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OBJECTIVE@#To carry out genetic testing and prenatal diagnosis for a woman featuring moderate intellectual disability (ID).@*METHODS@#The patient had presented at the First Affiliated Hospital of Zhengzhou University on April 28, 2021. With informed consent, peripheral blood and amniotic fluid samples were collected for the extraction of genomic DNA. Pathogenic copy number variations (CNVs) were detected with CNV-seq, and single gene variants were detected by whole exome sequencing (WES) and Sanger sequencing. Candidate variant was verified by Sanger sequencing, and CNV-seq and multiplex ligation-dependent probe amplification (MLPA) were used to detect fetal CNVs.@*RESULTS@#The 23-year-old woman had moderate ID, sideway walking, and unstable holding. Ultrasonography at 18+3 weeks' gestation had revealed no fetal abnormality. No pathogenic CNV was detected in the woman by CNV-Seq, while WES revealed that she has harbored a heterozygous c.1675C>T (p.Arg559*) variant of the DLG4 gene, which was verified by Sanger sequencing. Based on guidelines from the American College of Medical Genetics and Genomics, the variant was predicted to be likely pathogenic (PVS1+PM2_supporting). Sanger sequencing has confirmed that the fetus has inherited this variant, and CNV-Seq also revealed that that fetus has harbored a 0.1 Mb heterozygous deletion at Xp21.1, which has encompassed the DMD gene, and the result was verified by MLPA.@*CONCLUSION@#The heterozygous c.1675C>T variant of the DLG4 gene probably underlay the mental retardation in this woman, and her fetus was found to harbor the same variant in addition with deletion of the DMD gene, which may predispose to ID type 62.
Subject(s)
Female , Humans , Pregnancy , Young Adult , Disks Large Homolog 4 Protein , DNA Copy Number Variations , Fetus , Genetic Testing , Intellectual Disability/genetics , Pregnant WomenABSTRACT
Attenuated Salmonella typhimurium VNP20009 is a widely used natural oncolytic bacterium, which has great application potential given its unique characteristics, including clinical safety, tumor targeting specificity, and explicit genome sequence. Here, we show that tumor progression can be effectively reduced by intraperitoneal administration with VNP20009 in a mouse model of melanoma (all animal experiments were conducted in accordance with the Animal Ethics Committee of China Pharmaceutical University); co-culture experiment in vitro demonstrated that VNP20009 can induce the polarization of macrophage M1, accompanied by expression of inflammation-related factors; flow cytometry analysis showed that VNP20009 induced the increase of immune cell infiltration in tumor. Further analysis showed that T cells infiltration in tumor-draining lymph node (TDLN) increased, and VNP20009 induced the activation of CD4+ T cells and CD8+ T cells in tumor. Our results demonstrate that VNP20009 treatment significantly inhibited melanoma tumors by remodeling tumor-associated macrophages to an M1-like phenotype, as well as recruiting and activating cytotoxic T cells, combined with its own antigenic activity to exert anti-tumor immunity.
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Objective:To investigate the effect of BMAL1 gene on the proliferation, migration and invasion ability of radiation-resistant nasopharyngeal carcinoma cell line (5-8FR) and the molecular mechanism. Methods:A multi-target click model was constructed for radiation-resistant nasopharyngeal carcinoma cell line 5-8FR by low-dose fractionated irradiation, and the results of clone formation assay were used to fit the multi-target click model and calculate the sensitization ratio of radiotherapy. The expression levels of PI3K/Akt/MMP-2/9 signaling pathway-related proteins in 5-8FR and control 5-8F cell lines were detected by Western blot. The overexpression and knockdown vectors of BMAL1 gene were constructed and transfected with 5-8F and 5-8F cell lines, respectively. The BMAL1 gene overexpression (pcDNA-BMAL1) and its control (pcDNA) and interference (BMAL1-shRNA) and control (con-shRNA) cell lines were stably transfected with nasopharyngeal carcinoma cell line 5-8F and radiation-resistant cell line 5-8FR, respectively. Western blot was performed to verify the infection efficiency and detect the changes of PI3K/Akt/MMP-2/9 signaling pathway-related proteins after overexpression or interference of BMAL1 gene in both groups of cells. CCK-8 assay, cell scratch test and Transwell chamber test were conducted to investigate the proliferation, migration and invasion capabilities of 5-8FR cell line after overexpression or interference of BMAL1 gene. Results:BMAL1 gene expression was down-regulated, and those of PI3K/Akt pathway proteins and downstream related molecules of MMP-2 and MMP-9 were up-regulated, and TIMP-2 and TIMP-1 expression was down-regulated in nasopharyngeal carcinoma radiation-resistant cell lines. Overexpression of BMAL1 gene inhibited the expression of PI3K/Akt pathway proteins and downstream related molecules of MMP-2 and MMP-9, promoted the expression of TIMP-2 and TIMP-1, and inhibited the proliferation, migration and invasion capabilities of radiation-resistant nasopharyngeal carcinoma cells, while interference with BMAL1 gene yielded the opposite results. Conclusions:BMAL1 gene can reverse the expression of PI3K/Akt/MMP-2/9 signaling pathway-related proteins in radiation-resistant nasopharyngeal carcinoma cell lines and inhibit the proliferation, migration and invasion capabilities of radiation-resistant nasopharyngeal carcinoma cell lines.
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Mycena subpiligera, a new taxon in sect. Fragilipedes that can strongly enhance the germination efficiency of Gastrodia elata seeds, was discovered in subtropical areas of China. As revealed by a morphological comparison with related Mycena species as well as maximum likelihood (ML) and Bayesian phylogenetic analyses based on sequences of the internal transcribed spacer (ITS) and the large subunit (LSU) regions of nuclear ribosomal RNA, the new taxon can be distinguished from phenotypically similar and phylogenetically related species. Optimal cultural conditions for M. subpiligera basidiomata are reported, and the germination rate of the new species is compared with that of M. citrinomarginata.
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Objective:To conduct quality evaluation of Ginkgo Folium preparations by analyzing the national evaluation sampling test results, analyze the quality differences, and put forward suggestions for the improvement of quality standards and market supervision. Method:The contents of total flavonol glycosides and terpene lactones in Ginkgo Folium tablets and Ginkgo Folium capsules were determined according to the methods of determination in the 2015 edition of Chinese Pharmacopoeia (the first volume), and the contents of free flavonoids (quercetin, kaempferide and isorhamnetin) and sophoricoside in Ginkgo Folium preparations were determined according to related supplementary testing method of Ginkgo Folium tablets and Ginkgo Folium capsules issued by National Medical Products Administration. The quality differences of Ginkgo Folium preparations from different batches and different manufacturers were compared according to the contents of total flavonol glycosides, terpene lactones, free flavonoids and sophoricoside in 328 batches of Ginkgo Folium tablets and Ginkgo Folium capsules manufactured by 48 enterprises. Result:Quality of 328 batches of Ginkgo Folium tablets and Ginkgo Folium capsules was in accordance with the standard, but the contents of terpene lactones and total flavonol glycosides were all distributed in a wide range, and the quality of samples varied greatly among different enterprises. Conclusion:It is recommended that each enterprise should optimize the production process and strictly control the raw materials to ensure the consistency between different batches of samples.
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This study aims to develop a UPLC-MS/MS method for simultaneous determination of six pyrrolizidine alkaloids(PAs)--intermedine N-oxide(ImNO), lycopsamine N-oxide(LyNO), seneciphylline(Sp), seneciphylline N-oxide(SpNO), senecionine N-oxide(SnNO), and senkirkine(Sk) in different parts of Emilia sonchifolia. UPLC conditions are as follows: ACQUITY UPLC HSS T3 column(2.1 mm×100 mm, 1.8 μm), mobile phase consisting of 0.05% formic acid and 2.5 mmol·L~(-1) ammonium formate in water(A)-0.05% formic acid and 2.5 mmol·L~(-1) ammonium formate in acetonitrile(B) for gradient elution. MS conditions are as below: electrospray ionization(ESI) in the positive ion mode, multiple reaction monitoring(MRM), and the content of the six PAs was calculated with the external standard method. The results suggested the differences in the six PAs among different parts of E. sonchifolia. Sk was detected in all the four parts, with similar content. SnNO also existed in all the four parts, but the content in roots was significantly higher than that in other parts. Sp and SpNO were found in both roots and flowers, with the content higher in the former than in the later. ImNO and LyNO were only found in leaves, and the content was low. Among the six components detected, ImNO, LyNO, and SpNO were found and determined for the first time, which enriched the toxic components and laid a scientific basis for the quality and safety evaluation of E. sonchifolia.
Subject(s)
Asteraceae , Chromatography, High Pressure Liquid , Chromatography, Liquid , Pyrrolizidine Alkaloids , Tandem Mass SpectrometryABSTRACT
OBJECTIVE@#To assess the value of non-invasive prenatal testing based on cfDNA barcode-enabled single-molecule test (cfBEST) for the prenatal diagnosis of oculocutaneous albinism type I in a family.@*METHODS@#Prenatal genetic diagnosis was carried out by using the cfBEST-based method as well as invasive prenatal diagnosis through amniocentesis. The outcome of the pregnancy was followed up.@*RESULTS@#Non-invasive prenatal testing based on cfBEST showed a fetal DNA concentration of 6.6%, with the proportion of c.929_930insC (p.Arg311Lysfs*7) and c.1037-7T>A mutations being 45.7% and 0%, respectively. The posterior frequency of the negative results was 1, suggesting that the fetus carried neither of the two mutations. The result was consistent with that of invasive prenatal diagnosis, and the follow-up found that the fetus was normal.@*CONCLUSION@#Non-invasive prenatal testing based on cfBEST can be used to detect maternal and fetal genotypes in maternal cell-free DNA, which is clinically feasible.
Subject(s)
Female , Humans , Pregnancy , Albinism , Albinism, Oculocutaneous/genetics , Amniocentesis , Cell-Free Nucleic Acids , Prenatal DiagnosisABSTRACT
OBJECTIVE@#To summarize the result of genetic testing and therapeutic prospect of 2042 unrelated Chinese pedigrees affected with Duchenne/Becker muscular dystrophy (DMD/BMD) from a single center from 2005 to 2019.@*METHODS@#Peripheral blood samples of the pedigrees were collected for the detection of DMD gene variants with combined multiple ligation-dependent probe amplification (MLPA), next generation sequencing (NGS) and Sanger sequencing.@*RESULTS@#DMD and BMD have respectively accounted for 78.60% and 21.40% of the pedigrees, which included 33 female probands. Variants of the DMD gene were detected in 1986 pedigrees (97.26%). Large deletions, duplications and small-scale mutations have respectively accounted for 71.85%, 8.76% and 19.39%. Common deletions and duplications have included deletion of exons 45-50 and duplications of exon 2, while no hot spot was found with small-scale mutations. For 1595 pedigrees affected with DMD, 935 (58.62%) were hereditary and 660 (41.38%) were de novo in origin. 34.28% (700/2042) of the patients had symptoms which could be relieved by gene therapy.@*CONCLUSION@#This has been the largest single-center study of DMD pedigrees, which has attained definite diagnosis in 97.26% of the patients. The results have enabled genetic counseling and prenatal diagnosis for the affected families upon their subsequent pregnancies, enriched the spectrum of DMD gene variants, as well as facilitated study of the mechanism of DMD gene mutations and exploration of clinical treatment.
Subject(s)
Female , Humans , Pregnancy , China , Dystrophin/genetics , Exons/genetics , Gene Deletion , Genetic Testing , Muscular Dystrophy, Duchenne/therapy , Mutation , PedigreeABSTRACT
OBJECTIVE@#To carry out genetic testing and prenatal diagnosis for 29 Chinese pedigrees affected with tuberous sclerosis complex (TSC) and assess efficacy of combined next generation sequencing (NGS) and multiple ligation-dependent probe amplification (MLPA) for the diagnosis.@*METHODS@#NGS and MLPA were used in conjunct to detect variants of TSC1 and TSC2 genes among the probands of the pedigrees. Paternity test was carried out to exclude maternal DNA contamination. Prenatal diagnosis was provided to 14 couples based on the discoveries in the probands.@*RESULTS@#Twenty-seven variants were identified in the TSC1 and TSC2 genes among the 29 pedigrees, which yielded a detection rate of 93.1%. Respectively, 5 (18.5%) and 22 (81.5%) variants were identified in the TSC1 and TSC2 genes. Twelve variants were unreported previously. Prenatal diagnosis showed that five fetuses were affected with TSC, whilst the remaining nine were unaffected.@*CONCLUSION@#Above finding has expanded the spectrum of TSC1 and TSC2 gene variants. Combined NGS and MLPA has enabled diagnosis of TSC with efficiency and accuracy.
Subject(s)
Female , Humans , Pregnancy , DNA Mutational Analysis , Genetic Testing , Mutation , Prenatal Diagnosis , Tuberous Sclerosis/genetics , Tuberous Sclerosis Complex 1 Protein/genetics , Tuberous Sclerosis Complex 2 Protein/geneticsABSTRACT
OBJECTIVE: To establish a high performance liquid chromatography(HPLC) method for determining chromone components in Saposhnikoviae Radix, and compare the similarities and differences between bolting and non-bolting samples. METHODS: Agilent Ecilpse Plus C18 column(4.6 mm×250 mm,5 μm) was used for chromatographic analysis, water and methanol were used as mobile phase for gradient elution at a flow rate of 1 mL•min-1. Detection was conducted at 254 nm. The column temperature was maitained at 35 ℃ and the injection volume was 10 μL. RESULTS: There were 10 common peaks in the HPLC fingerprints of 8 batches of Saposhnikoviae Radix,with similarity above 0.94 in six batches of bolting and non-bolting samples and below 0.90 in two batches of second-stubble samples.The HPLC assay had good linearity for the four chromone components. The average recoveries for prim-O-glucosylcimifugin,cimicifugin, 5-O-methylvisamidol glycoside and sec-O-glu cosylhamaudol were 95.05%, 98.62%, 98.3% and 99.02%,and the RSDs of repeatability test were 1.60%, 1.77%, 1.24% and 3.09%, respectively. When comparing the bolting and non-bolting Saposhnikoviae Radix, the content of cimicifugin increased after bolting, the other three components and the total amount of the four chromone components did not have significant variation. CONCLUSION: The establishment of HPLC fingerprint combined with simultaneous determination of four chromone components provides a more comprehensive reference for the quality control and quality evaluation of Saposhnikoviae Radix. There are no obvious differences in chromone components between bolting and non-bolting Saposhnikoviae Radix, but there is significant difference between second-stubble and first-stubble Saposhnikoviae Radix.
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Objective::To investigate the effect of Xiaoyaosan (XYS) on hepatic lipid metabolism and steatohepatitis in ovariectomized (OVX) female SD rats and its mechanism. Method::Forty female SD rats were randomly divided into sham surgery group, OVX group, low-dose XYS group (3 g·kg-1), and high-dose XYS group (9 g·kg-1). Bilateral ovaries of rats were excised to replicate the obesity model of ovariectomized rat. After 6 weeks of intragastric administration, the change rate of body mass in each group, the levels of blood lipids and liver function of rats were detected. Hematoxylin-eosin (HE) staining and oil red staining were used to observe the hepatocyte histomorphology and the intrahepatic fatty deposits. The expressions of hepatic proinflammatory cytokines and estrogen receptor beta (ERβ) were determined by quantitative real time polymerase chain reaction (Real-time PCR). Result::Compared with sham surgery group, the change rate of body mass of OVX group was significantly increased (2-6 weeks) with the changes in the course of drug administration and the levels of serum total cholesterol (TC), alanine aminotransferase (ALT) (P<0.05), aspartate amino transferase (AST) (P<0.01), low-density lipoprotein (LDL) (P<0.05) were markedly increased too (P<0.05, P<0.01). By histological method, in OVX group, the structure of hepatic cord became disordered, and there were new lipid droplets in hepatocyte cytoplasm, transcription levels of hepatic interleukin-1β (IL-1β) and interleukin-6 (IL-6) in OVX group were significantly increased (P<0.05). Compared with OVX group, the growth rate of body weight in low-dose and high-dose XYS group showed significant decreases with the increase of the cycle of drug administration (3-6 weeks). XYS significantly reduced levels of serum TC, ALT, AST, and LDL levels of OVX rats (P<0.05) in a dose-dependent manner, while serum triglyceride (TG), alkaline phosphatase (AKP) and high-density lipoprotein (HDL) levels in the four groups showed no statistical significance, XYS can improve hepatocyte structure and steatosis of OVX rats, XYS could reduce the transcription hepatic levels of IL-6 and IL-1β of OVX rats in a dose-dependent manner (P<0.05, P<0.01), but there was no significant difference in the transcription level of tumor necrosis factor-α (TNF-α) among groups, both low and high-dose XYS can increase the transcription hepatic level of ERβ in OVX group (P<0.05, P<0.01). Conclusion::XYS can improve the growth rate of body mass, the hepatic lipid metabolism abnormalities and steatohepatitis of OVX rats. The mechanism may be related to the elevated expression of hepatic ERβ by XYS, so as to inhibit the hepatic pro-inflammatory factors expressions.
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Objective::To establish the quality control method for multi-index content determination and fingerprint of salvianolic acids. Method::Agilent ZORBAX SB-C18 (4.6 mm×250 mm, 5μm) column was adopted, with 0.1%formic acid-water as mobile phase A and 0.1%formic acid-acetonitrile as mobile phase B for gradient elution (0-30 min, 20%-21.5%B; 30-35 min, 21.5%-25%B; 35-45 min, 25%-40%B; 45-50 min, 40%-95%B). The column temperature was set at 30 ℃, the flow rate was set at 1 mL·min-1, and the detection wavelength was set at 288 nm. Relative correction factors of caffeic acid, salvianolic acid E, rosmarinic acid, lithosperic acid, salvianolic acid B and salvianolic acid Y were determined by the concentration method. The content of each indicator component of the reference extract of salvianolic acid polyphenolic acid was determined and compared with the results of the monomer reference substance by the external standard method. At the same time, the fingerprint method was established. and the similarity evaluation was carried out on 10 batches of extracts. Result::Caffeic acid, salvianolic acid E, rosmarinic acid, lithospermic acid, salvianolic acid B, and salvianolic acid Y had a good linear relationship within the respective detection mass concentration ranges (r>0.999 9). The injection precision RSD was 0.1%-1.2%, the reproducible RSD was 1.2%-1.6%, and the recovery of the six components was 82.03%-98.68%. The stability of each component in the sample solution was good within 36 h. The relative correction factors for each indicator component were determined to be caffeic acid (2.92), salvianolic acid E (1.10), rosmarinic acid (1.61), lithosperic acid (1.07), salvianolic acid B (1.00), salvianolic acid Y (0.83). The effects of different methods, concentrations, instruments, columns, wavelengths were investigated, and the measured relative correction factors were found to be suitable. The results of the calibration factor method and the monomer standard reference substance method were less different. The HPLC fingerprints of the reference extract of salvianolic acids were established, and five common characteristic peaks were determined. The chromatographic peaks were confirmed according to the reference substance. The similarity of the fingerprints of the 10 batches of extracts was higher, and the quality difference was smaller. Conclusion::The multi-index content determination method and the fingerprint method established in this study are simple, rapid, accurate and reproducible, and can be used for quality control of Salviae miltiorrhizae Radix et Rhizoma polyphenolic acid reference extract.
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@#AIM: To observe the changes of binocular eye accommodation function in correcting anisometropia by monocular orthokeratology in anisometropic children, and to explore the mechanism of regulation in the progression of myopia control by orthokeratology.<p>METHODS: It was a prospective self-control study. A total of 22 anisometropic children(44 eyes), aged 8-13 years, who wore an orthokeratology lens in only one eye were enrolled in the outpatient clinic of Hainan Provincial Eye Hospital from September 2016 to September 2018. The eyes with an orthokeratology lens had a mean spherical equivalent refraction of -2.751±1.16 diopter(D), and fellow eyes without a lens had a refraction of -0.10±0.32D. The eyes wearing orthokeratology lens were used as the lens wearing group, and the fellow eyes without a lens were used as non-wearing lens group. During the follow-up period,we measured changes of diopter difference, monocular accommodative amplitude(MAA), monocular accommodative facility(MAF)and accommodative response(AR)before wearing the lens and wearing the lens for 12mo.<p>RESULTS: The monocular accommodative amplitude and monocular accommodative facility of the wearing group before wearing the lens were lower than those of the non-wear group(<i>P</i><0.01), and the accommodative lag were higher than that of the non-wear group(<i>P</i><0.05). The monocular accommodative amplitude 15.63±1.66D after wearing the lens for 12mo was higher than that before wearing the lens 11.25±3.15D(<i>t</i>=3.63, <i>P</i><0.01), and the difference was not statistically significant(<i>t</i>=0.75, <i>P</i>=0.46)compared with the non-wearing group. The monocular accommodative facility 14.63±1.58 cyc/min after wearing the lens for 12mo was higher than that before wearing the lens 9.25±3.38cyc/min(<i>t</i>=2.83, <i>P</i>=0.01), and the difference was not statistically significant(<i>t</i>=0.38, <i>P</i>=0.71)compared with the non-wearing group. The accommodative lag 0.62±0.29D of the wearing group after 12mo was reduced compared with that before wearing the lens 1.35±0.26D(<i>t</i>=2.57, <i>P</i>=0.02),and compared with the non-wearing group, the difference was not statistical significance(<i>t</i>=0.61, <i>P</i>=0.55). The mean equivalent diopter of the non-lens group was -0.75±0.35D after 12mo, and the number of diopter group increased by -0.65±0.39D(<i>t</i>=4.24, <i>P</i><0.01). The diopter of the wearing group increased by -0.15±0.22D(<i>t</i>=2.90, <i>P</i><0.001), there was a statistically significant difference in the change of diopter between the two groups(<i>t</i>=5.30, <i>P</i><0.01). There was no statistically significant difference in the change of the accommodation before and after 12mo in the non-wear group(<i>P</i>>0.05).<p>CONCLUSION: The accommodation function of anisometropic children in correcting anisometropia by monocular orthokeratology was significantly improved compared with that before wearing the lens and was consistent with the contralateral eyes without lens group. The refractive state of the group wearing orthokeratology lens was more stable, and the contralateral eyes without lens gradually showed mild myopia refractive state, but the accommodation did not change significantly.
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Analgesia for battlefield war wound is the beginning of the war wound analgesia management system, and effective analgesia for battlefield war wound plays a significant role in keeping the fighting capacity. Special combat is characterized by the complexity and diversity of combat tasks, small scale of combat units, and limited medical service, resulting in a high incidence of war trauma. Therefore, the battlefield war wound analgesia for special combat personnel has prominent demands. In this paper, we analyzed the characteristics and current situation of battlefield war wound analgesia for special combat personnel, and discussed how to effectively carry out battlefield war wound analgesia, so as to provide reference for improving the fighting capacity of special combat personnel.
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@#AIM: To observe the changes of binocular eye accommodation function in correcting anisometropia by monocular orthokeratology in anisometropic children, and to explore the mechanism of regulation in the progression of myopia control by orthokeratology.<p>METHODS: It was a prospective self-control study. A total of 22 anisometropic children(44 eyes), aged 8-13 years, who wore an orthokeratology lens in only one eye were enrolled in the outpatient clinic of Hainan Provincial Eye Hospital from September 2016 to September 2018. The eyes with an orthokeratology lens had a mean spherical equivalent refraction of -2.751±1.16 diopter(D), and fellow eyes without a lens had a refraction of -0.10±0.32D. The eyes wearing orthokeratology lens were used as the lens wearing group, and the fellow eyes without a lens were used as non-wearing lens group. During the follow-up period,we measured changes of diopter difference, monocular accommodative amplitude(MAA), monocular accommodative facility(MAF)and accommodative response(AR)before wearing the lens and wearing the lens for 12mo.<p>RESULTS: The monocular accommodative amplitude and monocular accommodative facility of the wearing group before wearing the lens were lower than those of the non-wear group(<i>P</i><0.01), and the accommodative lag were higher than that of the non-wear group(<i>P</i><0.05). The monocular accommodative amplitude 15.63±1.66D after wearing the lens for 12mo was higher than that before wearing the lens 11.25±3.15D(<i>t</i>=3.63, <i>P</i><0.01), and the difference was not statistically significant(<i>t</i>=0.75, <i>P</i>=0.46)compared with the non-wearing group. The monocular accommodative facility 14.63±1.58 cyc/min after wearing the lens for 12mo was higher than that before wearing the lens 9.25±3.38cyc/min(<i>t</i>=2.83, <i>P</i>=0.01), and the difference was not statistically significant(<i>t</i>=0.38, <i>P</i>=0.71)compared with the non-wearing group. The accommodative lag 0.62±0.29D of the wearing group after 12mo was reduced compared with that before wearing the lens 1.35±0.26D(<i>t</i>=2.57, <i>P</i>=0.02),and compared with the non-wearing group, the difference was not statistical significance(<i>t</i>=0.61, <i>P</i>=0.55). The mean equivalent diopter of the non-lens group was -0.75±0.35D after 12mo, and the number of diopter group increased by -0.65±0.39D(<i>t</i>=4.24, <i>P</i><0.01). The diopter of the wearing group increased by -0.15±0.22D(<i>t</i>=2.90, <i>P</i><0.001), there was a statistically significant difference in the change of diopter between the two groups(<i>t</i>=5.30, <i>P</i><0.01). There was no statistically significant difference in the change of the accommodation before and after 12mo in the non-wear group(<i>P</i>>0.05).<p>CONCLUSION: The accommodation function of anisometropic children in correcting anisometropia by monocular orthokeratology was significantly improved compared with that before wearing the lens and was consistent with the contralateral eyes without lens group. The refractive state of the group wearing orthokeratology lens was more stable, and the contralateral eyes without lens gradually showed mild myopia refractive state, but the accommodation did not change significantly.
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@#AIM: To investigate the temperary changes in the refraction, axial length, and choroidal thickness after a Chinese herb(Zhujing formula)feeding or injection of ranibizumab in a guinea pig myopia model.<p>METHODS: A Guinea pigs model of form-deprived(FD)myopia were randomly divided into 3 groups: Zhujing formula group, ranibizumab group and saline group(<i>n</i>=20 for each group). Zhujing formula group were fed daily with Zhujing formula solution 3.285g/(kg·d)(1.5mL/d)for 1wk. Ranibizumab group were treated with(intravitreal injections of 0.02mg)ranibizumab at the first day. Saline group were fed with 1.5mL 0.9% saline at the first day. The refraction(Diopter), axial length and choroidal thickness were measured before and at day 1, 3 and 7d postoperative. <p>RESULTS: The spherical equivalent(SE), axial length and choroidal thickness in ranibizumab group showed no significant trend after intravitreal injection(<i>P</i>>0.05). However, SE and axial length showed trendency to greater myopic shift in the Zhujing formula group and the saline group(<i>P</i><0.05). The effect began to appear on the first day after administration, achieved the maximum effect after 3d, and faded completely until 7d. On the first day after administration, the diopter and the axial length in ranibizumab group showed the lowest among three groups(<i>P</i><0.05), and choroid thickness showed the thickest among three groups(<i>P</i><0.05). At 3d after administration, the diopter and the axial length in the saline group showed the lowest among three groups, and choroid thickness showed the thickest among three groups(<i>P</i><0.05). There was no significant difference in the parameters among the three groups at 1wk after administration(<i>P</i>>0.05).<p>CONCLUSION: There is a temperary choroidal thickening of the form deprivation myopia recovery period. The ranibizumab inhibited the thickening of the choroid in the whole recovery period of form deprivation myopia, Zhujing formula slight inhibited the thickening at 3d, and the all change persisted only for 1wk.
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Objective@#To report a case of Carvajai syndrome caused by a spontaneous mutation in the desmoplakin (DSP) gene.@*Methods@#Clinical data were collected form a patient with Carvajal syndrome in Department of Dermatology, The First Affiliated Hospital of Zhengzhou University. Peripheral blood samples were obtained from the proband, his parents and 100 unrelated healthy controls, and blood genomic DNA was extracted. The ion torrent PGM second-generation sequencing platform was used to detect sequence variations in coding regions of exons in skin disease-related genes in the proband and his parents, and the pathogenic variation was verified by PCR-Sanger sequencing.@*Results@#The proband clinically presented with woolly hair, diffuse palmoplantar keratoderma, onychodysplasia, hypodontia and sinus arrhythmia as shown by electrocardiogram. Gene sequencing revealed a heterozygous missense mutation c.1790C>T (p.Ser597Leu) in exon 14 of the DSP gene in the proband, resulting in the substitution of serine by leucine at amino acid position 597. No mutation was identified in the proband′s parents or the 100 healthy controls, so the mutation in the proband is spontaneous. The patient was finally diagnosed with Carvajal syndrome according to the clinical manifestations, gene detection and auxiliary examination results.@*Conclusion@#The heterozygous missense mutation C.1790C>T (p.Ser597Leu) of the DSP gene may be the pathogenic mutation for the clinical phenotype of the patient.
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The blood-brain barrier is located between blood vessels and brain parenchyma and is a composite tissue composed of brain capillary endothelial cell,astrocyte end foot,pericyte,basement membrane and their tight connections.The blood-brain barrier acts as an important barrier between the blood-brain. It strictly restricts the exchange of blood and brain tissue. On the one hand,it allows the nutrients required by the brain tissue to enter the barrier. On the other hand,the substance that damages the brain tissue is restricted from entering the barrier to maintain the stability of the neuron microenvironment. The barrier function of the blood-brain barrier also limits the concentration of drugs that treat certain diseases into the brain or reduces the concentration of drugs into the brain,affecting the treatment of certain diseases.Studies have found that Chinese medicine has the effect of regulating the permeability of the blood-brain barrier. For example, Chinese herbal medicines such as Moschus,borneol,Styorax,and Benzoinum can increase the permeability of the blood-brain barrier,and can help its medicine into the brain. Its role is mainly related to the reduction of the blood-brain barrier tight junction,the inhibition of the blood-brain barrier transporter,and the inhibition of the active transport of ion channels.Orifice-opening medicinal such as borneol and Moschus can reduce the permeability of the blood-brain barrier.Certain tonifying and replenishing medicinal such as Ginseng Radix et Rhizoma,Astragali Radix,and Paeoniae Radix Alba can also reduce the permeability of the blood-brain barrier to protect the blood-brain barrier and brain tissue.Its role is mainly related to the regulation of inflammatory reactions,increased expression of tight junction-associated proteins,and promotion of vascular endothelial proliferation.The two-way regulation of blood-brain barrier permeability by traditional Chinese medicine(TCM) may be the basis for the prevention and treatment of brain diseases by TCM.In this paper,we systematically sort out the relevant literatures on the study of the permeability of blood-brain barrier and its mechanism of action in Chinese medicine in recent years,and carry out in-depth combing and summary,in order to provide a scientific basis for the clinical application of TCM to prevent and treat brain diseases.
ABSTRACT
The purpose of this study was to investigate the feasibility of the salvianolic acids reference extract for quality control for Salvia miltiorrhiza and salvianolic acids for injection. An Agilent ZORBAX SB-C18( 4. 6 mm×250 mm,5 μm) column was used with mobile phase consisting of 0. 1% formic acid-water and 0. 1% formic acid-acetonitrile in gradient elution procedure. The column temperature was 30 ℃; the flow rate was 1 m L·min-1; and the detection wavelength was 288 nm. The content of rosmarinic acid,lithospermic acid and salvianolic acid B in S. miltiorrhiza was determined by using the salvianolic acids reference extract as control substance. The content of caffeic acid,salvianolic acid E,rosmarinic acid,lithospermic acid,salvianolic acid B,and salvianolic acid Y in the salvianolic acids for injection was also determined. The linear relationship between chemicals was good( r>0. 998 9),and the injection precision RSD was 0. 30%-0. 90%. The sexual RSD is between 1. 4% and 3. 0%,and the RSD of the reproducibility of the extract is between 2. 1% and 5. 2%. The recovery rate of the three components in S. miltiorrhiza was 96. 80%-99. 20%,and the recovery rate of the six components in salvianolic acids for injection was 88. 90%-107. 5%. The solution of S. miltiorrhiza and salvianolic acids for injection were stable within 48 h. A total of 8 batches of S. miltiorrhiza and injection were determined by the reference extract,and the difference was smaller than that measured by the monomer control. This study preliminarily verified that the salvianolic acids reference extract can be used as a substitute for the monomer control for the quality control of S. miltiorrhiza and salvianolic acids for injection.
Subject(s)
Alkenes/analysis , Chromatography, High Pressure Liquid , Drugs, Chinese Herbal/standards , Polyphenols/analysis , Quality Control , Reproducibility of Results , Salvia miltiorrhiza/chemistryABSTRACT
Objective To establish fingerprint of Jinsangqi Kangdu Dropping Pills by HPLC; To control the quality of the preparation. Methods Waters XSELECT CSH-C18 chromatographic column (4.6 mm × 150 mm, 5 μm) was used and eluted with acetonitrile - 0.1% phosphoric acid solution gradient at the flow rate of 1.0 mL/min. The detection wavelength was 260 nm with column temperature of 30 ℃. Using calycosin-7-O-β-D-glucopyranoside, rutin, liquiritin, hyperoside, quercetin and ammonium glycyrrhizinate as the object references, ten batches of Jinsangqi Kangdu Dropping Pills were tested and analyzed by similarity comparison.Results Fringerprint spectrum of Jinsangqi Kangdu Dropping Pills had 24 common peaks in total, and characteristic spectrums of Hypericum Perforatum, Mori Cortex, Astragali Radix and Glycyrrhizae Radix et Rhizoma had been found, while similarity of HPLC fingerprint was more than 0.9 among those batches of samples. Conclusion Using HPLC fingerprint can evaluate the Jinsangqi Kangdu Dropping Pills quality totality,which can provide references for improving the quality control of the preparation.