Objective:To analyze the clinical phenotype and genetic characteristics for a child with Canavan disease.Methods:A child who was admitted to the Children's Hospital Affiliated to Shandong University on April 9, 2021 for inability to uphold his head for 2 months and increased muscle tone for one week was subjected to whole exome sequencing, and candidate variants were verified by Sanger sequencing.Results:Genetic testing revealed that the child has harbored compound heterozygous variants of the ASPA gene, including a paternally derived c. 556_559dupGTTC (p. L187Rfs*5) and a maternally derived c.919delA (p. S307Vfs*24). Based on the guidelines from the American College of Medical Genetics and Genomics, both variants were predicted to be pathogenic (PVS1+ PM2_Supporting+ PM3). Conclusion:The c. 556_559dupGTTC (p.L187Rfs*5) and c. 919delA (p.S307Vfs*24) compound heterozygous variants of the ASPA gene probably underlay the pathogenesis of Canavan disease in this child.

Objective:To define the definition and connotation of nursing shame by using Walker-Avant classical conceptual analysis.Methods:Literature was systematically searched from CNKI, Wanfang, VIP, PubMed, Web of Science, Wiley Online Library, ScienceDirect and CINAHL, and articles were screened according to inclusion and exclusion criteria. Based on Walker-Avant classical conceptual analysis, the concept of nursing shame was analyzed from the aspects of defining attribute, antecedent factors and post factors.Results:The three defining attributes of nursing shame included negative self-evaluation, avoidance and withdrawal and self-breakthrough. Antecedent factors included non-compliance with self-expectations and clinical bullying. Post-effects included physical and mental impairment and departure of nurses, increased patient burden and hindered expression. However, nursing shame could also be positive by cultivating shame resilience and become a psychological motivation for nurses to reflect and adjust themselves.Conclusions:The conceptual attribute of nursing shame is clarified through conceptual analysis, which lays a theoretical foundation for the future development or localization of targeted measurement tools to effectively identify and deal with nursing shame.

ObjectiveTo investigate the effect of rutin on the browning of 3T3-L1 preadipocytes and the mechanism. MethodCell counting kit-8 （CCK-8） assay was used to detect the effect of different concentration of rutin （3.125， 6.25， 12.5， 25， 50， 100， 200 μmol·L^-1） on 3T3-L1 cell activity， and Western blot to examine the effect of rutin （12.5， 25， 50 μmol·L^-1） on the expression of thermogenesis-associated proteins uncoupling protein 1 （UCP1）， PR domain containing 16 （PRDM16） and peroxisome proliferator-activated receptor γ coactivator-1α （PGC-1α） in adipocytes. After the optimal concentration of rutin was determined， the effect of rutin on lipid droplet formation in adipocytes was observed based on oil red O staining， and the expression of nuclear respiratory factor 1 （NRF1）， nuclear respiratory factor 2 （NRF2） and mitochondrial transcription factor A （TFAM）， which were the landmark proteins of mitochondrial biosynthesis， was detected by Western blot. ResultCompared with the blank group， 200 μmol·L^-1 rutin inhibited 3T3-L1 cell activity （P<0.01）. Compared with the blank group， at the concentration of 12.5， 25， 50 μmol·L^-1 rutin significantly promoted the expression of thermogenesis-associated proteins （UCP1， PRDM16， and PGC-1α） （P<0.01）， which was determined as the optimal concentration. Compared with the blank group， 50 μmol·L^-1 rutin significantly increased the immunofluorescence intensity of mitochondrial UCP1 protein in 3T3-L1 cells （P<0.01） and the expression of the markers of mitochondrial biosynthesis （NRF1， NRF2， and TFAM） （P<0.01）. In addition， 50 μmol·L^-1 rutin significantly inhibited lipid droplet formation of 3T3-L1 adipocytes （P<0.01）. ConclusionRutin inhibited lipid droplet deposition in 3T3-L1 adipocytes and increased the expression of thermogenesis-related proteins （UCP1， PRDM16， and PGC-1α） and markers of mitochondrial biosynthesis （NRF1， NRF2， and TFAM）， thereby inducing the browning of 3T3-L1 adipocytes. This lays a basis for the development of drugs that safely regulate the browning of white cells.

Objective To investigate the therapeutic effect of traditional Chinese medicine (TCM) on portal vein thrombosis (PVT) in patients with liver cirrhosis and its medication characteristics. Methods A retrospective analysis was performed for 89 patients with liver cirrhosis and PVT who were hospitalized and treated in Shuguang Hospital Affiliated to Shanghai University of Traditional Chinese Medicine, and according to whether TCM treatment was applied in combination, they were divided into TCM group with 59 patients and control group with 30 patients. Related data were collected for the two groups, including demographic data, laboratory examination, radiological examination, gastroscopy, history of surgery, portal hypertension-related complications, medication, and follow-up data. The independent samples t -test was used for comparison of normally distributed continuous data between two groups, and the Mann-Whitney U rank sum test was used for comparison of non-normally distributed continuous data between two groups; the chi-square test or the Fisher's exact test was used for comparison of categorical data between two groups. An ordinal polytomous Logistic regression analysis was used for multivariate analysis. TCM Inheritance Computing Platform (V3.0) was used to perform a drug effect cluster analysis of TCM prescriptions. Results The multivariate logistic regression analysis showed that esophageal and gastric varices (odds ratio [ OR ]=3.144, 95% confidence interval [ CI ]: 1.221-8.094), PVT involving the portal vein (PV) and the superior mesenteric vein (SMV) ( OR =51.667, 95% CI : 3.536-754.859), PVT involving PV+spleen vein (SV)+SMV ( OR =13.271, 95% CI : 2.290-76.928), cavernous transformation of the portal vein ( OR =11.896, 95% CI : 1.172-120.696), and TCM intervention ( OR =0.348, 95% CI : 0.129-0.938) were influencing factors for the outcome of PVT in liver cirrhosis. Follow-up results showed that compared with the control group, the TCM group had a significantly lower progression rate (16.95% vs 56.67%, P < 0.001) and a significantly lower incidence rate of variceal rupture and bleeding (8.47% vs 33.33%, P < 0.001). Effective TCM drugs with a relatively high frequency of use included deficiency-tonifying drugs (359 times, 34.6%), blood-activating and stasis-resolving drugs (202 times, 19.5%), and diuresis-inducing and dampness-draining drugs (180 times, 17.3%); the TCM drugs with a relatively high frequency of use included Astragalus membranaceus (57 times, 8.7%), Angelica sinensis (50 times, 7.6%), and leech (48 times, 7.3%); TCM drug combinations with a relatively high frequency of use included Astragalus membranaceus+Angelica sinensis, Astragalus membranaceus+leech, Angelica sinensis+leech, and Astragalus membranaceus+Angelica sinensis+leech. Conclusion Qi-tonifying, blood-activating, and stasis-breaking drugs, such as Astragalus membranaceus, Angelica sinensis, and leech, can promote the stabilization or recanalization of PVT in liver cirrhosis and reduce the incidence rate of bleeding events due to portal hypertension.

Objective:To explore the curative effect of wide pedicled with double-vessel flap of posterior lateral calf in repair of soft tissue defect in hind foot.Methods:From January 2018 to June 2021, 12 patients with soft tissue defects on hind foot were reconstructed with double-vessel flaps pedicled perforator of peroneal artery and sural nerve nutrient vessels in the Department of Trauma Orthopaedics, No.940 Hospital of Chinese People's Liberation Army Joint Service Support Force. The patients were 8 males and 4 females, aged 9-45(27.17±12.14) years old. Time after injury to admission was 6-24(10.17±4.80) hours. Six patients were with simple soft tissue defects, 2 with tendon defects, 3 with bone defects and 1 with postoperative infection due to an open fracture. The sizes of soft tissue defect ranged from 4 cm×5 cm-8 cm×12 cm. Soft tissue defects were reconstructed by transfer of posterolateral calf flaps, and the bone defects were repaired by phase I or phase II bone grafts or antibiotic cement and membrane induction according to the wound surface. For larger bone defects, stage-II bone transport was carried out to restore the length of the hind foot. Defects of Achilles tendon were reconstructed by direct suture or tendon transposition. Foot functions were evaluated by American Orthopaedic Foot and Ankle Surgery(AOFAS) ankle-posterior sufficient scale, visual analogue scale(VSA) score and flap healing. All patients were included in postoperative follow-up regularly through outpatient clinic or via WeChat.Results:All 12 patients had postoperative follow-up that lasted for 6-24(12.92±6.22) months. One flap developed dark purple colour with swelling at the distal end of the flap 3 days after surgery. It eventually healed after removed some sutures from the pedicle together with blood-letting on the flap surface. Three flaps developed local infection, and they were cured after debridement, dressing change and the use of sensitive antibiotics. The remaining 8 patients had achieved good appearance of flaps and normal ankle function. According to AOFAS, scores of ankle-posterior sufficiency scale increased from 14-45(25.25±5.42) before surgery up to 65-96(75.92±7.73) at the final follow-up. Of the 12 patients, 8 were in excellent, 2 in good and 2 in fair. The VAS scores decreased from 5-8(6.55±1.13) before surgery down to 0-4(1.55±1.37) at the final follow-up. The difference had statistics significance( P<0.01). All patients had satisfactory recovery of ankle function, with the extension at 15-20 degrees and plantar flexion of 30-40 degrees. The donor site healed well and all skin grafts survived. Conclusion:The double-vessel flap pedicled with perforating branch of peroneal artery and nutrient vessels of sural nerve can be used for reconstruction of soft tissue defect of hind foot. It achieved good surgical effects with reliable blood supply, smooth venous return, strong anti-infection ability, satisfactory appearance at donor site and flap itself, as well as a good recovery of foot function.

Objective:To study the regulatory effects of transforming growth factor beta-activated kinase 1 (TAK1) on microglia pyroptosis in hypoxic-ischemic brain damage (HIBD).Methods:Primary microglia cells were isolated from fetal mice and randomly assigned into 4 groups: the control group, 5z-7-oxozeaneol (5z-7) group, oxygen-glucose deprivation (OGD) group and OGD+5z-7 group. OGD models of microglia cells were established for the OGD groups and 5z-7 groups received a small molecule TAK1 inhibitor 5z-7. Expression of phosphorylated TAK1(P-TAK1), pyroptosis related proteins including NOD-like receptor pyrin domain containing 3 (NLRP-3), apoptosis-associated speck-like protein containing a CARD (ASC) oligomers, N terminal of Gasdermin D (GSDMD-N) and interleukin 1β (IL-1β) were examined using Western blot at 0 h, 6 h and 24 h after intervention. Lactate dehydrogenase (LDH) test and transmission electron microscope were used for pyroptosis evaluation.Results:(1) Compared with the control group, expressions of all proteins including P-TAK1, NLRP-3, ASC oligomers, GSDMD-N, IL-1β and LDH level showed no significant differences in the OGD group at 0 h ( P>0.05). P-TAK1 levels in OGD group at 6 h and 24 h were lower than the control group and the levels of NLRP-3, ASC oligomers, GSDMD-N, IL-1β and LDH were significantly higher ( P<0.05). Microglia pyroptosis (characterized by disruption of cell membrane, extravasation of cytoplasm and chromatin margin aggregation) was observed under electron microscope. (2) 5z-7 group and OGD+5z-7 group had lower P-TAK1 levels and higher NLRP-3, ASC oligomers, GSDMD-N, IL-1β and LDH levels than the control group and OGD group at 6 h and 24 h. Conclusions:The down-regulation of TAK1 phosphorylation level may promote microglia pyroptosis in HIBD. This regulatory effects is related to the up-regulation of NLRP-3 expression and the oligomerization of ASC.

ObjectiveTo investigate the medicinal effect of total flavonoids of mulberry leaves on regulating liver lipid metabolism disorder in diabetes mellitus type 2 （T2DM） rats， and the mechanism based on liver peroxidase proliferators activate receptors-α （PPAR-α） and carnitine palmityl transferase-1 （CPT-1） proteins. MethodTotal flavonoids of mulberry leaves were extracted and purified by ethanol extraction + macroporous resin purification and then identified. T2DM rat model was induced by high fat diet （HFD） + streptozocin（STZ）method. Rats with blood glucose ≥ 11.1 mmol·L^-1 were divided into three administration groups with the high dose （300 mg·kg^-1）， medium dose （150 mg·kg^-1）， and low dose （75 mg·kg^-1） of total flavonoids of mulberry leaves for 8 weeks， respectively， to observe the weight and blood glucose of the rats. The pathological changes of rat livers were observed by hematoxylin-eosin （HE） staining. Biochemical method was used to detect the levels of total cholesterol （TC）， triglyceride （TG）， low density lipoprotein-cholesterol （LDL-C）， and high density lipoprotein-cholesterol （HDL-C） of blood lipid metabolism in rats. The messenger ribonucleic acid （mRNA） and protein expressions of PPAR-α and CPT-1 were determined by real-time quantitative polymerase chain reaction （Real-time PCR） and Western blot. ResultAfter 8 weeks of intervention of total flavonoids of mulberry leaves， compared with the control group， the food intake， liver index， and fasting blood glucose of rats in the model group increased significantly （P<0.01）. Compared with the model group， the food intake， fasting blood glucose， and liver index of rats in the administration groups decreased significantly （P<0.01）. The results of HE staining showed that the liver tissue structure of rats in the control group was complete and there was no obvious abnormality. The model group showed vacuolar degeneration and inflammatory infiltration of hepatocytes of rats. There was no obvious abnormality in the liver structure of rats in the administration groups. The results of blood lipid showed that compared with the control group， the levels of TC， TG， and LDL-C increased significantly （P<0.01）， but the level of HDL-C decreased significantly （P<0.01） in the model group. Compared with the model group， the levels of TC， TG， and LDL-C decreased significantly （P<0.05， P<0.01）， whereas the level of HDL-C increased significantly （P<0.01） in the administration groups. The results of Real-time PCR showed that compared with the control group， the mRNA expression of PPAR-α and CPT-1 of rats in the model group decreased significantly （P<0.01）. Compared with the model group， the mRNA expressions of PPAR-α and CPT-1 of rats in the high-dose group increased significantly （P<0.01）. The results of Western blot showed that compared with the control group， the protein expressions of PPAR-α and CPT-1 of rats in the model group decreased significantly （P<0.01）. Compared with the model group， the protein expressions of PPAR-α and CPT-1 of rats in the high-dose group increased significantly （P<0.05， P<0.01）. ConclusionTotal flavonoids of mulberry leaves can effectively reduce blood glucose and improve liver lipid metabolism disorder in T2DM rats. The total flavonoids of mulberry leaves could regulate lipid metabolism and play a hypoglycemic role by activating and regulating PPAR-α and CPT-1 proteins and promoting oxidative decomposition of fatty acids.

Effects of heat treatment conditions (including temperature and time) on the shape memory recovery and corrosion resistance of NiTi self-expanding vascular stents were studied based on working mechanism and clinical use. The
Alloys ; Corrosion ; Hot Temperature ; Materials Testing ; Stents ; Surface Properties ; Temperature ; Titanium

Objective: To analyze the ratio of pulmonary valve ring to aortic valve ring (GA ratio), and to explore the application value of GA ratio in predicting the need of transannular patch in the radical operation of children with tetralogy of Fallot (TOF). Methods: A retrospective analysis was performed in 355 children (182 males and 173 females) with TOF and underwent radical operation in the Pediatric Cardiac Center of Beijing Anzhen Hospital Affiliated to Capital Medical University from January 2016 to December 2017.They were divided into transannular patch group and non-transannular patch group.The values of pulmonary valve ring and aortic valve ring in two groups were collected, and the Z-score of pulmonary artery and GA ratio were calculated respectively for statistical analysis. Results: Among the 355 patients, 156 children (43.9%) required a transannular patch, and 199 patients (56.1%) did not receive transannular patch.The GA ratio and the Z-score of of pulmonary artery in the transannular patch group were lower than those in the non-transannular patch group [0.45±0.12 vs. 0.54±0.15, (-1.75±0.98) scores vs.(-0.86±1.39) scores], and the differences were statistically significant (t=5.29, 6.32, all P<0.01). Receiver operating characteristic curve analysis showed that in the case of the Z-score of pulmonary artery of -2 for the children received transannular patch, the area under the curve (AUC) was 0.702 (95%CI: 0.64-0.76), sensitivity was 69%, and specificity was 83%; in the case of the GA ratio of 0.58 for the children received transannular patch, the AUC was 0.712 (95%CI: 0.66-0.77), sensitivity was 70%, and specificity was 87%. Conclusions The GA ratio is a simple and effective predictor of transannular patch in the radical operation of TOF and can be applied in clinical practice.

Objective To explore the genetic etiology of a girl featuring epilepsy,speech delay and mild mental retardation.Methods Peripheral blood samples of the child and her parents were collected.Genomic DNA was extracted and subjected to next generation sequencing.Suspected variant was confirmed by Sanger sequencing.Results The child was found to carry a de novo heterozygous c.3592G＞ A (p.V1198M) variant of the SMARCA2 gene,which was predicted to be pathogenic by bioinformatic analysis.Conclusion The child was diagnosed with Nicolaides-Baraitser syndrome due to heterozygous variant of the SMARCA2 gene.