Tuberous sclerosis complex (TSC) is a genetic multisystem disorder that has an impact on many organ systems.It is a common neurocutaneous syndrome in children, the main clinical manifestations characterized by impairment of skin and nervous system.The most frequent neurological symptoms are seizures,which occur in up to 90％ of patients and often are intractable,followed by autism spectrum disorders, intellectual disability, attention deficit-hyperactivity disorder, and sleep, et al.Conventional treatment has frequently proven insufficient for neurological and behavioral symptoms, particularly seizure control.Currently, there are many studies focus on the mechanism-based treatment in TSC.Therefore, this review will focus on the genetic mechanism of TSC, further exploring personalized medicine and prognosis for TSC shows good prospects.

Objective To evaluate the CT appearances and diagnostic value of malignant obstructive jaundice.Methods The CT signs of malignant obstructive jaundice proved by surgery and pathology in 50 cases were analyzed ,among them ,there were 21 cases of cholangiocarcinoma,15 cases of the head of pancreas, 8 cases of ampullary carcinoma, 4 cases of gallbladder carcinoma and 2 cases of cholangiocarcinoma complicated with gallbladder carcinoma.Results CT features of malignant obstructive jaundice included dilatation of the bile ducts which presented as“soft rattan sign”,other findings were “truncation sign”,“soft tissue mass”,“double duct sign”,lymphadenopathy and ascites .Conclusion CT examination has important value in diagnosing malignant obstructive jaundice. It can supply accurate location and causes of obstructive jaundice.

Objective　To establish a rapid,effective,convenient method for detecting human adenoviruses and other viral pathogens using magnetic bead separation and PCR amplification.Methods　A biotinylated oligonucleotide primers were hybridized to adenovirus DNA in stool samples.Setreptavidin coated magnetic beads were then added to isolate the DNA-oligonucleotide hybrid.The procedure allows for the recovery of viral DNA suitable for amplification by polymerase chain reaction.Results　Ten samples collected from clinical stool were detected; six of them were positive.Results indicated that this nucleic acid separation technology is very effective in concentrating and purifying adenoviruses DNA while removing PCR inhibitors in stool samples.It also effectively increase the sensitivity of PCR amplification.Conclusion　This technique can rapidly,reliably detect adenoviruses in clinical samples,and it can be used to detect other viral pathogens.

Stem cells are crucial for embryonic development and in the maintenance of adult cellular homeostasis.Understanding the regulatory network of stem cells,including embryonic and adult stem cells,will allow us to learn the pathogenesis and possibly design novel approaches to treat many diseases (such as cancer and degeneration).The retinoblastoma (Rb) pathway controls cellular proliferation,differentiation and death.More and more evidences support an important role of Rb activity in the biology of stem and progenitor cells.Transiently inactivating Rb pathway might favor the expanding of functional stem cell populations,thus have values in the future stem cell applications.

Objective To observe the expressions of DNA methyltransferases (DNMTs) 1,3a and 3b in retinoblastoma (RB).Methods Sixty-two RB samples and six normal retinas were studied,including 17 poorly differentiated and 45 well differentiated samples; 16 invasive and 46 non-invasive samples.The expressions of DNMT1,3a,and 3b,and Ki-67 were detected using immunohistochemical analysis.Brown staining of nuclei was considered to represent the positive stain for DNMT1,3a and 3b,and ki-67,blue staining as negative.The level of high expression of nuclear staining was,positive cells in DNMT1≥65 ％,in DNMT3a≥60％ and in DNMT3b≥40％.The correlations of DNMT1,3a and 3b expression in RB samples,and MIB-1 labeling index were analyzed.Results Viewed under the light microscope,negative expressions of DNMT1,3a and 3b were demonstrated in normal retinas,however,positive expression was observed in RB samples,with 100％ in DNMT1,98％ in DNMT3a and 92％ in DNMT3b.Comparing well differentiated RB samples with poorly differentiated samples,significant differences were found in high expression of DNMT1 (x2 =12.57,P＜0.05) and DNMT3a (x2 =10.54,P＜0.05) ; also in the positive cells of DNMT1 (U=179,P＜0.05) and DNMT3a (U=198,P＜0.05).No significant difference was found comparing high expression (x2=1.5,P＞0.05) and positive cells (U=307,P＞0.05) of DNMT3b.When comparing invasive tumor tissues with non-invasive tumors,significant differences were shown between high expression (x2 =4.72,P＜0.05) and positive cells comparing DNMT1 (U=236,P＜0.05).No significant difference was shown in high expression (x2=3.53,0.84; P＞0.05) in DNMT3a and DNMT3b,or in comparison with positive cells (U=338,257; P＞0.05).The expression of DNMTs was positively correlated with the MIB-1 labeling index in RB tissues (R2=0.554,0.376,0.219; P＜0.05).Conclusion There are high expressions of DNMT1,3a,and 3b in RB.

Objective To observe the expression and relationship of high-mobility group A(HMGA) 1,HMGA2,MIB-1 labeling index (LI) and let-7 in retinoblastoma (RB).Methods Forty-four RB samples were studied,including 11 poorly differentiated samples,33 well-differentiated samples; eight invasive and 36 non-invasive samples.The expression of HMGA1,HMGA2 and MIB-1 LI in RB were analyzed by immunohistochemitry.The HMGA1,HMGA2 were scored on a scale of 0 to high expression.0: no expression ; low: 1％ - 10 ％ ; medium: 11 ％ - 50 ％ ; high: ＞50 ％.The MIB LI were scored on a scale of 0to high expression.O: no expression;low: 1％ - 40％;high: ＞ 40％.Semiquantitative reverse transcription-polymerase chain reaction was used to assay the let-7 expression level: ≥ 80％ showed no significantly decreased expression; 60％ - 79％ showed medium decrease in expression; ＜ 60％ highly decreased in expression.Results In 44 RB samples,there were 14 cases with no HMGA1 expression (32％),11 cases with low expression (25％),10 cases with medium expression (23％),and nine cases with high expression (20％).Expression level of HMGA1 was significantly higher in poorly differentiated RB than in well-differentiated RB (x2 =11.3,P＜0.01) ; however,no statistically significant difference was found between invasive tumors and noninvasive tumors (x2 -5.9,P＞0.05).There were 11 cases with no HMGA2 expression (25％),11 cases with low expression-(25％),nine cases with medium expression (20％),and 13 cases with high expression (30％).Expression level of HMGA2 was significantly higher in poorly differentiated and invasive RB than in well differentiated and noninvasive RB respectively (x2=20.9,8.7; P＜0.05).There were 4 cases with no MIB-1 LI expression (9％),18 cases with low expression (41％),and 22 cases with high expression (50％).Expression level of MIB1 LI was significantly higher in poorly differentiated RB than in well-differentiated RB (t=5.2,P＜0.05).Higher expression of MIB-1 LI was found in invasive tumors than in noninvasive tumors,with no significant difference (t=-1.1,P＞0.05).Twenty seven cases had no significantly decreased expression of let-7 (61％).There were eight cases with medium decreased expression (18％) and nine cases with highly decreased expression (21％).Correlation analyses revealed that MIB1 LI expression significantly correlated with HMGA1and HMGA2 proteins (r=0.327,0.602; P＜0.05).A significantly inverse correlation existed between let-7 expression and HMGA1,HMGA2 proteins and MIB-1LI respectively (r=-0.247,-0.310,-0.392; P＜0.05).Conclusions Overexpression of HMGA1,HMGA2 and MIB-1 LI and down regulation of let-7 were demonstrated in RB.Supplying let-7 to RB cells can possibly inhibit HMGA1 and HMGA2 expression.

ObjectiveTo explore the relationship between the different body mass index (BMI) ranges and all cause mortality in hemodialysis (HD) patients. MethodsEligible studies assessing the effects of BMI ranges on all-cause mortality(published from 1966 to 2012 )were searched, using hemodialysis/haemodialysis and obese/body mass index/overweight andmortality/surwival/reverse epidemiology/obesity paradox in PubMed,Embase,ScienceDirect,Wilcy,Scopus and Ovid. Inclusion criteria were that trials reported mortality in HD patients according to the traditional WHO/NIH BMI classification,and BMI levels were acceptable within 2 kg/m2.The quality of the trials was evaluated using the assessing risk of bias in studies included in Cochrane reviews.The mortality rate in HD patients was the primary endpoint of the study.ResultsWith no significant heterogeneity ( I2 =0％,P =0.45 ),a fixed-effects model was used for analysis.Four studies with a total of 81 423 patients met final inclusion criteria.Compared to individuals with non-elevated BMI levels,the elevated group (BMI ≥25 kg/m2) was associated with lower all-cause mortality ( OR 0.67,95％ CI 0.65-0.68 ). In a risk-adjusted sensitivity analysis,elevated BMI levels remained protective against mortality( adjusted HR 0.94,95％ CI 0.92-0.96 ).ConclusionsHigh BMI levels are associated with lower all-cause mortality rate in HD patients.More stable hemodynamic status,cytokine and neurohormonal alternations,and nutritional status maybe contribute to the protective effects of BMI on the mortality of HD patients.There is a need for more prospective studies to elucidate underlying mechanisms.

Objective :To study the effect and mechanism of retinoic acid(RA) on thymocytes development. Methods:Thymus tissue culture system was used to investigate the roles of RA in maturation development of thymocytes. Thymus tissues were cultured with or without retinoic acid and/or retinoic acid receptor antagonist. The cultures were harvested after 24, 48 and 72 hours, respectively. Thymocytes were stained with fluorescence labeled anti-CD3, anti-CD4, anti-CD8 antibodies and analyzed by flow cytometry. The real time quantitative RT-PCR assay was used to detect the retinoic acid receptor (RAR) mRNA expression in thymocytes. Results:The thymus tissue culture system was able to support the maturation of thymocytes. Addition of RA to the culture system promoted thymocytes differentiation from immature CD4+CD8+ cells to mature CD4+ cells, but inhibited the transformation from immature CD4+CD8+ cells to mature CD8+ cells. The effect was marked after 24h culture, and was antagonized by Ro41-5253. RA enhanced the expression of RAR mRNA in thymocytes. A positive correlation was found between the expression of RAR mRNA and the percentage of CD4+CD8+ cells and a negative correlation between the expression of RAR mRNA and the percentage of CD8+ cells. Conclusion:RA likely play an important role in thymocytes development, perhaps by affecting the relative expression of RAR gene.

Objective To study the changes in pulmonary diffusing capacity (DL), alveolar capillary membrane diffusing capacity (Dm) and pulmonary capillary blood volume (Vc) in patients with severe acute respiratory syndrome (SARS), and to elucidate the underlying pathophysiogical mechanism of reduction of pulmonary diffusing capacity. Method Spirometry was performed in 26 SARS patients and 12 healthy individuals in resting condition. DLco were measured by single breath method, estimations of Dm and Vc were done by the method of Roughton and Forster. Results DLco in SARS patients was significantly lower than that in normal control, the same was true for Dm and Vc. The severer the pulmonary lesion, the heavier the damage to the pulmonary diffusing funetion. Conclusion The changes in Dm and Vc were both found in patients with SARS. Their measurements were helpful for detecting pulmonary involvement in SARS and defining the reason of DL abnormality in SARS. Dm and Vc were important and sensitive for monitoring pulmonary diffusing function in SARS patients

Objective To study on the changes of the IL-6、IL-8、TNF-? in the type 2 diabetes with insulin resistance and the relation of plasma glucose or insulin resistance and cytokines. Methods (1) To assay the serum level of cytokines in 90 cases with type 2 diabetes mellitus (T2DM) and 30 normal controls. (2)To measure the level of fasting plasma glucose (FPG),hemoglohin A_1c (HBA_1c),fasting insulin(FINS),fasting C-peptide (FCP).(3) To analysis the relation of the level of FPG,HBA_1c,FINS,FCP and cytokines. Results (1) The serum levels of cytokines in T2DM group were significantly increase than in control groups,IL-6 and TNF-? in T2DM group with insulin resistance were significantly increase than in T2DM group without insulin resistance (2) There was significantly positively correlated between insulin resistance and the increasing of cytokine levels. Conclusion There is an excess activation of cytokines in T2DM,which is significantly correlated with insulin resistance. Cytokines play the important role in the occurrence and development of T2DM and insulin resistance.