1.The Clinical and Genetics Characteristics of Oculopharyngodistal Myopathy
Jiaxi YU ; Zhihao QUAN ; Yilei ZHENG ; Jing AN ; Jing LIU ; Qingqing WANG ; Lingchao MENG ; Meng YU ; Zhiying XIE ; Jianwen DENG ; He LYU ; Wei ZHANG ; Yun YUAN ; Zhaoxia WANG
JOURNAL OF RARE DISEASES 2026;5(2):164-174
To analyze the clinical and genetic features of oculopharyngodistal myopathy (OPDM) patients and compare the phenotypic differences among various causative genes. A total of 65 genetically confirmed OPDM patients from 43 unrelated families, who were admitted to the Department of Neurology, Peking University First Hospital between January 2008 and December 2025, were retrospectively included.The general demographic data, clinical manifestations, laboratory/auxiliary examinations, muscle pathology, and genetic test results were systematically collected and analyzed. The clinical and pathological characteristics among different OPDM subtypes were compared. Among the 65 patients(39 male and 26 female), the mean age of onset was (31.20±10.43) years (range: 14 to 63 years). The initial symptom was predominantly distal limb weakness (67.44%), which gradually progressed to involve the extraocular muscles, pharyngeal muscles, facial muscles and proximal limb muscles. Serum creatine kinase levels were mildly to moderately elevated. Muscle pathological examinations revealed rimmed vacuoles and intranuclear inclusions (within muscle fibers). The mean duration from onset to diagnosis was (12.33±7.88) years (range: 1 to 32 years). All probands had negative results on conventional next-generation whole-exome sequencing; pathogenic variants were identified through third-generation long-read sequencing or OPDM-targeted repeat-primed polymerase chain reaction(RP-PCR). Among the 43 families, OPDM2 subtype was the most common genetic subtype ( OPDM2 was the predominant subtype in this study. All subtypes share similar age of onset and muscular pathological changes, yet exhibit distinct disease progression patterns. Future multicenter prospective cohort studies are warranted to further elucidate the clinical characteristics, pathogenetic mechanisms, and prognostic differences among OPDM subtypes.
2.Incidence and influencing factors of atrial fibrillation in elderly patients with chronic obstructive pulmonary disease
Jiajia LI ; Hui HU ; Jian ZHANG ; Ju ZHAO ; Qiumei YANG ; Qingqing TANG ; Ling YUAN
Journal of Public Health and Preventive Medicine 2026;37(4):86-90
Objective To analyze the incidence rate and risk factors of atrial fibrillation (AF) in elderly patients with chronic obstructive pulmonary disease (COPD). Methods A total of 392 patients with COPD in the hospital were selected from December 2020 to December 2024. Patients' data (medical history, echocardiographic data, etc.) were recorded. The incidence rate of AF in patients was recorded and the patients were grouped according to whether or not they developed AF. The differences were compared between the two groups, and the risk factors of AF occurrence in elderly patients with COPD were analyzed. Results Among the 392 patients with COPD, 127 cases (32.40%) met the diagnostic criteria of AF. There were statistically significant differences in age, pulmonary infection, heart failure, diabetes, smoking history, disease duration, LAD, severe renal insufficiency and coronary heart disease between the AF group and the non-AF group (P<0.05). Multivariate logistic regression analysis suggested that age, pulmonary infection, heart failure, diabetes mellitus, smoking history, disease course, LAD, severe renal insufficiency and coronary heart disease were all risk factors for elderly patients with COPD (OR=1.129, 4.246, 3.955, 4.125, 2.038, 1.112, 1.102, 4.397, and 3.865, P<0.05). Conclusion The incidence rate of AF is high in elderly patients with COPD. Age, pulmonary infection, heart failure, diabetes mellitus, smoking history, course of disease, LAD, severe renal insufficiency, and coronary heart disease are all risk factors for AF.
3.Predictive value of biomarkers for steroid resistance and prognosis in patients with immune checkpoint inhibitor-associated myocarditis
Yinman WANG ; Qingqing CAI ; Yan WANG ; Yuan LIU ; Qianzhou LÜ ; Leilei CHENG
Chinese Journal of Clinical Medicine 2026;33(4):607-614
Objective To investigate predictive value of soluble growth stimulation-expressed gene 2 protein (sST2), cardiac troponin T (cTnT), and creatine kinase-myocardial band (CK-MB) for steroid resistance and prognosis in patients with immune checkpoint inhibitor-associated myocarditis (ICIAM). Methods A total of 28 patients with ICIAM were prospectively enrolled from March 2023 to February 2024 at Zhongshan Hospital, Fudan University. All participants were divided into the steroid-resistant ICIAM (srICIAM) group and the non-srICIAM group. Baseline serum levels of sST2, cTnT and CK-MB were detected prior to treatment initiation. ROC curve analysis was applied to evaluate the predictive value of these biomarkers, and Kaplan-Meier survival analysis was performed to explore the relationship between sST2 and all-cause mortality. Results Baseline sST2, cTnT, and CK-MB levels were significantly higher in the srICIAM group (n=15) than in the non-srICIAM group (n=13, P<0.05). Combination of cTnT and sST2 improved predictive performance for srICIAM (AUC=0.857, sensitivity 0.714, specificity 1.000). After 6 months of follow-up, the high sST2 group had a significantly higher all-cause mortality than the low sST2 group (P=0.016). Conclusions The combination of sST2 and cTnT could effectively predict srICIAM, and elevated sST2 is associated with increased higher all-cause mortality in ICIAM patients, providing a basis for early risk stratification and treatment optimization.
4.Risk factors for low blood pressure in patients with refractory heart failure: a discussion based on comorbidities and clinical indicators
Jiamin ZAN ; Bailing ZHANG ; Fenglai ZHOU ; Shuling ZHANG ; Rong ZHANG ; Tiantian YUAN ; Jingli DAI ; Yuanxin KANG ; Qingqing YANG
Journal of Public Health and Preventive Medicine 2026;37(5):101-105
Objective To analyze the occurrence status of low blood pressure (BP) in patients with refractory heart failure (RHF) and its relationship with comorbidities. Methods A retrospective analysis was conducted on the clinical data of 360 patients with RHF who were hospitalized in department of cardiology of Affiliated Nantong Hospital of Shanghai University from May 2021 to May 2025. These patients were divided into the RHF with BP group and the RHF group based on their blood pressure at admission. The general data and comorbidities were compared between both groups. Multivariate logistic regression analysis was used to identify the risk factors for coexisting BP. Results The heart rate (HR), N-terminal pro-B-type natriuretic peptide (NT-proBNP), blood urea nitrogen, high-sensitivity cardiac troponin T, right atrial diameter, proportion of cardiac function grade IV, use rate of diuretics and prevalence rate of dilated cardiomyopathy (DCM) in the RHF with BP group were higher while the high-density lipoprotein cholesterol (HDL-C), albumin, left ventricular ejection fraction, use rate of lipid-lowering drugs and prevalence rate of coronary heart disease were lower compared to the RHF group, and the differences were statistically significant (P<0.05). Multivariate logistic regression analysis suggested that increased HR (OR=1.685, 95%CI: 1.106-2.569), increased NT-proBNP (OR=1.772, 95%CI: 1.138-2.759), decreased HDL-C (OR=0.605, 95%CI: 0.400-0.917) and DCM (OR=1.956, 95%CI: 1.176-3.255) were independent risk factors affecting BP in RHF patients (P<0.05). Conclusion The incidence rate of low blood pressure in elderly RHF patients is about 19.17%. Increased heart rate, increased NT-proBNP, decreased HDL-C and dilated cardiomyopathy are closely linked to the occurrence of low blood pressure, and they can be used as clinically related factors to identify patients at high risk of low blood pressure.
5.Association Between the Triglyceride High-density Cholesterol-glucose Body Index and Gestational Giabetes Mellitus
Qingqing WANG ; Yuan ZHANG ; Peiling GUO ; Xiaodan CHEN ; Zhenyan HAN
Journal of Sun Yat-sen University(Medical Sciences) 2026;47(4):699-708
ObjectiveTo explore the relationship between triglyceride high-density cholesterol-glucose body index (TyHGB) and gestational diabetes mellitus (GDM). MethodsThis single-center retrospective cohort study was conducted. A total of 723 singleton pregnant women who received prenatal care and delivered at Lingnan Hospital, the Third Affiliated Hospital of Sun Yat-sen University, from May 2024 to July 2024 were enrolled. Clinical baseline data and laboratory test results in the first trimester (before 13+6 weeks of gestation) were collected. Based on the tertiles of the TyHGB index were equally divided into 3 groups. Clinical baseline data, and GDM risk were compared among the three groups. ResultsCompared with the control group, the GDM group had older maternal age, higher Pre-pregnancy BMI, FPG, TG, and higher values of 75 g OGTT fasting plasma glucose, 1 h plasma glucose, and 2 h plasma glucose. The early-pregnancy TyHGB index, andincidence of macrosomiawere all higher in the GDM group than in the control group ( all P<0.05), whereas gestational weight gain (GWG) was lower than that of the control group (P<0.05). The individuals were divided into three groups according to the tertiles of the TyHGB index. Significantly differences were identified among TyHGB index tertiles in maternal age, parity, Pre-BMI, FPG, TC, TG, HDL-C, LDLL-C, Ur, 75 g OGTT fasting plasma glucose, 1 h plasma glucose, 2 h plasma glucose, GWG, neonatal birth weight, GDM, GH, macrosomia incidence, and cesarean section rate(all P<0.05). Further trend test analysis found that matenal age, parity, Pre-BMI, FPG, TC, TG, LDL-C, 75 g OGTT_FPG, 75 g OGTT_1 h PG and 75 g OGTT_2 h PG level, neonatal birth weight, GDM, GH, incidence of macrosomia and cesarean section rate all showed an upward trend. The multivariate Logistic regression models revealed that there was an independent positive correlation between TyHGB index and the risk of GDM. Curve fitting by restricted cubic splines (RCS) were used to assess linearity between TyHGB and GDM, and there was a linear dose-response relationship between TyHGB and GDM (P nonlinear test = 0.597). The threshold value for early pregnancy TyHGB index to predict GDM was 6.449 , with an area under the curve (AUC) of 0.644 (95% CI: 0.597-0.691), sensitivity of 0.480 , and specificity of 0.779. After adjusting for maternal age, Pre-BMI, family history of diabetes, and history of GDM, the AUC for the early pregnancy TyHGB index to predict GDM was 0.672 (95% CI: 0.626-0.718). ConclusionThe early-pregnancy TyHGB index is independently associated with GDM risk, and exhibits a linear dose-response relationship with GDM. It may serve as an early screening and monitoring tool for pregnant women at high risk of GDM. However, its predictive value for GDM requires further validation.
6.Mechanisms of Intestinal Microecology in Hyperuricemia and Traditional Chinese Medicine Intervention:A Review
Mingyuan FAN ; Jiuzhu YUAN ; Hongyan XIE ; Sai ZHANG ; Qiyuan YAO ; Luqi HE ; Qingqing FU ; Hong GAO
Chinese Journal of Experimental Traditional Medical Formulae 2025;31(5):329-338
In recent years, hyperuricemia (HUA) has shown a rapidly increasing incidence and tends to occur in increasingly young people, with a wide range of cardiac, renal, joint, and cancerous hazards and all-cause mortality associations. Western medicine treatment has limitations such as large liver and kidney damage, medication restriction, and easy recurrence. The intestine is the major extra-renal excretion pathway for uric acid (UA), and the intestinal microecology can be regulated to promote UA degradation. It offers great potential to develop UA-lowering strategies that target the intestinal microecology, which are promising to provide safer and more effective therapeutic approaches. Traditional Chinese medicine (TCM) can treat HUA via multiple targets and multiple pathways from a holistic view, with low toxicity and side effects. Studies have shown that intestinal microecology is a crucial target for TCM in the treatment of HUA. However, its specific mechanism of action has not been fully elucidated. Focusing on the key role of intestinal microecology in HUA, this review explores the relationship between intestinal microecology and HUA in terms of intestinal flora, intestinal metabolites, intestinal UA transporters, and intestinal barriers. Furthermore, we summarize the research progress in TCM treatment of HUA by targeting the intestinal microecology, with the aim of providing references for the development of TCM intervention strategies for HUA and the direction of future research.
7.Development and validation of a multidisciplinary risk assessment scale for immune checkpoint inhibitor-associated myocarditis
Yanan DAI ; Yuan LIU ; Yuchen XU ; Qingqing CAI ; Yan WANG ; Yuhong ZHOU ; Leilei CHENG ; Junbo GE
Chinese Journal of Clinical Medicine 2025;32(4):561-567
Objective To develop a risk assessment scale for immune checkpoint inhibitor (ICI)-associated myocarditis based on multidisciplinary collaboration, and to evaluate its diagnostic performance. Methods Based on multidisciplinary cooperation, integrating clinical experience from oncology and cardiology, literature data, and patient conditions, a risk assessment scale for ICI-associated myocarditis was developed. A total of 101 patients with malignancies who received immunotherapy at Zhongshan Hospital, Fudan University, from October 2020 to October 2024 were included as the validation cohort. Patients were stratified into low-risk (0-1 point), medium-risk (2-4 points), and high-risk (≥5 points) groups based on their scale scores. The association between pretictive risk stratifications and actual assessment results was assessed using the Cox proportional hazards regression model. The predictive value of the scale for ICI-associated myocarditis was evaluated using receiver operating characteristic (ROC) curve. Agreement between the scale scores and actual assessment results was assessed using Cohen’s Kappa coefficient. Results Based on the scale pretictive results, 28(27.7%), 8(7.9%), 65(64.4%) patients were at low risk, medium risk, and high risk for ICI-related myocarditis, respectively; however, 46(45.5%), 8(7.9%), 47(46.5%) were at low risk, medium risk, and high risk actually. Kaplan-Meier survival analysis showed that the cumulative incidence of ICI-related myocarditis in the high-risk group was significantly higher than that in the medium- and low-risk groups (P<0.05). In the multivariable-adjusted Cox proportional hazards model, the ICI-related myocarditis risk in high-risk group was about 4 times that in the low-risk group. ROC curve analysis demonstrated that the average area under the curve (AUC) for predicting ICI-related myocarditis was 0.81, with an accuracy of 0.74. The Cohen’s Kappa coefficient was 0.55, indicating moderate agreement. In the actual high-risk group, no patient was predicted to be at low risk; in the actual low-risk group, 16 patients were predicted to be at high risk. Conclusions This risk assessment scale for ICI-associated myocarditis shows high predictive performance. It provides oncologists with a simple yet effective multidisciplinary diagnostic reference tool, potentially enhancing early identification of ICI-associated myocarditis.
8.Analysis of the current situation and influencing factors of osteoporosis knowledge among orthopedic nurses in 621 hospitals
Mi SONG ; Chen QIU ; Qingqing SU ; Mengqi SHAO ; Qingmei WANG ; Yuan GAO
Chinese Journal of Nursing 2025;60(1):77-83
Objective To investigate the current status and analyze the factors affecting the osteoporosis knowledge among orthopedic nurses,and to provide references for improving osteoporosis knowledge among orthopedic nurses.Methods We investigated 5 681 orthopedic nurses from 621 hospitals in 31 provinces(autonomous regions/municipalities)using a convenient sampling method from September 2023 to November 2023.We collected information using a general information questionnaire and osteoporosis knowledge assessment tool.We used univariate and multivariate logistic regression to identify risk factors.Results A total of 5 204 orthopedic nurses were included.The total mean score of osteoporosis knowledge assessment tool of nurses was[13.00(12.00,14.00)],and 23.48%nurses had a low level of osteoporosis awareness.Logistic regression analysis showed that the age,title and position of the nurses,location of the hospital,the level of the hospital,whether to conduct the fracture liaison service/to set up the refracture prevention team,whether to use calcium tablets/vitamin D,whether to carry out anti-osteoporosis drug therapy,and whether to conduct topical lectures on osteoporosis or secondary fractures,were the factors that affected orthopedic nurses'knowledge of osteoporosis(P<0.05).Conclusion The osteoporosis knowledge of orthopedic nurses needs to be improved.Nursing managers should carry out personalized interventions from both hospital and nurse levels to improve the osteoporosis knowledge of orthopedic nurses in our country.
9.Predictive value of intrapartum ultrasound indicators for difficulty assessment in vacuum-assisted delivery
Pei ZHANG ; Yuan ZHANG ; Qingqing WANG ; Hongying HOU ; Zhenyan HAN
Chinese Journal of Perinatal Medicine 2025;28(3):194-202
Objective:To investigate the predictive role of intrapartum ultrasound indicators on the difficulty of vacuum-assisted delivery.Methods:A prospective cohort study was conducted. The study subjects were singleton pregnant women hospitalized for delivery at the Third Affiliated Hospital of Sun Yat-sen University from February 2021 to December 2022, who had indications for vacuum-assisted delivery, and completed intrapartum ultrasound examination within 10 minutes before the procedure. Intrapartum ultrasound indicators included fetal position, angle of progression (AOP), and head-perineum distance (HPD). Based on the difficulty of vacuum-assisted delivery, the subjects were divided into easy and difficult groups. The fetal position, AOP, and HPD before vacuum-assisted delivery and delivery outcomes were compared between the two groups to explore the correlation and predictive value of intrapartum ultrasound indicators on the difficulty of vacuum-assisted delivery. Statistical and predictive value analyses were performed using independent-sample t-test, U-test, Chi-square (or Fisher's exact) test, logistic regression analysis, and receiver operating characteristic (ROC) curve. Results:A total of 162 cases were included in the study, with 120 in the easy and 42 in the difficult groups. The age of the 162 pregnant women ranged from 20 to 44 years, with an average of (30.6±3.9) years; 107 cases (66.0%) were first pregnancies, and 139 cases (85.8%) were primipara. (1) The fetal head stations in the difficult and easy groups were 2.3 (2.0-2.5) cm and 2.0 (2.0-2.5) cm, respectively, with no statistically significant difference ( P>0.05). The AOP during the interval and contraction periods and the ΔAOP in the difficult group were smaller than those in the easy group [ (138.1±8.8) vs. (143.8±7.9), t=3.89; (148.7±9.3) vs. (157.9±8.9), t=5.67; and (10.6±6.4) vs. (14.1±6.3), t=3.08; all P<0.01], while the HPD during the interval and contraction periods and ΔHPD in the difficult group were greater than those in the easy group [(3.4±0.5) cm vs. (3.2±0.4) cm, t=-2.69; (2.8±0.5) cm vs. (2.4±0.5) cm, t=-4.70; (-0.5±0.4) cm vs. (-0.8±0.5) cm, t=-2.83; all P<0.01]. (2) In the difficult group, seven cases required forceps delivery after 2-3 vacuum cup detachments; in the easy group, all cases were successfully delivered after 1-2 vacuum tractions. The duration of vacuum extraction was longer in the difficult group [7.0 (6.0-10.0) min vs. 3.0 (2.0-3.0) min, Z=9.65] (all P<0.001). (3) In the difficult group, four cases had severe maternal and neonatal delivery complications, including two cases of shoulder dystocia, one case of vesicovaginal fistula after failed vacuum extraction converted to forceps delivery, and one case of third-degree perineal tear after failed vacuum extraction converted to forceps delivery. In the easy group, one case had shoulder dystocia with mild neonatal asphyxia. The rate of vaginal tears in the difficult group was higher than in the easy group [47.6% (20/42) vs. 29.2% (35/120)] ( χ2=4.72, P=0.030). The incidence of postpartum hemorrhage in the difficult and easy groups was 11.9% (5/42) and 8.3% (10/120), respectively, with no statistically significant difference (Fisher's exact test, P=0.539). No cases required cesarean section after failed vacuum extraction. The incidence of scalp hematoma was higher in the difficult group than in the easy group [28.6% (12/42) vs. 11.7% (14/120), χ2=6.60, P=0.010]. The two groups had no statistically significant differences in the incidence of other neonatal complications. (4) Multivariate logistic regression analysis identified three independent variables associated with difficult vacuum extraction: maternal age, AOP and HPD during contraction. The ROC curve was used to test the predictive value of the multivariate model for difficult vacuum extraction, with an area under the curve of 0.808 (95% CI: 0.734-0.882) ( P<0.001). When the maximum Youden index (0.487) was taken, the sensitivity and specificity of the model in predicting difficult vacuum extraction were 0.762 (95% CI: 0.696-0.828) and 0.725 (95% CI: 0.656-0.794), respectively. Conclusions:AOP and HPD are related to the difficulty of vacuum extraction. The risk of difficult vacuum extraction increases with advanced maternal age, smaller AOP and larger HPD during the contraction phase.
10.Correlation between levels of physical activity and carotid intima-media thickening in patients with type 2 diabetes mellitus with poor glycosylated hemoglobin control
Dan FANG ; Qian CUI ; Qingqing LOU ; Zhenzhen SUN ; Xiaodong CHEN ; Ping YAO ; Xiaodan YUAN
Chinese Journal of Diabetes 2025;33(2):90-97
Objective To explore the effects of physical activity(PA)on carotid intima-media thickness(CIMT)thickening in patients with type 2 diabetes mellitus(T2DM)with poor HbA1c control.Methods A total of 2505 T2DM inpatients with poor HbA1c control who visited the Endocrinology Department of the Integrated Traditional Chinese and Western Medicine Hospital Affiliated with Nanjing University of Traditional Chinese Medicine and Changzhou Second People's Hospital Affiliated with Nanjing Medical University from January 2019 to February 2022 were enrolled in this study.The patients were categorized into the mild-intensity PA(1~599 MET-min/w,n=795),moderate-intensity PA(600~1499 MET-min/w,n=1107)and high-intensity PA(≥1500 MET-min/w,n=603)based on the metabolic equivalence level(MET).Logistic regression was performed to analyze the relationship between PA and CIMT thickening.Statified analysis was used to investigate the effects of blood pressure(BP)and low-density lipoprotein cholesterol(LDL-C)target status on CIMT thickness in different PA groups.Results Restricted cubic spline plots showed a nonlinear relationship between PA levels and the risk of CIMT thickening(P<0.05).Logistic regression showed that with moderate-intensity PA as the control,while high-intensity PA was the influence factor of CIMT thickening(OR 1.581,95%CI 1.244~2.010,P<0.05).Statified analyses showed that under mild-intensity PA,using neither BP nor LDL-C on target as reference,achievement of either index and both were the influence factor of CIMT thickening.Using BP on target as reference,achievements of both indexes,achievements of neither of both indexes,and achievement of LDL-C only were the influence factor of CIMT thickening.Using LDL-C on target as reference,achievement of neither of them and achievement of BP only were the influence factor of CIMT thickening.Under high-intensity PA,achievement of both indexes was negatively associated with CIMT thickening.Conclusions Moderate-intensity PA is the recommended scheme to prevent CIMT thickening in T2DM patients whose HbA1c is not up to standard.Mild-intensity PA is not related to the risk of CIMT thickening,while high-intensity PA is positively related to the risk of CIMT thickening,and focusing on LDL-C compliance is particularly important to avoid CIMT thickening.


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