Cerebral venous sinus thrombosis(CVST)is one of the significant causes of pediatric stroke.Its clinical manifestations are non-specific,including seizures,altered state of consciousness,and neurological deficits.It is usually associated with a high risk of mortality and disability.Although anticoagulation remains the first-line therapy of CVST in children,some children still experience poor prognosis.In recent years,endovascular treatment(EVT),such as mechanical thrombectomy and intrasinus thrombolysis,has emerged as a crucial therapeutic approach for CVST.This review summarized the advances in EVT for pediatric CVST,aiming to provide insights for optimizing clinical management strategies.

Objective:To explore the differences in clinical phenotype characteristics and auxiliary test results of Gerstmann-Str?ussler-Scheinker syndrome (GSS) patients in the same family with GSS carrying a P102L mutation in the PRNP gene. Methods:A family with GSS carrying a P102L mutation in the PRNP gene, which was identified and treated at the Department of Neurology, Xuanwu Hospital, Capital Medical University in January 2024 was collected. A comprehensive evaluation was conducted on the proband, including neuropsychological examination, imaging studies, electroencephalogram, cerebrospinal fluid (CSF) analysis, real-time quaking-induced conversion (RT-QuIC) assay of skin biopsy samples, and genetic testing. At the same time, a survey and analysis were conducted on the family members. Skin RT-QuIC, genetic testing and neuropsychological evaluation were performed on some of the family members. Results:Among the 4-generation members of the GSS family, there were 5 GSS patients, including the proband′s father, younger brother, uncle and cousin. The proband, her younger brother and cousin all carried the P102L mutation in the PRNP gene, and her son was a carrier of the P102L mutation in the PRNP gene. The proband was a 53 years old female, and had a typical GSS phenotype, with the initial symptom of ataxia. The CSF 14-3-3 protein was negative and there were no abnormalities observed on her brain magnetic resonance imaging. The skin and CSF RT-QuIC test results of the proband were both negative. The cousin of the proband had a typical GSS phenotype, and his skin RT-QuIC test result was negative. The younger brother of the proband had a GSS phenotype of Creutzfeldt-Jakob disease type, with the initial symptom of rapidly progressing dementia and a positive skin RT-QuIC test result. The first symptoms of the proband′s father and uncle were both ataxia, and they had passed away without undergoing genetic testing. The son of the proband was a carrier of the P102L mutation in the PRNP gene and had no clinical symptoms. Conclusion:Different family members in the same GSS family may exhibit different clinical phenotypes, and GSS with different phenotypes have differences in RT-QuIC results.

Cerebral venous sinus thrombosis(CVST)is one of the significant causes of pediatric stroke.Its clinical manifestations are non-specific,including seizures,altered state of consciousness,and neurological deficits.It is usually associated with a high risk of mortality and disability.Although anticoagulation remains the first-line therapy of CVST in children,some children still experience poor prognosis.In recent years,endovascular treatment(EVT),such as mechanical thrombectomy and intrasinus thrombolysis,has emerged as a crucial therapeutic approach for CVST.This review summarized the advances in EVT for pediatric CVST,aiming to provide insights for optimizing clinical management strategies.

Objective:To explore the differences in clinical phenotype characteristics and auxiliary test results of Gerstmann-Str?ussler-Scheinker syndrome (GSS) patients in the same family with GSS carrying a P102L mutation in the PRNP gene. Methods:A family with GSS carrying a P102L mutation in the PRNP gene, which was identified and treated at the Department of Neurology, Xuanwu Hospital, Capital Medical University in January 2024 was collected. A comprehensive evaluation was conducted on the proband, including neuropsychological examination, imaging studies, electroencephalogram, cerebrospinal fluid (CSF) analysis, real-time quaking-induced conversion (RT-QuIC) assay of skin biopsy samples, and genetic testing. At the same time, a survey and analysis were conducted on the family members. Skin RT-QuIC, genetic testing and neuropsychological evaluation were performed on some of the family members. Results:Among the 4-generation members of the GSS family, there were 5 GSS patients, including the proband′s father, younger brother, uncle and cousin. The proband, her younger brother and cousin all carried the P102L mutation in the PRNP gene, and her son was a carrier of the P102L mutation in the PRNP gene. The proband was a 53 years old female, and had a typical GSS phenotype, with the initial symptom of ataxia. The CSF 14-3-3 protein was negative and there were no abnormalities observed on her brain magnetic resonance imaging. The skin and CSF RT-QuIC test results of the proband were both negative. The cousin of the proband had a typical GSS phenotype, and his skin RT-QuIC test result was negative. The younger brother of the proband had a GSS phenotype of Creutzfeldt-Jakob disease type, with the initial symptom of rapidly progressing dementia and a positive skin RT-QuIC test result. The first symptoms of the proband′s father and uncle were both ataxia, and they had passed away without undergoing genetic testing. The son of the proband was a carrier of the P102L mutation in the PRNP gene and had no clinical symptoms. Conclusion:Different family members in the same GSS family may exhibit different clinical phenotypes, and GSS with different phenotypes have differences in RT-QuIC results.

ObjectiveTo understand the situation about time interval between the onset and medical visit among tuberculosis patients in Huaibei City， Anhui Province from 2017 to 2021， and to determine the delayed medical visit and its risk factors， as to provide evidence for tuberculosis prevention and control. MethodsCase information of confirmed tuberculosis patients in Huaibei City in 2017‒2021 was collected from the tuberculosis management information system. Factors associated with time interval between the onset and medical visit were analyzed using rank sum test and multivariate linear regression. Furthermore， factors associated with the delayed medical visit were determined by Chi-square test， Chi-square Cocharan⁃Mantel⁃Haensze test and logistic regression. ResultsThe median time interval between the onset of tuberculosis and medical visit were 22 days among the tuberculosis patients in Huaibei City from 2017‒2021， and the proportion of delayed medical visit was 68.57%. There was an overall decreasing trend in the proportion of delayed medical visit over years （χtrend2=17.342， P=0.002）. Using the multivariate linear regression， positive for Mycobacterium Tuberculosis in the pathogenic diagnosis， and presence of comorbidities were determined to be the risk factors associated with increased time interval between the onset and medical visit. Furthermore， logistic regression analysis showed that patients aged ≤24 years （OR=0.596， 95%CI：0.503‒0.706， P<0.05）， 25‒ years （OR=0.667， 95%CI：0.559‒0.796， P<0.05）， 35‒ years （OR=0.762， 95%CI：0.613‒0.947， P<0.05）， and 45‒54 years （OR=0.838， 95%CI：0.711‒0.987， P<0.05） had significantly lower risk of delayed medical visit than those aged ≥ 55 years old group. Regarding the household registration status， non-local residents had lower risk of delayed medical visit than local residents （OR=0.838， 95%CI：0.732‒0.960， P<0.05）. ConclusionPositive for Mycobacterium tuberculosis in the pathogenic diagnosis， and presence of comorbidities were risk factors associated with increased time interval between the onset and medical visit. The proportion of delayed medical visit among tuberculosis patients in Huaibei City from 2017 to 2021 showed a decreasing trend over 5 years， and age ≥55 years old and local residents were risk factors associated with delayed medical visit.

Objective:Based on the framework of 5W1H analysis, to establish the continuous nursing project by delphi expert consultation method for children with congenital imperforate anus after discharge.Methods:This study is observational. Through the literature review, qualitative interview and group discussion to establish the expert correspondence questionnaire from April 2021 to March 2022. Delphi consultation was applied to experts for two rounds of expert consultation, to evaluate the initiative, authority and coordination of expert opinions.Results:Two rounds of expert consultation were carried out with 20 experts.The response rates of two rounds of expert questionnaires were 19/20 and 20/20 respectively, the expert authority coefficients were 0.873 and 0.893 respectively, and the Kendall′s coefficients were 0.311 and 0.405 respectively. The coordination of expert opinions was statistically significant ( P<0.05); After two rounds of expert consultation, it was finally determined that the continuing care plan for children with anal atresia included three first-level indicators (composition and responsibilities of continuing care personnel, implementation methods of continuing care, and implementation content of continuing care), 23 second-level indicators, and 46 third-level indicators. Conclusions:This study have high enthusiasm and authority of experts, and concentrated expert opinions on various indicators. The results are reliable, scientific and comprehensive, which will provide a basis for clinical medical staff to carry out the continuous nursing of children with congenital imperforate anus.

OBJECTIVE To prepare hyperoside mixed nanomicelles （Hyp-F127/TPGS） and optimize its preparation technology，and to investigate its intestinal absorption characteristics. METHODS Hyp-F127/TPGS was prepared by thin film dispersion method. Based on single factor test and Plackett-Burman design ，combined with Box-Behnken response surface method ， the preparation process was optimized and validated using entrapped efficiency （EE）and drug loading （DL）as evaluation indexes ， F127-TPGS mass ratio ，hydration time and the amount of Hyp as factors. The appearance and microscopic morphology of Hyp-F127/TPGS obtained by the optimal technology were observed ，and the particle size ，polydispersity index （PDI）and Zeta potential were also determined. The critical micelle concentration （CMC）of blank micelle （F127/TPGS），in vitro release behavior and preliminary stability of Hyp-F 127/TPGS were investigated ，and absorption characteristics of Hyp-F 127/TPGS were investigated by in situ unidirectional intestinal perfusion model. RESULTS The optimal preparation technology of Hyp-F 127/TPGS included F127-TPGS mass ratio of 2∶1，hydration time of 2 h，and Hyp amount of 9 mg. Results of three validation tests showed that the EE of Hyp-F 127/TPGS was （87.20±0.99）％，and the DL was （5.02±1.20）％，deviations from predicted values were 0.92％ and 2.39％. The micelles prepared by optimal technology were yellow ，clear and transparent solution ，with good Tyndall effect ；under transmission electron microscope ，they were spherical ，complete and evenly distributed ；the particle size was （15.02±0.16）nm， the PDI was 0.092±0.031，and the Zeta potential was （－6.67±1.47）mV. The CMC of F 127/TPGS was 21 μg/mL，Hyp-F127/ TPGS was stable after 4 weeks of storage at 4 ℃，and the cumulative release rates of Hyp-F 127/TPGS and Hyp control were （66.30±2.93）％（96 h）and（99.24±0.27）％（60 h），respectively. Hyp-F 127/TPGS and Hyp reference were absorbed in each intestinal segment ，and the main absorption sites were jejunum and duodenum respectively ；drug absorption rate constant andapparent absorption coefficient of the former were significantly higher than those of the latter （P＜0.05 or P＜0.01）. E-mail：zhangyuhangxz@163.com CONCLUSIONS The optimized preparation technology of Hyp-F127/TPGS is stable and feasible ；prepared Hyp-F 127/ TPGS shows a sustained -release effect ，which promotes the intestinal absorption of H yp to a certain extent.

Dysfunction of the Hippo pathway enables cells to evade contact inhibition and provides advantages for cancerous overgrowth. However, for a significant portion of human cancer, how Hippo signaling is perturbed remains unknown. To answer this question, we performed a genome-wide screening for genes that affect the Hippo pathway in Drosophila and cross-referenced the hit genes with human cancer genome. In our screen, Prosap was identified as a novel regulator of the Hippo pathway that potently affects tissue growth. Interestingly, a mammalian homolog of Prosap, SHANK2, is the most frequently amplified gene on 11q13, a major tumor amplicon in human cancer. Gene amplification profile in this 11q13 amplicon clearly indicates selective pressure for SHANK2 amplification. More importantly, across the human cancer genome, SHANK2 is the most frequently amplified gene that is not located within the Myc amplicon. Further studies in multiple human cell lines confirmed that SHANK2 overexpression causes deregulation of Hippo signaling through competitive binding for a LATS1 activator, and as a potential oncogene, SHANK2 promotes cellular transformation and tumor formation in vivo. In cancer cell lines with deregulated Hippo pathway, depletion of SHANK2 restores Hippo signaling and ceases cellular proliferation. Taken together, these results suggest that SHANK2 is an evolutionarily conserved Hippo pathway regulator, commonly amplified in human cancer and potently promotes cancer. Our study for the first time illustrated oncogenic function of SHANK2, one of the most frequently amplified gene in human cancer. Furthermore, given that in normal adult tissues, SHANK2's expression is largely restricted to the nervous system, SHANK2 may represent an interesting target for anticancer therapy.

Objective:To investigate the correlation between the distribution of traditional Chinese Medicine (TCM) constitution and the syndrome of TCM and the performance under gastroscope in patients with hiatal hernia(HH).Methods:A total of 300 HH patients diagnosed in the Department of Gastroenterology, the Second Affiliated Hospital of Shandong University of TCM from January 2016 to December 2018 were enrolled in this study.The clinical information was collected to complete TCM constitution, TCM syndrome type and gastroscopic performance classification.Results:The composition ratio of TCM constitution in 300 patients with HH was not exactly the same(χ 2=88.140, P<0.05). From high to low, the order was: Qi stagnation(58 cases), Qi deficiency(56 cases), damp heat(51 cases), phlegm dampness(45 cases), Yang deficiency(27 cases), Yin deficiency(21 cases), peace(17 cases), blood quality(17 cases), special quality(8 cases). There was a significant attribute association between TCM syndrome type and TCM constitution classification(χ 2=129.753, P<0.05), among which: the syndrome of liver and stomach stagnation heat corresponded to damp heat and Yin deficiency; the syndrome of spleen and stomach dampness heat corresponded to phlegm dampness syndrome; the syndrome of spleen and stomach deficiency cold corresponded to Yang deficiency and Qi deficiency; the syndrome of Qi stagnation and phlegm corresponded to blood sputum and Qi stagnation; Qi deficiency and blood stasis syndrome corresponded to Qi deficiency.There was significant attribute association between gastroscopic performance and TCM constitution(χ 2=123.189, P<0.05), among which: no esophagitis corresponded to Yang deficiency, Qi deficiency, peace and phlegm dampness; the grade A reflux esophagitis corresponded to the dampness heat and the Qi stagnation; the grade B corresponded to the dampness heat and the Qi stagnation, the grade C had no obvious correspondence, the grade D corresponded to the Yin deficiency. Conclusion:The TCM constitution of HH patients is mainly characterized by Qi stagnation, Qi deficiency, damp heat and phlegm dampness, and there is a significant correlation between constitution classification and TCM syndromes type and gastroscopic performance.

Objective:To study the efficacy and safety of CT guided percutaneous transhepatic microwave ablation (PTPMWA) for primary liver cancer (PLC) in liver segment 9.Methods:A retrospective study was conducted on PLC patients between October 2013 and March 2019 at Dongguan People’s Hospital, Southern Medical University. Of 41 patients who entered into the study, there were 36 males and 5 females, with an average age of 59.1 years. These patients were diagnosed to have PLC in segment 9. The surgical related data and follow-up results were collected and analyzed.Results:All patients enrolled in the study completed the treatment procedure. CT scan was performed immediately after ablation which showed that the tumor areas to be completely covered by ablation. The duration of operation ranged from 45 to 260 (mean 91) min. The amount of bleeding during treatment was 1.0 to 5.0 (mean 1.4) ml. The complete response rate was 97.6% (40 patients) and the partial response rate was 2.4% (1 patient). The cumulative survival rates at 1, 2, 3, 4 and 5 years were 95.1%, 85.4%, 75.3%, 45.2% and 45.2%, respectively. Only 4 patients (9.8%) developed recurrence after treatment. The timings of recurrence were 1, 6, 13 and 67 months after treatment, respectively. The recurrent lesions were ablated again and complete response was obtained in all patients. There were no serious problems related to complications from ablation. The rate of postoperative complication was 7.3% (3 patients).Conclusion:PTPMWA is a novel treatment for patients with PLC in liver segment 9, the advantages of this treatment include good safety, high efficacy, low complications and local recurrence. The treatment is worthy of further future studies.