Objective In this study,we aimed at investigating the clinical,laboratory and management characteristics of adolescent-onset SLE patients compared with adult-onset SLE patients.Methods 470 fe- male patients with SLE were divided into two subgroups:adolescent-onset SLE patients and adult-onset SLE patients.The analyzed variables included clinical,laboratory parameters,damage index and outcome charac- teristics.Results In 470 female patients with SLE,there were 98(20.85%)adolescent-onset SLE patients. The following manifestations occurred more frequently in adolescent-onset SLE patients:malar rash,cutaneous vasculitis,proteinuria and abnormal liver function.Adolescent-onset SLE patients had more severe disease features and had significantly higher mean value of SLEDAI.Mortality was higher in adolescent-onset SLE pa- tients than aduh-onset SLE patients.Renal and blood system were the organs that most frequently involved. Conclusion Adolescent-onset SLE patients accounts for roughly 20.85% of all SLE cases.It is necessary to pay more attention to adolescent-onset SLE patients because the management for them is usually more difficult and the prognosis is usually poorer than aduh-onset SLE patients.

Objective To analyze the characteristics of proximal deep vein thrombosis (DVT) after total joint arthroplasty.Methods 40 cases of proximal DVT were collected from May 2007 to October 2016 which were all diagnosed by lower limb venography or sonography.There were 9 males and 31 females aged from 38 to 86 years,average 67 years,and body mass index was from 16.94 to 31.25kg/m2,with an average of 24.3 kg/m2.29 cases of THA patients and 11 cases of TKA patients.The anatomical distribution,size,radiological performance,local physical findings were recorded and multivariable analysis was performed to evaluate the relationship between distribution of proximal DVT and related parameters including age,gender (male/female),side of leg(left/right),surgery type(knee and hip),preoperative diagnosis(femoral neck fracture/other disease),time of diagnosis with DVT (during hospitalization/after discharge).Results Among 40 proximal DVT cases,31 cases diagnosed by phlebography and 9 cases were diagnosed by ultrasound.2 cases were isolated proximal DVT while 38 cases connected with distal DVTs.9 cases of blood clots in the proximal and distal thrombosis connected discontinuously.There was no isolated proximal DVT in TKA group and 10 cases (90.9％) of blood clots in the proximal and distal thrombosis connected continuously while there were 2 cases (6.9％) isolated proximal DVTs in THA group and 21 (77.8％) of blood clots in the proximal and distal thrombosis connected discontinuously,and there was no statistic significant difference between the two groups.The average length of proximal was 8.85±9.3 1cm (range from 2-35cm) with 5.0±2.05 cm in TKA group and 10.31 ± 10.55 cmin THA group.A significant difference was found between the 2 groups (P=0.014).13 cases located in femoral veins and upper venous region which were all from THA group.There was a significant difference in the distribution between surgery type and preoperative diagnosis.However,there was no significant difference between other potential factors and distribution of proximal DVT.25 cases accepted the evaluation of symptom of DVT before scanning.However,no significant difference were found in edema,VAS score,Homans sign,Neuof sign between 9 TKA and 16 THA cases.Conclusion Proximal DVTs after knee and hip arthroplasty are more preferred to connect with distal DVT continuously.Surgery type and preoperative diagnosis have a significant effect on the distribution of proximal DVT.Proximal DVTs in THA and patients with preoperative femoral neck fracture could be more easily involving femoral veins and upper parts.

OBJECTIVETo investigate the effect of the protocol recommended by NCCN-2007 on the diagnosis of hereditary nonpolyposis colorectal cancer (HNPCC) in China.

METHODSNCCN protocol consists of identifying HNPCC characteristics according to the revised Bethesda Guidelines,genetic counseling with immunohistochemistry and finally genetic testing. Four hundred and nineteen patients diagnosed as colorectal cancer from January 2002 to February 2006 were selected. The hMLH1 and hMSH2 immunostaining were implemented for 90 patients who fulfilled the revised Bethesda Guidelines, in whom 8 patients fulfilling the Amsterdam II (Criteria were classified as group A and the other 82 patients as group B. The frozen tissues were collected from patients who showed loss of hMLH1 or hMSH2 protein expression, then RNA was extracted, and RT-PCR and cDNA sequencing were adopted to detect the germline mutations of hMLH1 and hMSH2.

RESULTSTumor tissues from 18 patients showed loss of hMLH1 or hMSH2 protein expression (5 patients in group A and 13 in group B). Finally, 21 patients(8 in group A and 13 in group B showed loss expression of MMR protein) were diagnosed as HNPCC, including 2 cases of hMLH1 and 1 case of hMSH2 mutations. These 3 cases with cDNA mutations did not fulfill the Amsterdam II( Criteria, and were finally diagnosed as HNPCC.

CONCLUSIONThe protocol recommended by NCCN-2007 offers a useful approach to identify HNPCC patients,and reduces the possibility of missed diagnosis of HNPCC.

Adult ; Aged ; Aged, 80 and over ; Base Pair Mismatch ; China ; Colorectal Neoplasms, Hereditary Nonpolyposis ; diagnosis ; genetics ; Female ; Gene Deletion ; Genetic Testing ; methods ; Guidelines as Topic ; Humans ; Male ; Middle Aged ; Young Adult

OBJECTIVETo study clinical features and gene mutations in Shwachman-Diamond syndrome (SDS), a rare autosomal recessive disease, in children.

METHODClinical manifestations, laboratory examinations, image studies, and genetic testing of two cases with SDS were presented, analyzed, and discussed; 311 SDS cases from the related literature since 2004 were reviewed.

RESULT(1) The two cases both presented with characteristic exocrine pancreatic insufficiency evidenced by abnormal pancreas on imaging and growth retardation, persistent or intermittent neutropenia (<1500×10(6)/L) and/or anemia, and skeletal abnormalities. Analysis of the SBDS gene revealed the same compound heterozygous genotype (c.183_184TA > CT, c.258+2T > C) for both subjects. This genotype is the result of the inheritance of abnormal alleles from both healthy parents. (2) Among 311 cases, 75 cases having complete clinical data were characterized by exocrine pancreatic dysfunction (61/75; 81.3%), hematologic abnormalities with single- or multi-lineage cytopenia (64/75; 85.3%), and bone abnormalities (47/75; 62.7%). c.183_184TA > CT, c.258+2T > C, and c. [ 183_184TA > CT; 258+2T > C] are the major types of SBDS gene mutation(85/138;61.6%).

CONCLUSIONSDS is characterized by exocrine pancreatic dysfunction with malabsorption, malnutrition, and growth failure; hematologic abnormalities with single- or multi-lineage cytopenia, and bone abnormalities. The diagnosis of SDS relies on a combination of clinical features and gene-based tests. The SDS patients need long term follow-up and management.

Bone Marrow Diseases ; diagnosis ; genetics ; Child ; DNA Mutational Analysis ; Exocrine Pancreatic Insufficiency ; diagnosis ; genetics ; Exons ; Genes, Recessive ; Heterozygote ; Humans ; Infant ; Lipomatosis ; diagnosis ; genetics ; Male ; Mutation ; Neutropenia ; Proteins ; genetics

Translational biomedical informatics is a new discipline integrating bioinformatics,medical informatics with translational medicine.The paper discusses the rise and ecology of the discipline,pointing out that full sharing of data is the foundation,complete genotype-clinical phenotype is the core and precise prediction that solves complicated diseases is the key,and analyzing the connotation of the discipline and development trend against the big data background profoundly.

BACKGROUND: Numerous studies have focused on lymphoma among patients infected with human immunodeficiency virus (HIV). However, little is known about the treatment options and survival rate of lymphoma in the Chinese people living with HIV (PLHIV). Our study aimed to investigate the prognosis and compare outcome of dose-adjusted etoposide, prednisone, vincristine, cyclophosphamide, doxorubicin, and rituximab (DA-EPOCH-R) with standard cyclophosphamide, doxorubicin, vincristine, prednisone and rituximab(R-CHOP) as front line therapy for PLHIV with diffuse large B-cell lymphoma (DLBCL) receiving modern combined antiretroviral therapy (cART). METHODS: A retrospective analysis evaluating PLHIV with DLBCL was performed in Shanghai Public Health Clinical Center from July 2012 to September 2019. The demographic and clinical data were collected, and overall survival (OS) and progression-free survival (PFS) analyses of patients receiving R-CHOP or DA-EPOCH-R therapy were performed by Kaplan-Meier analysis. Additionally, a Cox multiple regression model was constructed to identify related factors for OS. RESULTS: A total of 54 eligible patients were included in the final analysis with a median follow-up of 14 months (interquartile range [IQR]: 8-29 months). The proportion of high international prognostic index (IPI) patients was much larger in the DA-EPOCH-R group (n = 29) than that in the R-CHOP group (n = 25). The CD4 cell counts and HIV RNA levels were not significantly different between the two groups. The 2-year OS for all patients was 73%. However, OS was not significantly different between the two groups, with a 2-year OS rate of 78% for the DA-EPOCH-R group and 66% for the R-CHOP group. Only an IPI greater than 3 was associated with a decrease in OS, with a hazard ratio of 5.0. The occurrence of grade 3 and 4 adverse events of chemotherapy was not significantly different between the two groups. CONCLUSIONS Outcomes of R-CHOP therapy do not differ from those of DA-EPOCH-R therapy. No HIV-related factors were found to be associated with the OS of PLHIV in the modern cART era.
Antineoplastic Combined Chemotherapy Protocols/therapeutic use* ; China ; Cyclophosphamide/therapeutic use* ; Doxorubicin/therapeutic use* ; HIV ; HIV Infections/drug therapy* ; Humans ; Lymphoma, Large B-Cell, Diffuse/drug therapy* ; Prednisone/therapeutic use* ; Retrospective Studies ; Rituximab/therapeutic use* ; Vincristine/therapeutic use*

We established the method of Sandwich ELISA to detect Cryptosporidium parvum antigen.Purified anti-Cryp-tosporidium IgG and IgY were used as a capture antibody and detection antibody respectively to develop sandwich ELISA.A checkerboard titration study was carried out to determine the optimal conditions of ELISA.The PCR based on 18SrRNA was used to evaluate the pre-treatment effect of three methods (saturated sucrose solution floating,saturated salt water floating and PBST detergent washing).The optimum concentration of coated antibody,antigen,detection antibody and enzyme-labelled an-tibody were 1:800,2.5 μg/mL,1:100 and 1:5 000 respectively.The coating condition,antigen antibody reaction,opti-mum reaction time of enzyme-labelled antibody were 4 ℃ through the night after 37 ℃,incubated at 37 ℃ for 30 min and 45 min respectively;the optimal termination condition was 2 mol/L H2SO4,50 μL/well;TMB developed 10 minutes at room temperature.The developed sandwich ELISA has no cross reaction with the eggs/oocyts of Nematode,Coccidium and Asca-rid;coefficient of variation of intra-assay and inter-assay were all less than 10%.The results showed that the total coincidence rate of the three pre-treatment methods with nested PCR were 95.83%,91.67% and 83.33%,respectively,and the Saturated Sucrose Floatation method was the best one among the three methods,the sensitivity of the method was lower than the Cry p-tosporidium detection kit of IDEXX(6×103/mL),and whole test process was longer than the kit.While,its specificity and reproducibility were consistent with that of IDEXX kit,and the developed method was more economical.The method is simple,rapid,sensitive,and can be used for clinical epidemio-logical investigation of Cryptosporidiosis or pathogen detection.

OBJECTIVETo study the epidemic pattern and trend of HBV infection in the area where the people had been immunized by HBV vaccine for 20 years.

METHODSThe whole sampling method was applied in combination with cross-sectional investigation. Blood samples were taken from every member of families. Markers of HBV infection were determined by using solid-phase radioimmunoassay (SPRIA).

RESULTS(1) The average HBsAg positive rate was 7.5%. The positive rate of markers for HBV infection of 0-19 years old subjects were lower than those of > or = 20 years old subjects. (2) The positive rate of HBsAg of 0-19 years old subjects in 1985 was higher than that in 2005. The anti-HBs positive rate in 1985 stemmed to be higher with age. It was 12.4% in 1- age group to 53.8% in >60 years age group. While the result of 2005 showed that the anti-HBs positive rate of 0-19 years old subjects dropped with age. The anti-HBc positive rate in 1985 also tended to be higher with age. But the result of 2005 showed that the rate of 0-19 years old subjects was just 1.4% to 16.8%.

CONCLUSIONThe epidemic patterns of HBV infection have had significant variations in the target population. HBV vaccine immunization has obtained excellent efficacy.

Adolescent ; Adult ; Aged ; Child ; Child, Preschool ; China ; epidemiology ; Cross-Sectional Studies ; Female ; Hepatitis B ; blood ; epidemiology ; prevention & control ; Hepatitis B Vaccines ; administration & dosage ; therapeutic use ; Humans ; Immunization ; Infant ; Infant, Newborn ; Male ; Middle Aged ; Seroepidemiologic Studies ; Time Factors ; Treatment Outcome ; Young Adult

OBJECTIVETo compared the differentiation capacity of rat adipose-derived stem cells (ASCs) and bone marrow mesenchymal stem cells (BMSCs) into endothelial cells.

METHODSRat BMSCs and ASCs were isolated, cultured and identified for cell surface markers using flow cytometry. The cell growth curves were drawn by CCK-8 assay, and the cells in active growth were induced for endothelial differentiation following standard protocols. On day 21 of induction, the cells were examined for mRNA expressions of endothelial cell specific markers CD31, KDR, and vWF using qPCR. Immunostaining was performed to observe the expression of CD31 on the cells. The induced cells were also tested for Dil-labeled acetylated low-density lipoprotein (ac-LDL) uptake ability. The tube-forming ability of the induced cells was verified on Matrigel.

RESULTSWe successfully isolated rat ASCs and BMSCs. Morphologically, ASCs were similar with BMSCs, both having long spindle-shaped and fibroblast-like morphology. Flow cytometry showed that both BMSCs and ASCs had high expressions of mesenchymal markers CD29 and CD90 and a low expression of hematopoietic cell surface markers CD45. CCK-8 assay showed that ASCs proliferated more quickly than BMSCs. The cells with induced endothelial differentiation exhibited increased levels of CD31, KDR, and vWF mRNA expressions and immunofluorescent staining identified CD31 antigen expression on the cell membrane. Fluorescence microscopy revealed red fluorescence in the induced cells suggesting uptake of Dil-Ac-LDL by the cells. The induced cells were capable of forming tube on Matrigel, confirming their identity of endothelial cells.

CONCLUSIONBoth rat BMSCs and ASCs can be induced to differentiate into endothelial cells, but ASCs differentiate more quickly into endothelial cells and possess a stronger proliferation ability, suggesting its greater potential than BMSCs in future applications.

OBJECTIVETo study the epidemiological pattern and trends of hepatitis B virus (HBV) in the area where people had been immunized by HBV vaccine for long time.

METHODSThrough cluster sampling and cross-sectional study, relative information and blood samples from people in Long-an county by families were collected. Signals of HBV infection were tested by solid-phase reverse immunosorbent test.

RESULTS(1) The average HBsAg positive rate was 7.5% with anti-HBs as 44.5 %, and anti-HBc as 47.8%. The positive rates of HBsAg and anti-HBc among 0-19 year-olds were lower than those of > or = 20 year-olds. (2) The positive rates of HBsAg, anti-HBc and HBV infection among HBV vaccine immunized group were 2.8%, 12.0% and 12.5% respectively, comparing with which among the un-immunized group as 10.2%, 69.8% and 71.2% respectively. (3) The HBsAg positive rate of male was higher than the female's but with no significant difference of anti-HBs and anti-HBc between different sexes. (4) The average HBsAg positive rate of 0-19 years old group was only 2.4%, while that of 20-30 years old group was 13.6%-17.7% and dropped from 60 years old group and on. The anti-HBs positive rate of 0-19 years old people started to drop significantly by age. The anti-HBs and anti-HBc positive rates of > or = 20 years people were showing a rising trend by ages.

CONCLUSIONIt seemed obviously that the HBV epidemiological patterns had changed after HBV vaccine had been universally used for long time in newborns. The age peak of infection had been pushed backward for nearly 20 years. It had been proved that the HBV vaccine immunization program had obtained excellent efficacy.

Adolescent ; Adult ; Age Distribution ; Aged ; Aged, 80 and over ; Child ; Child, Preschool ; Female ; Hepatitis B ; epidemiology ; immunology ; prevention & control ; Hepatitis B Antibodies ; immunology ; Hepatitis B Surface Antigens ; immunology ; Hepatitis B Vaccines ; therapeutic use ; Humans ; Infant ; Infant, Newborn ; Male ; Middle Aged ; Young Adult