Congenital idiopathic nystagmus (CIN) is characterized by monoocular or biocular involuntary,rhythmical,repeated oscillations.CIN is often referred to congenital 'motor' nystagmus since nystagmus occurs in the absence of a clinically demonstrable defect in the visual sensory system.CIN is genetically heterogeneous,and patterns of its inheritance have been well-known to include autosomal dominant.autosomal recessive and X-linked patterns.In recent years, many different genetic loci for CIN have been mapped,and researchers have found some candidate causing-disease genes.This review focuses on the recent advances of gene mapping and candidate gene analysis for molecular research of CIN.

Electricity ; Electrosurgery ; instrumentation ; Equipment Design ; Equipment Safety ; methods ; standards ; Guidelines as Topic ; Medical Errors ; prevention & control ; Surgical Equipment ; standards

Appling CAI to Formula-ology case study is good for improving students'capability of clinical practice.It will be helpful to improve students'ability to analyze and solve problems.It's also good for students'communication and cooperation,their self study and cultivation of creative thinking.

Objective To explore the inhibitory effects of RNAi targeting survivin to suppress the expression of survivin and to induce the apoptosis of human renal cancer cell line 786-O.Methods The target gene fragments were cloned into pcDNATM 6.2-GW/EmGFPmiR vectors,and then the recombinant eukaryotic expression vectors were transfected into 786-O cells with liposomes.The expression changes in survivin mRNA and protein were detected by RT-PCR and immunohistochemical assay,and the proliferation inhibitory rate (IR) of 786-O cells was detected by M'TT assay.Results The mRNA and protein expressions of survivin in the siRNA group were significantly inhibited by the eukaryotic expression vectors,and it also inhibited significantly the growth and proliferation of 786-O cells.Conclusion Silencing survivin gene by the RNAi technique can not only effectively decrease the expressions of survivin gene and protein,but also inhibit the cell proliferation in 786-O cells.This may provide the experimental evidence for the survivin gene as a target of gene therapy in renal cancer.

Objective To observe the serum cardiac troponin I (cTnI) level and to analysis the relations between the serum cTnI level and prognosis in patients with dilated cardiomyopathy (DCM) and Cardiac Dysfunction.Methods Serum cardiac cTnI level was measured by enzyme-linked immunosorbant assay. Results The serum cTnI level in DCM patients with class IV cardiac function (0.53 ?0.31) ?g/L was significantly higher than in DCM patients with class Ⅲ cardiac function (0.45?0.27) ?g/L.There was significantly difference in serum cTnI levels between DCM patients with class Ⅲ cardiac function and DCM patients with class Ⅱ cardiac function(0.29?0.27) ?g/L.Conclusion The higher serum cTnI level is correlated with the severity of cardiac function and may be useful for evaluating prognosis in patients with DCM.

Bone marrow mesenchymal cells (BMSCs) are regarded as donor cells in cell transplantation therapies for spinal cord injury (SCI) for they have the ability of favourable proliferation and multi-directional differentiation, and are easily isolated and culturd and have less immunological reaction. It has been confirmed that subarachnoid space injection is the most ideal delivery technique of BMSCs. Bone marrow mesenchymal stem cells transplantation is safe and its reconditioning role is certain for SCI in early clinical application. The mechanism of BMSCs promoting functional recovery after SCI is probably concerned with vicarious function, nerve trophism, immunosuppression and promoting axonal regeneration by BMSCs.
Animals ; Bone Marrow Cells ; cytology ; Humans ; Mesenchymal Stem Cell Transplantation ; methods ; Mesenchymal Stromal Cells ; cytology ; Spinal Cord Injuries ; surgery

In recent years,with the completion of the Human Genome Project and the development of mapping the Human Ge?nome Methylation Variable Site Map Plan,research on epigenetics and the generation and deveopment of cancer,epigenetic treatment drugs,especially the successful clinical application of the DNA methyltransferase and histone deacetylation inhibitors in the treatment of cancer patients,epigenetic has becoming a hot spot. This article reviews the recent progress in pharmacological action of epigenetics-based anticancer drugs,it may provide some new ideas to the therapy and fundamental research of cancer.

Objective To study the effect of poly(ADP-ribose)polymerase(PARP)inhibitor 5-AIQ on the adhesion,migration and invasion of mouse colon adenocarcinoma cell line(CT26).Methods The expression of PARP after 5-AIQ treatment was detected Western blot.The cell adhesion,migration and invasion of CT26 after 5-AIQ treatment were observed by cell-matrix adhesion assay,cell migration assay and matrigel invasion assay.Results The expression of PARP in 5-AIQ-treated CT26 was weaker than that in 5-AIQ-untreated cells(P

Objective To investigate the technical charactenstics ot SYSMEX XS1000i 5-part differential automated hematological analyzer and its clinical applications.Methods 209 samples were analyzed with the analyzer of XS1000i and compared to the results from Beckman-Coulter LH750 analyzer.The main parameters from XS1000i,such as precision within-run,day to day precision and carryover contamination rates etc,were recorded respectively in 509 samples to compare the difference between the instrumental and optical examination.Results All variation coefficients of precision from XSI000i were within the manufacturer.The carryover contamination rates of WBC,RBC,Hb,HCT and PLT were 0.19%,0.93%,0,-0.88%,-0.76%,respectively.The parameters of XS1000i were correlated with the results of LH750 except basophil granulocyte.The correlation coefficients of WBC,RBC, HGB and PLT were 0.994 5,0.996 8,0.997 0 and 0.974 6 ,respectively.The sensitivity of warning flags in immature leukocytes was 100% and the specificity was 69.7%,the sensitivity of warning flags in atypical lymphocyte was 100% and the specificity was 66.7%.Especially in 3 leukocytopenia that was induced by chemotherapy in patients with leukemia who had only few immature cells existed in the peripheral blood,the parameters of XS1000i were positive,and correlated with the results of detection of minimal residual disease with flow cytometry.Conclusions The warning system of XSIO00i provides more valuable information for manual microscopic examination.If it is combined with flow cytometry,the advantages in detection of residual leukemic cell will be fully displayed.

Abscess ; diagnosis ; microbiology ; surgery ; Bacteria, Aerobic ; isolation & purification ; Child, Preschool ; Female ; Fever ; Humans ; Prognosis ; Spleen ; pathology ; surgery ; Splenic Diseases ; diagnosis ; surgery ; Treatment Outcome