To investigate the mutations of NF1 and clinical phenotypes in patients with sporadic neurofibromatosis type 1 (NF1). This is aimed to evaluate the efficacy of high-throughput sequencing in diagnosing atypical cases, to expand the mutational spectrum of NF1, and to provide early diagnosis of NF1. Clinical data from 11 sporadic NF1 patients without family history treated at the Fifth Affiliated Hospital of Sun Yat-sen University (2019-2023) were collected. The mutations of NF1 gene were detected using whole-exome sequencing or chip-capture high-throughput sequencing, followed by bioinformatics analysis. Novel mutations were screened against normal population databases to exclude benign polymorphisms, and pathogenicity of the mutations was classified according to ACMG guidelines. The results showed that two novel frameshift mutations were identified: c.7904del (p.Asp2635Valfs*9) and c.5122_5123del (p.Phe1708Hisfs*9). The patient carrying c.7904del exhibited an undocumented phenotype of posterior medullary ischemic degeneration. Among the 11 NF1 patients, the types of mutations included frameshift (4/11), nonsense (3/11), intronic (2/11), splicing (1/11), and start codon variants (1/11). Common phenotypes were cafe-au-lait macules (8/11) and neurofibromas (6/11), yet significant phenotypic heterogeneity existed among patients sharing identical mutations. In conclusion, this study discovered two novel NF1 mutations and an unreported phenotype, expanding both the NF1 mutational spectra and highlights the need for attention to cerebrovascular status in patients carrying NF1 mutations. High-throughput sequencing significantly enhances molecular diagnostic efficacy for atypical NF1, providing a critical basis for clinical NF1 diagnosis.

Objective To explore the feasibility of video-assisted thoracoscopic surgery(VATS)in the treatment of congenital pulmonary airway malformation(CPAM)or pulmonary isolation complicated with ipsilateral mediastinal bronchogenic cyst in children.Methods From July 2019 to July 2024,VATS was carried out to treat CPAM or pulmonary isolation with ipsilateral mediastinal bronchogenic cyst in 7 children.A three-hole thoracoscopic surgery via lateral thoracic approach was performed.The patients were placed in a healthy lateral position.The observation hole was located at the intersection of the subscapular line and the 5th intercostal space,and the operating hole was established according to the surgical requirements in combination with the lumboscopic diamond rule.A 5 mm trocar was used for all three holes.The pressure of CO2 pneumothorax was 4 mm Hg and the flow rate was 2 L/min,which was adjusted at any time according to the intraoperative conditions of the children.The operation was mainly designed for lung operation.The pulmonary operation was conducted firstly,and then the bronchogenic cyst was treated.If necessary,block resection was applied to avoid serious complications of trachea.Results All the operations were performed under thoracoscopy without conversion to open surgery.The operation time was 37-191 min(median,101 min).The intraoperative bleeding volume was 1-15 ml(median,5 ml).One case was not given a closed chest drainage tube placed,and the other 6 cases were placed a closed chest drainage for 1-5 d(median,3d).Postoperative pathology showed 5 cases of CPAM combined with bronchogenic cysts,including 4 cases of type 2(bronchiole type)and 1 case of type 3(bronchiole/alveolar type),and 2 cases of extralobular pulmonary isolation combined with bronchogenic cysts.All the 7 cases were followed up for 6-57 months(median,27 months),and chest CT showed no recurrence of lesions.Conclusions CPAM or pulmonary isolation may be accompanied by bronchogenic cysts.Preoperative imaging examination should correspond to surgical observation,and careful exploration should be conducted to avoid missed diagnosis.VATS is safe and feasible for treating CPAM or pulmonary isolation with ipsilateral mediastinal bronchogenic cysts.

The multidisciplinary diagnosis and treatment (MDT) mode plays a positive role in diagnosing and treating difficult and complicated diseases, improving service quality, and promoting the construction of an integrated medical system. In March 2023, Zhejiang Provincial People′s Hospital had launched the " 6 New" MDT management practice to further improve the hospital′s inpatient MDT service level, including new concepts, new architectures, new standards, new processes, new models, and new quality control. This practice had improved the quality and efficiency of MDT management and promoted interdisciplinary integration by strengthening top-level design, establishing MDT leadership and quality control teams, developing relevant standards and specifications, enhancing the level of information management throughout the entire process, implementing diversified MDT models, and implementing quality control measures. As of July 2024, the hospital had established 80 MDT teams covering 30 clinical departments, conduct 120 MDT discussions for hospitalized cases per month, and with the continuous promotion of inpatient MDT work, the number of MDT teams and cases continued to increase. This practice had achieved good results and could provide references for other public hospitals in China to improve the level of inpatient MDT services.

Objective To explore the feasibility of video-assisted thoracoscopic surgery(VATS)in the treatment of congenital pulmonary airway malformation(CPAM)or pulmonary isolation complicated with ipsilateral mediastinal bronchogenic cyst in children.Methods From July 2019 to July 2024,VATS was carried out to treat CPAM or pulmonary isolation with ipsilateral mediastinal bronchogenic cyst in 7 children.A three-hole thoracoscopic surgery via lateral thoracic approach was performed.The patients were placed in a healthy lateral position.The observation hole was located at the intersection of the subscapular line and the 5th intercostal space,and the operating hole was established according to the surgical requirements in combination with the lumboscopic diamond rule.A 5 mm trocar was used for all three holes.The pressure of CO2 pneumothorax was 4 mm Hg and the flow rate was 2 L/min,which was adjusted at any time according to the intraoperative conditions of the children.The operation was mainly designed for lung operation.The pulmonary operation was conducted firstly,and then the bronchogenic cyst was treated.If necessary,block resection was applied to avoid serious complications of trachea.Results All the operations were performed under thoracoscopy without conversion to open surgery.The operation time was 37-191 min(median,101 min).The intraoperative bleeding volume was 1-15 ml(median,5 ml).One case was not given a closed chest drainage tube placed,and the other 6 cases were placed a closed chest drainage for 1-5 d(median,3d).Postoperative pathology showed 5 cases of CPAM combined with bronchogenic cysts,including 4 cases of type 2(bronchiole type)and 1 case of type 3(bronchiole/alveolar type),and 2 cases of extralobular pulmonary isolation combined with bronchogenic cysts.All the 7 cases were followed up for 6-57 months(median,27 months),and chest CT showed no recurrence of lesions.Conclusions CPAM or pulmonary isolation may be accompanied by bronchogenic cysts.Preoperative imaging examination should correspond to surgical observation,and careful exploration should be conducted to avoid missed diagnosis.VATS is safe and feasible for treating CPAM or pulmonary isolation with ipsilateral mediastinal bronchogenic cysts.

To investigate the mutations of NF1 and clinical phenotypes in patients with sporadic neurofibromatosis type 1 (NF1). This is aimed to evaluate the efficacy of high-throughput sequencing in diagnosing atypical cases, to expand the mutational spectrum of NF1, and to provide early diagnosis of NF1. Clinical data from 11 sporadic NF1 patients without family history treated at the Fifth Affiliated Hospital of Sun Yat-sen University (2019-2023) were collected. The mutations of NF1 gene were detected using whole-exome sequencing or chip-capture high-throughput sequencing, followed by bioinformatics analysis. Novel mutations were screened against normal population databases to exclude benign polymorphisms, and pathogenicity of the mutations was classified according to ACMG guidelines. The results showed that two novel frameshift mutations were identified: c.7904del (p.Asp2635Valfs*9) and c.5122_5123del (p.Phe1708Hisfs*9). The patient carrying c.7904del exhibited an undocumented phenotype of posterior medullary ischemic degeneration. Among the 11 NF1 patients, the types of mutations included frameshift (4/11), nonsense (3/11), intronic (2/11), splicing (1/11), and start codon variants (1/11). Common phenotypes were cafe-au-lait macules (8/11) and neurofibromas (6/11), yet significant phenotypic heterogeneity existed among patients sharing identical mutations. In conclusion, this study discovered two novel NF1 mutations and an unreported phenotype, expanding both the NF1 mutational spectra and highlights the need for attention to cerebrovascular status in patients carrying NF1 mutations. High-throughput sequencing significantly enhances molecular diagnostic efficacy for atypical NF1, providing a critical basis for clinical NF1 diagnosis.

The multidisciplinary diagnosis and treatment (MDT) mode plays a positive role in diagnosing and treating difficult and complicated diseases, improving service quality, and promoting the construction of an integrated medical system. In March 2023, Zhejiang Provincial People′s Hospital had launched the " 6 New" MDT management practice to further improve the hospital′s inpatient MDT service level, including new concepts, new architectures, new standards, new processes, new models, and new quality control. This practice had improved the quality and efficiency of MDT management and promoted interdisciplinary integration by strengthening top-level design, establishing MDT leadership and quality control teams, developing relevant standards and specifications, enhancing the level of information management throughout the entire process, implementing diversified MDT models, and implementing quality control measures. As of July 2024, the hospital had established 80 MDT teams covering 30 clinical departments, conduct 120 MDT discussions for hospitalized cases per month, and with the continuous promotion of inpatient MDT work, the number of MDT teams and cases continued to increase. This practice had achieved good results and could provide references for other public hospitals in China to improve the level of inpatient MDT services.

Objective:To analyze the correlation between cuproptosis genes and immune infiltration during the occurrence and development of multiple sclerosis(MS),and to predict the traditional Chinese medicine,to provide theoretical basis for the mecha-nism study of cuproptosis in MS immune infiltration and Chinese medicine to intervene in immune regulation.Methods:The gout chip of MS was downloaded from the GEO database and standardized;based on the processed data,immune cells and functions were ex-tracted and quantified,and the correlation and differences of immune cells and functions were analyzed;at the same time,cuproptosis genes related to MS were screened out,a risk model was constructed,and enrichment analysis was carried out;the prediction of cu-proptosis genes and immune-related biological processes were carried out.Results:① Among immune cells,T follicular helper cell and B cell showed the strongest positive correlation;among the immune functions,parainflammation and typeⅠIFN reponse showed the strongest positive correlation;②B cell,T helper cell and human leukocyte antigen were lowly expressed in MS patients,while major histocompatibility complex class Ⅰ,parainflammation and typeⅠIFN response were significantly expressed;③ The cupropto-sis genes associated with MS were SLC31A1,PDHA1,NLRP3,MTF1,GLS and DBT,of which DBT was the most likely risk factor for MS;④The occurrence and development of MS involves biological processes such as IL-4 production,T-helper cell differentiation,and acute inflammatory response,which were related to pathways such as arginine biosynthesis,citrate cycle,and propanoate metabo-lism;⑤Banxia,Danshen,Jianghuang and other traditional Chinese medicines may be used as potential molecular drug sources.Con-clusion:The expression of cuproptosis gene is closely related to MS-related immune cells and functions,which can provide support for the basic research of MS.

T-cell exhaustion is the loss of T-cell function in patients with chronic infections and cancer.Pro-longed exposure to inflammatory signals or persistent antigens causes T cells to gradually lose their effector function and memory characteristics.Exhausted T cells affect cancer prognosis and the outcome of viral infection,and the severity of ex-haustion has a range of adverse effects on cancer prognosis.The extensive development of tumor immunotherapy has driven current research to understand the mechanism of T-cell exhaustion as well as to optimize tumor immunotherapy regimens by reversing T-cell exhaustion.This article reviews the mechanism of T-cell exhaustion,the characteristics of exhausted T cells,and the reversal of T-cell exhaustion status.

Objective:To analyze ultrasonographic manifestations and genetic etiology of nine fetuses with 7q11.23 duplication syndrome.Methods:Ultrasonographic finding, pregnancy outcome and follow-up of nine fetuses detected at the Prenatal Diagnosis Center of the Third Affiliated Hospital of Zhengzhou University from January 2017 to December 2021 were retrospectively analyzed.Results:The fetuses were found to harbor a duplication in the 7q11.23 region by chromosomal microarray analysis (CMA). Among these, five had shown ventriculomegaly, including four syndromic and one non-syndromic. For the remainders, one had ventricular septal defect and mild tricuspid regurgitation, one had echogenic intracardiac focus, whilst another two were normal. Five couples had accepted parental verification, and the results confirmed that the 7q11.23 duplication carried by their fetuses were de novo in origin. Following genetic counseling, seven couples had opted to terminate their pregnancies. Two fetuses were delivered at full term, and follow-up had found no abnormalities. Conclusion:Prenatal ultrasonographic manifestations of fetuses with 7q11.23 duplication syndrome are variable. CMA can provide assistance for their diagnosis and genetic counseling.

Objective:To explore the association of triglyceride glucose (TyG) index and its combination with body mass index (TyG-BMI) with non-alcoholic fatty liver disease (NAFLD) among medical workers.Method:A total of 1 642 medical workers in Beijing Jishuitan Hospital with the age of 36.0 (31.0, 44.0) years and 394 males (24.00%) underwent health check-up in the hospital from January to December 2022. Among them, NAFLD was diagnosed in 377 subjects (NAFLD group) and 1 265 had no NAFLD (control group). The anthrometric and clinical data were collected, including age, gender, height, weight, systolic blood pressure, diastolic blood pressure, laboratory test indicators, imaging findings, current and past medical history, long-term medication history, alcohol consumption history, etc. The factors associated NAFLD were analyzed with multivariate logistic regression model, the diagnostic value of TyG index and TyG-BMI for NAFLD was evaluated with receiver operating characteristic (ROC) curve.Results:Multivariate logistic regression analysis showed that TyG index ( OR=3.534, 95% CI: 2.383-5.243, P<0.001) and TyG-BMI ( OR=1.041, 95 CI:1.033-1.048, P<0.001) were independently correlated with NAFLD. ROC curve analysis showed that the area under the curve ( AUC) of TyG-BMI in diagnosis of NAFLD was 0.906 (95% CI:0.890-0.922), with a sensitivity and specificity of 85.7% and 81.6%, respectively; while the AUC of TyG index was 0.845 (95% CI:0.823-0.867) with a sensitivity and specificity of 69.8% and 84.1%, respectively. The AUC of TyG-BMI in female medical workers (0.911, 95% CI:0.892-0.931) was higher than that of male ones (0.852, 95% CI:0.815-0.890); the AUC of TyG index of female medical workers (0.832, 95% CI:0.801-0.863) was also higher than that in male ones (0.804, 95% CI:0.761-0.846). Conclusion:The prevalence of NAFLD among medical worker is associated with the TyG and TyG-BMI, and TyG-BMI has higher diagnostic value for NAFLD, especially among female medical workers.