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.

Objective: To develop a new quantitative determination method for the biological activity of recombinant human ciliary neurotrophic factor. Methods: Dorsal root ganglions were derived from the chick embryo and dispersed into single neuron cell,The rhCNTF was added to neuron cells and incubated for 64 hours,The activity of acid phosphatase in neuron cells was determined and the biological activity of rhCNTF was analyzed quantificationally. Result: rhCNTF could promote original era dorsal root neuron cells of chick embryo surviving,the livability of neuron cells was positively related to the amount of rhCNTF added to the culture. Conclusion: A quantitative determination method for the biological activity of rhCNTF was developed by testing the activity of acid phosphatase in neuron cells. Compared with the typical ways,this method was quantificational easily,repeatable better and with much fewer disturbance factors.

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.

Objective:To design functionality glasses in order to solve or alleviate various visual disorder during cycloplegia.Methods:Based on the principle of the polarizing lens and pinhole lens, the glasses frame was combine with them so as to be suitable for the recovery of cycloplegia and for the usage in near and distant vision situation.Results: This glasses has a series of advantages including small size, light weight, convenience and beauty. Through the combination of different lenses, the symptom of visual unclear during cycloplegia wasimproved, and the symptom of glare and squint in distant vision also was improved. Besides, the symptom that adjustment of near vision couldn't be activated was improved, and near vision blurry leaded by peripheral aberration coming from mydriasis also was improved. On the other hand, this device was easy and simple on combination and was convenient on usage.Conclusion: This design contributes to correct refractive error, and enhance the definition of near or distant vision. And it is suitable for various situation of usage including near, distant, indoor and outdoor.

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 obeserve the effects of acute hypervolemic hemodilution(AHH) with hypertonic .sodium chloride hydroxyethyl starch 40(HSH 40) on hemodynamics and fluid balance in patients under general anesthesia.Methods Fifty patients undergoing radical surgery for gastral cancer under general anesthesia were randomly divided into 2 groups with 25 patients each.Acute hypervolemic bemodilution (AHH) was performed with HSH 40 6 ml/kg in group A or with hydroxyethyl statch(HES) 6 ml/kg in group,which was infused within 30 minuts.HR,MAP,CVP were recorded before(T_0),at 30 min (T_1),60 min (T_2) after infusionand and the end of operation (T_3).The amounts of bleeding,HSH 40 and HES and urine output were recorded as well.Results There were no significant diferences in HR and MAP between two groups at all time points.CVP was sighificantly higher at T_1-T_3 than that at To in two groups.The urine output was more in groups A than that in group B(P<0.05).Conclusion AHH with HSH 40 can effectively expand blood vlume and increase urine output in surgical patients under general anesthesia.