1.A novel mutation in the SEDL gene leading to X-linked spondyloepiphyseal dysplasia tarda in a large Chinese pedigree.
Ying LIN ; Shao-qin RAO ; Yang YANG
Chinese Journal of Medical Genetics 2008;25(2):150-153
OBJECTIVETo identify the genetic defect in a four-generation pedigree with X-linked recessive spondyloepiphyseal dysplasia tarda (SEDT) from Southwest China.
METHODSLinkage analysis with one panel of fluorescently labeled microsatellite markers on chromosome X and mutation screening of SEDL gene by direct sequencing were performed.
RESULTSLinkage between SEDT and Xp22.2-Xp23.1 was established with maximum LOD score of 3.82 (theta = 0) between DXS987 and DXS8051. Upon sequence analysis, a point mutation within exon 4 of the SEDL gene (c.239A to G) was found which resulted in substitution of histidine with arginine at codon 80 (His80Arg).
CONCLUSIONA novel missense mutation (H80R) was identified for SEDL gene in the large Chinese SEDT pedigree.
Adolescent ; Adult ; Asian Continental Ancestry Group ; genetics ; DNA Mutational Analysis ; Female ; Genetic Diseases, X-Linked ; genetics ; pathology ; Genetic Linkage ; genetics ; Humans ; Male ; Membrane Transport Proteins ; genetics ; Mutation ; Mutation, Missense ; genetics ; Osteochondrodysplasias ; genetics ; pathology ; Pedigree ; Transcription Factors ; genetics
2.Application of performance management in the role of high quality nursing
Shen-Qin DONG ; Xiao-Qing SHAO ; Chun-Yan JIN ; Rong SUN ; Wen-Wen RAO ; Jie-Qiong HAN
Chinese Journal of Modern Nursing 2012;18(16):1933-1935
Objective To explore the application of nursing performance distribution system in high quality of nursing care so as to improve the job enthusiasm of nursing staff and improve the quality of nursing work in hospital.Methods Nursing performance distribution system was implemented in the high quality nursing units,then,the satisfaction of patients and doctors on the nursing care,the quality of nursing,nursing errors occurrence were compared before after the nursing performance distribution system was implemented.Results After the implementation of performance appraisal system,the quality of nursing work was significantly improved,that compared with the performance distribution system not implemented [(96.38 ± 0.91 ) vs (92.36 ±0.72),(98.26 ±0.90) vs (90.38 ±0.75),(97.39 ±0.93) vs (89.26 ±0.76),(98.69 ±0.96)vs (91.57±0.78),(97.28±0.74) vs (89.93 ±0.76),(98.57 ±0.98) vs (91.23 ±0.78),(99.26 ±0.93)vs (91.38 ± 0.79 );t =36.647,90.990,82.833,10.910,636.529,60.461,13.177,respectively;P < 0.05 ) ].And the satisfaction of patients and doctors on nursing care both was significantly improved ( P < 0.05 ),nursing errors occurrence was significantly reduced after the performance appraisal system implemented ( x2 =0.845,P < 0.05 ).Conclusions Nursing performance distribution system implementing into the quality of nursing care management reflect the principle of good payment for good work,payment according to work,and it is a scientific and efficient management mode for nursing management.Performance assossment can ensure the stability and continuity of quality improvement.
3.Follicular dendritic cell sarcoma: a clinicopathologic analysis of ten cases.
Wei-hua YIN ; Guang-yin YU ; Ya MA ; Hui-lan RAO ; Su-xia LIN ; Chun-kui SHAO ; Qiong LIANG ; Na GUO ; Guo-qin CHEN ; Wei ZHOU ; Tong ZHAO ; Mei-gang ZHU
Chinese Journal of Pathology 2010;39(8):522-527
OBJECTIVETo study the clinicopathologic features of follicular dendritic cell sarcoma (FDCS) and its differential diagnosis.
METHODSTen cases of FDCS were studied by light microscopy, immunohistochemistry and in-situ hybridization. The clinical features and follow-up information were analyzed.
RESULTSAmongst the 10 cases of FDCS studied, the male-to-female ratio was 1:1. The mean age of the patients was 42 years. Six of them were located in cervical and peritoneal lymph nodes and four in extranodal sites (including tonsil, pelvic cavity, tail of pancreas and spleen). Histologically, the tumor cells had whorled, storiform or diffuse growth patterns. They were spindle in shape and contained syncytial eosinophilic cytoplasm, with round or oval nuclei, vesicular chromatin, distinct nucleoli and a variable number of mitotic figures. Multinucleated tumor giant cells and intranuclear pseudoinclusions were occasionally seen. There was a sprinkling of small lymphocytes and neutrophils within the tumor as well as in the perivascular region. Immunohistochemical study showed that the tumor cells were diffusely or focally positive for CD21, CD23, CD35 and D2-40, but negative for LCA, CD20, CD3, CD1a, HMB45 and CK. Some of them showed EMA, CD68 and S-100 reactivity. In-situ hybridization for Epstein-Barr virus-encoded RNA (EBER) showed positive signals in only one case (which was diagnosed as inflammatory pseudotumor-like FDCS). Of the 7 patients with follow-up information available (duration: 2 months to 39 months; mean: 14 months), 2 cases with paraneoplastic pemphigus died of pulmonary infection at 5 and 7 months respectively. The remaining 5 patients were alive and disease-free after surgical excision (+/- chemotherapy and radiotherapy).
CONCLUSIONSFDCS is a rare low to intermediate-grade malignant tumor. Appropriate application of FDC markers, such as CD21, CD35 and D2-40, would be helpful for arriving at a correct diagnosis. Most cases are associated with good prognosis after surgical treatment, with or without chemotherapy and radiotherapy. Patients with paraneoplastic pemphigus carry a less favorable prognosis.
Adult ; Antibodies, Monoclonal, Murine-Derived ; metabolism ; Dendritic Cell Sarcoma, Follicular ; complications ; metabolism ; pathology ; surgery ; Dendritic Cell Sarcoma, Interdigitating ; pathology ; Diagnosis, Differential ; Female ; Follow-Up Studies ; Humans ; Lymph Node Excision ; Lymph Nodes ; pathology ; surgery ; Male ; Meningioma ; pathology ; Middle Aged ; Nasopharyngeal Neoplasms ; pathology ; Paraneoplastic Syndromes ; complications ; Pemphigus ; complications ; Receptors, Complement 3b ; metabolism ; Receptors, Complement 3d ; metabolism ; Receptors, IgE ; metabolism ; Tonsillar Neoplasms ; metabolism ; pathology ; surgery ; Young Adult
4.Expression of DNA Damage Response Proteins and Associations with Clinicopathologic Characteristics in Chinese Familial Breast Cancer Patients with BRCA1/2 Mutations.
Xinyi ZHU ; Tian TIAN ; Miao RUAN ; Jia RAO ; Wentao YANG ; Xu CAI ; Menghong SUN ; Guangqi QIN ; Zhonghua ZHAO ; Jiong WU ; Zhimin SHAO ; Ruohong SHUI ; Zhen HU
Journal of Breast Cancer 2018;21(3):297-305
PURPOSE: The characteristic expression of DNA damage response proteins in familial breast cancers with BRCA1, BRCA2, or non-BRCA1/2 mutations has not been analyzed in Chinese patients. Our study aimed to assess the differential expression of microcephalin 1 (BRIT1), ATM serine/threonine kinase (ATM), checkpoint kinase 2 (CHEK2), BRCA1, RAD51 recombinase (RAD51), and poly (ADP-ribose) polymerase 1 (PARP-1) and establish the profile of Chinese familial breast cancers with different mutation status. METHODS: We constructed five tissue microarrays from 183 familial breast cancer patients (31 with BRCA1 mutations; 14 with BRCA2 mutations, and 138 with non-BRCA1/2 mutations). The DNA response and repair markers used for immunohistochemistry analysis included BRIT1, ATM, CHEK2, BRCA1, RAD51, and PARP-1. The expressions of these proteins were analyzed in BRCA1/2 mutated tumors. The association between pathologic characteristics with BRCA1/2 mutation status was also analyzed. RESULTS: In familial breast cancer patients, BRCA1 mutated tumors were more frequent with high nuclear grade, estrogen receptor/progesterone receptor/human epidermal growth factor receptor 2 negative, low Ki-67, and positive CK5/6. BRCA1 mutated tumors had lower CHEK2 and higher cytoplasmic BRIT1 expression than BRCA2 and non-BRCA1/2 mutation tumors. BRCA2-associated tumors showed higher CHEK2 and cytoplasmic RAD51 expression than those in other groups. Nuclear PARP-1 expression in BRCA1/2-associated tumors was significantly higher than in non-BRCA1/2 mutation tumors. Moreover, we found quite a few of negative PARP-1 expression cases in BRCA1/2 mutated groups. CONCLUSION: The clinicopathologic findings of BRCA1-associated Chinese familial breast cancers were similar to the results of other studies. Chinese familial breast cancer patients with BRCA1/2 mutations might have distinctive expression of different DNA damage response proteins. The reduced expression of PARP-1 in Chinese BRCA1/2 mutated breast cancer patients could influence the therapeutic outcome of PARP-1 inhibitors.
Asian Continental Ancestry Group*
;
Breast Neoplasms*
;
Breast*
;
Checkpoint Kinase 2
;
Cytoplasm
;
DNA Damage*
;
DNA Repair
;
DNA*
;
Estrogens
;
Genes, BRCA1
;
Genes, BRCA2
;
Humans
;
Immunohistochemistry
;
Phosphotransferases
;
Rad51 Recombinase
;
Receptor, Epidermal Growth Factor
5.Identification of Risk Pathways and Functional Modules for Coronary Artery Disease Based on Genome-wide SNP Data
Zhao XIANG ; Luan YI-ZHAO ; Zuo XIAOYU ; Chen YE-DA ; Qin JIHENG ; Jin LV ; Tan YIQING ; Lin MEIHUA ; Zhang NAIZUN ; Liang YAN ; Rao SHAO-QI
Genomics, Proteomics & Bioinformatics 2016;14(6):349-357
Coronary artery disease (CAD) is a complex human disease, involving multiple genes and their nonlinear interactions, which often act in a modular fashion. Genome-wide single nucleotide polymorphism (SNP) profiling provides an effective technique to unravel these underlying genetic interplays or their functional involvements for CAD. This study aimed to identify the susceptible pathways and modules for CAD based on SNP omics. First, the Wellcome Trust Case Control Consortium (WTCCC) SNP datasets of CAD and control samples were used to assess the joint effect of multiple genetic variants at the pathway level, using logistic kernel machine regression model. Then, an expanded genetic network was constructed by integrating statistical gene–gene interactions involved in these susceptible pathways with their protein–protein interaction (PPI) knowledge. Finally, risk functional modules were identified by decomposition of the network. Of 276 KEGG pathways analyzed, 6 pathways were found to have a significant effect on CAD. Other than glycerolipid metabolism, glycosaminoglycan biosynthesis, and cardiac muscle contraction pathways, three pathways related to other diseases were also revealed, including Alzheimer’s disease, non-alcoholic fatty liver disease, and Huntington’s disease. A genetic epistatic network of 95 genes was further constructed using the abovementioned integrative approach. Of 10 functional modules derived from the network, 6 have been annotated to phospholipase C activity and cell adhesion molecule binding, which also have known functional involvement in Alzheimer’s disease. These findings indicate an overlap of the underlying molecular mechanisms between CAD and Alzheimer’s disease, thus providing new insights into the molecular basis for CAD and its molecular relationships with other diseases.
6.Surgical treatment of primary liver cancer:a report of 10 966 cases
Yongxiang XIA ; Feng ZHANG ; Xiangcheng LI ; Lianbao KONG ; Hui ZHANG ; Donghua LI ; Feng CHENG ; Liyong PU ; Chuanyong ZHANG ; Xiaofeng QIAN ; Ping WANG ; Ke WANG ; Zhengshan WU ; Ling LYU ; Jianhua RAO ; Xiaofeng WU ; Aihua YAO ; Wenyu SHAO ; Ye FAN ; Wei YOU ; Xinzheng DAI ; Jianjie QIN ; Menyun LI ; Qin ZHU ; Xuehao WANG
Chinese Journal of Surgery 2021;59(1):6-17
Objective:To summarize the experience of surgical treatment of primary liver cancer.Methods:The clinical data of 10 966 surgically managed cases with primary liver cancer, from January 1986 to December 2019 at Hepatobiliary Center, the First Affiliated Hospital of Nanjing Medical University, were retrospectively analyzed. The life table method was used to calculate the survival rate and postoperative recurrence rate. Log‐rank test was used to compare the survival process of different groups, and the Cox regression model was used for multivariate analysis. In addition, 2 884 cases of hepatocellular carcinoma(HCC) with more detailed follow‐up data from 2009 to 2019 were selected for survival analysis. Among 2 549 patients treated with hepatectomy, there were 2 107 males and 442 females, with an age of (56.6±11.1) years (range: 20 to 86 years). Among 335 patients treated with liver transplantation, there were 292 males and 43 females, with an age of (51.0±9.7) years (range: 21 to 73 years). The outcomes of hepatectomy versus liver transplantation, anatomic versus non-anatomic hepatectomy were compared, respectively.Results:Of the 10 966 patients with primary liver cancer, 10 331 patients underwent hepatectomy and 635 patients underwent liver transplantation. Patients with liver resection were categorized into three groups: 1986-1995(712 cases), 1996-2008(3 988 cases), 2009?2019(5 631 cases). The 5‐year overall survival rate was 32.9% in the first group(1986-1995). The 5‐year overall survival rate of resected primary liver cancer was 51.7% in the third group(2009‐2019), among which the 5‐year overal survival rates of hepatocellular carcinoma, intrahepatic cholangiocarcinoma and mixed liver cancer were 57.4%, 26.6% and 50.6%, respectively. Further analysis was performed on 2 549 HCC patients with primary hepatectomy. The 1‐, 3‐, 5‐, and 10‐year overall survival rates were 88.1%, 71.9%, 60.0%, and 41.0%, respectively, and the perioperative mortality rate was 1.0%. Two hundred and forty‐seven HCC patients underwent primary liver transplantation, with 1‐, 3‐, 5‐, and 10‐year overall survival rates of 84.0%, 64.8%, 61.9%, and 57.6%, respectively. Eighty‐eight HCC patients underwent salvage liver transplantation, with the 1‐, 3‐, 5‐, and 10‐year overall survival rates of 86.8%, 65.2%, 52.5%, and 52.5%, respectively. There was no significant difference in survival rates between the two groups with liver transplantation ( P>0.05). Comparing the overall survival rates and recurrence rates of primary hepatectomy (2 549 cases) with primary liver transplantation (247 cases), the 1‐, 3‐, 5‐, and 10‐year overall survival rates in patients within Milan criteria treated with hepatectomy and transplantation were 96.3%, 87.1%, 76.9%, 54.7%, and 95.4%, 79.4%, 77.4%, 71.7%, respectively ( P=0.754). The 1‐, 3‐, 5‐year recurrence rates were 16.3%, 35.9%, 47.6% and 8.1%, 11.7%, 13.9%, respectively( P<0.01). The 1‐, 3‐, 5‐, 10‐year overall survival rates in patients with no large vessels invasion beyond the Milan criteria treated with liver resection and transplantation were 87.2%, 65.9%, 53.0%, 33.0% and 87.6%, 71.8%, 71.8%, 69.3%, respectively( P=0.003); the 1‐, 3‐, 5‐year recurrence rate were 39.2%, 57.8%, 69.7% and 29.7%, 36.7%, 36.7%, respectively ( P<0.01). The 1‐, 3‐, 5‐, and 10‐year overall survival rates in patients with large vessels invasion treated with liver resection and transplantation were 62.1%, 36.1%, 22.2%, 15.0% and 62.9%, 31.8%,19.9%, 0, respectively ( P=0.387); the 1‐, 3‐, 5‐year recurrence rates were 61.5%, 74.7%, 80.8% and 59.7%, 82.9%, 87.2%, respectively( P=0.909). Independent prognostic factors for both overall survival and recurrence‐free survival rates of HCC patients treated with liver resection included gender, neoadjuvant therapy, symptoms, AST, intraoperative or postoperative blood transfusion, tumor number, tumor size, cirrhosis, macrovascular invasion, microvascular invasion, and pathological differentiation. Propensity score matching analysis of 443 pairs further showed that there was no significant difference in overall survival rate between anatomical liver resection and non‐anatomical liver resection( P=0.895), but the recurrence rate of non‐anatomical liver resection was higher than that of anatomical liver resection( P=0.035). Conclusions:In the past decade, the overall survival rate of HCC undergoing surgical treatment is significantly higher than before. For HCC patients with good liver function reservation, surgical resection can be performed first, and salvage liver transplantation can be performed after recurrence. The effect of salvage liver transplantation is comparable to that of primary liver transplantation. As for the choice of liver resection approaches, non‐anatomical resection can reserve more liver tissue and can be selected as long as the negative margin is guaranteed.
7.Surgical treatment of primary liver cancer:a report of 10 966 cases
Yongxiang XIA ; Feng ZHANG ; Xiangcheng LI ; Lianbao KONG ; Hui ZHANG ; Donghua LI ; Feng CHENG ; Liyong PU ; Chuanyong ZHANG ; Xiaofeng QIAN ; Ping WANG ; Ke WANG ; Zhengshan WU ; Ling LYU ; Jianhua RAO ; Xiaofeng WU ; Aihua YAO ; Wenyu SHAO ; Ye FAN ; Wei YOU ; Xinzheng DAI ; Jianjie QIN ; Menyun LI ; Qin ZHU ; Xuehao WANG
Chinese Journal of Surgery 2021;59(1):6-17
Objective:To summarize the experience of surgical treatment of primary liver cancer.Methods:The clinical data of 10 966 surgically managed cases with primary liver cancer, from January 1986 to December 2019 at Hepatobiliary Center, the First Affiliated Hospital of Nanjing Medical University, were retrospectively analyzed. The life table method was used to calculate the survival rate and postoperative recurrence rate. Log‐rank test was used to compare the survival process of different groups, and the Cox regression model was used for multivariate analysis. In addition, 2 884 cases of hepatocellular carcinoma(HCC) with more detailed follow‐up data from 2009 to 2019 were selected for survival analysis. Among 2 549 patients treated with hepatectomy, there were 2 107 males and 442 females, with an age of (56.6±11.1) years (range: 20 to 86 years). Among 335 patients treated with liver transplantation, there were 292 males and 43 females, with an age of (51.0±9.7) years (range: 21 to 73 years). The outcomes of hepatectomy versus liver transplantation, anatomic versus non-anatomic hepatectomy were compared, respectively.Results:Of the 10 966 patients with primary liver cancer, 10 331 patients underwent hepatectomy and 635 patients underwent liver transplantation. Patients with liver resection were categorized into three groups: 1986-1995(712 cases), 1996-2008(3 988 cases), 2009?2019(5 631 cases). The 5‐year overall survival rate was 32.9% in the first group(1986-1995). The 5‐year overall survival rate of resected primary liver cancer was 51.7% in the third group(2009‐2019), among which the 5‐year overal survival rates of hepatocellular carcinoma, intrahepatic cholangiocarcinoma and mixed liver cancer were 57.4%, 26.6% and 50.6%, respectively. Further analysis was performed on 2 549 HCC patients with primary hepatectomy. The 1‐, 3‐, 5‐, and 10‐year overall survival rates were 88.1%, 71.9%, 60.0%, and 41.0%, respectively, and the perioperative mortality rate was 1.0%. Two hundred and forty‐seven HCC patients underwent primary liver transplantation, with 1‐, 3‐, 5‐, and 10‐year overall survival rates of 84.0%, 64.8%, 61.9%, and 57.6%, respectively. Eighty‐eight HCC patients underwent salvage liver transplantation, with the 1‐, 3‐, 5‐, and 10‐year overall survival rates of 86.8%, 65.2%, 52.5%, and 52.5%, respectively. There was no significant difference in survival rates between the two groups with liver transplantation ( P>0.05). Comparing the overall survival rates and recurrence rates of primary hepatectomy (2 549 cases) with primary liver transplantation (247 cases), the 1‐, 3‐, 5‐, and 10‐year overall survival rates in patients within Milan criteria treated with hepatectomy and transplantation were 96.3%, 87.1%, 76.9%, 54.7%, and 95.4%, 79.4%, 77.4%, 71.7%, respectively ( P=0.754). The 1‐, 3‐, 5‐year recurrence rates were 16.3%, 35.9%, 47.6% and 8.1%, 11.7%, 13.9%, respectively( P<0.01). The 1‐, 3‐, 5‐, 10‐year overall survival rates in patients with no large vessels invasion beyond the Milan criteria treated with liver resection and transplantation were 87.2%, 65.9%, 53.0%, 33.0% and 87.6%, 71.8%, 71.8%, 69.3%, respectively( P=0.003); the 1‐, 3‐, 5‐year recurrence rate were 39.2%, 57.8%, 69.7% and 29.7%, 36.7%, 36.7%, respectively ( P<0.01). The 1‐, 3‐, 5‐, and 10‐year overall survival rates in patients with large vessels invasion treated with liver resection and transplantation were 62.1%, 36.1%, 22.2%, 15.0% and 62.9%, 31.8%,19.9%, 0, respectively ( P=0.387); the 1‐, 3‐, 5‐year recurrence rates were 61.5%, 74.7%, 80.8% and 59.7%, 82.9%, 87.2%, respectively( P=0.909). Independent prognostic factors for both overall survival and recurrence‐free survival rates of HCC patients treated with liver resection included gender, neoadjuvant therapy, symptoms, AST, intraoperative or postoperative blood transfusion, tumor number, tumor size, cirrhosis, macrovascular invasion, microvascular invasion, and pathological differentiation. Propensity score matching analysis of 443 pairs further showed that there was no significant difference in overall survival rate between anatomical liver resection and non‐anatomical liver resection( P=0.895), but the recurrence rate of non‐anatomical liver resection was higher than that of anatomical liver resection( P=0.035). Conclusions:In the past decade, the overall survival rate of HCC undergoing surgical treatment is significantly higher than before. For HCC patients with good liver function reservation, surgical resection can be performed first, and salvage liver transplantation can be performed after recurrence. The effect of salvage liver transplantation is comparable to that of primary liver transplantation. As for the choice of liver resection approaches, non‐anatomical resection can reserve more liver tissue and can be selected as long as the negative margin is guaranteed.