As one of the serious complications of diabetes, diabetic retinopathy( DR) has become a main eye disease which causes blindness. The occurrence and development of DR is related to many factors. The pathogenesis is complicated, and the mechanism has not been clear. Early data suggest that the occurrence and development of DR has relations with many factors such as blood sugar level, diabetes duration and the environment. Among the factors, mitochondrial dysfunction and oxidative stress is the important mechanisms of DR and has become research focus in recent years. Consequences of mitochondrial dysfunction within cells include elevation of the rate of reactive oxygen species( ROS) production due to damage of electron transport chain proteins, mitochondrial DNA ( mtDNA ) damage, and loss of metabolic capacity. Clear understanding on the mechanism of mitochondrial functional change under high sugar level and oxidative stress response in the occurrence and development of DR is of great significance on prevention and cure of DR. ln this article, the development of mitochondrial metabolism and oxidative stress of DR is reviewed.

Objective To investigate the clinical features and genetic basis of cryopyrin-associated periodic syndrome (CAPS). Methods The clinical manifestations, laboratory tests, and genetic tests of one case of CAPS were retrospectively analyzed. The related literatures were reviewed. Results A 7 year and eight month old male patient had recurrent fever for 7 years and his whole body was covered with patchy red rash which was itchy and faded with pressure. The limbs and joints were normal. The levels of high-sensitivity C-reactive protein, erythrocyte sedimentation rate, rheumatoid factors were increased. The patient had fundus arteriosclerosis, double conjunctival lesions and nerve deafness on both sides. There was no mutation found in NLRP3 gene coding region, but a heterozygous mutation (-2667G>T) had been found in 5 ' untranslated region. Compared with normal control, the mRNA level of NLRP3 increased 4.2 times and the expressions of IL-1βand IL-18 gene increased 2.2 (P=0.002) and 1.2 times (P>0.05). Conclusions The clinical features of CAPS can be recurrent fever, rash, and joint involved. The oph-thalmologic abnormalities and varying degrees of deafness may occur during the progression. The test of NLRP3 gene may help diagnosis.

Objectives To explore the clinical features and diagnosis of LMNA-associated congenital muscular dystrophy. Methods The clinical data from a case of muscular dystrophy caused by LMNA gene mutation were retrospectively analyzed. The related literatures were reviewed. Results A 8-month-old female infant suffered from weakness of raising head, eyelid droop, and motor development retardtion. LMNA gene was sequenced for the infant, her parents and the older sister. Heterozygous mutation of c. 94_96 del AAG (p. K 32 del) was found in the infant leading to the diagnosis of LMNA- associated congenital muscular dystrophy. No mutation was found in the infant’s parents and her older sister. The literature review showed that all ofLMNA- associated congenital muscular dystrophy patients had LMNA gene mutation, more than 80% patients mainly presented with weakness of raising head and may accompany with weakness of proximal limb, motor development retardation, and weakness of axial muscle. Conclusions Mutation analysis of LMNA gene is conducive to the diagnosis of congenital muscular dystrophy.

Objective To investigate the molecular mechanism of calreticulin ( CRT) transcription induced by HBV and its viral proteins. Methods The human hepatocellular cell line, HepG2, was trans-fected with pHBV1. 3 and eukaryotic expression plasmids of HBV viral proteins, respectively. The expres-sion of CRT was measured after transfection. A reporter plasmid of CRT promoter was constructed to analyze the induction of CRT promoter by pHBV1. 3 and HBV viral proteins. Furthermore, two truncated and one C/EBPα site deficient mutants were constructed to evaluate the regulatory effects of HBx on CRT promoter. Fi-nally, HepG2 cells were transfected with HBx expression plasmids and the cellular localization of C/EBPαwas analyzed. Results In this study, pHBV1. 3 could significantly up-regulate the expression of CRT at mRNA and protein levels as well as enhancing the activity of CRT promoter. Among the seven HBV viral proteins, HBx could enhance the activity of CRT promoter and the expression of CRT at mRNA and protein levels. HBx could not induce the transcription of CRT when the C/EBPα binding site was deleted from the CRT promoter. The expression of HBx could promote the nuclear translocation of C/EBPα. Conclusion HBV and its viral protein HBx could up-regulate the CRT expression at transcriptional level. The transcrip-tional factor C/EBPα played a critical role in HBx-induced transcriptional activation of CRT.

AIM:To investigate the protective effect of nerve growth factor combined with Ginkgo biloba extract on retinal ischemia-reperfusion (RIR) injury in rabbits with experimental high intraocular pressure.METHODS:Establishment of rabbit glaucoma ischemia reperfusion model.Twenty-four New Zealand white rabbits were randomly divided into three groups:nerve growth factor group, Ginkgo biloba extract group and combination group.Respectively, in the continuous administration of 1, 7, 14d.We observed the morphological changes of the tissues of the retina.The levels of superoxide dismutase(SOD), nitric oxide(NO) and malondialdehyde(MDA) in retinal tissue were measured.RESULTS:Respectively, first, in the continuous administration of 1, 7, 14d, the contents of MDA and NO in Ginkgo biloba extract group and nerve growth group were higher than that in combination group (P<0.05).Secondly, the SOD content of Ginkgo biloba extract group and nerve growth group were lower than that of combination group at each time point (P<0.05).At each time point, the number of HE staining of retinal ganglion cells (RGCs) showed that the loss of RGCs in the combination group was significantly lower than that in the other groups, and the ganglion cell count showed that the Ginkgo biloba extract group and the neuronal growth group were lower (P<0.05).CONCLUSION:Nerve growth factor combined with Ginkgo biloba extract has better protective effect on retinal ischemia-reperfusion injury.The mechanism may be related to the decrease of free radicals and increase the activity of SOD in retinal tissue.

Extracellular single-unit discharge recording technique was used to examine the effects of Ginkgolide B (BN52021) on the discharges of neurons in CAI area of hippocampal slices and to elucidate the mechanisms involved.The results showed that:(1) In response to the application of ginkgolide B (0.1,1,10 βμmol/L; n =43) into the perfusate for 2 rain,the spontaneous discharge rates (SDR) of 42/43 (97.67%) neurons were significantly decreased in a dose-dependent manner; (2) Pretreatment with L-glutamate (L-Glu,0.2mmol/L) led to a marked increase in the SDR of all 10 (100%) neurons in an epileptiform pattern.The increased discharges were suppressed significantly after ginkgolide B (1 μmol/L) was applied into the perfusate for 2 rain; (3) In 8 neurons,perfusion of the selective L-type calcium channel agonist,Bay K 8644 (0.1 μmol/L),induced a significant increase in the discharge rate of 8/8 (100%) neurons.Ginkgolide B (1 μmoL/L) applied into the perfusate inhibited the discharges of 7/8 (87.5%) slices; (4) In 8 neurons,the broad potassium channels blocker,tetraethylammonium (TEA,1 mmol/L) completely blocked the inhibitory effect of ginkgolide B (1 μmol/L).These results suggest that ginkgolide B can inhibit the electrical activity of CAI neurons.The inhibitory effect may be related to the blockade of L-type voltage-activated calcium channel and may be concerned with delayed rectifier potassium channel (KDR),which indicated that ginkgolide B play a protective role on the central neurons.

Objective To investigate SLC25A13gene mutation in neonatal intrahepatic cholestasis caused by citrin defi-ciency (NICCD). Method A total of 17 children with NICCD were collected. PCR-RFLP method was used to analyze the most common eight mutations of SLC25A13 gene in Chinese populations and results were analyzed together with routine laboratory examinations. Results In the 17 NICCD patients, there were six cases of homozygous mutation, three cases of compound heterozy-gous mutation and eight cases of single heterozygous mutation in SLC25A13 gene. Three kinds of mutations detected were 851del4 (73.1%), 1638ins23 (11.5%) and IVS6+5G>A (15.4%). The seventeen cases showed classical NICCD symptoms of low birth weight, pathological jaundice. And laboratory data suggested liver dysfunction, hyperbilirubinemia, hyperbileacidemia, hy-poproteinemia, hypoglycemia, coagulation disorders, hyperlactacidemia and hyperammonemia. Conclusions 851del4, 1638ins23 and IVS6+5G>A are hot spots of SLC25A13 gene mutation in Chinese populations. PCR-RFLP is a rapid, convenient and reliable technology for NICCD molecular diagnosis.

Objective To investigate the association of single nucleotide polymorphism (rs2295080) inmTOR gene with the susceptibility to acute leukemia (AL) in Chinese children.Methods A case-control study was performed by recruitment of 180 children with AL and 296 healthy children as controls. The genotype of this SNP was detected using PCR-RFLP. The data were analyzed by SPSS19.0.Results There was a signiifcant difference in genotypes in three groups (ALL, AML and con-trol) (P=0.026). And the SNP was associated with AL, with G allele being higher in AL group than that in controls (OR=1.413, 95%CI: 1.050-1.901,P=0.022). In ALL group, G allele was also higher than that in healthy group (OR=1.456, 95%CI: 1.052-2.015, P=0.023). However, no signiifcant association was observed in AML patients (P=0.302). In addition, ALL patients with GG gen-otype were associated with disease severity compared with patients with TT or GT genotype (OR=2.044, 95%CI: 0.569-7.341). ConclusionThe rs2295080 was associated with ALL, with G allele being a risk factor.

Objective To use warm needling moxibustion plus Julisanjie Bolus for the treatment of hysteromyoma and explore a new way to treat hysteromyoma. Method A treatment group of 40 hysteromyoma patients received warm needling moxibustion plus Julisanjie Bolus; a conventional treatment group of 40 hysteromyoma patients, Julisanjie Bolus; a control group of 40 hysteromyoma patients, mifepristone. The therapeutic effects were compared between the treatment group and the conventional treatment or control group. Result The cure rate and the total efficacy rate were 12.5% and 97.5%, respectively, in the treatment group, 5.0% and 75.0%, respectively, in the conventional treatment group and 5.0% and 72.5%, respectively, in the control group. Conclusion The therapeutic effect was significantly better in the treatment group than in the conventional treatment and control groups (P<0.05). There were no obvious adverse reactions during the clinical trial of warm needling moxibustion plus Julisanjie Bolus for the treatment of hysteromyoma.

OBJECTIVETo summarize the experiences of using cardiopulmonary bypass for patients with serious airway obstructive lesions.METHODS From Sept. 2013 to Jan. 2015, 3 cases with serious airway obstructive lesions underwent operation safely with the assistance of cardiopulmonary bypass.RESULTSAll of 3 cases were successfully managed by tracheotomy under cardiopulmonary bypass without hemodynamic disturbance and coagulation dysfunction.CONCLUSIONSevere airway obstructive lesion could be relieved successfully under the cardiopulmonary bypass. Complications can be avoided effectively by shortening the time of cardiopulmonary bypass.