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1.
Chinese Journal of Stomatology ; (12): 271-276, 2023.
Article in Chinese | WPRIM | ID: wpr-970786

ABSTRACT

Objective: To study the long-term morphological stability of three-dimensional (3D) printed photosensitive resin dental models under natural light and dark conditions. Methods: Eighty sets of resin dental models were made by the desktop 3D printer from one digital standard model set, and randomly divided into two groups, namely natural light group (40 sets) and dark group (40 sets). All resin models were stored in sealed bags, with 4 model sets from each group randomly collected after 1, 3, 5, 7, 14, 21, 28, 40, 60, or 90 days of storage and 3D scanned using an optical model scanner. The root-mean-square error (RMSE) was calculated to represent the mean deviation of the difference between the digital standard model and the scanned resin model. Meanwhile, three linear indexes (the width between the canines, the width between the first molars, and the arch length) of the resin dental model were measured and compared with the corresponding values of the standard model. RMSE and the linear measurements between the digital standard model and the scanned resin models were compared between the natural light group and the dark group and among models from different time points. Results: Compared with the digital standard model, the RMSE values of 96.9% (155/160) resin dental models were less than 0.1 mm within 90-day storage. Also, at the same time point, there was no significant difference in the RMSE between the natural light group and the dark group (P>0.05). 75.0% (360/480) of the absolute values of the linear differences (differences in inter-canine width, intra-molar width, and arch length between the digital standard model and the scanned resin model) were within 0.2 mm, and about 0.1% (3/480) of the linear differences were greater than 0.5 mm, and all of the linear differences were within 0.6 mm. Conclusions: 3D-printed resin dental models can be stored stably under natural light and dark conditions for a long time.

2.
Journal of Clinical Hepatology ; (12): 2432-2442, 2023.
Article in Chinese | WPRIM | ID: wpr-998311

ABSTRACT

ObjectiveTo establish a modified BISAP scoring system, and to investigate the value of the BISAP scoring system versus the modified BISAP scoring system in assessing the severity and condition of acute pancreatitis (AP). MethodsFor the establishment of the new scoring system, a retrospective analysis was performed for the clinical data of 1 033 patients with AP who were admitted to Third Xiangya hospital of central South University from January 2019 to December 2021, and according to the revised Atlanta classification, they were divided into mild acute pancreatitis (MAP) group with 827 patients and severe acute pancreatitis (SAP) group with 206 patients. The two groups were compared in terms of clinical features, laboratory markers, and imaging data. A binary logistic regression analysis was performed for the statistically significant indicators to screen for the independent risk factors for SAP. The receiver operating characteristic (ROC) curve was used to obtain the optimal cut-off value corresponding to the maximum Youden index for each independent risk factor, and a score of 0 or 1 was assigned depending on different situations, which was integrated into the BISAP scoring system to establish a modified BISAP scoring system. For the validation of the new scoring system, a retrospective analysis was performed for the clinical data of 473 patients with AP who were admitted to Third Xiangya hospital of central South University from January 2017 to December 2018. BISAP score and modified BISAP score were determined for each patient, and the area under the ROC curve (AUC) was used to compare the value of the two scoring systems in predicting the severity and prognosis of AP. The chi-square test or the Fisher’s exact test was used for comparison of categorical data between two groups, and the independent-samples t test and the Mann-Whitney U test were used for comparison of continuous data between two groups. ResultsFor the establishment of the new scoring system, there were significant differences between the MAP group and the SAP group in mode of admission, length of hospital stay, ICU admission rate, number of deaths, underlying diseases, and incidence rate of complications (all P<0.05). The binary logistic regression analysis showed that body temperature, neutrophil-to-lymphocyte ratio (NLR), C-reactive protein (CRP), albumin, triglycerides, D-dimer, fibrinogen, and MCTSI score were independent risk factors for SAP (all P<0.05). The ROC curve analysis showed that CRP (AUC=0.921), NLR (AUC=0.798), D-dimer (AUC=0.768), and MCTSI score (AUC=0.931) had a good predictive value for SAP, and the combination of these four indicators had an AUC of 0.976 and showed a significantly higher diagnostic efficiency than each indicator alone or the combination of two or three indicators (all P<0.05). For the validation of the new scoring system, a total of 473 patients were enrolled, with 408 in the MAP group and 65 in the SAP group, and there were significant differences between the two groups in mode of admission, length of hospital stay, ICU admission rate, number of deaths, and incidence rate of complications (all P<0.05). The modified BISAP score was better than the BISAP score in predicting SAP (AUC: 0.972 vs 0.887, P<0.05), with an optimal cut-off value of >3 points. The modified BISAP score also had a relatively high value in predicting the mortality of AP patients (AUC=0.910), but there was no significant difference between the modified BISAP score and the BISAP scoring system (AUC: 0.910 vs 0.896, P=0.707). ConclusionThe modified BISAP score is better than the BISAP score in predicting the severity of AP and has a relatively high value in predicting the mortality of AP patients, giving a more accurate, objective, and early assessment of the condition of AP patients.

3.
Chinese Journal of Endocrinology and Metabolism ; (12): 625-631, 2023.
Article in Chinese | WPRIM | ID: wpr-994370

ABSTRACT

Osteosarcopenia is a geriatric disease in which sarcopenia and osteoporosis coexist. With the aging, the incidence of osteosarcopenia will increase significantly in the next few decades, with adverse consequences including a higher risk of falls, fractures, weakness, and death. Early diagnosis and intervention of osteosarcopenia are of great significance in improving the quality of life of the elderly. This article reviews the diagnosis, molecular mechanisms, adverse consequences, and possible treatment options for osteosarcopenia.

4.
China Journal of Orthopaedics and Traumatology ; (12): 1200-1206, 2022.
Article in Chinese | WPRIM | ID: wpr-970809

ABSTRACT

Knee joint distraction is a new technology for the treatment of knee osteoarthritis in recent years. It could reduce knee pain and improve knee function, which is inseparable from the role of cartilage repair. The mechanism and influencing factors of knee joint distraction in repairing cartilage are the focus of current research. In this paper, the author reviewed literature and found that knee joint distraction could reduce knee joint load and provide a appropriate mechanical environment for cartilage repair, and it is resulting hydrostatic pressure fluctuation in the knee joint not only helps cartilage to absorb nutrients, but also promotes cartilage formation genes and inhibits cartilage matrix degrading enzyme gene expression. In addition, knee joint distraction creates conditions for synovial mesenchymal stem cells to be collected to cartilage injury, and improves ability of synovial mesenchymal stem cells to proliferate and differentiate into a chondrogenic lineage. Knee joint distraction could reduce inflammatory reaction and cartilage injury of knee joint by reducing content of inflammatory factors and inhibiting expression of inflammatory genes. At present, it is known that the factors affect repair of cartilage by knee joint distraction include, increasing weight-bearing activity and height and time of distraction is helpful for cartilage repair, male patients and patients with higher severity of knee osteoarthritis have better cartilage repair effect after knee joint distraction.The better efficacy of cartilage repair on the first year after knee joint distraction predicts a higher long-term survival rate of knee joint distraction with knee preservation. However, the research on the above hot spots is only at the initial stage and further exploration is still needed, in order to better guide clinical application of knee joint distraction.


Subject(s)
Humans , Male , Osteoarthritis, Knee , External Fixators , Knee Joint/surgery , Osteogenesis, Distraction/methods , Cartilage , Cartilage, Articular/surgery
5.
International Eye Science ; (12): 274-279, 2022.
Article in English | WPRIM | ID: wpr-913037

ABSTRACT

@#AIM:To profile gene expression changes induced by dexamethasone in human trabecular meshwork using bioinformatics analysis, and to elucidate the possible mechanisms involved in the pathogenesis of glucocorticoid-induced glaucoma(GIG). <p>METHODS:The gene expression dataset GSE37474 was obtained from the Gene Expression Omnibus(GEO). GEO2R was utilized to identify differentially expressed genes(DEGs)in trabecular meshwork between the dexamethasone group and the control group. Gene Ontology(GO)function annotation and the Kyoto Encyclopedia of Genes and Genomes(KEGG)pathway enrichment were constructed using the DAVID database. STRING database and Cytoscape software were used to construct protein-protein interaction(PPI). The hub genes were screened by CytoHubba plug-in. Finally, the mRNA expression of key hub genes was verified by RT-PCR. <p>RESULTS:Compared to normal trabecular meshwork, dexamethasone-treated trabecular meshwork had a total of 252 DEGs, with 141 genes up-regulated and 111 genes down-regulated. GO function annotation showed that DEGs were mostly located in the extracellular matrix, where they engaged in the biological processes of positive regulation of inflammation and extracellular matrix remodeling. KEGG pathway enrichment showed that DEGs were largely involved in vascular smooth muscle contraction, arachidonic acid metabolism, ether lipid metabolism and choline metabolism. The PPI network yielded seven hub genes, three of which were up-regulated(<i>EDN1</i>, <i>FOS</i>, and <i>LPL</i>)and four of which were down-regulated(<i>CCL2</i>, <i>IGF1</i>, <i>PTGS2</i>, <i>CCL5</i>). In RT-PCR, the mRNA expression levels of the seven hub genes matched those in the gene expression profile. <p>CONCLUSION:Dexamethasone can cause dramatic changes in the gene expression profile in trabecular meshwork. The enriched pathways of DEGs and certain hub genes play an important role in the remodeling of the extracellular matrix and the regulation of aqueous humor outflow, providing a full knowledge of the molecular mechanism of GIG.

6.
Journal of Southern Medical University ; (12): 733-739, 2022.
Article in Chinese | WPRIM | ID: wpr-936370

ABSTRACT

OBJECTIVE@#To study the cytokine patterns in patients with rheumatoid arthritis (RA) and healthy individuals and identify candidate serum biomarkers for clinical diagnosis of RA.@*METHODS@#This study was conducted among 59 patients diagnosed with RA in our hospital from 2015 to 2019 with 46 age- and gender-matched healthy subjects who received regular physical examinations in our hospital as the control group. Serological autoimmune profiles of 5 RA patients and 5 healthy control subjects were obtained from human cytokine microarrays. We selected 4 differentially expressed cytokines (LIMPII, ROBO3, Periostin and IGFBP-4) and 2 soluble cytokine receptors of interest (2B4 and Tie-2) and examined their serum levels using enzyme-linked immunosorbent assay in 54 RA patients and 41 healthy control subjects. Spearman correlation test was performed to assess the correlation of serum cytokine and soluble receptor expression levels with the clinical features including rheumatoid factor (RF), erythrocyte sedimentation rate (ESR), C-reactive protein (CRP), disease activity score (DAS28) and health assessment questionnaire (HAQ). Receiver operating characteristic (ROC) curve was used to evaluate the diagnostic capability of these cytokines.@*RESULTS@#We identified 6 dysregulated cytokines and soluble receptors (2B4, LIMPII, Tie-2, ROBO3, periostin and IGFBP-4) in RA patients (P < 0.01). The serum levels of LIMPII, ROBO3 and periostin were significantly correlated with the disease activity indicators including RF (P < 0.001), CRP (P < 0.001), DAS28 (P < 0.001) and HAQ (P < 0.001) in RA patients. Among the 6 candidate cytokines, 2B4 showed the largest area under the curve (AUC) of 0.861 for RA diagnosis (P < 0.001), followed then by LIMPII, ROBO3, periostin, Tie-2 and IGFBP-4.@*CONCLUSION@#Serum levels of LIMPII, ROBO3 and periostin can be indicative of the disease activity of RA, and serum 2B4, LIMPII, periostin, ROBO3, IGFBP-4 and Tie-2 levels may serve as biomarkers for the diagnosis of RA.


Subject(s)
Humans , Arthritis, Rheumatoid/diagnosis , Biomarkers , C-Reactive Protein , Cytokines , Insulin-Like Growth Factor Binding Protein 4 , Protein Array Analysis , Receptors, Cell Surface
7.
Chinese Journal of Endocrinology and Metabolism ; (12): 526-530, 2022.
Article in Chinese | WPRIM | ID: wpr-957585

ABSTRACT

Osteoporosis and chronic psychological stress are two serious chronic degenerative diseases that cause disability and impact population health. Patients with osteoporosis often present with heavier psychological burden, lower quality of life, and frequent symptoms of depression and anxiety. There are potential common pathogenic factors, cellular mechanisms and signaling pathways between them. Considering that the number of patient with these diseases is huge and growing rapidly, it is particularly important to explore the pathogenic link between these two diseases as well as cross-effect therapeutics for osteoporosis and mental health disorders.

8.
Sichuan Mental Health ; (6): 139-143, 2021.
Article in Chinese | WPRIM | ID: wpr-987545

ABSTRACT

ObjectiveTo investigate the application value of narrative medical model in communication with cancer patients with low education level. MethodsRetrospective analysis was performed on 80 cancer patients with low education level who were hospitalized in West China Hospital of Sichuan University from March 2019 to April 2020. They were randomly divided into control group (n=40) and observation group (n=40). The control group received conventional nursing intervention, while the observation group received narrative medical nursing mode intervention. Both groups received intervention for 6 months. The Self-rating Anxiety Scale (SAS), Self-rating Depression Scale (SDS), Morisky Medication Adherence Scale (MMAS-8), Social Support Rating Scale (SSRS) and self-designed knowledge of the disease and cognition questionnaire were used for evaluation before and after intervention. ResultsAfter intervention, the SAS and SDS scores of observation group were lower than those of control group (t=7.493, 8.314, P<0.01). After intervention, medication compliance of observation group was higher than that of control group (χ2=4.012, P=0.045). SSRS subscale score and total score were higher than those in control group (t=2.198, 7.548, 2.664, 4.248, P<0.05 or 0.01). After intervention, the mastery rate of knowledge about the disease and the excellent and good rate of cognitive behavior in observation group were higher than those in control group (χ2=4.588, 5.541, P<0.05). ConclusionThe narrative medical model is of certain application value in communication with cancer patients with low education level. It can better improve the patients’ negative emotions, social support, and knowledge and cognition of the disease.

9.
Chinese Journal of Endocrinology and Metabolism ; (12): 584-588, 2021.
Article in Chinese | WPRIM | ID: wpr-911364

ABSTRACT

The Mediterranean diet refers to the dietary pattern derived from eating habits of the southern European countries along the Mediterranean coast. It is a healthy diet pattern with essential nutrients. It was reported that the incidence of osteoporosis in the Mediterranean countries is lower, so it is of particular interest to explore the effect and potential mechanism of the diet on bone health. Applying research results of the Mediterranean diet to the prevention of osteoporosis in other countries is a feasible way to reduce the incidence of osteoporosis in the future.

10.
Tissue Engineering and Regenerative Medicine ; (6): 887-893, 2021.
Article in English | WPRIM | ID: wpr-904110

ABSTRACT

BACKGROUND@#Bile duct injury (BDI), which may occur during cholecystectomy procedures and living-donor liver transplantation, leads to life-altering complications and significantly increased mortality and morbidity. Tissue engineering, as an emerging method, has shown great potential to treat BDI. Here, we aimed to explore the application of small intestinal submucosa (SIS) matrix composites with bone marrow mesenchymal stem cells (BMSCs) to treat BDI in a rabbit model. @*METHODS@#Rabbit-derived BMSCs were used as seed cells. Porcine SIS was used as the support material. Five centimetres of the common bile duct was dissected, and 1/3–1/2 of the anterior wall diameter was transversely incised to construct the rabbit BDI model. Then, SIS materials without/with BMSCs were inserted into the common bile duct of the BDI rabbits. After 1, 2, 4, and 8 weeks of implantation, the common bile duct was removed. Haematoxylin and eosin (HE) staining was used to assess pathological alterations in the common bile duct, while immunohistochemical staining and western blotting were used to detect expression of the epithelial cell markers CK19 and E-cadherin. Scanning electron microscopy was used to evaluate BMSC growth. @*RESULTS@#Compared with BMSCs alone, SIS-attached BMSCs had increased growth. HE staining showed that the injured bile duct healed well and that the complex gradually degraded as the time from implantation increased. Immunohistochemical staining and western blotting showed that compared with the control group, the in vivo complex group had significantly elevated expression levels of CK19 and E-cadherin. @*CONCLUSION@#BMSC implantation into SIS could improve BDI in rabbits, which might have clinical value for BDI treatment.

11.
Tissue Engineering and Regenerative Medicine ; (6): 887-893, 2021.
Article in English | WPRIM | ID: wpr-896406

ABSTRACT

BACKGROUND@#Bile duct injury (BDI), which may occur during cholecystectomy procedures and living-donor liver transplantation, leads to life-altering complications and significantly increased mortality and morbidity. Tissue engineering, as an emerging method, has shown great potential to treat BDI. Here, we aimed to explore the application of small intestinal submucosa (SIS) matrix composites with bone marrow mesenchymal stem cells (BMSCs) to treat BDI in a rabbit model. @*METHODS@#Rabbit-derived BMSCs were used as seed cells. Porcine SIS was used as the support material. Five centimetres of the common bile duct was dissected, and 1/3–1/2 of the anterior wall diameter was transversely incised to construct the rabbit BDI model. Then, SIS materials without/with BMSCs were inserted into the common bile duct of the BDI rabbits. After 1, 2, 4, and 8 weeks of implantation, the common bile duct was removed. Haematoxylin and eosin (HE) staining was used to assess pathological alterations in the common bile duct, while immunohistochemical staining and western blotting were used to detect expression of the epithelial cell markers CK19 and E-cadherin. Scanning electron microscopy was used to evaluate BMSC growth. @*RESULTS@#Compared with BMSCs alone, SIS-attached BMSCs had increased growth. HE staining showed that the injured bile duct healed well and that the complex gradually degraded as the time from implantation increased. Immunohistochemical staining and western blotting showed that compared with the control group, the in vivo complex group had significantly elevated expression levels of CK19 and E-cadherin. @*CONCLUSION@#BMSC implantation into SIS could improve BDI in rabbits, which might have clinical value for BDI treatment.

12.
Acta Academiae Medicinae Sinicae ; (6): 445-451, 2021.
Article in Chinese | WPRIM | ID: wpr-887878

ABSTRACT

Breast cancer patients with bone,liver and lung metastases tend to have a poor prognosis.According to Paget's "seed and soil" theory,metastatic cancer cell "seeds" must fall on congenial target organ "soil".Studies have shown that myeloid-derived suppressor cells(MDSCs)can be recruited at the site of breast cancer metastasis in advance and play a role in the metastasis of breast cancer cells.This paper reviews the biological characteristics of MDSCs,the roles of MDSCs in peripheral circulation,prometastatic niche,and metastatic site during breast cancer metastasis,as well as the research progress of MDSCs-targeted treatment of breast cancer metastasis.


Subject(s)
Female , Humans , Breast Neoplasms , Lung Neoplasms , Myeloid-Derived Suppressor Cells , Neoplasm Metastasis , Tumor Microenvironment
13.
Chinese Medical Journal ; (24): 1310-1316, 2021.
Article in English | WPRIM | ID: wpr-878104

ABSTRACT

BACKGROUND@#Epigenetics, especially DNA methylation, plays an important role in the pathogenesis of primary Sjogren syndrome (pSS). Our study aimed to reveal the role of DNA methylation in peripheral monocytes of pSS patients.@*METHODS@#A total of 11 pSS patients and five age-matched healthy controls (HCs) were included in this study. Monocytes were isolated from peripheral blood mononuclear cells using magnetic microbeads. DNA methylation profiles were generated using Human Methylation 850K BeadChips.@*RESULTS@#In monocytes from pSS patients, we identified 2819 differentially methylated positions (DMPs), comprising 1977 hypomethylated- and 842 hypermethylated-DMPs, corresponding to 1313 unique genes when compared with HCs. IFI44L, MX1, PAARP9, and IFITM1, which influence the interferon (IFN) signaling pathway, were among the genes hypomethylated in pSS. Functional analysis of genes with a minimum of two DMPs showed involvement in antigen binding, transcriptional regulation, cell adhesion, IFN-γ pathway, type I IFN pathway, antigen presentation, Epstein-Barr virus infection, human T-lymphotropic virus type 1 virus infection, and metabolic disease-related pathways. In addition, patients with higher serum IgG levels exhibited enrichment in Notch signaling and metabolic-related pathways. Upon comparing monocytes with salivary gland epithelial cells, an important overlap was observed in the cell cycle, cell senescence, and interleukin-17 signaling pathways. The differentially methylated genes were more enriched in the ribosome- and AMP-activated protein kinase signaling pathway in anti-Ro/SSA and anti-La/SSB autoantibodies double-positive patients.@*CONCLUSION@#Genome-wide DNA methylation profiling revealed significant differences in DNA methylation in monocytes isolated from patients with pSS.


Subject(s)
Humans , DNA Methylation/genetics , Epstein-Barr Virus Infections , Herpesvirus 4, Human , Leukocytes, Mononuclear , Monocytes , Sjogren's Syndrome/genetics
14.
Journal of Experimental Hematology ; (6): 1540-1547, 2021.
Article in Chinese | WPRIM | ID: wpr-922292

ABSTRACT

OBJECTIVE@#To analyze the disease types, clinical manifestations, efficacy and outcome of JAK2 V617F and BCR-ABL double-mutant myeloproliferative neoplasms (MPN), and provide a reference for the diagnosis, treatment and prognosis of MPN.@*METHODS@#The clinical characteristics, diagnosis, therapeutic efficacy and outcome of JAK2 V617F and BCR-ABL double-mutant MPN were analyzed comprehensitively by combining a clinical case diagnosed and treated in our hospital with literature cases from CNKI and PubMed databases.@*RESULTS@#A total of 38 related literatures were retrieved from the two databases by searching "JAK2 V617F" and "BCR-ABL" as key words from 1990 to 2019, and 59 cases were involved. Among all the 60 cases, 41 were males (68.3%) with a median age of 61 (32-77) years old, while 19 were females (31.7%) with a median age of 58 (21-82) years old. The BCR-ABL fusion gene and JAK2 V617F mutation were found simultaneously in 21 cases (35%), 19 cases (31.7%) with JAK2 V617F mutation were found during the treatment of Philadelphia chromosome (Ph)-positive chronic myelogenous leukemia (CML). Ph@*CONCLUSION@#As cases of BCR-ABL and JAK2 V617F double-mutant MPN are reported, simultaneous detection of JAK2 V617F mutation and BCR-ABL fusion gene in MPN patients is necessary to avoid misdiagnosis and missed diagnosis.


Subject(s)
Adult , Aged , Aged, 80 and over , Female , Humans , Male , Middle Aged , Young Adult , Fusion Proteins, bcr-abl/genetics , Janus Kinase 2/genetics , Myeloproliferative Disorders/genetics , Polycythemia Vera , Thrombocythemia, Essential
15.
Chinese Journal of Experimental Traditional Medical Formulae ; (24): 155-163, 2021.
Article in Chinese | WPRIM | ID: wpr-906343

ABSTRACT

Objective:To explore the material basis and mechanism of Sangjiang Ganmao injection (SG) in the treatment of common cold by ultra-performance liquid chromatography-quadrupole/electrostatic field orbitrap high resolution mass spectrometry (UPLC-Q-Orbitrap HRMS) and network pharmacology. Method:UPLC-Q-Orbitrap HRMS was used to identify the chemical components of SG with mobile phase of acetonitrile (A)-0.1% formic acid aqueous solution (B) for gradient elution (0-10 min, 4%-15%A; 10-35 min, 15%-30%A; 35-45 min, 30%-33%A; 45-55 min, 33%-60%A; 55-58 min, 60%A), flow rate of 0.2 mL·min<sup>-1</sup>, electrospray ionization (ESI) and scanning range of <italic>m</italic>/<italic>z</italic> 100-1 500 under positive and negative ion modes. Traditional Chinese Medicine Systems Pharmacology Database and Analysis Platform (TCMSP) and GeneCards 5.0 database were used to screen and predict the potential targets of chemical components in SG, STRING 11.0 database and Cytoscape 3.7.2 software were used to construct protein-protein interaction (PPI) network model, gene ontology (GO) analysis and pathway analysis were performed on potential targets by Metascape 3.5, Reactome database and Kyoto Encyclopedia of Genes and Genomes (KEGG), Cytoscape 3.7.2 software was used to build the network of "herbs-ingredients-key targets". Result:A total of 54 components in SG were identified, and 80 potential targets of SG for treatment of common cold were predicted and screened based on this. SG exerted therapeutic effects by acting on targets such as interleukin (IL)-6, tumor necrosis factor (TNF) and IL-10, and signaling pathways such as IL-17 signaling pathway, TNF signaling pathway and interaction of cytokine receptors. Conclusion:SG may interfere with the expression of inflammatory cytokines by acting on related targets and pathways such as inflammation and immune system, and regulate the immune function of the body as a whole, thereby exerting a therapeutic effect.

16.
Acta Academiae Medicinae Sinicae ; (6): 25-31, 2021.
Article in Chinese | WPRIM | ID: wpr-878693

ABSTRACT

Objective To summarize clinical characteristics and investigate possible pathogenic gene of Klippel-Feil syndrome(KFS)by the self-designed multigene panel sequencing,so as to decipher the molecular basis for early diagnosis and targeted therapy.Methods From January 2015 to December 2018,we consecutively recruited 25 patients who were diagnosed with KFS in Peking Union Medical College Hospital.The demographic information,clinical manifestations,physical examination and radiological assessments were analyzed.Multigene panel sequencing was performed after DNA extraction from peripheral blood.The possible pathogenic mutations of KFS were explored on the basis of bioinformatics analysis.Results The KFS cohort consisted of 25 patients,including 15 males and 10 females,with a mean age of(12.9±7.3)years.Limited cervical range of motion was the most common clinical feature(12 cases,48%).Based on the Samartzis classification,the proportion of patients suffered from short neck(P=0.031)and limited cervical range of motion(P=0.026)in type Ⅲ KFS was significantly higher than that in type Ⅱ and type Ⅰ KFS.Panel sequencing detected a total of 11 pathogenic missense mutations in eight patients,including COL6A1,COL6A2,CDAN1,GLI3,FLNB,CHRNG,MYH3,POR,and TNXB.There was no pathogenic mutation found in five reported pathogenic genes(GDF6,MEOX1,GDF3,MYO18B and RIPPLY2)associated with KFS.Conclusions Our study has shown that patients with multiple contiguous cervical fusions are more likely to manifest short neck,limited cervical range of motion,and clinical triad.Therefore,these patients need additional attention and follow-up.Our analysis highlights novel KFS-related genetic variants,such as COL6A and CDAN1,extending the spectrum of known mutations contributing to this syndrome and providing a basis for elucidating the pathogenesis of KFS.


Subject(s)
Child , Female , Humans , Male , Cervical Vertebrae , Cohort Studies , Glycoproteins , Klippel-Feil Syndrome/genetics , Mutation , Nuclear Proteins , Radiography , Transcription Factors/genetics
17.
Acta Pharmaceutica Sinica ; (12): 272-275, 2020.
Article in Chinese | WPRIM | ID: wpr-789024

ABSTRACT

To determine the relationship between the effect of wuzhi capsules on the blood concentration of tacrolimus as compared to diltiazem and with regard to cytochrome P450 (CYP)3A5 gene polymorphisms, 170 patients who underwent renal transplantation from November 2014 to March 2018 and used tacrolimus combined with diltiazem 30 mg bid were selected in this study retrospectively. Patients were divided into an observation group (105 patients) and a control group (65 patients) according to whether they used wuzhi capsules after the operation. The polymorphisms of CYP3A5*3 were determined and the effect of wuzhi capsules on the blood concentration of tacrolimus, as compared with that of diltiazem was determined in patients with different CYP3A5*3 genotypes. This study complies with relevant ethical norms. The results show that compared with diltiazem, an increase of tacrolimus C0/D was significantly correlated with the patient's CYP3A5*3 genotype in both the self-control and the control group. CYP3A5 expressers in the observation group were able to increase the tacrolimus C0/D by about 76.8% by replacing the wuzhi capsules with diltiazem, but this effect was not observed in CYP3A5 non-expressers. In CYP3A5 expressers wuzhi capsules had a greater ability relative to diltiazem to increase the blood concentration of tacrolimus.

18.
Chinese Journal of Rehabilitation Theory and Practice ; (12): 278-284, 2020.
Article in Chinese | WPRIM | ID: wpr-905775

ABSTRACT

Objective:To systematically evaluate the effects of virtual reality (VR) training on balance function for old adults. Methods:The randomized controlled trials between VR training and routine rehabilitation for balance function for old adults were retrieved from databases of CNKI, Wangfang data, CBM, VIP, Web of Science, PubMed, Clinical Science, EMBASE, Science Direct, Medline, Cohrane Library and Google Scholar. The literatures were screened, data were extracted and the risk of bias were assessed, and analysed with RevMan. Results:A total of 20 randomized controlled trials were included. Compared with the routine rehabilitation, VR training promoted recovery in score of Berg Balance Scale (BBS) for all the old adults (WMD = 2.33, 95%CI 0.88 to 3.78), those < 75 years old (WMD = 2.59, 95%CI 0.22 to 4.97) and > 75 years old (WMD = 2.69,95%CI 1.82 to 3.57). VR training also promoted recovery in time of Timed "Up & Go" Test (TUGT) for all the old adults (WMD =  -0.96, 95%CI -1.65 to -0.28) and those < 75 years old (WMD = -1.06, 95%CI -1.98 to -0.15), but those > 75 years old (WMD = -0.81, 95%CI -1.98 to 0.37). Conclusion:VR training may promote the recovery of balance and walking for old adults.

19.
Asian Journal of Andrology ; (6): 335-341, 2020.
Article in Chinese | WPRIM | ID: wpr-842439

ABSTRACT

Peripheral nerve damage, such as that found after surgery or trauma, is a substantial clinical challenge. Much research continues in attempts to improve outcomes after peripheral nerve damage and to promote nerve repair after injury. In recent years, low-intensity pulsed ultrasound (LIPUS) has been studied as a potential method of stimulating peripheral nerve regeneration. In this review, the physiology of peripheral nerve regeneration is reviewed, and the experiments employing LIPUS to improve peripheral nerve regeneration are discussed. Application of LIPUS following nerve surgery may promote nerve regeneration and improve functional outcomes through a variety of proposed mechanisms. These include an increase of neurotrophic factors, Schwann cell (SC) activation, cellular signaling activations, and induction of mitosis. We searched PubMed for articles related to these topics in both in vitro and in vivo animal research models. We found numerous studies, suggesting that LIPUS following nerve surgery promotes nerve regeneration and improves functional outcomes. Based on these findings, LIPUS could be a novel and valuable treatment for nerve injury-induced erectile dysfunction.

20.
Chinese Journal of cardiovascular Rehabilitation Medicine ; (6): 590-594, 2019.
Article in Chinese | WPRIM | ID: wpr-790135

ABSTRACT

Objective :To study application value of serum sCD40L and NT‐proBNP levels detection in early diagnosis and prognosis assessment of aged patients with heart failure (HF).Methods :A total of 73 aged HF patients treated in our hospital from Feb 2015 to Feb 2017 were selected as HF group .According to NYHA cardiac function class , HF group was divided into class Ⅱ group (n=37) and class Ⅲ group (n=36).A total of 112 healthy people ,who had a physical examination in our hospital at the corresponding period ,were selected as health group .HF group were treated for one month .Incidence of major adverse cardiovascular events (MACE) within one‐month was re‐corded .According to MACE during one‐month follow‐up ,HF group was divided into MACE group (n=20) and no MACE group (n=53).Serum levels of sCD40L and NT‐proBNP were measured and compared between HF group before treatment and health group ;class Ⅱ group and class Ⅲ group before and after treatment ;MACE group and no MACE group .Results :There were significant rise in serum levels of sCD 40L and NT‐proBNP in HF group be‐fore treatment compared with health group , P=0. 001 all.Compared with before treatment ,there were significant reductions in serum levels of sCD40L and NT‐proBNP in class Ⅱ group and class Ⅲ group , P= 0.001 all.After treatment ,compared with class Ⅲ group there was significant reduction in serum level of sCD40L [ (8.31 ± 0.76) ng/ml vs .(7.37 ± 0.81) ng/ml] in class Ⅱ group , P=0. 001. During one‐month follow‐up ,20 cases of MACE oc‐curred in HF group (n=73) and incidence of MACE in HF group was 27.40% .Compared with MACE group ,there were significant reductions in serum levels of sCD 40L [ (10.26 ± 1.54) ng/ml vs.(11. 49 ± 1. 81) ng/ml] and NT‐proBNP [(612. 28 ± 122. 76) ng/L vs.(1072.25 ± 245.68) ng/L] in no MACE group ,P=0. 001 all.Conclusion :Se‐rum sCD40L and NT‐proBNP levels detection possesses good application value in early diagnosis and prognosis assess‐ment for aged patients with HF ,which is worth extending .

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