoretical foundation for developing new cultivars with high Cd accumulation capacity.
Cadmium/metabolism*
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Adenosine Triphosphatases/metabolism*
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Ophiopogon/drug effects*
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Soil Pollutants/toxicity*
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Plant Proteins/metabolism*
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Stress, Physiological
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Multigene Family
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Gene Expression Regulation, Plant
6.Screening and bioinformatics analysis of SNP in PPARGC1B gene of Sichuan Yak
Xuanxu CHEN ; Xinyi JIANG ; Jinghao PENG ; Jing LI ; Fengshuai MIAO ; Zhihui ZHAO ; Haibin YU ; Weizhong LAI ; Ping JIANG ; Ziwei LIN
Chinese Journal of Veterinary Science 2024;44(10):2179-2189
The peroxisome proliferator-activated receptor gamma(peroxisome proliferator-activated receptor gamma,coactivator 1 beta,PPARGC1B)gene is an intranuclear receptor transcription fac-tor responsible for regulating the expression of target genes.To comprehend the characteristics and mutations of the PPARGC1B gene within the Sichuan yak population,the SNP loci of the PPARGC1B gene were identified through direct sequencing of PCR products.Additionally,the cod-ing region of the PPARGC1B gene was obtained via PCR amplification and sequencing.Bioinforma-tics analyses were conducted to predict protein-coding and mRNA secondary structure.This study identified four exon SNP mutation sites(E9-189A→C,E9-387G→A,E9-542C→T,and E9-554T→C)based on the single nucleotide polymorphism analysis of the PPARGC1B gene in Sichuan yaks.Notably,the E9-387G→A and E9-554T→C loci exhibited significant correlations with shear force and backfat thickness in Sichuan yaks.Subsequently,bioinformatics analysis of the four mutation sites revealed that the PPARGC1B protein is an acidic,unstable,non-transmembrane,and non-secretory hydrophilic protein with a coiled helix structure.It lacks a signal peptide and transmembrane region,predominantly functions in the nucleus,and features 106 phosphorylation sites,one glycosylation site,and one conserved RRM structure.The secondary structure comprises mainly α-helix and random coils.Although the protein structure of the PPARGC1B gene remained unchanged post-mutation,there were significant differences in mRNA secondary structure.These findings suggest that the polymorphic loci of the PPARGC1B gene in Sichuan yaks could serve as a theoretical basis for enhancing meat quality traits through molecular biological methods,presen-ting practical applications in breeding.
7.Genetic polymorphism of ACOX1 gene and its correlation with milk quality traits in China Holstein dairy cows
Yurong HAO ; Zhihui ZHAO ; Tao YOU ; Haibin YU ; Guanghui LI ; Ping JIANG ; Ziwei LIN
Chinese Journal of Veterinary Science 2024;44(10):2260-2265
The SNP loci of ACOX1 gene in 83 China Holstein cows were detected by PCR amplifica-tion and direct sequencing,and the association between the genetic polymorphism loci of ACOX 1 gene and milk quality traits of China Holstein cows was analyzed by SPSS 25.0 software.The re-sults showed that a SNP locus I3-2 267 G→C was found in the third intron of ACOX1 gene,it was moderately polymorphic and in Hardy Weinberg equilibrium in the population.By correlation anal-ysis,it was found that the SNP locus was significantly related to the somatic cell content and cor-rected milk quantity of dairy cows.The I3-2 267 G→C locus of ACOX1 gene can be used as a mo-lecular marker of quality traits of Holstein cows in China,and provide reference for the study of quality traits of Holstein cows in China.
8.Polymorphism analysis of PPP1R15A gene in Chinese Holstein cattle and its asso-ciation with milk production traits
Qiwen LU ; Quanheng GUO ; Panpan XU ; Yisan HUANG ; Haibin YU ; Ziwei LIN ; Zhihui ZHAO ; Ping JIANG
Chinese Journal of Veterinary Science 2024;44(11):2458-2462
The gene encoding regulatory subunit 15 A of protein phosphatase 1 produces a protein that is a universally present protein phosphatase in eukaryotic cells.In this study,genomic DNAs were extracted from the blood of 89 Chinese Holstein cows and were used as templates for PCR amplification of the target fragment of the PPP1R15A gene.The product was tested and a polymor-phic site,E3-250T>A was found.The polymorphism of this side and its correlation with milk pro-duction traits in Chinese Holstein cattle were statistically analyzed using SPSS 23.0 software.The findings revealed three genotypes at this site:AA,AT and TT.Cows possessing the AT and TT genotypes exhibited significant differences(P<0.01)in milk fat and solid non-fat content com-pared to those with the AA genotype.While no significant differences were noted for other milk production traits,including milk yield,protein,lactose,somatic cell count,blood urea nitrogen,and corrected milk.The identification of functional SNPs in the PPP1R15A gene provides a theoretical basis for further research and identification of causal variations in the cow PPP1R15A gene.
9.The value of CT imaging in the diagnosis of sinus venosus atrial septal defect
Lu YU ; Zhihui HOU ; Lei HAN ; Yunqiang AN ; Guanxi WANG ; Yedan LI ; Bin LYU
Chinese Journal of Radiology 2024;58(10):1028-1034
Objective:To compare the value of coronary CT angiography, congenital heart disease CT, and transthoracic echocardiography (TTE) in the diagnosis of sinus venosus atrial septal defect (SVASD), to summarize the CT image features of SVASD, and to explore its significance in guiding the selection of surgical procedures.Methods:A total of 443 patients of SVASD diagnosed by surgical procedures from January 2017 to December 2021 were retrospectively analyzed. All patients underwent coronary CT angiography or congenital heart disease CT examination and TTE before surgery. Using surgical results as the gold standard, McNemar test was used to analyze the differences between CT and TTE in distinguishing SVASD and pulmonary venous drainage. The difference of pulmonary venosus drainage was analyzed between superior sinus venosus atrial septal defect (ASD) and inferior sinus venosus ASD. The image features of SVASD were summarized and the corresponding surgical procedures were analyzed.Results:No significant difference was found between CT and TTE for the diagnostic accuracy of the SVASD (63.21%, 57.56%, P=0.065). There were 159 patients (35.89%) with PAPVC and 284 patients (64.11%) without PAPVC in the 443 SVASD patients. The diagnostic accuracy of CT and TTE in diagnosing pulmonary venous drainage was statistically significantly different (98.42%, 73.81%, P<0.001). Among 145 patients with superior sinus venosus ASD, 101 (69.66%) were associated with PAPVC; in contrast, among 298 patients with inferior sinus venosus ASD, 58 (19.46%) had PAPVC. The difference between the two groups was statistically significant ( χ 2=106.79, P<0.001), indicating a higher prevalence of PAPVC in patients with superior sinus venosus ASD. The CT imaging features of SVASD can be categorized into four types. The first type was SVASD alone without PAPVC, comprising 284 patients (64.11%). Surgical intervention for this type typically involved direct suturing or closure using a patch. The second type was SVASD with concomitant PAPVC, encompassing 151 patients (34.09%). This type included superior sinus venosus ASD with anomalous pulmonary venous low connection and inferior sinus venosus ASD with PAPVC. During the repair of the defect, it was necessary to redirect the anomalous pulmonary veins into the left atrium. The third type was superior sinus venosus ASD in 7 patients (1.58%). The position of pulmonary vein draining into superior vena cava was too high to be directly corrected to the left atrium, requiring Warden′s technique. The fourth type was rare (1 patient, 0.22%). The anomalous pulmonary vein drained into the coronary sinus. The surgery included incision of the roof of the coronary sinus to redirect pulmonary vein flow to the left atrium, reconstruction of the roof of the sinus to drain coronary vein back to the right atrium, and repair of the ASD. Conclusions:Both CT and TTE can diagnose the type of SVASD, and CT is more accurate than TTE in the diagnosis of PAPVC. CT image features of SVASD can provide valuable information for surgical procedures and guide the selection of surgical procedures.
10.Development and reliability and validity tests of Oral Health Caring Ability Assessment Scale for Caregivers of Infants and Young Children
Liu YANG ; Zhihui LI ; Yan KONG ; Guiling YU
Chinese Journal of Nursing 2024;59(10):1218-1225
Objective To develop an Oral Health Caring Ability Assessment Scale for Infants and Young Children Caregivers and test its reliability and validity,so as to provide a scientific tool for assessing the oral health caring ability of them.Methods Based on the IMB Skills Model,the initial version of the scale was formed through literature review,expert consultation,and pre-investigation.From May to July 2023,a total of 218 caregivers of infants and young children who were treated in the child health department of a tertiary A specialized hospital in Qingdao were selected by convenience sampling for project analysis and reliability and validity test.From August to September 2023,we selected 330 caregivers of infants and young children who were treated in the child health department of 3 tertiary A general hospitals in Shandong and Hunan Provinces by convenience sampling to further verify the stability of the scale structure.Results The Oral Health Caring Ability Assessment Scale for Caregivers of Infants and Young Children included 4 dimensions,including feeding knowledge,oral cleaning and examination knowledge,oral health caring attitude and oral health caring behavior skills,with a total of 27 items.According to exploratory factor analysis,4 common factors were extracted and the cumulative variance contribution rate was 62.022%.The Cronbach's α coefficient of the questionnaire was 0.938;the split-half reliability was 0.774;the test-retest reliability was 0.990.The content validity index at the scale level was 0.957,and the content validity index at the item level was 0.833-1.000.Confirmatory factor analysis showed that the model fitted well and the factor structure of the scale was stable.Conclusion The Oral Health Caring Ability Assessment Scale for Caregivers of Infants and Young Children has good reliability and validity,which can be used to assess the level of oral health caring ability for caregivers of infants and young children accurately.

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