Factor VII Deficiency ; genetics ; Humans

Cardiomyopathy, Dilated ; etiology ; pathology ; therapy ; Humans ; Myocardium ; pathology

Objective: To investigate the expressions of signal transducer and activators of transcription 3 (STAT3) and suppressor of cytokine signaling 3 (SOCS3) protein in the breast carcinoma tissue and their relationship with tumor differentiation, invasion, and metastasis. Methods: The expression of STAT3, phospho-STAT3 and SOCS3 protein were determined by tissue microarray and immunohistochemistry with EnVision system in 71 cases of archival breast carcinoma tissues and 41 cases of noncancerous tissues. The relationship between their expression and the clinical pathological parameters were analyzed. Results: (1) The positive rates of STAT3, phospho-STAT3, and SOCS3 was 78.9%, 69.0%, and 29.6%, respectively. The difference was significantly different compared with control (P<0.01, P<0.01, and P<0.05). (2) The expressions of STAT3 and phospho-STAT3 were positively related with the histological grade, the axillary lymph node metastasis, and the clinical stage (P<0.01), but not related with the age, the tumor size, and the histological grade of breast carcinoma tissues (P>0.05). The expression of SOCS3 was negatively related with the histopathologic grade and the axillary lymph node metastasis (P<0.05), but was not related with the age, histological type, the tumor size, and the clinical stage (P>0.05). (3) The expression of STAT3 and phospho-STAT3 had negative correlation with the expression of SOCS3 in breast carcinoma tissues (P<0.01). Conclusion: The overexpressions of STAT3 and phospho-STAT3 and the down-regulated expression of SOCS3 closely correlated with the tumor carcinogenesis, progression, invasion, and metastasis of breast carcinoma. Detection of their expression is helpful in accessing the malignant degree and the biological behaviors of breast carcinoma.

To evaluate the influence of phacoemulsification on corneal endothelium of senile cataract with lupus nephritis (LN).
●METHODS:This clinical trial involved 40 cataract patients with lupus nephritis (40 eyes), and 50 cases (50 eyes) without lupus nephritis. All of them underwent phacoemulsification+lOL implantation. The parameters of corneal endothelial cell including central corneal endothelium cell density ( CED ), average area of endothelial cell ( AVE) and coefficient of variation ( CV) were recorded by corneal endothelial microscope pre -operation and at one month after operation. The data were analyzed by SPSS 13. 0 statistical software.
● RESULTS: Both LN group and control group, the morphology of coneal endothelial was statistical significant differences between pre - operation and 1mo postoperation. The CED was lower, AVE and CV were higher ( P < 0. 05, respectively). A significant decrease in CED was seen in the LN group than did in the control group (P < 0. 05). Compared to control group,the post -operative AVE and CV in LN group was significantly increased (P<0. 05).
● CONCLUSlON: The corneal endothelial cell in lupus nephritis patients is more fragile. Safe and reliable operation should be selected for these patients.

Objective To study the correlation between prognosis of non-small cell lung cancer ( NSCLC) patient and serum levels of HGF and IL-6. Methods Eligible 109 NSCLC patients and preoperative blood samples of each patient in our hospital from March 2013 to May 2014 were collected. Then the levels of HGF and IL-6 of serum samples were detected by using ELISA kit. All patients were followed up for 1 year. The neoplasm staging:67 cases were stagingⅠ-Ⅱ,38 cases were stagingⅢ,2 cases were staging IV. There were 79 cases with ad-enomatous carcinoma( ADC) ,26 cases with squamous carcinoma( SCC) and 4 cases with NSCLC. According to the TNM staging,there were 79 cases in pN( -) group,31 in pN( +) group,77 in pT(T1-T2) group and 28 in pT(T3-T4) group. Results The average concentration of HGF and IL-6 in serum were 860 pg/mL and 2. 7 pg/mL respectively. Analysis of survival indicated that,compared to those patient with lower serum level of HGF and IL-6,the survival rate of patient with high serum level was much lower. The difference was statistically signifi-cant (HGF,P=0. 019;IL-6,P=0. 002). The analysis of the patients with stageⅢdisease separately also indicated that survival rate of pa-tient with lower serum of HGF and IL-6 was higher than others. Conclusion The serum levels of HGF and IL-6 might be a effective indica-tors for predicting prognosis of the NSCLC paitents.

OBJECTIVE: To evaluate and compare whole exome sequencing (WES) and targeted panel sequencing in the clinical molecular diagnosis of the Chinese families affected with inherited retinal dystrophies (IRDs). METHODS: The clinical information of 182 probands affected with IRDs was collected, including their family history and the ophthalmic examination results. Blood samples of all probands and their relatives were collected and genomic DNA was extracted by standard protocols. The first 91 cases were subjected to the WES and the other 91 cases were subjected to a specific hereditary eye disease enrichment panel (HEDEP) designed by us. All likely pathogenic and pathogenic variants in the candidate genes were determined by Sanger sequencing and co-segregation analyses were performed in available family members. Copy number variations (CNVs) detected by HEDEP were further validated by multiplex ligation-dependent probe amplification (MLPA). As PRGR ORF15 was difficult to capture by next generation sequencing (NGS), all the samples were subjected to Sanger sequencing for this region. All sequence changes identified by NGS were classified according to the American College of Medical Gene-tics and Genomics and the Association for Molecular Pathology (ACMG/AMP) variant interpretation guidelines. In this study, only variants identified as pathogenic or likely pathogenic were included, while those variants of uncertain significance, likely benign or benign were not included. RESULTS: In 91 cases with WES, pathogenic or likely pathogenic variants were determined in 30 cases, obtaining a detection rate of 33.00% (30/91); While in 91 cases with HEDEP sequencing, pathogenic or likely pathogenic variants were determined in 51 cases, achieving the diagnostic rate of 56.04% (51/91), and totally, the diagnostic rate was 44.51%. HEDEP had better sequencing coverage and read depth than WES, therefore HEDEP had higher detection rate. In addition, HEDEP could detect CNVs. In this study, we detected disease-causing variants in 29 distinct IRD-associated genes, USH2A, ABCA4 and RPGR were the three most common disease-causing genes, and the frequency of these genes in Chinese IRDs population was 11.54% (21/182), 6.59% (12/182) and 3.85% (7/182), respectively. We found 43 novel variants and 6 cases carried variants in RPGR ORF15. CONCLUSION NGS in conjunction with Sanger sequencing offers a reliable and effective approach for the genetic diagnosis of IRDs, and after evaluating the pros and cons of the two sequencing methods, we conclude that HEDEP should be used as a first-tier test for IRDs patients, WES can be used as a supplementary molecular diagnostic method due to its merit of detecting novel IRD-associated genes if HEDEP or other methods could not detect disease-causing va-riants in reported genes. In addition, our results enriched the mutational spectra of IRDs genes, and our methods paves the way of genetic counselling, family planning and up-coming gene-based therapies for these families.
DNA Copy Number Variations ; Humans ; Mutation ; Pedigree ; Retinal Dystrophies/genetics* ; Whole Exome Sequencing

Animals ; Cell Cycle Proteins ; biosynthesis ; genetics ; Cell Differentiation ; Cell Line, Tumor ; metabolism ; Gene Expression Regulation, Neoplastic ; drug effects ; Genes, Tumor Suppressor ; Humans ; Intracellular Signaling Peptides and Proteins ; Molecular Sequence Data ; Neoplasm Metastasis ; RNA, Messenger ; biosynthesis ; genetics ; Tretinoin ; pharmacology

Objective To study the effects and current mechanism of low concentration of lidocaine on evoked-bursting (EB) firing of dorsal root ganglion (DRG) neurons in rat model of chronic compression (CCD) of DRG . Methods Twenty-four SD rats were divided into normal control group (n=12) and CCD model group (n=12). CCD group was treated with chronic oppression on L4 and L5 DRG with L shape bar. Normal control group received no treatment. In vivo intracellu?lar recording was used to record the incidence of EB and the effect of lidocaine on subthreshold membrane potential oscilla?tion (SMPO). Patch clamp recording was used to record the effect of lidocaine on persistent sodium current (INaP). Results The incidence of EB increased in CCD group( 45.97%, 57/124), which was significantly different when compared with nor?mal group (χ2=26.810, P<0.01). The magnitude of SMPO, INaP and EB were inhibited in a reversible way by lidocaine (50μmol/L). Conclusion The low concentration of lidocaine might play an analgesic effect in peripheral nervous system by se?lectively inhibiting INap, which participates in SMPO formation.

OBJECTIVE:To analyze the rationality of the preventive use of antibiotics in Chinese ophthalmologic patients with type Ⅰ incision.METHODS:By means of retrospective study,a total of 1 273 ophthalmologic cases from 113 hospitals of 2006～2007 from National Monitoring Network of Ministry of Health for Clinical Application of Antibiotic with type Ⅰ incision involving preventive administration of antibiotics via different routes were analyzed.RESULTS:The local administration (eye drops and local injection) was rational on the whole,but the systemic administration (intravenous or oral administration) was irrational to some degree in which the drug grade was on the high side,the antibacterial spectrum was inappropriate,and the medication time was delayed.CONCLUSION:Preoperative local administration and rational use of dosage forms should be emphasized in the preventive use of antibiotics for patients undergoing ophthalmologic surgery.

Objective To observe the clinical therapeutic effect of Shudu Bushen Recipe (Recipe to strengthen the spine and reinforce the kidney) on ankylosing spondylitis at active stage.Methods Totally 165 patients with ankylosing spondylitis at active stage were randomly divided into a treatment group (85 cases) and a control group (80 cases).Both groups were treated with Sulfasalazine and Aceclofenac,and the trentment group was given Shudu Bushen Recipe additionally.Six-month treatment was one course.The clinical changes such as morning stiffness,joint pain and function,erythrocyte sedimentation rate (ESR),C-reactive protein (CRP),immunoglobulin (Ig),X-ray of sacroiliac joint,and adverse reaction were observed.Results In the treatment group,the total effective rate was 94.12%,superior to that in the control group (76.25%),with a significant difference (P0.05).The adverse reaction occurred in the treatment group was less than that of the control group (P