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.

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.

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 explore the mediating role of intolerance of uncertainty(IU)and moderating role of the negative emotion differentiation in the influence of perceived stress on anxiety among college students from a cognitive perspective.Methods A total of 271 participants were surveyed using the perceived stress scale,intolerance of uncertainty scale,depression anxiety and stress scale(Chinese version),and the test on negative emotional differentiation.SPSS 22.0 was used to perform descriptive statistics and correlation analyses and to test the moderated mediation model.Results Perceived stress affected anxiety and IU played a mediating role-perceived stress could affect anxiety through influencing IU.At the same time,the influence of IU on anxiety could be adjusted through the negative emotion differentiation.The higher the degree of negative emotion differentiation,the lower the degree of anxiety increase(β=0.17,t=5.70,P＜0.01).Conclusion It may be effective to develop training programs to reduce anxiety by regulating perceived stress,increasing acceptance of uncertainty,and improving the negative emotion differentiation,which can help individuals reduce anxiety by perceiving and adjusting anxiety-related emotional or cognitive factors in a timely manner.

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: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 investigate the distribution of CGG repeat numbers in the FMR1 gene among reproductive-age women in China, providing data reference for carrier screening and genetic counseling of Fragile X syndrome. Methods:This cross-sectional study recruited 16 610 reproductive-age women from 12 medical institutions between July 2022 and October 2023. Peripheral venous blood samples (3 mL) were collected, and genomic DNA was extracted. The number of CGG repeats in the FMR1 gene was determined using the triplet-primed polymerase chain reaction (TP-PCR) combined with capillary electrophoresis technology. Statistical analyses were performed to assess the prevalence and distribution of CGG repeat expansions. Results:Among 16 610 women of childbearing age, 5 684 (34.220%) women had the same number of CGG repeats in the two alleles of FMR1 gene, and 10 926 (65.780%) women had different numbers of repeats in the two alleles. Among the 33 220 FMR1 alleles in 16 610 women of reproductive age, the most common CGG repeat numbers were 29 [48.645% (16 160/33 220)] and 30 [26.276% (8 729/33 220)], while the most frequent CGG genotype was CGG 29/29 [24.726% (4 107/16 610)]. The CGG repeat numbers of FMR1 gene were normal in 16 498 women (99.326%). Among the 112 women (0.674%) with CGG repeat abnormities, 96 (0.578%) women were classified as intermediate carriers, 15 (0.090%) as premutation carriers, and 1 (0.006%) as a full mutation carrier, whose CGG genotype was (36, >200). Conclusion:In the general reproductive-age female population in China, the normal CGG repeat numbers of the FMR1 gene account for 99.326%, while the intermediate carrier rate is 0.578%, and the combined carrier rate of the premutation and full mutation types is 0.096%.

Objective:To explore the clinical value of endoscopic thyroidectomy by gasless unilateral axillary approach (ETGUA) on papillary thyroid carcinoma (PTC) in the elderly based on COX survival analysis.Methods:Clinical data of 51 elderly PTC patients who received traditional open surgery in Yantaishan Hospital, Yantai, Shandong Province from Mar. 2022 to Mar. 2025 were retrospectively analyzed and the patients included in control group. Clinical data of 54 elderly PTC patients who were treated with ETGUA during the same period were retrospectively analyzed and the patients were enrolled as observation group. The incidence rates of postoperative complications in the two groups were counted. The clinical related indexes (intraoperative blood loss, number of lymph node dissection, hospitalization time, surgical time) were compared. The survival rate was analyzed at 1 year, 2 years and 3 years after surgery, and the influencing factors of survival time of papillary thyroid carcinoma were analyzed by COX regression model.Results:The intraoperative blood loss in observation group was significantly less than that in control group ( t=12.56, P=0.000) while the number of lymph node dissection and surgical time were significantly more or longer than those in control group ( t=14.71, 13.90, P<0.05). There was no significant difference in hospitalization time between the two groups ( t=1.85, P=0.068). The total incidence rate of postoperative complications in observation group was significantly lower than that in control group ( χ 2= 8.57, P=0.000). Follow-up after 3 years revealed that the survival rate in observation group was significantly higher than that in control group ( χ 2= 4.95, P=0.026). COX survival analysis showed that age, TNM staging and tumor count were the influencing factors of survival time in PTC patients ( χ 2= 9.54, 7.30, 5.41, P=0.002, 0.007, 0.020) . Conclusion:ETGUA has good clinical value on elderly PTC patients, and it is helpful to reduce the degree of intraoperative trauma and the probability of postoperative complications, and improve the prognosis.

Objective:To develop and evaluate a deep learning-based automatic measurement model for panoramic ultrasound biomicroscopy (UBM) images.Methods:A diagnostic test study was conducted.Preoperative UBM examination results of 372 patients who underwent implantable collamer lens (ICL) implantation were collected at the Eye Center of Renmin Hospital of Wuhan University between February 2021 and March 2023.A total of 1 368 panoramic UBM images were obtained to establish an image database.The dataset was divided into a training set (760 images), a validation set (86 images) and an internal test set (522 images).An expert panel consisting of three ophthalmologists annotated the images.The UNet+ + network was used to automatically segment anterior segment tissues, such as the cornea, lens and iris.In addition, image processing techniques and geometric localization algorithms were developed to automatically identify the anatomical landmarks of pupil diameter (PD), anterior chamber depth (ACD), angle-to-angle distance (ATA) and sulcus-to-sulcus distance (STS) to complete the measurement of these parameters.Additionally, 480 panoramic UBM images of 135 patients (240 eyes) from Aier Eye Hospital of Wuhan University were used as an external test set to further evaluate the performance of the model in different centers.The consistency between the measurements from the model and expert panel, the Pentacam system was assessed.Finally, 150 images were randomly selected from the external test set for a human-machine comparison to further evaluate the model's performance.This study adhered to the Declaration of Helsinki.The study protocol was approved by the Ethics Committee of Renmin Hospital of Wuhan University (No.WDRY-2022-K109) and Aier eye Hospital of Wuhan University (No.2023IRBKY120903).Written informed consent was obtained from each subject.Results:In the internal test dataset and external test dataset, with manual labeling as the reference standard, the model achieved a mean Dice coefficient of not less than 0.882.At least 95.65% of the anatomical landmark localization results had Euclidean distance differences within 250 μm.The intraclass correlation coefficients (ICCs) for the measurements of PD, ACD, angle-to-angle ATA, and STS were at least 0.958, with mean relative errors not exceeding 2.407%.With the Pentacam measurements as the reference standard, the ICCs for PD in the internal and external test sets were 0.540 and 0.466, respectively, while the ICCs for ACD were 0.946 and 0.908, respectively.In the human-machine comparison, the ICCs between the model's measurements and those of senior experts were all not lower than 0.969.Conclusions:The deep learning-based model can automatically measure anterior segment parameters from preoperative panoramic UBM images of patients undergoing ICL surgery.The model demonstrates a consistency comparable to that of senior experts, while providing higher efficiency.In terms of ACD measurement, the model shows good agreement between the measurements obtained from the model and Pentacam system.