Objective To explore the clinical and genetic characteristics of complex glycerol kinase deficiency (GKD). Methods The clinical data of 2 cases of complex GKD were analyzed and the related literatures were reviewed. Results Both cases were male onset in neonatal period, and had hypocorticalism (hyponatremia, hyperkalemia, dehydration), hypercreatine kinasemia, and pseudotriglyceridemia. Gene detection suggested that there was gene deletion in chromosome Xp21 region. In the follow-up, one case had good control of the disease and one died of infection. Conclusions Complex GKD is an X-linked recessive hereditary disease. It is rare and complicated, and is easily misdiagnosed. Early diagnosis and treatment are beneficial to improve the prognosis.

Objective To study the effects and mechanism of calycosin on oxidative stress andβ-cell apoptosis induced by streptozotocin (STZ). Methods RIN-m5F cells were divided into 5 groups:control group, STZ group, STZⅠgroup, STZⅡgroup and STZⅢgroup. The control group did not receive any treatment, while streptozotocin was added to the final concentration of 10 mmol/L in STZ group, STZⅠgroup, STZⅡgroup and STZⅢgroup. After the incubation with STZ for 6 h, calycosin was added to a final concentration of 10, 50 and 100 μmol/L in STZⅠgroup, STZⅡgroup and STZⅢgroup respectively. The cell viability and apoptosis was detected by CCK-8, LDH, caspase 3 and Tunel assay. The intracellular oxidative stress was measured using mitochondrial membrane potential, DCFH-DA, SOD activity and malondialdehyde levels assay. RIN-m5F cells were divided into control group, calycosinⅠgroup, calycosinⅡgroup and calycosinⅢgroup, which were treated with different concentrations (0,10, 50 and 100 μmol/L, respectively) of calycosin. The expression of NF-E2-related factor 2(Nrf2) in RIN- m5F cells was detected by Western blot. The translocation of Nrf2 was detected by immunofluorescence. In RIN-m5F cells were divided intoⅢgroup andⅣgroup,Ⅳgroup was pre-treated with protein kinase C(PKC) inhibitor. The effects of calycosin on Nrf2 translocation, oxidative stress and apoptosis were also observed. Results STZ could induce the accumulation of reactive oxygen species and apoptosis in RIN-m5F cells. Calycosin did not affect normal RIN-m5F cells, whereas it reduced the oxidative stress and apoptosis induced by STZ in a dose-dependent manner. The expression of Nrf2 in RIN-m5F cells was not affected by calycosin, whereas it promoted the translocation of Nrf2 into nucleus. The ability of calycosin promoting Nrf2 translocation was decreased after PKC inhibitor treatment, and PKC inhibitor could also significantly attenuate the anti-oxidant and anti-apoptotic ability of calycosin. Conclusions This study shows that calycosin may play an anti-oxidative and anti-apoptotic role by activating PKC to promote Nrf2 translocation, which is expected to be used as a new clinical drug for the prevention and treatment of diabetes mellitus.

Objective:To develop the screening checklist of brief interview for autism disorder suitable for Chinese children and evaluate its reliability and validity.Methods:Based on existed research results and diagnostic criteria for autism spectrum disorder of DSM-5, the screening checklist of brief interview for autism spectrum disorder(SCAD) was developed. A sample of 238 children were selected for investigation and 28 of them were retested for test-retest reliability with 2-4 weeks interval. Cronbach's α coefficient, split-half correlation coefficient, test-retest reliability, and evaluator consistency were used to test the reliability of the scale. Content validity, construct validity and empirical validity were used to test the validity of the scale.All statistical analysis were conducted by SPSS 22.0 and AMOS 17.0.Results:The SCAD contains two components and six dimensions, with a total of 25 items. The Cronbach's α coefficient was 0.936 for the total scale and were 0.938, 0.771 for the two components. The split-half coefficient for the total scale and the two components were 0.962, 0.938 and 0.794. The test-retest reliability for the total scale and the two components were 0.806, 0.795 and 0.766. The Kendall coefficient for the total scale and the two components were 0.968, 0.982 and 0.950. The SCAD item-level content validity index (I-CVI) ranged from 0.66 to 0.98 and the Kappa value ranged from 0.66 to 0.98. The scale-level content validity S-CVI/UA and S-CVI/Ave were 0.89 and 0.94. The correlations between SCAD and calibration tests such as ABC, CARS and M-CHAT were 0.54, 0.53 and 0.87, and the correlation coefficients with the M-CHAT-R/F between the two components were 0.87 and 0.76 respectively (both P<0.01). The result of CFA demonstrated that the model fitted the data with well construct validity(χ 2/ df=0.910, RMR=0.049, AGFI=0.974, RMSEA=0.010, PNFI=0.530, PCFI=0.533, NFI=0.994, RFI=0.988, CFI=1.000). The correlation coefficient of the two components was 0.88 and that with the total scale were 0.97 and 0.90, each dimensions with the total scale ranged from 0.72 to 0.93. Conclusion:The SCAD has a good reliability and validity, and it can be used as a clinical screening tool for children with autism spectrum disorder.

When the skin barrier is damaged, surgical dressings are often used to cover wounds, sustain skin barrier, protect the injured area, prevent bacterial infection, and promote wound healing. However, at present, traditional dressings will be come stiffing as it absorbs the exudates of wound and sometimes cause secondary injury to the wound during the application process, which aggravate the pain of patients without analgesic effect. For this reason, the medical staff from Northern Jiangsu People's Hospital designed a new antibacterial analgesic dressing that can reduce the pain and increase the antibacterial ability. The dressings provide a sterile, moist environment to facilitate wound healing. Meanwhile, this dressing has the advantages of low cost, safeness and effectiveness, which can reduce the frequency of dressing changes, the possibility of wound infection, the pain and the medical expenses, which is worthy of clinical promotion.