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1.
Article in English | WPRIM | ID: wpr-968548

ABSTRACT

A growing number of neuroimaging studies have revealed abnormal brain structural and functional alterations in subjects with internet addiction (IA), however, with conflicting conclusions. We plan to conduct a systematic review and meta-analysis on the studies of voxelbased morphometry (VBM) and resting-state functional connectivity (rsFC), to reach a consolidated conclusion and point out the future direction in this field. A comprehensive search of rsFC and VBM studies of IA will be conducted in the PubMed, Cochrane Library, and Web of Science databases to retrieve studies published from the inception dates to August 2021. If the extracted data are feasible, activation likelihood estimation and seed-based d mapping methods will be used to meta-analyze the brain structural and functional changes in IA patients. This study will hopefully reach a consolidated conclusion on the impact of IA on human brain or point out the future direction in this field.

2.
Chinese Acupuncture & Moxibustion ; (12): 1076-1080, 2023.
Article in Chinese | WPRIM | ID: wpr-1007445

ABSTRACT

Renying and Cunkou pulse diagnostic method is one of the important parts of the pulse diagnosis in Huangdi Neijing (Inner Canon of Yellow Emperor) and has been controversial since its proposal. This article takes WANG Shu-he's diagnostic operation as the evidence, and is in reference of the statement, "Cun region (the region ahead of Guan region of Cunkou) determines the human life, that on the left hand refers to Renying, while on the right hand is Qikou". The pulse conditions on the left and right hands represent yin and yang. If Renying pulse on the left is greater, the diseases are in yang meridians, while if Cunkou pulse on the right is bustling, the diseases are in yin meridians. By comparing the pulse condition and strength, as well as the pulse beating (rapid and urgent) between Guan region and region ahead of Guan on the same side, the conditions of three yang and three yin meridians are detected. In treatment, based on the records of Renying and Cunkou pulse diagnosis in Huangdi Neijing, the principles are proposed for reinforcing and reducing methods on hand and foot meridians of yin and yang. Five-shu points and yuan-source points are taken as the main acupoints in acupuncture treatment. During treatment, the changes in pulse conditions should be emphasized specifically and those at Renying and Cunkou regions are the criteria for judging qi arrival and qi regulation.


Subject(s)
Humans , Acupuncture Points , Acupuncture Therapy , Foot , Hand , Heart Rate
3.
Article in English | WPRIM | ID: wpr-1010701

ABSTRACT

Hereditary gingival fibromatosis (HGF) is a rare inherited condition with fibromatoid hyperplasia of the gingival tissue that exhibits great genetic heterogeneity. Five distinct loci related to non-syndromic HGF have been identified; however, only two disease-causing genes, SOS1 and REST, inducing HGF have been identified at two loci, GINGF1 and GINGF5, respectively. Here, based on a family pedigree with 26 members, including nine patients with HGF, we identified double heterozygous pathogenic mutations in the ZNF513 (c.C748T, p.R250W) and KIF3C (c.G1229A, p.R410H) genes within the GINGF3 locus related to HGF. Functional studies demonstrated that the ZNF513 p.R250W and KIF3C p.R410H variants significantly increased the expression of ZNF513 and KIF3C in vitro and in vivo. ZNF513, a transcription factor, binds to KIF3C exon 1 and participates in the positive regulation of KIF3C expression in gingival fibroblasts. Furthermore, a knock-in mouse model confirmed that heterozygous or homozygous mutations within Zfp513 (p.R250W) or Kif3c (p.R412H) alone do not led to clear phenotypes with gingival fibromatosis, whereas the double mutations led to gingival hyperplasia phenotypes. In addition, we found that ZNF513 binds to the SOS1 promoter and plays an important positive role in regulating the expression of SOS1. Moreover, the KIF3C p.R410H mutation could activate the PI3K and KCNQ1 potassium channels. ZNF513 combined with KIF3C regulates gingival fibroblast proliferation, migration, and fibrosis response via the PI3K/AKT/mTOR and Ras/Raf/MEK/ERK pathways. In summary, these results demonstrate ZNF513 + KIF3C as an important genetic combination in HGF manifestation and suggest that ZNF513 mutation may be a major risk factor for HGF.


Subject(s)
Animals , Humans , Mice , Fibromatosis, Gingival/pathology , Gingiva , Kinesins/genetics , Mutation/genetics , Phosphatidylinositol 3-Kinases/genetics
4.
Article in Chinese | WPRIM | ID: wpr-953953

ABSTRACT

Background Some studies have shown that PM2.5 exposure is closely related to central nervous system diseases that lead to cognitive dysfunction and change the composition of intestinal flora. However, there are few studies on the role of intestinal flora in PM2.5-induced depression- and anxiety-like behaviors in mice. Objective To observe the effects of PM2.5 exposure on depression- and anxiety-like behaviors and the composition of intestinal flora in mice, and to explore the role of intestinal flora in regulating 5-hydroxytryptamine (5-HT) in depression- and anxiety-like behaviors in mice exposed to PM2.5. Methods Eight-week-old male SPF C57BL/6J mice were randomly divided into control group (NS group), probiotic group (LGG group), PM2.5 group (PM group), and combined exposure group (PML group), 6 mice in each group. Mice in the PM group and the PML group were exposed to PM2.5 in a dynamic exposure cabinet for 6 h per day, 6 d a week for 7 consecutive weeks, and the PM2.5 concentrations were approximately 8 times higher than the outdoor concentration. The LGG group and the PML group were orally administered with Lactobacillus rhamnosus while the NS group and the PM group were orally administered with the same amount of saline. Elevated plus maze test and open field test were used to detect depression and anxiety in mice. Fecal samples of mice were collected to evaluate intestinal flora abundance, diversity, and structure between groups using high-throughput sequencing of 16S rRNA. ELISA was employed to detect the levels of 5-HT in serum and hippocampus. Spearman correlation was used to analyze the correlations of differential intestinal flora with 5-HT level in hippocampus and depression- and anxiety-like behavior indicators in mice. Results The percentage of open-arm entry [M(P25, P75)] in the PM group was 0.0% (0.0%, 33.3%), lower than those in the NS group [47.7% (25.0%, 50.8%) ] and the PML group [46.9% (40.0%, 50.0%)], and the differences were statistically significant (P<0.05). The total travelled distance and the time spent in central area (\begin{document}$\bar x \pm s $\end{document}) in the PM group were (2.01±0.90) m and (10.31±1.99) s respectively, shorter than those of the NS group [(3.80±0.89) m, (14.47±3.07) s], the total travelled distance in the PML group [(2.73±1.12) m] was shorter than those of the NS group and the LGG group [(4.21±1.08) m], and the differences were statistically significant (P<0.05). Compared to the NS group, the Simpson index of the PM group significantly increased (P<0.05). Compared to the LGG group, the Simpson index of the PML group significantly decreased (P<0.05). The results of Beta diversity analysis showed that there were differences in the composition of intestinal flora among the four groups of mice. Compared with the NS group and the LGG group, the abundances of Erysipelotrichaceae and Dubosiella in the PM group and the PML group increased, while the abundances of Prevotellaceae_UCG-001 decreased, and the differences were statistically significant (P<0.05). In hippocampus, the level of 5-HT in the PM group [(135.02±10.31) μg·g−1] was lower than those in the NS group [(178.77±43.15) μg·g−1] and the LGG group [(224.85±22.98) μg·g−1], and the level of 5-HT in the PML group [(161.27±15.81) μg·g−1] was lower than that in the LGG group (P<0.05). 5-HT level in hippocampus was significantly positively correlated with the relative abundance of Prevotellaceae_UCG-001 (r=0.6090, P=0.012). The percentage of open-arm entry was significantly negatively correlated with the relative abundance of Dubosiella (r=−0.4630, P=0.023). Conclusion Atmospheric PM2.5 exposure may cause depression- and anxiety-like behaviors in mice. The observed behavior dysfunction may be associated with the changes in diversity and relative abundance of intestinal flora as well as the decrease of 5-HT level. Such depression- and anxiety-like behaviors are alleviated after adding probiotics.

5.
Article in Chinese | WPRIM | ID: wpr-1015780

ABSTRACT

AR (androgen receptor) and CCAT2 are two prostate cancer (PCa)-related genes whereas their relationship is not yet reported. AR is the classical major functional gene in PCa progression. CCAT2, a non-coding gene, was identified based on big-data GWAS (Genome-Wide Association Studies) in the year of 2013. Androgen deprivation therapy (ADT) is usually used to treat PCa in the early stage. After persistent androgen deprivation, PCa would generally lead to castration resistant prostate cancer (CRPC), whereas the mechanism is yet unclear. Here we explore the function of AR and CCAT2 in PCa progression, especially their relation in androgen sensitive and insensitive cell model LNCap and DU145. We found a loop between AR and CCAT2 transcription by over-expression and knock-down strategies. In DU145 cells, G-CCAT2 activated AR mRNA level 2. 6 times, while T-CCAT2 inhibited it to 0. 2 times (P<0. 05). In LNCaP cells, G-CCAT2 could activate AR mRNA levels 1. 5 times, and TCCAT2 had no significant effect (P<0. 05). Under overexpression of AR in DU145 cells, the expression of CCAT2 increased 2. 9 times (P < 0. 05). The abundance of CCAT2 decreased to 0. 48 (P < 0. 05) in LNCaP cells by AR knock-down. Reporter gene analysis showed that CCAT2 could function on the AR promoter. We then performed CCK8 assays and AR protein level detection as supplement for the new gene CCAT2 studies. Finally we primarily studied some target genes that are related to AR and CCAT2 . The results showed that the G-CCAT2 transcript could activate AR expression in LNCap cells while UCCAT2 had no significant effect. In DU145 cells, G-CCAT2 exhibited a more relative stronger activation effect on AR, and U-CCAT2 could inhibit AR transcription. AR activates the transcriptional activity of CCAT2 in both cell lines, suggesting a feedback regulation between them. Our data showed that there would be a feedback loop between CCAT2 and AR, which may indicate a new method for PCa treatment.

6.
The Journal of Practical Medicine ; (24): 1691-1692,1697, 2018.
Article in Chinese | WPRIM | ID: wpr-697847

ABSTRACT

Objective To investigate the hematological characteristics of patients with light β- thalassae-mia and rapidly identify different mutational genotypes. Methods RBC、Hb、MCV、MCH、MCHC、RDW-CV and HbA2 were studied in the 646 patients,the differences between β0/βN and β +/βN mutations were also compared. Results Most of them were microcytic hypochromic anemia. The most common genotype were β654/βN(33%)、β41-42/βN(32.5%)、β17/βN(14.4%)、β - 28/βN(10%)respectively,β0/βN were relatively higher. The differences in RBC、MCV、MCH、RDW-CV and HbA2 were significant between β0/βN and β +/βN. Compared with β +/βN patients,the MCV and MCH of β0/βN were significantly reduced,RDW-CV and HbA2 were significantly higher. Conclusion Light β- thalassaemia with different genotypes has its own unique hematological features and can be quickly and ef-fectively identified. Clinical efficiency can be improved through hematological analysis.

7.
Article in Chinese | WPRIM | ID: wpr-237294

ABSTRACT

<p><b>OBJECTIVE</b>To analyze hematological characteristics of compound heterozygotes of Hb J-Bangkok and β-thalassemia, and to explore the influence of Hb J-Bangkok on the phenotype of β-thalassemia.</p><p><b>METHODS</b>Peripheral blood samples from a patient carrying Hb J-Bangkok and a β-thalassemia mutation, her family members and three sporadic Hb J-Bangkok carriers were collected. RBC analysis and hemoglobin electrophoresis were performed. Genotypes of α- and β-globin genes were analyzed.</p><p><b>RESULTS</b>The father of the proband and the three sporadic cases were single carriers of Hb J-Bangkok. All of them were asymptomatic and have normal hematological parameters except for an abnormal hemoglobin band detected on hemoglobin electrophoresis. The proband was a compound heterozygote for Hb J-Bangkok and β-thalassemia mutation IVS-Ⅱ-654. She presented typical β-thalassemia trait, featuring hypochromic microcytic anemia and increased Hb A₂ level. An abnormal hemoglobin band was also detected.</p><p><b>CONCLUSION</b>Carriers of Hb J-Bangkok alone are asymptomatic. Co-existence of Hb J-Bangkok and β-thalassemia may not aggravate the phenotype. Therefore, couples with one carrying Hb J-Bangkok and another carrying a β-thalassemia mutation do not require prenatal diagnosis.</p>


Subject(s)
Adult , Child , Female , Humans , Male , Middle Aged , Hemoglobin J , Genetics , Heterozygote , Phenotype , beta-Thalassemia , Genetics
8.
Chinese Journal of Hematology ; (12): 856-860, 2012.
Article in Chinese | WPRIM | ID: wpr-323474

ABSTRACT

<p><b>OBJECTIVE</b>To investigate the hematological characteristics of co-inheritance of α-thalassemia (α-thal) and β-thalassemia (β-thal) and to survey the incidence of co-inheritance of α-thal and β-thal in Guangxi.</p><p><b>METHODS</b>DNA samples from 370 primary and middle school students who were β-thal carriers in Guangxi were further processed for the α-goblin gene mutation screening, and were grouped based on the genotype of β- and α-goblin gene. The hematological indexes to the different groups were compared by One-way ANOVA.</p><p><b>RESULTS</b>Of the total 370 β-thal carriers, 79 were found to carry α-thal, which gave a frequency of 21.35% for β-thal carriers and 1.36% for coincidence of these two common disorders in the local population. As expected, the 79 patients presented very variable α-globin alterations in combination with β-globin mutations, showing 31 genotype combined with the coincidence of both Hb disorders. Except the genotypes of 3 β-thal heterozygotes combined with ααα(anti3.7) triplication and 2 β-thal carriers with IVS-II-654(C→T)/N combined-α(3.7)/αα presented the phenotype of thalassemia intermedia, and other 74 carriers with co-inheritance of α-thal and β-thal all presented the phenotype of β-thal trait. There were significant differences between β-thal heterozygotes and the carriers with a co-inheritance of both β+α(0) thal in MCH, MCV and Hb. In addition, there existed significant difference between the carriers with a co-inheritance of both β+α(+) thal and a co-inheritance of both β+α(0) thal in MCV, MCH and Hb.</p><p><b>CONCLUSION</b>Compared to that of β-thal heterozygotes, the carriers with a co-inheritance of α-thal and β-thal had slighter phenotype with hematological characteristics. It's difficult to distinguish the double heterozygotes with the co-inheritance of α-thal and β-thal from β-thal heterozygotes by hematological indexes, the molecular diagnosis should be performed.</p>


Subject(s)
Child , Female , Humans , Male , China , Epidemiology , Gene Frequency , Genotype , Incidence , alpha-Thalassemia , Blood , Epidemiology , Genetics , beta-Thalassemia , Blood , Epidemiology , Genetics
9.
Article in Chinese | WPRIM | ID: wpr-424559

ABSTRACT

ObjectiveTo report the results of preventive control program of severe thalassemias in Zhuhai City of Guangdong Province from 1998 to 2010.MethodsAs the guide centre of marriage and childbearing and the greatest maternity hospital in Zhuhai City of Guangdong Province,Zhuhai Municipal Maternity and Child Healthcare Hospital constructed the genetic screening network for thalassemias testing and referred for follow-up and for genetic counseling.The couples for premarital medical examination or regular healthcare examination in pregnancy were enrolled to this preventive control program.A conventional strategy of screening for heterozygote was used to identify the α- and β-thalassemia traits in women and their spouses according to the standard procedures of hematological phenotype analysis which was recommended by Thalassemia International Federation (T IF).Then those suspected couples at risk were diagnosed for α- and β-thalassemia by PCR-based DNA assays.The couples at risk for severe thalassemias were counseled and offered prenatal diagnosis and termination of pregnancy in case of an affected fetus in the rights of consent and of option voluntarily.ResultsFrom January 1998 to December 2010,85 522 brides and grooms-to-be for premarital screening and 41 503 pregnant women in addition to 14 141 partners for prenatal screening were recorded,the covering rates of premarital screening and prenatal screening in the city were 92.698% (from 1998 to 2003) and 27.667% (from 2004 to 2010),respectively.Totally 10 726 cases were found to be the carriers of thalassemias,with 7393 for o-thalassemia (5.237%,7 393/141 166) and 3333 for β-thalassemia (2.361%,3 333/141 166).A total of 257 couples at-risk for severe thalassemias were detected including 190 for α-thalassemia and 67 for β-thalassemia.Among them,251 (97.7%,251/257) couples were performed prenatal diagnosis.During the preventive control program,a total of 72 fetuses with severe thalassemias including hemoglobin H disease were voluntarily terminated.In Zhuhai City,the average annual birth rate of fetuses with severe thalassemia was declined by 32.9% (49/149).ConclusionsThis study has reduced effectively birth rate of perinatal infants with severe thalassemias in Zhuhai City by genetic screening and prenatal diagnosis of thalassemia in the large population of 13 years.Our summary comes out of technical proposals for prenatal screening and diagnosis,which could be take example by preventative control of thalassemia in other regions of China where are prevalent.

10.
Article in Chinese | WPRIM | ID: wpr-416034

ABSTRACT

Objective To investigate the MRI appearances of postpartum posterior reversible encephalopathy syndrome (PRES). Methods The clinical and radiological data of 8 patients with postpartum PRES were analyzed retrospectively, 5 cases were 1 week after postpartum,2 cases were 2 weeks afterpostpartum, 1 case was 4 weeks after postpartum. All cases underwent MRI examination, checking sequence included T,WI,T2WI,FLAIR,DWI,SWI, and 4 of them underwent MR venography (MRV). Results MRI showed basal bilaterally symmetrical distributions of lesions, mainly located in subcortex and cortex of cerebral hemisphere and predominantly in the occipital lobe,the lesions appeared as hyperintensity on FLAIR and T2WI,isointensity or mildly hypointensity on T1WI,hyperintensity on DWI. MRI in 8 patients demonstrated multiple lesions located in bilateral parietal lobe (8 cases),bilateral occipital lobe (8 cases), bilateral frontal lobe ( 4 cases ), bilateral temporal lobe (6 cases ), bilateral tempura-occipital lobe ( 8 cases),splenium of corpus callosum(l case), bilateral basal ganglia (l case), bilateral oval center( 1 case), bilateral cerebellar hemisphere (1 case), left frontal lobe hemorrhage (l case). Five patients' follow-up scan showed decreased or disappeared abnormal signals. Conclusion MRI examination scan identify the location, quality and degree, meanwhile, analyze the pathological foundation of postpartum PRES, which conduces to guiding treatment and preventing complication.

11.
Article in Chinese | WPRIM | ID: wpr-234388

ABSTRACT

<p><b>OBJECTIVE</b>To measure the feasibility of application of comparative genomic hybridization technique in the prenatal diagnosis of fetus with mandibulofacial dysostosis.</p><p><b>METHODS</b>A pregnant woman having a fetus with mandibulofacial dysostosis diagnosed by prenatal ultrasound test was selected. The amniotic fluid and blood of the pregnant and blood of her husband were collected and conventional cytogenetic analysis was performed. The whole genome was scanned by array comparative genomic hybridization assay (array-CGH). Reverse transcription fluorescence quantitative PCR (RT-qPCR) analysis was used to verify the result of array-CGH.</p><p><b>RESULTS</b>No abnormality was found in conventional cytogenetic analysis while a duplicated region in 1p36.33 was detected by array-CGH assay. The region spans 722 kb and contains two genes, VWA1 and PYGO2, which play roles in the development of cartilage. The result of array-CGH was confirmed by the RT-qPCR assay. The diagnosis of mandibulofacial dysostosis was confirmed after birth.</p><p><b>CONCLUSION</b>Author diagnosed a fetus with mandibulofacial dysostosis by array-CGH assay and found two candidate genes related to the development of craniofacial bone: VWA1 and PYGO2.</p>


Subject(s)
Adult , Female , Humans , Pregnancy , Chromosome Aberrations , Comparative Genomic Hybridization , Methods , Fetus , Pathology , Karyotyping , Methods , Mandibulofacial Dysostosis , Genetics , Prenatal Diagnosis , Methods
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