Artificial Intelligence and Deep Learning in Sensors and Applications.

To effectively solve the increasingly complex problems experienced by human beings, the latest development trend is to apply a large number of different types of sensors to collect data in order to establish effective solutions based on deep learning and artificial intelligence [...].

General Construction of Asymmetric Amine Ethers via Efficient Transesterification.

A novel method to prepare asymmetric amine ethers is reported. Tertiary amine alcohol hydrogen sulfate intermediates are prepared through a reactive distillation process, followed by the transesterification process to afford eventually asymmetric amine ethers. Experiments and DFT calculations revealed the essential roles the sulfate group plays in the highly selective monoesterification process. This clean method is tolerant towards various functional groups with good yields under mild condition, which is obviously superior compared to the conventional processes.

Chronic Injury of Mice Bone Marrow Multipotent Hematopoietic Progenitor Cells Induced by Ionizing Radiation / 中国实验血液学杂志

OBJECTIVE@#To explore the chronic injury and its possible mechanism of ionizing radiation on multipotent hematopoietic progenitor cells (MPPs) by determining the related indicators of MPPs in bone marrow of mice post-radiation.@*METHODS@#Sixteen C57BL/6 adult mice were randomly divided into normal control and irradiation groups, 8 mice in each group. The mice in irradiation group were exposed to 6 Gy X-ray. The proportion of bone marrow MPPs, their apoptosis and proliferation 2 months after irradiation were detected by flow cytometry. Mitochondrial activity and levels of reactive oxygen species (ROS) in each MPPs population were detected by Mitotracker Red and DCFDA probes, and the senescent state of MPPs in the bone marrow was analyzed.@*RESULTS@#Ionizing radiation could reduce the proportion of MPPs in mouse bone marrow. The proportions and numbers of MPP1, MPP3 and MPP4 in the bone marrow were significantly decreased after whole-body irradiation with 6 Gy X-ray (P<0.05). In addition, radiation significantly reduced the colony-forming capacity of MPPs in bone marrow (P<0.05), the proportions of apoptotic cells in the MPP1 and MPP4 cell populations increased significantly in the bone marrow (P<0.05). The activity of mitochondria was significantly reduced in the bone marrow MPP2, MPP3 and MPP4 cell populations compared with that of the control group (P<0.05). It was also found that the radiation could significantly increase the ROS levels of MPPs in bone marrow, and the content of ROS in the MPP2, MPP3 and MPP4 cell population of the bone marrow was significantly increased(P<0.05). The senescent cells ratios of MPP1, MPP3 and MPP4 cells in the bone marrow after irradiation were significantly higher than those in the control group (P<0.05).@*CONCLUSION@#Ionizing radiation can cause chronic MPPs damage in mice, which is closely associated with persistent oxidative stress, cells apoptosis, and cellular senescence.

Baicalin Antagonizes Prostate Cancer Stemness via Inhibiting Notch1/NF-κB Signaling Pathway / 中国结合医学杂志

OBJECTIVE@#To investigate the molecular mechanisms underlying the effect of baicalin on prostate cancer (PCa) progression both in vivo and in vitro.@*METHODS@#The in situ PCa stem cells (PCSCs)-injected xenograft tumor models were established in BALB/c nude mice. Tumor volume and weight were respectively checked after baicalin (100 mg/kg) treatment. Hematoxylin-eosin (HE) staining was used to observe the growth arrest and cell necrosis. mRNA expression levels of acetaldehyde dehydrogenase 1 (ALDH1), CD44, CD133 and Notch1 were determined by reverse transcription-polymerase chain reaction. Protein expression levels of ALDH1, CD44, CD133, Notch1, nuclear factor κB (NF-κB) P65 and NF-κB p-P65 were detected by Western blot. Expression and subcellular location of ALDH1, CD44, CD133, Notch1 and NF-κB p65 were detected by immunofluorescence analysis. In vitro, cell cycle distribution and cell apoptosis of PC3 PCSCs was assessed by flow cytometry after baicalin (125 µmol/L) treatment. The migration and invasion abilities of PCSCs were assessed using Transwell assays. Transmission electron microscopy scanning was utilized to observe the structure and autophagosome formation of baicalin-treated PCSCs. In addition, PCSCs were infected with lentiviruses expressing human Notch1.@*RESULTS@#Compared with the control group, the tumor volume and weight were notably reduced in mice treated with 100 mg/kg baicalin (P<0.05 or P<0.01). Histopathological analysis showed that baicalin treatment significantly inhibited cell proliferation and promoted cell apoptosis. Furthermore, baicalin treatment reduced mRNA and protein expression levels of CD44, CD133, ALDH1, and Notch1 as well as the protein expression of NF-κB p-P65 in the xenograft tumor (P<0.01). In vitro, the cell proliferation of PCSCs was significantly attenuated after treatment with 125 µmol/L baicalin for 72 h (P<0.01). The cell migration and invasion rates were decreased following treatment with baicalin for 48 and 72 h (P<0.01). Baicalin notably induced cell apoptosis and seriously damaged the structure of PCSCs. The mRNA and protein expressions of CD133, CD44, ALDH1 and Notch1 in PCSCs were significantly downregulated following baicalin treatment (P<0.01). Importantly, the inhibitory effects of baicalin on PCa progression and stemness were reversed by Notch1 overexpression (P<0.05 or P<0.01).@*CONCLUSION@#Mechanistically, baicalin exhibited a potential therapeutic effect on PCa via inhibiting the Notch1/NF-κB signaling pathway and its mediated cancer stemness.

3D printed orthopedic insoles for flatfoot: a systematic review / 中国康复理论与实践

ObjectiveTo review the classification of orthopedic insoles, common techniques of 3D printing orthopedic insoles, common materials and their application for flatfoot. MethodsLiteratures were retrieved from PubMed, Web of Science, CNKI and Wanfang Data from 2012 to 2022, and the relevant contents were summarized. ResultsA total of ten studies were finally included, from 5 countries, involving 290 participants, which published from 2019 to 2022. Orthotic insoles were classified as prefabricated, semi-custom, and custom, while custom ones were classified as traditional custom and 3D printed custom. 3D printed orthotic insoles were often made with selective laser sintering, fused deposition modeling (FDM) and PolyJet printing technologies, and commonly used materials included ethylene-vinyl acetate (EVA), polylactic acid, thermoplastic polyurethane, polyamide, and polypropylene. For flatfoot, 3D printed orthotic insoles could improve plantar pressure, relieve foot pain and the combined use of insole posting could control rearfoot valgus. Conclusion3D printed custom insoles can be made more efficiently and accurately than traditional custom insoles. The printing technologies and materials often chosen for 3D printed orthotic insoles are mainly FDM and EVA. 3D printed orthotic insoles is effective on plantar pressure, comfort and foot movement function of flatfoot.

Affective Recommender System for Pet Social Network.

In this new era, it is no longer impossible to create a smart home environment around the household. Moreover, users are not limited to humans but also include pets such as dogs. Dogs need long-term close companionship with their owners; however, owners may occasionally need to be away from home for extended periods of time and can only monitor their dogs' behaviors through home security cameras. Some dogs are sensitive and may develop separation anxiety, which can lead to disruptive behavior. Therefore, a novel smart home solution with an affective recommendation module is proposed by developing: (1) an application to predict the behavior of dogs and, (2) a communication platform using smartphones to connect with dog friends from different households. To predict the dogs' behaviors, the dog emotion recognition and dog barking recognition methods are performed. The ResNet model and the sequential model are implemented to recognize dog emotions and dog barks. The weighted average is proposed to combine the prediction value of dog emotion and dog bark to improve the prediction output. Subsequently, the prediction output is forwarded to a recommendation module to respond to the dogs' conditions. On the other hand, the Real-Time Messaging Protocol (RTMP) server is implemented as a platform to contact a dog's friends on a list to interact with each other. Various tests were carried out and the proposed weighted average led to an improvement in the prediction accuracy. Additionally, the proposed communication platform using basic smartphones has successfully established the connection between dog friends.

Underlying Mechanisms of Reductive Amination on Pd-Catalysts: The Unique Role of Hydroxyl Group in Generating Sterically Hindered Amine.

Pd nanospecies supported on porous g-C3N4 nanosheets were prepared for efficient reductive amination reactions. The structures of the catalysts were characterized via FTIR, XRD, XPS, SEM, TEM, and TG analysis, and the mechanisms were investigated using in situ ATR−FTIR spectroscopic analysis complemented by theoretical calculation. It transpired that the valence state of the Pd is not the dominating factor; rather, the hydroxyl group of the Pd(OH)2 cluster is crucial. Thus, by passing protons between different molecules, the hydroxyl group facilitates both the generation of the imine intermediate and the reduction of the C=N unit. As a result, the sterically hindered amines can be obtained at high selectivity (>90%) at room temperature.

EGF signaling promotes the lineage conversion of astrocytes into oligodendrocytes.

BACKGROUND: The conversion of astrocytes activated by nerve injuries to oligodendrocytes is not only beneficial to axonal remyelination, but also helpful for reversal of glial scar. Recent studies have shown that pathological niche promoted the Sox10-mediated astrocytic transdifferentiation to oligodendrocytes. The extracellular factors underlying the cell fate switching are not known. METHODS: Astrocytes were obtained from mouse spinal cord dissociation culture and purified by differential adherent properties. The lineage conversion of astrocytes into oligodendrocyte lineage cells was carried out by Sox10-expressing virus infection both in vitro and in vivo, meanwhile, epidermal growth factor (EGF) and epidermal growth factor receptor (EGFR) inhibitor Gefitinib were adopted to investigate the function of EGF signaling in this fate transition process. Pharmacological inhibition analyses were performed to examine the pathway connecting the EGF with the expression of oligodendrogenic genes and cell fate transdifferentiation. RESULTS: EGF treatment facilitated the Sox10-induced transformation of astrocytes to O4+ induced oligodendrocyte precursor cells (iOPCs) in vitro. The transdifferentiation of astrocytes to iOPCs went through two distinct but interconnected processes: (1) dedifferentiation of astrocytes to astrocyte precursor cells (APCs); (2) transformation of APCs to iOPCs, EGF signaling was involved in both processes. And EGF triggered astrocytes to express oligodendrogenic genes Olig1 and Olig2 by activating extracellular signal-regulated kinase 1 and 2 (Erk1/2) pathway. In addition, we discovered that EGF can enhance astrocyte transdifferentiation in injured spinal cord tissues. CONCLUSIONS: These findings provide strong evidence that EGF facilitates the transdifferentiation of astrocytes to oligodendrocytes, and suggest that targeting the EGF-EGFR-Erk1/2 signaling axis may represent a novel therapeutic strategy for myelin repair in injured central nervous system (CNS) tissues.

[Bladder wall neourethra technique improves early urinary continence after laparoscopic radical prostatectomy].

OBJECTIVE: To study the effect of the bladder wall neourethra (BWN) technique on early urinary continence after laparoscopic radical prostatectomy (LRP). METHODS: We prospectively selected 40 cases of LRP performed in our hospital from August 2020 to August 2021 and randomly divided them into a BWN group (n = 20) and a control group (n = 20). We recorded the urinary continence rate of the two groups of patients at 7, 30, 90 and 180 days, and measured the maximum urethral pressure (MUP), functional urethral length (FUL) and functional urethral area (UFA) and observed the shape of the neourethra closure by MRI at 1 month after catheter removal. RESULTS: The urinary continence rates were significantly higher in the BWN than in the control group at 7 days (90.0% vs 25.0%, P < 0.001), 30 days (95.0% vs 35.0%, P < 0.001), 90 days (100% vs 60.0%, P < 0.05) and 180 days (100% vs 90.0%, P > 0.05) after catheter removal. No statistically significant difference was observed in MUP between the two groups (P > 0.05). FUL and FUA were remarkably higher in the BWN than in the control group (P < 0.01). MRI showed tight closure of the neourethra in the BWN group in the urine storage period. CONCLUSION: The BWN technique can significantly prolong FUL and improve early urinary continence after LRP.

Construction of evaluation index system of core competence of imaging specialized nurses and analysis of reliability and validity test / 中华医学教育探索杂志

Objective:To explore the construction of evaluation index system of core competence of imaging specialized nurses and analysis of reliability and validity test.Methods:Firstly, a research group was established to consult the relevant literature. After repeated discussion among the members of the research group, imaging specialized nurses were invited to discuss, modify and improve the framework of the evaluation index system, and an expert consultation questionnaire for the evaluation index system of the core competence of imaging specialized nurses was formulated. Through two rounds of expert consultation, the core competence evaluation index system of imaging specialized nurses was constructed, and a questionnaire was compiled based on the constructed index system. Questionnaire survey method was used to verify the rationality and scientificity of the core competence evaluation index system of imaging specialized nurses constructed in this study.Results:The evaluation index system of core competence of imaging specialized nurses included 3 first-level indexes, 20 second-level indexes and 48 third-level indexes. The overall Cronbach's α coefficient of the evaluation index system was 0.972. The Cronbach's α coefficients of the theoretical knowledge of imaging specialized nursing, nursing practice skills of imaging specialized nurses and related abilities were 0.915, 0.934 and 0.924 respectively. The overall content validity index (S-CVI) of the index system was 0.977, and the CVI of each item (I-CVI) was 0.812-1.000. The overall correlation coefficient of the first-level indexes and index system was 0.800-0.936 ( P < 0.05), the correlation coefficient of the secondary indexes and the corresponding primary indexes was 0.562-0.972 ( P<0.05), and the correlation coefficient of the third-level indexes and the corresponding first-level index was 0.362-0.914 ( P<0.05). Conclusion:The constructed questionnaire for evaluation index of core competence of imaging specializied nurses has good reliability and consistent internal structure, and has good feasibility, reliability, rationality and scientificity, which provides a theoretical basis and practical guide for the cultivation, assessment and evaluation of core competence of imaging specialized nurses.

Decreased left amygdala functional connectivity by cognitive-coping therapy in obsessive-compulsive disorder.

It is of great clinical importance to explore more efficacious treatments for OCD. Recently, cognitive-coping therapy (CCT), mainly focusing on recognizing and coping with a fear of negative events, has been reported as an efficacious psychotherapy. However, the underlying neurophysiological mechanism remains unknown. This study of 79 OCD patients collected Yale-Brown Obsessive Compulsive Scale (Y-BOCS) and resting-state functional magnetic resonance imaging (rs-fMRI) scans before and after four weeks of CCT, pharmacotherapy plus CCT (pCCT), or pharmacotherapy. Amygdala seed-based functional connectivity (FC) analysis was performed. Compared post- to pretreatment, pCCT-treated patients showed decreased left amygdala (LA) FC with the right anterior cingulate gyrus (cluster 1) and with the left paracentral lobule/the parietal lobe (cluster 2), while CCT-treated patients showed decreased LA-FC with the left middle occipital gyrus/the left superior parietal/left inferior parietal (cluster 3). The z-values of LA-FC with the three clusters were significantly lower after pCCT or CCT than pretreatment in comparisons of covert vs. overt and of non-remission vs. remission patients, except the z-value of cluster 2 in covert OCD. CCT and pCCT significantly reduced the Y-BOCS score. The reduction in the Y-BOCS score was positively correlated with the z-value of cluster 1. Our findings demonstrate that both pCCT and CCT with large effect sizes lowered LA-FC, indicating that FCs were involved in OCD. Additionally, decreased LA-FC with the anterior cingulate cortex (ACC) or paracentral/parietal cortex may be a marker for pCCT response or a marker for distinguishing OCD subtypes. Decreased LA-FC with the parietal region may be a common pathway of pCCT and CCT. Trial registration: ChiCTR-IPC-15005969.

Correction to "On the Origin of the Promoting Effect Exerted by Magnesium in the ZnCl2-Catalyzed Synthesis of N,N-Diisopropylethylamine".

[This corrects the article DOI: 10.1021/acsomega.0c04188.].

Effects of short-term cognitive-coping therapy on resting-state brain function in obsessive-compulsive disorder.

BACKGROUND: Obsessive-compulsive disorder (OCD) tends to be treatment refractory. Recently, cognitive-coping therapy (CCT) for OCD is reported to be an efficacious psychotherapy. However, the underlying neurophysiological mechanism remains unknown. Here, the effects of CCT on OCD and the resting-state brain function were investigated. METHODS: Fifty-nine OCD patients underwent CCT, pharmacotherapy plus CCT (pCCT), or pharmacotherapy. Before and after a 4-week treatment, Yale-Brown obsessive-compulsive scale (Y-BOCS) was evaluated and resting-state functional magnetic resonance imaging (rs-fMRI) was scanned. RESULTS: Compared with the baseline, significant reduction of Y-BOCS scores was found after four-week treatment (p < .001) in groups of CCT and pCCT, not in pharmacotherapy. Post-treatment Y-BOCS scores of CCT group and pCCT group were not different, but significantly lower than that of pharmacotherapy group (p < .001). Compared with pretreatment, two clusters of brain regions with significant change in amplitude of low-frequency fluctuation (ALFF) were obtained in those who treated with CCT and pCCT, but not in those who received pharmacotherapy. The ALFF in cluster 1 (insula, putamen, and postcentral gyrus in left cerebrum) was decreased, while the ALFF in cluster 2 (occipital medial gyrus, occipital inferior gyrus, and lingual gyrus in right hemisphere) was increased after treatment (corrected p < .05). The changes of ALFF were correlated with the reduction of Y-BOCS score and were greater in remission than in nonremission. The reduction of the fear of negative events was correlated to the changes of ALFF of clusters and the reduction of Y-BOCS score. CONCLUSIONS: The effectiveness of CCT for OCD was related to the alteration of resting-state brain function-the brain plasticity. TRIAL REGISTRATION: ChiCTR-IPC-15005969.

The current status of early use of oral β-blockers in patients with acute coronary syndrome and the association with the in-hospital outcomes / 中华心血管病杂志

Objective: To analyze the status of early use of oral β-blocker and its relationship with in-hospital outcomes in eligible patients with acute coronary syndrome (ACS). Methods: The study was based on the Improving Care for Cardiovascular Disease in China (CCC)-ACS project. The data of ACS patients that collected during 2014 to 2019 from 230 collaborating hospitals across China were analyzed. Propensity score matching method and Cox multivariate regression analysis were used to analyze the association between early use of oral β-blocker and in-hospital outcomes within 15 days. Results: A total of 38 663 eligible ACS patients were included in this study. The mean age was (57.0±9.0), and 78.8% of the ACS patients (30 470/38 663) were male. The proportion of early use of oral β-blockers was 64.9% (25 112/38 663), but varied substantially, in the 230 hospitals with a range from 0 to 100%. Compared with the patients no early use of oral β-blocker, the patients receiving early oral β-blocker had significantly lower incidence of major cardiovascular adverse events (MACEs) (3.4% (395/11 536) vs. 2.9%(339/11 536), P=0.036)and less occurrences of heart failure (2.7% (316/11 536) vs. 2.1% (248/11 536), P=0.004). Multivariate Cox regression analyses showed the patients receiving early oral β-blocker had 15.5%, 23.1%, and 35.3% lower risks of MACEs, heart failure and cardiogenic shock respectively than the patients no early oral β-blocker. Conclusions: Compared with the patients no early oral β-blocker, the patients receiving early oral β-blocker had lower risks of MACEs events, heart failure and cardiogenic shock. However, the early use of oral β-blocker in ACS patients was generally insufficient with huge differences among different hospitals in China.

Current status of thromboembolism risk assessment in patients hospitalized with non-valvular atrial fibrillation in tertiary hospitals in China / 中华心血管病杂志

Objective: To analyze the current status, trend and predictors of thromboembolism risk assessment in patients hospitalized with non-valvular atrial fibrillation (NVAF) in tertiary hospitals in China. Methods: The study was based on data from the Improving Care for Cardiovascular disease in China (CCC)-Atrial Fibrillation (AF) project. About 10% of the tertiary hospitals in each geographic-economic stratum were recruited. Participating hospitals reported the first 10 to 20 patients with a discharge diagnosis of atrial fibrillation monthly. From February 2015 to December 2019, a total of 49 104 NVAF patients from 151 tertiary hospitals in 30 provinces, municipalities and autonomous regions were enrolled. Clinical data of the patients was collected. The proportion of NVAF patients receiving thromboembolism risk assessment, variations in the proportion between different hospitals, the time trend of the application of thromboembolism risk assessment, and the predictors of the application of thromboembolism risk assessment were analyzed. Results: The age of the NVAF patients was (68.7±12.1) years, 27 709 patients (56.4%) were male. Only 17 251 patients (35.1%) received thromboembolism risk assessment. The proportion varied substantially between hospitals with the lowest value of 0 and the highest value of 100%. Among the hospitals, which enrolled more than 30 patients, no patients received thromboembolism risk assessment in 18.4% (26/141) of the hospitals, more than 50% of the patients received thromboembolism risk assessment in 21.3% (30/141) of the hospitals, and all the patients received thromboembolism risk assessment in only 1 hospital. The proportion of NVAF patients receiving thromboembolism risk assessment was 16.2% (220/1 362) in the first quarter of 2015, and significantly increased to 67.1% (1 054/1 572) in the last quarter of 2019 (P<0.001). Patients' characteristics were associated with the application of thromboembolism risk assessment. The odds of receiving thromboembolism risk assessment was lower in male patients compared to female patients(OR=0.94,95%CI 0.89-0.99), lower in patients with acute coronary syndrome or other cardiovascular diseases compared to those with AF as the primary admission reason (OR=0.59, 95%CI 0.55-0.63, OR=0.52, 95%CI 0.45-0.61, respectively), and lower in patients with paroxysmal, persistent and long-standing/permanent AF compared to those with first detected AF (OR=0.62, 95%CI 0.57-0.67, OR=0.72, 95%CI 0.66-0.79, OR=0.57, 95%CI 0.52-0.64, respectively). The odds was higher in patients with a history of hypertension, heart failure, stroke/TIA, and previous anticoagulant therapy compared to those without the above conditions (OR=1.17, 95%CI 1.11-1.23, OR=1.18, 95%CI 1.07-1.30, OR=1.17, 95%CI 1.08-1.27, OR=1.28, 95%CI 1.19-1.37, respectively) (P all<0.05). Conclusion: Thromboembolism risk assessment was underused in patients hospitalized with NVAF in tertiary hospitals in China, and there were substantial variations between hospitals in the application of thromboembolism risk assessment. The application of thromboembolism risk assessment in tertiary hospitals has been improved in recent years, but there is still plenty of room for future improvement. Patients' characteristics could affect the application of thromboembolism risk assessment in China.

Changes in cardiovascular function and related psychophysiological pathways in a rat model of post-traumatic stress disorder / 生理学报

This study was aimed to investigate the cardiovascular function in rats with post-traumatic stress disorder (PTSD) and the potential association with the activities of the rostral ventrolateral medulla (RVLM) and the medial habenular nucleus (MHb). Multi-channel in vivo recordings were used to simultaneously acquire spontaneous neuronal firing and peripheral physiological indices, and FluoroGold (FG) retrograde tracing technique was used to observe the projections of labeled neurons in the MHb. The results showed that the discharge frequency of RVLM and MHb neurons, the systolic blood pressure (SBP), and the mean arterial pressure (MAP) in the PTSD group were all increased significantly compared with those in control group (P < 0.05). MHb neurons were retrogradely labeled by FG through microinjection (4% FG, 0.5 μL) into the RVLM. In the control group, electrical stimulation in the MHb increased heart rate (HR) at 100-300 μA (P < 0.05), elevated SBP and MAP at 200-300 μA (P < 0.05), and remarkably increased the RVLM neuronal discharge frequency at 100-500 μA (P < 0.05 or P < 0.01). In the PTSD group, however, only the discharge frequency of RVLM neurons was increased by the electrical stimulation at 100-300 μA (P < 0.05). These results suggest that cardiovascular activities of the PTSD model rat are enhanced, and this change may be related to the activity changes of RVLM and MHb and the potential connection between the two nuclei.

One new coumarin from seeds of Herpetospermum pedunculosum / 中国中药杂志

This paper aims to investigate the chemical constituents of the seeds of Herpetospermum pedunculosum. One new coumarin and two known lignans were isolated from the ethanolic extract of the seeds of H. pedunculosum with thin layer chromatography(TLC), silica gel column chromatography, Sephedax LH-20 chromatography, Semi-preparative high performance liquid chromatography and recrystallization, etc. Their structures were elucidated as herpetolide H(1), phyllanglaucin B(2), and buddlenol E(3) by analysis of their physicochemical properties and spectral data. Among them, compound 1 was a new compound, and compounds 2 and 3 were isolated from this genus for the first time. In vitro anti-inflammatory activity test showed that herpetolide H had certain NO inhibitory activity for LPS-induced RAW 264.7 cells, with its IC_(50) value of(46.57±3.28) μmol·L~(-1).

Analysis of a child with holoprosencephaly due to variant of SIX3 gene / 中华医学遗传学杂志

OBJECTIVE@#To explore the genetic basis of a child with holoprosencephaly.@*METHODS@#Genomic DNA of the child was extracted and subjected to whole exome sequencing. Suspected variant was verified by Sanger sequencing of her family members.@*RESULTS@#Cranial MRI suggested lobulated holoprosencephaly with partial absence of corpus callosum. Genetic testing revealed that she has carried a heterozygous c.517C>G (p.His173Asp) variant of the SIX3 gene, for which both of her parents were of wild type. Based on the American College of Medical Genetics and Genomics guidelines, the c.517C>G variant of SIX3 gene was predicted to be pathogenic (PS2+PM1+PM2+PM5+PP3).@*CONCLUSION@#The SIX3 gene c.517C>G variant probably underlay the multiple malformations in this child. Above finding has enabled her definite diagnosis.

Network pharmacological analysis and experimental verification of anti-inflammatory and analgesic effect of Zanthoxyli Pericarpium / 中国中药杂志

To explore the mechanism of anti-inflammatory and analgesic effect of Zanthoxyli Pericarpium based on network pharmacology and inflammatory or pain mouse models. The effective components of Zanthoxyli Pericarpium were screened out by TCMSP database. And their potential corresponding targets were predicted by PharmMapper software. The possible targets relating to inflammation and pain were mainly collected through DrugBank, TTD and DisGeNET databases. The "active ingredient-gene-disease" network diagram was constructed by Cytoscape 3.7.0 software. The network pharmacology results showed 5 potential effective compounds, which were related to 29 targets; 132 targets relating to inflammation and pain were screened out in the DrugBank, TTD and DisGeNET databases. The network analysis results indicated that the phosphatidylinositol 3-kinase catalytic subunit gamma isoform(PIK3 CG) gene may be the key to the anti-inflammatory and analgesic effect of Zanthoxyli Pericarpium. The anti-inflammatory and analgesic effects of essential oil extract and dichloromethane extract of Zanthoxyli Pericarpium were explored through the mouse model of inflammation induced by xylene or carrageenan and the mouse model of pain induced by acetic acid or formalin. The experimental results showed that essential oil extract and dichloromethane extract of Zanthoxyli Pericarpium could reduce xylene-induced ear swelling and carrageenan-induced paw swelling and decrease the number of writhing responses in mice induced by acetic acid and the licking foot time of mice in phase Ⅱ induced by formalin. Western blot results showed that Zanthoxyli Pericarpium extract could inhibit the expressions of PIK3 CG, phosphonated nuclear factor kappaB(p-NF-κB) and phosphonated p38(p-p38 MAPK) protein. The present study showed the anti-inflammatory and analgesic effect of Zanthoxyli Pericarpium through multiple components and targets, so as to provide a pharmacodynamic basis for the study of Zanthoxyli Pericarpium and its mechanism.