Objective:To investigate the key genetic mutations during the progressive disease (PD) /leukemic transformation (LT) course in MDS by analyzing the dynamic changes of genetic mutations in patients with myelodysplastic neoplasms (MDS) with or without PD/LT.Methods:This study enrolled 84 patients with sequential MDS from May 2019 to August 2023 at ZhongDa Hospital Southeast University and used the next generation sequencing to detect gene mutations. The dynamic changes of genetic mutations in patients with MDS with or without PD/LT were retrospectively analyzed.Results:①This study analyzed data from 84 patients diagnosed with MDS with a median age of 63 (range: 31-95) years and consisting of 51 males and 33 females. Participants were distributed to the PD cohort ( n=20), LT cohort ( n=13), and non-PD/LT cohort ( n=51). Patients from the PD/LT cohorts demonstrated a higher proportion of bone marrow blasts than the non-PD/LT cohort at the first sequencing (1.6% vs. 0.4%, P=0.013). ②The most frequently mutated genes that were detected at first sequencing were ASXL1 ( n=21, 25.0%), TP53 ( n=17, 20.2%), TET2 ( n=12, 14.3%), DNMT3A ( n=11, 13.1%), and U2AF1 ( n=11, 13.1%). Further, patients from the PD/LT cohorts exhibited a higher median number of mutated genes than the non-PD/LT cohort (2 vs.1, P=0.014) at first sequencing. TET2 (27.3% vs. 5.9%, P=0.010), SETBP1 (15.2% vs.2.0%, P=0.033), and RUNX1 (18.2% vs. 2.0%, P=0.013) mutations were enriched in the PD/LT cohorts than in the non-PD/LT cohort. ③The most frequently detected acquired mutations (Ⅰ mutations) and clonally expanded mutations (Ⅱ mutations) were TP53 ( n=9, 10.7%), TET2 ( n=7, 8.3%), ASXL1 ( n=7, 8.3%), and RAS pathway ( n=7, 8.3%). Furthermore, patients from the PD/LT cohorts showed a higher median number of Ⅰ/Ⅱ genes than the non-PD/LT cohort (2 vs. 0, P<0.001), and Ⅰ/Ⅱ RAS pathway (21.2% vs. 0, P=0.001), TP53 (27.3% vs. 0, P<0.001), and TET2 (18.2% vs. 2.0%, P=0.013) mutations were enriched in PD/LT cohorts than in the non-PD/LT cohorts. ④Most of the TP53 mutations (9/12, 75.0%) in PD/LT cohorts were Ⅰ/Ⅱ mutations, whereas all of the TP53 mutations in non-PD/LT cohort were clone-decrease mutations (Ⅲ mutations) (5/8, 62.5%) or clone-stable mutations (Ⅳ mutations) (3/8, 37.5%). Most of the RAS pathway mutations (7/8,87.5%) in the PD/LT cohorts were Ⅰ/Ⅱ mutations, whereas only one patient in the non-PD/LT cohort demonstrated RAS pathway mutations, which belonged to Ⅳ mutations. Conclusion:Patients from the PD/LT cohorts demonstrated a higher proportion of bone marrow blasts and a higher median number of mutations than the non-PD/LT cohort at first sequencing; TET2, SETBP1, and RUNX1 mutations were enriched in the PD/LT cohorts than in the non-PD/LT cohort at first sequencing. Patients from the PD/LT cohorts exhibited a higher number of Ⅰ/Ⅱ mutations than the non-PD/LT cohort. Further, Ⅰ/Ⅱ TP53, RAS pathway, and TET2 mutations were enriched in the PD/LT cohorts, and Ⅰ/Ⅱ TP53 and RAS pathway mutations may contribute to the PD/LT.

Objective To observe the ultrasonic manifestations of local recurrence(LR)of breast cancer after surgery.Methods Totally 82 female breast cancer patients with local hypoechoic in surgical area who underwent ultrasound follow-up were enrolled and divided into LR group(n=18)and non LR group(n=64)according to the local hypoechoic was LR or not.Clinical data and ultrasonic manifestations of primary lesion before operation and postoperative local hypoechoic were observed and compared between groups.Results Significant differences of surgical resection type,molecular subtype,status of smooth muscle actin,Calponin status,Ki-67 status,clinical staging,the maximum diameter and posterior echo of the primary lesion,as well as of involved tissue layer,location,long axis parallel to the skin or not,edge,internal echo,posterior echo,skin change and Adler blood flow grading of local hypoechoic in resection area were found between groups(all P＜0.05).Conclusion Ultrasonic manifestations of LR of breast cancer after surgery had certain characteristics.

Objective:To investigate the relationship between macrophage activation related factors and clini-cal symptoms of schizophrenia(SCZ).Methods:Outpatient or inpatient SCZ patients(n=166)and normal con-trols(n=71)meeting the diagnostic criteria of DSM 4th edition were selected as subjects.The psychopathological symptoms were assessed by the Positive and Negative Syndrome Scale(PANSS),and the concentrations of α-Na-Galases,MAF and IL-18 were determined by enzyme-linked immunosorbent assay(ELISA).The correlation be-tween biological indicators and clinical symptoms was analyzed and the mediation effect was tested.Results:The concentrations of α-NaGalases(P＜0.001)and MAF(P＜0.01)in SCZ group were lower than those in normal control group.In SCZ group,IL-18 was negatively correlated with α-NaGalases concentration(r=-0.24,P＜0.01).α-NaGalases was positively correlated with MAF concentration(r=0.67,P＜0.001),and the total score of PANSS positive symptom scale was positively correlated with IL-18(r=0.21,P＜0.05)and MAF concentration(r=0.22,P＜0.01).The mediating effect of α-NaGalases and MAF was statistically significant,and the relative mediating effect accounted for 25.47％.Conclusion:The increase of IL-18 level may indicate the occurrence of positive symptoms of schizophrenia,and α-NaGalases and MAF may negatively regulate the inflammatory damage effect of IL-18 on SCZ,thereby reducing the positive symptoms.

Objective A scoping review of studies on symptom clusters in patients with chronic heart failure(CHF)was conducted to provide reference for the treatment and management of CHF.Methods According to reporting framework of scoping review put forward by Arksey,the related literatures of Cochrane Library,CINAHL,Web of Science,PubMed,Embase,Wanfang Data Knowledge Service Platform,SinoMed,CNKI and VIP from January 2014 to July 2024 were searched,and the contents of the literatures were screened,extracted and analyzed.Results Ten articles were included,involving many symptom clusters,mainly including mood,ischemia,congestion,digestive tract and fatigue.Symptom group assessment tool mainly adopted Chinese version of Memorial symptom assessment scale-heart failure.Conclusion There are various types of symptom clusters in CHF patients,and they show dynamic changes in each disease stage.It is still necessary to strengthen the research on the evaluation tools,occurrence principles and standardized naming of symptom clusters.Medical staff can give first-class care to the main symptom clusters in each period,formulate personalized nursing intervention measures in advance,and improve the efficiency of symptom management in clinical nursing.

ObjectiveTo elucidate the critical role of rehabilitation medical records (including electronic records) in rehabilitation medicine's clinical practice and management, comprehensively analyzed the structure, core content and data standards of rehabilitation medical records, to develop a standardized medical record data architecture and core dataset suitable for rehabilitation medicine and to explore the application of rehabilitation data in performance evaluation and payment. MethodsBased on the regulatory documents Basic Specifications for Medical Record Writing and Basic Specifications for Electronic Medical Records (Trial) issued by National Health Commission of China, and referencing the World Health Organization (WHO) Family of International Classifications (WHO-FICs) classifications, International Classification of Diseases (ICD-10/ICD-11), International Classification of Functioning, Disability and Health (ICF), and International Classification of Health Interventions (ICHI Beta-3), this study constructed the data architecture, core content and data standards for rehabilitation medical records. Furthermore, it explored the application of rehabilitation record summary sheets (home page) data in rehabilitation medical statistics and payment methods, including Diagnosis-related Groups (DRG), Diagnosis-Intervention Packet (DIP) and Case Mix Index. ResultsThis study proposed a systematic standard framework for rehabilitation medical records, covering key components such as patient demographics, rehabilitation diagnosis, functional assessment, rehabilitation treatment prescriptions, progress evaluations and discharge summaries. The research analyzed the systematic application methods and data standards of ICD-10/ICD-11, ICF and ICHI Beta-3 in the fields of medical record terminology, coding and assessment. Constructing a standardized data structure and data standards for rehabilitation medical records can significantly improve the quality of data reporting based on the medical record summary sheet, thereby enhancing the quality control of rehabilitation services, effectively supporting the optimization of rehabilitation medical insurance payment mechanisms, and contributing to the establishment of rehabilitation medical performance evaluation and payment based on DRG and DIP. ConclusionStructured rehabilitation records and data standardization are crucial tools for quality control in rehabilitation. Systematically applying the three reference classifications of the WHO-FICs, and aligning with national medical record and electronic health record specifications, facilitate the development of a standardized rehabilitation record architecture and core dataset. Standardizing rehabilitation care pathways based on the ICF methodology, and developing ICF- and ICD-11-based rehabilitation assessment tools, auxiliary diagnostic and therapeutic systems, and supporting terminology and coding systems, can effectively enhance the quality of rehabilitation records and enable interoperability and sharing of rehabilitation data with other medical data, ultimately improving the quality and safety of rehabilitation services.

Objective:To investigate the relationship between macrophage activation related factors and clini-cal symptoms of schizophrenia(SCZ).Methods:Outpatient or inpatient SCZ patients(n=166)and normal con-trols(n=71)meeting the diagnostic criteria of DSM 4th edition were selected as subjects.The psychopathological symptoms were assessed by the Positive and Negative Syndrome Scale(PANSS),and the concentrations of α-Na-Galases,MAF and IL-18 were determined by enzyme-linked immunosorbent assay(ELISA).The correlation be-tween biological indicators and clinical symptoms was analyzed and the mediation effect was tested.Results:The concentrations of α-NaGalases(P＜0.001)and MAF(P＜0.01)in SCZ group were lower than those in normal control group.In SCZ group,IL-18 was negatively correlated with α-NaGalases concentration(r=-0.24,P＜0.01).α-NaGalases was positively correlated with MAF concentration(r=0.67,P＜0.001),and the total score of PANSS positive symptom scale was positively correlated with IL-18(r=0.21,P＜0.05)and MAF concentration(r=0.22,P＜0.01).The mediating effect of α-NaGalases and MAF was statistically significant,and the relative mediating effect accounted for 25.47％.Conclusion:The increase of IL-18 level may indicate the occurrence of positive symptoms of schizophrenia,and α-NaGalases and MAF may negatively regulate the inflammatory damage effect of IL-18 on SCZ,thereby reducing the positive symptoms.

Objective:To explore inhibitory effect of Tianzhi granule on neuroinflammation in vascular dementia(VD)rats.Methods:Sixty rats were randomly divided into Sham group,VD group,TZG-L group and TZG-H group,with 15 rats in each group.Bilateral common carotid artery occlusion was used to construct VD rats model,Sham group was not ligated.Rats in TZG-L group and TZG-H group were gavaged with Tianzhi granule 5 g/kg,20 g/kg every day,while rats in Sham group and VD group were gavaged with same amount of normal saline for 8 weeks.Y-maze test was used to detect cognitive ability of rats;Nissl staining and FJC staining were used to assess neuronal damage;TUNEL staining was used to detect neuronal apoptosis;immunofluorescence staining and Western blot were used to detect Bcl-2,Bax,Caspase-3,NLRP3,ASC,Caspase-1,IL-1β,IL-18,TNF-α,Iba-1,GFAP,MPO,Nrf2,HO-1 protein levels in temporal cortex tissue.PC12 cells was divided into Control group,Glutamate group,TZG-L group and TZG-H group.Glutamate(20 μmol/L)was used to construct neuron injury model.TZG-L group and TZG-H group were added with Tianzhi granule 1 mg/ml,4 mg/ml.Neurons in each group were incubated for 48 h.CCK8 method and TUNEL staining were used to detect activity and apoptosis of neurons;immunofluorescence staining and Western blot were used to detect Bcl-2,Bax,Caspase-3,Nrf2,HO-1 protein levels in cells.Results:Compared with Sham group,cognitive ability of rats in VD group were decreased,TUNEL positive neurons ratio was increased,Bcl-2 level was decreased,Bax,Caspase-3,NLRP3,ASC,Caspase-1,IL-1β,IL-18,TNF-α,Iba-1,GFAP,MPO,Nrf2,HO-1 levels were increased(all P<0.05).Compared with VD group,cognitive ability of rats in TZG-L group and TZG-H group were increased,TUNEL positive neurons ratio was decreased,Bcl-2,Nrf2,HO-1 levels were increased,Bax,Caspase-3,NLRP3,ASC,Caspase-1,IL-1β,IL-18,TNF-α,Iba-1,GFAP,MPO levels were decreased(all P<0.05).Morphology of neurons in control group were normal;compared with control group,neurons in Glutamate group were swollen,activity of neurons was decreased,apoptosis rate was increased,Bcl-2 level was decreased,Bax,Caspase-3,Nrf2,HO-1 levels were increased(all P<0.05);compared with Glutamate group,cell damage in TZG-L group and TZG-H group were reduced,activity of neurons was increased and apoptosis rate was decreased,Bcl-2,Nrf2,HO-1 levels were increased,Bax,Caspase-3 levels were decreased(all P<0.05).Conclusion:Tianzhi granule can inhibit neuronal apoptosis and expression of NLRP3 inflammasome in VD rats,inhibit activa-tion of microglia/astrocytes and neutrophil infiltration,improve neuroinflammation of VD,which may play a role by activating Nrf2/HO-1 signaling pathway in neurons.

Objective To observe the ultrasonic manifestations of local recurrence(LR)of breast cancer after surgery.Methods Totally 82 female breast cancer patients with local hypoechoic in surgical area who underwent ultrasound follow-up were enrolled and divided into LR group(n=18)and non LR group(n=64)according to the local hypoechoic was LR or not.Clinical data and ultrasonic manifestations of primary lesion before operation and postoperative local hypoechoic were observed and compared between groups.Results Significant differences of surgical resection type,molecular subtype,status of smooth muscle actin,Calponin status,Ki-67 status,clinical staging,the maximum diameter and posterior echo of the primary lesion,as well as of involved tissue layer,location,long axis parallel to the skin or not,edge,internal echo,posterior echo,skin change and Adler blood flow grading of local hypoechoic in resection area were found between groups(all P＜0.05).Conclusion Ultrasonic manifestations of LR of breast cancer after surgery had certain characteristics.

Objective A scoping review of studies on symptom clusters in patients with chronic heart failure(CHF)was conducted to provide reference for the treatment and management of CHF.Methods According to reporting framework of scoping review put forward by Arksey,the related literatures of Cochrane Library,CINAHL,Web of Science,PubMed,Embase,Wanfang Data Knowledge Service Platform,SinoMed,CNKI and VIP from January 2014 to July 2024 were searched,and the contents of the literatures were screened,extracted and analyzed.Results Ten articles were included,involving many symptom clusters,mainly including mood,ischemia,congestion,digestive tract and fatigue.Symptom group assessment tool mainly adopted Chinese version of Memorial symptom assessment scale-heart failure.Conclusion There are various types of symptom clusters in CHF patients,and they show dynamic changes in each disease stage.It is still necessary to strengthen the research on the evaluation tools,occurrence principles and standardized naming of symptom clusters.Medical staff can give first-class care to the main symptom clusters in each period,formulate personalized nursing intervention measures in advance,and improve the efficiency of symptom management in clinical nursing.

Objective:This study aims to develop a questionnaire for transsexualism screening and validate its reliability and validity, to provide a culturally adapted screening tool for Chinese clinicians.Methods:Referencing internationally validated instruments related to transsexualism, items closely aligned with the diagnostic criteria of the International Classification of Diseases, 10th Revision (ICD-10) for transsexualism were extracted. Items reflecting Chinese family cultural characteristics were integrated. The overall structure of the questionnaire was refined through expert consultations. A total of 111 patients diagnosed with transsexualism according to ICD-10 diagnostic criteria (78 male-to-female (MtF), 33 female-to-male (FtM)) were recruited from the outpatient clinic of Shanghai Mental Health Center between June 2021 and April 2024. Additionally, 232 cisgender participants, whose self-reported gender identity aligned with their birth sex, were recruited via the Wenjuanxing platform from June 14 to 22, 2022, comprising 64 heterosexual males, 16 non-heterosexual males, 120 heterosexual females, and 32 non-heterosexual females. Both the transsexual and cisgender groups completed the screening questionnaire. The internal consistency reliability was assessed using Cronbach′s α coefficient, and the corrected item-total correlation (CITC) was employed to measure the relationship between individual items and the total score. Structural validity was verified through structural equation modeling (SEM) using AMOS software. The receiver operating characteristic (ROC) curve analysis was conducted to determine the optimal screening cutoff value, with the area under the curve (AUC) used to evaluate diagnostic accuracy. Effect sizes (Cohen's d) were calculated to compare the average scores of the questionnaire across groups. Results:The Transsexualism Screening Questionnaire consists of 15 items including 4 reverse-scored questions, rated on a 5-point Likert scale. The Cronbach′s α coefficient was 0.953 and the CITC for all items exceeded the recommended threshold of 0.3. After rotation based on eigenvalues>1, one principal component explained 61.67% of the total variance. Confirmatory factor analysis indicated acceptable model fit (χ2/ df = 3.887, standardized root mean square residual (SRMR) = 0.064, root mean square error of approximation (RMSEA)=0.092, comparative fit index (CFI)=0.952, normed fit index (NFI)=0.936, Tucker-Lewis index (TLI)=0.943, incremental fit index (IFI)=0.952). Factor loadings for each item ranged from 0.435 to 0.914. ROC curve analysis revealed that the optimal cutoff values were a mean score of 2.83 and a total score of 42.5, achieving 100% sensitivity and 98.7% specificity, with a Youden index of 0.987. Effect size comparisons showed a Cohen′s d of 6.112 between MtF individuals and cisgender heterosexual males, and a Cohen′s d of 9.287 between FtM individuals and cisgender heterosexual females. Conclusion:The Transsexualism Screening Questionnaire exhibits acceptable reliability, validity, sensitivity, and specificity, and is suitable for screening transsexualism in the Chinese population.