Objective:To compare the efficacy and safety of adjuvant radiotherapy versus surgery alone in patients with stage pT 2-3N 0M 0 esophageal squamous cell carcinoma after radical resection. Methods:The search was conducted through Web of Science, Emabse, PubMed, Cochrane Library, CNKI, Chongqing VIP, China Biomedical Literature Database, and Wanfang database, etc. The search time was ranged from the establishment of the database to December 2022. Searched studies were screened according to the inclusion and exclusion criteria. Review Manager 5.4 software was used for analysis.Results:Clinical data of 2 424 patients from 8 controlled clinical studies were finally included. Meta-analysis showed that postoperative adjuvant radiotherapy had higher 3-year and 5-year disease-free survival rates ( OR=2.33, 95%CI=1.71-3.17, P<0.001; OR=2.38, 95% CI=1.73-3.27, P<0.001) and 3-year and 5-year overall survival rates ( OR=1.89, 95% CI=1.37-2.60, P<0.01; OR=1.94,95% CI=1.50-2.49, P<0.001) than surgery alone. Meanwhile, the local recurrence rate ( OR=0.33, 95% CI=0.21-0.50, P<0.001) and distant metastasis rate ( OR=0.62, 95% CI=0.39-0.98, P=0.040) of postoperative adjuvant radiotherapy group were lower than those in the surgery alone group. The incidence of radiation esophagitis (1.4%-9.5%), radiation pneumonitis (2.1%) and anastomotic stenosis (5.3%) was reported. Conclusions:For patients with stage pT 2-3N 0M 0 squamous cell carcinoma after radical resection of esophageal cancer, adjuvant radiotherapy may improve 3-year and 5-year disease-free survival rates and 3-year and 5-year overall survival rates compared with surgery alone. In addition, adjuvant radiotherapy may reduce the local recurrence and distant metastasis rates. Therefore, postoperative adjuvant radiotherapy is an optional treatment for stage pT 2-3N 0M 0 esophageal squamous cell carcinoma.

Objective:To summarize the clinical characteristics of children carrying the m.8344A>G variant of MT-TK gene.Methods:A case series study was conducted to retrospectively collect data of 22 children with mitochondrial disease caused by MT-TK gene m.8344A>G variation who were treated at the Department of Neurology of Beijing Children′s Hospital of Capital Medical University from January 2012 to January 2024. Their clinical data, laboratory tests, muscle pathology, genetic testing, and the follow-up results were analyzed. Pearson correlation analysis was used for correlation analysis.Results:Among the 22 children, there were 13 boys and 9 girls. The age of onset was 5.00 (2.75, 9.00) years. Fifteen children had myoclonic epilepsy with ragged-red fibers (MERRF), 3 had Leigh syndrome (LS), and 4 had LS-MERRF overlap syndrome (LS-MERRF). Myoclonus presented and worsened progressively in all 15 MERRF children, with 10 as the initial symptom and 5 developing progressively during the disease course. Myoclonus was predominantly focal, worsening with fine motor tasks or stress. Electroencephalogram monitoring in the 15 MERRF children revealed myoclonic seizures in 10 children, with 6 classified as myoclonic epilepsy, and 4 as subcortical myoclonus. Two children had generalized myoclonic seizures, and 1 each had absence seizures and generalized seizures. Twelve children had cerebellar ataxia, 10 children exhibited exercise intolerance, and 8 children had muscle weakness. Magnetic resonance imaging (MRI) revealed periventricular white matter involvement in 1 child and bilateral hippocampal involvement in 1 child, likely due to frequent seizures. All 3 children with LS exhibited developmental regressions, accompanied with 2 symptoms include cerebellar ataxia, muscle weakness, and dysphagia. The clinical manifestations of 4 LS-MERRF overlap children presented with combined features of MERRF and LS. Cranial MRI in the 7 LS and LS-MERRF children showed brainstem involvement (all affecting the midbrain) in 6 children and basal ganglia involvement in 4 children. Among the 22 children, 12 had m.8344A>G variant levels >90%, 3 had >80%-90%, 4 had >70%-80%, and 3 had >60%-70%. Higher variant level correlated with the LS phenotype and earlier onset age ( r=0.47, -0.50; P=0.018 and 0.029, respectively). Sanger sequencing in 19 mothers revealed m.8344A>G variations in 18, with 4 showing exercise intolerance. Follow-up of 13 children on antimyoclonic treatment showed>75% reduction in seizures with levetiracetam monotherapy in 2 children, with combination therapy required in others. Most achieved >50% seizures reduction within 2 years, but the effectiveness declined with disease progression. Conclusions:The m.8344A>G variant is rare, with MERRF being the most common phenotype, while LS and LS-MERRF are less common. Children with higher ratio of the m.8344A>G variant are more likely to present LS phenotype. Myoclonus, primarily focal, is a key feature, with levetiracetam as the first-line treatment and benzodiazepines recommended for refractory cases.

Objective:To screen differential metabolites and metabolic pathways in urine of adult patients with Kashin-Beck disease (KBD), so as to provide scientific basis for finding specific biomarkers and pathogenesis of KBD.Methods:In Yongshou County, the KBD area in Shaanxi Province, adult KBD patients were selected as the case group, and healthy people without clinical symptoms of KBD were selected as the control group in the same disease area. The subjects' fasting mid-morning urine was collected, and liquid chromatography-mass spectrometry (LC-MS) technology was used to detect small-molecule metabolites in the urine. Multivariate statistical analysis [partial least square discriminant analysis (PLS-DA)] and comparison with KEGG and human metabonomics database (HMDB) were used to identify and screen differential metabolites and metabolic pathways in KBD patients.Results:A total of 58 subjects were included, 39 cases in the case group, including 23 males and 16 females; the age was (61.2 ± 7.8) years old; the body mass index was (22.7 ± 6.5) kg/m 2. There were 19 cases in the control group, including 10 males and 9 females; the age was (50.0 ± 9.0) years old; the body mass index was (24.3 ± 5.5) kg/m 2. Three first-order differential metabolites (HT-2 toxin, T-2 tetraol and seleno-adenosine selenomethionine) were identified and screened, which were highly related to the pathogenesis of KBD, and all were down-regulated. There were 38 second-order differential metabolites, among them, 10 were up-regulated and 28 were down-regulated. Nine differential metabolic pathways were screened, mainly involving amino acid metabolism, lipid metabolism and energy metabolism. Conclusions:The urine metabolism profiles of adult KBD patients and healthy people are significantly different, mainly involving amino acid metabolism, lipid metabolism and energy metabolism. The first-order differential metabolites HT-2 toxin, T-2 tetraol and seleno-adenosine selenomethionine are highly correlated with the pathogenesis of KBD.