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1.
Journal of Preventive Medicine ; (12): 217-221, 2022.
Article in Chinese | WPRIM | ID: wpr-920755

ABSTRACT

Objective@#To establish a prediction model of herpangina epidemic trend based on Baidu index and hand, foot and mouth disease, so as to provide insights into analyses of communicable disease epidemics with limited or missing surveillance data.@*Methods@#The incidence of hand, foot and mouth disease in Zhejiang Province during the period from the first week of 2015 through the 39th week of 2021 was retrieved from the China Information System for Disease Control and Prevention, and the Baidu index of hand, foot and mouth disease and herpangina was collected via the Baidu search engine during the same period. The correlation between the Baidu index and time series of hand, foot and mouth disease was examined using wavelet analysis. In addition, a random forest training model was created based on the Baidu index and incidence of hand, foot and mouth disease, and the fitting effectiveness was evaluated using the mean percentage error, while the Baidu index of herpangina was included in the model to predict the epidemic trend of herpangina during the study period.@*Results@#The Baidu index of herpangina and hand, foot and mouth disease, and the Baidu index and incidence of hand, foot and mouth disease all appeared two peaks at the 26th and 52th week. The phase difference was less than 0.1 week between the Baidu index and time series of hand, foot and mouth disease, and the mean percentage error of the training model was 13.07%, with high concordance between the predicted number and actual report number of cases with hand, foot and mouth disease. The numbers of herpangina cases were predicted to be 28 822, 27 341, 28 422, 51 782, 52 457 and 5 691 from 2015 to 2020, and there were totally 48 702 herpangina cases reported until the 39th week of 2021. Like hand, foot and mouth disease, the incidence of herpangina peaked between May and July.@*Conclusion@#The random forest training model based on the Baidu index and incidence of hand, foot and mouth disease is feasible to predict the epidemic trend of herpangina.

2.
Chinese Journal of Neurology ; (12): 1025-1032, 2021.
Article in Chinese | WPRIM | ID: wpr-911830

ABSTRACT

Objective:To investigate the early predictive factors of periprocedural thrombus migration and the relationship between periprocedural thrombus migration and prognosis after mechanical thrombectomy (MT) in stroke patients.Methods:The patients with anterior circulation acute large vessel occlusion stroke (ALVOS) who underwent MT in the Stroke Center of Yijishan Hospital of Wannan Medical College from May 2015 to December 2019 were retrospectively analyzed. The baseline characteristics, procedural and clinical outcomes were collected. Univariate and multivariate regression analysis was used to explore the risk factors of thrombus migration and the relationship between thrombus migration and prognosis of patients.Results:There were 302 ALVOS patients [(68.8±11.0) years old and 166 males (55.0%)] included, of whom thrombus migration was identified in 80 patients (26.5%), including 60 cases (75.0%) of proximal migration. Cardiogenic stroke ( OR=2.722, 95% CI 1.367-5.418, P=0.004) and clot burden score (CBS; OR=0.849, 95% CI 0.745-0.968, P=0.015) were independent risk factors of thrombus migration. Proximal migration ( OR=2.822, 95% CI 1.220-6.528, P=0.015) was an independent risk factor of 90-day clinical outcome, while the effect of distal migration on 90-day clinical outcome was not statistically significant. Conclusions:Cardiogenic stroke and lower CBS score are independent predictors of periprocedural thrombus migration in ALVOS patients who underwent MT. Proximal migration is an independent risk factor for the prognosis of patients, which has important clinical intervention significance.

3.
Chinese Journal of Trauma ; (12): 1112-1118, 2021.
Article in Chinese | WPRIM | ID: wpr-909984

ABSTRACT

Objective:To systematically compare the prognosis in non-compressible torso hemorrhage(NCTH)treated by resuscitative endovascular balloon occlusion of the aorta(REBOA)and resuscitation thoracotomy(RT).Methods:Data were searched form MEDLINE, EMBASE, PubMed, WanFang, CNKI and VIP databases to collect studies on the prognosis of patients with NCTH undergone REBOA and RT from inception to December 2020. Two reviewers independently screened studies according to the inclusion and exclusion criteria, extracted data and evaluated the quality of the included studies. The Meta-analysis was performed using Revman 5.3. The patients were divided into REBOA group and RT group according to the different surgical treatment methods on admission, and the prognosis of each group was evaluated. The difference of mortality rate, reoperation rate of laparotomy after operation, reoperation rate of embolization after operation and mortality rate in different operating room area were compared between the two groups. Publication bias was assessed using the Egger test.Results:A total of 2 prospective studies and 4 retrospective studies involving 2, 588 subjects were included. There were 1, 591 patients in REBOA group and 997 patients in RT group. Significant differences were observed in the mortality rate( I2=68%, OR=0.33, 95% CI 0.26-0.42, P<0.01), reoperation rate of laparotomy after operation( I2=76%, OR=1.41, 95% CI 1.11-1.77, P<0.01)and reoperation rate of embolization after operation( I2=84%, OR=0.76, 95% CI 0.59-0.99, P<0.05)between REBOA group and RT group. Subgroup analysis showed that the mortality rate in the ICU were not statistically different between the two groups( I2=83%, OR=0.69, 95% CI 0.45-1.05, P>0.05), but the mortality rate in the emergency room was lower in REBOA group than that in RT group( I2=94%, OR=0.52, 95% CI 0.38-0.70, P<0.01). Egger test showed that publication bias had little effect on the results. Conclusions:For patients with NCTH, REBOA can reduce the mortality rate and reoperation rate of embolization after operation, but increase the reoperation rate of laparotomy after operation when compared with RT. In addition, the emergency room may be a more suitable operationg room area for REBOA.

4.
Journal of Chinese Physician ; (12): 1433-1436, 2021.
Article in Chinese | WPRIM | ID: wpr-909718

ABSTRACT

Aplastic anemia(AA) is characterized by severe pancytopenia. The clinical features of bone marrow failure syndrome are closely related to viral infection, environment toxin, genetic and acquired gene mutation. Aplastic anemia is a historic disease that often occurred in young people, which was fatal to patients. However, here are many methods can treat and cure this fatal disease. Pathological and physiological studies have important guiding significance for the treatment of aplastic anemia. The diagnosis and treatment of current situation and prospect of aplastic anemia are reviewed in this article.

5.
Article in Chinese | WPRIM | ID: wpr-908575

ABSTRACT

Objective:To analyze the pathogenic genes and clinical phenotypes of a Chinese Han family with autosomal dominant retinitis pigmentosa (ADRP).Methods:A pedigree investigation study was conducted, and a Chinese Han RP family that underwent genetic counseling in the Henan Provincial People's Hospital in November 2019 was collected.Twenty members of this family from 4 generations, including 9 patients and 11 phenotypically normal individuals, were enrolled.Visual acuity, peripheral visual field test and fundus examination were performed on some family members.Peripheral blood samples were collected from the family members, and DNA was extracted.Exon-targeted sequencing containing 43 genes associated with RP was performed on the proband using the Ion Torrent PGM sequencing platform.The mutations were verified by polymerase chain reaction and Sanger sequencing.Online software was applied to predict the protein function of the variant.The amino acid sequences of the variant loci were compared using the ClustalW2 multiplex alignment program.The pathogenicity of the variant was analyzed according to American College of Medical Genetics and Genomics (ACMG) criteria and guidelines for classification of genetic variant.This study adhered to the Declaration of Helsinki.The study protocol was approved by an Ethics Committee of Henan Provincial People's Hospital (No.HNEECKY-2019[15]).Results:The family was consistent with autosomal dominant inheritance.The proband, a 26-year-old male, had bilateral night blindness since childhood, with visual acuity of 0.25 in the right eye and 0.5 in the left eye.There was osteoblast-like pigmentation in his both retinas, thinned retinal vessels and pale optic disc.Full-field electroretinogram examination showed reduced scotopic a- and b-wave peaks and severely reduced photopic a- and b-wave peaks.The rest of the family began to develop night blindness when 7 to 10 years old, having complete loss of peripheral vision around 50 years of age, and typical RP changes were found in ophthalmic examination.Genetic testing revealed a heterozygous missense variant c. 982delC (p.L328fs) in exon 5 of the family's rhodopsin ( RHO) gene (NM_000539.3). This variant resulted in the change of 21 amino acids after amino acid 328 in the encoded RHO protein, increasing amino acids in the coding region from 348 to 358 and altering the structure of the RHO protein.The analysis of protein homology sequence alignment between several different species showed that the locus was highly conserved.According to the guidelines of the ACMG criteria and guidelines for classification of genetic variants, the variant was a pathogenic mutation because there were six evidences including one very strong evidence of pathogenicity PVS1, two moderate evidences of pathogenicity PM2 and three supporting evidences of pathogenicity, PP1, PP3 and PP4. Conclusions:The c. 982delC variant in the RHO gene is a pathogenic mutation in this pedigree, and this variant is reported for the first time in a Chinese Han family.

6.
Article in Chinese | WPRIM | ID: wpr-905911

ABSTRACT

Objective:To explore the potential targets and pathways of steroid alkaloids<italic> </italic>from<italic> Solanum</italic> <italic>nigrum</italic> (SASN) in the treatment of non-small cell lung cancer (NSCLC) and analyze the possible mechanism. Method:The active SASN against NSCLC were searched from literature. Then potential targets of SASN were screened through SwissTargetPrediction and PharmMapper, and those of NSCLC through GeneCards. Venny was employed to yield the common targets of the two, and Cytoscape to construct the 'medicinal-component-disease-target' network. Metascape was applied to enrich the Gene Ontology (GO) terms and Kyoto Encyclopedia of Genes and Genomes (KEGG) pathways of the common targets, and STRING was used to generate the protein-protein interaction (PPI) network, followed by screening of key targets by Cytoscape. Finally, Western blot was used to verify the effects of the medicinal on key targets. Result:A total of 6 active SASN were screened out: solasonine, solamargine, solasodine, solanocapsine, solanidine, and <italic>N</italic>-methylsolasodine, which had 96 potential anti-NSCLC targets. These targets mainly involved the pathways in cancer, proteoglycans in cancer, and Forkhead box protein O (FoxO) pathway. PPI network analysis demonstrated 15 key anti-NSCLC targets of SASN, such as mitogen-activated protein kinase (MAPK)1, MAPK8, MAPK14, protein kinase B (Akt1), signal transducer and activator of transcription 3 (STAT3), and proto-oncogene tyrosine protein kinase (SRC). Meanwhile, Western blot results showed that SASN could significantly down-regulate the expression of the key proteins Akt1, SRC, and STAT3. Conclusion:We predicted the potential targets and pathways of SASN against NSCLC and obtained 15 key targets, from which we selected three key proteins for validation. The validation results were consistent with the prediction results. This paper is expected to lay a scientific basis for the subsequent in-depth study of the mechanisms of SASN against NSCLC.

7.
Article in Chinese | WPRIM | ID: wpr-921953

ABSTRACT

OBJECTIVE@#To explore the clinical feature and gene variant for two cases of primary male infertility caused by severe asthenospermia and to analyze the etiology of the disease.@*METHODS@#Genomic DNA of peripheral blood samples of patients and their parents was extracted and gene variant analysis of the patients was conducted by using whole exome sequencing. Suspected pathogenic variant was verified by Sanger sequencing and pathogenic analysis.@*RESULTS@#Whole exome sequencing showed that the DNAH1 gene of patient 1 had two heterozygous variants of c.2016T>G(p.Y672X) and c.6017T>G (p.V2006G). The DNAH1 gene of patient 2 had a homozygous variant of c.2610G>A(p.W870X), which were inherited from his father and mother, respectively. According to American College of Medical Genetics and Genomics standards and guidelines, the c.2016T>G (p.Y672X) and c.2610G>A (p.W870X) varaints of DNAH1 gene were predicted to be pathogenic (PVS1+PM2+PM3+PP3).@*CONCLUSION@#The two patients of multiple morphological abnormalities of the sperm flagella may be caused by DNAH1 gene variant, which has resulted in primary male infertility.


Subject(s)
Dyneins/genetics , Genomics , Humans , Infertility, Male/genetics , Male , Mutation , Sperm Tail/pathology , Whole Exome Sequencing
8.
Article in Chinese | WPRIM | ID: wpr-878949

ABSTRACT

Network pharmacology, molecular docking and in vivo experiments were used to explore the pharmacodynamic basis and potential mechanism of Danggui Sini Decoction in the treatment of primary dysmenorrhea(PD). The chemical constituents of Danggui(Angelicae Sinensis Radix), Guizhi(Cinnamomi Ramulus), Tongcao(Tetrapanacis Medulla), Baishao(Paeoniae Radix Alba), Xixin(Asari Radix et Rhizoma), Gancao(Glycyrrhizae Radix et Rhizoma), and Dazao(Jujubae Fructus) from Danggui Sini Decoction were retrieved through TCMSP(Traditional Chinese Medicine Systems Pharmacology Database), and the action targets of Danggui Sini Decoction were collected through DrugBank. "Primary dysmenorrhea" and "dysmenorrhea" were used as the key words to search the corresponding targets in the GeneCards, OMIM and TTD databases, and then the intersection targets of Danggui Sini Decoction and the primary dysmenorrhea targets were taken for reverse screening to obtain the corresponding active ingredients. Cytoscape 3.6.1 software was used to construct a traditional Chinese medicine-compound-target-disease network; STRING database was used to build a protein-protein interaction(PPI) network; Gene ontology(GO) function enrichment analysis and Kyoto encyclopedia of genes and genomes(KEGG) pathway enrichment analysis were conducted by using DAVID database. The action mechanism of the intersection targets were then predicted, and a histogram chart and bubble chart were drawn for visualization. Then the top five targets in the PPI network were used for docking with the most compounds. In animal experiments, Sprague Dawley(SD) female rats were used to establish a primary dysmenorrhea model by intraperitoneal injection of diethylstilbestrol once a day. A total of 60 SD female rats were randomly divided into 6 groups, namely control group, model group, Danggui Sini Decoction low(1.5 g·kg~(-1)), medium(3.0 g·kg~(-1)), high(6.0 g·kg~(-1)) dose groups, and ibuprofen(20 mg·kg~(-1)) positive control group, with 10 rats in each group. From day 4, except for the control group, rats in the other groups were given intragastric administration of corresponding drugs, and the control group received intragastric administration of normal saline for 7 consecutive days. The number of writhing before and after the administration, the ute-rine contraction inhibition rate and the uterine index after administration were observed, and ELISA assay was used to detect the levels of prostaglandin-endoperoxide synthase 2(PTGS2) and vascular endothelial growth factor A(VEGFA) in the tissues of each group as well as the levels of serum inflammatory factors interleukin 1(IL-1), interleukin 6(IL-6), and tumor necrosis factor-alpha(TNF-α). According to network analysis, 7 Chinese medicines contained 114 active ingredients, 149 targets, and 30 common target genes with PD were obtained. The key targets included VEGFA, IL6, PTGS2, TNF, etc.; GO function enrichment analysis showed a total of 399 terms(P<0.05) were obtained, 353 of which were biological process(BP) terms, 21 were cell composition(CC) terms, and 25 were molecular function(MF) terms. In KEGG pathway enrichment analysis, 14 signaling pathways were obtained, 3 of which were related to inflammation, namely arachidonic acid metabolism, MAPK signaling pathway and NOD-like receptor signaling pathway. The compounds in Danggui Sini Decoction can play a therapeutic role in the treatment of PD by acting on VEGFA, IL-6, PTGS2, TNF and other targets to regulate arachidonic acid and inflammatory signaling pathways.


Subject(s)
Animals , Drugs, Chinese Herbal , Dysmenorrhea/drug therapy , Female , Humans , Molecular Docking Simulation , Rats , Rats, Sprague-Dawley , Vascular Endothelial Growth Factor A
9.
Chinese Journal of Nephrology ; (12): 168-175, 2021.
Article in Chinese | WPRIM | ID: wpr-885491

ABSTRACT

Objective:To summarize the diagnosis features of the prenatal genetic diagnosis of fetal renal cystic disease and to explore the clinical feasibility and significance of prenatal genetic diagnosis of congenital cystic nephrosis.Methods:A total of 25 fetuses with congenital renal cystic disease were examined via invasive prenatal diagnosis in Henan Provincial People's Hospital from June 2017 to September 2019. Amniotic fluid samples were extracted by amniocentesis. Chromosomal microarray analysis (CMA) were performed in 17 cases. In addition to CMA, the other 8 cases were analyzed by G-band karyotype. Whole exome sequencing (WES) was performed in 6 cases which got normal results by CMA and karyotype, and highly suspected as hereditary disease.Results:Of the 25 fetuses assessed, 4 cases (16.0%) pathogenic copy number variation (pCNV) were found, including 2 cases of 17q12 deletion, 1 case of 10p15.1p14 deletion and 1 case of 4q21.28q22.1 deletion(including PKD2 gene). There were 8 cases without chromosome abnormality by karyotype analysis. Six clinical WES analysis found NPHS1 gene c.1440+1 G>A and c.925G > T mutations were related to Finnish type congenital nephrotic syndrome in 1 case, PKD1 gene c.6878C>T mutation was related to autosomal dominant polycystic kidney disease (ADPKD) in 1 case, and there was no definitive mutation in 4 cases. Conclusions:CMA and next generation sequencing are powerful tools for accurate diagnosis, treatment and genetic counseling of fetal congenital renal cystic diseases. For congenital cystic nephropathy, genetic detection is helpful to clarify the etiology, and provide more exactly informations for prognosis evaluation, treatment and family genetic counseling.

10.
Article in Chinese | WPRIM | ID: wpr-781277

ABSTRACT

OBJECTIVE@#To detect variants of ARSA gene in a child featuring late infantile metachromatic leukodystrophy (MLD).@*METHODS@#PCR and Sanger sequencing was carried out for the patient and her parents.@*RESULTS@#The patient had typical features of MLD including ARSA deficiency, regression of walking ability, and demyelination. Compound heterozygous variants of the ARSA gene, namely c.960G>A and c.244C>T, were detected in the patient, for which her mother and father were respectively heterozygous carriers. ARSA c.960G>A was known to be pathogenic, while ARSA c.244C>T was a novel variant. The same variants were not detected among 50 healthy controls.@*CONCLUSION@#The compound heterozygous variants c.960G>A and c.244C>T of the ARSA gene probably underlie the MLD in this patient.

11.
Acta Pharmaceutica Sinica ; (12): 160-167, 2020.
Article in Chinese | WPRIM | ID: wpr-780570

ABSTRACT

In order to explore MYB transcription factors related to developmental processes and secondary metabolism in Morinda officinalis, we analyzed MoMYB expression based on transcriptome data from three tissues (root, stem and leaf). We used this analysis to provide a theoretical foundation for regulating the metabolism of M. officinalis. RNA-seq data along with the five databases including PFAM and plantTFDB and others were used to screen and classify MoMYB, including GO functional annotation and classification, subcellular localization, signal peptide prediction, conserved motif discovery, and comparative phylogenetic analysis. RT-qPCR was carried out to detect tissue-specific expression differences of MoMYB genes. According to transcriptome data, 109 MoMYB sequences were identified and divided into four classes, containing 51 sequences related to R2R3-MYB. Subcellular localization analysis indicated that a majority of sequences were located in nucleus. Blast2GO analysis showed that 109 MoMYB sequences were classified into three major functional ontologies including molecular function (112), biological processes (76) and cellular components (239). The R2-MYB conserved motif of 51 R2R3-MYB sequences possessed three significantly conserved tryptophan residues, whereas a phenylalanine replaced the first tryptophan in R3-MYB. The results of multiple sequence alignment and phylogenetic analysis revealed that the R2R3-MYB was distributed in all subgroups, apart from the S10, S19 and S21 subgroups. RT-qPCR indicated that several R2R3-MYB genes were differentially expressed among the three tissues, and this finding was consistent with transcriptome data. The 109 MoMYB sequences were annotated and divided into different classes, which lays the foundation for further study on MYB transcriptional factors in M. officinalis.

12.
Chinese Journal of Dermatology ; (12): 363-365, 2020.
Article in Chinese | WPRIM | ID: wpr-870291

ABSTRACT

A female patient aged 7 years and 5 months presented with multiple skin defects of the scalp, ears, hands and in the sacrococcygeal region, and multiple joint flexion contractures of the extremities for more than 7 years. Skin examination showed skin defects of the scalp, auricles, hands and in the sacrococcygeal region, gingival swelling, and multiple joint flexion contractures of the extremities. Genetic testing of the peripheral blood revealed 2 compound heterozygous mutations c.1073delC (A359Lfs*51) and c.1073dupC (A359Cfs*13) in the anthrax toxin receptor-2 ( ANTXR2) gene in the patient, which were inherited from her mother and father respectively. The patient was diagnosed with hyaline fibromatosis syndrome. Surgical treatment was rejected, and anti-inflammatory drugs, analgesics and other drugs were administered for symptomatic treatment. During follow-up of half a year, the child occasionally had mild diarrhea, and other symptoms did not progress markedly.

13.
Chinese Journal of Geriatrics ; (12): 430-434, 2020.
Article in Chinese | WPRIM | ID: wpr-869391

ABSTRACT

Objective:To explore the predictive value of the COMPASS-cancer associated thrombosis(COMPASS-CAT)risk assessment model and the modified Khorana risk assessment model for the risk of venous thromboembolism(VTE)in elderly patients with lung cancer.Methods:A retrospective analysis was conducted on clinical data of 276 hospitalized lung cancer patients aged 60 years and over in the Cancer Hospital of the Chinese Academy of Medical Sciences and Peking Union Medical College from March 2013 to March 2017.Patients were divided into the VTE group(n=39)and the non-VTE group(n=237). The COMPASS-CAT model and the modified Khorana model were used to evaluate the risk of venous thromboembolism in the two groups.The sensitivity, specificity and Youden index of the two models were calculated.The receiver-operating characteristics(ROC)curves of the two evaluation models were drawn.The predictive effect and influence of two evaluation models on VTE risk in elderly lung cancer patients were compared by using Medcalc software analysis and multivariate Logistic regression analysis.Results:The incidence of VTE was 14.13%(39/276). The sensitivity, specificity, Youden index and the AUC under ROC curves of the COMPASS-CAT model and the modified Khorana model were 0.718 and 0.795, 0.861 and 0.527, 0.524 and 0.348, and 0.789 and 0.661, respectively.Using the Medcalc software to compare the two models, the area under the curve of the COMPASS-CAT risk assessment model was increased by 0.128, compared with the modified Khorana model( Z=2.676, P=0.0075). Multivariate Logistic regression analysis showed that COMPASS-CAT≥7 points and Khorana≥2 points were independent risk factors for VTE in elderly patients with lung cancer( P<0.05). Conclusions:The modified Khorana model can predict the risk of VTE in elderly patients with lung cancer, but the accuracy of prediction is low.The COMPASS-CAT model has a higher predictive value for VTE risk assessment than the modified Khorana model and is more suitable for elderly patients with lung cancer.

14.
Chinese Journal of Orthopaedics ; (12): 97-102, 2020.
Article in Chinese | WPRIM | ID: wpr-799611

ABSTRACT

Objective@#To provide experimental evidence for genetic counseling and prenatal molecular diagnosis by analyzing the clinical characteristics and screening for pathogenic genes of a five-generation suspected multiple epiphyseal dysplasia (MED) family (17 patients).@*Methods@#The family members' medical history, general physical examination and hip joint X-ray examination were collected. Peripheral blood samples of the family members were collected and DNA were extracted from these samples. The exons of clinical genes from probands' DNA were sequenced by High throughput sequencing method. Next Gene software was used to compare and analyze the sequence and INGENUITY software was further used to annotate the mutations in order to find the pathogenic mutations in probands. The suspicious mutations were confirmed in pedigree members by PCR and Sanger sequencing.@*Results@#The family consisted of 5 generations and 38 members. Pedigree analysis was consistent with autosomal dominant inheritance. There were 17 patients in the family, and their clinical manifestations showed abnormal walking posture in childhood, pain in hip and knee joints, and typical pathological changes of epiphyseal dysplasia on X-ray. Cartilage oligomeric matrix protein (COMP) gene c.1153G>A (p.Asp385Asn) missense heterozygous mutation was screened in proband, which was genotypically and phenotypically segregated in the pedigree.@*Conclusion@#A missense mutation of the comp gene has been identified in a pedigree affected with MED which was the first reported in a big family. Our result is conducive to the further diagnosis and treatment and also provides a molecular basisfor the future prenatal diagnosis.

15.
Chinese Journal of Orthopaedics ; (12): 97-102, 2020.
Article in Chinese | WPRIM | ID: wpr-868951

ABSTRACT

Objective To provide experimental evidence for genetic counseling and prenatal molecular diagnosis by analyzing the clinical characteristics and screening for pathogenic genes of a five-generation suspected multiple epiphyseal dysplasia (MED) family (17 patients).Methods The family members' medical history,general physical examination and hip joint X-ray examination were collected.Peripheral blood samples of the family members were collected and DNA were extracted from these samples.The exons of clinical genes from probands' DNA were sequenced by High throughput sequencing method.Next Gene software was used to compare and analyze the sequence and INGENUITY software was further used to annotate the mutations in order to find the pathogenic mutations in probands.The suspicious mutations were confirmed in pedigree members by PCR and Sanger sequencing.Results The family consisted of 5 generations and 38 members.Pedigree analysis was consistent with autosomal dominant inheritance.There were 17 patients in the family,and their clinical manifestations showed abnormal walking posture in childhood,pain in hip and knee joints,and typical pathological changes of epiphyseal dysplasia on X-ray.Cartilage oligomeric matrix protein (COMP) gene c.1153G > A (p.Asp385Asn) missense heterozygous mutation was screened in proband,which was genotypically and phenotypically segregated in the pedigree.Conclusion A missense mutation of the comp gene has been identified in a pedigree affected with MED which was the first reported in a big family.Our result is conducive to the further diagnosis and treatment and also provides a molecular basisfor the future prenatal diagnosis.

16.
Article in Chinese | WPRIM | ID: wpr-868581

ABSTRACT

Objective To investigate the effect and underlying mechanism of lncRNA MEG3 on the radiosensitivity of nasopharyngeal carcinoma cells.Methods this experiment,overexpression control group,MEG3 overexpression group,miR-NC inhibition group,miR-7-5p inhibition group,overexpression control+4 Gy group,MEG3 overexpression+4 Gygroup,miR-NC inhibition+4 Gy group,miR-7-5p inhibition+4 Gy group,MEG3 overexpression + miR-NC overexpression group,MEG3 overexpression + miR-7-Sp overexpression group were established.The expression of miR-7-5p and MEG3 was detected by qRT-PCR.The radiosensitivity of nasopharyngeal carcinoma cells was measured by clone formation assay.Cell apoptosis was assessed by flow cytometry.The fluorescence activity was evaluated by dual luciferase reporter assay.Results MEG3 was lowly expressed in nasopharyngeal carcinoma tissues and cells.Overexpression of MEG3 and inhibition of miR-7-5p expression increased the radiosensitivity of nasopharyngeal carcinoma cells and promoted radiation-induced cell apoptosis.MEG3 could targetedly regulate the miR-7-5p expression.Overexpression of miR-7-5p reversed the effect of overexpression of MEG3 on the sensitization of nasopharyngeal carcinoma cells and the promotion of apoptosis induced by radiation exposure.Conclusions Overexpression of MEG3 increases the radiosensitivity of nasopharyngeal carcinoma cells and promotes radiation-induced cell apoptosis.The mechanism may be related to the down-regulation of miR-7-5p expression.

17.
Journal of Integrative Medicine ; (12): 319-325, 2020.
Article in English | WPRIM | ID: wpr-829096

ABSTRACT

OBJECTIVE@#Sorafenib has been extensively used for the treatment of advanced hepatocellular carcinoma (HCC), and Chinese herbal medicine has also been used to manage advanced HCC. The present work evaluates the effectiveness and safety of Jiedu (JD) Granule, a compound of traditional Chinese herbal medicine, side-by-side with sorafenib for the treatment of advance HCC.@*METHODS@#Patients with advanced HCC receiving treatment with JD Granule or sorafenib were enrolled from December 2014 to March 2018. The primary endpoint was overall survival (OS). The secondary endpoints were progression-free survival (PFS) and safety. Propensity score matching (PSM) analysis was used to control for possible selection bias from the study group allocation process.@*RESULTS@#Of the 325 patients included, 161 received JD Granule and 164 received sorafenib. No significant differences were found in OS or PFS among patients receiving JD Granule compared to sorafenib (P > 0.05). Median OS of the two study groups was 6.83 months (95% confidence interval [CI]: 5.83-9.47) in the group receiving JD Granule and 8 months (95% CI: 6.67-9.80) in the group receiving sorafenib, with half-, 1- and 2-year survival rates of 53.6%, 31.2% and 13.2% vs 60.1%, 35.5% and 14.2%, respectively. Even after PSM, the median survival time did not differ between the JD Granule group (9.03 months; 95% CI: 6.37-14.2) and the sorafenib group (7.93 months; 95% CI: 6.5-9.97), with comparable half-, 1- and 2-year survival rates. The most common adverse events (AEs) were diarrhea (13.7%) and fatigue (5.6%) in the JD Granule group, and hand-foot skin reaction (46.3%) and diarrhea (36.6%) in the sorafenib group. The JD Granule was more cost-effective than sorafenib treatment for advanced HCC.@*CONCLUSION@#Compared to sorafenib, JD Granule was more cost-effective and caused fewer AEs for the treatment of Chinese patients with advanced HCC.

18.
Article in Chinese | WPRIM | ID: wpr-828938

ABSTRACT

OBJECTIVE@#To investigate the differential expression of miR-30a-5p in patients with poststroke depression and explore the possible mechanism.@*METHODS@#We obtained the target microRNAs through searching PubMed using the online software VENNY2.1. We collected the baseline demographic, clinical and radiographic data from consecutive patients with first-ever acute ischemic stroke on admission in our department from October, 2018 to March, 2019. From each patient, 5 mL peripheral venous blood was collected upon admission. Hamilton Depression Scale (HAMD-17) was used to evaluate the degree of depression at the end of the 3-month follow-up. The patients with a HAMD-17 score≥7 were diagnosed to have depression according to the diagnostic criteria of the Fourth Edition of the Diagnostic and Statistical Manual of Mental Disorders of the American Psychiatric Association (DSM-IV). The patients were divided into post-stroke depression group (PSD group, =11) and non-post-stroke depression group (non-PSD group, =25), and their plasma levels of miR-30a-5p were detected using qPCR. The STARBASE Database ENCORI miRNA-mRNA module and Comparative Toxicogenomics Database were used to predict and screen the possible target genes related to miR-30a-5p, and the possible mechanism of the target genes was further analyzed through bioinformatics.@*RESULTS@#miR-30a-5p was identified by cross-screening as the target miRNA associated with stroke and depression and showed obvious differential expression between PSD and non-PSD patients (2.462±0.326 1±0.126, < 0.0001). ROC curve analysis showed that the AUC of miR-30a-5p for predicting PSD was 0.869 (95%: 0.745-0.993, =0.0005) at the cutoff value of 1.597, with a sensitivity and specificity of 0.727 and 0.840, respectively. The target proteins of miR-30a-5p involved a wide range of biological processes, including signal transduction, intercellular communication, regulation of nucleobase, nucleoside, nucleotide and nucleic acid metabolism. KEGG pathway enrichment analysis showed that the target proteins affected mainly the neural nutrient signaling pathway, axon guidance signaling pathway and insulin signaling system. We also identified the top 20 HUB genes that might be associated with post-stroke depression.@*CONCLUSIONS@#Plasma miR-30a-5p is differentially expressed in PSD and can serve as a new blood marker for diagnosis and also a therapeutic target of PSD.


Subject(s)
Brain Ischemia , Computational Biology , Depression , Gene Expression Regulation, Neoplastic , Humans , MicroRNAs , Stroke
19.
Article in Chinese | WPRIM | ID: wpr-828519

ABSTRACT

OBJECTIVE@#To investigate the differential expression of miR-30a-5p in patients with poststroke depression and explore the possible mechanism.@*METHODS@#We obtained the target microRNAs through searching PubMed using the online software VENNY2.1. We collected the baseline demographic, clinical and radiographic data from consecutive patients with first-ever acute ischemic stroke on admission in our department from October, 2018 to March, 2019. From each patient, 5 mL peripheral venous blood was collected upon admission. Hamilton Depression Scale (HAMD-17) was used to evaluate the degree of depression at the end of the 3-month follow-up. The patients with a HAMD-17 score≥7 were diagnosed to have depression according to the diagnostic criteria of the Fourth Edition of the Diagnostic and Statistical Manual of Mental Disorders of the American Psychiatric Association (DSM-IV). The patients were divided into post-stroke depression group (PSD group, =11) and non-post-stroke depression group (non-PSD group, =25), and their plasma levels of miR-30a-5p were detected using qPCR. The STARBASE Database ENCORI miRNA-mRNA module and Comparative Toxicogenomics Database were used to predict and screen the possible target genes related to miR-30a-5p, and the possible mechanism of the target genes was further analyzed through bioinformatics.@*RESULTS@#miR-30a-5p was identified by cross-screening as the target miRNA associated with stroke and depression and showed obvious differential expression between PSD and non-PSD patients (2.462±0.326 1±0.126, < 0.0001). ROC curve analysis showed that the AUC of miR-30a-5p for predicting PSD was 0.869 (95%: 0.745-0.993, =0.0005) at the cutoff value of 1.597, with a sensitivity and specificity of 0.727 and 0.840, respectively. The target proteins of miR-30a-5p involved a wide range of biological processes, including signal transduction, intercellular communication, regulation of nucleobase, nucleoside, nucleotide and nucleic acid metabolism. KEGG pathway enrichment analysis showed that the target proteins affected mainly the neural nutrient signaling pathway, axon guidance signaling pathway and insulin signaling system. We also identified the top 20 HUB genes that might be associated with post-stroke depression.@*CONCLUSIONS@#Plasma miR-30a-5p is differentially expressed in PSD and can serve as a new blood marker for diagnosis and also a therapeutic target of PSD.


Subject(s)
Brain Ischemia , Computational Biology , Depression , Genetics , Gene Expression Regulation, Neoplastic , Humans , MicroRNAs , Genetics , Stroke
20.
Article in Chinese | WPRIM | ID: wpr-828076

ABSTRACT

Aceria pallida is one of the most common pests in the main production areas of Lycium barbarum in China. The mite mainly feeds on foliage, leading to local tissue deformation and formation of massive galls, which seriously affects the growth and yield of L. barbarum. However, little is known about the influence of galling organisms on plant primary and secondary metabolism. In order to compare the metabolites differences between healthy and the mite infested leaves of wolfberry, and provide a scientific basis for the development and utilization of the galled leaves, L. barbarum seedlings were infested with A. pallida artificially in the laboratory, the metabolites of L. barbarum leaves were determined by LC-MS/MS. Our results showed that the leaves were rich in amino acids and flavonoid compounds. A total of 204 compounds from 16 classes were detected in L. barbarum leaves based on LC-MS/MS. The primary metabolites are mainly amino acids, and the secondary metabolites are mainly organic acids and flavonoids. The content of the metabolite in the leaves of L. barbarum was significantly affected by the mite, 30 metabolites such as flavonoids and phenylpropanoids were significantly changed, 21 metabolites were up-regulated and 9 metabolites were down-regulated significantly. There were 8 compounds which has pharmacological and biological activity, such as eriodictyol, isorhamnetin-3-O-neohesperidoside and scopoletin up-regulated significantly. Based on the above findings, we suggest that the galled leaves of L.barbarum have a potential to be developed in the future.


Subject(s)
China , Chromatography, Liquid , Lycium , Metabolomics , Plant Leaves , Tandem Mass Spectrometry
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