1.Chinese Expert Consensus on Primary Brain Calcification(2026)
Miao ZHAO ; Wei LUO ; Zhiying WU ; Wanjin CHEN
JOURNAL OF RARE DISEASES 2026;5(2):223-230
Primary brain calcification(PBC) is a hereditary neurodegenerative disorder with symmetrical calcification in the bilateral basal ganglia and other brain regions as its core imaging feature, and presents diverse heterogeneous clinical manifestations such as movement disorders, cognitive impairment, and psychiatric disturbances. The identification of multiple causative genes has not only facilitated the exploration of PBC pathogenesis but also continuously expanded its phenotypic spectrum. The diagnosis, evaluation, and management of this disease are experiencing pivotal shifts, accompanied by new challenges. In 2025, the first international expert consensus on PBC was published, laying a foundation for the standardized diagnosis and treatment of PBC worldwide. Based on China′s clinical practice and research status, and referring to the international consensus, domestic experts in related fields conducted multiple rounds of discussions, supplemented and revised the contents covering clinical manifestations, auxiliary examinations, diagnostic criteria, differential diagnosis, molecular classification and characteristics, genetic testing and counseling, disease management and treatment of PBC, and finally developed this consensus. This consensus aims to provide guidance for the standardized diagnosis, treatment, and research of PBC in China, help improve the quality of diagnosis and treatment, and drive the steady advancement of relevant research in this field.
2.Analysis of endometrial microbiota characteristics in patients with varying degrees of intrauterine adhesions
Yiyang LUO ; Zhoulin ZHANG ; Yu XIAO ; Qiaoyun ZHOU ; Wenjun JIANG ; Wanfeng SONG ; Tianyu MIAO ; Xin AN ; Xiaowu HUANG
Chinese Journal of Reproduction and Contraception 2025;45(9):880-885
Objective:To investigate the characteristics of the endometrial microbiota in patients with varying degrees of intrauterine adhesion (IUA).Methods:This single-center cross-sectional observational study enrolled 115 patients with IUA who were treated at the Hysteroscopic Center of Fuxing Hospital, Capital Medical University, from May 2022 to October 2023. After quality control and data preprocessing, 81 samples met the inclusion criteria for analysis. Patients were grouped according to an established IUA scoring and grading system into mild IUA ( n=38) and moderate-to-severe IUA ( n=43). Endometrial tissue was collected under sterile conditions. Bacterial genomic DNA was extracted, the 16S rRNA V3-V4 region was amplified, and sequencing was performed on an Illumina platform. Differences in endometrial microbiota diversity and composition were compared between the two groups. Results:Patients with varying degrees of IUA exhibited comparable species richness, evenness and diversity of endometrial microbiota. At the phylum level, the endometrial microbiota across all subjects was predominantly composed of Proteobacteria, Firmicutes, Cyanobacteriota, Bacteroidota, and Actinobacteriota, with Proteobacteria (32.29%) and Firmicutes (23.82%) showing the highest mean relative abundances. At the genus level, Ralstonia (16.67%), Lactobacillus (13.45%), and Streptococcus (7.07%) were the most abundant genera. Group comparisons showed that the abundance of Ralstonia was higher in the mild IUA group, whereas Lactobacillus, Vibrio and Pseudoalteromonas were more abundant in the moderate-to-severe IUA group; however, these differences did not reach statistical significance (all P>0.05). LEfSe analysis further indicated that Lactobacillus, Vibrio, Pseudoalteromonas, Aeromonas, Ureaplasma and Acetobacterium were relatively enriched in the moderate-to-severe IUA group, while Geobacillus, Stomatobaculum and Fusicatenibacter were more abundant in the mild IUA group. Conclusion:The composition of the endometrial microbiota differs among patients with varying IUA severity. IUA progression may be associated with alterations in the endometrial microbiota; however, causal relationships and underlying mechanisms require further investigation.
3.Establishment of a prognostic model for HER2 low expression breast cancer with lung metastasis
Zirui TAN ; Jiaxian MIAO ; Zhenyu MENG ; Ang LI ; Yuqing LUO ; Huirui ZHANG ; Yan DING ; Yueping LIU
Chinese Journal of Clinical and Experimental Pathology 2025;41(11):1427-1435
Purpose This study aimed to evaluate the consistency of human epidermal growth factor receptor 2(HER2)status between primary breast cancer lesions and lung metastatic lesions and to establish a prognostic model for predicting the survival rate of HER2 low expression(HER2-low)breast cancer patients with lung metastasis.Methods Clinicopathological data from a cohort of 252 patients with breast cancer and lung metastasis were retrospec-tively analyzed.Results 50.00%of the patients had HER2-low expression in metastatic lesions,and HER2-low ex-pression was the most prevalent subgroup in both primary and metastatic lesions.A discordance in HER2 status be-tween primary and metastatic sites was observed in 28.07%of cases.The most frequent shift was from HER2-zero in the primary tumor to HER2-low expression in the metastasis(12.28%of all cases).Estrogen receptor(ER)status,menopausal status,and histological type were identified as independent prognostic factors for overall survival(OS)by univariate and multivariate Cox regression analyses.A prognostic model incorporating these factors was constructed to predict 3-year and 5-year survival.The model demonstrated area under the curve(AUC)values of 0.765 and 0.780 for 3-year and 5-year OS in the training cohort,and 0.667 and 0.706 in the validation cohort,respectively.Conclu-sion HER2-low expression is the most common subtype among breast cancer patients with lung metastasis.The ob-served shift from HER2-zero in primary lesions to HER2-low in metastases underscores the clinical necessity of re-biop-sy at metastatic sites.The developed prognostic model effectively predicts OS in this patient population.
4.Multi-dimensional embedded mechanisms in the synergistic development of county health insurance and healthcare services under the"strengthening primary care"strategy:A case study of Qianjiang district,Chongqing
Lin-bin LUO ; Rei-bo HE ; Hao-miao LI ; Liang ZHANG
Chinese Journal of Health Policy 2025;18(7):1-8
This study draws on embedding theory and incentive mechanism theory to construct a multi-dimensional framework for analyzing the integration of county-level health insurance into primary healthcare.Using Qianjiang District,Chongqing,as a case study,it analyses how horizontally bundled funding and service transformation embed insurance into local health governance.The study finds that health insurance is embedded into primary governance through a systemic process driven by values,shaped by social structures,and supported by institutions,involving the reconfiguration of resources,relationships,and interests.Establishing primary care groups as budget units improves alignment between payment and service needs;linking budget limits,surplus incentives,and performance feedback strengthens provider motivation;and coordinated inter-agency mechanisms facilitate integration of fund management and service delivery.
5.The expression and clinical value of ferritinophagy-related gene ELAVL1 in multiple myeloma
Rui ZHANG ; Bingjie WAN ; Xiaomin REN ; Gustave MUNYURANGABO ; Xiao YU ; Jiyu MIAO ; Peihua ZHANG ; Hongwei LIU ; Dan YANG ; Lin LI ; Qiao LI ; Siyu LUO ; Aili HE ; Guangyao KONG ; Yachun JIA
Journal of Xi'an Jiaotong University(Medical Sciences) 2025;46(3):504-510
Objective To investigate the expression of ferritinophagy-related gene ELAV-like RNA binding protein 1(ELAVL1)in multiple myeloma(MM)and elucidate its diagnostic and prognostic value for MM.Methods First,we analyzed ELAVL1 expression level in healthy controls and MM patients using data from the GEO and TCGA databases.Subsequently,bone marrow specimens were collected from 28 newly diagnosed MM patients and 20 healthy controls,and qRT-PCR was employed to validate ELAVL1 expression.The diagnostic and prognostic potential of ELAVL1 was assessed using ROC curve analysis and Kaplan-Meier survival curves.Additionally,univariate and multivariate COX regression analyses were performed to identify independent risk factors for MM prognosis.Finally,KEGG and GO enrichment analyses were performed using the DAVID online platform.Results The level of ELAVL1 expression was significantly higher in newly diagnosed MM patients and refractory/relapsed MM patients than in the healthy controls(P<0.001).Moreover,ELAVL1 expression was positively correlated with the International Staging System(ISS)stage of MM(P<0.01).Furthermore,qRT-PCR validation confirmed that ELAVL1 expression was elevated in the 28 newly diagnosed MM patients compared to the 20 healthy controls(P<0.001).ROC curve analysis demonstrated that ELAVL1 could effectively differentiate between newly diagnosed MM patients,healthy controls,and MGUS patients(P<0.001 and P=0.000 2,respectively).Survival analysis revealed that high ELAVL1 expression was associated with shorter progression-free survival(P=0.0141)and overall survival(P=0.008 0).Univariate and multivariate COX regression analyses identified high ELAVL1 expression as an independent risk factor for poor MM prognosis(P=0.005 0).KEGG analysis suggested that ELAVL1 might be involved in the Hippo and MAPK signaling pathways.Conclusion High ELAVL1 expression in MM may serve as a biomarker for diagnosis and poor prognosis.ELAVL1 may promote MM initiation and progression via the Hippo and MAPK signaling pathways.
6.Impact of the number of cesarean deliveries on adverse pregnancy outcomes of cesarean section in a single-center cohort study
Miao HU ; Lin LIN ; Lili DU ; Zhenping YAN ; Shijun LUO ; Wen SUN ; Shan LU ; Yutian HE ; Fang HE ; Dunjin CHEN
Chinese Journal of Obstetrics and Gynecology 2025;60(6):430-438
Objective:To investigate the impact of the number of cesarean deliveries on adverse maternal and neonatal outcomes.Methods:A retrospective analysis was conducted on 11 904 singleton pregnant women who underwent cesarean delivery at the Third Affiliated Hospital of Guangzhou Medical University from January 1st, 2019 to December 31st, 2023. The women were grouped according to the number of cesarean deliveries: those undergoing their first cesarean delivery (1CD group, 7 231 cases), those undergoing their second cesarean delivery (2CD group, 3 749 cases), those undergoing their third cesarean delivery (3CD group, 841 cases), and those undergoing their fourth or more cesarean deliveries (4CD group, 83 cases). Differences in clinical characteristics, related surgical procedures, and adverse maternal and neonatal outcomes among the groups were compared. Binary logistic regression analysis was used to assess the impact of the number of cesarean deliveries on related surgical procedures and adverse maternal and neonatal outcomes.Results:(1) During the 5-year period, the total number of women undergoing cesarean delivery in our hospital showed a slight downward trend, while the proportion of women undergoing three or more cesarean deliveries increased. (2) Compared with women undergoing their first cesarean delivery, women in each repeat cesarean delivery group were older, had higher proportions of advanced maternal age and pre-pregnancy body mass index, and had more pregnancies, deliveries, and induced abortions; the incidence of placenta previa, placental implantation, antepartum hemorrhage, gestational hyperglycemia, and failed trial of labor requiring conversion to surgery was higher, while the incidence of premature rupture of membranes was lower; the proportions of ureteral stent placement, adhesiolysis of the pelvic and abdominal cavities, uterine rupture, uterine reconstruction, uterine artery ligation, hysterectomy, postpartum hemorrhage, and postoperative intestinal obstruction were higher, and the amount of postpartum hemorrhage was greater; the gestational age at delivery of neonates was earlier, but the rates of preterm birth at 28-31 +6 and 32-33 +6 weeks of gestation were lower; the differences were statistically significant ( P<0.05) for all comparisons. (3) The number of cesarean deliveries was not an independent risk factor for the dose-dependent occurrence of placenta previa (a OR=0.99, 95% CI: 0.98-1.01; P=0.261). In women without placenta previa, the number of cesarean deliveries was not a risk factor for placental implantation (a OR=1.12, 95% CI: 0.90-1.39; P=0.320). However, in women with placenta previa, the number of cesarean deliveries was a risk factor for placental implantation (a OR=4.01, 95% CI: 3.08-5.22; P<0.001). In the overall population, the number of cesarean deliveries was a risk factor for ureteral stent placement, adhesiolysis of the pelvic and abdominal cavities, bladder rupture repair, uterine rupture, uterine reconstruction, uterine artery ligation, hysterectomy, postpartum hemorrhage, and preterm birth (all P<0.05). However, the number of cesarean deliveries was not a risk factor for postoperative intestinal obstruction, admission to the intensive care unit, neonatal asphyxia, admission to the neonatal intensive care unit, or neonatal death (all P<0.05). Conclusions:The number of cesarean deliveries could lead to adverse maternal and neonatal outcomes, but the relationship is not simply dose-dependent. It is speculated that the occurrence of severe adverse maternal and neonatal outcomes is more closely related to maternal complications and comorbidities, as well as whether multidisciplinary comprehensive management was received.
7.Analysis of the incidence and age characteristics of colorectal cancer in cancer registration areas of Jiangsu Province from 2009 to 2019
Jin ZHOU ; Weigang MIAO ; Jinyi ZHOU ; Ran TAO ; Pengfei CAI ; Pengfei LUO ; Renqiang HAN
Chinese Journal of Preventive Medicine 2025;59(7):1054-1062
Objective:To analyze the trend of colorectal cancer incidence and age changes in cancer registration areas of Jiangsu Province from 2009 to 2019.Methods:Based on the continuous and complete data of 16 cancer registries with qualified quality control in Jiangsu Province from 2009 to 2019, the crude incidence rate, age-standardized incidence rate by Segi World Standard Population (ASIRW), age-specific incidence rate, mean age at onset, standardized mean age at onset, standardized age-specific incidence proportion, and incidence proportion of the population over 60 years old of colorectal cancer were calculated. Joinpoint software was used to calculate the average annual percentage change (AAPC) of crude incidence rate, ASIRW, age-specific incidence rate, and incidence proportion of the population over 60 years, respectively. Birth cohort models were constructed to analyze the incidence of colorectal cancer and its trends in the population born from 1929 to 2019. Linear regression models were used to analyze the correlation between mean age at onset, standardized mean age at onset and the year of onset.Results:From 2009 to 2019, a total of 48 036 new cases of colorectal cancer were collected from 16 cancer registries in Jiangsu Province, including 27 508 males and 20 528 females. The crude incidence rate and ASIRW of colorectal cancer in Jiangsu Province increased from 19.00/100 000 and 12.32/100 000 in 2009 to 33.49/100 000 and 16.75/100 000 in 2019, respectively, showing a significant upward trend (CR: AAPC=5.99%, ASIRW: AAPC=3.54%, P<0.001). The increase of ASIRW was greater in males than that observed in females (males: AAPC=4.31%, females: AAPC=2.34%, P<0.001), and greater in rural areas than in urban areas (rural areas: AAPC=4.03%, urban areas: AAPC=3.13%, P<0.001). The incidence of people over 50 years old increased significantly by year, with the 60~69 age group exhibiting a more rapid increase ( AAPC=4.97%, P<0.05). In the birth cohort, the incidence increased rapidly in the population over 50 years with the passage of birth year, with AAPCs ranging from 1.76% to 7.05% ( P<0.05). From 2009 to 2019, the standardized mean age at onset of colorectal cancer increased by 0.10 years annually. The proportion of standardized age-specific incidence exhibited a trend of increase in older age groups, and the incidence proportion of the population over 60 years old showed a significant yearly increase ( AAPC=0.86%, P<0.001). Conclusion:From 2009 to 2019, the incidence, mean age at onset and the incidence proportion of the population over 60 years old of colorectal cancer in Jiangsu Province could exhibit a rapid upward trend. The increase is particularly pronounced in males and rural areas. Additionally, the age-specific incidence distribution reveals a trend of increase in older age groups. Therefore, targeted adjustments and comprehensive prevention measures should be strengthened.
8.Effect of human milk on serum bilirubin and intestinal microbiota in neonatal jaundice rats
Qian PENG ; Heng ZHANG ; Shicheng JIANG ; Keyong LUO ; Miao DUAN
Chinese Journal of Comparative Medicine 2025;35(10):39-47
Objective To investigate the effects of human milk on serum bilirubin levels and gut microbiota in neonatal rats with hyperbilirubinemia.Methods A total of 24 7-day-old specific-pathogen-free Sprague-Dawley rats were injected with bilirubin or normal saline,respectively,and human milk or formula milk was administered 24 hours later for intervention.The rats were divided randomly into four groups:human milk-normal saline group(HN),human milk-bilirubin group(HB),formula milk-normal saline group(FN),and formula milk-bilirubin group(FB).Samples were taken 72 hours later,and serum bilirubin values were detected by enzyme-linked immunosorbent assay.The intestinal microbiota were analyzed using 16S rDNA high-throughput sequencing.Results There was no significant difference in bilirubin values among the groups.Pseudomonas was negatively correlated with indirect bilirubin value(P<0.05).The composition of the intestinal microbiota differed significantly between human milk and formula milk after gastric administration,with Firmicutes(P<0.01),Enterococci(P<0.05),being the main microbiota in the HN and HB groups,and Proteobacteria(P<0.001),Escherichia Shigella(P<0.01)and Acinetobacter(P<0.01)being the main in the FN and FB groups.Conclusions Pseudomonas may be negatively associated with bilirubin,and the structure of the intestinal microbiota may differ in relation to human milk and formula feeding.
9.Analysis of endometrial microbiota characteristics in patients with varying degrees of intrauterine adhesions
Yiyang LUO ; Zhoulin ZHANG ; Yu XIAO ; Qiaoyun ZHOU ; Wenjun JIANG ; Wanfeng SONG ; Tianyu MIAO ; Xin AN ; Xiaowu HUANG
Chinese Journal of Reproduction and Contraception 2025;45(9):880-885
Objective:To investigate the characteristics of the endometrial microbiota in patients with varying degrees of intrauterine adhesion (IUA).Methods:This single-center cross-sectional observational study enrolled 115 patients with IUA who were treated at the Hysteroscopic Center of Fuxing Hospital, Capital Medical University, from May 2022 to October 2023. After quality control and data preprocessing, 81 samples met the inclusion criteria for analysis. Patients were grouped according to an established IUA scoring and grading system into mild IUA ( n=38) and moderate-to-severe IUA ( n=43). Endometrial tissue was collected under sterile conditions. Bacterial genomic DNA was extracted, the 16S rRNA V3-V4 region was amplified, and sequencing was performed on an Illumina platform. Differences in endometrial microbiota diversity and composition were compared between the two groups. Results:Patients with varying degrees of IUA exhibited comparable species richness, evenness and diversity of endometrial microbiota. At the phylum level, the endometrial microbiota across all subjects was predominantly composed of Proteobacteria, Firmicutes, Cyanobacteriota, Bacteroidota, and Actinobacteriota, with Proteobacteria (32.29%) and Firmicutes (23.82%) showing the highest mean relative abundances. At the genus level, Ralstonia (16.67%), Lactobacillus (13.45%), and Streptococcus (7.07%) were the most abundant genera. Group comparisons showed that the abundance of Ralstonia was higher in the mild IUA group, whereas Lactobacillus, Vibrio and Pseudoalteromonas were more abundant in the moderate-to-severe IUA group; however, these differences did not reach statistical significance (all P>0.05). LEfSe analysis further indicated that Lactobacillus, Vibrio, Pseudoalteromonas, Aeromonas, Ureaplasma and Acetobacterium were relatively enriched in the moderate-to-severe IUA group, while Geobacillus, Stomatobaculum and Fusicatenibacter were more abundant in the mild IUA group. Conclusion:The composition of the endometrial microbiota differs among patients with varying IUA severity. IUA progression may be associated with alterations in the endometrial microbiota; however, causal relationships and underlying mechanisms require further investigation.
10.Study on the spillover effects of DRG payment reform:Evidence from the level and structure of medical expenses among non-local inpatients
Xue LUO ; Qiang YAO ; Miao ZHANG ; Hai-ni JIANG ; Xiao-dan ZHANG ; Yi PEI
Chinese Journal of Health Policy 2025;18(11):48-56
Objective:This study aims to investigate the spillover effects of the Diagnosis-Related Groups payment reform on medical expenditures.Methods:Based on the medical record data of inpatients in a tertiary Grade A hospital in Wuhan,Hubei Province,the Difference-in-Differences method was applied to estimate the impact of the DRG reform on medical expenditures for non-local patients.Results:After the implementation of DRG payment,the total medical expenses(β=-0.13),out-of-pocket expenses(β=-0.22),drug expenses(β=-0.25),consumable expenses(β=-0.26)decreased significantly.Meanwhile,the reduction ranges of the level and proportion of out-of-pocket expenses for non-local inpatients were significantly larger than those for local inpatients.However,the reduction range of the proportion of drug expenses for non-local inpatients was significantly smaller than that for local inpatients.The gaps between the two groups in terms of the level of out-of-pocket expenses and the proportion of drug expenses gradually narrowed.Conclusion:The DRG payment reform has produced a significant spillover effect,leading to a decrease in the medical expense level and an improvement in the expense structure for non-local inpatients.However,the medical expenses of non-local inpatients remain relatively high.It is suggested to accelerate the inclusion of non-local inpatients in disease-specific payment management and strengthen the coordination between the hospital's internal operation management and the reform of medical insurance payment methods.

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