Objective: To reveal the clinical and genetic features of neonatal/infantile epileptic disorders caused by KCNQ2 mutations and to provide a clue for the treatment and prognosis evaluation. Methods: Twenty-two patients were collected in the Department of Pediatrics, Peking University First Hospital from April 2007 to July 2016.The phenotype-genotype analysis was conducted of the neonatal/infantile epileptic patients in whom a KCNQ2 mutation was identified by the targeted next generation sequencing. Results: Twenty-two de novo KCNQ2 missense mutations from 22 patients with neonatal/infantile epileptic disorders were found.These patients had an onset of epilepsy in early infancy (median age: 2 days). The seizure type of the first onset was mainly focal seizure.Atypical absence epilepsy, a novel phenotype of KCNQ2 mutation-induced epilepsies was found.The mortality of these patients was high, as 5 patients of the 22 patients died in the follow-up period, 4 of which might result from sudden unexpected death in epilepsy.In the 22 patients, 8 patients with anti-epileptic monotherapy became seizure-free.Of the 8 patients with a monotherapy, 3 patients were treated with valproic acid and no clinical onset was observed. Conclusions This study expands the phenotype of KCNQ2-related epileptic disorders.These patients have high mortality.Valproate acid is the potentially effective monotherapy for these patients.

OBJECTIVETo investigate Lanzhou area cases of hepatitis C virus (H-CV) infection with a 5'-non coding region (NCR) 2i genotype and core (C), envelope protein (E) and non-structural protein (NS5) 2a genotype and the relationship with therapeutic response to interferon-alpha (IFNa).

METHODSNine patients who received IFNa-based treatment for HCV between 2007 and 2009 at the Second People's Hospital of Gansu Province were selected for analysis.Restriction enzyme analysis was carried out for the 5'-NCR and sequencing was carried out for the other gene areas.The relationship between genetic variants and IFNaresponse was examined.

RESULTSOf the total nine HCV cases treated with IFNa-based therapies, five of the patients achieved sustained virological response (SVR), which included two cases with type 2 genotype and three cases with no MboI restriction enzyme point of tangency (i.e.type 1b). The remaining four patients that did not achieve SVR included one case of type 2a, with a 1b and 2a mixed state, and one case with 5'-NCR 2i genotype and C area, NS5 area 2a genotype; the other two cases had 5'-NCR and C area type 1b. Of the five cases with 5'-NCR 2i genotype, all had C 2a genotype and two had C/E 2a and NS5 2a genotypes.The seven patients that showed no response to ordinary IFNa were converted to long-term IFNa plus ribavirin combination antiviral treatment; five (71.4%) of the cases showed response in HCV RNA level and the patients treated with the pegylated form showed greater response.

CONCLUSIONHCV genotyping can only provide information on the particular region of gene sequence examined, and it is important to sequence all gene regions where mutations related to antiviral drug response are located. Peg-IFNa-2a combined with ribavirin may achieve better therapeutic effect in patients infected with 2i/2a recombinant forms of HCV.

Angiogenesis Inhibitors ; Antiviral Agents ; Drug Therapy, Combination ; Genetic Variation ; Genotype ; Hepacivirus ; genetics ; Hepatitis C, Chronic ; drug therapy ; Humans ; Interferon-alpha ; Open Reading Frames ; Polyethylene Glycols ; Recombinant Proteins ; Recombination, Genetic ; Ribavirin ; Treatment Outcome

In this study, two methods--the supernatant hemoglobin spectrophotometry, i.e. hemolysis percentage measurement(according to ISO/TR 7405) and the hemiglobincyanide measurement(according to ISO 10993-4)--were used to assay the hemolytic properties of hydroxyapatite(bioceramics) and collagen (polymer). The results showed that the conclusions drawn from using the two methods were basically consistent, and the latter was more sensitive, stable and comparable. However, some of the procedures in the hemiglobincyanide method were not defined in details. So based on our experiments we have offered some suggestions and improvements, which do not deviate from ISO and ASTM standards, for hiher practicability of usig it in standardizing the evaluation of the hemolytic properties of biomaterials. Hemiglobincyanide measurement is worthy of wider application.
Animals ; Collagen ; Durapatite ; Hemoglobins ; Hemolysis ; Humans ; Materials Testing ; methods ; Methemoglobin ; analogs & derivatives ; Rabbits

AIM:To investigate the effect of tribu saponin from Tribulus terrestris(STT) on the lipoprotein lipase(LPL) and hepatic lipase(HL) activity in lipid metabolic disorder mice.METHODS:Mice being fed lipodiet were taken in STT through the experiment with Fenofibrate as positive control drug.Four weeks later,the levels of LPL in the plasma,the adipose tissue,liver tissue,muscular tissue and the levels HL activity in the plasma,liver tissue were estimated with LPL and HL Kit.RESULTS:HL activity in liver tissue in lipid metabolic disorder group was significantly lower than that in STT,Fenonbrate and normal group(P0.05).In STT group,the LPL activity in adipose was lower(P

AIM: To study medical effect of the antioxidation activity of essential oil from smell storusbill(Pelargonium graveolens,L'Her)(PLO) METHODS: Free radicals(O?_2、?OH and DPPH?)scavenging activities were investigated in different special chemical systems.Its anti-lipoperoxidantion activity was studied with MDA generation model in vitro.The effect of the hemolysis of cavy RBC induced by H_2O_2 was also studied.The components of PLO was identified by GC-FID. RESULTS: It was found that PLO showed higher anti-lipoperoxidantion on MDA generation spontaneously in homogenates of cavy heart,liver and kidney.There were significant differences on lipid peroxidant of the cavy liver homogenate induced by CCl_4 between control group and PLO.There were higher scavenging effect of the extracts of foliage on O?_2 and DPPH?PLO could strongly inhibit the hemolysis of cavy RBC induced by H_2O_2.The result of GC-FID and DPPH? scavenging activities indicated that the antioxidantion of citronellol was similar with PLO. CONCLUSION: PLO is a good antioxidation and citronellol is the main antioxidated substance in PLO.

Aim To investigate the Yiqi Yangyin Qingre Oral Liquid(YYQ) on insulin resistance in hyperglycemic fatty rats.Methods The model of hyperglycemic fatty rats was induced by intravenous injection with a low dose of streptozotocin(STZ) and a fed high fat and high caloric diet.The YYQ was given via gavage for a period of 4 weeks.The fasting blood glucose(FBG),oral glucose tolerance(OGT),serum insulin(INS),triglyceride(TG),total cholesterol(TC),free fatty acid(FFA)levels,glucose infusion rate(GIR) by euglycemic hyperinsulinemic clamp technique as well as erythrocyte insulin receptors(INSR)of rats were tested when the experiment was finished.The weight of the epididymal fat pads and the perirenal fat pads were measured.The IR,IRS-1mRNA expressions in liver tissue were measured by RT-PCR technology.Results YYQ treatment decreased the levels of FBG,TC,TG,LDL-C,FFA and increased the level of HDL-C in hyperglycemic fatty rats.As compared with the model rats,glucose tolerance was improved and body weight was reduced in hyperglycemic fatty rats treated with YYQ.Moreover,YYQ treatment upregulated IR,IRS-1mRNA expressions in liver tissue and increased insulin receptor amounts on the erythrocytes surface as well as GIR in the hyperinsulinemic euglycemic clamp experiment.Conclusions YYQ ameliorated insulin resistance in hyperglycemic fatty rats,and its mechanism might be related to increment of INSR and stimulation of insulin pathway.

Objective: To study the antihyperglycemic effect of flavonoids from seed (FSH) and fruit(FFH) of Hippophae rhamnoides L.on diabetic rats induced by streptozotocin (STZ). Methods: The STZ-induced diabetic rats were randomly divided into four groups and were given intragastrically (ig) water, metformin, FSH and FFH respectively once a day. After four weeks, the levels of serum glucose, fructosamine, lipid, protein, GSH and lactic acid (LD) were assayed. Results: FSH could reduce the levels of serum glucose, fructosamine and triglyceride significantly, increase the contents of serum total protein and albumin obviously, enhance the ability of antioxidation in STZ-induced diabetic rats. FSH also could decrease food and water intake of diabetic rats evidently. But FSH had little effect on LD, LDH, glycogen and body weight in diabetic rats. FFH was not as good as FSH. Conclusion: FSH is antihyperglycemic , and can improve the metabolic derangements of STZ- induced diabetic rats.

Objective: To study the hypoglycemic activity of polysaccharides from Tremella aurantialba mycelium (TMP). Methods: The anti-hyperglycemic effect of TMP was investigated in normal mice and diabetic rats induced by alloxan in comparison with phenformin and acarbose. Results: TMP not only decreased serum glucose level in normal mice, but also in diabetic rats. After i.g.TMP to hyperglycemic rats for 1w, the glucose and TG in serum were decreased obviously , but serum TC did not change remarkably. After i.g. 100 mg/(kg ?d) TMP to hyperglycemic rats for 23 d, liver glycogen and BLA did not change significantly, but serum glucose was reduced obviously compared with the control . Conclusion: TMP has obvious hypoglycemic activity and can reduce hyperlipemic complications.