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Objective To investigate the efficacy of Amplatzer duct occluder-Ⅱ device(ADO-Ⅱ)in treating ventricular septal detect(VSD)with aortic sinus prolapse(ASP)in child patients.Methods The clinical data of 94 child patients with VSD complicated by ASP,who were admitted to the Hunan Provincial Children's Hospital of China between January 2018 and September 2022,were retrospectively collected.The child patients included 60 males and 34 females with a mean age of(4.7±3.1)years.Mild-moderate ASP was seen in 83 child patients,with a mean(4.12±0.97)mm-sized VSD.Severe ASP was seen in 11 child patients,with a mean(4.95±0.51)mm-sized VSD.Perimembrane VSD was observed in 54 child patients and intracristal VSD in 40 child patients.The relationship of VSD size and degree of ASP to the selection of ADO-Ⅱ,postoperative middle period aortic valve regurgitation and residual leakage was analyzed,so as to clarify the applicability of ADO-Ⅱ to such child patients.Results In the postoperative middle period,6 child patients had mild aortic valve regurgitation,most seen in the child patients who received 4-4 mm or 5-4 mm ADO-occluder;and 10 child patients had residual leakage,mainly seen in the child patients who received 5-4 mm or 6-4 mm occluder.Conclusion In the condition when the ADO-Ⅱ occluder shows satisfactory placement pattern,this treatment is suitable for the child patient having<6 mm VSD with ASP.Although there are some residual leakage and aortic valve regurgitation after surgery,this interventional therapy still meets the clinical requirements.(J Intervent Radiol,2024,32:17-21)
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Aim To explore the molecular mechanism of Selaginella moelledorffii Hieron. in the treatment of laryngeal cancer. Methods According to the relevant literature reports, the chemical constituents of S. moellendorffii were obtained, and the active ingredients were screened out through the SwissADME database, and the targets were screened through the PharmMapper database. The laryngeal cancer-related targets were collected by searching OMIM and other databases, and the Venny 2.1.0 online platform was used to obtain the intersection of the two. Protein interaction analysis of the potential targets was performed using the STRNG platform. GO functional analysis and KEGG pathway analysis was carried out using DAVID database. Visual networks were built with Cytoscape 3.8.0 software. Molecular docking was validated by SYBYL-X 2. 0 software. MTT method, Hoechst 33258 staining method and Western blotting were also used for validation. Results At the molecular level, a total of 110 active ingredients of S. moellendorffii and 82 drug targets were screened out, 1,608 targets related to laryngeal cancer, and intersection of 34 targets. GO analysis yielded 135 entries, and KEGG analysis yielded a total of 61 pathways. Molecular docking results showed that the 11 key active ingredients such as 2", 3"-dihydrooch-naflavone wood flavonoids and 4 core target proteins such as MAPK1 had 95. 5% of good docking activity. At the cellular level, SM-BFRE was screened for its strongest inhibitory effect on laryngeal cancer cell proliferation through MTT assay. Furthermore, Hoechst 33258 staining showed that the decrease in Hep-2 cell viability produced by SM-BFRE was related to cell apoptosis. Finally, Western blot verified that SM-BFRE inhibited PI3K/Akt/NF through inhibition- K B/COX-2 pathway to induce apoptosis in laryngeal cancer cells. Conclusions To sum up, it fully reflects the multicomponent, multi-target, and multi-channel synergistic effect of S. moellendorffii in the treatment of laryngeal cancer, and provides a theoretical reference for further elucidation of the mechanism of action of S. moellendorffii in the treatment of laryngeal cancer.
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Objective@#The association between school bullying and attention deficit hyperactivity disorder (ADHD) symptoms among students in primary schools and the moderating role of gender was explored to provide scientific evidence for the prevention and control of school bullying.@*Methods@#A total of 4 764 students from 2 primary schools in Wuhan were selected using the convenience sampling method in March 2023. The Olweus Bully/Victim Questionnaire and Strengths and Difficulties Questionnaire were used. A Pearson χ 2 test was used to compare differences in school bullying rates among children with and without ADHD symptoms. Pearson correlation analysis and Process 3.3 were used to analyse the association between ADHD symptoms, and school bullying behaviour and the moderating role of gender.@*Results@#The reported rate of bullying victims in primary schools was 24.2% and the rate of bullying perpetration was 3.8%. The rate of ADHD symptom detection among primary school students was 5.9%. ADHD symptoms were positively associated with bullying and bullying victim behaviour ( r =0.16, 0.27, P <0.01). Specifically, the association between ADHD symptoms and bullying behavior tended to be stronger among boys than girls ( β boy =0.17, t =11.13; β girl =0.07, t =4.11, P <0.01).@*Conclusions@#ADHD symptoms are an important factor influencing school bullying behaviors in students, and gender moderates the association. In the process of preventing and controlling school bullying, ADHD symptoms and gender differences should be emphasized and comprehensive interventions should be implemented.
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AIM: To observe the visual improvement and anatomical closure of patients with full-thickness macular hole(FTMH)accompanied by lamellar hole-associated epiretinal proliferation(LHEP)after vitrectomy.METHODS: A retrospective study of clinical cases. A total of 28 cases(28 eyes)of patients diagnosed with FTMH in our hospital between January 2018 and January 2022 were included, and they were divided into 12 cases(12 eyes)in the LHEP group and 16 cases(16 eyes)in the non-LHEP group according to the presence or absence of LHEP. All subjects had undergone vitrectomy. The best corrected visual acuity(BCVA)before and 1a after operation, hole closure, continuity of ellipsoid zone and external limiting membrane(ELM), intraocular pressure(IOP), and postoperative complications were compared between the two groups.RESULTS: Preoperative BCVA(LogMAR)was 0.80±0.17 in the LHEP group and 0.92±0.27 in the non-LHEP group(t=1.406, P=0.172); BCVA at 1a after operation was 0.54±0.14 in the LHEP group and 0.39±0.10 in the non-LHEP group(t=3.399, P=0.002). BCVA at 1a after operation was significantly improved in both groups compared with that before operation(tLHEP group=4.029; PLHEP group=0.001; tnon-LHEP group=7.445, Pnon-LHEP group=0.001); the difference in BCVA(LogMAR)before and after the operation was 0.27±0.16 in the LHEP group and 0.52±0.26 in the non-LHEP group(t=3.153, P=0.002). The hole closed in both groups 1a after the operation, and the closure rate was 100%. The ellipsoid zone closed in 20%(2/12)of patients in the LHEP group and 56%(9/16)in the non-LHEP group(Pellipsoid zone=0.04); the ELM closed in 25%(3/12)of patients in the LHEP group and 69%(11/16)in the non-LHEP group(PELM=0.027). A postoperative transient IOP elevation occurred in 2 eyes of the LHEP group and 3 eyes of the non-LHEP group, respectively. There were no significant cataract or serious complications after the vitrectomy in either group.CONCLUSIONS: Compared with FTMH patients without LHEP, the BCVA improvement after vitrectomy was less in FTMH patients with LHEP. Although their macular hole was closed, the closure rates of ellipsoid zone and ELM were lower, and the duration of continuity interruption was longer, so the prognosis requires further clarification.
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Transient forebrain ischemia-reperfusion(I/R);Brain-derived neurotrophic factor(BDNF);Histone deacetylase 3(HDAC3);Hippocampus@#Objective To evaluate the effect of transient forebrain ischemia-reperfusion(I/R)on the binding of brainderived neurotrophic factor(BDNF)promoters to histone deacetylase 3(HDAC3)in the hippocampus of rat and investigate its mechanism.Methods The I/R model of SD rats(I/R group)was established by Pulsinelli four-vessel clamping method,and sham operation group(Sham group)was set at the same time,which were observed for the survival of neurons in the hippocampus of rats by Nissl staining,detected for the binding of BDNF promoters(Bdnf-p1,Bdnf-p2,Bdnf-p4 and Bdnf-p6)to HDAC3 by chromatin immunoprecipitation(ChIP)and determined for the expression of brain derived neurotrophic factor antisense(BDNF-AS)by qPCR.Results Compared with Sham group,the quantity of neurons in hippocampal CA1 region of rats decreased significantly in I/R group,while those in CA3 region and DG region showed no significant changes.The binding levels of Bdnf-p1 and Bdnf-p2 to HDAC3 in hippocampal CA1 region decreased significantly in I/R Group(t = 2.575 and 2.241 respectively,each P<0.05),while there was no significant difference in the binding levels of Bdnf-p4 and Bdnf-p6 to HDAC3(t = 1.033 and 0.348 respectively,each P>0.05);The binding levels of Bdnf-p1 and Bdnf-p2 to HDAC3 in CA3 region increased significantly(t = 12.600 and 3.191,P<0.001 and<0.05,respectively),while the binding level of Bdnf-p6 to HDAC3 decreased significantly(t = 4.029,P<0.05)and no significant difference was observed in the binding level of Bdnf-p4 to HDAC3(t = 0.175,P>0.05);In DG region,the binding level of each BDNF promoter to HDAC3 showed no significantly difference(t = 0.630 ~ 1.687,each P>0.05).Meanwhile,the expression level of BDNF-AS in hippocampal CA1 region of rats decreased significantly(t = 2.560,P<0.05),but increased significantly in hippocampal CA3 and DG regions(t = 3.543 and 3.637 respectively,each P<0.01)in I/R group.Conclusion I/R showed a significant effect on the binding level of BDNF promoter to HDAC3 in rat hippocampus,which may play a role by changing the expression level of BDNF-AS.
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Objective:To investigate the correlation between exhaled nitric oxide and obstructive sleep apnea-hypopnea syndrome (OSAHS).Methods:Eighty patients with OSAHS (OSAHS group) who received treatment in Pingxiang People's Hospital from September 2019 to September 2021 were included in this study. An additional 60 patients with snoring (snoring group) who concurrently received treatment in the same hospital were included in the control group. The value of exhaled nitric oxide was measured using an exhaled nitric oxide detector. The relationship between exhaled nitric oxide and apnea-hypopnea index, and the lowest oxygen saturation level during sleep (LSaO 2) was analyzed using Pearson correlation analysis. The optimal cut-off value of exhaled nitric oxide for predicting OSAHS was analyzed using the receiver operating characteristic curve. Results:Exhaled nitric oxide and apnea-hypopnea index in the OSAHS group were (18.61 ± 6.23) μg/L and (44.50 ± 16.15) times/hour, respectively, which were significantly greater than (11.17 ± 4.31) μg/L and (2.91 ± 0.79) times/hour in the snoring group ( t = 7.94, 14.08, both P < 0.05). LSaO 2 in the OSAHS group was significantly lower than that in the snoring group [(66.53 ± 10.17)% vs. (92.15 ± 1.62)%, t = -13.61, P < 0.05]. Correlation analysis showed that exhaled nitric oxide levels in patients with OSAHS were positively correlated with apnea-hyponea index ( r = 0.56, P = 0.001), and negatively correlated with the lowest oxygen saturation level ( r = -0.54, P = 0.002). The receiver operating characteristic curve analysis revealed that when the optimal cut-off value of exhaled nitric oxide was 11.5 μg/L, the area under the curve was 0.846, with sensitivity of 91.3%, and specificity of 63.3%. Conclusion:Patients with OSAHS have airway inflammatory reactions. The level of nitric oxide in exhaled air is positively correlated with the severity of OSAHS, which has a certain clinical value.
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Objective@#To explore the effects of long non-coding RNA (LncRNA) MIR22HG on proliferation,apoptosis and inflammatory response of rheumatoid arthritis (RA) fibroblast-like synoviocytes (FLSs) and its molecular mechanism.@*Methods@#Synovial tissue samples were collected from 37 RA patients and 30 joint trauma patients in our hospital,and the expression levels of MIR22HG and miR-22-5p in synovial tissue were detected by qRT-PCR. RA-FLSs in human was isolated ,cultured and identified in vitro. MIR22HG siRNA interference plasmid (si-MIR22HG) and its negative control plasmid (si-NC) ,miR-22-5p inhibitor and its negative control (inhibitorNC) were transfected into RA-FLSs respectively or simultaneously.The expression levels of MIR22HG and miR- 22-5p were detected by qRT-PCR. CCK-8 was used to detect the proliferation activity of cells in various groups. Annexin Ⅴ- FITC / PI was used to detect the apoptosis rates of cells in various groups.ELISA was used to detect the levels of TNF-α , IL-1 β and IL-6 in the supernatant of cells in various groups.Western blot was used to detect the protein expression levels of Bcl-2,Bax and Cleaved caspase-3 of cells in various groups.The targeting relationship between MIR22HG and miR-22-5p was verified by dual luciferase reporter gene assay. @*Results @#Compared with joint trauma patients,the expression level of MIR22HG in synovial tissues of RA patients increased (P<0. 05) , while the expression level of miR-22-5p decreased (P<0. 05) .Interference with MIR22HG inhibited the proliferation activity of RA-FLSs,decreased the levels of TNF-α , IL-1 β and IL-6 in cell supernatant and the protein expression level of Bcl-2 in cells (P<0. 05) ,and increased the apoptosis rate,the expression level of miR-22-5p and the protein expression levels of Bax and Cleaved casepase-3 (P <0. 05 ) .However,inhibition of miR-22-5p expression reversed the effects of MIR22HG gene silencing on proliferation,apoptosis and inflammation of RA-FLSs (P<0. 05) .Dual luciferase reporting assay showed that miR-22-5p was a potential downstream miRNA target of MIR22HG.@*Conclusion@# MIR22HG is highly expressed in synovial tissues of RA patients,and it may promote the proliferation and the inflammatory response of RA-FLSs and inhibit cell apoptosis by down regulating the expression of miR-22-5p.
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The ethyl acetate part of the alcoholic extract of Cordia dichotoma fruits was purified by a combination of normal-phase silica gel column chromatography, Sephadex LH-20 gel column chromatography and semi-preparative HPLC, and the structure was identified by modern spectroscopic techniques (UV, IR, MS, NMR). A total of 10 compounds were isolated and identified as cordilide (1), (S)-2-hydroxy-3-(4′-hydroxyphenyl) propanoic acid (2), vanillic acid (3), p-coumaric acid (4), 3-hydroxy-1-(4-hydroxy-3-methoxyphenyl)propan-1-one (5), benzoic acid (6), p-hydroxypropiophenone (7), p-hydroxyacetophenone (8), 5′-methoxyevofolin B (9) and vanillin (10). Among them, compound 1 is a pair of new phenylpropanoid enantiomers, and compounds 3, 6, 8 and 9 were isolated for the first time from the genus.
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Objective: To explore the effect of fine particulate matter (PM2.5) pollution on depression hospitalization cost and length of stay in 57 cities of China. Methods: A total of 84 207 patients with depression in 57 cities of China from January 2013 to December 2017 were selected as the subjects. The demographic characteristics and hospitalization status of the patients were obtained from the database of basic medical insurance for urban workers and urban residents in China. The environmental exposure data of the same period were obtained from the national air quality real-time release platform of China Environmental Monitoring Station. A generalized additive model based on quasi-Poisson distribution was used to analyze PM2.5 exposure effect in each city, and the nonlinear mixing of moving average temperature, relative humidity and date was controlled by natural smooth spline function. Results: Among the included cities, southern cities accounted for 50.88% (29), and the number of female inpatients, hospitalization costs and hospitalization days accounted for 62.65%, 63.50% and 60.85% (42 735 cases, 567.78 million yuan and 1.14 million days, respectively). The proportion of hospitalized cases, hospitalization cost and length of stay in the age group of 40 to 64 years old were 59.15% (40 346 cases), 53.92% (482.15 million yuan) and 52.07% (0.98 million days), respectively. PM2.5 level was positively correlated with the number of hospitalized cases with depression, hospitalization cost and length of stay. When the 3-day moving average of PM2.5 exposure level increased by 10 μg/m3, the number of hospitalization cases increased by 0.64%. The attributed percentage (95%CI) of hospitalized cases, hospitalization costs and length of stay were 3.35% (0.57%-6.04%), 3.04% (0.52%-5.48%) and 3.07% (0.49%-5.56%), respectively. Subgroup analysis showed that the attributed percentage of hospitalization cases, hospitalization cost and length of stay to PM2.5 exposure ranged from 3.97% to 4.68%, 4.04% to 4.33% and 4.13% to 4.30% in northern China, male and cold season, respectively. Conclusion: PM2.5 exposure is associated with the increase of hospitalization cost and length of stay among Chinese urban population with depression.
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Adult , Female , Humans , Male , Middle Aged , Air Pollutants/analysis , Air Pollution/analysis , China/epidemiology , Depression , Dust/analysis , Hospitalization , Particulate Matter/analysisABSTRACT
Objective:To analyze pathogenic mutations in a child with ankyloblepharon-ectodermal defects-cleft lip/palate syndrome.Methods:Clinical data were collected from a patient with ankyloblepharon-ectodermal defects-cleft lip/palate syndrome, and DNA was extracted from peripheral blood samples from the patient and his parents. High-throughput sequencing was performed in the patient by using a gene panel targeting hereditary skin diseases, aiming to determine sites of disease-causing gene mutations. Then, Sanger sequencing was conducted to bidirectionally verify the mutations in the patient and his parents.Results:The male patient aged 3 years and 9 months, and presented with extensive erythema, scales, erosions as well as repeated infections and erosions of the scalp after birth. Reticulated hyper- and hypopigmented patches and scars left on the trunk and limbs after healing of erosions. Physical examination also showed sparse scalp hair, absence of most eyebrows and eyelashes, cleft palate, dysplastic teeth, dystrophic finger and toe nails, and deformed ears without ankyloblepharon. Genetic testing of the patient showed a novel heterozygous missense mutation c.1790T>A (p.Ile597Asn) in the TP63 gene, which had not been reported previously and was rated as pathogenic according to the American College of Medical Genetics and Genomics guidelines. This mutation was not identified in either of his parents.Conclusion:The novel heterozygous missense mutation c.1790T>A in the TP63 gene probably contributes to ankyloblepharon-ectodermal defects-cleft lip/palate syndrome in the patient, which expands genotypic and phenotypic spectrum of this disease.
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Objective:To analyze gene mutations in and clinical phenotypes of 4 children with recessive dystrophic epidermolysis bullosa (RDEB) .Methods:Clinical data were collected from 4 children with RDEB, and DNA was extracted from peripheral blood samples of the children and their parents. A multi-gene panel targeting congenital epidermolysis bullosa was used for high-throughput sequencing. After identification of causative gene mutations, Sanger sequencing was performed to bidirectionally verify the mutations in the patients and their parents.Results:Genetic testing showed 8 compound heterozygous mutations in the COL7A1 gene in the 4 cases. Case 1 was diagnosed with moderate generalized RDEB, and inherited a paternal mutation c.7828C>T and a maternal mutation c.448G> A; case 2 was also diagnosed with moderate generalized RDEB, and inherited a paternal mutation c.3625_3635del and a maternal mutation c.2726_2728del; case 3 was diagnosed with localized RDEB, carrying a paternal mutation c.682+1G>A and an allelic mutation c.5532+1G>A, but the mutation c.5532+1G>A was not identified in the DNA extracted from the parental peripheral blood samples; case 4 was diagnosed with severe generalized RDEB, and inherited a paternal mutation c.5196delC and a maternal mutation c.500_501insAGGG. Among these mutations, c.2726_2728del and c.5196delC had not been reported previously.Conclusions:All the 4 children with RDEB carried compound heterozygous mutations in the COL7A1 gene, which may be the cause of RDEB. The phenotypes of biallelic frameshift mutation carriers appearred more severe than those of carriers of compound heterozygous mutations composed of biallelic splice site, missense and nonsense, frameshift and amino acid deletion or insertion mutations.
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Objective: To investigate the effect and its underlying molecular mechanisms of essential oil from Saussurea costus in esophageal cancer cell line Eca109. Methods: The chemical composition of essential oil from Saussurea costus was investigated by gas chromatography-mass spectrometry (GC-MS). The anti-proliferative, anti-migrative, and apoptotic effects of essential oil from Saussurea costus against Eca109 cells were analyzed. Moreover, the expression of proteins associated with cell cycle, metastasis, and apoptosis was determined. Results: GC-MS analysis showed that essential oil from Saussurea costus was predominantly comprised of sesquiterpenes. Saussurea costus essential oil inhibited the viability of Eca109 cells in a dose-and time-dependent manner with IC 50 values of (24.29±1.49), (19.16±2.27) and (6.97±0.86) μg/mL at 12, 24, and 48 h, respectively. The expression levels of target proteins in the cell cycle (phase G 1 /S), including cyclin D1, p21, and p53, were affected by Saussurea costus essential oil. The essential oil also downregulated the expression of metastasis-related proteins MMP-9 and MMP-2. Moreover, it induced apoptosis of Eca109 cells through the mitochondrial pathway, as well as inhibition of STAT3 phosphorylation. Conclusions: The essential oil from Saussurea costus exhibited anti-proliferative, anti-migrative, and apoptotic effects on Eca109 cells, and could be further explored as a potential anti-esophageal cancer agent.
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Silica gel column chromatography, reversed phase C18 column chromatography, Sephadex LH-20 gel column chromatography, high performance liquid chromatography and medium performance semi preparative liquid chromatography were performed to separate and purify the chemical constituents of Hypericum lagarocladum N. Robson. Spectroscopic methods such as MS and NMR combined with physicochemical properties were applied in identifying the structures of the isolated compounds. A total of 11 compounds were isolated and identified as hyperlagarone A (1), hyperpatulone E (2), hyperbeanol G (3), uralione D (4), tomoeone F (5), pyramidatone A (6), tomoeone A (7), tomoeone B (8), hyperbeanol C (9), hyperbeanol A (10), and hypercohone G (11), respectively. Compound 1 is a new polycyclic polyprenylated acylphloroglucinol derivative, and compounds 2-11 are isolated from this plant for the first time. 11 compounds were tested for glucose uptake in L6 cells, and the results showed that compounds 7 and 8 had significant effect on glucose uptake.
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Objective: To investigate the effect and its underlying molecular mechanisms of essential oil from Saussurea costus in esophageal cancer cell line Eca109. Methods: The chemical composition of essential oil from Saussurea costus was investigated by gas chromatography-mass spectrometry (GC-MS). The anti-proliferative, anti-migrative, and apoptotic effects of essential oil from Saussurea costus against Eca109 cells were analyzed. Moreover, the expression of proteins associated with cell cycle, metastasis, and apoptosis was determined. Results: GC-MS analysis showed that essential oil from Saussurea costus was predominantly comprised of sesquiterpenes. Saussurea costus essential oil inhibited the viability of Eca109 cells in a dose-and time-dependent manner with IC 50 values of (24.29±1.49), (19.16±2.27) and (6.97±0.86) μg/mL at 12, 24, and 48 h, respectively. The expression levels of target proteins in the cell cycle (phase G 1 /S), including cyclin D1, p21, and p53, were affected by Saussurea costus essential oil. The essential oil also downregulated the expression of metastasis-related proteins MMP-9 and MMP-2. Moreover, it induced apoptosis of Eca109 cells through the mitochondrial pathway, as well as inhibition of STAT3 phosphorylation. Conclusions: The essential oil from Saussurea costus exhibited anti-proliferative, anti-migrative, and apoptotic effects on Eca109 cells, and could be further explored as a potential anti-esophageal cancer agent.
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Objective@#To investigate the brain function and their correlation with sleep beliefs and attitudes in adolescents with drug naive insomnia by using fractional amplitude of low frequency fluctuation, so as to provide a reference for the mechanism and treatment of insomnia.@*Methods@#An insomnia group ( n =21) recruited first episode, drug naive, adolescents with insomnia who met the diagnostic criteria of the American Diagnostic and Statistical Manual of Mental Disorders(DSM-V). Healthy subjects matched with age, gender, and educational background were selected as the control group ( n =20). Pittsburgh Sleep Quality Index Scale (PSQI), Brief Version of Dysfunctional Beliefs and Attitudes about Sleep (DBAS-16), 24 Items Hamilton Depression Scale (HAMD-24), 14 Items Hamilton Anxiety Scale (HAMA-14) were evaluated. Fractional amplitude of low frequency fluctuation was used for analysis, and Pearson correlation analysis was employed to quantify the correlation between peak values of brain regions with significant differences and the clinical scale scores of the two groups.@*Results@#Compared with the control group, ractional amplitude of low frequency fluctuation(fALFF) values in the insomnia group were significantly decreased ( P <0.01, Alphaism corrected) in the left dorsolateral prefrontal lobe (L-DLPFC, MNI coordinates: -12, 60, 21, t =-3.85, K =495) and the left precuneus (MNI coordinates: -3, -54, 51, t =-4.29, K =417). The fALFF value of L-DLPFC in the insomnia group was positively correlated with DBAS-16 score ( r= 0.47 , P = 0.04 ).@*Conclusion@#Abnormalities in the L-DLPFC region suggest that adolescents with insomnia may suffer from impaired regulation of emotional and cognitive activities related to sleep.
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Objective:To summarize the clinical manifestations and gene mutation features of patients with nucleotide excision repair (NER) disorders.Methods:A retrospective analysis was made on clinical data of patients with NER disorders who were admitted to the Chinese People′s Liberation Army General Hospital from October 2008 to February 2022 and diagnosed in the Outpatient Department of Beijing Children′s Hospital, Capital Medical University from October 2015 to February 2022.Literature on previously reported Chinese patients with NER disorders was reviewed.Results:(1)A total of 16 patients with NER disorders were enrolled, including 6 males and 10 females.The onset age was 7.5 (4.0, 12.0) months and the age at diagnosis was 42.0 (21.5, 77.0) months.There were 3 types of NER disorders: Cockayne syndrome (CS) in 13 cases, Xeroderma Pigmentosum (XP) in 2 cases and Cerebro-Oculo-Facio-Skeletal syndrome (COFS) in 1 case.Four disease-causing genes were detected: CSA gene in 11 cases, CSB gene in 3 cases, XPG gene in 1 case, and XPD gene in 1 case.The first symptoms of the 16 patients were photosensitivity and developmental delay, and neurological symptoms were observed in all the 3 NER disorder types.XP and CS patients had skin symptoms.CS patients presented typical facial features, visual and auditory impairment, microcephaly and changes in neuroimaging features.COFS patients showed intrauterine growth retardation.(2)Results of literature review: a total of 96 Chinese patients reported were retrieved, involving 6 disease types, including CS in 45 cases, XP in 44 cases, trichothiodystrophy in 4 cases, COFS in 1 case, XP-CS in 1 case, and ultraviolet sensitive syndrome in 1 case.Nine mutated genes were identified: CSA in 33 cases, XPA in 15 cases, CSB in 13 cases, XPV in 10 cases, XPC in 9 cases, XPG in 7 cases, XPD in 7 cases, XPF in 1 case, and MPLKIP in 1 case.The common symptoms were growth failure (62 cases), skin photosensitivity (61 cases), typical facial features (52 cases), mental retardation (49 cases) and microcephaly (48 cases). Among 36 cases had imaging data 33 cases(91.7%)had calcification of basal nucleus or globus pallidus.Three cases had intrauterine growth retardation and microcephaly during pregnancy. Conclusions:Patients with such prenatal manifestations as intrauterine growth retardation and microcephaly or with typical symptoms like skin photosensitivity, typical facial features, growth failure, mental retardation, hypertonia, and calcifications of basal ganglia should be suspected of NER disorders.Early genetic testing is recommended to confirm the diagnosis.
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OBJECTIVES@#To study the cooling reaction kinetic characteristics of the temperature difference between cadaver temperature and ambient temperature (hereinafter referred to as "cadaver temperature difference") according to the reaction kinetics method.@*METHODS@#Thirty rabbits were randomly divided into 5 groups with 6 rabbits in each group. The rabbits were injected with 10% potassium chloride solution intravenously. After death, the rabbits were placed at 5 ℃, 10 ℃, 15 ℃, 20 ℃ and 25 ℃ environment condition, respectively, and the rectal temperature was measured every minute for 20 hours. The measured cadaver temperature was subtracted from ambient temperature, and the cadaver temperature difference data was calculated using the reaction kinetics formula. The linear regression equation was fitted for analysis, and the experimental results were applied to the temperature difference data of human body after death for verification.@*RESULTS@#Under different environmental conditions, the linear coefficient determination of temperature difference -ln(C/C0) in rabbits was 0.99, showing a good linear relationship with time t. The application of human body temperature data after death was consistent with the results of animal experiments.@*CONCLUSIONS@#Under stable conditions, the temperature difference cooling process after death in rabbits is a first-order kinetic response. The method can also be used to study the temperature difference in human body after death.
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Animals , Humans , Rabbits , Body Temperature , Temperature , Kinetics , CadaverABSTRACT
BACKGROUND: G protein coupled receptor kinase 2 (GRK2) has been demonstrated to play a crucial role in the development of chronic pain. Acupuncture is an alternative therapy widely used for pain management. In this study, we investigated the role of spinal neuronal GRK2 in electroacupuncture (EA) analgesia. METHODS: The mice model of inflammatory pain was built by subcutaneous injection of Complete Freund's Adjuvant (CFA) into the plantar surface of the hind paws. The mechanical allodynia of mice was examined by von Frey test. The mice were subjected to EA treatment (BL60 and ST36 acupuncture points) for 1 week. Overexpression and down-regulation of spinal neuronal GRK2 were achieved by intraspinal injection of adeno associated virus (AAV) containing neuron-specific promoters, and microglial activation and neuroinflammation were evaluated by real-time PCR. RESULTS: Intraplantar injection with CFA in mice induced the decrease of GRK2 and microglial activation along with neuroinflammation in spinal cord. EA treatment increased the spinal GRK2, reduced neuroinflammation, and significantly decreased CFA-induced mechanical allodynia. The effects of EA were markedly weakened by non-cell-specific downregulation of spinal GRK2. Further, intraspinal injection of AAV containing neuron-specific promoters specifically downregulated neuronal GRK2, and weakened the regulatory effect of EA on CFA-induced mechanical allodynia and microglial activation. Meanwhile, overexpression of spinal neuronal GRK2 decreased mechanical allodynia. All these indicated that the neuronal GRK2 mediated microglial activation and neuroinflammation, and subsequently contributed to CFA-induced inflammatory pain. CONCLUSION: The restoration of the spinal GRK2 and subsequent suppression of microglial activation and neuroinflammation might be an important mechanism for EA analgesia. Our findings further suggested that the spinal GRK2, especially neuronal GRK2, might be the potential target for EA analgesia and pain management, and we provided a new experimental basis for the EA treatment of pain.
Subject(s)
Animals , Mice , Electroacupuncture , Microglia/physiology , G-Protein-Coupled Receptor Kinase 2/physiology , Pain Management , Pain/chemically induced , Inflammation/chemically induced , Inflammation/therapy , NeuronsABSTRACT
Resumo Fundamento: O enxerto de bypass na artéria coronária (CABG) continua a ser eficiente como tratamento para pacientes portadores de doença arterial coronariana; entretanto, o enxerto venoso tende a apresentar reestenose ou oclusão. A adiponectina (ADP) é uma proteína hormonal plasmática com a função de regular a proliferação celular. Objetivo: Foram utilizadas duas doses diferentes da proteína ADP em um modelo de enxerto venoso em ratos para estimular a alteração do enxerto venoso. O objetivo deste estudo foi investigar o efeito da ADP sobre a reestenose em enxerto venoso. Métodos: Veias jugulares autólogas foram implantadas como enxertos interposicionais de carótida pela técnica de anastomose de manga em ratos Sprague Dawley. A adiponectina (2,5 μg e 7,5 μg) foi entregue ao enxerto venoso por bypass de forma perivascular, suspensa em gel Pluronic-F127 a 30%. O grupo tratado apenas com bypass e o grupo tratado com gel veículo carregado apenas com Pluronic funcionaram como controle. Foram feitas comparações com análise de via única de variância e teste post-hoc, com p <0,05 sendo considerado significativo. Resultados: A proliferação celular (índice de PCNA) foi significativamente baixa no grupo tratado com adiponectina em comparação com o grupo de controle e o grupo tratado com o gel veículo na íntima e na adventícia dos enxertos a partir do dia 3 (p <0,01). VCAM-1 e ICAM-1 avaliados por imuno-histoquímica diminuíram significativamente em enxertos venosos tratados com adiponectina na quarta semana (p <0,01). O tratamento de enxertos venosos com gel carregado com adiponectina reduziu a espessura da íntima, da média e da adventícia, em comparação com os enxertos de controle e tratados com gel veículo no dia 28 (p <0,01). Conclusões: Este estudo oferece evidências adicionais do possível papel terapêutico da adiponectina na modulação de lesão vascular e seu reparo.
Abstract Background: Coronary artery bypass grafting (CABG) continues to be an effective therapy for coronary artery disease patients, but the vein graft is prone to restenosis or occlude. Adiponectin (ADP) is a plasma hormone protein with the function of regulating cell proliferation. Objective: This study used two different doses of ADP protein in a rat vein graft model to stimulate vein graft change. The aim of our study was to investigate the effect of ADP on vein graft restenosis. Methods: Autologous jugular veins were implanted as carotid interposition grafts through the anastomotic cuff technique in Sprague Dawley rats. Adiponectin (2.5 μg and 7.5 μg) was delivered to the vein bypass grafts in a perivascular fashion, suspended in a 30% Pluronic-F127 gel. No treatment (bypass only) and vehicle loaded Pluronic gel served as controls. Comparisons were made with one-way analysis of variance and a post-hoc test, with p < 0.05 considered significant. Results: Cell proliferation (PCNA index) was significantly low in adiponectin-treated versus control and vehicle-gel-treated grafts, both in intima and adventitia, as of day 3 (p < 0.01). VCAM-1 and ICAM-1 evaluated by immunohistochemistry significantly down-regulated in the adiponectin-treated vein grafts in the fourth week (p <0.01). Treatment of vein grafts with adiponectin-loaded gels reduced intimal, media, and adventitia thickness when compared with the control and vehicle-gel-treated vein grafts at day 28 (p < 0.01). Conclusions: Our studies provide further support for the potential therapeutic role of adiponectin in modulating vascular injury and repair.
ABSTRACT
Objective:To study the clinical efficacy of orthopedics No.1 prescription combined with celecoxib in the treatment of knee osteoarthritis (KOA) with middle stage of cold-dampness syndrome and investigate its effect on serum cytokines levels. Method:The 72 patients were randomly divided into control group and observation group, with 36 cases each. Patients in both groups were given basic treatment with oral celecoxib capsules (0.2 g/ time, 1 time/day). On the basis of western medicine treatment, patients in observation group were treated with orthopedics No.1 prescription decoction-free granules by fumigation, 1 bag/time, 1 time/day, 5 times/week. Both groups received treatment for 4 weeks. The visual analog pain score (VAS), American knee society knee score (KSS), serum interleukin-1<italic>β </italic>(IL-1<italic>β</italic>), tumor necrosis factor-<italic>α </italic>(TNF-<italic>α</italic>), and transforming growth factor-<italic>β</italic><sub>1 </sub>(TGF-<italic>β</italic><sub>1</sub>) levels were observed before and after treatment, and their clinical efficacy was evaluated. Result:After treatment, VAS score significantly decreased in both groups (<italic>P</italic><0.01), and KSS score significantly increased (<italic>P</italic><0.01), with better clinical effect in observation group. After treatment, serum IL-1<italic>β</italic> and TNF-<italic>α</italic> levels decreased significantly in both groups (<italic>P</italic><0.01), and the levels in observation group were lower than those in control group after treatment (<italic>P</italic><0.05). TGF<italic>-β</italic><sub>1 </sub>content was significantly higher than that before treatment in two groups (<italic>P</italic><0.01). Conclusion:Orthopedics No.1 prescription combined with celecoxib for the treatment of KOA with middle stage of cold-dampness syndrome can effectively relieve the clinical symptoms of patients with KOA, improve joint function, improve quality of life, reduce the contents of inflammatory factors IL-1<italic>β</italic> and TNF-<italic>α</italic> in serum, and increase the expression of TGF-<italic>β</italic><sub>1</sub> level.