NEXMIF mutations in intellectual disability and epilepsy: A report of 2 cases and literature review / 中南大学学报(医学版)

More than 100 genes located on the X chromosome have been found to be associated with X-linked intellectual disability (XLID) to date, and NEXMIF is a pathogenic gene for XLID. In addition to intellectual disability, patients with NEXMIF gene mutation can also have other neurological symptoms, such as epilepsy, abnormal behavior, and hypotonia, as well as abnormalities of other systems. Two children with intellectual disability and epilepsy caused by NEXMIF gene mutation were treated in the Department of Pediatrics, Xiangya Hospital, Central South University from March 8, 2017 to June 20, 2020. Patient 1, a 7 years and 8 months old girl, visited our department because of the delayed psychomotor development. Physical examination revealed strabismus (right eye), hyperactivity, and loss of concentration. Intelligence test showed a developmental quotient of 43.6. Electroencephalogram showed abnormal discharge, and cranial imaging appeared normal. Whole exome sequencing revealed a de novo heterozygous mutation, c.2189delC (p.S730Lfs*17) in the NEXMIF gene (NM_001008537). During the follow-up period, the patient developed epileptic seizures, mainly manifested as generalized and absent seizures. She took the medicine of levetiracetam and lamotrigine, and the seizures were under control. Patient 2, a 6-months old boy, visited our department due to developmental regression and seizures. He showed poor reactions to light and sound, and was not able to raise head without aid. Hypotonia was also noticed. The electroencephalogram showed intermittent hyperarrhythmia, and spasms were monitored. He was given topiramate and adrenocorticotrophic hormone (ACTH). Whole exome sequencing detected a de novo c.592C>T (Q198X) mutation in NEXMIF gene. During the follow-up period, the seizures were reduced with vigabatrin. He had no obvious progress in the psychomotor development, and presented strabismus. There were 91 cases reported abroad, 1 case reported in China, and 2 patients were included in this study. A total of 85 variants in NEXMIF gene were found, involving 83 variants reported in PubMed and HGMD, and the 2 new variants presented in our patients. The patients with variants in NEXMIF gene all had mild to severe intellectual disability. Behavioral abnormalities, epilepsy, hypotonia, and other neurological symptoms are frequently presented. The phenotype of male partially overlaps with that of female. Male patients often have more severe intellectual disability, impaired language, and autistic features, while female patients often have refractory epilepsy. Most of the variants reported so far were loss-of-function resulted in the reduced protein expression of NEXMIF. The degree of NEXMIF loss appears to correlate with the severity of the phenotype.

Synthesis, and anti-inflammatory activities of gentiopicroside derivatives / 中国天然药物

A series of 26 novel derivatives have been synthesized through structural modification of gentiopicroside, a lead COX-2 inhibitor. And their in vivo and in vitro anti-inflammatory activities have been investigated. The in vitro anti-inflammatory activities were evaluated against NO, PGE2, and IL-6 production in the mouse macrophage cell line RAW264.7 stimulated by LPS. Results showed that most compounds had good inhibitory activity. The in vivo inhibitory activities were further tested against xylene-induced mouse ear swelling. Results demonstrated that several compounds were more active than the parent compound gentiopicroside. The inhibition rate of the most active compound P23 (57.26%) was higher than positive control drug celecoxib (46.05%) at dose 0.28 mmol·kg-1. Molecular docking suggested that these compounds might bind to COX-2 and iNOS. Some of them, e.g P7, P14, P16, P21, P23, and P24, had high docking scores in accordance with their potency of the anti-inflammatory activitiy, that downregulation of the inflammatory factors, NO, PGE2, and IL-6, was possibly associated with the suppression of iNOS and COX-2. Therefore, these gentiopicroside derivatives may represent a novel class of COX-2 and iNOS inhibitors.

Therapeutic effects of alkaloids in Tibetan medicine Bangna (Aconiti Penduli et Aconiti Flavi Radix) on osteoarthritis rats and mechanisms / 中国中药杂志

This study aims to investigate the therapeutic effects of alkaloids in Tibetan medicine Bangna(Aconiti Penduli et Aconiti Flavi Radix) on osteoarthritis(OA) rats in vitro and in vivo and the underlying mechanisms. Chondrocytes were isolated from 2-3 week-old male SD rats and lipopolysaccharide(LPS) was used to induce OA in chondrocytes in vitro. Methyl thiazolyl tetrazolium(MTT) assay was used to investigate the toxicity of seven alkaloids(12-epi-napelline, songorine, benzoylaconine, aconitine, 3-acetylaconitine, mesaconitine, and benzoylmesaconine) to chondrocytes. Chondrocytes were classified into the control group, model group(induced by LPS 5 μg·mL~(-1) for 12 h), and administration groups(induced by LPS 5 μg·mL~(-1) for 12 h and incubated for 24 h). The protein expression of inflammatory factors cyclooxygenase-2(COX-2), inducible nitric oxide synthetase(iNOS), tumor necrosis factor-α(TNF-α), and interleukin-1β(IL-1β) in each group were detected by Western blot, and the protein expression of matrix metalloprotease-13(MMP-13), aggrecan, collagen Ⅱ, fibroblast growth factor 2(FGF2) by immunofluorescence staining. For the in vivo experiment, sodium iodoacetate was used to induce OA in rats, and the expression of MMP-13, TNF-α, and FGF2 in cartilage tissues of rats in each group was detected by immunohistochemistry. The results showed that the viability of chondrocytes could reach more than 90% under the treatment of the seven alkaloids in a certain dose range. Aconitine, 12-epi-napelline, songorine, 3-acetylaconitine, and mesaconitine could decrease the protein expression of inflammatory factors COX-2, iNOS, TNF-α and IL-1β compared with the model group. Moreover, 12-epi-napelline, aconitine, and mesaconitine could down-regulate the expression of MMP-13 and up-regulate the expression of aggrecan and collagen Ⅱ. In addition, compared with the model group and other Bangna alkaloids, 12-epi-napelline significantly up-regulated the expression of FGF2. Therefore, 12-epi-napelline was selected for the animal experiment in vivo. Immunohistochemistry results showed that 12-epi-napelline could significantly reduce the expression of MMP-13 and TNF-α in cartilage tissues, and up-regulate the expression of FGF2 compared with the model group. In conclusion, among the seven Bangna alkaloids, 12-epi-napelline can promote the repair of OA in rats by down-regulating the expression of MMP-13 and TNF-α and up-regulating the expression of FGF2.

Mechanism of NLRP3 inflammasome promoting hepatic stellate cell activation / 临床肝胆病杂志

Liver fibrosis is the common result of various chronic liver injuries and can progress to liver cirrhosis and even liver cancer, and at present, there is still no effective means to reverse liver fibrosis. The transformation of activated hepatic stellate cells (HSC) in perisinusoidal space into myofibroblasts and the secretion of collagen are a central event in the process of liver fibrosis. NLRP3 inflammasome can be activated by various injury stimuli and mediate inflammatory response and pyroptosis. Recent studies have found that the activation of NLRP3 inflammasome is closely associated with HSC activation. This article introduces the activation of NLRP3 inflammasome in different pathways in HSC under various pathological factors and role of NLRP3 inflammasome in the formation of extracellular inflammatory microenvironment, thereby mediating HSC activation and playing an important role in promoting liver fibrosis.

Application of adeno-associated virus-mediated gene therapy in lysosomal storage diseases / 中国当代儿科杂志

Lysosomal storage disorders (LSDs) are a group of single-gene inherited metabolic diseases caused by defects in lysosomal enzymes or function-related proteins. Enzyme replacement therapy is the main treatment method in clinical practice, but it has a poor effect in patients with neurological symptoms. With the rapid development of multi-omics, sequencing technology, and bioengineering, gene therapy has been applied in patients with LSDs. As one of the vectors of gene therapy, adeno-associated virus (AAV) has good prospects in the treatment of genetic and metabolic diseases. More and more studies have shown that AAV-mediated gene therapy is effective in LSDs. This article reviews the application of AAV-mediated gene therapy in LSDs.

Testosterone levels in patients with varicocele and azoospermia / 北京大学学报(医学版)

OBJECTIVE@#Androgen deficiency is common in aging males and may have unfavourable health consequences. Large-scale studies suggested low testosterone level might increse mortality and morbidity in ageing males. However, young men with low testosterone level might be neglected. Recent studies reported young men with infertility may have reduced testosterone level. To investigate the incidence of androgen deficiency in males with infertility and possible factors affecting the low testosterone level.@*METHODS@#Between January 2011 and December 2012, 407 men with infertility caused by varicocele (VC), obstructive azoospermia (OA) and nonobstructive azoospermia (NOA) in our center were included. The number of men in each group of OA, NOA and VC was 141, 97 and 169, respectively. All the eligible patients underwent a serum testosterone assessment by a single morning blood draw (between 8:00 to noon) to test for concentration of the total testosterone. All serum samples were determined by radioimmunoassay in our andrology laboratory. Androgen deficiency was defined as having a total testosterone level less than 300 ng/dL.@*RESULTS@#The mean age was (30.4±5.8) years. The mean testosterone level was (4.18±1.64) ng/dL (range 0.30 to 11.32 ng/dL). The overall incidence of androgen deficiency was 26.5% (108/407). The incidences of androgen deficiency in NOA, OA and VC groups were 40.2% (39/97), 19.1% (27/141) and 24.9% (42/169), respectively, which were significantly higher in the NOA than in the VC and OA groups (P < 0.001). The incidences had no difference between the VC and OA groups (P=0.229). Univariate analysis revealed the cause of infertility, FSH and the mean testis volume as possible affecting factors for androgen deficiency. However, on multivariate analysis the only cause of infertility was an independent predictor. The incidence of androgen deficiency was the highest in the NOA group [OR 0.492 (95% confidence interval 0.288-0.840)].@*CONCLUSION@#NOA and varicocele might be risk factors of androgen deficiency. Young men with NOA may have a higher possibility of low testosterone level. Testosterone level should be followed up after NOA and varicocele treatment. Androgen deficiency should be assessed in males with infertility in clinical practice.

Perioperative factors affecting the length of hospital stay after cesarean section of pregnant women with heart disease / 中华妇产科杂志

Objective:To explore the related factors influencing the length of hospital stay(LOS) of pregnant women with heart disease (PWHD) after cesarean section.Methods:A total of 306 patients with PWHD who underwent cesarean section from January 2012 to March 2019 were collected. Among them, 203 patients had not undergone heart surgery (uncorrected group) and 103 patients who had undergone heart surgery (corrected group) during the same period. Demographic, perioperative and postoperative data were recorded. Predictors associated with postoperative LOS were determined using univariate and multivariate linear regression analysis models.Results:(1) The median LOS after cesarean section in the uncorrected group was 6 days (5-8 days). The results of univariate linear regression analysis showed that 38 parameters had significant impact on LOS ( P<0.05). The results of multivariate linear regression analysis showed that 5 parameters were independent risk factors for prolonged LOS in the uncorrected group; among them, the median LOS in uncorrected group with hypertensive disorders of pregnancy was 3 days longer than that in patients with PWHD alone [7 days (5-8 days) vs 4 days (4-5 days), β=0.195, P=0.001]; the median LOS in uncorrected group with high serum creatinine was 3 days longer than normal patients [7 days (5-13 days) vs 4 days (4-5 days), β=0.145, P=0.015]; the LOS of patients who chose general anesthesia was 2 days longer than that of patients who chose spinal anesthesia [6 days (4-8 days) vs 4 days (4-5 days), β=0.154, P=0.007]; the LOS of patients with postoperative pulmonary infection was 4 days longer than that of patients without pulmonary infection [8 days (5-15 days) vs 4 days (4-5 days), β=0.269, P<0.01]; the LOS of patients who admitted to ICU after surgery was 2 days longer than that not admitted patients [6 days (5-8 days) vs 4 days (4-5 days), β=0.268, P<0.01]. (2) The median LOS after cesarean section in corrected group was 4 days (4-5 days). The results of univariate linear regression analysis showed that 8 parameters had significant impact on the LOS (all P<0.05). The results of multivariate linear regression analysis showed that 2 parameters, which were American Society of Anesthesiologists (ASA) grade ( β=0.198, P=0.028) and intraoperative blood loss ( β=0.285, P=0.003), were the independent risk factors for prolonged LOS in corrected group. Conclusion:Preoperative with hypertensive disorders of pregnancy, preoperative creatinine increase, intraoperative general anesthesia, postoperative pulmonary infection, and postoperative admission to ICU are independent predictors of prolonged LOS in uncorrected patients with PWHD; ASA classification and intraoperative bleeding are independent predictor of prolonged postoperative LOS in patients with corrected PWHD.

Therapeutic strategies of pediatric anti-N-methyl-D-aspartate receptor encephalitis / 中国小儿急救医学

Anti-N-methyl-D-aspartate receptor(NMDAR)encephalitis is an autoimmune disorder mediated by anti-NMDAR antibody.It can be found in both adults and children.Anti-NMDAR encephalitis in children is different from adults in inducement, clinical manifestation, diagnosis process, treatment, follow-up strategy, and prognosis.Although the clinical manifestation of the disease is serious, timely and effective immunotherapy can make the vast majority of children get a good prognosis.Therefore, the review summarized and analyzed the treatment progress, in order to improve the standard diagnosis and treatment of pediatric anti-NMDAR encephalitis in China, and reduce the morbidity and mortality.

Value of magnetic resonance imaging-proton density fat fraction and FibroScan in quantitative evaluation of liver fat content in patients with chronic hepatitis B / 临床肝胆病杂志

Objective To investigate the value of magnetic resonance imaging-proton density fat fraction (MRI-PDFF) and FibroScan in the quantitative evaluation of liver fat content in patients with chronic hepatitis B (CHB). Methods A total of 96 patients with CHB who were hospitalized in Department of Hepatology, The Second Clinical Medical College of Guangzhou University of Chinese Medicine, from February 2017 to July 2020 were enrolled, and all patients were diagnosed based on liver pathological examination. MRI-PDFF and FibroScan were performed before surgery. According to the results of liver biopsy, the patients were divided into non-fatty liver disease group with 44 patients, mild fatty liver disease group with 33 patients, and moderate-to-severe fatty liver disease group with 19 patients. A one-way analysis of variance was used for comparison of normally distributed continuous data between multiple groups, and the least significant difference t -test was used for further comparison between two groups; the Kruskal-Wallis H test was used for comparison of non-normally distributed continuous data between multiple groups, and the Mann-Whitney U test was used for further comparison between two groups; Bonferroni correction was also performed. The receiver operating characteristic (ROC) curve was plotted to analyze the area under the ROC curve (AUC) of hepatic fat fraction (HFF) and controllable attenuation parameters (CAP) in the diagnosis of fatty liver disease and obtain their sensitivities, specificities, and optimal cut-off values. The intraclass correlation coefficient was used to investigate the consistency of MRI-PDFF data. Results The moderate-to-severe fatty liver disease group had a significant increase in MRI-PDFF HFF compared with the non-fatty liver disease group and the mild fatty liver disease group (all P < 0.05), and the mild fatty liver disease group had a significant increase in MRI-PDFF HFF compared with the non-fatty liver disease group( P < 0.05). The moderate-to-severe fatty liver disease group had a significant increase in FibroScan CAP compared with the non-fatty liver disease group and the mild fatty liver disease group (all P < 0.05), and the mild fatty liver disease group had a significant increase in FibroScan CAP compared with the non-fatty liver disease group ( P < 0.05). In the diagnosis of mild fatty liver disease, MRI-PDFF HFF had an AUC of 0.901 ( P < 0.001), a sensitivity of 90.9%, and a specificity of 82.7% at the optimal cut-off value of 5.1%, and in the diagnosis of moderate-to-severe fatty liver disease, MRI-PDFF HFF had an AUC of 0.972 ( P < 0.001), a sensitivity of 96.1%, and a specificity of 89.5% at the optimal cut-off value of 9.7%. In the diagnosis of mild fatty liver disease, FibroScan CAP had an AUC of 0.829 ( P < 0.001), a sensitivity of 77.3%, and a specificity of 78.8% at the optimal cut-off value of 258.5 dB/m, and in the diagnosis of moderate-to-severe fatty liver disease, FibroScan CAP had an AUC of 0.830 ( P < 0.001), a sensitivity of 76.6%, and a specificity of 78.9% at the optimal cut-off value of 285.5 dB/m. Conclusion Both MRI-PDFF and FibroScan can objectively evaluate the degree of fatty liver disease in patients with CHB. MRI-PDFF HFF and FibroScan CAP can be used as noninvasive markers for the quantitative analysis of CHB with hepatic steatosis, and MRI-PDFF HFF tends to have higher diagnostic efficiency.

Role of Autophagy in Glaucoma-induced Optic Nerve Injury and Intervention with Traditional Chinese Medicine： A Review / 中国实验方剂学杂志

Glaucoma is a common blinding eye disease characterized by progressive loss of retinal ganglion cells （RGCs） and their axons， gradual loss of visual field， and optic atrophy. The pathological changes of glaucoma are mainly the degeneration， atrophy， and loss of RGCs and their axons， which can eventually lead to the permanent impairment of visual function. The specific pathogenesis of glaucoma remains unclear. Autophagy is a process in which damaged， denatured， or senescent proteins and organelles are transported to lysosomes for digestion and degradation in order to continuously renew and rebuild cells for reuse. As revealed by clinical case analysis and animal experiments， Chinese patent medicine and some traditional Chinese medicine （TCM） therapies may be able to target the autophagy pathway. This paper expounded the role of autophagy in glaucoma-induced ocular hypertension and optic nerve injury from the aspects of stress response of ocular tissue to high intraocular pressure， trabecular meshwork dysfunction， immune regulation， and scar regulation as well as the regulatory effects of some Chinese medicinal ingredients on autophagy， aiming to explore the possibility of integrated TCM and western medicine in regulating autophagy and preventing glaucoma-induced optic nerve injury and early visual field loss. It was found that Chinese medicinal monomers or extracts function via multiple pathways and multiple targets， mainly involving two classical autophagy pathways， namely phosphatidylinositol 3-kinase （PI3K）/protein kinase B （Akt）/mammalian target of rapamycin （mTOR） and adenosine monophosphate-activated protein kinase （AMPK）. Moreover， the current studies on the neuroprotective effect of TCM mostly focus on the brain and spinal cord lesions of the central nervous system， and its protective mechanism against optic nerve injury in glaucoma still needs further investigation. In addition， autophagy was like a "double-edged sword" in different experimental animal models and methods. How to artificially intervene in autophagy to prevent the apoptosis of RGCs and protect the optic nerve injury is still an urgent problem to be solved in the future research.

Chinese Medicine Prevention and Treatment of Tumor Based on Ferroptosis： A Review / 中国实验方剂学杂志

Ferroptosis is a new type of cell death caused by abnormal accumulation of iron-dependent reactive oxygen species （ROS） and imbalance of redox with the participation of iron ions. In recent years， studies have found that ferroptosis is associated with various diseases and can especially regulate the development of tumors. Chinese medicine has unique advantages in tumor prevention and treatment. How to use ferroptosis theory to guide the prevention and treatment of cancer and other tumor diseases by Chinese medicine is a new research hotspot. This paper summarizes the proposal， action mechanism， and signaling pathway of ferroptosis， its application in tumor therapy， and the research on the activity of Chinese medicine based on ferroptosis. Results found that the occurrence of ferroptosis is related to iron metabolism， lipid ROS metabolism， and other signaling pathways and gene expressions. Ferroptosis can regulate tumor initiation and development， treatment， and tumor immunity， which provides strategies for tumor treatment and anti-tumor drug development. By analyzing the biological activity of Chinese medicine against ferroptosis， we found that Chinese medicines （Scutellariae Radix， Puerariae Lobatae Radix， Astragali Radix， Ginkgo， Epimedii Folium， Artemisiae Annuae Herba， and Salviae Miltiorrhizae Radix et Rhizoma）， Chinese herbal compounds （ Naotaifang， Si Junzitang， and Shenmai injection）， and Chinese medicine effective components （baicalein， dihydroartemisinin， puerarin， piperlongumine， luteolin， and quercetin） can exert antitumor and other biological activities by regulating ferroptosis. Therefore， Chinese medicine has great potential in preventing and controlling tumors and other diseases by regulating ferroptosis. This paper provides theoretical basis and research ideas for the in-depth study of ferroptosis theory and guides the prevention and treatment of tumor diseases by Chinese medicine.

Advance in Gait Adaptability Training for Rehabilitation of Stroke (review) / 中国康复理论与实践

Gait adaptability refers to adjustments of gait to accomplish walking and to overcome environmental difficulties. According to the training environment, gait adaptability training in stroke rehabilitation can be divided into two categories: real environment and simulated environment. The simulated environment is divided into simple indoor and multimoding environment. Some technologies, such as virtual reality and augmented reality may provide safer and more efficient methods for gait adaptability training. Gait adaptability training can improve walking function and confidence of hemiplegic patients, and help them to return to community life and social participation.

Study on Protective Effects of Scoparone on Acute Liver Injury Induced by CCl 4 in Mice / 中国药房

OBJECTIVE：To study the protec tive effects of scoparone on acute liver injury induced by CCl 4 in mice and its potential molecular mechanism. METHODS ：Fifty male Kunming mice were randomly divided into normal control group ，model group，silymarin group （positive control ，120 mg/kg），scoparone high-dose and low-dose groups （60，30 mg/kg），with 10 mice in each group. Administration groups were given relevant medicine intragastrically. Normal control group and model group were given constant volume of 0.5％ sodium carboxymethyl cellulose solution ，once a day ，for 7 days. Two hours after last medication ， except normal control group was intraperitoneally injected constant volume of olive oil ，other groups were intraperitoneally injected 0.1％ CCl4 olive oil solution （10 mL/kg）at one time to establish the acute liver injury model. The pathological changes of liver tissues in mice were observed by HE staining ；the activity of AST ，ALT，SOD and CAT and the contents of IL- 1β，IL-6，TNF-α and MDA in serum were measured by ELISA ；the phosphorylation of nuclear factor κB（NF-κB）pathway related proteins （NF-κB p65，IκBα）in liver tissue were detected by Western blotting assay. RESULTS ：Compared with normal control group ，serum activities of AST and ALT ，the contents of MDA ，IL-1β，IL-6 and TNF-α were significantly increased in model group，the activities of SOD and CAT were decreased significantly （P＜0.05）；obvious pathological changes were observed in liver tissues ； phosphorylation levels of NF-κB p65 and IκBα protein in liver tissues were significantly increased（P＜0.05）. Compared with model group ，the activities or contens of related factors in serum of mice were significantly reversed in silymarin group and scoparone high-dose and low-dose groups （P＜0.05）；the pathological changes of liver tissues were significantly reduced ；the phosphorylation levels of NF-κB p65 and IκBα protein in liver tissues were significantly reduced（P＜0.05）. CONCLUSIONS ： Scoparone has a protective effect on CCl 4-induced acute liver injury in mice ，which is related to reducing oxidative stress levels and blocking the activation of NF-κB pathway，thereby inhibiting inflammatory response.

Low-intensity extracorporeal shock wave therapy promotes recovery of sciatic nerve injury and the role of mechanical sensitive YAP/TAZ signaling pathway for nerve regeneration / 中华医学杂志(英文版)

BACKGROUND@#Histological and functional recovery after peripheral nerve injury (PNI) is of significant clinical value as delayed surgical repair and longer distances to innervate terminal organs may account for poor outcomes. Low-intensity extracorporeal shock wave therapy (LiESWT) has already been proven to be beneficial for injured tissue recovery on various pathological conditions. The objective of this study was to explore the potential effect and mechanism of LiESWT on PNI recovery.@*METHODS@#In this project, we explored LiESWT's role using an animal model of sciatic nerve injury (SNI). Shockwave was delivered to the region of the SNI site with a special probe at 3 Hz, 500 shocks each time, and 3 times a week for 3 weeks. Rat Schwann cells (SCs) and rat perineurial fibroblasts (PNFs) cells, the two main compositional cell types in peripheral nerve tissue, were cultured in vitro, and LiESWT was applied through the cultured dish to the adherent cells. Tissues and cell cultures were harvested at corresponding time points for a reverse transcription-polymerase chain reaction, Western blotting, and immunofluorescence staining. Multiple groups were compared by using one-way analysis of variance followed by the Tukey-Kramer test for post hoc comparisons.@*RESULTS@#LiESWT treatment promoted the functional recovery of lower extremities with SNI. More nerve fibers and myelin sheath were found after LiESWT treatment associated with local upregulation of mechanical sensitive yes-associated protein (YAP)/transcriptional co-activator with a PDZ-binding domain (TAZ) signaling pathway. In vitro results showed that SCs were more sensitive to LiESWT than PNFs. LiESWT promoted SCs activation with more expression of p75 (a SCs dedifferentiation marker) and Ki67 (a SCs proliferation marker). The SCs activation process was dependent on the intact YAP/TAZ signaling pathway as knockdown of TAZ by TAZ small interfering RNA significantly attenuated this process.@*CONCLUSION@#The LiESWT mechanical signal perception and YAP/TAZ upregulation in SCs might be one of the underlying mechanisms for SCs activation and injured nerve axon regeneration.

Assessment and prediction of the oversea imported risk of COVID-19 in Shanghai / 上海预防医学

Objective To determine the association between global epidemic of COVID-19 and local situation of imported cases from abroad to Shanghai, and then to predict the risk of imported COVID-19 epidemic from December 2020 through March 2021. Methods A retrospective analysis on the imported COVID-19 cases from abroad to Shanghai was conducted. The correlation between global and country-specific confirmed COVID-19 cases(weekly confirmed cases per 100 000 population)and imported cases(weekly reported)in Shanghai was determined. Compared to the risk in November 2020, country-specific risk of imported cases to Shanghai was assessed to calculate the possible number of imported case in the near future using SEIR model. Results The number of imported case of COVID-19 from abroad to Shanghai increased along with the global epidemic, with several peaks accordingly. However, the imported cases did not accumulate, as potential epidemic has been always effectively contained through timely implementation of prevention and control measures. The number of weekly imported cases in Shanghai was significantly correlated with the number of global weekly confirmed cases per 100 000 population(rSpearman = 0.349, P = 0.029), and also correlated with weekly reported cases in certain countries(P < 0.05), such as the UK and France. Using the number of imported cases from abroad to Shanghai in November as baseline, the estimated monthly number of imported cases in Shanghai might increase in the following four months. Conclusion The risk of imported COVID-19 cases from abroad to Shanghai may increase in the near future. Prediction of imported case would provide scientific evidence for optimizing prevention and control measures and reserving medical resources for the imported epidemic.

Recurrence factors for myelin oligodendrocyte glycoprotein antibody disease in children and the effect of recurrence prevention regimens / 中国当代儿科杂志

OBJECTIVE@#To study the clinical features and recurrence factors of myelin oligodendrocyte glycoprotein (MOG) antibody disease in children and the effect of recurrence prevention regimens.@*METHODS@#A retrospective analysis was performed on the medical data of 41 children with MOG antibody disease who were hospitalized in the Department of Pediatric Neurology, Xiangya Hospital of Central South University, from December 2014 to September 2020. According to the presence or absence of recurrence, they were divided into a monophasic course group (@*RESULTS@#For these 41 children, acute disseminated encephalomyelitis was the most common initial manifestation and was observed in 23 children (56%). Of the 41 children, 22 (54%) experienced recurrence, with 57 recurrence events in total, among which optic neuritis was the most common event (17/57, 30%). The proportion of children in the recurrence group who were treated with corticosteroids for less than 3 months in the acute phase was higher than that in the monophasic course group (64% @*CONCLUSIONS@#More than half of the children with MOG antibody disease may experience recurrence. Most children with recurrence are treated with corticosteroids for less than 3 months in the acute phase. Rituximab and azathioprine may reduce the risk of recurrence.

Study on modeling, simulation, and sensorless feedback control algorithm of the cavopulmonary assist device based on the subpulmonary ventricular exclusion / 生物医学工程学杂志

The subpulmonary ventricular exclusion (Fontan) could effectively improve the living quality for the children patients with a functional single ventricle in clinical. However, postoperative Fontan circulation failure can easily occur, causing obvious limitations while clinically implementing Fontan. The cavopulmonary assist devices (CPAD) is currently an effective means to solve such limitations. Therefore, in this paper the

Application evaluation of a rapid fluorescence quantitative PCR method for the detection of SARS-CoV-2 / 中华微生物学和免疫学杂志

Objective:To establish and evaluate a rapid nucleic acid detection method for SARS-CoV-2 based on COYOTE ? Flash20 real-time fluorescent quantitative PCR instrument. Methods:A rapid reaction system was constructed by using specific primer and probe sets targeting ORF1ab and N gene of SARS-CoV-2, and the sensitivity and specificity of the system were verified. At the same time, 108 clinical samples of COVID-19 were used to evaluate the application of this method.Results:The detection method did not require nucleic acid extraction, and the manual operation time was only one minute. After the sample was sent to the system, the test could be completed in 30 minutes. The detection limit of this method was 4×10 2 copies/ml. It had no cross-reactivity with other human coronaviruses (including HCoV-229E, HCoV-NL63, HCoV-OC43, HCoV-HKU1, SARS-CoV and MERS-CoV) and other respiratory viruses. The evaluation of clinical sample application showed that the total coincidence rate with the conventional RT-qPCR which required nucleic acid extraction was 98.15%. Conclusions:Through the application evaluation of the rapid fluorescent quantitative PCR method of SARS-CoV-2, it was found that the method was simple, fast, specific and sensitive, and it was suitable for real-time and rapid detection needs in varieties of situations.

Compound heterozygous mutations in POLR3A gene cause global developmental delay with epilepsy and striatal degeneration / 中华神经科杂志

Objective:To investigate the clinical, imaging and genetic features of patients with global developmental delay combined with epilepsy and striatal degeneration caused by POLR3A gene mutations.Methods:A total of three patients from two families with non-consanguineous marriages admitted to the Department of Pediatric Neurology of Xiangya Hospital of Central South University in 2020 were examined in detail. Peripheral blood DNA was extracted, and whole-exome sequencing was performed on the patients, combined with Sanger sequencing for verification. The mutation and protein function predictor softwares were applied to analyze the mutation sites.Results:All three patients presented with global developmental delay, seizures, dystonia. Head magnetic resonance imaging of all patients suggested basal ganglia atrophy and striatal degeneration. All had compound heterozygous mutations of c.1980 G>C; c.1771-6 C>G and c.2044C>T; c.1771-7 C>G in POLR3A gene as indicated by whole-exome sequencing. Sanger sequencing validation confirmed that the compound heterozygous mutations were originated from the parents of probands from the two families, respectively. Bioinformatic analysis suggested pathogenic features of the mutations.Conclusions:Compound heterozygous mutations in POLR3A gene , including a splice site mutation result in global developmental delay combined with epilepsy, striatal degeneration. Clinicians should promote the awareness of POLR3 related spectrum disorders, thus make early recognition and diagnosis.

Study on the Improvement of Quality Standard for Keqing Capsules / 中国药房

OBJECTIVE：To optimi ze and improve the quality standard for Keqing capsules. METHODS ：According to general rule 0502 method stated in 2015 edition of Chinese Pharmacopeia （part Ⅳ），TLC method was used to identify Reineckia carnea and Morus alba in Keqing capsules [the developing solvents were dichloromethane-ethyl acetate-formic acid （10 ∶ 4 ∶ 0.2，V/V/V） and ethyl acetate-carbinol-ammonia （12 ∶ 2 ∶ 1，V/V/V），respectively]. The contents of morphine and codeine phosphate in Keqing capsules were determined by HPLC. The determination was performed on XBridge C 18 column with mobile phase consisted of acetonitrile-0.01 mol/L potassium dihydrogen phosphate aqueous solution （pH value adjusted to 2.7 with 5％ phosphoric acid solution）（5 ∶ 95，V/V）at the flow rate of 1.0 mL/min. The detection wavelength was set at 210 nm，and the column temperature was 35 ℃. The sample size was 10 µL. RESULTS ：In TLC of R. carnea and M. alba in samples ，same color spots were shown in the correspon ding positions of reference substance chromatogram without interference from negative control. The linear range of morphine and codeine phosphate were batches of Keqing capsules were 0.97-1.37，0.16-0.37 mg/g，respectively. CONCLUSIONS ：TLC identification method for R. carnea and M. alba ，as well as HPLC content determination method for morphine and codeine phosphate in Keqing capsules are established；the method is simple ，accurate and reliable with strong specificity ，which improves the quality standard of Keqing capsules.