Objective To determine the role of SCN1A gene variation in the development of familial febrile seizures (FS).Methods Clinical data were collected from 8 familial FS pedigrees, and peripheral venous blood samples were collected from the probands and other available family members. All 26 coding exons and exon-intron boundaries at least 50 bases of the human SCN1A gene were amplifled by polymerase chain reaction, the products were subsequently sequenced. To novo variation, other family members were screened for the corresponding exons. Two hundred age-matched healthy children were served as normal controls. ResultsA total of 33 variations in the SCN1A gene were identifled in these families. Of these variations, one was a missense mutation; the remaining 32 variations were previously submitted as single nucleotide polymorphisms (SNPs). A c.2650G>A heterozygous missense mutation in exon 15 of the SCN1A gene found in the proband of family 4 was inherited from his father who had seizures with fever in early childhood. The c.2650G>A mutation was absent in the 400 alleles of normal controls. To the best of our knowledge, the SCN1A c.2650G>A mutation has neither been reported in the NCBI SNP database nor in the literature to date. The c.2650G>A mutation changes a glycine at amino acid 884 in the SCN1A protein to a serine (p.Gly884Ser). Protein sequence analysis showed that the p.Gly884Ser is located at a highly conserved region between the 4th and 5th transmembrane segment of the homologous domain Ⅱ of voltage-gated sodium channel 1 subunit (DIIS4-S5). ConclusionsThe pathogenesis of familial febrile seizures was related to the SCN1A variation, the mutation outside the region of the voltage sensor (S4) and ion channel pore (S5-S6) of the voltage gated sodium channelα-subunit may be an important factor to cause mild phenotype epilepsy syndrome.

Objective To analyze the effect of clinical temporomandibular joint (TMJ) functional training for prevention of trismus in nasopharyngeal carcinoma (NPC) patients treated with radiotherapy.Methods According to the performance of patients clinical TMJ functional training, 43 NPC patients treated with three-dimensional conformal radiation therapy (3DCRT) and 82 NPC patients treated with general twodimensional radiation therapy were assigned respectively to the study group and the contrast group. The clinical TMJ functional training on patients of the study group was performed regularly and intensively under good guidance and supervision from the beginning of radiotherapy. The clinical TMJ functional training on patients of the contrast group was performed without such strict supervison after the first guidance. The size of the distance was measured between the incisors of the patients of the study group and the contrast group before radiotherapy and the final follow-up within two years after radiotherapy. Results The reduction of the distance between the incisors were [(0.64±0.59) cm] in the study group of 3DCRT in contrast to the [(0.81±0.64) cm] in the contrast group (P ＞0.05). The incidence of trismus was 8.1% in the study group of 3DCRT in contrast to the 21.1% in the contrast group (P ＞0.05); The reduction of the distance between the incisors were [(0.72±0.65) cm] in the study group of general two-dimensional radiotherapy in contrast to the [(1.64±0.73) cm] in the contrast group (P ＜0.01). The incidence of trismus was 19.0% in the study group of general two-dimensional radiotherapy in contrast to the 47.5% in the contrast group (P ＜0.01). Conclusion TMJ Functional training method is the good method that can lower the severity and the incidence of trismus in NPC patients treated with radiotherapy. It is more evident and more important for patients with general twodimensional radiotherapy.

Specimens from 12 cases of pancreatic endocrine tumors were investigated by light and electron microscopy and immunohistochemical staining. Pancreatic stem cell-like cells with special characteristics of pancreatic stem cell were found in the proliferating small ductules and dispersed at the margins of pancreatic endocrine tumors in all the cases studied.

OBJECTIVE:To systematically review the efficacy and safety of Xiyanping injection versus Ribavirin injection in the treatment of herpangina in children,and provide evidence-based reference for clinical treatment. METHODS:Retrieved from PubMed,Cochrane Library,EMBase,VIP Database,CJFD,Wanfang Database and CBM,randomized controlled trials (RCT) about efficacy and safety of Xiyanping injection versus Ribavirin injection in the treatment of herpangina in children were collected. Meta-analysis was performed by using Rev Man 5.3 software after data extracting and quality evaluating by modified Jadad. RE-SULTS:Totally 14 RCTs were enrolled,involving 1 939 patients. Results of Meta-analysis showed total effective rate [OR=4.69, 95%CI(3.36,6.55),P<0.001],fever clearance time [MD=-1.36,95% CI(-1.60,-1.12),P<0.001],herpes regression time [MD=-1.34,95%CI(-1.61,-1.06),P<0.001],hospitalization time [MD=-1.88,95% CI(-3.68,-0.07),P=0.04] and sali-vation disappearance time [MD=-1.07,95% CI(-1.30,-0.84),P<0.001] of Xiyanping injection were significantly better than Ribavirin injection,there were statistically significant differences. And there was no significant difference in the incidence of ad-verse reactions [OR=0.56,95% CI(0.31,1.03),P=0.06]. CONCLUSIONS:The efficacy of Xiyanping injection is better than Rib-avirin injection in the treatment of herpangina in children,with similar safety.

OBJECTIVE: To study the mechanism and clinical significance of specific immunotherapy (SIT) on the expression changes of GM-CSF and IL-5 in the tissue samples of recurrent nasal polyps. METHOD: Perennial allergic rhinitis patients with recurrent nasal polyps were randomly divided into 2 groups. The experimental group of 19 patients was treated by SIT and standardized treatment (glucocorticoid nasal spray) , and the control group of 17 patients was only treated by standardized treatment (glucocorticoid nasal spray). We measured the expression levels of GM-CSF and IL-5 in the tissue samples of the nasal polyps by ELISA, and compared the results obtained before treatment with expression levels detected at 6 months and 1 year after the treatment. RESULT: The expression of GM-CSF and IL-5 in the recurrent nasal polyps reduced significantly (P < 0.05) in both groups after 6 months and 1 year post-treatment compared with pre-treatment, and the expression of GM-CSF and IL-5 in the experimental group was much lower than that of the control group. CONCLUSION SIT decreases the expression of GM-CSF and IL-5 and reduces the inflammatory reaction in the tissue samples of recurrent nasal polyps.
Enzyme-Linked Immunosorbent Assay ; Granulocyte-Macrophage Colony-Stimulating Factor ; metabolism ; Humans ; Immunotherapy ; Inflammation ; drug therapy ; Interleukin-5 ; metabolism ; Nasal Mucosa ; pathology ; Nasal Polyps ; drug therapy ; metabolism ; Rhinitis, Allergic, Perennial ; drug therapy ; metabolism

Objective To study the effect of Tspan 8 on metastasis and invasion of human hepatocellular carcinomas(HCC).Methods RT-PCR and western blot were used to detect the expressions of Tspan 8 in HCC cell lines,HCC and matched nontumorous tissues.The expression of Tspan 8 was then down-regulated by LV/GFP/Tspan 8 in HCC cells.The expressions of Tspan 8 mRNA and protein were determined by RT-PCR and Western blot assay,respectively.The proliferation was examined by MTT,the expression of AMDM12 was assessed by Western blot,and the invasion ability of HCC cells was evaluated by transwells.Results A high level of Tspan 8 was found in high metastatic potential HCC cells,and the expression of Tspan 8 in HCC tissues was much higher than that in the matched nontumorous tissues. Down-regulation of Tspan 8 had no influence on the proliferation of HCC cells (P＞0.05),while it inhibited the expression of ADAM12 and the invasive ability of HCC cells (P＜0.01,P＜0.01 respectively).Conclusion Tspan 8 played an important role in invasion and metastasis of human hepatocellular carcinomas and down-regulation by LV/GFP/Tspan 8 inhibited the invasiveness of human hepatocellular carcinoma cells.

Objective To study the role of bone morphogenetic protein-7 in the osteogenic differentiation of periosteal cellsin vitro. Methods Periosteal cells, obtained from adult tibial periosteum, were cultured by routine method in vitro, and divided into two groups. One group cultured with BMP7 and the supplements of 100 nmol dexametasone, 10 mmol b-glycerophosphate and 50 mg/mL L-ascorbic acid (BMP7 group), the other cultured with the supplements alone as the control (control group). Ultrastructure and morphological changes of periosteal cells were observed by contrast phase microscope and electron microscope. In order to test the expression of markers of osteoblastic differantiation in periosteal cells, involved mineralized node and alkaline phosphatase. Each group was tested at the time of 5 d, 10 d, 15 d, 20 d, respectively, using ALP kit stain and Von Kossa stain with 3 samples at each time. Results The periosteal cells cultured by routine method and induced into osteoblast differentiation with BMP7 were both growing well, in vitro. Microscope observations showed that the periosteal cells were spindle-shaped, well-stacked, transparent and three-dimensional in the early stage, and cube-shaped or puncheon shaped in the mitotic phase, gradually became wide shuttle and irregular shape with a lot secretion in telophase. The positive cells were visible by the ALP kit staining and Von Kossa staining of calcium nodules at 5 d, 10 d, 15 d and 20 d in both groups.A difference of positive rate at each time point was found between BMP7 group and control group at 5 d, 10 d, 15 d, 20 d, and the difference was statistically significant (P ＜ 0.01). Conclusion It displayed well regeneration and osteogenesis ability in the periosteal cell. BMP7 has definite osteo-inductive activity, which can obviously enhance the proliferation and ossifyng differentiation of periosteal cells.

Objective To observe the damage of various organs of rats with exertional heatstroke (EHS), and to investigate the protective effect of oral rehydration salts Ⅲ (ORSⅢ) on multi-organ function in rats with EHS. Methods Fifty-one male Sprague-Dawley (SD) rats were randomly divided into four groups by random digit table: normal control group (n = 13), EHS group (n = 13), EHS+water group (n = 12), and EHS+ORSⅢ group (n = 13). All rats in the EHS groups received adaptive training for 7 days before the experiment. On the 8th day, the rats of EHS+water and EHS+ORSⅢ groups were orally given 20 mL/kg water or ORSⅢ 30 minutes before the experiment. No pretreatment was performed in the EHS group. EHS model was reproduced by forcing rats to run under hot environment. The rats which refused to exercise and which core temperature > 40.5 ℃ were considered as the onset of EHS. The rats in the normal control group were exposed to room temperature (25±2) ℃ and humidity (50±5)% without any treatment. Six hours later, blood of inferior vena cava was collected, and the levels of serum MB isoenzyme of creatine kinase (CK-MB), lactate dehydrogenase (LDH), alanine transaminase (ALT), aspartate transaminase (AST), serum creatinine (SCr), blood urea nitrogen (BUN), serum potassium, serum sodium and serum chloride were determined by automatic chemical analyzer. Serum intestinal fatty acid-binding protein (I-FABP) was determined by enzyme linked immunosorbent assay (ELISA). Results The levels of LDH, ALT, AST, BUN, serum sodium and serum chloride in the EHS group were significantly higher than those in the normal control group [LDH (U/L): 1 220±427 vs. 837±485, ALT (U/L): 138 (97, 164) vs. 37 (33, 42), AST (U/L): 409 (380, 566) vs. 86 (78, 104), BUN (mmol/L): 11.7 (9.6, 13.2) vs. 5.9 (5.5, 6.1), serum sodium (mmol/L): 148.0 (143.5, 154.5) vs. 139.0 (138.0, 140.5), serum chloride (mmol/L): 100.9±2.3 vs. 97.3±1.4, all P < 0.05], but no significant difference in CK-MB, SCr or serum potassium could be found [CK-MB (U/L): 1 280±373 vs. 1 379±480, SCr (μmol/L): 38.2±7.5 vs. 35.5±6.3, serum potassium (mmol/L): 5.5 (4.4, 6.2) vs. 4.7 (4.4, 4.9), all P > 0.05]. In the EHS+ORSⅢ group, only serum potassium level was significantly lower than that in the EHS group [mmol/L: 4.0 (3.7, 4.4) vs. 5.5 (4.4, 6.2), P < 0.01], while no significant difference in other parameters was found between the EHS+ORSⅢ group and the EHS group as well as the EHS+water group. Serum I-FABP level in the EHS group was significantly higher than that in the normal control group [μg/L: 36.90 (29.10, 45.00) vs. 11.39 (0.31, 20.80), P < 0.01]. Serum I-FABP level in the EHS+water and EHS+ORSⅢ groups were notably lower than that in the EHS group [μg/L:24.19 (20.00, 28.36), 0.31 (0.31, 5.58) vs. 36.90 (29.10, 45.00), both P < 0.01], additionally, I-FABP level was much lower in the EHS+ORSⅢ group (P < 0.01). Conclusions EHS could lead to liver, intestinal barrier dysfunction and electrolyte disturbance. Pre-treatment of ORSⅢ could alleviate the intestinal dysfunction and electrolyte disorder caused by EHS in rats. It can lower the serum potassium to some extent. However, ORSⅢ failed to protect liver from EHS.

Objective:To solve the problems in intensity-modulated radiation therapy (IMRT) planning, such as large labor cost and high dependence on the experience of physicists and great inconsistency in the quality of plan, and to discuss an unsupervised automatic treatment planning procedure of IMRT.Methods:The eclipse scripting application programming interface (ESAPI) within the Eclipse treatment planning system (TPS) 15.6 and optimization parameters tree search algorithm (OPTSA) were used to emulate and realize the whole planning process. Interacted with the TPS through ESAPI, relevant dosimetric parameters were input and output. The OPTSA evaluated the plan qualities based on dosimetric parameters of the targets and organs at risk (OARs) and iteratively adjusted the optimization objective parameters to achieve a progressively improving IMRT plan. In order to verify the effectiveness of the automatic planning, twenty historical rectum cancer cases were selected from the clinical database, and the dose distribution and specific dosimetric parameters were compared between the plans generated by the OPTSA and the manual plans under the same constraints.Results:All the auto plans have met clinical requirements. Furthermore, 90% and 10% of the auto plans were deemed as clinically improved and equally compared with the manual plans, respectively. The average CI for the PTV was 0.88 and 0.80 for the auto and manual plans respectively. Compared with the manual plans, the mean doses of all the OARs in the auto plans were reduced by 11% in average. The average elapsed time of automatic planning and manual planning was (28.15±3.61) and (36.7±4.6) min, respectively.Conclusions:The plans created by the proposed algorithm have been shown to be at least as good as the manual plans. In addition, this method can shorten the labor time in plan designing while ensuring the plan quality and consistency of the plan.

The detection of early lung adenocarcinoma manifesting as ground glass nodule (GGN) is increasing. The promoting precision targeted therapy arises the need of radiomics (RM) and radiogenomics, a series of noninvasively radiological technology based on multiple modality, to assist the process including determination in diagnosis, treatment and follow-up strategy and release burden in clinical practice. RM, playing an important role in lung adenocarcinoma manifesting as GGN, can provide information towards the different components of the nodules, the analysis of peritumoral areas, the reduction of over diagnosis and treatment, the selection of targeted therapy and follow-up.