Objective:To explore the role of the expression of peroxisome proliferator-activated receptor β/δ(PPARβ/δ)in the anti-inflammatory mechanism of acupuncture(AC)against cerebral ischemia-reperfusion injury(CIRI)in rat hippocampal tissue.Methods:A total of 60 SD rats were randomly divided into Sham group,CIRI group,CIRI+AC group and CIRI+AC+PPARβ/δsiRNA group.The CIRI rat model was prepared by the method of middle cerebral artery occlusion,and acupuncture treatment was used for intervention.The neurological function of rats was assessed by the modified neurological severity score(mNSS)method after 72 hours of intervention.The brain in-farction volume ratio was observed by 2,3,5-triphenyltetrazolium chloride(TTC)staining method.The pathological morphological changes of brain tissue were observed by hematoxylin-eosin(HE)staining.The expression levels of PPARβ/δ,IL-1β,and IL-10 mRNA in the hippocampal region were detected by RT-qPCR.Results:Compared with the Sham group,the mNSS scores and the brain infarction volume ratio in all modeling groups were significantly in-creased.Compared with the CIRI group,the mNSS scores and the brain infarction volume ratio in the CIRI+AC group were significantly reduced.The expression levels of PPARβ/δ and IL-10 in the hippocampus were significantly upregu-lated,while the expression level of IL-1β was significantly downregulated(P<0.01),with scattered inflammatory cell infiltration observed.Compared with the CIRI+AC group,there was no significant difference in the mNSS scores and the brain infarction volume ratio in the CIRI+AC+PPARβ/δsiRNA group.The expression level of PPARβ/δ in the hippocampus was significantly downregulated(P<0.01),while no significant difference was found in the expression level of IL-10 and IL-1β mRNA,with a small amount of inflammatory cell infiltration observed.Conclusion:Acupunc-ture ameliorates the recovery of neurological function and the ratio of cerebral infarction volume in rats with CIRI,and its mechanism may be associated with the upregulation of PPARβ/δ expression,thereby reducing inflammatory respon-ses and exerting neuroprotective effects.

Objective:To investigate the effects of acupuncture intervention on the expression of circRNA_017109 and miR-138-5p in the hippocampal region of rats with cerebral ischemia-reperfusion injury(CIRI),and to explore the potential mechanism of acupuncture in treating CIRI.Methods:Forty-five Sprague-Dawley(SD)rats were divided into sham group,middle cerebral artery occlusion/reperfusion(MCAO/R)group,and acupuncture(MCAO/R+AC)group.The MCAO/R and MCAO/R+AC groups were subjected to the modified Longa suture method to establish the MCAO/R model.The MCAO/R+AC group received acupuncture at the"Dazhui","Renzhong",and"Baihui"acu-points.Neurological impairment was assessed via the modified neurological severity score(mNSS).while cerebral infarct volume was assessed through TTC staining.Histological alterations in brain tissue were examined via HE stai-ning,and the expression of circRNA_017109 and miR-138-5p in the hippocampal area were determined using RT-qPCR.Results:The mNSS scores and cerebral infarct volume ratios in the model groups were markedly higher than those in the sham group(P<0.01),but these were significantly reduced in MCAO/R+AC group compared to the MCAO/R group(P<0.01).HE staining showed severe necrosis and inflammation in the MCAO/R group's hippocam-pus,while the MCAO/R+AC group had minimal necrosis and scattered inflammation.RT-qPCR results indicated that the expression of circRNA_017109 and miR-138-5p was downregulated in the MCAO/R group,while MCAO/R+AC group upregulated the expression of circRNA_017109 and miR-138-5p(P<0.05,P<0.01).Conclusion:Acupunc-ture can improve neurological deficits,reduce cerebral infarction volume,and alleviate inflammatory cell infiltration in CIRI rats by upregulating the expression of circRNA_017109 and miR-138-5p,thereby exerting neuroprotective effects.

Objective:To explore the role of the expression of peroxisome proliferator-activated receptor β/δ(PPARβ/δ)in the anti-inflammatory mechanism of acupuncture(AC)against cerebral ischemia-reperfusion injury(CIRI)in rat hippocampal tissue.Methods:A total of 60 SD rats were randomly divided into Sham group,CIRI group,CIRI+AC group and CIRI+AC+PPARβ/δsiRNA group.The CIRI rat model was prepared by the method of middle cerebral artery occlusion,and acupuncture treatment was used for intervention.The neurological function of rats was assessed by the modified neurological severity score(mNSS)method after 72 hours of intervention.The brain in-farction volume ratio was observed by 2,3,5-triphenyltetrazolium chloride(TTC)staining method.The pathological morphological changes of brain tissue were observed by hematoxylin-eosin(HE)staining.The expression levels of PPARβ/δ,IL-1β,and IL-10 mRNA in the hippocampal region were detected by RT-qPCR.Results:Compared with the Sham group,the mNSS scores and the brain infarction volume ratio in all modeling groups were significantly in-creased.Compared with the CIRI group,the mNSS scores and the brain infarction volume ratio in the CIRI+AC group were significantly reduced.The expression levels of PPARβ/δ and IL-10 in the hippocampus were significantly upregu-lated,while the expression level of IL-1β was significantly downregulated(P<0.01),with scattered inflammatory cell infiltration observed.Compared with the CIRI+AC group,there was no significant difference in the mNSS scores and the brain infarction volume ratio in the CIRI+AC+PPARβ/δsiRNA group.The expression level of PPARβ/δ in the hippocampus was significantly downregulated(P<0.01),while no significant difference was found in the expression level of IL-10 and IL-1β mRNA,with a small amount of inflammatory cell infiltration observed.Conclusion:Acupunc-ture ameliorates the recovery of neurological function and the ratio of cerebral infarction volume in rats with CIRI,and its mechanism may be associated with the upregulation of PPARβ/δ expression,thereby reducing inflammatory respon-ses and exerting neuroprotective effects.

Objective:To investigate the effects of acupuncture intervention on the expression of circRNA_017109 and miR-138-5p in the hippocampal region of rats with cerebral ischemia-reperfusion injury(CIRI),and to explore the potential mechanism of acupuncture in treating CIRI.Methods:Forty-five Sprague-Dawley(SD)rats were divided into sham group,middle cerebral artery occlusion/reperfusion(MCAO/R)group,and acupuncture(MCAO/R+AC)group.The MCAO/R and MCAO/R+AC groups were subjected to the modified Longa suture method to establish the MCAO/R model.The MCAO/R+AC group received acupuncture at the"Dazhui","Renzhong",and"Baihui"acu-points.Neurological impairment was assessed via the modified neurological severity score(mNSS).while cerebral infarct volume was assessed through TTC staining.Histological alterations in brain tissue were examined via HE stai-ning,and the expression of circRNA_017109 and miR-138-5p in the hippocampal area were determined using RT-qPCR.Results:The mNSS scores and cerebral infarct volume ratios in the model groups were markedly higher than those in the sham group(P<0.01),but these were significantly reduced in MCAO/R+AC group compared to the MCAO/R group(P<0.01).HE staining showed severe necrosis and inflammation in the MCAO/R group's hippocam-pus,while the MCAO/R+AC group had minimal necrosis and scattered inflammation.RT-qPCR results indicated that the expression of circRNA_017109 and miR-138-5p was downregulated in the MCAO/R group,while MCAO/R+AC group upregulated the expression of circRNA_017109 and miR-138-5p(P<0.05,P<0.01).Conclusion:Acupunc-ture can improve neurological deficits,reduce cerebral infarction volume,and alleviate inflammatory cell infiltration in CIRI rats by upregulating the expression of circRNA_017109 and miR-138-5p,thereby exerting neuroprotective effects.

[Abasract]Objective:To study the effect of acupuncture on miR-301a-5p expression in the hippocampal tissue of the ischemic side of rats by preparing a rat cerebral ischemia/reperfusion injury(CIRI)rat model.Methods:The mid-dle cerebral artery occlusion/reperfusion(MCAO/R)rat model was established using the thread embolism method and treated with acupuncture as an intervention.The modified Garcia score was used to access neurologic function in rats,and TTC staining was used to measure cerebral infarct volume ratio.RT-qPCR was utilized to detect the expression of miR-301a-5p in the hippocampal region on the ischemic side.The target genes of miR-301a-5p were predicted using online databases such as TargetScan8.0,mi-RDB,and miRWalk.Gene Ontology(GO)analysis of the target genes was conducted via the DAVID database.Additionally,pathological changes in cells were observed using HE staining.Results:Compared with MCAO/R group,Garcia score of rats in MCAO/R+AC group was increased(P＜0.05),and the infarct volume decreased(P＜0.01).The expression of miR-301 a-5p in the ischemic hippocampus was significant-ly increased(P＜0.01).Online database identified 101 intersecting target genes of miR-301a-5p.GO analysis in Biological Processes(BP)revealed that miR-301a-5p target genes were enriched in inflammatory factors,including interleukin-6(IL-6)regulation and glucocorticoid response.In the MCAO/R group,cell necrosis and inflammatory cell infiltration were observed,while scattered inflammatory cell infiltration was noted in the MCAO/R+AC group.Conclusion:Acupuncture alleviates neurological deficit symptoms and decreases cerebral infarction volume in CIRI rats,and the mechanism may be related to the activation of miR-301a-5p expression to suppress cellular inflammation.

[Abasract]Objective:To study the effect of acupuncture on miR-301a-5p expression in the hippocampal tissue of the ischemic side of rats by preparing a rat cerebral ischemia/reperfusion injury(CIRI)rat model.Methods:The mid-dle cerebral artery occlusion/reperfusion(MCAO/R)rat model was established using the thread embolism method and treated with acupuncture as an intervention.The modified Garcia score was used to access neurologic function in rats,and TTC staining was used to measure cerebral infarct volume ratio.RT-qPCR was utilized to detect the expression of miR-301a-5p in the hippocampal region on the ischemic side.The target genes of miR-301a-5p were predicted using online databases such as TargetScan8.0,mi-RDB,and miRWalk.Gene Ontology(GO)analysis of the target genes was conducted via the DAVID database.Additionally,pathological changes in cells were observed using HE staining.Results:Compared with MCAO/R group,Garcia score of rats in MCAO/R+AC group was increased(P＜0.05),and the infarct volume decreased(P＜0.01).The expression of miR-301 a-5p in the ischemic hippocampus was significant-ly increased(P＜0.01).Online database identified 101 intersecting target genes of miR-301a-5p.GO analysis in Biological Processes(BP)revealed that miR-301a-5p target genes were enriched in inflammatory factors,including interleukin-6(IL-6)regulation and glucocorticoid response.In the MCAO/R group,cell necrosis and inflammatory cell infiltration were observed,while scattered inflammatory cell infiltration was noted in the MCAO/R+AC group.Conclusion:Acupuncture alleviates neurological deficit symptoms and decreases cerebral infarction volume in CIRI rats,and the mechanism may be related to the activation of miR-301a-5p expression to suppress cellular inflammation.

Objective:To observe the effects of acupuncture on the expression of circRNA_011989 and circRNA_009775 in the hippocampal tissue of cerebral ischemia/reperfusion injury(CIRI)rats.Methods:CIRI model rats were prepared by the thread bolus method and treated by means of acupuncture(AC).The Garcia score was used to assess the neurological function.TTC staining was used to detect the volume ratio of cerebral infarction.The target prediction website was used to predict the miRNAs and corresponding mRNAs bound by circRNA_011989 and circRNA_009775,and Cytoscape was used to construct the circRNA-miRNA-mRNA co-expression network.The expression of circRNA_011989,circRNA_009775,miR-466b-5p,miR-3065-3p,Rims1,and Slc30a3 in the hippocampal region of the ische-mic side was detected by real time RT-PCR.Results:Compared with CIRI group,Garcia score of rats in CIRI+AC group was significantly increased(P＜0.01),and the infarct volume decreased.The expressions of circRNA_011989,circRNA_009775,Rims1,and Slc30a3 in right hippocampus were up-regulated(P＜0.05,P＜0.01),but the miR-466b-5p and miR-3065-3p were down-regulated(P＜0.05).Conclusion:Acupuncture may significantly ameliorate the neurological deficit symptoms in CIRI rats by upregulating the expression of circRNA_011989 and circRNA_009775,and the specific mechanism may be related to the activation of circRNA_011989/miR-466b-5p/Rim.s1 and circRNA_009775/miR-3065-3p/Slc30a3 axis related.

OBJECTIVE: To carry out genetic testing and prenatal diagnosis for a Chinese pedigree with Lesch-Nyhan syndrome (LNS) but no specimen from the affected probands. METHODS: All affected individuals in this pedigrees were male and had deceased during childhood, with no biological specimen left. Based on their typical neurological dysfunction and tendency for self-mutilation, the diagnosis of LNS was suspected. Sanger sequencing was carried out to detect potential variant of the HPRT1 gene among female members from the pedigree. Following the identification of the pathogenic variant, prenatal diagnosis was provided for a high-risk fetus. RESULTS: The proband's mother and three other females were found to harbor heterozygous c.500_501delGGinsC (p.Arg167fs*23) variant of the HPRT1 gene, which was unreported previously. Prenatal diagnosis showed that the fetus was a male and had inherited the same pathogenic variant. CONCLUSION The c.500_501delGGinsC variant of the HPRT1 gene probably underlay the LNS in this pedigree. Above finding has provided a basis for prenatal diagnosis and genetic counseling for this pedigree.
Male ; Female ; Humans ; Pregnancy ; Lesch-Nyhan Syndrome/genetics* ; Pedigree ; Hypoxanthine Phosphoribosyltransferase/genetics* ; Prenatal Diagnosis ; China ; Mutation

OBJECTIVE: To explore the genetic basis for a Chinese pedigree affected with autosomal dominant late-onset non-syndromic hearing loss (NSHL). METHODS: Clinical data of the pedigree were collected. Genomic DNA was extracted from peripheral blood samples of the proband and other family members. Trio whole exome sequencing was carried out for 19 396 genes to identify potential pathogenic variants. Sanger sequencing was carried out to verify the candidate variant in the pedigree. RESULTS: The proband and his father were found to carry a c.1183+1delG p.? variant of the DFNA5 gene. The variant was confirmed to be co-segregating with the disease phenotype in the pedigree. CONCLUSION The c.1183+1delG p.? variant of the DFNA5 gene probably underlay the late onset NSHL in this pedigree. Above finding has enabled accurate genetic counseling for this pedigree.
Age of Onset ; China ; Hearing Loss, Sensorineural/genetics* ; Humans ; Male ; Mutation ; Pedigree ; Receptors, Estrogen/genetics*

Objective:To assess the clinical value of quantitative fluorescent polymerase chain reaction(QF-PCR) in rapid prenatal diagnosis.Methods:From May 2018 to May 2019, 1 190 amniotic fluid samples were detected by QF-PCR to check out aneuploidies of 13, 18, 21, X and Y, then the results were compared with those of traditional karyotype analysis.Results:The 33 abnormities including 20 cases with trisomy 21, 4 cases with trisomy 18 and 9 abnormities of sex chromosomes were checked out in 1190 amniotic fluid samples by rapid diagnosis.Conclusion:As a common rapid diagnostic method, QF-PCR has advantages of rapid and accurate, but still cannot completely replace the conventional karyotype analysis.