1.Characterization of non-alcoholic fatty liver disease–related hepatocellular carcinoma on contrast-enhanced ultrasound with Sonazoid
Yi DONG ; Juan CHENG ; Yun-Lin HUANG ; Yi-Jie QIU ; Jia-Ying CAO ; Xiu-Yun LU ; Wen-Ping WANG ; Kathleen MÖLLER ; Christoph F. DIETRICH
Ultrasonography 2025;44(3):232-242
Purpose:
This study aimed to evaluate the contrast-enhanced ultrasound with Sonazoid (Sonazoid-CEUS) features of hepatocellular carcinoma (HCC) in patients with non-alcoholic fatty liver disease (NAFLD).
Methods:
In this retrospective study, patients who underwent surgical resection and were histopathologically diagnosed with NAFLD or cirrhosis-related HCC were included. All patients received Sonazoid-CEUS examinations within 1 week prior to hepatic surgery. The enhancement patterns of HCC lesions were evaluated and compared between the two groups according to the current World Federation for Ultrasound in Medicine and Biology guidelines. Multivariate logistic regression analysis was used to assess the correlations between Sonazoid-CEUS enhancement patterns and clinicopathologic characteristics.
Results:
From March 2022 to April 2023, a total of 151 patients with HCC were included, comprising 72 with NAFLD-related HCC and 79 with hepatitis B virus (HBV) cirrhosis–related HCC. On Sonazoid-CEUS, more than half of the NAFLD-related HCCs exhibited relatively early and mild washout within 60 seconds (54.2%, 39/72), whereas most HBV cirrhosis–related HCCs displayed washout between 60 and 120 seconds (46.8%, 37/79) or after 120 seconds (39.2%, 31/79) (P<0.001). In the patients with NAFLD-related HCC, multivariate analysis revealed that international normalized ratio (odds ratio [OR], 0.002; 95% confidence interval [CI], 0.000 to 0.899; P=0.046) and poor tumor differentiation (OR, 21.930; 95% CI, 1.960 to 245.319; P=0.012) were significantly associated with washout occurring within 60 seconds.
Conclusion
Characteristic Sonazoid-CEUS features are useful for diagnosing HCC in patients with NAFLD.
2.Characterization of non-alcoholic fatty liver disease–related hepatocellular carcinoma on contrast-enhanced ultrasound with Sonazoid
Yi DONG ; Juan CHENG ; Yun-Lin HUANG ; Yi-Jie QIU ; Jia-Ying CAO ; Xiu-Yun LU ; Wen-Ping WANG ; Kathleen MÖLLER ; Christoph F. DIETRICH
Ultrasonography 2025;44(3):232-242
Purpose:
This study aimed to evaluate the contrast-enhanced ultrasound with Sonazoid (Sonazoid-CEUS) features of hepatocellular carcinoma (HCC) in patients with non-alcoholic fatty liver disease (NAFLD).
Methods:
In this retrospective study, patients who underwent surgical resection and were histopathologically diagnosed with NAFLD or cirrhosis-related HCC were included. All patients received Sonazoid-CEUS examinations within 1 week prior to hepatic surgery. The enhancement patterns of HCC lesions were evaluated and compared between the two groups according to the current World Federation for Ultrasound in Medicine and Biology guidelines. Multivariate logistic regression analysis was used to assess the correlations between Sonazoid-CEUS enhancement patterns and clinicopathologic characteristics.
Results:
From March 2022 to April 2023, a total of 151 patients with HCC were included, comprising 72 with NAFLD-related HCC and 79 with hepatitis B virus (HBV) cirrhosis–related HCC. On Sonazoid-CEUS, more than half of the NAFLD-related HCCs exhibited relatively early and mild washout within 60 seconds (54.2%, 39/72), whereas most HBV cirrhosis–related HCCs displayed washout between 60 and 120 seconds (46.8%, 37/79) or after 120 seconds (39.2%, 31/79) (P<0.001). In the patients with NAFLD-related HCC, multivariate analysis revealed that international normalized ratio (odds ratio [OR], 0.002; 95% confidence interval [CI], 0.000 to 0.899; P=0.046) and poor tumor differentiation (OR, 21.930; 95% CI, 1.960 to 245.319; P=0.012) were significantly associated with washout occurring within 60 seconds.
Conclusion
Characteristic Sonazoid-CEUS features are useful for diagnosing HCC in patients with NAFLD.
3.Characterization of non-alcoholic fatty liver disease–related hepatocellular carcinoma on contrast-enhanced ultrasound with Sonazoid
Yi DONG ; Juan CHENG ; Yun-Lin HUANG ; Yi-Jie QIU ; Jia-Ying CAO ; Xiu-Yun LU ; Wen-Ping WANG ; Kathleen MÖLLER ; Christoph F. DIETRICH
Ultrasonography 2025;44(3):232-242
Purpose:
This study aimed to evaluate the contrast-enhanced ultrasound with Sonazoid (Sonazoid-CEUS) features of hepatocellular carcinoma (HCC) in patients with non-alcoholic fatty liver disease (NAFLD).
Methods:
In this retrospective study, patients who underwent surgical resection and were histopathologically diagnosed with NAFLD or cirrhosis-related HCC were included. All patients received Sonazoid-CEUS examinations within 1 week prior to hepatic surgery. The enhancement patterns of HCC lesions were evaluated and compared between the two groups according to the current World Federation for Ultrasound in Medicine and Biology guidelines. Multivariate logistic regression analysis was used to assess the correlations between Sonazoid-CEUS enhancement patterns and clinicopathologic characteristics.
Results:
From March 2022 to April 2023, a total of 151 patients with HCC were included, comprising 72 with NAFLD-related HCC and 79 with hepatitis B virus (HBV) cirrhosis–related HCC. On Sonazoid-CEUS, more than half of the NAFLD-related HCCs exhibited relatively early and mild washout within 60 seconds (54.2%, 39/72), whereas most HBV cirrhosis–related HCCs displayed washout between 60 and 120 seconds (46.8%, 37/79) or after 120 seconds (39.2%, 31/79) (P<0.001). In the patients with NAFLD-related HCC, multivariate analysis revealed that international normalized ratio (odds ratio [OR], 0.002; 95% confidence interval [CI], 0.000 to 0.899; P=0.046) and poor tumor differentiation (OR, 21.930; 95% CI, 1.960 to 245.319; P=0.012) were significantly associated with washout occurring within 60 seconds.
Conclusion
Characteristic Sonazoid-CEUS features are useful for diagnosing HCC in patients with NAFLD.
4.Characterization of non-alcoholic fatty liver disease–related hepatocellular carcinoma on contrast-enhanced ultrasound with Sonazoid
Yi DONG ; Juan CHENG ; Yun-Lin HUANG ; Yi-Jie QIU ; Jia-Ying CAO ; Xiu-Yun LU ; Wen-Ping WANG ; Kathleen MÖLLER ; Christoph F. DIETRICH
Ultrasonography 2025;44(3):232-242
Purpose:
This study aimed to evaluate the contrast-enhanced ultrasound with Sonazoid (Sonazoid-CEUS) features of hepatocellular carcinoma (HCC) in patients with non-alcoholic fatty liver disease (NAFLD).
Methods:
In this retrospective study, patients who underwent surgical resection and were histopathologically diagnosed with NAFLD or cirrhosis-related HCC were included. All patients received Sonazoid-CEUS examinations within 1 week prior to hepatic surgery. The enhancement patterns of HCC lesions were evaluated and compared between the two groups according to the current World Federation for Ultrasound in Medicine and Biology guidelines. Multivariate logistic regression analysis was used to assess the correlations between Sonazoid-CEUS enhancement patterns and clinicopathologic characteristics.
Results:
From March 2022 to April 2023, a total of 151 patients with HCC were included, comprising 72 with NAFLD-related HCC and 79 with hepatitis B virus (HBV) cirrhosis–related HCC. On Sonazoid-CEUS, more than half of the NAFLD-related HCCs exhibited relatively early and mild washout within 60 seconds (54.2%, 39/72), whereas most HBV cirrhosis–related HCCs displayed washout between 60 and 120 seconds (46.8%, 37/79) or after 120 seconds (39.2%, 31/79) (P<0.001). In the patients with NAFLD-related HCC, multivariate analysis revealed that international normalized ratio (odds ratio [OR], 0.002; 95% confidence interval [CI], 0.000 to 0.899; P=0.046) and poor tumor differentiation (OR, 21.930; 95% CI, 1.960 to 245.319; P=0.012) were significantly associated with washout occurring within 60 seconds.
Conclusion
Characteristic Sonazoid-CEUS features are useful for diagnosing HCC in patients with NAFLD.
5.Characterization of non-alcoholic fatty liver disease–related hepatocellular carcinoma on contrast-enhanced ultrasound with Sonazoid
Yi DONG ; Juan CHENG ; Yun-Lin HUANG ; Yi-Jie QIU ; Jia-Ying CAO ; Xiu-Yun LU ; Wen-Ping WANG ; Kathleen MÖLLER ; Christoph F. DIETRICH
Ultrasonography 2025;44(3):232-242
Purpose:
This study aimed to evaluate the contrast-enhanced ultrasound with Sonazoid (Sonazoid-CEUS) features of hepatocellular carcinoma (HCC) in patients with non-alcoholic fatty liver disease (NAFLD).
Methods:
In this retrospective study, patients who underwent surgical resection and were histopathologically diagnosed with NAFLD or cirrhosis-related HCC were included. All patients received Sonazoid-CEUS examinations within 1 week prior to hepatic surgery. The enhancement patterns of HCC lesions were evaluated and compared between the two groups according to the current World Federation for Ultrasound in Medicine and Biology guidelines. Multivariate logistic regression analysis was used to assess the correlations between Sonazoid-CEUS enhancement patterns and clinicopathologic characteristics.
Results:
From March 2022 to April 2023, a total of 151 patients with HCC were included, comprising 72 with NAFLD-related HCC and 79 with hepatitis B virus (HBV) cirrhosis–related HCC. On Sonazoid-CEUS, more than half of the NAFLD-related HCCs exhibited relatively early and mild washout within 60 seconds (54.2%, 39/72), whereas most HBV cirrhosis–related HCCs displayed washout between 60 and 120 seconds (46.8%, 37/79) or after 120 seconds (39.2%, 31/79) (P<0.001). In the patients with NAFLD-related HCC, multivariate analysis revealed that international normalized ratio (odds ratio [OR], 0.002; 95% confidence interval [CI], 0.000 to 0.899; P=0.046) and poor tumor differentiation (OR, 21.930; 95% CI, 1.960 to 245.319; P=0.012) were significantly associated with washout occurring within 60 seconds.
Conclusion
Characteristic Sonazoid-CEUS features are useful for diagnosing HCC in patients with NAFLD.
6.2,3,5,4′-tetrahydroxyldiphenylethylene-2-O-glucoside Attenuates Cerebral Ischemia-reperfusion Injury via PINK1/LETM1 Signaling Pathway
Hongyu ZENG ; Kaimei TAN ; Feng QIU ; Yun XIANG ; Ziyang ZHOU ; Dahua WU ; Chang LEI ; Hongqing ZHAO ; Yuhong WANG ; Xiuli ZHANG
Chinese Journal of Experimental Traditional Medical Formulae 2025;31(11):145-154
ObjectiveTo investigate the mechanism by which 2,3,5,4'-tetrahydroxyldiphenylethylene-2-O-glucoside (THSG) mitigates cerebral ischemia/reperfusion (CI/R) injury by regulating mitochondrial calcium overload and promoting mitophagy. MethodsSixty male SD rats were randomized into sham, model, SAS (40 mg·kg-1), and low-, medium- and high-dose (10, 20, 40 mg·kg-1, respectively) THSG groups, with 10 rats in each group. The middle cerebral artery occlusion/reperfusion (MCAO/R) model was established by the modified Longa suture method. An oxygen-glucose deprivation/reoxygenation (OGD/R) model was constructed in PC12 cells. Neurological deficits were assessed via Zea Longa scoring, and cerebral infarct volume was measured by 2,3,5-triphenyltetrazolium chloride (TTC) staining. Structural and functional changes of cortical neurons in MCAO/R rats were assessed by hematoxylin-eosin and Nissl staining. PC12 cell viability was detected by cell counting kit-8 (CCK-8) assay, and mitochondrial calcium levels were quantified by Rhod-2 AM. Immunofluorescence was used to detect co-localization of PTEN-induced kinase 1 (PINK1) and leucine zipper/EF-hand-containing transmembrane protein 1 (LETM1) in neurons. Transmission electron microscopy (TEM) was employed to observe mitochondrial morphology in neurons. Western blot was employed to analyze the expression of translocase of outer mitochondrial membrane 20 (TOMM20), autophagy-associated protein p62, microtubule-associated protein light chain 3 (LC3), cysteinyl aspartate-specific proteinase-9 (Caspase-9), B-cell lymphoma 2-associated protein X (Bax), and cytochrome C (Cyt C). ResultsCompared with the sham group, the model group exhibited increased infarct volume (P<0.01) and neurological deficit scores (P<0.01), neuronal structure was disrupted with reduced Nissl bodies. (P<0.01), mitochondrial swelling/fragmentation, decreased PINK1/LETM1 co-localization (P<0.01), upregulated protein levels of LC3Ⅱ/LC3Ⅰ, TOMM20, Caspase-9, Bax, and Cyt C (P<0.01), downregulated protein level of p62 (P<0.05), weakened PC12 viability (P<0.01), and elevated mitochondrial calcium level (P<0.01). Compared with the model group, THSG and SAS groups showed reduced infarct volumes (P<0.05,P<0.01) and neurological deficit scores (P<0.05,P<0.01), mitigated mitochondrial damage, and increased PINK1/LETM1 co-localization (P<0.01). Medium/high-dose THSG and SAS alleviated the neurological damage, increased Nissl bodies (P<0.05,P<0.01), downregulated the protein levels of p62, TOMM20, Caspase-9, Bax, and Cyt C (P<0.05,P<0.01), and elevated the LC3Ⅱ/LC3Ⅰ level (P<0.05,P<0.01). High-dose THSG enhanced PC12 cell viability (P<0.01), increased PINK1/LETM1 co-localization (P<0.01), and reduced mitochondrial calcium (P<0.01). ConclusionTHSG may exert the neuroprotective effect on CI/R injury by activating the PINK1-LETM1 signaling pathway, reducing the mitochondrial calcium overload, and promoting mitophagy.
7.2,3,5,4′-tetrahydroxyldiphenylethylene-2-O-glucoside Attenuates Cerebral Ischemia-reperfusion Injury via PINK1/LETM1 Signaling Pathway
Hongyu ZENG ; Kaimei TAN ; Feng QIU ; Yun XIANG ; Ziyang ZHOU ; Dahua WU ; Chang LEI ; Hongqing ZHAO ; Yuhong WANG ; Xiuli ZHANG
Chinese Journal of Experimental Traditional Medical Formulae 2025;31(11):145-154
ObjectiveTo investigate the mechanism by which 2,3,5,4'-tetrahydroxyldiphenylethylene-2-O-glucoside (THSG) mitigates cerebral ischemia/reperfusion (CI/R) injury by regulating mitochondrial calcium overload and promoting mitophagy. MethodsSixty male SD rats were randomized into sham, model, SAS (40 mg·kg-1), and low-, medium- and high-dose (10, 20, 40 mg·kg-1, respectively) THSG groups, with 10 rats in each group. The middle cerebral artery occlusion/reperfusion (MCAO/R) model was established by the modified Longa suture method. An oxygen-glucose deprivation/reoxygenation (OGD/R) model was constructed in PC12 cells. Neurological deficits were assessed via Zea Longa scoring, and cerebral infarct volume was measured by 2,3,5-triphenyltetrazolium chloride (TTC) staining. Structural and functional changes of cortical neurons in MCAO/R rats were assessed by hematoxylin-eosin and Nissl staining. PC12 cell viability was detected by cell counting kit-8 (CCK-8) assay, and mitochondrial calcium levels were quantified by Rhod-2 AM. Immunofluorescence was used to detect co-localization of PTEN-induced kinase 1 (PINK1) and leucine zipper/EF-hand-containing transmembrane protein 1 (LETM1) in neurons. Transmission electron microscopy (TEM) was employed to observe mitochondrial morphology in neurons. Western blot was employed to analyze the expression of translocase of outer mitochondrial membrane 20 (TOMM20), autophagy-associated protein p62, microtubule-associated protein light chain 3 (LC3), cysteinyl aspartate-specific proteinase-9 (Caspase-9), B-cell lymphoma 2-associated protein X (Bax), and cytochrome C (Cyt C). ResultsCompared with the sham group, the model group exhibited increased infarct volume (P<0.01) and neurological deficit scores (P<0.01), neuronal structure was disrupted with reduced Nissl bodies. (P<0.01), mitochondrial swelling/fragmentation, decreased PINK1/LETM1 co-localization (P<0.01), upregulated protein levels of LC3Ⅱ/LC3Ⅰ, TOMM20, Caspase-9, Bax, and Cyt C (P<0.01), downregulated protein level of p62 (P<0.05), weakened PC12 viability (P<0.01), and elevated mitochondrial calcium level (P<0.01). Compared with the model group, THSG and SAS groups showed reduced infarct volumes (P<0.05,P<0.01) and neurological deficit scores (P<0.05,P<0.01), mitigated mitochondrial damage, and increased PINK1/LETM1 co-localization (P<0.01). Medium/high-dose THSG and SAS alleviated the neurological damage, increased Nissl bodies (P<0.05,P<0.01), downregulated the protein levels of p62, TOMM20, Caspase-9, Bax, and Cyt C (P<0.05,P<0.01), and elevated the LC3Ⅱ/LC3Ⅰ level (P<0.05,P<0.01). High-dose THSG enhanced PC12 cell viability (P<0.01), increased PINK1/LETM1 co-localization (P<0.01), and reduced mitochondrial calcium (P<0.01). ConclusionTHSG may exert the neuroprotective effect on CI/R injury by activating the PINK1-LETM1 signaling pathway, reducing the mitochondrial calcium overload, and promoting mitophagy.
8.Clinical efficacy and safety of biological agents in the treatment of moderate-to-severe psoriasis in 124 elderly patients: a retrospective analysis
Lan JIN ; Yun QIU ; Weijia WANG ; Xiaojing KANG ; Yuan DING
Chinese Journal of Dermatology 2025;58(1):47-52
Objective:To retrospectively analyze the clinical efficacy and safety of biological agents in the treatment of psoriasis in the elderly.Methods:A retrospective study was conducted. A total of 124 patients aged ≥ 65 years with moderate-to-severe psoriasis (psoriasis area and severity index [PASI] score ≥ 3 points or body surface area [BSA] ≥ 3%), who were treated with biological agents at the Department of Dermatology and Venereology, People's Hospital of Xinjiang Uygur Autonomous Region, from June 2020 to December 2023, were collected. PASI, BSA, and dermatology life quality index (DLQI) scores were recorded at weeks 0 (pre-treatment), 4, 12, and 24 after the beginning of treatment to evaluate the efficacy. The proportions of patients achieving ≥ 75% and 90% improvements in PASI scores (PASI75 and PASI90, respectively) were calculated, and adverse reactions were recorded. Data were processed using SPSS 29.0 and GraphPad Prism 10.0 software. Normally distributed continuous variables were presented as mean ± standard deviation, while non-normally distributed continuous variables were presented as median with upper and lower quartiles ( Q1, Q3). Wilcoxon signed-rank test was used for comparisons of non-normally distributed data between groups, and chi-square test and Fisher's exact test were used for comparing categorical data. Results:Among the 124 patients, there were 72 males (58.1%) and 52 females (41.9%), and their ages ranged from 65 to 87 years. Treatment regimens included secukinumab for 86 patients (69.4%), ustekinumab for 15 (12.1%), ixekizumab for 14 (11.3%), guselkumab for 5 (4.0%), and adalimumab for 4 patients (3.2%). The pre-treatment PASI, BSA, and DLQI scores [ M ( Q1, Q3) ] were 12.2 (7.8, 19.6) points, 16.0% (10.2%, 25.0%), and 16 (11, 20) points respectively, which significantly decreased to 0.8 (0, 1.2) points, 1.0% (0, 2.0%), and 0 (0, 3) points respectively at week 24 after the start of treatment ( Z = 9.66, 9.66, 9.63, respectively, all P < 0.01). The proportions of patients achieving PASI75 at weeks 4, 12, and 24 were 42.7% (53/124), 80.6% (100/124), and 93.5% (116/124) respectively, and those achieving PASI90 were 13.7% (17/124), 48.4% (60/124), and 85.5% (106/124) respectively. There were no significant differences in the proportions of patients achieving PASI75 and PASI90 between the subgroups with and without comorbidities, as well as between the early-onset psoriasis subgroup and late-onset psoriasis subgroup at weeks 4, 12, and 24 (all P > 0.05). Among the 124 patients, 42 were followed up for over 2 years, and the proportions of patients achieving PASI75 and PASI90 after 2 years of treatment were 71.4% (30 cases) and 54.8% (23 cases), respectively. Adverse reactions occurred in 13 patients, including upper respiratory infections in 4 patients (3.2%), elevated aminotransferase levels in 3 patients (2.4%), eczematoid dermatitis in 2 patients (1.6%), pruritus in 2 patients (1.6%), nodular prurigo in 1 patient (0.1%), and vitiligo in 1 patient (0.1%) . Conclusion:Biological agents showed rapid and marked efficacy in the treatment of moderate-to-severe psoriasis in the elderly, with few and mild adverse reactions, suggesting high safety and overall marked efficacy.
9.Guided by National Strategic Needs,Striving to Build a First-Class Forensic Medicine Discipline—The Construction Plan for Forensic Medicine at Southern Medical University
Dong-Fang QIAO ; Ping-Ming QIU ; Qi WANG ; Yun-Chun TAI ; Dong-Ri LI ; Jing-Tao XU ; Qi-Zhi LUO ; En-Ping HUANG ; Bo-Feng ZHU
Journal of Forensic Medicine 2025;41(1):15-19
The 2024 National Education Work Conference pointed out that at the current juncture of the critical period for achieving the goals and tasks of the 14th Five-Year Plan,the implementation of the Education Powerhouse Construction Plan Outline should be taken as the main line of work,and building first-class disciplines is an crucial task for a higher education powerhouse.In 2022,forensic medicine was officially listed as a first-level discipline under the medical category,presenting an un-precedented historical opportunity for the development of forensic medicine.The forensic medicine dis-cipline of Southern Medical University comprehensively improves the quality of talent cultivation and facilitates the construction of first-class disciplines as its main direction.It aims to initiate and imple-ment a high-level faculty team building plan featuring"combining recruitment and cultivation,inter-disciplinary integration";make vigorous efforts to establish a first-level doctoral program,refine advan-tageous second-level disciplines and research directions;and establish an innovative research platform from a high starting point with deep integration.The discipline adheres to moral cultivation and the Five Domains of Education simultaneous development,to build a high-quality talent joint training model.Guided by the construction of the national legal system and industry needs,the discipline will enhance social service capabilities.The forensic medicine construction in our university will continue to contribute to the rule of law in China and educational power.
10.Clinical and genetic characteristics of late-onset facioscapulohumeral muscular dystrophy type 1
Fuze ZHENG ; Xinyue CHEN ; Meng YU ; Liangliang QIU ; Minghui ZENG ; Yuhua LIN ; Feng LIN ; Wei ZHANG ; Minting LIN ; Ning WANG ; Yun YUAN ; Zhiqiang WANG ; Zhaoxia WANG
Chinese Journal of Neurology 2025;58(10):1040-1047
Objective:To summarize the clinical and genetic characteristics of late-onset facioscapulohumeral muscular dystrophy type 1 (FSHD1) patients, and to compare the differences between late-onset and classic-onset FSHD1 patients.Methods:A retrospective analysis was conducted on the clinical and genetic data of genetically confirmed late-onset FSHD1 patients (age at onset30 years) between January 2007 and June 2024 from the Department of Neurology of Peking University First Hospital and the First Affiliated Hospital of Fujian Medical University. Classic-onset FSHD1 patients (10 yearsage at onset≤30 years) were matched 1∶1 according to sex and disease duration for comparison. The demographic information, the number of D4Z4 repeat units, the distal D4Z4 methylation levels, FSHD Clinical Score (CS), Clinical Severity Score (CSS), and Age-Corrected Clinical Severity Score (ACSS) of these patients were collected. Survival analysis was performed to compare the outcome of lower extremity involvement between late-onset and classic-onset FSHD1 patients. The correlation of the number of D4Z4 repeat units and D4Z4 methylation level with CS and ACSS was analyzed in late-onset FSHD1 patients.Results:A total of 61 patients with late-onset FSHD1 were enrolled, 33 (54.1%) of whom are female, with an age of 54.0 (46.0, 62.0) years and a disease duration of 14.0 (5.5, 22.5) years. Compared to classic-onset FSHD1 patients, late-onset patients exhibited significantly lower CS [7.0 (5.6, 8.4) vs 6.0 (4.4, 7.7), U=1 416.000, P=0.013], CSS [3.0 (2.8, 3.3) vs 3.0 (2.0, 4.0), U=2 352.000, P=0.010], and ACSS [189.2 (137.1, 241.3) vs 96.8 (61.3, 132.2), U=3 225.500, P0.001], and higher proportion of patients with limb girdle involvement but no facial muscle involvement [18.0% (11/61) vs 6.6% (4/61), χ2=3.725, P=0.054]. Kaplan-Meier survival analysis showed that the onset age of lower extremity involvement in late-onset patients (45 years, 95% CI 42-48 years) was significantly higher than that in classic-onset patients (24 years, 95% CI 21-27 years, χ2=61.012, P0.001). The duration from symptom onset to lower extremity involvement in late-onset patients (15 years, 95% CI 10-20 years) was significantly longer than that in classic-onset patients (8 years, 95% CI 3-13 years, χ2=9.105, P=0.003). Late-onset FSHD1 patients carried higher average distal D4Z4 methylation levels compared to those with classic-onset FSHD1 [46.68% (40.79%,52.57%) vs 41.02% (34.03%,48.00%), U=1 378.500, P=0.014]. Among late-onset FSHD1 patients, cytosine-phosphate-guanine 6 (CpG6) methylation levels were significantly negatively correlated with ACSS ( r=-0.278, P=0.025); the number of D4Z4 repeat units were significantly negatively correlated with ACSS ( r=-0.272, P=0.034);CpG6 methylation levels were significantly negatively correlated with CS ( r=-0.441, P=0.003), while no correlation was found between number of D4Z4 repeat units and CS ( r=-0.161, P=0.310). Conclusions:Compared with classic-onset FSHD1 patients, late-onset FSHD1 patients are associated with a higher degree of distal D4Z4 methylation, along with a milder muscle weakness phenotype, slower disease progression and a higher proportion of cases without facial muscle involvement. The age at onset can be used as a marker of the severity and prognosis in FSHD1.

Result Analysis
Print
Save
E-mail