1.Bioinformatics analysis on molecular subtypes and clinical characteristics of head and neck squamous cell carcinoma based on genes associated with lactate metabolism
Zixu YANG ; Chang SU ; Boyuan WANG ; Chong LIU ; Minghe LI
Journal of Jilin University(Medicine Edition) 2024;50(1):198-207
Objective:To select the differential prognostic lactic acid metabolism-related genes(LRGs)of the head and neck squamous cell carcinoma(HNSCC)to construct the LRGs prognostic model of HNSCC,and to clarify the potential mechanism.Methods:The HNSCC gene expression and clinical data were obtained from The Cancer Genome Atlas(TCGA)and Gene Expression Omnibus(GEO)Databases,the LRGs were identified through GeneCards Database,and R software was used to screen out the LRGs of HNSCC;univariate Cox regression analysis was used to identify prognosis-related genes;two different subtypes were identified based on the prognostis-related LRGs;Kaplan-Meier(K-M)curve analysis was used to compare the prognosis of the patients between two groups;CIBERSORT algorithm was used to perform the immuno-correlation analysis between two groups;multivariate Cox regression analysis and LASSO regression analysis were used to construct the prognostic model;receiver operating characteristic curve(ROC)and K-M survival curve were used to assess the relationship between LRGs and survival and prognosis of the HNSCC patients.The prognostic model was validated by GSE27020,GSE41613,and GSE65858 datasets.The experiment were grouped based on risk score,and immune-related analysis and tumor score analysis were performed.Results:The TCGA Database differential analysis results showed that 1 196 LRGs were identified from HNSCC samples;univariate Cox regression analysis selected 27 differentially expressed genes(DEGs)associated with the prognosis of the HNSCC patients.Two different LRGs subtypes(Group 1 and Group 2)were identified according to the prognosis-related genes.The K-M survival curves results showed that the overall survival(OS)of the patients in Group 2 was significantly higher than that in Group 1,and the immune cell expression amount of the patients in Group 2 was also higher than that in group 1.The multivariate Cox regression and LASSO regression analysis results screened out 9 LRGs,including hypoxanthine phosphoribosyltransferase 1(HPRT1),amyloid precursor protein(APP),glycogen phosphorylase L(PYGL),urokinase-type plasminogen activator(PLAU),cannabinoid receptor 2(CNR2),stanniocalcin 2(STC2),nucleotide binding oligomerization domain-like receptor protein 1(NLRP1),integrin-linked kinase(ILK),and forkhead box B1(FOXB1);the prognostic model was constructed.The K-M and ROC curve results indicated that the expression levels of above 9 genes were associated with the survival and prognosis of the HNSCC patients,providing good 1-year,2-year,and 3-year survival prediction effect,and the area under ROC curve(AUC)values were all greater than 0.650.Furthermore,the predictive ability of the prognosis model was validated in GSE27020,GSE41613,and GSE65858 datasets.The patients classified based on the risk scores had distinguishable immune statuses.Conclusion:The differentially expressed LRGs of HNSCC screened by bioinformatics methods are related to the survival and prognosis of the HNSCC patients;the prognostic model constructed by 9 LRGs can predict the survival status and treatment response of the HNSCC patients.
2.Construction of the clinical practice pathway for narrative medicine in traditional Chinese medicine
Zixu WANG ; Jingjing ZHAO ; Yipin LIU ; Jie LI ; Qiuli YANG ; Yongyan WANG
Chinese Medical Ethics 2024;37(11):1251-1262
Objective:To construct the clinical practice pathway for narrative medicine in traditional Chinese medicine(TCM),with a view to providing clinical practice guidelines for narrative medicine in TCM for frontline practitioners.Methods:Using the realistic literature review and the Nominal Group Technique(NGT),the paper systematically sorted out the practices of humanistic care in ancient Chinese medical books and famous medical cases,as well as constructed the first draft of the clinical practice pathway and details for narrative medicine in TCM.Subsequently,experts from multiple fields were invited to demonstrate by using the NGT.After in-depth discussion and collective voting,various operational modules,and their detailed rules and supporting tools were determined,thus completing the construction of the entire practical pathway.Results:A complete set of clinical practice pathways for narrative medicine in TCM had been established.It encompassed six core modules,including"start of diagnosis and treatment","communication of disease conditions","diagnosis and explanation","joint decision-making","end of diagnosis and treatment",and"reflection and summary".Besides,detailed operating rules and supporting tools were also provided.Conclusion:The clinical practice pathway for narrative medicine in TCM integrates the humanistic spirit of TCM,the core concepts of narrative medicine,and the communication skills of psychology,providing medical workers with standardized,procedural,and operationally flexible practice guidance,which helps both doctors and patients to better communicate,empathize,and make joint decisions throughout the entire process of diagnosis and treatment.
3.Effect of birth parity on life expectancy and healthy life expectancy among rural women
Huanxiang ZHANG ; Feng JIANG ; Hui LI ; Xiaoqiong WANG ; Xiaotian LIU ; Yali WANG ; Zixu LI ; Runxin LI ; Wenjie YANG ; Chongjian WANG
Chinese Journal of Preventive Medicine 2024;58(11):1684-1689
Objective:To analyze the effect of birth parity on life expectancy (LE) and healthy life expectancy (HLE) among rural women.Method:A total of 15 304 women aged 40 to 79 years who participated in baseline and follow-up surveys were selected from a rural cohort in Henan province. The LE and HLE of women with different birth parity were calculated by using multi-state life table.Results:There were 1 195 (7.8%), 7 782 (50.8%), 3 867 (25.3%) and 2 460 (16.1%) women with 1, 2, 3 and 4 birth parities, respectively, and the M ( Q1 and Q3) of age were 50.3 (47.3, 53.4) and 53.3 (48.8, 60.7), 62.6 (55.4, 66.9) and 69.5 (64.7, 73.4) years old, respectively. LE at 40 years old was 44.5, 44.8, 45.1 and 45.4 years old, and HLE was 17.7, 18.3, 18.8 and 19.3 years old, respectively. LE at age 40 increased by 0.3, 0.6, and 0.9 years in women with 2, 3, and 4 birth parities or more and HLE increased by 0.5, 1.1, and 1.6 years, respectively, compared with women with 1 birth parity. For women with higher and lower socioeconomic status who had 4 birth parities or more, the LE at age 40 was 47.1 and 43.9 years, respectively, an increase of 0.2 and 0.1 years over women with 1 birth parity, respectively; and the HLE was 20.4 and 18.7 years, respectively, an increase of 1.4 and 1.3 years over women with 1 birth parity, respectively. Conclusion:LE and HLE show an upward trend with the increase of birth parity among rural women.
4.Effect of birth parity on life expectancy and healthy life expectancy among rural women
Huanxiang ZHANG ; Feng JIANG ; Hui LI ; Xiaoqiong WANG ; Xiaotian LIU ; Yali WANG ; Zixu LI ; Runxin LI ; Wenjie YANG ; Chongjian WANG
Chinese Journal of Preventive Medicine 2024;58(11):1684-1689
Objective:To analyze the effect of birth parity on life expectancy (LE) and healthy life expectancy (HLE) among rural women.Method:A total of 15 304 women aged 40 to 79 years who participated in baseline and follow-up surveys were selected from a rural cohort in Henan province. The LE and HLE of women with different birth parity were calculated by using multi-state life table.Results:There were 1 195 (7.8%), 7 782 (50.8%), 3 867 (25.3%) and 2 460 (16.1%) women with 1, 2, 3 and 4 birth parities, respectively, and the M ( Q1 and Q3) of age were 50.3 (47.3, 53.4) and 53.3 (48.8, 60.7), 62.6 (55.4, 66.9) and 69.5 (64.7, 73.4) years old, respectively. LE at 40 years old was 44.5, 44.8, 45.1 and 45.4 years old, and HLE was 17.7, 18.3, 18.8 and 19.3 years old, respectively. LE at age 40 increased by 0.3, 0.6, and 0.9 years in women with 2, 3, and 4 birth parities or more and HLE increased by 0.5, 1.1, and 1.6 years, respectively, compared with women with 1 birth parity. For women with higher and lower socioeconomic status who had 4 birth parities or more, the LE at age 40 was 47.1 and 43.9 years, respectively, an increase of 0.2 and 0.1 years over women with 1 birth parity, respectively; and the HLE was 20.4 and 18.7 years, respectively, an increase of 1.4 and 1.3 years over women with 1 birth parity, respectively. Conclusion:LE and HLE show an upward trend with the increase of birth parity among rural women.
5.Clinical phenotype and genotype analysis of a Chinese family with congenital aniridia caused by a novel frameshift and nonsense variant in PAX6
Dongdong WANG ; Jiao DU ; Zixu HUANG ; Handong DAN ; Zuopeng LIN ; Zongming SONG
Chinese Journal of Experimental Ophthalmology 2024;42(10):927-931
Objective:To analyze the clinical manifestations and explore the etiology in a family with congenital aniridia and to analyze the influence of candidate variants on the protein structure.Methods:A pedigree investigation was performed.A Han Chinese family with congenital aniridia of two generations consisting of three members from Henan Province, including one patient diagnosed with congenital aniridia, was identified and studied following their admission to Henan Eye Hospital in June 2023.A thorough medical history was obtained for the patient and their family members.Comprehensive ophthalmologic examinations were conducted, including visual acuity, intraocular pressure, anterior segment photography, color fundus photography, ultrasound biomicroscopy, and optical coherence tomography, etc.Peripheral blood samples were obtained from the family members and whole exome sequencing (WES) was performed on the patient and validated by Sanger sequencing for other members.The pathogenicity and protein structure of newly identified variant sites were analyzed.This study adhered to the Declaration of Helsinki.The study protocol was approved by the Ethics Committee of Henan Eye Hospital (No.HNEECKY-2023[06]).Written informed consent was obtained from each subject.Results:The proband is a 23-year-old male presenting with poor binocular vision, aniridia, corneal degeneration, mild lens opacity, shallow anterior chamber, elevated intraocular pressure, peripheral retinal degeneration, and macular dysplasia.The clinical phenotype of the proband's parents did not show any significant abnormality.WES identified a heterozygous frameshift and nonsense varint c. 734_735del (p.Arg245Asnfs*20) in exon 10 of the PAX6 gene, which consisited of two bases deletion at positions 734 to 735, resulting in the mutation of its arginine at position 245 to asparagine and the early appearance of a termination codon at the next 19 amino acids.The variant had not been identified in the HGMD, Clinvar, 1 000 Genomes, and gnomAD databases.Neither of the proband's parents carried the variant, consistent with the pattern of family co-segregation.Substructural analysis using the SMART tool indicated that the variant is situated within the HOX domain.Amino acid conservation analysis demonstrated that the arginine residue at position 245 in the PAX6 gene is highly conserved across multiple species, including human, house mouse, domestic dog, African clawed frog, and macaque.The variant was classified as pathogenic (PVS1+ PS2+ PM2+ PP3) based on the ACMG standards and guidelines for the interpretation of sequence variants.Protein structure analysis revealed the absence of both the homologous domain and the proline-serine-threonine-rich domain in the PAX6 protein. Conclusions:A novel pathogenic variant, c.734_735del (p.Arg245Asnfs*20), in the PAX6 gene has been identified in a family affected by congenital aniridia.This variant results in the deletion of both the PAX6 protein homology domain and the proline-serine-threonine-rich domain.
6.Recent advance in oxidative stress after intracranial hemorrhage
Xiaoqi YANG ; Jianlin DING ; Zhong WANG ; Yijiang LI ; Junchi WANG ; Xuehai DENG ; Zixu WANG ; Yiqian CHEN ; Long ZHAO
Chinese Journal of Neuromedicine 2024;23(10):1043-1049
Intracerebral hemorrhage (ICH) is a hemorrhagic cerebrovascular disease with high incidence and mortality. Oxidative stress response plays an important role in the pathological and physiological processes of ICH, and is also a potential effective target for clinical treatment. In this paper, the pathogenesis of oxidative stress after ICH, mechanism of nerve and vascular injury in oxidative stress, and detection and treatment of oxidative stress are reviewed in order to provide references for basic research and clinical practice in ICH.
7.The effect of vitrectomy in the treatment of different types of chorioretinal coloboma with retinal detachment
Jiao DU ; Xiaoli LI ; Zun ZHAO ; Dongdong WANG ; Handong DAN ; Pingling SHI ; Zixu HUANG ; Suhan WANG ; Qiongqiong YUAN ; Zongming SONG
Chinese Journal of Ocular Fundus Diseases 2023;39(12):969-973
Objective:To observe the efficacy of pars plana vitrectomy (PPV) in the treatment of different types of chorioretinal coloboma with retinal detachment (RD).Methods:A single-center, retrospective clinical study. From April 2021 to March 2023, 24 eyes of 23 patients who were diagnosed as chorioretinal coloboma with RD in Henan Provincial Eye Hospital were included in this study. There were 11 males with 12 eyes and 12 females with 12 eyes. The mean age was (33.3±13.7) years old. Best corrected visual acuity (BCVA), spectral domain optical coherence tomography were performed. The BCVA examination was performed using a international standard logarithmic visual acuity chart, which was converted into logarithm of the minimum angle of resolution (logMAR) visual acuity during statistics. According to the types of chorioretinal coloboma, the affected eyes were divided into the coloboma involved the optic disc group and the coloboma not involved the optic disc group, with 15 eyes and 9 eyes. According to whether the RD containing the coloboma area, the affected eyes were divided into RD containing the coloboma area group and the RD not containing the coloboma area group, with 15 eyes and 9 eyes. All eyes underwent standard pars plana three-channel 25G PPV, retinal laser photocoagulation combined with silicone oil tamponade. The follow-up time after surgery was (19.5±16.3) months. The last follow-up was the time point for efficacy determination. The retinal reattachment, BCVA recovery and postoperative complications were observed. Paired t-test or t test was performed for comparison of quantitative data. Fisher's exact test was performed for comparison of qualitative data. Results:At the last follow-up, retinal reattachment was achieved in 20 eyes (83.3%, 20/24). The logMAR BCVA of the coloboma involved the optic disc group before and after surgery were 1.85±0.62 and 1.71±0.71, the difference was no significant ( t=0.845 , P=0.412). The logMAR BCVA of the coloboma not involved the optic disc group before and after surgery were 1.75±0.45 and 0.84±0.26, the difference was statistically significant ( t=6.153 , P<0.001). The improvement of BCVA in the coloboma not involved the optic disc group was significantly higher than that in the coloboma involved the optic disc group after surgery, with statistically significant differences ( t=3.024 , P=0.006). There was no significant difference in the retinal reattachment rate between the two groups ( P=0.615). There was no significant difference in the retinal reattachment rate between the RD containing the coloboma area group and the RD not containing the coloboma area group ( P=0.259). Postoperative complications included elevated intraocular pressure in five eyes, cataract progression in ten eyes, recurrent RD in two eyes, bullous keratopathy in one eye and band-shaped keratopathy in one eye. Conclusion:PPV combined with silicone oil tamponade is safe and effective in the treatment of chorioretinal coloboma with RD, the improvement of visual acuity in the coloboma not involved the optic disc group is better than that in the coloboma involved the optic disc group after surgery.
8.Qualitative Research on the Influence of Narrative Medicine Practice on the Professional Identity of Postgraduates Majoring in Traditional Chinese Medicine
Jingjing ZHAO ; Qiuli YANG ; Zixu WANG
Chinese Medical Ethics 2023;36(11):1191-1199
【Objective:】 To explore the practice experience of narrative medicine among postgraduates majoring in Traditional Chinese Medicine (TCM) and its impact on their professional identity. 【Methods:】 A total of 56 first-year master’s and doctoral degree students majoring in TCM at a university were selected through purposive sampling for a 16-hour narrative medicine course training and 4 weeks of clinical practice in narrative medicine. They were asked to complete an open-ended writing assignment on their practical experience after this clinical practice. Subsequently, the topic analysis method in qualitative research was used to analyze their writing contents. 【Results:】 After learning narrative medicine, the students’ practical experience in clinical practice included 3 major themes and 9 sub-themes: wide application range (all diagnosis and treatment stages, multiple departments, and disease types), integration of multiple communication skills and diagnosis and treatment methods (communication skills, psychological techniques, reflection, and TCM humanistic diagnosis and treatment methods), and increasing professional identity (achieving mutual healing, building the harmonious doctor-patient relationship, and enhancing confidence in TCM). The themes were further integrated to form the relationship between the narrative medical practice cycle and professional identity, and presented in the form of charts. 【Conclusion:】 By exploring the narrative medical practice experience among TCM postgraduates, it was found that through the use of multiple methods and techniques in the entire diagnosis and treatment stage and multi-disciplinary diseases, it is possible to harmonize the doctor-patient relationship, achieve mutual healing, and enhance confidence in TCM. These internalized recognition and sense of achievement contributes to improving professional identity, which may provide new ideas for the development of professional identity for medical students in China and the exploration of the localization of narrative medical practice.
9.Guidelines for Psychological Rehabilitation Intervention Combined Integrated Traditional Chinese and Western Medicine After Radical Surgery for Early and Middle Stage Colorectal Cancer
Yufei YANG ; Lili TANG ; Lingyun SUN ; Ying PANG ; Zixu WANG ; Qiuli YANG ; Yun XU ; Haibo ZHANG ; Peng SHU ; Yutong FEI ; Rongyan PENG ; Jiaxi LIU
Chinese Journal of Experimental Traditional Medical Formulae 2023;29(21):10-23
In recent years, the incidence of colorectal cancer has been rising in China, and with the promotion of early screening and early diagnosis, most colorectal cancers are able to achieve long-term survival through timely diagnosis and treatment. Nevertheless, 30%-70% of patients with early to mid-stage colorectal cancer after radical surgery still have psychological problems such as anxiety, depression, and fear of recurrence and metastasis, and they hope to seek help from traditional Chinese medicine(TCM) treatment. In order to further standardize the integrated traditional Chinese and western medicine psychological rehabilitation interventions of stage Ⅰ-Ⅲ colorectal cancer after radical surgery, and to improve the diagnosis and treatment level, under the support of the pilot project of clinical collaboration between Chinese and western medicine for major and difficult diseases of National Administration of TCM, experts in oncology, integrated Chinese and western medicine, psychology, surgery, nursing, evidence-based medicine and other disciplines from 10 units nationwide participated in the work, led by Xiyuan Hospital,China Academy of Chinese Medical Sciences and Beijing Cancer Hospital. Based on the methodology and process of guideline development of the World Health Organization Handbook for Guideline Development and the Regulations for Group Standards of China Association of Chinese Medicine, the Guidelines for Psychological Rehabilitation Intervention Combined Integrated Traditional Chinese and Western Medicine After Radical Surgery for Early and Middle Stage Colorectal Cancer have been developed according to the current best evidence, extensive consultation with clinical experts and following the situation of current clinical practice. The guideline provides the psychological characteristics, the needs and willingness to accept psychological rehabilitation, the interventions for psychological rehabilitation, evaluation of efficacy, follow-up review, educational guidance and others of patients with stage Ⅰ-Ⅲ colorectal cancer after radical surgery. It can provide guidance for TCM(integrated Chinese and western medicine) clinicians and psychologists engaged in the psychological rehabilitation of integrated Chinese and western medicine oncology, especially for doctors in primary medical institutions.
10.Clinicopathological features and prognosis of 47 adults with Hirschsprung's disease and Hirschsprung's disease allied disorders
Yongkang AN ; Zixu YUAN ; Shilei WANG ; Jian CAI
Chinese Journal of Gastrointestinal Surgery 2023;26(12):1154-1161
Objective:To improve understanding and treatment of adult Hirschsprung's disease (HD) and Hirschsprung's disease allied disorders (HAD) by investigating the clinicopatho- logical features, diagnostic and treatment methods, and prognosis.Methods:This was a retrospective observational study. The study cohort comprised patients aged 18-65 years admitted to the Sixth Hospital of Sun Yat-sen University between January 2007 and December 2022 who were diagnosed with adult HD or HAD by postoperative pathological examination. Those with severe cardiovascular disease, diabetes mellitus, or cirrhosis of the liver were excluded, leaving 47 patients in the study cohort. Emergency open surgery was performed on patients with life-threatening manifestations, whereas those whose condition was stable received conservative treatment to stabilize them, following which they underwent a standard surgical procedure. Surgical procedures performed included the Duhamel procedure, Soave procedure, subtotal colonic resection, total colonic resection, and creation of a palliative stoma. Variables studied included clinicopathological characteristics, treatment modalities, postoperative complications, and long-term anal function. Complications were evaluated in accordance with the Clavien-Dindo criteria, and long-term anal function according to the 2005 Krickenbeck International Classification Criteria.Results:Of the 47 patients, 33 were men and 14 women, with a median age of 29 (18–51) years. HD was diagnosed in 41 (87.2%) patients and HAD in six (12.8%). The commonest initial symptom was dyspareunia (70.2%,33/47), followed by abdominal distension (57.4%, 27/47) and abdominal pain (44.7%,21/47). The detection rates of HD/HAD by barium enema + defecography, anorectal manometry, and preoperative rectal biopsy were 86.8% (33/38), 16/19, and 7/7, respectively. Three (6.4%) patients had discrepant preoperative clinical and postoperative pathological diagnoses. None of the three misdiagnosed patients had undergone preoperative rectal biopsy. Of the 47 study patients, three chose non-surgical treatment and 44 surgical treatment. All surgeries were successfully completed. Postoperative complications occurred in 19 patients (43.2%), including one death case who had undergone emergency surgery. The median duration of follow-up after surgery was 65 (12–180) months. Three patients in the surgical treatment group were lost to follow-up. Of the remaining 41 patients, 36, three, and two had excellent, good, and poor long-term anal function, respectively. The differences in outcomes between the surgical and non-surgical treatment groups (no patients, one, and two with excellent, good, and poor long-term anal function, respectively) ( Z=-3.883, P=0.001) were statistically significant. Of the 44 patients who underwent surgical treatment, 41 underwent standard surgeries and three emergency surgeries because their conditions were life-threatening. The difference in complication rate between standard surgery and emergency surgery groups (39.0% [16/41] vs. 3/3, χ 2=2.115, P=0.146) was not statistically significant. However, the rate of postoperative Grade III-V complications was lower in the standard surgery group (4.9% [2/41] vs. 2/3, Z=-2.668, P=0.008). Long-term anal function was significantly better in the standard surgery than emergency surgery group (94.7% [36/38] vs. 0/3, Z=-4.935, P=0.001). The 41 standard surgeries included 11 Duhamel's procedures, six Soave's procedures, 19 subtotal colonic resections, three total colonic resections, and two palliative colostomies. The incidence of postoperative complications was significantly superior in the Duhanmels procedures and palliative colostomies group(1/11 and 0/2, P=0.041). Of the 41 patients who underwent standard surgery, 23 underwent open surgery and 18 minimally invasive laparoscopic surgery. The incidence of postoperative Grade III–V complications and long-term anal function were significantly superior in the laparoscopic group than in the open group (all P<0.05). Conclusion:It is easy to misdiagnose adult HD and HAD, surgical treatment is safe and feasible, and its long-term efficacy is good.

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