Objective To explore the role of Orexin in pathogenesisepilepsy and treatment of epilepsy based on the literatures published from 1998 to 2014 at home and abroad.Methods Searched the literatures from the online database including Pubmed,CNKI and Wanfang Datebases in July 2014.The words Orexin,epilepsy,Orexin receptor,epilepsy treatment were used as search terms.Analyze the effect Orexin and its receptors in the occurrence,development and treatment of epilepsy.Results 102 related literatures were retrieved and 30 were adopted into analysis.It was showed Orexin is a kind of excitatory neuropeptides and it can increase the excitability of cerebral cortex.Epilepsy can be induced bv excessive expression of Orexin.Conclusion Excessive expression of Orexin can cause epileptic seizure.Inhibiting the excessive activation of Orexin neurons is of important to control seiznres in clinical practices.

Objective To evaluate the effect of crisis intervention on prevention of patients with mental disorder who had suicide ideas or attempt to commit resuicide.Methods 280 patients with mental disorder,holding suicidal ideas or attempting to suicide were randomly divided into the intervention group and control group with 140 cases in each group.The diagnosis of all patients was accorded with the CCMD-3 criteria.The cases of the control group only accepted routine treatments and cares in the hospital,and drug maintenance therapy after discharge.The cases of the intervention group accepted a comprehensive treatment of crisis intervention except the routine treatments.All cases were evaluated when they were admitted and 6 and 12 months after discharged.Results After discharged 6 months and 12 months,the social supports and treatments compliance of the intervention group were better than that of the control group(P<0.01),while suicidal ideas and the numbers of suicides were less than the control group significantly.Conclusion The crisis intervention can improve patients' social supporting and treatment compliance,eliminate their suicide ideas,and prevent the patients committing resuicide significantly.

To explore the effect of advanced glycation end-products(AGEs)on cell viability and level of reactive oxygen species(ROS)in MIN6 cells. After intervention of various concentrations(100,200, and 400 mg/L)of AGEs for some time, cell viability was detected by MTT assay. 2', 7'-dichlorofluorescein diacetate(DCFH-DA)was used as a reactive oxygen species capture agent. The fluorescent intensity of 2', 7'-dichlorofluorescein(DCF), which was the product of cellular oxidation of DCFH-DA, was detected by flow cytometry. The level of ROS and insulin secretion was thus measured. Viability of MIN6 cells was inhibited by AGEs in a dose and time dependent manner(P＜0.05).Intracellular fluorescent intensity of DCF was markedly elevated in the AGEs groups as compared with that in the control group(P＜0.05).Insulin secretion was decreased in the AGEs groups than that in the control group(P＞0.05). The results suggest that AGEs inhibit the viability and induce oxidative stress in MIN6 cells by overproduction of ROS.

Objective To compare the two liver volume measurements using multi-slice spiral CT (MSCT)for clinical reference.Methods Twenty-four patients with hepatic disease awaiting orthotopic liver transplantation underwent muhiphase MSCT of the upper abdomen.Liver volumes using two measurements(manual volume measurement and semi-automated volume measurement)before transplantation were compared with the actual liver volume(ALV)measured during transplantation by means of water displacement.Both measurements were timed.Correlation coefficient.one way ANOVA and Bland-Altman tests were used for statistical analysis.Results The mean liver volume estimated with the manual method and the semi-automated method were(1360±157)cm3 and(1345±152)cm3.respectively.The actual liver volume was(1307±153)cm3.There was no significant diffierence between the volumes measured using the three methods(F=0.032,P＞0.05).For all the patients,there Was significant correlation between liver volume measured by MSCT and the actual liver volume.There was a good correlation between the liver volume measured by manual method and the actual liver volume(r=0.976,P＜0.05),so did the correlation between the liver volume measured by semi-automated method and the actual liver volume (r=0.987,P＜0.05).And the semi-automated method took much shorter time[(9.2±1.8)min]compared with the manual method [(23.2±5.8)min ].Conclusion Semi-automated method provided acceptable measurements for liver volume.

Objective To assess the value of magnetic resonance diffusion weighted imaging(DWI) and apparent diffusion coefficients(ADC) values of hepatic alveolar echinococcosis(HAE) in children.Methods 20 cases of children(≤14 years) with HAE were collected in this restrospective study.PNM staging was determined, the HAE peripheral area of DWI lesions with different P stages was observed, and the ADC value of the peripheral area was measured.The comparison of alveococcus lesions in different stages of DWI with continuous edge degree and ADC value difference was done to evaluate the growth activity.Results There were 5 cases of P1 lesions, 7 cases of P2 lesions, 2 cases of P3 lesions and 6 cases of P4 lesions.DWI features of peripheral area were as follows: High signal ring band between HAE lesion edge and adjacent normal hepatic parenchyma was observed.P1 lesions showed almost complete obviously high signal peripheral area, indicating the most active proliferation, P2 and P3 lesions of peripheral area were continuous and with high signal, and still had obvious growth activity.P4 lesions of peripheral area were not continuous, while the signal decreased, indicating the activity also decreased.The highest ADC value was detected in P1 lesions group of and the ADC value of P2 lesions group were lower than P1, and the ADC value of P4 lesions group were the lowest.P3 lesions samples were too small and thus no statistical analysis was done.Differences of ADC value between the three groups were statistically significant (P<0.05).Conclusion DWI image features could be used to assesse the growth activity of HAE in children with different stages to a certain extent.ADC values measurement provides important reference value for evaluating the growth activity at various stages of the lesions.

OBJECTIVETo detect potential mutation of the AGL gene in two siblings affected with glycogen storage disease type IIIa.

METHODSClinical data of the two siblings was collected and analyzed. Genomic DNA was extracted from peripheral venous blood samples from the patients and their parents. All exons and their flanking sequences of the AGL gene were subjected to PCR amplification and Sanger sequencing. Suspected mutation was verified in 75 healthy controls.

RESULTSThe main clinical features of the two siblings included hypoglycemia and hepatomegaly, along with markedly elevated liver and myocardial enzymes. Genetic analysis revealed that both siblings harbored compound heterozygous mutations c.1735+1G>T and c.959-1G>C of the AGL gene. Among these, the splicing mutation c.959-1G>C was a novel one with an allele frequency of <1%.

CONCLUSIONBased on their clinical features and genetic analysis, the siblings were diagnosed with glycogen storage disease type IIIa. The c.959-1G>C has enriched the spectrum of AGL gene mutations.

Adolescent ; Amino Acid Sequence ; Female ; Glycogen Debranching Enzyme System ; genetics ; Glycogen Storage Disease Type III ; genetics ; Humans ; Infant ; Male ; Mutation ; genetics ; Siblings

In recent years,hepatocellular carcinoma (HCC) has become one of the serious healththreatening malignancies worldwide,and its incidence and mortality rates continue to rise.Hepatitis B (HBV)is moderately endemic in China,with enormous numbers of HBV-related HCC cases.Although serum alphafetoprotein (AFP) and ultrasound are the major diagnostic methods for HCC,they have limited application for screening out early or small HCC.The current management of HCC is based on tumor size and location,not on suppressing tumorigenesis,and therefore patients are often faced with low 5-year survival and high relapse rates.Recent studies have shown that long-chain non-coding RNAs (lncRNAs) are closely associated with HCC tumorigenesis,which may have considerable utility as new diagnostic marker and treatment target for HCC.Here,we review the application of lncRNAs in the diagnosis,metastasis,treatment,recurrence,and prognosis of HCC.

Professor Takeyori Saheki's team at Kagoshima University, Japan, published a paper in Nature Genetics in June 1999, pinpointing the pathogenic gene for adult-onset type Ⅱ citrullinemia as SLC25A13 and naming the protein product encoded by this gene as citrin. Over the past 25 years, the researches have made positive progress on the pathophysiological mechanism, clinical phenotype, molecular diagnosis, treatment, and prognosis of citrin deficiency (CD) as an autosomal recessive genetic disease. Currently, three age-dependent clinical phenotypes of CD have been found, namely neonatal intrahepatic cholestasis caused by citrin deficiency, failure to thrive and dyslipidemia caused by citrin deficiency, and adult-onset type Ⅱ citrullinemia. Although relevant internal medicine drugs are being researched and developed while liver transplantation has been used for the treatment of CD patients, scientific dietary therapy remains the foundation, core, and key for the management of this disease. Furthermore, CD management involves the full life cycle of patients, requiring the joint efforts of basic and clinical medicine as well as systematic articulation at multi-levels, such as the parents, family, and society. By full-cycle, multidisciplinary, and systematic management, it is an achievable goal for CD patients to learn, work, and live in a healthy manner.

OBJECTIVETo investigate the clinical features and AGL gene mutations in a family with glycogen storage disease type IIIa (GSD IIIa).

METHODSClinical data for diagnosis, treatment and follow-up of a sick child with GSD III was collected and analyzed. Genomic DNA was extracted from the peripheral blood samples from the patient and his parents. Polymerase chain reaction and direct DNA sequencing were utilized to analyze all of the exons of the AGL gene.

RESULTSThe genotype of the child was found to be c.3710_3711delTA/IVS14+1G>T. The former was a maternally-inherited mutation, which has not been reported previously. The latter was an abnormal splice-site mutation inherited from the father.

CONCLUSIONBased on its clinical and molecular evidences, the patient was diagnosed as GSD IIIa in conjunction with retrobular optic neuritis.

Adult ; Asian Continental Ancestry Group ; genetics ; Base Sequence ; Child, Preschool ; China ; Female ; Glycogen Debranching Enzyme System ; genetics ; metabolism ; Glycogen Storage Disease Type III ; enzymology ; genetics ; Humans ; Male ; Molecular Sequence Data ; Pedigree ; Point Mutation

Background and objective Gemcitabine and taxanes are effective agents commonly used in advanced squamous lung cancer. hTe best treatment sequence, however, is unclear to our knowledge. So we conducted this retrospective study in order to compare the effcacy and toxicities of ifrst-line Gemcitabine+/-platinum followed by second-line taxanes+/-platinum with the reverse sequence. Methods We totally analyzed 105 patients with stage IIIb-IV squamous lung cancer in our retrospective study. hTere were 49 patients receiving gemcitabine+/-platinum ifrst-line followed by taxanes+/-plati-num second-line (G-T group), and 56 patients receiving taxanes+/-platinum ifrst-line followed by gemcitabine+/-platinum second-line (T-G group). hTe primary endpoint of the study was overall survival (OS), and the secondary endpoints included progression-free survival (PFS), objective response rate (ORR), disease control rate (DCR) and toxicities. Results hTe me-dian OS were 18.5 mo in G-T group and 19.0 mo in T-G group (P=0.520). hTe median PFS1 was 5.0 mo and 4.0 mo with ifrst-line gemcitabine+/-platinum and taxanes+/-platinum, respectively (P=0.584). hTe median PFS2 was 2.7 mo and 2.5 mo with second-line gemcitabine+/-platinum and taxanes+/-platinum (P=0.432). hTe ORR1 of G-T group and T-G group were 36.73%and 33.92%(P=0.577), and DCR1 were 79.59%and 89.29%(P=0.186);the ORR2 of G-T group and T-G group were 4.08%and 5.36%(P=0.085), and DCR2 were 51.02%and 66.07%, respectively (P=0.118). Hematologic toxicities was more frequent in G-T group, the patients experienced more grade 3-4 lower hemoglobin (P=0.027) and thrombocytopenia (P=0.002). Conclusion hTe effcacy of ifrst line gemcitabine+/-platinum followed by second line taxanes+/-platinum and the reverse sequence was similar, and the toxicities was tolerable. Both sequential patterns were effective in advanced squamous lung cancer.