Objective:To explore the phenotypic heterogeneity among patients harboring identical pathogenic variants in the dystrophin ( DMD) gene by analyzing clinical and imaging data from 7 pairs of male twins with dystrophinopathy. Methods:Clinical and laboratory data of 14 (7 pairs) male twins diagnosed with dystrophinopathy through genetic testing among 1 767 patients at Peking University First Hospital from January 2017 to October 2024 were collected. Eleven patients underwent thigh muscle magnetic resonance imaging (MRI), and muscle biopsies were performed in at least 1 case of each pair.Results:Among the 7 pairs of twin patients, 2 pairs had Duchenne muscular dystrophy, and 5 pairs had Becker muscular dystrophy. In terms of variant types, 4 pairs had in-frame deletions, while the remaining 3 pairs had duplication variants, frameshift variants, and nonsense variants, respectively. Clinically, 6 individuals had asymptomatic hypercreatine kinasemia, and 8 had varying degrees of limb weakness. Among the 5 pairs of symptomatic twins, there were differences in the degree of limb weakness. Four individuals showed no significant abnormalities in thigh muscle MRI, 7 showed fat infiltration mainly in the bilateral gluteus maximus and adductor magnus muscles, and 2 pairs of twins had obvious differences in the degree of fat infiltration in muscle MRI. Muscle biopsies revealed dystrophic or mild myopathic pathological changes, with 2 individuals showing severe loss of dystrophin, while the others had partial loss.Conclusions:Dystrophinopathy exhibits significant individual differences. Even among individuals with highly similar genetic background, clinical and imaging manifestations caused by the same pathogenic variant also vary.

Objective:To explore the phenotypic heterogeneity among patients harboring identical pathogenic variants in the dystrophin ( DMD) gene by analyzing clinical and imaging data from 7 pairs of male twins with dystrophinopathy. Methods:Clinical and laboratory data of 14 (7 pairs) male twins diagnosed with dystrophinopathy through genetic testing among 1 767 patients at Peking University First Hospital from January 2017 to October 2024 were collected. Eleven patients underwent thigh muscle magnetic resonance imaging (MRI), and muscle biopsies were performed in at least 1 case of each pair.Results:Among the 7 pairs of twin patients, 2 pairs had Duchenne muscular dystrophy, and 5 pairs had Becker muscular dystrophy. In terms of variant types, 4 pairs had in-frame deletions, while the remaining 3 pairs had duplication variants, frameshift variants, and nonsense variants, respectively. Clinically, 6 individuals had asymptomatic hypercreatine kinasemia, and 8 had varying degrees of limb weakness. Among the 5 pairs of symptomatic twins, there were differences in the degree of limb weakness. Four individuals showed no significant abnormalities in thigh muscle MRI, 7 showed fat infiltration mainly in the bilateral gluteus maximus and adductor magnus muscles, and 2 pairs of twins had obvious differences in the degree of fat infiltration in muscle MRI. Muscle biopsies revealed dystrophic or mild myopathic pathological changes, with 2 individuals showing severe loss of dystrophin, while the others had partial loss.Conclusions:Dystrophinopathy exhibits significant individual differences. Even among individuals with highly similar genetic background, clinical and imaging manifestations caused by the same pathogenic variant also vary.

OBJECTIVE To establish the quality standard of Triadica cochinchinensis and to perform the acute toxicity study. METHODS Appearance properties, powder microscopic identification, and thin-layer chromatography(TLC) identification were researched. The specific chromatogram was established by HPLC. The content of cadmium(Cd), lead(Pb), arsenic(As), copper(Cu), and mercury(Hg) was determined by inductively coupled plasma-mass spectrometry(ICP-MS). Acute toxicity was studied by maximum dose. RESULTS The outer skin of herbs was dark brown, and the inner surface was light yellow brown and fibrous. Besides, crystal sheath fiber was common, and calcium oxalate clusters arranges in rows. In the TLC diagram of the test product, the fluorescent spots of the same color were displayed at the corresponding position of the control product(scopoletin, isofraxidin). Five common peaks were calibrated in the characteristic map and the three characteristic peaks(scopoletin, isofraxidin, dimethylfraxetin) were recognized. The content of the measured heavy metal elements was lower than the national limit standard. The linear correlation coefficient was R2 > 0.999. The precision, stability, repetitive RSD were < 10%. The average recovery rate of the added sample was 80%−120%, and the RSD was < 10%. The maximum dose of the acute toxicity test was 184.09 g·kg−1. The 14 d internal body mass, food intake, organ-body ratios, the serum glutamic pyruvic transaminase, glutamic oxaloacetic transaminase, blood urea nitrogen, and creatinine were not significantly different by comparing with the normal controls. Therefore, no significant toxicity was observed. CONCLUSION The established standard can provide a reference for evaluating the quality of Triadica cochinchinensis. The heavy metal content of ten batches of medicinal materials is within the safe range. Acute toxicity test show that there is no obvious significant adverse teactions after oral administration, and the safe dose range is large, which can provide a reference for the subsequent development and utilization.

Objective:To investigate the intervention effects of fracture liaison service (FLS)-based intervention in elderly patients with meniscus injury, to provide reference for clinical rehabilitation.Methods:A total of 86 elderly patients with meniscus injury from February 2018 to October 2019 in the Second Affiliated Hospital of Xi ′an Jiaotong University were divided into experimental group and control group according to random number table method. There were 43 cases in each group.The control group was given routine nursing, and the experimental group implemented FLS-based nursing intervention on the basis of the control group. The clinical effects were compared between the two groups by using knee function, knee joint mobility and degree of frailty. Results:Finally, 38 cases were included in the experimental group and 41 cases in the control group. There was no significant difference in knee function, knee joint mobility and degree of frailty between the two groups at discharge ( P>0.05). At 1, 3 months after discharge, the knee scores and knee joint mobility were (75.37 ± 4.68) points, (90.34 ± 3.02) points and (96.68 ± 8.11)°, (119.11 ± 7.92)° in the experimental group, higher than those in the control group (73.17 ± 3.92) points, (87.76 ± 2.93) points and (91.76 ± 7.75)°, (108.61 ± 7.72)°, the differences were statistically significant ( t values were 2.26-5.96, all P<0.05). The knee function scores and knee joint mobility of the two groups changed with time ( F=264.33, 279.54, both P<0.05). There were interaction effects between groups and time in the knee joint mobility of the two groups ( F=6.12, P<0.05). At 1, 3, 6 months after discharge, the physiological dimension scores and frailty total scores were 5.08 ± 1.34, 4.74 ± 1.10, 4.13 ± 0.88 and 8.32 ± 1.50, 7.82 ± 1.31, 6.82 ± 0.95 in the experimental group, lower than those in the control group 5.68 ± 1.15, 5.22 ± 0.85, 5.02 ± 0.76, 9.05 ± 1.28, 8.40 ± 0.89, 8.18 ± 0.90, the differences were statistically significant ( t values were 2.15-6.57, all P<0.05). At 6 months after discharge, the psychological and cognitive dimension scores were 0.98 ± 0.30 and 0.45 ± 0.24 in the experimental group, lower than those in the control group 1.32 ± 0.37 and 0.59 ± 0.22, the differences were statistically significant ( t=4.49, 2.82, both P<0.05). The physiological and cognitive dimension scores and total scores of the two groups changed with time ( F=30.61, 31.72, 38.50, all P<0.05). There were interaction effects between groups and time in the physiological demension scores and the frailty total scores of the two groups ( F=2.86, 4.03, both P<0.05). Conclusions:FLS-based intervention can promote the rehabilitation of knee joint function and alleviate the degree of frailty of elderly patients with meniscus injury.

Objective:To analyze the reform actions on raising the appropriateness of inpatient care use, as well as the current situation, so as to provide suggestions on improving the appropriateness.Methods:Policies and literatures on the appropriateness of inpatient care use released from 2009 to 2021 were collected from such official websites as the State Council and China National Health Commission as well as literature databases from home and abroad, for a text analysis. Based on the data of China Health Statistics Yearbook(2010-2021) and The Sixth National Health Service Survey Report (2018), descriptive methods were adopted to analyze the situation of inpatient care use in China. Results:Since the new healthcare reform, the Chinese government had standardized the hospitalization standards and procedures to minimize inappropriate use of inpatient care, increased financial subsidies for public hospitals to minimize their inappropriate patient attraction merely for economic interests, and reformed the medical insurance payment methods so as to regulate physicians′ behavior. Under the influence of the above policies, the average length of stay decreased from 10.5 days in 2009 to 9.1 days in 2019, with an average annual growth rate of -1.42%. The average waiting time in hospitals decreased from 3.6 days in 2008 to 1.5 days in 2018.From 2012 to 2019, the admission rate increased from 13.2% to 19.0%.Conclusions:Since the new healthcare reform, the average length of stay in China has decreased year by year, but the admission rate has increased year by year. Therefore, it is necessary to further reduce the inappropriate utilization of inpatient care use by speeding up the construction of the close-type medical alliances, improving the reform of payment methods, refining the performance appraisal standards for medical staff and strengthening supervision mechanism.

【Objective】 According to the need and practice of the National Medical Center Construction, this study structures the project communication management framework of the National Medical Center Construction based on Boyd/OODA loop and describes its background and practical path so as to explore its implementation efficiency. 【Methods】 The theoretical framework was constructed and applied by means of lessons learned and case analysis. 【Results】 The framework can meet various needs of project communication management of the National Medical Center Construction at different stages of epidemic prevention and control. 【Conclusion】 The framework can improve the effectiveness, systematicness, coordination and efficiency of the National Medical Center Construction, and provide theoretical and empirical underpinning. Considerably more innovative and interdisciplinary research is needed in communication management.

Objective:To explore the diagnostic performance of ultrasound attenuation imaging (ATI) in grading the degree of hepatic steatosis in metabolic dysfunction-associated fatty liver disease (MAFLD).Methods:The liver gray-scale ultrasound and ATI examinations were performed on 212 subjects who were treated in Zhongshan Hospital Affiliated to Fudan University from August 2020 to March 2021. The attenuation coefficient(AC) values among different degrees of hepatic steatosis were analyzed and the diagnostic performance of ATI was evaluated. Relationships between AC values and clinical characteristics were assessed by Pearson′s correlation analysis.Results:The AC values for normal liver, mild, moderate and severe fatty liver were (0.56±0.05)dB·cm -1·MHz -1, (0.68±0.09)dB·cm -1·MHz -1, (0.82±0.09)dB·cm -1·MHz -1, (0.94±0.09)dB·cm -1·MHz -1, respectively. There were significant differences in AC values among different hepatic steatosis divisions( P<0.008). There was highly significant correlation between AC values and the degree of hepatic steatosis( r=0.860, P<0.01), moderate correlation between AC values and BMI( r=0.425, P<0.01), weak correlation between AC values and HDL-C( r=-0.237, P=0.029), no correlations between AC values and age, TC, TG, LDL-C ( r=0.083, 0.055, 0.133, -0.039, all P>0.05) .The areas under the receiver operating characteristics curve of ATI for mild fatty liver and above, moderate fatty liver and above, severe fatty liver and above were 0.958, 0.962, 0.918; the sensitivity were 90.1%, 95.8%, 94.9%, the specificity were 96.1%, 87.1%, 73.9%, and the cut-off values were 0.666 dB·cm -1·MHz -1, 0.719 dB·cm -1·MHz -1, 0.803 dB·cm -1·MHz -1, respectively. Conclusions:ATI is a reliable and convenient method for evaluating the degree of hepatic steatosis in MAFLD.

As a member of the AFF (AF4/FMR2) family, AFF4 is a transcription elongation factor that is a component of the super elongation complex. AFF4 serves as a scaffolding protein that connects transcription factors and promotes gene transcription through elongation and chromatin remodelling. Here, we investigated the effect of AFF4 on human dental follicle cells (DFCs) in osteogenic differentiation. In this study, we found that small interfering RNA-mediated depletion of AFF4 resulted in decreased alkaline phosphatase (ALP) activity and impaired mineralization. In addition, the expression of osteogenic-related genes (DLX5, SP7, RUNX2 and BGLAP) was significantly downregulated. In contrast, lentivirus-mediated overexpression of AFF4 significantly enhanced the osteogenic potential of human DFCs. Mechanistically, we found that both the mRNA and protein levels of ALKBH1, a critical regulator of epigenetics, changed in accordance with AFF4 expression levels. Overexpression of ALKBH1 in AFF4-depleted DFCs partially rescued the impairment of osteogenic differentiation. Our data indicated that AFF4 promoted the osteogenic differentiation of DFCs by upregulating the transcription of ALKBH1.
Biomarkers ; metabolism ; Cell Differentiation ; Cells, Cultured ; Dental Sac ; drug effects ; metabolism ; Gene Expression Regulation ; Humans ; Osteogenesis ; genetics ; Repressor Proteins ; Transcription Factors ; genetics ; metabolism ; Transcriptional Elongation Factors ; metabolism

Objective To understand the job satisfaction of health technicians at township health centers and explore the strategies of improvement.Methods Based on the theory of existence,relatedness and growth needs,both quantitative and qualitative methods were used in the study.The quantitative investigation was carried out with the multi-stage cluster sampling method.The questionnaire for township health center personnel was compiled by the research group as a measuring tool for a survey of 803 health technicians from 45 township health centers regarding their existence,relatedness and growth needs in terms of existence,relatedness and growth needs.The data acquired were subject to descriptive analysis and variance analysis.The qualitative investigation was made by means of convenient sampling in personal indepth interviews.The thematic framework method was used to analyze the contents of the interviews.Results The satisfaction of existence needs of health technicians at township health centers scored the lowest(2.59),followed by that of growth needs(2.91),and the highest scoring was relatedness needs(3.56).There exist significant differences in the scoring of existence,relatedness and growth needs,among different personnel category,gender,age,staffing quota,administrative posts,and academic titles.Conclusions The authorities should emphasize the existence,relatedness and growth needs of health technicians at township health centers,and improve their job satisfaction by perfecting the salary distribution system and perfecting the personnel training system.

Objective:This study aims at exploring the impact of the health resources allocation on healthcare seeking behavior of inpatients with different income in China. Methods:Data at individual level were collected from China National Health Service Surveys conducted in 2008 and 2013 , interlinked with the data of health resources in county level. Multilevel zero-inflated negative binomial regression and multilevel multinomial logit model were respec-tively used to examine the impact of the health resources allocation on inpatient visits and the influence of the choice of healthcare providers by inpatients. Results: The results show that the increase of the number of beds in primary health centers ( PHCs) and physicians in county hospitals increased inpatient visits within counties. The investments in health resources in PHCs had greater impact on improving the likelihood of inpatient visits within counties for the low-income populations than that for the high-income populations. Conclusion: Investments in health resources in PHCs are vital to improve the healthcare seeking behaviors of the low-income populations in China.