Primary biliary cholangitis （PBC） is an autoimmune liver disease characterized by intrahepatic cholestasis， while fatigue is a common symptom of PBC that significantly affects the quality of life of patients. The pathogenesis of fatigue is complex and may be associated with the factors such as cholestasis-induced inflammation， gut microbiota dysbiosis， brain structural and functional abnormalities， and mitochondrial dysfunction. At present， first-line therapies and liver transplantation have a limited effect in alleviating fatigue， and there is still a lack of standardized comprehensive assessment system. Emerging drugs and non-pharmaceutical interventions， including lifestyle modifications， have shown potential application prospects. This article systematically reviews the research advances in the clinical manifestations， pathogenesis， clinical assessment， and intervention of fatigue in PBC patients， in order to provide a reference for optimizing treatment strategies and promoting the research and development of new therapies.

Objective To assess the clinical value of a novel surgical technique—Tubeless subxiphoid uniportal video-assisted thoracoscopic surgery with percutaneous suspension technique via balance-shaped sternal elevation device in the resection of anterior mediastinal masses. Methods Patients who underwent tubeless subxiphoid uniportal video-assisted thoracoscopic surgery via balance-shaped sternal elevation device in anterior mediastinal masses process at the Department of Thoracic Surgery, West China Hospital, Sichuan University from March to April 2025 were included, and their clinical data were analyzed. Results A total of 4 patients were included, with 2 males and 2 females, aged 58-75 years. The diameter of the tumor was 2.5-3.0 cm. The operation time was 60.0-150.0 min, intraoperative blood loss was 5-10 mL, pain score on the 3rd day after surgery was 0 points, and postoperative hospital stay was 2-3 days. All patients achieved complete resection of the masses and thymus without perioperative complications. Conclusion The tubeless subxiphoid uniportal video-assisted thoracoscopic surgery with percutaneous suspension technique via balance-shaped sternal elevation device technique optimizes surgical visualization and instrument maneuverability while avoiding complications related to conventional anesthesia and tubing, thereby markedly enhancing the minimally invasive profile of anterior mediastinal masses resections. In addition to maintaining procedural safety, this approach effectively reduces postoperative pain and accelerates patient recovery, highlighting its potential for widespread clinical adoption.

OBJECTIVE: To explore the clinical phenotype and genetic characteristics of a child with Progressive familial intrahepatic cholestasis type 8 (PFIC8). METHODS A child with PFIC diagnosed at Beijing Children's Hospital Affiliated to Capital Medical University in September 2025 was selected as the study subject. Peripheral venous blood samples were collected from the child and her parents. Following extraction of genomic DNA, whole-exome sequencing (WES) was carried out. Candidate variants were validated by Sanger sequencing. The pathogenicity of the candidate variants was classified based on the guidelines from American College of Medical Genetics and Genomics (ACMG). This study was approved by the Medical Ethics Committee of Beijing Children's Hospital Affiliated to Capital Medical University (Ethics No.: 2023-E-126-Y). RESULTS: The proband, a 2-month-old female infant, had manifested jaundice of the skin and sclera, and slightly distended abdomen. She had no visible abdominal wall varicose veins, soft abdomen, and no palpable masses. Biliary atresia was ruled out by intraoperative cholangiography. WES revealed that she has harbored compound heterozygous variants of KIF12 gene, namely c.809C>T (p.Ala270Val) and c.1313G>A (p.Arg438Lys), which were verified by Sanger sequencing to have derived from her mother and father, respectively. According to the ACMG guidelines, both variants were classified as variants of uncertain significance (VUS). Based on the pre-defined search strategy, 10 articles were retrieved, which involved 25 PFIC cases, including 5 from China. Together with the proband of this study, the 26 PFIC patients have primarily presented with high GGT cholestasis, with the genetic cause in all cases attributed to variants of the KIF12 gene. CONCLUSION The c.809C>T and c.1313G>A compound heterozygous variants of the KIF12 gene probably underlay the pathogenesis of cholestatic liver disease in this child. Above findings have enriched the mutational and phenotypic spectra of PFIC8.
Humans ; Kinesins/genetics* ; Female ; Cholestasis, Intrahepatic/genetics* ; Infant ; Heterozygote ; Mutation ; Exome Sequencing ; Male

Objective To analyze the expression levels of miR-27a-3p mRNA and Yes-associated protein 1(YAP1)mRNA in breast cancer,and to explore their relationships with clinicopathological features and the survival prognosis of patients.Methods A total of 130 breast cancer patients who underwent mastectomy in our hospital between January 2019 and January 2021 were enrolled.The expression levels of miR-27a-3p and YAP1 mRNA in breast tumor tissues and adjacent normal breast tissues were assessed by qRT-PCR.Furthermore,the relationships between their expression and clinicopathological features,as well as the survival prognosis of patients,were investigated.Results Compared with adjacent normal breast tissues,the expression of miR-27a-3p mRNA in breast tumor tissues was lower(P＜0.05),while that of YAP1 mRNA was higher(P＜0.05).A negative correlation was observed between the expression of miR-27a-3p mRNA and YAP1 mRNA in breast tumor tissues(r=-0.456,P＜0.05).The expression of miR-27a-3p mRNA was correlated with tumor diameter,histological grade,tumor staging by the TNM system,lymph node metastasis,and vascular invasion in patients with breast cancer(P＜0.05).The YAP1 mRNA expression was correlated with histological grade,tumor staging by the TNM system,lymph node metastasis,and vascular invasion(P＜0.05).Kaplan-Meier survival analysis revealed that the 3-year overall survival rate of the miR-27a-3p low-expression group was 71.60％(48/67),which was lower than the 91.50％(54/59)of the miR-27a-3p high-expression group(log-rank x2=8.211,P=0.004).The 3-year overall survival rate of the YAP1 high-expression group was 73.80％(45/61),lower than that of the YAP1 low-expression group(87.70％,57/65)(log-rank x2=4.429,P=0.035).Multivariate regression analysis indicated that lymph node metastasis(hazard ratio[HR]=1.409;95％CI,1.057-1.644;P=0.046),vascular invasion(HR=1.541;95％CI,1.076-1.869;P=0.045),low miR-27a-3p mRNA expression(HR=0.593;95％CI,0.388-0.925;P=0.018),and high YAP1 mRNA expression(HR=0.628;95％CI,0.405-0.912;P=0.022)were relevant factors affecting the 3-year overall survival of patients with breast cancer.Conclusion A significant downregulation of miR-27a-3p mRNA and upregulation of YAP1 mRNA are observed in breast tumor tissues.The low expression of miR-27a-3p mRNA and the high expression of YAP1 mRNA are associated with adverse clinicopathological features and poor survival prognosis,and are risk factors affecting the 3-year overall survival of patients with breast cancer.They show promise as new potential therapeutic targets for breast cancer.

BACKGROUND: The STAR (Scientific, Transparent, and Applicable Rankings) working group conducts regular evaluations of Chinese guidelines and consensus statements. This study gathered insights from STAR working group members using qualitative interviews. METHODS: From March to August 2023, members of the STAR specialist committees were interviewed using semi-structured interview outline. The interviewees were selected through purpose-based sampling. Subject analysis was employed to summarize the findings. RESULTS: We conducted interviews with 37 members from 36 committees and summarized the contents into four main themes and 16 specific topics. The value of STAR in enhancing the development and selection of high-quality guidelines in China was commonly mentioned. Challenges identified included the lack of resources and suboptimal organizational structures, collaboration, and evaluation efficiency. Suggestions for the STAR tool included developing extensions for different guideline types, adjusting certain items, and better covering guideline applicability. The promotion of STAR and the consideration of an international committee for global outreach were also highlighted. CONCLUSION STAR has exerted a substantial influence on the evaluation of Chinese guidelines, and the insights gained from interviews offer valuable directions for its further enhancement.
Humans ; China ; Qualitative Research ; Practice Guidelines as Topic ; Interviews as Topic

Objective To investigate the occurrence of dysphagia in patients with congenital esophageal atre-sia(EA)after surgery and study the associated risk factors.Methods A retrospective analysis was conducted on clinical data of 103 children who underwent surgery for congenital EA at Beijing Children's Hospital,Capital Medi-cal University,from July 2016 to August 2023.Results A total of 103 eligible cases of congenital EA were includ-ed in this study,among which 74 cases experienced dysphagia,with an incidence rate of 71.8％.Single-factor anal-ysis revealed that primary surgery(x2=4.017,P=0.045),endoscopic surgery(x2=8.315,P=0.004),long-seg-ment defects(x2=10.975,P＜0.001),gastroesophageal reflux(x2=16.973,P＜0.001),vocal cord paralysis(x2=4.017,P=0.045),tracheomalacia(x2=5.778,P=0.016),and arytenoid movement disorder(x2=10.420,P=0.001)were significantly associated with postoperative dysphagia.Further binary logistic regression analysis indi-cated that endoscopic surgery(OR=24.373,P=0.016),tracheomalacia(OR=17.556,P=0.010),and anasto-motic stenosis(OR=20.453,P=0.032)were independent risk factors for increased incidence of postoperative dys-phagia.Moreover,stratified analysis of dysphagia duration using unordered multinomial logistic regression revealed that tracheomalacia(OR=16.883,P=0.007;OR=4.337,P=0.045),long-segment defects(OR=0.040,P=0.049;OR=0.040,P=0.036),and arytenoid movement disorder(OR=0.127,P=0.039;OR=0.510,P=0.028)were closely associated with dysphagia duration.Conclusion Dysphagia is a common symptom in children with congenital EA after surgery across all age groups.Endoscopic surgery,long-segment defects,tracheomalacia,and anastomotic stenosis are independent factors contributing to postoperative dysphagia.Additionally,tracheoma-lacia,long-segment defects,and arytenoid movement disorder are closely related to the duration of dysphagia.

Objective To investigate the occurrence of dysphagia in patients with congenital esophageal atre-sia(EA)after surgery and study the associated risk factors.Methods A retrospective analysis was conducted on clinical data of 103 children who underwent surgery for congenital EA at Beijing Children's Hospital,Capital Medi-cal University,from July 2016 to August 2023.Results A total of 103 eligible cases of congenital EA were includ-ed in this study,among which 74 cases experienced dysphagia,with an incidence rate of 71.8％.Single-factor anal-ysis revealed that primary surgery(x2=4.017,P=0.045),endoscopic surgery(x2=8.315,P=0.004),long-seg-ment defects(x2=10.975,P＜0.001),gastroesophageal reflux(x2=16.973,P＜0.001),vocal cord paralysis(x2=4.017,P=0.045),tracheomalacia(x2=5.778,P=0.016),and arytenoid movement disorder(x2=10.420,P=0.001)were significantly associated with postoperative dysphagia.Further binary logistic regression analysis indi-cated that endoscopic surgery(OR=24.373,P=0.016),tracheomalacia(OR=17.556,P=0.010),and anasto-motic stenosis(OR=20.453,P=0.032)were independent risk factors for increased incidence of postoperative dys-phagia.Moreover,stratified analysis of dysphagia duration using unordered multinomial logistic regression revealed that tracheomalacia(OR=16.883,P=0.007;OR=4.337,P=0.045),long-segment defects(OR=0.040,P=0.049;OR=0.040,P=0.036),and arytenoid movement disorder(OR=0.127,P=0.039;OR=0.510,P=0.028)were closely associated with dysphagia duration.Conclusion Dysphagia is a common symptom in children with congenital EA after surgery across all age groups.Endoscopic surgery,long-segment defects,tracheomalacia,and anastomotic stenosis are independent factors contributing to postoperative dysphagia.Additionally,tracheoma-lacia,long-segment defects,and arytenoid movement disorder are closely related to the duration of dysphagia.

Objective To explore the clinical features,imaging and pathological characteristics of the patients with congenital liver fibrosis(CHF).Methods The medical case data of 6 patients with pathological-ly diagnosed CHF in this hospital from January 2011 to June 2021 were retrospectively analyzed,and the clini-cal menifastations,laboratory indicators,imaging characteristics,pathological manifestations,treatment and outcomes were summarized.Results The clinical classification in 6 cases of CHF was mainly portal hyperten-sion(66.67％),and the most common clinical manifestations and signs were hepatosplenomegaly(83.33％),melena(50.00％)and abdominal distension(33.33％).Total bil irubin was normal,and only 2 cases(33.33％)were mildly elevated.The prothrombin time was in the normal range in 4 cases(66.67％),and mild abnormality in 2 cases(33.33％).Imaging showed abnormal liver morphology in 6 cases,spleen enlarge-ment in 5 cases(83.33％),portal vein widening in 3 cases(50.00％),diffuse dilatation of intrahepatic bile ducts in 2 cases(33.33％),and complicating Caroli disease in 1 case(16.67％).The pathological manifesta-tions were normal liver parenchymal cells,periportal fibrosis,and manifold-manifold bridging-like fibrosis.Six cases received the conventional liver protection therapy,3 cases underwent splenectomy+pericardia vascular dissection,the median follow-up time was 68.2 months,1 case died due to liver failure,and 5 cases were rela-tively stable.Conclusion The patients with hepatic disease whose portal hypertension is inconsistent to the degree of hepatic function damage,especially those complicating polycystic kidney disease should perfect the liver puncture pathological examination and genetic testing to clarify the diagnosis,and conduct the genetic counseling and intervention treatment as soon as possible.

BACKGROUND: This study aimed to develop a comprehensive instrument for evaluating and ranking clinical practice guidelines, named Scientific, Transparent and Applicable Rankings tool (STAR), and test its reliability, validity, and usability. METHODS: This study set up a multidisciplinary working group including guideline methodologists, statisticians, journal editors, clinicians, and other experts. Scoping review, Delphi methods, and hierarchical analysis were used to develop the STAR tool. We evaluated the instrument's intrinsic and interrater reliability, content and criterion validity, and usability. RESULTS: STAR contained 39 items grouped into 11 domains. The mean intrinsic reliability of the domains, indicated by Cronbach's α coefficient, was 0.588 (95% confidence interval [CI]: 0.414, 0.762). Interrater reliability as assessed with Cohen's kappa coefficient was 0.774 (95% CI: 0.740, 0.807) for methodological evaluators and 0.618 (95% CI: 0.587, 0.648) for clinical evaluators. The overall content validity index was 0.905. Pearson's r correlation for criterion validity was 0.885 (95% CI: 0.804, 0.932). The mean usability score of the items was 4.6 and the median time spent to evaluate each guideline was 20 min. CONCLUSION The instrument performed well in terms of reliability, validity, and efficiency, and can be used for comprehensively evaluating and ranking guidelines.
Reproducibility of Results ; Surveys and Questionnaires ; Practice Guidelines as Topic ; Humans

Glucose transporter 1(GLUT1)overexpression in tumor cells is a potential target for drug therapy,but few studies have reported screening GLUT1 inhibitors from natural or synthetic compounds.With cur-rent analysis techniques,it is difficult to accurately monitor the GLUT1 inhibitory effect of drug molecules in real-time.We developed a cell membrane-based glucose sensor(CMGS)that integrated a hydrogel electrode with tumor cell membranes to monitor GLUT1 transmembrane transport and screen for GLUT1 inhibitors in traditional Chinese medicines(TCMs).CMGS is compatible with cell membranes of various origins,including different types of tumors and cell lines with GLUT1 expression knocked down by small interfering RNA or small molecules.Based on CMGS continuous monitoring technique,we inves-tigated the glucose transport kinetics of cell membranes with varying levels of GLUT1 expression.We used CMGS to determine the GLUT1-inhibitory effects of drug monomers with similar structures from Scutellaria baicalensis and catechins families.Results were consistent with those of the cellular glucose uptake test and molecular-docking simulation.CMGS could accurately screen drug molecules in TCMs that inhibit GLUT1,providing a new strategy for studying transmembrane protein-receptor interactions.