Objective To analyze the effects of postoperative radiotherapy and other factors on the prognosis of metastatic sarcomatoid renal cell carcinoma(sRCC)so as to provide reference for the clinical decision-making.Methods Data of all sRCC patients during 2004-2018 were extracted from the American Surveillance,Epidemiology,and End Results(SEER)database,and 337 patients were ultimately enrolled.Patients were divided into the postoperative non-radiotheropy group(n=255)and postoperative radiotherapy group(n=82)based on different treatment modalities.Baseline data were compared between the two groups.The 1-year overall survival(OS)and cancer-specific survival(CSS)rates were calculated.Kaplan-Meier(K-M)survival curves were plotted.The prognostic factors were identified with univariate and multivariate Cox regression analyses.Results No significant differences were observed in baseline data between the two groups(P＞0.05).The 1-year OS(25.6％vs.30.1％)and CSS(26.2％vs.30.8％)in the postoperative radiotherapy group were lower than those in the postoperative no-radiotheropy group,but the differences were not statistically significant(P＞0.05).Multivariate Cox regression analysis showed that year of diagnosis,patients' age,tumor size,T stage,N stage and chemotherapy were independent prognostic factors of sRCC(P＜0.05).Patients diagnosed in 2015-2018 and treated with chemotherapy had a good prognosis,while patients＞61 years,with tumor size＞147 mm,tumor stage T3-T4,and stage N1 had a poor prognosis.Conclusion The year of diagnosis,patients'age,tumor size,tumor stage and chemotherapy were independent prognostic factors,and postoperative radiotherapy did not significantly improve the prognosis of metastatic sRCC patients.

Objective To analyze the effects of postoperative radiotherapy and other factors on the prognosis of metastatic sarcomatoid renal cell carcinoma(sRCC)so as to provide reference for the clinical decision-making.Methods Data of all sRCC patients during 2004-2018 were extracted from the American Surveillance,Epidemiology,and End Results(SEER)database,and 337 patients were ultimately enrolled.Patients were divided into the postoperative non-radiotheropy group(n=255)and postoperative radiotherapy group(n=82)based on different treatment modalities.Baseline data were compared between the two groups.The 1-year overall survival(OS)and cancer-specific survival(CSS)rates were calculated.Kaplan-Meier(K-M)survival curves were plotted.The prognostic factors were identified with univariate and multivariate Cox regression analyses.Results No significant differences were observed in baseline data between the two groups(P＞0.05).The 1-year OS(25.6％vs.30.1％)and CSS(26.2％vs.30.8％)in the postoperative radiotherapy group were lower than those in the postoperative no-radiotheropy group,but the differences were not statistically significant(P＞0.05).Multivariate Cox regression analysis showed that year of diagnosis,patients' age,tumor size,T stage,N stage and chemotherapy were independent prognostic factors of sRCC(P＜0.05).Patients diagnosed in 2015-2018 and treated with chemotherapy had a good prognosis,while patients＞61 years,with tumor size＞147 mm,tumor stage T3-T4,and stage N1 had a poor prognosis.Conclusion The year of diagnosis,patients'age,tumor size,tumor stage and chemotherapy were independent prognostic factors,and postoperative radiotherapy did not significantly improve the prognosis of metastatic sRCC patients.

OBJECTIVE: To carry out genetic testing for a child with Marfan syndrome (MFS) and explore its genotype-phenotype correlation. METHODS: Peripheral blood samples of the child and his parents were collected for the extraction of genomic DNA and subjected to whole exome sequencing (WES). Candidate variants were verified by Sanger sequencing. Functional impact of the variant was predicted by using bioinformatic software. RESULTS: The child, a 13-year-old male, has featured Marfanoid habitus, with arm span exceeding his height, tapering fingers and toes, pectus excavatum and scoliosis, but absence of typical cardiovascular system diseases such as aortic dilation, thoracic-abdominal aortic aneurysm, mitral valve prolapse, and lens dislocation. The child has harbored a novel splice site variant c.7383_7413del (p. N2461Kfs*211) of the FBN1 gene, which was not found in his parents and younger brother. The variant was unreported previously. CONCLUSION The novel variant of p. N2461Kfs*211 of the FBN1 gene probably underlay the MFS in this child. Above finding has enriched the genotypic and phenotypic spectrum of MFS.
Male ; Humans ; Marfan Syndrome/genetics* ; Fibrillin-1/genetics* ; Mutation ; Genotype ; Genetic Association Studies

Objective:To investigate the application value of metagenomic next generation sequencing (mNGS) in the diagnosis of spinal infectious diseases except tuberculosis and non-tuberculous mycobacterium infection.Methods:According to the inclusion and exclusion criteria, the clinical data of 171 patients with suspected non-tuberculous infectious diseases of spine from January 2019 to November 2020 were analyzed retrospectively. All patients underwent puncture biopsy of spine or surgery to obtain tissue specimens, then tissue biopsy were measured, and Foci purulent blood or lavage fluid was obtained for routine bacterial and mNGS. The differences of reporting time, sensitivity (positive rate) and specificity (true negative rate) were compared between the two methods. The pathogenic microorganism spectrum of spinal infection was analyzed. The effects of specimen collection method, preoperative antibiotic use and specimen type on the detection of pathogenic microorganisms were analyzed.Results:According to the diagnostic criteria of non-tuberculous infectious diseases of the spine, there were 136 cases of infection, among which 111 cases had specific pathogenic microorganism. The average reporting time of traditional culture and mNGS were 81.67+15.52 h and 36.33+11.92 h. There were 43 positive cases and 5 false positive cases in traditional culture, the sensitivity was 31.62%, and the specificity was 85.71%; There were 76 positive cases and 19 false positive cases in mNGS, the sensitivity was 55.88%, and the specificity was 45.71%. There were significant statistical differences in the sensitivity, specificity and reporting time for detection of pathogenic microorganisms by mNGS. The top 3 pathogens of non-specific infection were Staphylococcus aureus and Staphylococcus, Escherichia coli and Streptococcus. Eleven patients with non-tuberculous specific infection were confirmed, including 2 positive cases with traditional culture, 11 positive cases with mNGS. A higher detection rate for rare specific infections were expressed in mNGS. Logistic regression analysis indicated that the standard antibiotic use 4 weeks before surgery and specimen acquisition methods had significant effects on the traditional culture results, while the specimen acquisition methods had no statistically significant effects on the mNGS.Conclusion:Metagenomic next generation sequencing has a higher sensitivity to the detection of pathogenic microorganisms in the diagnosis of non-tuberculous spinal infectious diseases, especially for the detection of rare pathogenic microorganisms, which has a high diagnostic value.

Infectious diseases of spine (IDS) refer to a series of infectious diseases in different parts of the spine (vertebral body, intervertebral disc, appendix of vertebra, spinal canal, and adjacent paravertebral tissues) caused by various pathogenic microorganisms, accounting for about 2%~7% of systemic musculoskeletal system infections. According to the classic classification IDS can be divided into two types: specific infection and non-specific infection. IDS often has an insidious onset, atypical clinical manifestations, and less-specific imaging and laboratory tests, which causes great difficulties for the accurate diagnosis and treatment, often leading to missed diagnosis, misdiagnosis, and even mistreatment. Problems such as disordered clinical diagnosis and treatment procedures, diverse treatment methods, and non-standard medication and course of treatment still affect the prognosis of IDS. This article reviews the current research progress of the diagnosis and treatment process of IDS, in order to further standardize the diagnosis and treatment process of IDS.

Objective:To analyze the correlation between blood routine-derived inflammation indicators and respiratory function in patients with pneumoconiosis.Methods:In January 2021, 492 male pneumoconiosis patients hospitalized in Hefei Institute of Occupational Disease Control and Prevention from 2012 to 2020 were randomly selected as the case group, 492 dust exposed non pneumoconiosis workers who underwent occupational health examination at the same time were taken as the control group. The occupational history and clinical examination data of the two groups of subjects were collected, the correlation between blood routine-derived inflammatory indexes and pulmonary function and blood gas analysis was analyzed retrospectively.Results:Compared with the control group, the lymphocyte monocyte ratio (LMR) in the case group was decreased, and the neutrophil lymphocyte ratio (NLR) was increased, and the difference was statistically significant ( P<0.05) . There were significant differences in forced vital capacity as a percentage of the predicted value (FVC) , forced expiratory volume in the first second as a percentage of the predicted value (FEV 1%) , one second rate (FEV 1/FVC) , partial pressure of oxygen (PaO 2) , partial pressure of carbon dioxide (PaCO 2) , and pH among pneumoconiosis patients at different stages ( P<0.05) . FVC%, FEV 1%, FEV 1/FVC, and PaO 2 decreased with the increase of the stage, the trend test was statistically significant (tau-b=-0.24, -0.34, -0.37, -0.17, P<0.05) , PaCO 2 and pH increased with the increase of the stage, and the trend test was statistically significant (tau-b=0.10, 0.08, P<0.05) . There were statistically significant differences in LYM, LMR, NLR, platelet lymphocyte ratio (PLR) in patients with pneumoconiosis at different stages ( P<0.05) , and LYM and LMR decreased with the increase of stage, trend test showed that there was statistically significant (tau-b=-0.11, -0.13, P<0.05) . There were significant differences in FVC%, FEV 1%, FEV 1/FVC, PaO 2, pH, LMR, NLR, PLR among patients with different types of pneumoconiosis ( P<0.05) . LMR in pneumoconiosis patients was significantly positively correlated with FVC%, FEV 1%, FEV 1/FVC and PaO 2 ( rs=0.342, 0.324, 0.203, 0.207, P<0.05) , NLR was significantly negatively correlated with FVC%, FEV 1%, FEV 1/FVC and PaO 2 ( rs=-0.193, -0.202, -0.164, -0.177, P<0.05) , PLR was significantly negatively correlated with FVC%, FEV 1%, FEV 1/FVC and PaO 2 ( rs=-0.194, -0.193, -0.106, -0.113, P<0.05) . Multiple linear regression analysis showed that LMR in pneumoconiosis patients was positively related with FVC%, FEV 1% and PaO 2 ( P<0.05) . Conclusion:LMR in patients with pneumoconiosis has a certain correlation with lung function and blood gas analysis, LMR is expected to become a sensitive indicator for evaluating pneumoconiosis.

Objective:To analyze the correlation between blood routine-derived inflammation indicators and respiratory function in patients with pneumoconiosis.Methods:In January 2021, 492 male pneumoconiosis patients hospitalized in Hefei Institute of Occupational Disease Control and Prevention from 2012 to 2020 were randomly selected as the case group, 492 dust exposed non pneumoconiosis workers who underwent occupational health examination at the same time were taken as the control group. The occupational history and clinical examination data of the two groups of subjects were collected, the correlation between blood routine-derived inflammatory indexes and pulmonary function and blood gas analysis was analyzed retrospectively.Results:Compared with the control group, the lymphocyte monocyte ratio (LMR) in the case group was decreased, and the neutrophil lymphocyte ratio (NLR) was increased, and the difference was statistically significant ( P<0.05) . There were significant differences in forced vital capacity as a percentage of the predicted value (FVC) , forced expiratory volume in the first second as a percentage of the predicted value (FEV 1%) , one second rate (FEV 1/FVC) , partial pressure of oxygen (PaO 2) , partial pressure of carbon dioxide (PaCO 2) , and pH among pneumoconiosis patients at different stages ( P<0.05) . FVC%, FEV 1%, FEV 1/FVC, and PaO 2 decreased with the increase of the stage, the trend test was statistically significant (tau-b=-0.24, -0.34, -0.37, -0.17, P<0.05) , PaCO 2 and pH increased with the increase of the stage, and the trend test was statistically significant (tau-b=0.10, 0.08, P<0.05) . There were statistically significant differences in LYM, LMR, NLR, platelet lymphocyte ratio (PLR) in patients with pneumoconiosis at different stages ( P<0.05) , and LYM and LMR decreased with the increase of stage, trend test showed that there was statistically significant (tau-b=-0.11, -0.13, P<0.05) . There were significant differences in FVC%, FEV 1%, FEV 1/FVC, PaO 2, pH, LMR, NLR, PLR among patients with different types of pneumoconiosis ( P<0.05) . LMR in pneumoconiosis patients was significantly positively correlated with FVC%, FEV 1%, FEV 1/FVC and PaO 2 ( rs=0.342, 0.324, 0.203, 0.207, P<0.05) , NLR was significantly negatively correlated with FVC%, FEV 1%, FEV 1/FVC and PaO 2 ( rs=-0.193, -0.202, -0.164, -0.177, P<0.05) , PLR was significantly negatively correlated with FVC%, FEV 1%, FEV 1/FVC and PaO 2 ( rs=-0.194, -0.193, -0.106, -0.113, P<0.05) . Multiple linear regression analysis showed that LMR in pneumoconiosis patients was positively related with FVC%, FEV 1% and PaO 2 ( P<0.05) . Conclusion:LMR in patients with pneumoconiosis has a certain correlation with lung function and blood gas analysis, LMR is expected to become a sensitive indicator for evaluating pneumoconiosis.

Objective: To explore the diagnosis and treatment of head and neck Castleman′s disease (CD), and to improve the understanding of the disease. Methods: The clinical data of 41 patients with head and neck CD treated from January 2007 to July 2017 in the First Affiliated Hospital of Zhengzhou University were analyzed retrospectively. The patients were divided into two groups: localized CD (LCD, n=27) and multicentric CD (MCD, n=14). The clinical manifestations, laboratory examinations, operations, pathological findings and follow-up data were analyzed. Results: LCD was characterized by asymptomatic enlargement of the single lymph node with mild clinical symptoms. The main pathological type was hyaline vascular type, which can be cured by surgical treatment. MCD accompanied by fever 9 cases(64.3%), anemia 8 cases (57.1%), splenomegaly 7 cases (50.0%), respiratory symptoms 6 cases (42.9%), with multiple enlarged superficial and deep lymph nodes with pain, pleural effusion, and edema of lower extremity, C-reaction protein increased in 8 cases (57.1%), hypoproteinemia 8 cases(57.1%), globulin increased 7 cases (50.0%) and neutropenia 6 cases(42.9%). The main pathological type was plasma cell type in 7 cases (50.0%), and also there were 4 cases of hyaline vascular type and 2 cases of mixed type. Chemotherapy with or without rituximab was the main treatment. Most patients received complete or partial remission except for 2 patients who died of lung infection due to chemotherapy. Conclusions The diagnosis of head and neck CD depends on pathological examination. LCD shows mild symptoms and good prognosis after surgery. However, clinical manifestations of MCD are complex, with relatively poor prognosis after comprehensive treatment.

Background and purpose:As one of the most fatal malignant tumors in China, the morbidity and mortality of lung cancer remain high. Early diagnosis and normative treatment is the key to improve the prognosis of lung cancer. The aim of this study was to explore the practice of early lung cancer screening with low-dose spiral computed tomography (CT) based on the current situation in community health service, with integration of superior resources of med-ical institutions at all levels in Shanghai.Methods:From Aug. 2013 to Aug. 2014, we screened high-risk population in selected communities of Minhang District, Shanghai, for early diagnosis of lung cancer with low-dose spiral CT combined with multidisciplinary comprehensive treatment models including minimally invasive surgery, exploring the medical service network covering prevention, diagnosis, treatment, rehabilitation and follow-up.Results:Screening population is 11 332 (male 7 144, female 4 188); Twenty-nine cases with pathological diagnosis of malignant tumor, including 27 cases of pri-mary lung cancer, 1 case of lung metastasis, 1 case of breast cancer. The morbidity of primary lung cancer is 238.26×10-5. There were 22 cases of Stage 0-Ⅰ lung cancer accounting for 81.48% of all diagnosed primary lung cancer.Conclusion:Based on community health service, screening with low-dose spiral CT could improve the early diagnosis rate of lung can-cer with feasibility and validity, which could be applicable in qualified eligible medical center and community in China.

Objective To evaluate the differential diagnostic value of 18F-FDG PET/CT between pancreatic lymphoma (PL) and pancreatic carcinoma (PC).Methods The 18 F-FDG PET-CT data of 16 patients who were pathological diagnosed with PL were retrospectively reviewed and compared with those of 32 consecutive pancreatic cancer patients who were pathologically diagnosed and randomly enrolled.The age,location,diameter and the maximum standard uptake values (SUVmax) of pancreatic lesions,pancreatic ductal dilatation,distal pancreatic atrophy,serum CA19-9 level and extrapancreatic organs involvement were analyzed.Results The 16 patients with PL included 8 men and 8 women,the mean age was (46 ± 17)year,and 11.1％ (1/9) patients had elevated CA19-9.The 32 patients with PC included 15 men and 17 women,the mean age was (61 ± 12)year,and 81.3％ patients had elevated CA19-9.There were no significant differences on gender between the two groups,while the mean age of PL patients was younger than that of PC,elevated CA19-9 was less common than that in PC,and the differences were statistically significant (all P＜0.05).There were 12 cases of diffusive large B cell lymphoma,2 cases of B lymphoblastic lymphoma/leukaemia,1 case of follicular lymphoma and 1 case of dysplastic large T cell lymphoma in 16 PL patients.There was no significant difference on the site of pancreatic lesions between the two groups,but long diameter of PL lesions was larger than that of PC [(6.6 ± 3.3) vs (4.3 ± 1.8) cm,P =0.038].Dilated pancreatic duct and distal parenchyma atrophy in PL were less than those in PC (3/16 vs 17/32,1/16 vs 13/32),and SUVmax of PL lesions was significantly higher than that of PC (12.0 ± 5.5 vs 8.6 ± 3.8),indicating that the differences were statistically significant (all P ＜ 0.05).The cut-off value of SUVmax was 9.95,and Youden's index was 0.406 with the sensitivity and specificity of 68.8％ and 71.9％ for differentiating PL from PC.The incidence of extrapancreatic lesions including bone marrow and kidney and spleen infiltration was significantly more frequent in patients with PL than that in patients with PC(56.3％ vs 6.25％,43.8％ vs 3.1％,50.0％ vs 6.3％),while the incidence of liver metastases was significantly lower than that in PC (12.5％ vs 5.0％),indicating that the differences were statistically significant (all P ＜0.01).There were no significant differences on the incidence of other extrapancreatic lesions.Conclusions PL should be considered in relatively younger patients and manifested as a bulky mass with significant FDG uptake and extrapancreatic involvement of bone,kidney and spleen but without distinct pancreatic ductal dilation or distal parenchymal atrophy or liver metastasis.