Genetic and clinical analysis of a novel ACTL6B gene variation related developmental epileptic encephalopathy with cherry erythema in the fundus / 中华神经科杂志

Objective:To investigate the clinical and genetic features of patients with ACTL6B gene variations, and to report novel pathogenic variations of the ACTL6B gene, summarize the clinical phenotypes and genotypes of the gene. Methods:The clinical phenotypes and genotypes of a infant with developmental epileptic encephalopathy carrying the ACTL6B gene variations, who visited the Department of Neurology, Capital Institute of Pediatrics-Peking University Teaching Hospital on March 12, 2021 were analyzed. The phenotypes and genotypes of patients carrying the ACTL6B gene variations reported in the literature were also summarized and analyzed. Results:The proband was a 2-month-old male presented with convulsive seizures, development delay, dystonia, and cherry erythema in the fundus. The whole exome sequencing of his family showed that he carried compound heterozygous variation c.937-2A>G(p.?), c.11delG(p.G4Afs *86) which derived from his parents respectively. These 2 genotypes had not been reported. A total of 42 cases with ACTL6B gene variation were reported in the literature and in this study. There were 11 de novo heterozygous variations and 31 bi-allelic variations inherited from the parents (24 homozygous and 7 compound heterozygous). Individuals with variations tended to have epilepsy, development delay, ambulation disability, speech disability and dystonia. Minor facial dysmorphisms and autism spectrum disorder also can be seen. Conclusion:This paper summarizes the clinical and genetic features of patients with ACTL6B gene variations, reports 2 novel variations and a novel combination of this gene with cherry erythema in the fundus.

Correlation analysis of TGF-β1, MMP-9, TIMP-1, IL-1, IL-4, IL-6, IL-17, and TNF-α in refractory chronic rhinosinusitis: A retrospective study

Objective: To investigate the potential correlation of transforming growth factor-β (TGF-β), matrix metalloprotein 9 (MMP-9), tissue inhibitor of metalloproteinases 1 (TIMP-1), Interleukin 1 (IL-1), IL-4, IL-6, IL-17, and tumor necrosis factor alpha (TNF-α) in refractory chronic rhinosinusitis.Methods: A total of 150 participants were retrospectively included in this study from August 2018 to February 2020. The people enrolled were equally allocated into refractory group (patients with refractory chronic rhinosinusitis), chronic group (patients with chronic rhinosi-nusitis), and control group (normal people). The level of TGF-β1, MMP-9, TIMP-1, IL-1, IL-4, IL-6, IL-17, and TNF-α were recorded. The unconditional multivariate binary logistic regression was used to analyze the factors affecting refractory chronic rhinosinusitis.Results: The Davos score, T&T olfactometer threshold test, and Lund-Mackay CT scores in refractory group were significantly higher than the chronic group (P<0.05). The level of TGF-β1, MMP-9, TIMP-1, IL-1, IL-4, IL-6, IL-17, and TNF-α in the refractory group were significantly higher than the chronic group and the control group (all P<0.05). Similarly, the level of the above mentioned indexes in the chronic group were significantly higher than the control group (P<0.05). The Davos score, T&T olfactometer threshold test score, Lund-Mackay CT score, and the level of TGF-β1, MMP-9, TIMP-1, IL-1, IL-4, IL-6, IL-17, and TNF-α positively correlated with refractory chronic rhinosinusitis. Moreover, the unconditional multivariate binary logistic regression showed that the influencing factors of refractory chronic rhinosinusitis included TGF-β1, MMP-9, TIMP-1, IL-1, IL-4, IL-6, IL-17, and TNF-α.Conclusion: The findings of the present study provide evidence for TGF-β1, MMP-9, TIMP-1, IL-4, IL-6, IL-17, and TNF-α as the influencing factors of refractory chronic rhinosinusitis (AU)

Orthogonal test design for the optimization of superparamagnetic chitosan plasmid gelatin microspheres that promote vascularization of artificial bone.

The optimal conditions for the preparation of superparamagnetic chitosan plasmid (pReceiver-M29-VEGF165/DH5a) gelatin microspheres (SPCPGMs) were determined. Then, the performance of the SPCPGMs during neovascularization was evaluated in vivo. The SPCPGMs were prepared through a cross-linking curing method and then filled into the hollow scaffold of an artificial bone. Neovascularization at the bone defect position was histologically examined in samples collected 2, 4, 6, and 8 weeks after the operation. The cellular magnetofection rate of superparamagnetic chitosan nanoparticles/plasmid (pReceiver-M29-VEGF165/DH5a) complexes reached 1-3% under static magnetic field (SMF). Meanwhile, the optimal conditions for SPCPGM fabrication were 20% Fe3 O4 (w/v), 4 mg of plasmid, 5.3 mg of glutaraldehyde, and 500 rpm of emulsification rotate speed. Under oscillating magnetic fields (OMFs), 4-6 µg of plasmids was released daily for 21 days. Under the combined application of SMF and OMF, evident neovascularization occurred at the bone defect position 6 weeks after the operation. This result is expected to provide a new type of angiogenesis strategy for the research of bone tissue engineering.

Salidroside-regulated Glucose Metabolism with Down-regulation of Micro RNA-370 in Type 2 Diabetic Mice / 医药导报

Objective To observe the effects of salidroside regulating glucose metabolism in type 2 diabetic mice,then to explore the molecular mechanism. Methods Type 2 diabetes model was induced by feeding high-fat diet and intraperitoneal injecting STZ to male C56BL/6J mice,then the glucose related indexes,micro RNA-370 levels in the serum and liver tissue and the expression of gluconeogenesis key protein(G6Pase and PEPCK) in the liver tissue to observe the treatment effects of salidro-side on type 2 diabetic-caused gluose metabolic disorder.In cell test,we isolated primary hepatocytes,then silenced or over-ex-pressed micro RNA-370 in mouse primary hepatocytes to observe the molecular mechanism of glucose metabolic regulation of the micro RNA-370 and salidroside. Results Treated with salidroside 40,80 and 160 mg·kg-1,the results showed that compared with the model control group,the glucose related indexes were all improved significantly.The relative expression levels of micro RNA-370 in serum and liver,and that of PEPCK and G6Pase all reduced in different degrees,dose-dependently.The changes of middle and high dose group decreased significantly(P<0.05),that of low dose group had a decreasing trend but no statistically significant.In the cell test,compared with the normal control group,salidroside alone group and micro RNA-370 inhibitor group were able to reduce the protein expression level of PEPCK and G6Pase(P<0.05),micro RNA-370mimic alone group can signifi-cantly increase the protein expression level of PEPCK and G6Pase(P<0.05),compared with the micro RNA-370mimic alone group,combining micro RNA-370 mimic and salidroside can significantly reverse the increasing caused by micro RNA-370 mimic alone(P<0.05). Conclusion Our research found that salidroside can improve glucose metabolism disorder in type 2 diabetic mice,and at least in part,through the suppression of micro RNA-370 expression for the first time.

Effect of acupuncture at points selected from different regions on SCF-kit signaling pathway in diabetic gastroparesis rats / 针灸推拿医学（英文版）

Objective: To observe the effect of acupuncture at points selected from different regions on the positive expression of interstitial cells of Cajal (ICC) and the stem cell factor (SCF) in gastric antrum tissues in diabetic gastroparesis (DGP) rats, and to explore the influence of region-based point selection on the acupoint combination efficacy. Methods: Sixty Sprague-Dawley (SD) rats were randomly divided into a normal group (group A), a model group (group B), a group of Zusanli (ST 36) plus Zhongwan (CV 12) (group C), a group of Zusanli (ST 36) plus Neiguan (PC 6) (group D), and a group of Zusanli (ST 36) plus non-meridian non-acupoint points (group E), based on the random number table (n=12). DGP rat model was established by single intraperitoneal injection of 2% streptozotocin and common diet. After successful modeling, the rats were treated once a day for 4 weeks. Positive ICC and SCF expressions were measured by immunohistochemistry. Results: Compared with group A, the gastrointestinal propulsion rate of group B showed a statistically significant decrease (P<0.05). Compared with group B, the gastrointestinal propulsion rate and the expression of ICC in the gastric antrum were significantly higher in group C, group D and group E, and the between-group differences were statistically significant (P<0.05); the expression of C-kit protein in group C was statistically significantly higher than that in group D and group E (P<0.05). The expression of SCF protein was significantly increased in group C than in group B, and the difference was statistically significant (P<0.05). Conclusion: Acupuncture can improve the symptoms of delayed gastric emptying in DGP model rats, and regulate the expression of ICC and SCF in gastric antrum tissues. The effect of Zusanli (ST 36) plus Zhongwan (CV 12) in the gastric region is superior to that of the Zusanli (ST 36) plus distal Neiguan (PC 6) or non-meridian non-acupoint point, indicating that region-based point selection is the key factor affecting the effect of acupoint combination.

Reiview of metabolic syndrome in TCM clinical and experimental studies / 国际中医中药杂志

The paper summarized the literature in recent 5 years about the researches on the metabolic syndrome (MS) in traditional Chinese medicine. The paper discussed the etiology and pathogenesis, summarized the clinical research and experiment of traditional Chinese medicine for MS.

Effect of collaborative nursing on the quality of life and care ability of stroke patients / 现代临床护理

Objective To explore the effect of collaborative nursing on the quality of life and nursing of stroke patients. Methods Toally 84 care-givers for 84 stroke patients hospitalized during February 2014 to March 2016 were chosen. In the control group(hospitalized from Feburary 2013 to Feburary 2014), traditional nursing was carried out, while in the research group(hospitalized from March 2014 to March 2016), the collaborative care intervention was done. The comparisons were done between the two groups in terms of quality of life and care ability by the GHQ-28 quality of life scale assessment, family caregiver task inventory (FCTI) before the intervention and 4 weeks after the intervention. Results Before the intervention, the two groups had no significant differences in life quality and care ability (all P > 0.05). After the intervention, the scores on symptoms, anxiety, depression, insomnia and social dysfunction were all significantly higher than those of the control group (all P<0.05). The scores on the care role, strain, assistance, personal emotion control, family assessment and community resources, and adjustment of life to meet the care needs were all significantly lower than those of the control group (all P<0.05). Conclusions The collaborative care is effective in improving the quality of life of stroke patients. It can improve the care ability of the caregiver.

Effects of antidepressant therapy on serotonin and tryptophan hydroxylase 2 in ovariectomized rats with depressive disorder / 中华行为医学与脑科学杂志

Obiective To investigate the effects of antidepressant therapy on whole regulating function of serotonin and tryptophan hydroxylase 2 system in ovariectomized(OVX) rats with depressive disorder.Methods seventy-two female Sprague-Dawley rats were used as subjects.The rats were randomly divided in-to 8 groups as following:Sham operation group (Sn),depression group (Dn),the OVX group (On),OVX with depression group (ODn),OVX with depression + sertraline group (ODs),OVX with depression + citalopram group(ODx),OVX with depression+ venlafaxine group(ODw),OVX with depression+ reboxetine group(0Dr).Rats in group OVX and group OVX with depression were ovariectomized.Rats in group with depression were exposed to the chronic unpredictable mild stress (CUMS).Open-field test and sugar consumption experiment were tested on all rats before the experiment and the 28th day of experiment.The expression of TPH2 mRNA was measured with RT-PCR,and the expression of TPH2 protein was detected by Western blot.The concentration of 5-HT was detected by ELISA.Results (1) After exposure of CUMS,the scores of motion and percentage of sugar consumption experiment in Dn group were decreased contrast to the Sn group (P＜0.05),and the scores in ODn group were decreased compared with the on group(P＜0.05).(2)The protein and gene expression of THP2 in On and Dn group were decreased contrast to the Sn group (P＜0.05).The protein and gene expression of THP2 in ODn were decreased compared with the on group (P＜0.05).The protein and gene expression of THP2 in ODs (protein (0.68±0.07);gene (0.87±0.09)),ODx (protein (0.71 ±0.05);gene (0.84±0.17)),ODw(protein (0.69±0.04);gene (0.88±0.16)) and ODr(protein (0.53±0.07);gene (0.70±0.15)) were increased compared with the ODn(protein (0.31±0.09);gene (0.56±O.16)) group (P＜0.05).(3)The concentration of 5-HT of hippocampus and serum in Dn and On group were decreased contrast to the Sn group (P＜0.05).The concentration of 5-HT of hippocampus and serum in ODs,ODx,ODw and ODr group was increased compared with the ODn group (P＜0.05).Conclusion The antidepressants can up-regulate the expression of THP2 and the concentration of 5-HT in the OVX rats with depressive disorder.Sertralin is stronger however Reboxetine Mesylate is the poorest.

Synergistic Effect of Herba Epimedium on Repair of Rabbit Subperiosteal Mandibular Defects with Nano-hydroxyapatite/Collagen/Polylactic Acid / 广州中医药大学学报

Objective To investigate the influence of Herba Epimedium, a kidney-strengthening Chinese herb, on the regenerate ossification of nano-hydroxyapatite/collagen/ polylactic acid (nHAC/PLA) in the repair of rabbit mandibular defect. Methods Sixteen rabbit models with 10 mm × 8 mm subperiosteal mandibular defect were established. The rabbits were randomly divided into 2 groups, namely Herba Epimedium group and control group. In both groups, the left mandibular defect region (short for left side) was not filled with any material, while the right mandibular defect region ( short for right side) was filled with nHAC/PLA. On week 2, 4, 8, 12 after modeling, rabbits in each group were killed, and then the macro-view, imageology and histology of the bilateral mandibles were observed. The data of the regenerate bone areas were calculated and analyzed with analysis of variance (ANOVA) . Results The imageological results showed bone mineral density in the right side of Herba Epimedium group and the control group, and in the left side of Herba Epimedium group were higher than those in the left side of the control group on week 2, 4, 8, 12 after modeling. The histological results showed that the regenerate ossification in the right side of Herba Epimedium group and the control group was superior to that in the left side of the corresponding groups, with more regenerative bone and vessels. In the right side of Herba Epimedium group and the control group, amount of bone-like tissues were grown into nHAC/PLA, and the maturity degree of bone tissue was increased with the prolongation of time. And the changes were more obvious in the right side of Herba Epimedium group, showing as the remaining of nHAC/PLA having been surrounded and replaced by regenerative bone tissue. Regenerative bone area was increased in both sides of Herba Epimedium group, which differed from the same side of the control group (P<0.05) . The differences of the regenerative bone area were also significant between the left side and right side of the same group (P<0.05) . Conclusion Herba Epimedium can effectively accelerate the repair of mandibular defect, and nHAC/PLA is of good biocompatibility, osteoinduction and bone conduction, and can be expected for bone defect repairing in clinic.