OBJECTIVE: To analyze the clinical manifestations and genotype of a child with You-Hoover-Fong syndrome (YHFS) to enhance clinical understanding of this disease. METHODS: Clinical data of a child who visited the Department of Pediatric Neurorehabilitation of the Women's and Children's Hospital Affiliated to Xiamen University in March 2025 for global developmental delay was collected. Peripheral blood samples of the child and his parents were collected for chromosomal microarray analysis and whole exome sequencing (WES). Sanger sequencing was performed for parental validation, and candidate variant was assessed for pathogenicity. Clinical and genetic analyses were conducted based on the child's phenotype. A literature review was performed by retrieving previously reported cases of YHFS due to TELO2 gene variants. This study was approved by the Medical Ethics Committee of the Women's and Children's Hospital Affiliated to Xiamen University (Ethics No.: KY-2023-044-K02). RESULTS: The child was a 1-year-and-2-month-old male presenting with global developmental delay, encephalodysplasia, congenital heart disease and distinctive facial features. WES revealed that the child has harbored compound heterozygous variants of the TELO2 gene, namely c.1826G>A (p.Arg609His) and c.1514_1515delAG (p.Glu505Alafs21). Sanger sequencing confirmed that his mother carried a heterozygous c.1826G>A variant and his father carried a heterozygous c.1514_1515delAG variant. Based on the guidelines from the American College of Medical Genetics and Genomics (ACMG), both variants were classified as likely pathogenic (PM2_Supproting+PM3_Strong+PP1+PP3; PVS1+PM2_Supproting). Literature review has identified 9 articles reporting 31 cases of YHFS due to TELO2 gene variants, with primary clinical manifestations including developmental delay, intellectual disability, distinctive facial features, and congenital heart disease. CONCLUSION The c.1826G>A (p.Arg609His) and c.1514_1515delAG (p.Glu505Alafs*21) compound heterozygous variants of the TELO2 gene probably underlay the pathogenesis of this child. Above finding has provided a basis for the clinical and genetic diagnosis of the child, which also enriched the mutational spectrum of the TELO2 gene, and improved understanding of YHFS.
Humans ; Male ; Infant ; Heterozygote ; Developmental Disabilities/genetics* ; Female ; Exome Sequencing ; Mutation ; Phenotype ; Abnormalities, Multiple/genetics* ; Child, Preschool

Objective:Primary sclerosing cholangitis (PSC) is a rare autoimmune disease. This study aims to describe the baseline characteristics and clinical outcomes of Chinese PSC patients and explore risk factors associated with prognosis, addressing the lack of long-term prognostic analysis in China.Methods:Clinical data of PSC patients were retrospectively collected from May 2009 to June 2023 in Beijing Friendship Hospital Affiliated to Capital Medical University, and patient follow-up was conducted through outpatient visits, telephone calls, and medical record reviews. The Cox proportional hazards model and the Kaplan-Meier method were employed to identify risk factors and estimate transplant-free survival.Results:A total of 65 PSC patients were enrolled, with male patients accounting for 50.8% and an average age of onset of 44 years. The disease types primarily included large duct PSC (57.9%) and whole duct PSC (22.8%). Most patients (78.5%) sought medical attention due to symptoms, with common clinical manifestations including jaundice (32.3%), fatigue (23.1%), abdominal discomfort (21.5%), pruritus (16.9%), and fever (10.8%). A total of 19 patients (29.2%) had concomitant ulcerative colitis. Compared to large duct PSC or whole duct PSC, small duct PSC showed a lower proportion of concomitant ulcerative colitis ( P<0.001) and milder baseline disease severity. After a median follow-up of 29 months (interquartile range: 11,53), 19 patients experienced liver transplantations and/or liver disease-related deaths. The overall 2-year and 5-year transplant-free survival rates for PSC patients were 76.0% and 59.5%, respectively. Elevated bile acid levels were identified as an independent risk factor for poor outcomes in PSC patients. Conclusion:The study population of Chinese PSC patients predominantly consisted of middle-aged males, characterized by a low ratio of asymptomatic cases, a low incidence of associated inflammatory bowel disease, and a low rate of transplant-free survival. Elevated bile acid level was identified as an independent risk factor for poor outcomes in PSC patients.

Primary biliary cholangitis (PBC) is a type of autoimmune liver disease characterized by chronic intrahepatic cholestasis. Although portal hypertension is a common complication in patients with cirrhotic PBC, portal hypertension and its related complications can occur in the early stage of the disease, that is, before the cirrhosis onset. Therefore, early identification and long-term management are of great significance to reduce the occurrence of portal hypertension and decompensation events and improve long-term prognosis in patients with PBC. This paper focuses on the epidemiology, pathophysiological mechanism, clinical characteristics, non-invasive diagnosis, and treatment strategies for portal hypertension in early-stage PBC patients.

Objective:To translate the European organization for research and treatment of cancer quality of life questionnaire-head and neck 43(EORTC QLQ-H&N43) and to conduct cultural debugging and reliability and validity testing for the Chinese version of the scale.Methods:The Chinese version of EORTC QLQ-H&N43 was formed through literal translation, integration, back translation, group discussion, cultural adjustment, and pre-investigation of the English version of the scale. From March 2023 to December 2023, convenience sampling was used to investigate 254 patients with head and neck tumors at the Cancer Hospital of the Chinese Academy of Medical Sciences, including 197 males and 57 females, aged (55.6±13.6) years. SPSS 25.0 statistical software was used to analyze the performance of the scale.Results:The Chinese version of EORTC QLQ-H&N43 retained all 43 items. After evaluation by 5 experts, the content validity index (I-CVI) at the item level of the scale ranged from 0.80 to 1.00, and the average content validity index (S-CVI/Ave) at the scale level was 0.991. Through exploratory factor analysis, a total of 9 common factors were extracted, with a cumulative variance contribution rate of 68.158%; Cronbach′s α coefficient of the total scale was 0.943, and the half reliability was 0.896.Conclusion:The Chinese version of EORTC QLQ-H&N43 has good reliability and validity, which can be used as an effective tool to evaluate the quality of life of head and neck cancer patients in China.

Objective:To develop the Nurse Parenting Stress Scale and evaluate its reliability and validity.Methods:Based on Abidin's Parenting Stress Theory, scale items were generated through literature review and semi-structured interviews. The initial version was constructed via Delphi expert consultation. Using a convenience sampling method, nurses from six hospitals in Shandong Province were surveyed between August and October 2024. The first survey collected 314 questionnaires (308 valid, effective recovery rate 98.1%) for item analysis and exploratory factor analysis (EFA). The second survey collected 458 questionnaires (447 valid, effective recovery rate 97.6%) for confirmatory factor analysis (CFA) .Results:The Nurse Parenting Stress Scale consists of 4 dimensions and 31 items. The Cronbach's α coefficient of the total scale was 0.951, split-half reliability was 0.782, and test-retest reliability was 0.926. EFA extracted four common factors explaining 70.241% of the cumulative variance. CFA demonstrated a good model fit. The item-level content validity index ( I- CVI) ranged from 0.889 to 1.000, the scale-level universal agreement content validity index ( S- CVI/ UA) was 0.903, and the scale-level average content validity index ( S- CVI/ Ave) was 0.989. Conclusions:The Nurse Parenting Stress Scale shows strong reliability and validity and can serve as an effective tool for assessing parenting stress among nurses.

Background and Aims:Mucinous adenocarcinoma of the colorectum(MAC)is a distinct histologic subtype of colorectal cancer characterized by high malignancy and low diagnostic accuracy of preoperative biopsy,posing challenges for clinical decision-making.Given the critical role of the inflammatory microenvironment in tumor progression,this study aimed to develop and validate a nomogram model integrating preoperative systemic inflammatory indicators and clinical features to improve the preoperative diagnosis of MAC.Methods:Clinical data of 293 patients with colorectal cancer who underwent radical resection between June 2017 and June 2022 at the First Affiliated Hospital of the University of South China were retrospectively analyzed.Based on postoperative pathology,patients were classified into the mucinous adenocarcinoma(MAC)group and the non-specific adenocarcinoma(AC)group.Propensity score matching(PSM,1∶1)was used to balance age,T stage,and N stage.Differences in preoperative inflammatory indices were compared between groups.Univariate and multivariate logistic regression analyses were performed to identify independent predictors of MAC,which were incorporated into a diagnostic nomogram.The model's discrimination,calibration,and clinical utility were evaluated using the area under the receiver operating characteristic curve(AUC),calibration plots,and decision curve analysis(DCA).Results:Among the 293 patients,46 had MAC and 247 had AC,with a preoperative colonoscopic diagnostic rate of 54%for MAC.After PSM(43 pairs),platelet count,platelet lymphocyte ratio(PLR),systemic immune inflammation index(SII),inflammation related prognostic index(IPI),and systemic inflammation score(SIS)were significantly higher in the MAC group,while lymphocyte monocyte ratio(LMR)was lower(all P<0.05).Multivariate analysis identified tumor location,maximum tumor diameter,and preoperative IPI as independent predictors.The AUCs of the nomogram in the training(n=206)and validation(n=87)cohorts were 0.759(95%CI=0.662-0.856)and 0.776(95%CI=0.649-0.903),respectively.Calibration plots showed good agreement between predicted and observed probabilities,and DCA demonstrated satisfactory clinical applicability.Conclusion:A nomogram model integrating tumor location,tumor size,and preoperative IPI was successfully developed and validated for preoperative diagnosis of colorectal MAC.This model provides a practical,quantitative tool with good predictive performance to assist clinicians in individualized treatment planning,particularly for patients ineligible for surgical biopsy.

Epilepsy(EP)is a group of chronic neurological disorders characterized by abnormal discharges of brain neurons.Howeve,approximately one-third of patients exhibit obvious drug resistance,and studies have confirmed the critical role of genetic factors.The ALG13 gene encodes a subunit of uridine diphosphate N-acetylglucosamine(UDP-GlcNAc)transferase,and its mutations can lead to congenital disorders of glycosylation(CDGs).Patients with such mutations frequently present with epileptic seizures,indicating a strong association between ALG13 genetic variants,glycosylation defects,and epilepsy.This review systematically integrates,for the first time,the structural and functional aspects of the ALG13 gene,as well as the evidence of the association between its mutations and epilepsy,and the potential mechanisms of action.Through a multi-dimensional analysis,it provides important clinical guidance for in-depth exploration of the relationship between the ALG13 gene and epilepsy,the development of precise diagnosis,and the research and development of targeted drugs.

Objective:To develop the Nurse Parenting Stress Scale and evaluate its reliability and validity.Methods:Based on Abidin's Parenting Stress Theory, scale items were generated through literature review and semi-structured interviews. The initial version was constructed via Delphi expert consultation. Using a convenience sampling method, nurses from six hospitals in Shandong Province were surveyed between August and October 2024. The first survey collected 314 questionnaires (308 valid, effective recovery rate 98.1%) for item analysis and exploratory factor analysis (EFA). The second survey collected 458 questionnaires (447 valid, effective recovery rate 97.6%) for confirmatory factor analysis (CFA) .Results:The Nurse Parenting Stress Scale consists of 4 dimensions and 31 items. The Cronbach's α coefficient of the total scale was 0.951, split-half reliability was 0.782, and test-retest reliability was 0.926. EFA extracted four common factors explaining 70.241% of the cumulative variance. CFA demonstrated a good model fit. The item-level content validity index ( I- CVI) ranged from 0.889 to 1.000, the scale-level universal agreement content validity index ( S- CVI/ UA) was 0.903, and the scale-level average content validity index ( S- CVI/ Ave) was 0.989. Conclusions:The Nurse Parenting Stress Scale shows strong reliability and validity and can serve as an effective tool for assessing parenting stress among nurses.

With the development of wearable technology, its use in venous thromboembolism (VTE) prevention is of increasing interest to clinical nurses. This paper reviews the technical principles and practical applications of wearable devices in VTE prevention, including the application of electrical stimulation devices and mechanical compression devices, the monitoring of limb activity and physiological parameters, summarizes the advantages of wearable devices in enhancing the efficiency of VTE prevention and patient experience, and discusses the current problems faced and the direction of future research, with the aim of promoting the development of wearable devices in VTE prevention.

Objective:To establish and verify an indirect ELISA for quantitative detection of serum antibody against varicella-zoster virus (VZV).Methods:Recombinant VZV glycoprotein E (gE) was diluted with the coating buffer to concentrations of 2, 0.5, and 0.25 μg/ml. HRP-labeled antibody dilutions were 1∶2 000, 1∶5 000, and 1∶10 000. The optimal coating concentration and the optimal working concentration were determined according to the A450/630 value and the P/N ratio (working reference A450/630 value/blank control A450/630 value). According to the indirect ELISA process, an indirect ELISA quantitative detection method for VZV-specific antibody was established. The linear range, accuracy, and precision of the method were verified. The titers of VZV-specific IgG antibody in 32 serum samples were detected by the established method, fluorescent antibody to membrane antigen (FAMA) test, and commercially available VZV quantitative ELISA kit, and the results of the three methods were compared. Results:The optimal coating concentration was 0.25 μg/ml and the optimal working concentration of HRP-labeled antibody was 1∶10 000. The linear range of the standard curve was 0.015 7-1 mIU/ml; the recovery rate was 95.32%-110.99%, and the coefficient of variation (CV) values for repeatability and the intermediate precision were both less than 10%. The results of the established indirect ELISA were well correlated with the results of FAMA test and commercial ELISA kit (indirect ELISA & FAMA: the correlation coefficient was 0.886 4, indirect ELISA & commercially ELISA kit: the correlation coefficient was 0.806 6).Conclusions:The established indirect ELISA method for serum anti-VZV antibody detection has good accuracy and precision, and shows a good correlation with FAMA test and commercial VZV ELISA kit.