1.LncRNA SFTA1P modulates the miR - 182 - 5p / FN1 pathway to promote the proliferation and migration of clear cell renal carcinoma cells
Wei Xiang ; Lei Lv ; Fuxin Zheng ; Jingdong Yuan
Acta Universitatis Medicinalis Anhui 2025;60(1):41-48
Abstract:
To explore the molecular mechanism by which long non-coding RNA Surfactant Associated 1 Pseudogene(SFTA1P) promotes the proliferation and migration of clear cell renal cell carcinoma(ccRCC) cells by regulating the microRNA-182-5p(miR-182-5p)/fibronectin 1(FN1) pathway.
Methods:
GEPIA2 software was utilized to analyze the expression ofSFTA1Pin ccRCC tissues from the TCGA database. Quantitative real-time PCR(qPCR) was employed to detect the expression ofSFTA1Pin ccRCC tissues, normal kidney tissues and ccRCC cell lines. A subcellular localization experiment was performed to explore the localization ofSFTA1Pwithin the human renal cell adenocarcinoma cell line(ACHN) derived from ccRCC. ACHN cells were then divided into the following groups: si-Con group, si-SFTA1P #2 group, mimic NC group, miR-182-5p mimic group, anti-miR-Con group, anti-miR-182-5p group, anti-miR-182-5p+si-FN1 group, si-Con+anti-miR-Con group, si-SFTA1P #2+anti-miR-Con group, and si-SFTA1P #2+anti-miR-182-5p group. CCK-8 and Transwell chamber experiments were conducted to assess cell proliferation and migration abilities. qPCR, Western blot, and dual-luciferase reporter assays were employed to elucidate the regulatory interactions amongSFTA1P,miR-182-5p, andFN1.
Results:
Analysis of The Cancer Genome Atlas(TCGA) database indicated thatSFTA1Pwas overexpressed in ccRCC tissues(P<0.05). When compared to normal kidney tissues,SFTA1Pexpression was markedly elevated in ccRCC tissues(P<0.01). Furthermore, the expression levels ofSFTA1Pin ccRCC cell lines 786-O, SN12-PM6, ACHN, and A498 were significantly higher than those in human renal proximal tubule cells(HK-2)(allP<0.01). Subcellular localization experiments revealed thatSFTA1Ppredominantly localized in the cytoplasm of ACHN cells. Compared to the si-Con group, the si-SFTA1P #2 group exhibited a significant reduction in proliferation and migration abilities of ACHN cells, accompanied by a decrease inFN1mRNA and protein expression(P<0.05). Compared to the mimic NC group, the expression ofFN1mRNA and protein in ACHN cells in the miR-182-5p mimic group reduced(P<0.01). In comparison to the anti-miR-Con group, the expression levels ofFN1mRNA and protein in ACHN cells were significantly elevated in the anti-miR-182-5p group. Additionally, there was a significant enhancement in both cell proliferation and migration capabilities(P<0.05). Conversely, the proliferation and migration abilities of ACHN cells in the anti-miR-182-5p+si-FN1 group were significantly reduced compared to the anti-miR-182-5p group(P<0.05). Furthermore, relative to the si-SFTA1P #2+anti-miR-Con group, the ACHN cells in the si-SFTA1P #2+anti-miR-182-5p group demonstrated increased proliferation and migration abilities, along with elevatedFN1mRNA and protein expression levels(P<0.05).
Conclusion
SFTA1Pexhibits elevated expression levels in ccRCC and facilitates the proliferation and migration of ccRCC cells through the modulation of themiR-182-5p/FN1signaling pathway.
2.Combined anterior and posterior miniscrews increase apical root resorption of maxillary incisors in protrusion and premolar extraction cases
Zhizun WANG ; Li MEI ; Zhenxing TANG ; Dong WU ; Yue ZHOU ; Ehab A. ABDULGHANI ; Yuan LI ; Wei ZHENG ; Yu LI
The Korean Journal of Orthodontics 2025;55(1):26-36
Objective:
Miniscrews are commonly utilized as temporary anchorage devices (TADs) in cases of maxillary protrusion and premolar extraction. This study aimed to investigate the effects and potential side effects of two conventional miniscrew configurations on the maxillary incisors.
Methods:
Eighty-two adult patients with maxillary dentoalveolar protrusion who had undergone bilateral first premolar extraction were retrospectively divided into three groups: non-TAD, two posterior miniscrews only (P-TADs), and two anterior and two posterior miniscrews combined (AP-TADs). Cone-beam computed tomography was used to evaluate the maxillary central incisors (U1).
Results:
The APTADs group had significantly greater U1 intrusion (1.99 ± 2.37 mm, n = 50) and less retroclination (1.70° ± 8.80°) compared to the P-TADs (–0.07 ± 1.65 mm and 9.45° ± 10.68°, n = 60) and non-TAD group (0.30 ± 1.61 mm and 1.91° ± 9.39°, n = 54).However, the AP-TADs group suffered from significantly greater apical root resorption (ARR) of U1 (2.69 ± 1.38 mm) than the P-TADs (1.63 ± 1.46 mm) and non-TAD group (0.89 ± 0.97 mm). Notably, the incidence of grade IV ARR was 16.6% in the AP-TADs group, significantly higher than the rates observed in the P-TADs (6.7%) and non-TAD (1.9%) groups. Multiple regression analysis revealed that after excluding tooth movement factors, the AP-TADs configuration resulted in an additional 0.5 mm of ARR compared with the P-TADs group.
Conclusions
In cases of maxillary protrusion and premolar extraction, the use of combined anterior and posterior miniscrews enhances incisor intrusion and minimizes torque loss of the maxillary incisors. However, this approach results in more severe ARR, likely due to the increased apical movement and composite force exerted.
3.Investigation of attention deficit hyperactivity disorder and subthreshold states among children in Chongqing
Xiuying YANG ; Zhanming SHI ; Yi LI ; Jiasheng LIU ; Dengguo CHENG ; Tingting HE ; Wei ZHAO ; Gang YUAN ; Ludan ZHANG ; Chunni HUANG ; Junhao LUAN ; Xiaoyue JIA ; Tiantian CHEN ; Mei WANG ; Shiping ZHENG ; Chunying WU ; Yuanming REN ; Mengfei LI
Sichuan Mental Health 2025;38(6):561-567
BackgroundAttention deficit hyperactivity disorder (ADHD) is a neurodevelopmental disorder characterized by age-inappropriate inattention, excessive activities incongruous with setting, and emotional impulsivity. Subthreshold ADHD (sADHD) is clinically defined as the presence of ADHD symptoms that do not meet the full diagnostic criteria for ADHD. Children with sADHD exhibit deficits in executive function, demonstrate more conduct, learning, and anxiety-related problems compared to typically developing children, and show even poorer working memory performance than children diagnosed with ADHD. Currently, there is limited epidemiological research on sADHD in China, with few studies simultaneously investigating the prevalence of both ADHD and sADHD in children. ObjectiveTo investigate the prevalence of ADHD and sADHD among children aged 6–13 years in Chongqing, analyzing their distribution characteristics within this population, with the aim of providing references for developing preventive measures against both ADHD and sADHD. MethodsFrom October to November 2023, a total of 3 398 students in grades 1–6 from six primary schools in Jiangbei District, Chongqing were selected using a stratified cluster random sampling method. The occurrence of ADHD and sADHD was evaluated by using the short version (18-item version) of the Swanson, Nolan, and Pelham IV rating scales (SNAP-IV) and the Chinese vision of Schedule for Affective Disorder and Schizophrenia for School-aged Children-Present and Lifetime Version (K-SADS-PL). ResultsThe ADHD detection rate among children in Chongqing was 1.90% (95% CI: 0.014–0.024). Boys showed a significantly higher ADHD detection rate than girls (χ2=7.733, P=0.005). No statistically significant differences were found in ADHD detection rates across different grades or age groups (χ2=7.347, 12.362, P>0.05). The sADHD detection rate was 6.32% (95% CI: 0.054–0.072). Similarly, boys exhibited significantly higher sADHD detection rates than girls (χ2=21.005, P<0.01). Significant differences emerged across different grades (χ2=20.559, P=0.001), while no statistically significant difference was observed in age groups (χ2=12.070, P=0.060). ConclusionThe ADHD detection rates were comparable across all grade levels and age groups from 6–13 years old. Second-grade children demonstrated notably higher sADHD rates compared to other grades, while boys demonstrated higher prevalence rates than girls for both ADHD and sADHD. [Funded by Science and Health Joint Medical Research Project in Jiangbei District, Chongqing City in the Second Half of 2023 (number, 2023JBKWLH022)]
4.Targeting AMPK related signaling pathways:A feasible approach for natural herbal medicines to intervene non-alcoholic fatty liver disease
Yongqing CAIA ; Lu FANG ; Fei CHEN ; Peiling ZHONG ; Xiangru ZHENG ; Haiyan XING ; Rongrong FAN ; Lie YUAN ; Wei PENG ; Xiaoli LI
Journal of Pharmaceutical Analysis 2025;15(1):30-63
Non-alcoholic fatty liver disease(NAFLD)is a metabolic disease characterized by abnormal deposition of lipid in hepatocytes.If not intervened in time,NAFLD may develop into liver fibrosis or liver cancer,and ultimately threatening life.NAFLD has complicated etiology and pathogenesis,and there are no effective therapeutic means and specific drugs.Currently,insulin sensitizers,lipid-lowering agents and hep-atoprotective agents are often used for clinical intervention,but these drugs have obvious side effects,and their effectiveness and safety need to be further confirmed.Adenosine monophosphate(AMP)-activated protein kinase(AMPK)plays a central role in maintaining energy homeostasis.Activated AMPK can enhance lipid degradation,alleviate insulin resistance(IR),suppress oxidative stress and inflammatory response,and regulate autophagy,thereby alleviating NAFLD.Natural herbal medicines have received extensive attention recently because of their regulatory effects on AMPK and low side effects.In this article,we reviewed the biologically active natural herbal medicines(such as natural herbal medicine formulas,extracts,polysaccharides,and monomers)that reported in recent years to treat NAFLD via regulating AMPK,which can serve as a foundation for subsequent development of candidate drugs for NAFLD.
5.The mediating role of cognitive flexibility between non-suicidal self-injury and suicide attempts in adolescents with depression
Lijun WANG ; Chengqian JIN ; Wei JIN ; Meizhi ZHENG ; Guanmei ZHAO ; Shiyu SUN ; Yuan LI ; Ke ZHAO
Chinese Journal of Nervous and Mental Diseases 2025;51(5):280-285
Objective This study aims to explore the association between non-suicidal self-injury(NSSI)and suicide attempts(SA)in adolescents and the mediating effect of cognitive flexibility.Methods A total of 218 depression patients with NSSI who met the Diagnostic and Statistical Manual of Mental Disorders,5th Edition(DSM-5)diagnostic criteria for NSSI were enrolled.Patients were divided into SA group(n=105)and non-SA group(n=113)according to the presence or absence of SA in the last one year.The adolescent non-suicidal self-injury assessment questionnaire(ANSAQ)and the Wisconsin card sorting tests(WCST)was used to assess the frequency of NSSI and cognitive flexibility,respectively.A mediation model was constructed to conduct path analysis,and the product distribution method was utilized to test the mediation effect.Results The difference between SA group and non-SA group in NSSI(20.1±10.7 vs.14.7±9.1)and WCST scores[correct responses percentage(67.3%±14.2%vs.72.9%±12.2%),error responses(39.8±20.3 vs.31.6±17.9),perseverative response(6.7±3.8 vs.5.3±2.9),and non-perseverative errors(37.6±21.0 vs.28.9±18.1)]were significant(P<0.05).Dichotomous logistic regression analysis showed that the frequency of NSSI(OR=1.051,95%CI:1.021-1.082)and the score of perseverative response(OR=1.100,95%CI:1.008-1.199)were significantly associated with suicidal behavior among adolescents with NSSI(P<0.05).Moreover,perseverative response partially mediated the association between NSSI and SA(95%CI of Za×Zb:0.0003-0.0168).Conclusion High NSSI and low cognitive flexibility are risk factors for suicide attempts in NSSI adolescents and NSSI may also affect SA indirectly by lowering cognitive flexibility.
6.Preparation and In Vitro Degradation Characteristics Analysis of Poly(lactic-co-glycolide)Microspheres Based on Microfluidic Process
Bao-Cheng WANG ; Cong-Yu MA ; Ke WANG ; Si-Tong ZHENG ; Xiao-Yan ZHANG ; Yue-Mei ZHAO ; Xun ZHAO ; Jian-Bin PAN ; Zheng-Song GAO ; Hai-Wei SHI ; Yao-Zuo YUAN ; Hong-Yuan CHEN
Chinese Journal of Analytical Chemistry 2025;53(4):621-630
Poly(lactic-co-glycolide)(PLGA)is a key excipient in long-acting sustained-release preparations,and its degradation properties directly affect the drug release behavior.In this study,PLGA microspheres were prepared by microfluidic techniques,and the morphology changes of the microspheres were observed by scanning electron microscopy(SEM).In alkaline environment,due to the accelerated hydrolysis of ester bonds,the surface of the microspheres was rapidly dissolved and eroded,and the degradation rate was significantly higher than that in acidic environment.High temperature accelerated the degradation of PLGA microspheres.Under neutral and alkaline conditions,the microspheres showed aggregation and adhesion.Under acidic conditions,the microspheres gradually decomposed into irregular fragments.The high ionic strength further promoted the surface corrosion of the microspheres,especially under extreme pH conditions.Simultaneously,PLGA microspheres encapsulating coumarin were prepared to simulate the microsphere formulation.The release rate of coumarin after degradation of the microspheres under different conditions was observed by measuring the absorbance with ultraviolet-visible spectrophotometry.The results were consistent with those of the blank microspheres.This study revealed that the degradation of PLGA microspheres was significantly pH-dependent,temperature sensitive and ion strength responsive.These findings not only helped to understand and optimize the long-term stability and controlled release performance of drug-carrying microspheres,but also provided a theoretical basis for further improvement of PLGA-based drug carrier design.
7.Construction of Colchicine Molecularly Imprinted Polymer and Its Application in Blood Sample Analysis
Ying ZHANG ; Yuan-Yuan JIANG ; Zheng SUN ; Kai-Han WU ; Juan-Na WEI ; Hui XU
Chinese Journal of Analytical Chemistry 2025;53(10):1741-1750
Molecularly imprinted polymers(MIPs)of colchicine(COL)were prepared by precipitation polymerization with COL as template,methacrylic acid(MAA)as monomer,ethylene glycol dimethacrylate(EGDMA)as crosslinking agent,azobisisobutyronitrile(AIBN)as initiator and chloroform as porogen.The basic structure of the prepared MIPs was characterized by scanning electron microscopy(SEM),transmission electron microscopy(TEM)and Fourier transform infrared(FT-IR)spectrometry,and the adsorption properties of MIPs were evaluated by kinetic adsorption,isothermal adsorption and selective adsorption experiments.The results indicated that the prepared MIPs had uniform particles size,with a maximum adsorption capacity of 62.61 mg/g for COL and an imprinting factor of 3.74,and was suitable for sample pretreatment in determination of COL blood concentration,enabling the enrichment and separation of trace or even ultra-trace target components,thereby improving analytical capabilities.
8.Clinical and pathological features of 52 patients with myofasciitis
Chongzhu FAN ; Qingyue YUAN ; Meng YU ; Yiming ZHENG ; Wei ZHANG ; Zhaoxia WANG ; Yawen ZHAO ; Yun YUAN
Chinese Journal of Neurology 2025;58(12):1259-1267
Objective:To describe the clinical and pathological features of patients with myofasciitis.Methods:The clinical manifestations and auxiliary examination (laboratory, electromyogram, imaging and muscle biopsy) results of 52 patients with myofasciitis diagnosed by pathology at Peking University First Hospital from August 2002 to December 2024 were collected and analyzed.Results:Among the 52 patients (33 males and 19 females), the age of disease onset was (34.4±16.4) years (6.0-73.0 years) and the disease duration was 17.7 (0.3, 120.0) months; the main symptoms included myalgia in the distal limbs (28 cases, 53.8%), diffuse cutaneous or muscle sclerosis (21 cases, 40.4%), muscle weakness (22 cases, 42.3%) and limited joint activity (23 cases, 44.2%); 12 patients (23.1%) were combined with other diseases. All patients had no history of vaccination. Laboratory examinations showed that 80.8% (21/26) of patients had elevated C-reactive protein, 80.0% (20/25) had elevated erythrocyte sedimentation rate, and 26.5% (9/34) had elevated creatine kinase. Among 19 patients undergoing electromyography, 6 cases showed myogenic changes, 4 cases showed neurogenic changes, 1 case showed both myogenic and neurogenic changes, and 8 cases showed no obvious abnormality. Myofascial edema was observed in all 15 patients who underwent muscle magnetic resonance imaging, with partial involvement of adjacent muscles in some cases. According to myopathological changes, the 52 patients were divided into macrophagic myofasciitis in 41 cases (78.8%), lymphocytic myofasciitis in 7 cases (13.5%), and eosinophilic fasciitis in 4 cases (7.7%). Among the 52 patients, fibroblast proliferation in the myofascia was present in 39 cases (75.0%), subfascial muscle fiber atrophy in 28 cases (53.8%), and scattered muscle fiber necrosis and regeneration in 15 cases (28.8%). Major histocompatibility complex class Ⅰexpression on muscle fibers was positive in 89.5% (34/38) of patients, and membrane attack complex deposition on muscle fibers and/or capillary walls was present in 39.5% (15/38) of patients. Among 25 patients with follow-up, all received low-dose oral glucocorticoids, and 7 additionally received methotrexate, intravenous immunoglobulin, or hydroxychloroquine. During follow-up, 22 patients showed clinical improvement, 1 patient remained stable, and 2 patients died.Conclusions:Non-vaccine-associated macrophagic myofasciitis is the most common pathological subtype of myofasciitis. A few patients are concomitant with other diseases. Muscle magnetic resonance imaging is helpful in the diagnosis of the disease. Most patients respond to immunosuppressive treatment.
9.Characteristics of weight gain during pregnancy and its relationship with gestational diabetes mellitus in women with weight loss in early pregnancy
Kaiwen MA ; Wei ZHENG ; Xianxian YUAN ; Puyang ZHANG ; Lili XU ; Guanghui LI
Chinese Journal of Perinatal Medicine 2025;28(1):36-42
Objective:To investigate the characteristics of weight gain in the mid and late pregnancy of women with early pregnancy weight loss, and the relationship between weight gain and weight gain rate before the diagnosis of gestational diabetes mellitus (GDM) and GDM.Methods:A retrospective study was conducted on 2 614 singleton pregnant women who underwent prenatal care and delivered at Beijing Obstetrics and Gynecology Hospital, Capital Medical University, from January 2014 to December 2021, and whose weight decreased compared to pre-pregnancy weight by 16 weeks of gestation. The rate of weight gain in mid and late pregnancy, also weight gain and weight gain rate at each stage were analyzed. Multivariate logistic regression was used to analyze the impact of total weight gain and weight gain rate at each stage before the diagnosis of GDM on the risk of GDM.Results:The rates of weight gain in mid and late pregnancy for women with early pregnancy weight loss who were underweight, normal weight, overweight, and obese before pregnancy were (0.60±0.15), (0.59±0.18), (0.53±0.20), and (0.42±0.20) kg/week, respectively, all higher than the "Chinese Recommended Standards for Weight Gain During Pregnancy" [which are (0.37-0.56), (0.26-0.48), (0.22-0.37), and (0.15-0.30) kg/week, respectively]. The weight gain rates at each stage of mid and late pregnancy in women with early pregnancy weight loss showed a "bimodal" trend, with the first peak in weight gain rate occurring at 16-20 or 20-24 weeks of gestation [weight gain rates for underweight, normal weight, overweight, and obese women before pregnancy were 0.75 kg/week (0.44-1.00 kg/week), 0.74 kg/week (0.50-1.00 kg/week), 0.63 kg/week (0.39-0.86 kg/week), and 0.50 kg/week (0.25-0.74 kg/week), respectively] and the second peak occurring at 28-32 weeks [weight gain rates for underweight, normal weight, overweight, and obese women before pregnancy were 0.63 kg/week (0.50-1.00 kg/week), 0.63 kg/week (0.38- 0.88 kg/week), 0.60 kg/week (0.25-0.88 kg/week), and 0.50 kg/week (0.22-0.75 kg/week). As of 28 weeks and 36 weeks of gestation, 53.7% (1 404/2 614) and 77.4% (1 946/2 512) of pregnant women, respectively, reached the lower limit of the recommended weight gain for the corresponding gestational weeks. No association was found between insufficient weight gain ( aOR=0.828, 95% CI: 0.639-1.071, P=0.151) or excessive weight gain ( aOR=0.936, 95% CI: 0.598-1.465, P=0.773) before the diagnosis of GDM and the risk of GDM. However, obese women with a weight loss greater than 5% of their pre-pregnancy weight in early pregnancy and a rapid weight gain rate (> P 75) between 16-20 weeks of gestation had an increased risk of developing GDM ( aOR=32.870, 95% CI: 1.625-664.775, P=0.023). Conclusions:In clinical practice, dynamic monitoring of weight changes at various stages of pregnancy in women who lose weight in early pregnancy is recommended. Targeted weight management during mid-pregnancy for women who are obese before pregnancy and experience significant weight loss in early pregnancy may help prevent excessive gestational weight gain and decrease the risk of GDM.
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