Objective To examine the significance of susceptible gene detection for hereditary cancer syndrome (HCS) among general population. Methods A total of 2 928 individuals undergoing routine health examinations in Healthcare Center of Zhongshan Hospital, Fudan University, from September 2021 to April 2024 were enrolled retrospectively. Next generation sequencing was employed to identify susceptible genes for HCS. American College of Medical Genetics and Genomics (ACMG) guideline was used to analyze the pathogenicity of variants. Clinical data, imagings, follow-up data were also collected. Results The overall mutation rate of HCS panel was 3.59% (105/2 928), with 0.61% (18/2 928) for MutY DNA glycosylase (MUTYH), 0.27% (8/2 928) for breast cancer susceptibility gene 1/2 (BRCA1/2) and 0.23% (7/2 928) for mismatch repair (MMR) genes. Conclusions Healthy individuals carrying tumor susceptible genes usually lack the relevant clinical phenotypes. Whether comprehensive testing needs to be carried out among healthy people remains to be further explored.

Multiple system atrophy (MSA) is a rare neurodegenerative disease with complex clinical manifestations, presenting substantial challenges in clinical diagnosis and treatment. Its symptoms and the eight extraordinary meridians are potentially correlated; therefore, this article explores the association between MSA symptom clusters and the eight extraordinary meridians based on their circulation and physiological functions, as well as their treatment strategies. The progression from deficiency to damage in the eight extraordinary meridians aligns with the core pathogenesis of MSA, which is characterized by "the continuous accumulation of impacts from the vital qi deficiency leading to eventual damage". Liver and kidney deficiency and the emptiness of the eight extraordinary meridians are required for the onset of MSA; the stagnation of qi deficiency and the gradual damage to the eight extraordinary meridians are the key stages in the prolonged progression of MSA. The disease often begins with the involvement of the yin and yang qiao mai, governor vessel, thoroughfare vessel, and conception vessel before progressing to multiple meridian involvements, ultimately affecting all eight extraordinary meridians simultaneously. The treatment approach emphasizes that "the direct method may be used for joining battle, but indirect method will be needed in order to secure victory" and focuses on "eliminate pathogenic factors and reinforce healthy qi". Distinguishing the extraordinary meridians and focusing on the primary symptoms are pivotal to improving efficacy. Clinical treatment is aimed at the target, and tailored treatment based on careful clinical observation ensures precision in targeting the disease using the eight extraordinary meridians as the framework and core symptoms as the specific focus. Additionally, combining acupuncture, daoyin therapy, and other method may help prolong survival. This article classifies clinical manifestations based on the theory of the eight extraordinary meridians and explores treatment.

Objective To analyze the acupoint selection law in acupuncture treatment for sinusitis using data mining techniques.Methods Relevant literature on acupuncture treatment for sinusitis was retrieved from CNKI,Wanfang Data,VIP and CBM from January 1,2000 to December 20,2024.Descriptive statistics were performed on the frequency of acupoint usage,meridian tropism,and regional distribution.SPSS Modeler 18.0,Cytoscape 3.10.3 and Origin Pro were employed to conduct association rule mining,co-occurrence network analysis,and systematic cluster analysis on the acupoints.Results A total of 69 articles were included,yielding 114 acupoint prescriptions involving 65 distinct acupoints.The most frequently used acupoints were Yingxiang,Yintang and Hegu,etc.;the most commonly used meridians were large intestine meridian,Governor Vessel,gallbladder meridian and bladder meridian.Acupoint selection was predominantly concentrated in the head/neck region,lower limbs and upper limbs.Among the specific acupoint categories,Jiaohui acupoint,Wushu acupoint and Yuan acupoint were used most frequently.The acupoint combinations with the strongest associations were Hegu-Yingxiang,Hegu-Yintang-Yingxiang and Fengchi-Yingxiang.The top 22 high-frequency acupoints could be grouped into 5 clusters.Conclusion Acupuncture treatment for sinusitis can exert the functions to disperse wind and unblock the orifices,drain heat and resolve turbidity,expel pathogens and alleviate pain,tonify deficiency and dissipate cold,as well as harmonize qi and blood.The characteristics of acupoint combination include a primary focus on local points supplemented by distal points,pattern differentiation-based selection,and a propensity for unblocking yang qi.The core acupuncture formula is Yingxiang-Yintang-Hegu-Fengchi.

Objective:To investigate the gender differences in the causal relationship between testosterone-related hormones and type 2 diabetes mellitus(T2DM), and to analyze the mediating role of blood lipids in this relationship.Methods:Using two-sample Mendelian randomization(TSMR) and two-step Mendelian randomization(MR) methods, we explored the causal associations between testosterone-related hormones, T2DM, and blood lipids in different genders. The potential mediating role of blood lipids between testosterone-related hormones and T2DM was quantitatively assessed using multivariate Mendelian Randomization(MVMR).Results:In males, each standard deviation( SD) increase in genetically predicted total testosterone(TT) was associated with lower odds of T2DM( OR=0.90, 95% CI 0.82-0.97, P=0.009) and higher high-density lipoprotein-cholesterol(HDL-C) level( β=0.08 SD, 95% CI 0.03-0.13, P=0.002). In women, each SD rise in genetically predicted bioavailable testosterone(Bio-T) was associated with higher odds of T2DM( OR=1.24, 95% CI 1.10-1.40, P<0.001), lower HDL-C level( β=-0.13 SD, 95% CI -0.21--0.05, P<0.001). Mediation analysis revealed that HDL-C played a mediating role(7.83%) between Bio-T and T2DM in women. However, HDL-C showed no mediating effect between SHBG and TT levels on T2DM, and low-density lipoprotein-cholesterol(LDL-C) showed no mediating effect between TT levels on T2DM in men. Conclusions:Lower levels of TT and SHBG in men, and high levels of Bio-T in women may increase the risk of T2DM. In women, regulating HDL-C levels may offer a potential strategy for the prevention and treatment of T2DM related to Bio-T disorders.

Objective:To analyze the relationship between clinicopathological features and germline mismatch repair (MMR) gene variants in endometrial cancer patients and to evaluate the clinical utility of germline multi-gene panel testing.Methods:This single-center, retrospective case series study included 100 endometrial cancer patients treated in Zhongshan Hospital, Fudan University between July 2022 and February 2024. We collected clinicopathological data and tumor molecular testing results. 61 cancer susceptibility genes were tested using next-generation sequencing, and the associations between the detection rate of germline variants and the clinicopathological characteristics in endometrial cancer patients were explored.Results:Among 100 patients, 28% (28/100) were found to have pathogenic variants in cancer susceptibility genes, of which 20 patients carried germline MMR gene variants and the remaining 8 patients carried variants in other cancer susceptibility genes. Of the 20 patients diagnosed with Lynch syndrome, only 40% (8/20) met the Chinese family history criteria for Lynch syndrome. Among 53 patients with intact MMR protein expression, 1 patient was identified with a germline MMR gene variant. In the 14 Lynch syndrome patients with confirmed microsatellite status, 5/14 of those showed low microsatellite instability or microsatellite stability. Germline multi-gene panel testing in all endometrial cancer patients additionally identified 1 Lynch syndrome patient and 8 patients with non-Lynch hereditary cancers.Conclusion:Current clinical screening criteria may miss some endometrial cancer patients with Lynch syndrome. Compared with traditional screening pattern, germline multi-gene panel testing not only improves the detection rate of Lynch syndrome in endometrial cancer patients but also identifies other hereditary cancer predispositions.

Objective To retrieve,analyze and synthesize evidence on post-transplant diabetes mellitus(PTDM)in lung transplant patients,providing reference for clinical healthcare professionals in preventing and managing PTDM in lung transplant patients.Methods Based on the"6S"evidence model,systematic searches were conducted across guideline websites,professional associations,and Chinese/English databases regarding post-transplant diabetes mellitus(PTDM)in lung transplant patients.The search period spanned from data-base inception to January 2025.Two researchers independently completed literature screening,quality assess-ment,and evidence extraction.Results A total of 14 articles were included,comprising 1 clinical decision,2 guidelines,5 expert consensuses,2 specifications,1 evidence summary,and 3 systematic reviews.Twenty-four pieces of best evidence were synthesized from seven aspects:risk factors,diagnosis,screening,prevention,treatment,glycemic control targets,and health education.Conclusion The best evidence for preventing and managing post-transplant diabetes mellitus in lung transplant patients provides an evidence-based foundation for clinical practice among healthcare professionals.Evidence should be selected and applied according to spe-cific clinical situations and patient needs.

Evidence mapping is a novel method of evidence synthesis that has been increasingly applied in the field of TCM in recent years. This article provided a comprehensive and detailed introduction to the origin, definition, and characteristics of evidence mapping. It systemically reviewed and summarized published studies on evidence mapping in TCM, exploring common issues encountered during the production and reporting of TCM evidence mapping research. Such issues included the failure to highlight the advantages of TCM in the research topic, lack of prior registration of the study, limited scope of searches, unclear inclusion and exclusion criteria, insufficient standardization in literature screening and data extraction, inadequate overall quality assessment, obscure process of evidence synthesis, lack of targeted evidence analysis, and insufficiently standardized reporting of results. Corresponding improvement strategies were proposed to enhance the quality of TCM evidence mapping literature, increase the reliability and applicability of research outcomes, and thereby promote the modernization and internationalizati.

Objective To analyze the acupoint selection law in acupuncture treatment for sinusitis using data mining techniques.Methods Relevant literature on acupuncture treatment for sinusitis was retrieved from CNKI,Wanfang Data,VIP and CBM from January 1,2000 to December 20,2024.Descriptive statistics were performed on the frequency of acupoint usage,meridian tropism,and regional distribution.SPSS Modeler 18.0,Cytoscape 3.10.3 and Origin Pro were employed to conduct association rule mining,co-occurrence network analysis,and systematic cluster analysis on the acupoints.Results A total of 69 articles were included,yielding 114 acupoint prescriptions involving 65 distinct acupoints.The most frequently used acupoints were Yingxiang,Yintang and Hegu,etc.;the most commonly used meridians were large intestine meridian,Governor Vessel,gallbladder meridian and bladder meridian.Acupoint selection was predominantly concentrated in the head/neck region,lower limbs and upper limbs.Among the specific acupoint categories,Jiaohui acupoint,Wushu acupoint and Yuan acupoint were used most frequently.The acupoint combinations with the strongest associations were Hegu-Yingxiang,Hegu-Yintang-Yingxiang and Fengchi-Yingxiang.The top 22 high-frequency acupoints could be grouped into 5 clusters.Conclusion Acupuncture treatment for sinusitis can exert the functions to disperse wind and unblock the orifices,drain heat and resolve turbidity,expel pathogens and alleviate pain,tonify deficiency and dissipate cold,as well as harmonize qi and blood.The characteristics of acupoint combination include a primary focus on local points supplemented by distal points,pattern differentiation-based selection,and a propensity for unblocking yang qi.The core acupuncture formula is Yingxiang-Yintang-Hegu-Fengchi.

Objective:To investigate the gender differences in the causal relationship between testosterone-related hormones and type 2 diabetes mellitus(T2DM), and to analyze the mediating role of blood lipids in this relationship.Methods:Using two-sample Mendelian randomization(TSMR) and two-step Mendelian randomization(MR) methods, we explored the causal associations between testosterone-related hormones, T2DM, and blood lipids in different genders. The potential mediating role of blood lipids between testosterone-related hormones and T2DM was quantitatively assessed using multivariate Mendelian Randomization(MVMR).Results:In males, each standard deviation( SD) increase in genetically predicted total testosterone(TT) was associated with lower odds of T2DM( OR=0.90, 95% CI 0.82-0.97, P=0.009) and higher high-density lipoprotein-cholesterol(HDL-C) level( β=0.08 SD, 95% CI 0.03-0.13, P=0.002). In women, each SD rise in genetically predicted bioavailable testosterone(Bio-T) was associated with higher odds of T2DM( OR=1.24, 95% CI 1.10-1.40, P<0.001), lower HDL-C level( β=-0.13 SD, 95% CI -0.21--0.05, P<0.001). Mediation analysis revealed that HDL-C played a mediating role(7.83%) between Bio-T and T2DM in women. However, HDL-C showed no mediating effect between SHBG and TT levels on T2DM, and low-density lipoprotein-cholesterol(LDL-C) showed no mediating effect between TT levels on T2DM in men. Conclusions:Lower levels of TT and SHBG in men, and high levels of Bio-T in women may increase the risk of T2DM. In women, regulating HDL-C levels may offer a potential strategy for the prevention and treatment of T2DM related to Bio-T disorders.

Objective:To analyze the relationship between clinicopathological features and germline mismatch repair (MMR) gene variants in endometrial cancer patients and to evaluate the clinical utility of germline multi-gene panel testing.Methods:This single-center, retrospective case series study included 100 endometrial cancer patients treated in Zhongshan Hospital, Fudan University between July 2022 and February 2024. We collected clinicopathological data and tumor molecular testing results. 61 cancer susceptibility genes were tested using next-generation sequencing, and the associations between the detection rate of germline variants and the clinicopathological characteristics in endometrial cancer patients were explored.Results:Among 100 patients, 28% (28/100) were found to have pathogenic variants in cancer susceptibility genes, of which 20 patients carried germline MMR gene variants and the remaining 8 patients carried variants in other cancer susceptibility genes. Of the 20 patients diagnosed with Lynch syndrome, only 40% (8/20) met the Chinese family history criteria for Lynch syndrome. Among 53 patients with intact MMR protein expression, 1 patient was identified with a germline MMR gene variant. In the 14 Lynch syndrome patients with confirmed microsatellite status, 5/14 of those showed low microsatellite instability or microsatellite stability. Germline multi-gene panel testing in all endometrial cancer patients additionally identified 1 Lynch syndrome patient and 8 patients with non-Lynch hereditary cancers.Conclusion:Current clinical screening criteria may miss some endometrial cancer patients with Lynch syndrome. Compared with traditional screening pattern, germline multi-gene panel testing not only improves the detection rate of Lynch syndrome in endometrial cancer patients but also identifies other hereditary cancer predispositions.