1.Congenital myasthenic syndrome caused by COLQ gene mutations: A case report and literature review
Yan CHEN ; Zhixiang ZHANG ; Long MA
Journal of Apoplexy and Nervous Diseases 2025;42(6):558-562
Endovascular interventional therapy is currently the main treatment for acute ischemic stroke,but some patients still have not achieved neurological function independence. Analysis of the predictive value of various factors for postoperative neurological function changes can provide more reference for selecting appropriate patient groups and treatment plans.
2.The Impact of Generative Artificial Intelligence on the Development, Evaluation, and Application of Clinical Practice Guidelines
Xufei LUO ; Han LYU ; Zaiwei SONG ; Hui LIU ; Zhixiang WANG ; Haodong LI ; Ye WANG ; Di ZHU ; Lu ZHANG ; Yaolong CHEN
Medical Journal of Peking Union Medical College Hospital 2024;15(5):1173-1181
Generative artificial intelligence (GAI) refers to AI technology capable of generating new content such as text, images, or audio from training data. GAI tools not only demonstrate rapid and efficient potential in literature screening, data extraction, and literature appraisal in systematic reviews, but can also be used for guideline evaluation and dissemination, enhancing the readability and promotion efficiency of guidelines. However, the accuracy of content generated by GAI tools, the rationality of cited evidence, the level of evidence, and the reliability of data still need verification. Additionally, data privacy protection and ethical issues are challenges that need to be addressed. This article aims to overview the current status of GAI tools in the formulation, evaluation, dissemination, and implementation of guidelines, explore the feasibility and new models of GAI tools in the field of guidelines, and improve the efficiency and quality of guideline formulation to better serve guideline developers and users.
3.Clinical analysis of early Klebsiella pneumoniae infection after liver transplantation
Kezhong ZHENG ; Song CHEN ; Zhixiang HE ; Guobin WANG ; Hongchuan ZHAO ; Xiaoping GENG ; Fan HUANG
Organ Transplantation 2024;15(5):805-815
Objective To identify early Klebsiella pneumoniae(KP)infection after liver transplantation and its impact on prognosis.Methods Clinical data of 171 liver transplant recipients were retrospectively analyzed,and they were divided into the non-infection(n=52)and infection groups(n=119)according to the bacterial culture results at postoperative 2 weeks.In the infection group,KP was not detected in 86 cases(non-KP infection group),and KP was cultured in 33 cases(KP infection group).Preoperative,intraoperative and postoperative data were statistically compared between the non-infection and infection groups,and between the non-KP infection and KP infection groups.The risk factors of early KP infection after liver transplantation and the influencing factors of long-term survival of the recipients were analyzed.Results Compared with the non-infection group,model for end-stage liver disease(MELD)score and total bilirubin level were higher,the operation time was longer,the length of postoperative intensive care unit(ICU)stay and the length of hospital stay were longer,the amount of intraoperative red blood cell transfusion was higher,the hospitalization expense was higher,the incidence of severe complications was higher,white blood cell count,absolute neutrophil cell count and neutrophil-to-lymphocyte ratio at postoperative 14 and 30 d were higher,absolute lymphocyte count at postoperative 14 d was lower and hemoglobin level at postoperative 30 d was lower in the infection group.The differences were statistically significant(all P<0.05).Compared with the non-KP infection group,MELD score,total bilirubin level and aspartate aminotransferase(AST)level were higher,the operation time and the length of postoperative ICU stay were longer,the hospitalization expense was higher,the 90-d fatality was higher,the albumin level at postoperative 14 d was lower,and total bilirubin level at postoperative 30 d was higher in the KP infection group.The differences were statistically significant(all P<0.05).Among 33 recipients with KP infection,16 cases were resistant to carbapenem antibiotics,and 7 of them died within postoperative 90 d.Seventeen cases were intermediate or sensitive to carbapenem antibiotics,and 4 of them died within postoperative 90 d.Preoperative MELD score ≥17 and operation time≥415 min were the independent risk factors for KP infection after liver transplantation(both P<0.05).The length of postoperative ICU stay ≥44 h and KP infection were the independent risk factors for long-term prognosis of liver transplantation(both P<0.05).Conclusions KP infection is an independent risk factor for death after liver transplantation.High preoperative MELD score and long operation time are the independent risk factors for early KP infection after liver transplantation.
4.Gene-age interaction study of breast cancer prognosis based on epigenomic data
Tianlin ZHOU ; Maojie XUE ; Zhixiang DAI ; Ruyang ZHANG ; Feng CHEN
Chinese Journal of Epidemiology 2024;45(7):1007-1013
Objective:Exploring gene-age interactions associated with breast cancer prognosis based on epigenomic data.Methods:Differential expression analysis of DNA methylation was conducted using multiple independent epigenomic datasets of breast cancer from The Cancer Genome Atlas (TCGA) and Gene Expression Omnibus (GEO). The false discovery rate (FDR) method was used for multiple corrections, retaining differentially methylated sites with q-FDR≤0.05. A three-stage analytic strategy was implemented, using a multivariable Cox proportional hazards regression model to examine gene-age interactions. In the discovery phase, signals with q-FDR ≤ 0.05 were screened out using TCGA-BRCA database. In validation phaseⅠ, the interaction was validated using GSE72245 data, with criteria of P≤0.05 and consistent effect direction. In validation phaseⅡ, the signals were further validated using GSE37754 and GSE75067 data. A prognostic prediction model was constructed by incorporating clinical indicators and interaction signals. Results:The three-stage analytic strategy identified a methylation site (cg16126280 EBF1), which interacted with age to jointly affect the overall survival time of patients (interaction HR= 1.001 1,95% CI:1.000 7-1.001 5, P<0.001). Stratified analysis by age showed that the effect of hypermethylation of cg16126280 EBF1 was completely opposite in younger patients ( HR=0.550 5, 95% CI: 0.383 8-0.789 6, P=0.001) and older patients ( HR=2.166 5, 95% CI: 1.285 2-3.652 2, P=0.004). Conclusions:The DNA methylation site cg16126280 EBF1 exhibits an interaction with age, jointly influencing the prognosis of breast cancer in a complex association pattern. This finding contributes new population-based evidence for the development of age-specific targeted drugs.
5.Wang Xingkuan's Experience in Treating Perimenopausal Women with Burning Mouth Syndrome Based on the Theory of"Yin Injury and Internal Dryness"
Maowen WANG ; Ziran ZHOU ; Zhixiang CHEN ; Yaowu CHEN ; Pei XIA ; Mengli JI ; Wen ZHANG ; Xingkuan WANG
Chinese Journal of Information on Traditional Chinese Medicine 2024;31(12):172-175
This article introduced Professor Wang Xingkuan's academic thoughts and clinical experience in diagnosing and treating burning mouth syndrome(BMS)in perimenopausal women based on the theory of"yin injury and internal dryness".Professor Wang advocates the principle of"treating the root cause of the disease and harmonizing multiple organs".Starting from the unique physiological characteristics of perimenopausal women,he believes that the BMS in perimenopausal women should be attributed to the kidneys,liver,heart,and small intestine.The fundamental cause of the disease is the deficiency of kidney essence and the gradual decline of liver blood,and the key to the onset is the dryness of the kidney,liver,heart,and small intestine.In treatment,the overall strategy is to take"yin injury and internal dryness"as the main guideline,focusing on the liver and kidney,with nourishing and replenishing the liver and kidney as the main approach and clearing heat and moistening as auxiliary methods.The basic formula for treating BMS is a combination of Erdong Decoction and Baihe Dihuang Decoction,which has shown significant clinical efficacy.
6.Online mindfulness-based stress reduction improves anxiety and depression status and quality of life in caregivers of patients with severe mental disorders
Deng'ai DUAN ; Haiming WANG ; Liang TONG ; Jingying RUAN ; Qizhu WANG ; Zhixiang CHEN ; Ye RUAN ; Tianhao BAO
Journal of Zhejiang University. Medical sciences 2024;53(1):108-115
Objective:To explore the effects of online mindfulness-based stress reduction(MBSR)on the anxiety and depression status,and quality of life in the caregivers of patients with severe mental disorders.Methods:Ninety-three caregivers for patients with schizophrenia or bipolar disorder,who were hospitalized in Yunnan Provincial Mental Hospital in March 2021,were enrolled and randomly divided into control group(n=47)and MBSR intervention group(n=46).Both groups received basic health education and rehabilitation skill training,while the intervention group received additional online MBSR for 8 weeks.The anxiety and depression status,and the quality of life of the caregivers were evaluated by Self-rating Anxiety Scale(SAS),Self-rating Depression Scale(SDS)and the 36-item Short Form Health Survey(SF-36)before and 8 weeks after intervention,respectively.Results:Thirteen caregivers dropped out of the study,and 80 subjects(40 in each group)were included in the final analysis.At the baseline,there were no significant differences in SAS,SDS and SF-36 scores between two groups(all P>0.05).Compared with the baseline,SAS and SDS scores in the intervention group significantly decreased after 8 weeks of intervention(both P<0.01)and were significantly lower than those in the control group(both P<0.01).There were no significant changes in the control group(all P>0.05).Except the physiological function dimension,the total score and the scores of each dimension of SF-36 in the intervention group were significantly increased after 8-week intervention(all P<0.05),and were significantly higher than those in the control group(all P<0.01).There were no significant changes in the control group before and after intervention(all P>0.05).Conclusion:Online MBSR can reduce the anxiety and depression levels,improve the quality of life in the caregivers of patients with severe mental disorders.
7.T 1 rho mapping for assessment of myocardial fibrosis in hypertrophic cardiomyopathy
Gang YIN ; Zhixiang DONG ; Xinling YANG ; Chen CUI ; Kai YANG ; Xiuyu CHEN ; Yan ZHANG ; Minjie LU ; Shihua ZHAO
Chinese Journal of Radiology 2023;57(10):1087-1093
Objective:To investigate the value of T 1ρ mapping in the assessment of myocardial fibrosis in patients with hypertrophic cardiomyopathy (HCM). Methods:Forty HCM patients and 16 healthy volunteers who underwent CMR examination between December 2021 and May 2022 were prospectively enrolled. T 1ρ mapping, pre-and post-contrast T 1 mapping, and gadolinium contrast-enhanced delayed enhancement (LGE) imaging were performed in HCM patients, while T 1ρ mapping and T 1 mapping were performed in volunteers. HCM patients were further divided into LGE-positive (LGE+) and LGE-negative (LGE-) groups based on the presence or absence of LGE. The T 1ρ and pre-contrast T 1 values of the left ventricular myocardium of HCM patients and volunteers were measured, and the extracellular volume fraction (ECV) of the left ventricular myocardium of HCM patients was measured using pre-and post-contrast T 1 mapping. One-way ANOVA was used to compare the T 1ρ and pre-contrast T 1 values among the LGE+, LGE-, and volunteer groups, and pairwise comparisons were further corrected using the Bonferroni method. Receiver operating characteristic (ROC) analysis was used to evaluate the diagnostic performance of pre-contrast T 1 and T 1ρ values in distinguishing LGE+ and LGE- patients from volunteers. The chi-square test or Fisher′s exact probability test was used for categorical variable comparisons. Pearson correlation coefficient was used to evaluate the correlation between T 1ρ and pre-contrast T 1, and ECV. Results:There were no significant differences in age, gender, and body surface area among the LGE+, LGE-, and healthy control groups ( P>0.05). Compared to the HC group, both the T 1ρ value ( t=5.74, P<0.001) and the pre-contrast T 1 value ( t=3.99, P<0.001) increased in LGE positive group, as well as in the LGE negative group (T 1ρ: t=4.19, P<0.001; T 1: t=2.06, P<0.044). ROC analysis showed that the area under the curve (AUC) of T 1ρ and pre-contrast T 1 in distinguishing LGE+patients from healthy controls were 0.93 (sensitivity 84.0%, specificity 93.8%) and 0.87 (sensitivity 84.0%, specificity 87.5%), respectively. The AUC of T 1ρ and pre-contrast T 1 in distinguishing LGE-patients from healthy controls were 0.84 (sensitivity 86.7%, specificity 68.8%) and 0.68 (sensitivity 60%, specificity 68.8%), respectively. The correlation analysis showed that the T 1ρ value of the left ventricular myocardium was positively correlated with the pre-contrast T 1 value ( r=0.31, P=0.02) and ECV value ( r=0.38, P=0.02). Conclusion:Without the use of contrast agents, T 1ρ mapping shows good performance for myocardial replacement fibrosis and diffuse fibrosis in HCM patients.
8.Effectiveness of transcutaneous lower eyelid blepharoplasty with a skin flap reserving the pretarsal fullness
Jianwu CHEN ; Yuzhi WANG ; Xiaoyu CHENG ; Liming ZHANG ; Qi LI ; Zhixiang CHEN ; Yanhong WU
Chinese Journal of Plastic Surgery 2023;39(10):1088-1093
Objective:To evaluate the effectiveness of transcutaneous lower eyelid blepharoplasty with a skin flap reserving the pretarsal fullness.Methods:From November 2017 to April 2022, a retrospective analysis was performed to assess the reserving of pretarsal fullness after the transcutaneous lower blepharoplasty with a skin flap in the Department of Burn and Plastic Surgery, General Hospital of Southern Theater Command, PLA. A subciliary incision was made below the ciliary margin and a skin flap was elevated at the surface of pretarsal orbicularis. The muscle was partially split at the position of pretarsal crease, leaving the pretarsal orbicularis oculi muscle and the pretarsal crease intact. Preseptal dissection was proceeded down to the level of arcus marginalis, exposing the orbital fat pads. For patient with tear trough deformity or volume deficiency in the medial cheek, retaining ligament laxity and fat repositioning were routinely performed. The muscle wound was closed edge to edge and the excess skin was excised conservatively. Postoperative complications were recorded. Face-Q scale was used for surgical decision and postoperative satisfaction evaluation. The scores range from 0 to 100, with higher scores indicating less regret the operation or greater satisfaction. The preoperative and postoperative digital photographs were used to evaluate the change of pretarsal fullness.Results:256 patients were included, of whom 233 cases were women and 23 cases were men. The age was (43.0±10.2) years. 24 cases had concomitant lateral canthoplasty due to hypotonia of lower eyelid, 22 had concomitant upper blepharoplasty, and 21 cases had brow lift surgery to correct upper eyelid relaxation. All patients had follow-up for (3.7±4.1) months, most patients were satisfied with the operation results. A total of 211 patients maintained a natural pretarsal fullness postoperatively, with the rate of 82.4%. The Face-Q satisfaction score was (75.8±18.6) and the surgical decision score was (80.3±15.4), indicating that most patients did not regret the operation. Postoperative complications included 8 cases of eyelid bags undercorrection, of whom 4 patients underwent secondary resection. 7 patients experienced infraorbital bulge for the uneven placement of the fat pad, 2 of them required revision surgery. Hematoma occurred in 4 cases and was resolved by hematoma clearance. Other complications included 3 cases of ectropion and 2 cases of minimal tear trough correction. Lower eyelid ectropion was corrected in one case.Conclusion:Reserving the pretarsal fullness in transcutaneous lower eyelid blepharoplasty with a skin flap provides excellent aesthetic results and high patient satisfaction. This technique is simple and effective.
9.Effectiveness of transcutaneous lower eyelid blepharoplasty with a skin flap reserving the pretarsal fullness
Jianwu CHEN ; Yuzhi WANG ; Xiaoyu CHENG ; Liming ZHANG ; Qi LI ; Zhixiang CHEN ; Yanhong WU
Chinese Journal of Plastic Surgery 2023;39(10):1088-1093
Objective:To evaluate the effectiveness of transcutaneous lower eyelid blepharoplasty with a skin flap reserving the pretarsal fullness.Methods:From November 2017 to April 2022, a retrospective analysis was performed to assess the reserving of pretarsal fullness after the transcutaneous lower blepharoplasty with a skin flap in the Department of Burn and Plastic Surgery, General Hospital of Southern Theater Command, PLA. A subciliary incision was made below the ciliary margin and a skin flap was elevated at the surface of pretarsal orbicularis. The muscle was partially split at the position of pretarsal crease, leaving the pretarsal orbicularis oculi muscle and the pretarsal crease intact. Preseptal dissection was proceeded down to the level of arcus marginalis, exposing the orbital fat pads. For patient with tear trough deformity or volume deficiency in the medial cheek, retaining ligament laxity and fat repositioning were routinely performed. The muscle wound was closed edge to edge and the excess skin was excised conservatively. Postoperative complications were recorded. Face-Q scale was used for surgical decision and postoperative satisfaction evaluation. The scores range from 0 to 100, with higher scores indicating less regret the operation or greater satisfaction. The preoperative and postoperative digital photographs were used to evaluate the change of pretarsal fullness.Results:256 patients were included, of whom 233 cases were women and 23 cases were men. The age was (43.0±10.2) years. 24 cases had concomitant lateral canthoplasty due to hypotonia of lower eyelid, 22 had concomitant upper blepharoplasty, and 21 cases had brow lift surgery to correct upper eyelid relaxation. All patients had follow-up for (3.7±4.1) months, most patients were satisfied with the operation results. A total of 211 patients maintained a natural pretarsal fullness postoperatively, with the rate of 82.4%. The Face-Q satisfaction score was (75.8±18.6) and the surgical decision score was (80.3±15.4), indicating that most patients did not regret the operation. Postoperative complications included 8 cases of eyelid bags undercorrection, of whom 4 patients underwent secondary resection. 7 patients experienced infraorbital bulge for the uneven placement of the fat pad, 2 of them required revision surgery. Hematoma occurred in 4 cases and was resolved by hematoma clearance. Other complications included 3 cases of ectropion and 2 cases of minimal tear trough correction. Lower eyelid ectropion was corrected in one case.Conclusion:Reserving the pretarsal fullness in transcutaneous lower eyelid blepharoplasty with a skin flap provides excellent aesthetic results and high patient satisfaction. This technique is simple and effective.
10.Clinical and cardiac MR characteristics of heart involvement in patients with Fabry disease
Yangfei XU ; Kai YANG ; Xiaofeng LIU ; Xiuyu CHEN ; Yanyan SONG ; Yihui WANG ; Yucong ZHENG ; Shiqin YU ; Shujuan YANG ; Jiaxin WANG ; Zhixiang DONG ; Minjie LU ; Shihua ZHAO
Chinese Journal of Radiology 2022;56(2):168-174
Objective:To investigate the clinical and cardiac magnetic resonance (CMR) characteristics of heart involvement in patients with Fabry disease (AFD).Methods:From January 2018 to March 2021, eight AFD patients [3 males and 5 females, mean age (50±11) years old, range 26-60 years old] confirmed by genetic testing or pathology in Fuwai Hospital were retrospectively included in this study. At the same time, sixteen patients with hypertrophic cardiomyopathy (HCM) [6 males and 10 females, mean age (46±15) years old] and 16 healthy individuals [6 males and 10 females, mean age (51±11) years old] were included as controls. The clinical baseline data and CMR data of the patients were collected and analyzed. The CMR data were analyzed using the software CVI42, with the corresponding parameters automatically generated. One-way ANOVA or Kruskal-Wallis test was used to compare the differences in the parameters among the three groups. Independent-samples t test, Fisher precise test or Mann-Whitney U test were used for the comparison between each two groups. Results:Statistically significant difference was found in renal insufficiency between the HCM group and the AFD group; No other significant difference was found in other clinical factors and ECG results (all P>0.05). CMR results showed that in the AFD group, there were 5 cases with symmetric or roughly symmetric hypertrophy, and 3 with asymmetric hypertrophy. The late gadolinium enhancement (LGE) showed myocardial enhancement in 5 patients, mainly presenting as multiple intermural enhancement, and partially as local subendocardial enhancement. In the HCM group, fourteen cases suffered mainly asymmetric ventricular septal thickening, with or without thickening of other parts of left ventricular wall; and 2 cases had thickening of middle and distal part of the left ventricle. The LGE showed myocardial enhancement in 14 patients, which manifested as focal or patchy enhancement in hypertrophic myocardium, including focal enhancement in the right ventricular insertion of ventricular septum (more common) and subendocardial enhancement in the middle and far segments of left ventricle. Statistically significant difference was found in the differences between the left atrial anterior posterior diameter, the maximum wall thickness of left ventricular, the left ventricular myocardial mass index (LVMI) and the native T 1 value among the three groups (all P<0.001). However, there was no statistically significant difference in the left atrial anterior posterior diameter and the maximum wall thickness of left ventricular between AFD group and HCM group ( P>0.05). The LVMI in AFD group was higher than that in healthy group and HCM group (all P<0.05). Significant difference was found in the native T 1 value among the three groups, with the native T 1 value of the AFD group [(1 177.4±46.0) ms] was significantly lower than that of the healthy group [(1 244.5±34.3) ms] and the HCM group [(1 278.8±41.6) ms], with ( F=13.10, P<0.001). Conclusions:The clinical characteristics of AFD and HCM are quite similar. When AFD is suspected, CMR imaging should be the first choice for imaging examination. Especially, T 1 mapping imaging can provide important information for the diagnosis of AFD.

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