1.Research advances in the disease burden of viral hepatitis in China
Jian LI ; Fuzhen WANG ; Zhongdan CHEN ; Jinlei QI ; Ailing WANG ; Fanghui ZHAO ; Yuanyuan KONG ; Jing SUN ; Jiaqi KANG ; Zundong YIN ; Zhongfu LIU ; Jidong JIA ; Yu WANG
Journal of Clinical Hepatology 2025;41(2):221-227
Over the past three decades, China has made significant progress in the prevention and control of viral hepatitis, and the incidence rates of new-onset pediatric hepatitis B virus infections and acute viral hepatitis in the population have reduced to a relatively low level; however, there is still a heavy disease burden of chronic viral hepatitis in China, which severely affects the health status of the population. This study systematically summarizes the achievements of viral hepatitis prevention and control in China, analyzes existing problems and challenges, and proposes comprehensive prevention and control strategies and measures to eliminate viral hepatitis as a public health threat based on the national conditions of China, in order to provide a reference for related departments in China on how to achieve the action targets for eliminating viral hepatitis as a public health threat by 2030.
2.Study of a family with different phenotypes of Gerstmann-Str?ussler-Scheinker syndrome
Yihao WANG ; Zhongyun CHEN ; Yu KONG ; Ailing YUE ; Deming JIANG ; Min CHU ; Liyong WU ; Hong YE
Chinese Journal of Neurology 2025;58(2):161-168
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.
3.Study of a family with different phenotypes of Gerstmann-Str?ussler-Scheinker syndrome
Yihao WANG ; Zhongyun CHEN ; Yu KONG ; Ailing YUE ; Deming JIANG ; Min CHU ; Liyong WU ; Hong YE
Chinese Journal of Neurology 2025;58(2):161-168
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.
4.Construction and application of traditional chinese medicine evidence-based big data platform
Qiao GENG ; Ailing YIN ; Yi FU ; Xiaosu ZHANG ; Zhimin FAN ; Desong KONG
Modern Hospital 2024;24(9):1435-1438
Objective Build an evidence-based big data governance platform centered around intelligent Traditional Chi-nese Medicine(TCM),incorporating TCM characteristics,to promote the development of intelligent TCM healthcare,and en-hance the efficiency of medical research and practical applications..Methods We integrate hospital TCM diagnosis and treat-ment process data and other kinds of clinical data..And we employ artificial intelligence and big data technologies to effectively clean and standardize the data,among other data governance and data preparation tasks,in order to build a Chinese Medicine Clinical Data Center System.Results The platform has achieved the collection and governance of millions of real medical re-cords,providing strong support for health management and clinical research in TCM,particularly promoting research in TCM's syndrome differentiation and treatment,prescription research,and drug reactions.Conclusion By constructing a big data gov-ernance platform based on Traditional Chinese Medicine(TCM),we have achieved value-added effective management and utili-zation of TCM data,particularly enhancing the precision of TCM diagnosis and treatment and the speed of research output,thus driving the modernization process of TCM.
5.Genetic analysis of an infant with duplication of 22q12.1-q13.3.
Rui LI ; Ailing WANG ; Jianhong WANG ; Panlai SHI ; Yufei MA ; Xiangdong KONG
Chinese Journal of Medical Genetics 2020;37(5):555-558
OBJECTIVE:
To explore the genetic basis for an infant with multiple malformations including congenital heart disease and cleft palate.
METHODS:
The child and his parents were subjected to conventional chromosomal karyotyping and low-coverage massively parallel copy number variation sequencing (CNV-seq) analysis.
RESULTS:
The infant was found to have a 46,X,add(Y)(q11.23) karyotype, and his CNV-seq result was seq [hg19] 22q12.1q13.3 (29 520 001-51 180 000)× 3. His parents were found to be normal by both methods.
CONCLUSION
The additional chromosomal material found on Yq, verified as duplication of 22q12.1-q13.3, may account for the abnormal phenotype in this infant. CNV-seq has provided a useful complement for the diagnosis and more accurate information for genetic counseling.
Abnormalities, Multiple
;
genetics
;
Child
;
Chromosome Duplication
;
Chromosomes, Human, Pair 22
;
genetics
;
Cleft Palate
;
genetics
;
DNA Copy Number Variations
;
Genetic Testing
;
Heart Defects, Congenital
;
genetics
;
Humans
;
Infant
;
Karyotyping
6.Nursing cooperation of ERCP interventional therapy in elderly patients
Ailing YU ; Jing LIU ; Qingyun KONG ; Guozhen ZHU
Chinese Journal of Modern Nursing 2016;22(27):3977-3979
Objective To explore the therapeutic effect and nursing revelation of ERCP interventional therapy in biliary lithotripsy, biliary stone extraction, and stent placement. Methods We reviewed nursing cooperation of 18 elderly patients with ERCP surgery, and summarized the matters needing attention and nursing revelation of ERCP treatment in elderly patients. Results 13 cases were successfully in 18 elderly patients treated with ERCP, 4 cases of stents placement were successful, and 1 case of failure.Conclusions With the improvement of scientific and technological level and nursing cooperation, strengthening safety measures is the key to the success of ERCP intervention in the treatment of elderly urgent patients.
7.Propofol terminates ventricular fibrillation storm caused by pulmonary embolism.
Jiang HONG ; Mengdan XU ; Ailing KONG ; Qiang LIU ; Rong CHEN ; Qiuyan DAI ; Lexin WANG ; Baogui SUN
Chinese Medical Journal 2014;127(21):3840-3840

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