0.05). The total costs were(1 184.93?321.72),(1 532.59?426.35) and (1 830.35?311.83)yuan, respectively(P

Tuberous sclerosis complex (TSC) is an involving multiple organs and tissues of the rare autosomal dominant genetic disease.There are various clinical manifestations in patients with TSC and its diagnosis based on clinical characteristics.Diagnostic criteria of TSC include clinical diagnosis and gene diagnosis standard.

Objective To evaluate the value of digital subtraction angiography(DSA) in diagnosis and planning endovascular treatment of cerebrovascular diseases. Methods Thirty-one children suspected with ischemic cerebrovascular diseases were treated by urokinase and dextran after they underwent DSA.Results Twenty-four cases (77%) had cerebrovascular abnormalities. Two cases had arteriovenous malformations, 1 case had posterior communicating artery aneurysm,21 cases had cerebrovascular stenosis or occlusions. Shortly after intervention therapy using urokinase,muscle strength increased by one level in 13 cases,two levels in 3 cases,3 levels in 2 cases and no effect in 4 cases. The total effective rate reached 86%. Seven patients with ischemic stroke achieved 100% recanalization. Conclusion DSA is very important in diagnosis of cerebrovascular stenosis and occlusion.

Objective To study the factor affecting the efficiency of establishment of parthenogenetic stem cells (PESCs)in mice. Methods PESC lines were derived from parthenogenetically activated blastocyst inner cell mass of different mice strains and cultured in different systems.Results The efficiency of establishing the pESC showed no significant difference in hybrid and inbred lines.But the efficiency was increased in culture systems added with ERK inhibitor or knockout serum replacement(KSR).Conclusion The efficiency of establishment of pESC was not directly related with the genetic background of mice but it was closely related to the culture systems.

Tuberous sclerosis complex (TSC) is a genetic disorder affecting every organ system, but disease manifestations vary significantly among affected individuals.The diverse and varied presentations and progression can be life-threatening with significant impact on quality of life.The 2012 international Tuberous Sclerosis Complex Consensus Recommendations provide an evidence-based, standardized approach for optimal clinical care provided for individuals with TSC.

Objective To investigate the clinicopathological features of primary hepatocellular carcinoma of the liver(PCCCL)and assess the over-all survival rate of PCCCL after hepatectomy and the association between prognosis and clear cell ratio in PCCCL.Methods The clinicopathological data of 43 patients with PCCCL treated with hepatectomy in our hospital from January 1999 to December 2003 were retrospectively analyzed.Results X2 test showed a positive rate of HCV infection(14.0%)and capsule formation(88.4 0A)in the PCCCL group markedly higher than the positive rate of HCV infection(1.2%)and capsule formation(65.0%)in the CHCC group(P=0.000 and 0.005).Meanwhile,the vascular invasion rate was notably Iower in the PCCCL group(53.4%vs.65.0%),but there were no significant differences between the two groups(P=0.129).Kaplan-Meier method showed that the1-,3-and 5-year survival rates were significantly higher in the PCCCL group than in the CHCC group(81%,53%and 39%vs.76%,46%and 32 0A,P=0.021).The prognosis of patients in the PCCCL group was related to capsule formation.vascular invasion,liver cirrhosis and clear cell ratio.The 1-,3-and 5-year survival rates were markedly higher in the group with higher clear cell ratio (≥75%,subgroup B)than in group with lower clear cell ratio(＜75%,subgroup A)(80 0A,43%and 23%vs.85 0A,77% and 68%,P=0.011).Conclusion The notable clinicopathologicaI features of the patients with PCCCL are higher rates of HCV infection.capsule formation and lower rate of vascular invasion.Their prognosis is better than the patients with CHCC and related with the ratio of clear cell.

Tic disorders (TD) is a kind of neuropsychiatric disorders developing during childhood and cha-racterized by tics.In August 2020, the TD Consortium Neurology Group of Chinese Pediatric Society, Chinese Medical Association has developed an English version of Expert Consensus on Diagnosis and Treatment of Tic disorders in children to help improve the diagnosis, treatment and long-term management of TD, as well as international communication.Now the consensus is interpreted as follows, including its pathophysiology, clinical characteristics, diagnosis, comorbidity, treatment and prognosis.

Objective To explore the activity of Elemene for glioma cell from the cellular and molecular level. Methods The human glioma cell U251 was cultured. The effect of Elemene for human glioma cell proliferation was studied by MTT assay. Cell cycle, Fas, PCNA, bcl-2, intracellular Ca~(2+) and apoptosis were evaluated by flow cytometry analysis. Results Elemene exhibited antiproliferative effect on human glioma cell U251 markedly. The fifty percent inhibition on concentration (IC_(50)) of Elemene against glioma cells at different time points. 24 h was 40.60 μg/ml, the 48 h 38.14 μg/ml and the 72 h 34.35 μg/ml.Cell cycle was blocked in the S and G_2/M phases. The apoptosis ratio was increased by Annexin V staining markedly. Elemene decreased the gene expressions of PCNA and Fas, increased the intracellular Ca~(2+). There was no significant effect on the bcl -2 gene expression. Conclusion Elemene exhibits a marked antiproliferative effect on glioma cells and induces apoptosis by decreasing the expression of PCNA and increasing intracellular Ca~(2+). It also influences the expression of Fas. It might have no relationship with bcl-2 gene expression.

The increasing identification of genetic causes for epilepsy over the recent years improves the understanding of the underlying epileptog enic process,and allows for the possibility of directed therapeutic approaches.An ideal antiepileptic therapy consists of a drug which is able to influence the functional changes caused by a specific pathogenic variant.In this review,we describe the current precise medicine approaches in genetic epilepsies.Currently established or investigated precise medicine treatments include the ketogenic diet in patients with glucose transporter typel (GLUT1) deficiency,sodium channel blockers in patients with KCNQ2 mutations,and mechanistic target of rapamycin (mTOR)-inhibitors in patients with SCN2A and SCN8A mutations.These predominantly represent already available treatments that were repurposed for use in epilepsy.The development of new therapeutic agents aiming at targets identified in genetic epilepsies will advance epilepsy treatment considerably.

ObjectiveTo observe the effect of recombinant human interleukin-11 combined with ciclosporin in treatment of giucocorticoid invalid idiopathic thrombocytopenic purpura.MethodsFrom August 2009 to August 2011,35 cases with glucocorticoid invalid idiopathic thrombocytopenic purpura patients were divided into two groups according to the treatment method:13 cases in control group were treated with ciclosporin and 22 cases in observation group were treated with recombinant human interleukin-11 at basis of above method.The clinical effect and platelet counts between two groups were compared.Results The total effective rate in observation group was 90.9％ (20/22),which was significantly higher than that in control group [53.8％ (7/13)] (P ＜0.05).After treatment,the platelet counts in both two groups were significantly increased [control group:( 112.5 ± 15.4) × 109/t vs.(13.2 ± 1.8 ) × 109/L; observation group:( 132.7 ± 22.3 ) × 109/L vs.(12.9 ± 1.6) × 109/L] (P ＜ 0.05 ).Moreover,the platelet counts after treatment in observation group was significantly more than that in control group (P ＜ 0.05).ConclusionRecombinant human interleukin-11combined with ciclosporin in treatment of glucocorticoid invalid idiopathic thrombocytopenic purpura is a good treatment scheme,which can be applied in clinic.