1.Establishment of quality control system for disease prevention and control of People's Liberation Army
Zhiping LIU ; Liuyu HUANG ; Yansong SUN ; Hong JIA
Chinese Journal of Medical Science Research Management 2011;24(1):20-21,34
Based on the work characteristics of disease and control of People's Liberation Army (PLA), the paper discusses the establishment of quality control system at Institute of Disease and Control of PLA and the subsequent effects. This could provide some reference for improvement disease control of PLA.
2.Clinical and genetic analysis of a child with co-morbid progressive IgA nephropathy and COQ8B-associated glomerulopathy
Liuyu SUN ; Huijie XIAO ; Yali REN ; Ke XU ; Xuhui ZHONG ; Hongwen ZHANG ; Yuegui ZENG ; Fang WANG
Chinese Journal of Medical Genetics 2024;41(10):1231-1237
Objective:To explore the genetic etiology and clinical outcome of a child with co-morbid progressive IgA nephropathy and COQ8B-associated glomerulopathy. Methods:A child who was admitted to Peking University First Hospital on March 2, 2021 was selected as the study subject. Genomic DNA was extracted from peripheral blood samples from the child and his parents and sister. Whole exome sequencing was carried out, and candidate variant was verified by Sanger sequencing. This study was approved by Medical Ethics Committee of the Peking University First Hospital (Ethics No. 2016[1029]).Results:The child, a 7-year-old boy who had developed proteinuria 8 months before, was diagnosed with IgA nephropathy (M1E1S1T1C1). With steroid, cyclophosphamide, cyclosporine and angiotensin-converting enzyme inhibitor therapy, partial remission of proteinuria was achieved. However, his serum creatinine level had increased from 53.8 mol/L at the onset of disease to 86.7 mol/L after 3.9 years, along with massive proteinuria. Kidney biopsy still indicated IgA nephropathy (M0E0S1T0C0). The child was found to harbor a homozygous c. 737G>A (p.Ser246Asn) missense variant of the COQ8B gene, for which his parents and sister were heterozygous carriers. The variant was predicted to be pathogenic (PS1+ PM2_Supporting+ PM3+ PP3+ PP4) based on the guidelines from the American College of Medical Genetics and Genomics. The child was treated with high-dose coenzyme Q10 in combination with steroid and/or mycophenolate mofetil, though his serum creatinine level still increased to 286 mol/L after 7.3 years, which conformed to a chronic kidney disorder with glomerular filtration rate category of G3b. Conclusion:The homozygous c.737G>A missense variants of the COQ8B gene probably underlay the progressive kidney dysfunction in this child. For children with IgA nephropathy presenting with atypical clinical manifestations, unsatisfactory therapeutic effect, and/or early onset of kidney function decline, coexistence of other diseases should be suspected.
3.Clinical characteristics of 272 437 patients with different histopathological subtypes of primary esophageal malignant tumors
Lidong WANG ; Liuyu LI ; Xin SONG ; Xueke ZHAO ; Fuyou ZHOU ; Ruihua XU ; Zhicai LIU ; Aili LI ; Jilin LI ; Xianzeng WANG ; Liguo ZHANG ; Fangheng ZHU ; Xuemin LI ; Weixing ZHAO ; Guizhou GUO ; Wenjun GAO ; Xiumin LI ; Lixin WAN ; Jianwei KU ; Quanxiao XU ; Fuguo ZHU ; Aifang JI ; Huixiang LI ; Jingli REN ; Shengli ZHOU ; Peinan CHEN ; Qide BAO ; Shegan GAO ; Haijun YANG ; Jinchang WEI ; Weimin MAO ; Zhanqiang HAN ; Zhiwei CHANG ; Yingfa ZHOU ; Xuena HAN ; Wenli HAN ; Lingling LEI ; Zongmin FAN ; Ran WANG ; Yuanze YANG ; Jiajia JI ; Yao CHEN ; Zhiqiang LI ; Jingfeng HU ; Lin SUN ; Yajie CHEN ; Helin BAI ; Duo YOU
Chinese Journal of Internal Medicine 2022;61(9):1023-1030
Objective:To characterize the histopathological subtypes and their clinicopathological parameters of gender and onset age by common, rare and sparse primary esophageal malignant tumors (PEMT).Methods:A total of 272 437 patients with PEMT were enrolled in this study, and all of the patients were received radical surgery. The clinicopathological information of the patients was obtained from the database established by the State Key Laboratory of Esophageal Cancer Prevention & Treatment from September 1973 to December 2020, which included the clinical treatment, pathological diagnosis and follow-up information of esophagus and gastric cardia cancers. All patients were diagnosed and classified by the criteria of esophageal tumor histopathological diagnosis and classification (2019) of the World Health Organization (WHO). The esophageal tumors, which were not included in the WHO classification, were analyzed separately according to the postoperative pathological diagnosis. The χ 2 test was performed by the SPSS 25.0 software on count data, and the test standard α=0.05. Results:A total of 32 histopathological types were identified in the enrolled PEMT patients, of which 10 subtypes were not included in the WHO classification. According to the frequency, PEMT were divided into common (esophageal squamous cell carcinoma, ESCC, accounting for 97.1%), rare (esophageal adenocarcinoma, EAC, accounting for 2.3%) and sparse (mainly esophageal small cell carcinoma, malignant melanoma, etc., accounting for 0.6%). All the common, rare, and sparse types occurred predominantly in male patients, and the gender difference of rare type was most significant (EAC, male∶ female, 2.67∶1), followed with common type (ESCC, male∶ female, 1.78∶1) and sparse type (male∶ female, 1.71∶1). The common type (ESCC) mainly occurred in the middle thoracic segment (65.2%), while the rare type (EAC) mainly occurred in the lower thoracic segment (56.8%). Among the sparse type, malignant melanoma and malignant fibrous histiocytoma were both predominantly located in the lower thoracic segment (51.7%, 66.7%), and the others were mainly in the middle thoracic segment.Conclusion:ESCC is the most common type among the 32 histopathological types of PEMT, followed by EAC as the rare type, and esophageal small cell carcinoma and malignant melanoma as the major sparse type, and all of which are mainly occur in male patients. The common type of ESCC mainly occur in the middle thoracic segment, while the rare type of EAC mainly in the lower thoracic segment. The mainly sparse type of malignant melanoma and malignant fibrous histiocytoma predominately occur in the lower thoracic segment, and the remaining sparse types mainly occur in the middle thoracic segment.