OBJECTIVE: To explore the clinical and genetic features of a child with Pontocerebellar hypoplasia type 2B (PCH2B) due to compound heterozygous variants of the TSEN2 gene. METHODS: A PCH2B patient presented at Department of Pediatric Neurology, Xiangya Hospital of Central South University in June 2023 was selected as the study subject. Clinical data of the patient were retrospectively analyzed. The patient and her parents were subjected to whole exome sequencing and bioinformatic analysis. Pathogenicity of the candidate variants were classified based on the guidelines from the American College of Medical Genetics and Genomics (ACMG). A literature review was also conducted by searching the China National Knowledge Infrastructure (CNKI), Wanfang Data, and PubMed databases from their establishment to May 2025 using keywords "TSEN2 gene" "PCH2B" and "Pontocerebellar Hypoplasia 2B" to summarize the clinical and genotypic features of patients with PCH2B due to variants of the TSEN2 gene. This study was approved by the Medical Ethics Committee of the Hospital (No.: #202310892). RESULTS: The patient, a 6-year-5-month-old girl, had exhibited severe global developmental delay, developmental regression, autism spectrum disorder, myoclonus of eyelids, feeding difficulty, irritability, progressive microcephaly, esotropia, and hypotonia. MRI showed reduced volume of bilateral cerebellar hemispheres and vermis. Genetic testing revealed that she has harbored compound heterozygous variants of the TSEN2 gene (NM_025265.4), namely c.1054A>T (p.Lys352*) and c.899G>T (p.Ser300Ile), which were inherited from her father and mother, respectively. Both variants were classified as likely pathogenic based on the ACMG guidelines and were previously unreported. Literature review has identified six PCH2B patients with missense, nonsense, frameshift, and splice site variants of the TSEN2 gene. Their main clinical manifestations included global developmental delay, progressive microcephaly, feeding difficulties, irritability, and vermis hypoplasia. Cranial MRI and genetic testing are crucial for definite diagnosis. CONCLUSION The c.1054A>T (p.Lys352*) and c.899G>T (p.Ser300Ile) compound heterozygous variants of the TSEN2 gene probably underlay the pathogenesis in this patient. Above findings has expanded the genotypic and phenotypic spectra of TSEN2-related PCH2B, and offered guidance for genetic counseling for this family.
Child ; Female ; Humans ; Cerebellar Diseases/genetics* ; Exome Sequencing ; Heterozygote ; Mutation

With the rapid development of large language models and related technologies, various forms of patient modeling have emerged, including virtual patients, synthetic patients, artificial intelligence patients, and digital twin patients. Although these forms all share the core objective of patient simulation, they exhibit significant differences in theoretical ontology, data sources, modeling logic, and application orientation. Based on the abstraction levels of simulation objects and system mapping logic, this study systematically compares five paradigms—standardized patients, virtual patients, synthetic patients, AI patients, and digital twin patients—to clarify their conceptual boundaries and technical positioning. The findings indicate that these paradigms represent distinct modeling pathways: behavioral reproduction, scenario simulation, data generation, cognitive interaction, and individual system mapping, respectively. By constructing a multidimensional comparative framework, this study provides a theoretical foundation for the conceptual standardization of patient modeling and the strategic deployment of intelligent healthcare systems.

ObjectiveTo investigate the risk factors for plastic bronchitis （PB） in children with Mycoplasma pneumoniae pneumonia （MPP） and to construct a predictive model. MethodsPropensity score matching （1∶4 nearest neighbor matching） was used to balance baseline data between the two groups. Univariate and multivariate Logistic regression analyses were performed to identify independent risk factors. Various machine learning algorithms were applied to build predictive models， and model performance was evaluated using receiver operating characteristic curves， decision curves， and calibration curves. SHapley Additive exPlanations （SHAP） method was used for model interpretation. ResultsAfter matching， baseline characteristics were comparable between the two groups. Compared with the non-PB group， the PB group had significantly longer fever duration， higher incidence of pleural effusion and right upper lobe involvement， and higher levels of procalcitonin （PCT）， D-dimer， lactate dehydrogenase （LDH）， alanine aminotransferase （ALT）， aspartate aminotransferase （AST）， immunoglobulin E （IgE）， and red blood cell count in bronchoalveolar lavage fluid （BALF） （all P<0.05）， while lymphocyte and eosinophil counts in blood were significantly lower （P<0.05）. Multivariate Logistic regression showed that PCT>0.207 μg/L， LDH>386.25 U/L， right upper lobe involvement， and red blood cell count in BALF>1 500×10⁶ were independent risk factors. Among machine learning models， the gradient boosting machine （GBM） model achieved an area under the curve of 0.786 in the validation set， demonstrating the best generalization ability. SHAP analysis validated the importance of the above variables. ConclusionThe four indicators above have independent predictive value for PB occurrence， and the GBM model shows certain clinical risk stratification capability.

Objective To analyze and compare the diagnostic criteria of dampness syndrome in clinical studies and construct a dampness syndrome entry pool,so as to provide theoretical support for the development of dampness-related scales,and then provide reference for clinical research.Methods By searching the literature collected by CNKI,VIP and Wanfang data database from 1960 to 2023,the clinical research literature of dampness syndrome was searched and screened,and the diagnostic criteria of dampness syndrome were summarized and analyzed.Results A total of 7651 articles were retrieved from the above database,and 52 articles were finally included.9 diagnostic criteria were obtained by combining the screening of teaching materials.They are The National Standard of Chinese Medicine Clinical Diagnosis and Treatment of Chinese Medicine(GB/T16751.2-1997),Syndrome element differentiation,Traditional Chinese Medicine Syndrome Standards,Traditional Chinese Medicine Syndrome Differentiation and Diagnosis,Diagnostics of Traditional Chinese Medicine(Fifth edition,sixth edition,second edition of the new century,People's Health Commission edition,and tenth edition of the National Higher Traditional Chinese Medicine College Planning Textbook).The diagnostic methods can be divided into three kinds:narrative method,primary and secondary disease(or see disease)classification diagnosis method,and assigning method.There are a total of 36 symptom components,which can be divided into four groups:the accumulation of muscle and striae group,the obstruction of meridians and joints group,the internal accumulation of organs group,and the dampness and obstruction of orifices group.The National Standard of Chinese Medicine Clinical Diagnosis and Treatment of Chinese Medicine(GB/T16751.2-1997)has been cited for a maximum of 22 times,covering 16 diseases.Conclusion The National Standard of Chinese Medicine Clinical Diagnosis and Treatment of Chinese Medicine is the most widely used in clinical research,and the new version of national standard in 2021 is more suitable for the current diagnosis and clinical research of dampness syndrome.

Objective:To comparatively the efficacy of the combined external fixator and the Ilizarov in the treatment of open tibia-fibula fractures and their influence on postoperative infection.Methods:A total of 215 patients with open tibio-fibula fractures diagnosed and treated at Tianjin Medical University General Hospital Airport Site from January 2021 to January 2024 were retrospectively selected as the research subjects. They were divided into the observation group (110 cases, using the combined external frame) and the control group (105 cases, using theIlizarov) according to the types of external fixators adopted. The clinical efficacy, bone healing condition, X-ray callus score, and serological indicators, including the bone morphogenetic protein (BMP-2), vascular endothelial growth factor (VEGF), osteocalcin (OC), C-reactive protein (CRP) in the two groups were compared. The America Orthopedic Foot & Ankle Society(AOFAS) score, Hospital for Special Surgery (HSS) score, and Health Survey Scale (SF-36) score were applied to evaluate the recovery of patients, and the postoperative infection conditions in the two groups were compared.Results:At 12 months after the operation, the excellent and good rate of clinical efficacy in the observation group was higher than that in the control group:90.00%(99/110) vs. 80.00%(84/105), there was statistical difference ( χ2 = 4.24, P<0.05). The complete weight-bearing time, swelling elimination time, bone healing time and postoperative hospital stay in the observation group were shorter than those in the control group:(144.73 ± 15.48) d vs. (152.12 ± 15.55) d, (11.25 ± 1.34) d vs. (13.18 ± 1.37) d, (123.01 ± 12.53) d vs. (136.38 ± 13.45) d, (30.15 ± 3.24) d vs. (31.47 ± 3.48) d, there were statistical differences ( P<0.01). The X-ray callus scores in the observation group at 1 week and 1, 3 and 6 months after the operation were higher than those in the control group: (1.37 ± 0.15) scores vs. (1.28 ± 0.14) scores, (7.65 ± 0.83) scores vs. (5.64 ± 0.75) scores,(12.34 ± 1.25) scores vs. (10.78 ± 1.16) scores,(14.52 ± 1.56) scores vs.(12.11 ± 1.35) scores, there were statistical differences ( P<0.01). Six months after the operation, the levels of BMP-2, VEGF and OC in the observation group were higher than those in the control group: (84.23 ± 8.51) ng/L vs. (76.79 ± 7.82) ng/L, (17.26 ± 1.83) ng/L vs. (15.34 ± 1.67) ng/L, (18.34 ± 1.92) μg/L vs. (6.48 ± 1.75) μg/L; while CRP was lower than that in the control group: (6.49 ± 0.76) mg/L vs. (7.13 ± 0.78) mg/L; there were statistical differences ( P<0.01). The scores of AOFAS, HSS and SF-36 in the observation group at 6 months after the operation were higher than those in the control group: (76.34 ± 7.85) scores vs. (70.11 ± 7.49) scores,(70.12 ± 7.63) scores vs. (67.77 ± 6.68) scores, (93.57 ± 10.34) scores vs. (85.73 ± 8.65) scores, there were statistical differences ( P<0.01 or <0.05). The patients were followed up for 12 months after the operation. There was no statistical difference in the incidence of complications between the two groups ( P>0.05). Conclusions:Compared with the Ilizarov, the combined external fixator has a better therapeutic effect in the treatment of open tibia-fibula fractures. It can promote the healing of bone wounds, improve joint function and quality of life, and has good safety.

Objective:To analyze the efficacy and safety of Minocycline for treating macrolide-unresponsive Mycoplasma pneumoniae pneumonia (MUMPP) in children aged 6-14 years, and to investigate the influencing factors of severe Mycoplasma pneumoniae pneumonia (SMPP). Methods:Retrospective cohort study.The clinical data of 247 children with MUMPP hospitalized in the Department of Pediatrics, the First Affiliated Hospital of Anhui Medical University from August to December 2023 were analyzed.According to the medication 3 to 7 days after conventional macrolide treatment, the children were divided into an Azithromycin group (107 cases) and a Minocycline group (140 cases). Clinical indicators such as the length of hospital stay and chest radiograph absorption time were compared between the two groups.Multivariate Logistic regression analysis was performed on children with SMPP to explore the correlation of the incidence of severe cases with the initiation time of Minocycline, serum vitamin D, lactate dehydrogenase (LDH), C-reactive protein (CRP) levels.Results:In the Minocycline group, the median hospital stay was shortened by 1.0 d (4.0 d vs.5.0 d, P=0.008), the median time for cough improvement after hospitalization was reduced by 3.0 d (2.0 d vs.5.0 d, P<0.001), and the duration of coughing, time to normal body temperature, and the 1-2-week improvement rate of chest imaging [91.4%(128/140) vs.49.5%(53/107), P<0.001] were all significantly better, compared with those in the Azithromycin group.In addition, the Glucocorticoid use rate [35.7%(50/140) vs.49.5%(53/107), P=0.029] in the Minocycline group was significantly lower than that in the Azithromycin group.The incidence of drug-related adverse reactions was only 0.71%(1/140) in the Minocycline group.A longer duration of macrolide treatment before Minocycline administration [odds ratio ( OR)=1.386, 95% confidence interval ( CI): 1.038-1.850, P=0.027], lower serum vitamin D levels ( OR=0.841, 95% CI: 0.748-0.945, P=0.004), elevated LDH levels ( OR=1.023, 95% CI: 1.009-1.037, P=0.001), and elevated CRP levels ( OR=1.074, 95% CI: 1.035-1.114, P<0.001) were associated with SMPP.The area under the receiver operating characteristic curve of the combined model for predicting SMPP was 0.912 7. Conclusions:Minocycline shows better efficacy than Azithromycin in treating MUMPP children aged 6-14 years, with comparable safety.LDH and CRP levels are independent risk factors for SMPP, while the serum vitamin D level is a protective factor.Early initiation of Minocycline treatment can optimize the clinical outcome.

Objective:To systematically evaluate the effect of virtual reality exercise training on gait performance in older adults.Methods:Randomized controlled trials on the rehabilitation effects of virtual reality exercise training on gait performance in older adults were electronically searched in PubMed, Embase, Cochrane Library, Web of Science, China National Knowledge Infrastructure, Wanfang Data, VIP, and China Biology Medicine disc. The search period was from establishing of the database to January 10, 2025. Version 2 of the Cochrane risk of bias tool for randomized trials (RoB 2) was used to evaluate the methodological quality of the included literature. Meta-analysis was performed using RevMan 5.4.Results:A total of 27 articles were included. Meta-analysis showed that the effect of virtual reality exercise on improving the functional walking ability of older adults was better than traditional exercise [ WMD=-0.83, 95% CI (-1.31, -0.36) , P<0.01]. However, virtual reality exercise did not improve step speed, stride length, step frequency, and dynamic gait indices in older adults ( P>0.05) . Subgroup analysis showed that virtual reality exercise was more effective than traditional exercise in improving step speed in older adults when the length of the weekly intervention was≥120 min [ SMD=0.48, 95% CI (0.04, 0.92) , P=0.03]. Conclusions:Virtual reality exercise training effectively improves walking ability in older adults but has no advantage in improving refined gait-related indicators. Future interventions in the form of virtual reality exercise training combined with traditional exercise rehabilitation are recommended for older adults.

Hydrogels are an important direction in the field of biomedicine in recent years.Their biocompatibility,biodegradability and biomechanical properties make them ideal materials for the clinical treatment of skin wounds,and they have important research and clinical application values.As a high water content three-dimensional(3D)network structure polymer material with many unique biomechanical shapes,hydrogel has the potential to be applied to skin wounds with many mechanical properties,such as elasticity,viscoelasticity,dynamic stiffness and adhesion,which can not only protect the wound surface after artificial adjustment,but also help to simulate the mechanical microenvironment of biological tissues during healing.Then the function and behavior of cells are regulated to promote cell regeneration,strengthen tissue repair and functional recovery.At the same time,the biomechanical mechanism of skin wound healing is complex,and there are still many challenges in the clinical treatment of skin wounds with hydrogels.Future studies will further focus on the mechanism of biomechanical properties in skin wound healing.In conclusion,hydrogels are expected to be more widely used in the clinical treatment of skin wounds due to their unique mechanical properties.In this review,recent research progress on biomechanical properties of hydrogels is summarized,including regulatory mechanisms and their clinical application in promoting skin wound repair,the importance of studying these properties for the design of tissue engineering scaffold materials is emphasized,and the design,use and clinical transformation of mechanically regulated wound healing is prospeced.

Objective:To develop an artificial intelligence (AI)-based automatic scoring model for magnetic resonance imaging-detected extramural vascular invasion (AI-mrEMVI) and evaluate its performance and prognostic value in patients with rectal cancer.Methods:In this multicenter retrospective cohort study, a total of 2 501 rectal cancer patients from seven centers between November 2012 and December 2020 were included and divided into completely independent training ( n=1 830) and validation ( n=671) cohorts. A nnUNet-based AI-mrEMVI scoring model was constructed. Manual mrEMVI scores assigned by two radiologists served as the reference standard for accessing the accuracy of the AI-mrEMVI scoring. Kaplan-Meier survival analysis and Cox regression were used to evaluate the prognostic stratification ability of the AI-mrEMVI scores. The concordance index (C-index) was calculated to evaluate prognostic performance. Results:In the validation cohort, the manual mrEMVI scores were 0-2 in 425 patients (63.3%), 3 in 89 (13.4%), and 4 in 157 (23.4%). The AI-mrEMVI model identified 0-2 in 375 patients (55.9%), 3 in 95 (14.2%), and 4 in 201 (30.0%), with an overall accuracy of 81.1% (544/671, 95% CI 77.9%-84.0%). The 3-year disease-free survival (DFS) rates for patients with AI-mrEMVI scores of 0-2, 3, and 4 were 85.2%, 70.0%, and 58.2%, respectively, and the 5-year overall survival (OS) rates were 87.2%, 81.6%, and 62.6%, respectively (DFS: χ2=48.74, P<0.001; OS: χ2=30.04, P<0.001). Multivariable Cox regression showed that for DFS, AI-mrEMVI scores of 3 and 4 were associated with hazard ratios ( HR) of 1.75 (95% CI 1.11-2.77, P=0.016) and 2.65 (95% CI 1.86-3.78, P<0.001), respectively. For OS, an AI-mrEMVI score of 4 was associated with an HR of 2.56 (95% CI 1.62-4.03, P<0.001). The C-index values of the AI-mrEMVI scoring model for predicting DFS and OS were 0.647 (95% CI 0.608-0.686) and 0.650 (95% CI 0.598-0.702), respectively. Conclusion:The proposed AI-mrEMVI automatic scoring model demonstrated high diagnostic accuracy and performed favorably in predicting DFS and OS prognostic risk in patients with rectal cancer.

Objective This study aimed to investigate the efficacy of modified endoscopic autologous cartilage eustachian tube pharyngeal orifice tuboplasty(MEACETT)in patients with patulous eustachian tube(PET).Meth-ods A retrospective analysis was conducted on the clinical data of 27 patients(30 ears)diagnosed with PET who underwent MEACETT.Autologous cartilage was used through the incision at the posterior end of the inferior turbi-nate and filled into the lateral wall of the pharyngeal orifice of the eustachian tube.Without affecting the movement function of the eustachian tube during swallowing,the collapse of the pharyngeal orifice was fully filled.Before and after the surgery,the visual analogue scale(VAS),the eustachian tube dysfunction questionnaire-7(ETDQ-7)and hospital anxiety and depression scale(HADS)was used for assessment to evaluate the surgical efficacy.Results There was no significant difference in depression scores before and after surgery(P＞0.05).However,postopera-tive anxiety scores,ETDQ-7 scores,and VAS scores were significantly lower than preoperative scores(P＜0.05).Among the 27 patients,9 showed significant symptom relief,13 exhibited partial relief,and 5 had no significant change compared to preoperative symptoms.The overall response rate of the treatment(significant relief and partial relief)was 81.48％(22/27).All surgeries were successfully performed.Except for secretory otitis media occurring in 2 cases,no major complications were observed.Conclusion MEACETT demonstrates significant symptom relief in PET patients,with high surgical safety and low complication rates,making it worthy of clinical promotion.