Effect of miR-96-5p targeting IRS1 on apoptosis of PC12 cells induced by aluminum maltol / 中华劳动卫生职业病杂志

Objective: To investigate the effect and mechanism of miR-96-5p on apoptosis of PC12 cells induced by maltol aluminum. Methods: In January 2021, PC12 cells at logarithmic growth phase were divided into blank control group and low, medium and high dose group. Cells in each group were treated with 0, 100, 200 and 400 μmol/L maltol aluminum for 24 hours respectively. Cells were collected and cell apoptosis rates were detected by flow cytometry, miR-96-5p and insulin receptor substrate 1 (IRS1) mRNA expressions were detected by qRT-PCR, and the protein expression levels of cysteine protease 3 (Caspase3) 、activated cysteine protease 3 (Cleaved-caspase3) 、IRS1、phosphorylated protein kinase B (p-AKT) and phosphorylated glucose synthesis kinase 3β (p-GSK3β) were detected by western blotting. The target binding relationship between miR-96-5p and IRS1 was detected by double luciferase reporter gene experiment. The miR-96-5p inhibitor cells and negative control cells were constructed after transfecting PC12 cells with miR-96-5p inhibitor for 24 hours. The cells were divided into blank control group, negative control group, aluminum exposure group, aluminum exposure+negative control group, aluminum exposure+miR-96-5p inhibition group, and miR-96-5p inhibition group. After transfecting PC12 cells with miR-96-5p inhibition and IRS1 siRNA for 24 h, the cells were divided into aluminum exposure+miR-96-5p inhibition+negative control group and aluminum exposure+miR-96-5p inhibition+IRS1 inhibition group. The control group was cultured in complete culture medium, and cells in the aluminum exposure group were treated with 200 μmol/L maltol aluminum for 24 hours. Cells in each group were collected and the apoptosis rate, miR-96-5p and IRS1 mRNA expression levels, as well as protein expression levels of Caspase3, Cleaved-caspase3, IRS1, p-AKT, and p-GSK3β were measured. Results: After 24 hours of exposure, compared with blank control group and low-dose group, the apoptosis rates, relative expressions of Caspase3 and Cleaved-caspase3 proteins, and relative expressions of miR-96-5p in the medium and high-dose groups of PC12 cells were significantly increased, while the relative expression levels of IRS1 mRNA, IRS1, p-AKT and p-GSK3β proteins were significantly decreased (P<0.05). Targetscan prediction and double luciferase report experiment both proved that IRS1 was a direct target gene of miR-96-5p. In the transfection experiment, compared with the aluminum exposure group, the apoptosis rate, the relative expressions of Caspase3 and Cleaved-caspase3 proteins, the relative expression of miR-96-5p in the aluminum exposure+miR-96-5p inhibition group were significantly decreased, while the relative expression levels of IRS1 mRNA and IRS1, p-AKT and p-GSK3β proteins were significantly increased (P<0.05). In the IRS1 low expression experiment, compared with the aluminum exposure+miR-96-5p inhibition+negative control group, the apoptosis rate, the relative expressions of Caspase3 and Cleaved-caspase3 proteins in the aluminum exposure+miR-96-5p inhibition+IRS1 inhibition group were significantly increased, while the relative expression levels of IRS1 mRNA and IRS1, p-AKT and p-GSK3β proteins were significantly decreased (P<0.05) . Conclusion: The increased expression of miR-96-5p and the targeted inhibition of IRS1 may be one of the mechanisms of apoptosis of PC12 cells induced by maltol aluminum exposure.

Chemical constituents from fruits of Morinda citrifolia and their inhibitory effects on proliferation of synoviocytes in vitro / 中国中药杂志

The chemical constituents from the fruits of Morinda citrifolia were systematically explored by chromatographic fractionation methods including silica gel, octadecylsilyl(ODS) gel, Sephadex LH-20 gel, and preparative high performance liquid chromatography(pre-HPLC). The chemical structures of all isolated compounds were identified on the basis of their physicochemical properties, spectroscopic analyses, as well as the comparisons of their physicochemical and spectroscopic data with the reported data in literature. As a result, 22 isolated compounds from the 90% ethanol extract of the fruits of M. citrifolia were identified, which were moricitritone(1), 2'-deoxythymidine(2), cyclo-(L-Pro-L-Tyr)(3), methyl-5-hydroxy-2-pyridinecarboxylate(4), methyl pyroglutamate(5), bisbenzopyran(6), epipinoresinol(7), 3, 3'-bisdemethyl pinoresinol(8), 3, 3'-bisdemethyltanegool(9), trimesic acid(10), crypticin B(11), kojic acid(12), vanillic acid(13), protocatechoic acid(14), 5-hydroxymethyl furfural(15), blumenol A(16), 1-O-(9Z, 12Z-octadecadienoyl) glycerol(17), mucic acid dimethylester(18), methyl 2-O-β-D-glucopyranosylbenzoate(19), 2-phenylethyl-O-β-D-glucoside(20), scopoletin(21), and quercetin(22). Among them, compound 1 was a new pyrone derivative, compounds 2, 4-7, 10-12, and 17 were isolated from the plants belonging to Morinda genus for the first time, and compound 18 was obtained from M. citrifolia for the first time. Moreover, on the basis of testing the activities of all isolated compounds on inhibiting the proliferation of synovial fibroblasts in vitro by MTS assay, the anti-rheumatoid arthritis activities of all isolated compounds were initially evaluated. The results showed that compounds 1-6, 9, 19, and 20 exhibited remarkable anti-rheumatoid arthritis activities, which displayed the inhibitory effects on the proliferation of MH7A synovial fibroblast cells with the IC_(50) values in the range of(3.69±0.08) to(168.96±0.98) μmol·L~(-1).

Network Meta-analysis of Qi-benefiting and blood-activating Chinese patent medicines against ischemic stroke / 中国中药杂志

This study aimed to compare the efficacy of Qi-benefiting and blood-activating Chinese patent medicines in the treatment of ischemic stroke with network Meta-analysis. CNKI, Wanfang, VIP, SinoMed, PubMed, EMbase, and Cochrane Library were searched from database inception to October 2022 for randomized controlled trial(RCT) on 11 Qi-benefiting and blood-activating Chinese patent medicines in the treatment of ischemic stroke. The risk of bias plot was made by RevMan 5.3, and network Meta-analysis and efficacy ranking were performed by Stata 17. Ninety-two RCTs were included, involving 10 608 patients. According to the network Meta-analysis, in terms of the clinical total effective rate, surface under the cumulative ranking curve(SUCRA) as followed: Qilong Capsules+conventional western medicine>Zhishe Tongluo Capsules+conventional western medicine>Longshengzhi Capsules+conventional western medicine>Naoxintong Capsules+conventional western medicine>Tongsaimai Tablets+conventional western medicine>Naoan Capsules+conventional western medicine>Naoluotong Capsules+conventional western medicine>Xiaoshuan Changrong Capsules+conventional western medicine>Dengzhan Shengmai Capsules+conventional western medicine=Tongxinluo Capsules+conventional western medicine>Naomaitai Capsules+conventional western medicine. In terms of the improvement in National Institute of Health stroke scale(NIHSS) score, SUCRA as followed: Longshengzhi Capsules+conventional western medicine>Naomaitai Capsules+conventional western medicine>Naoxintong Capsules+conventional western medicine>Dengzhan Shengmai Capsules+conventional western medicine>Xiaoshuan Changrong Capsules+conventional western medicine>Naoluotong Capsules+conventional western medi-cine>Tongxinluo Capsules+conventional western medicine>Naoan Capsules+conventional western medicine>Qilong Capsules+conventional western medicine. In terms of safety, the overall adverse reactions/events of Qi-benefiting and blood-activating Chinese patent medicines + conventional western medicine were less than those of the control group. Since Qilong Capsules+conventional western medicine and Zhishe Tongluo Capsules+conventional western medicine were preferred to improve the clinical total effective rate. In the aspect of improving NIHSS score, Longshengzhi Capsules+conventional western medicine and Naomaitai Capsules+conventional western medicine were first options. Due to the lack of direct comparisons between drugs, the overall quality of RCT was not high, so more studies are needed to verify the strength of the evidence.

Expression of miR-3189-3p in renal carcinoma and its effect on the proliferation and invasion of renal carcinoma cells / 国际外科学杂志

Objective:To investigate the expression difference of miR-3189-3p in renal cancer tissue and adjacent tissue and its effect on the biological function of renal cancer cells.Methods:quantitative real-time polymerase chain reaction (qRT-PCR) was used to detect the expression level of miR-3189-3p in renal cancer tissues and adjacent tissues, renal cancer cell lines (Caki-1, ACHN, A498, OS-RC-2) and normal renal tubular epithelial cells HK-2. miR-NC or miR-3189-3p mimics were transfected into renal cancer cells with the lowest expression of miR-3189-3p, respectively, named miR-NC group and miR-3189-3p group. The effects of miR-3189-3p on the proliferation and invasion of renal cancer cells were detected by CCK-8 method and Transwell migration experiment. miRanda and miRTarBase software was used to predict the downstream gene of miR-3189-3p. The dual luciferase reporter gene experiment was used to verify the downstream gene of miR-3189-3p. qRT-PCR and Western blotting were used to detect the expression of miR-3189-3p downstream gene. Measurement data were expressed as mean ± standard deviation ( ± s), and t-test was used for comparison between groups. Results:The relative expression of miR-3189-3p in renal cancer tissue and paracancerous tissue was 1.97±0.61 and 6.19±0.73, respectively, and the relative expression of miR-3189-3p in renal cancer tissue was lower than that in paracancerous tissue ( P<0.01). The relative expression of miR-3189-3p in renal cancer cell lines was lower than that in HK-2 cells ( P<0.05). The relative expression of miR-3189-3p in OS-RC-2 cells was the lowest ( P<0.01). The relative expression levels of miR-3189-3p in OS-RC-2 cells in the miR-NC group and miR-3189-3p group were 1.01±0.11 and 9.27±1.43, respectively, and the relative expression levels of miR-3189-3p in the miR-NC group significantly lower than the miR-3189-3p group ( P<0.01). Compared with the miR-NC group, the proliferation ability of OS-RC-2 cells with high expression of miR-3189-3p was significantly reduced ( P<0.05). The numbers of penetrating cells in the miR-NC group and miR-3189-3p group were 165.40±17.02 and 41.07±6.36, respectively, and the invasive ability of OS-RC-2 cells in the miR-3189-3p group was significantly reduced ( P<0.01). The target gene of miR-3189-3p is Aquaporin 3 ( AQP3) and miR-3189-3p can target AQP3 mRNA ( P<0.01). Compared with the miR-NC group, the expression of AQP3 gene in the high-expressing miR-3189-3p cells was significantly reduced at both the mRNA level and the protein level ( P<0.01). Conclusions:The expression of miR-3189-3p is down-regulated in renal cell carcinoma. High expression of miR-3189-3p can significantly inhibit the proliferation and invasion of renal cell carcinoma OS-RC-2 cells. The molecular mechanism is that miR-3189-5p targets and inhibits the expression of AQP3 gene.

GAO Shu-zhong's clinical experience in "seeking yin from yang needling method" based on "qi street" and "four seas" theories / 中国针灸

The paper introduces professor GAO Shu-zhong's understanding on "seeking yin from yang needling method" and its clinical application on the basis of "qi street" and "four seas" theories. Through professor GAO's clinical practice for years, he integrates and extendes the theories of "seeking yin from yang", "qi street" and "four seas" in Huangdi Neijing (The Yellow Emperor's Inner Classic). In this specific acupuncture method, in reference with the theories of "qi street" and "four seas", acupuncture is exerted on yang part of body, e.g. the back and lumber region to treat the diseases of yin parts, e.g. the chest and abdomen, which is differentiated as yin-yang imbalance in pathogenesis. In order to fully explain the clinical curative effect of "seeking yin from yang needling method", the common diseases in clinic, e.g. the disorders of heart, spleen and stomach systems, as well as the gynecology are taken as examples in the paper.

Discussion on Necessity of Therapeutic Drug Monitoring for Advanced Maternal Aged Multiparous Women after the "Universal Two-Child Policy" / 中国药学杂志

OBJECTIVE: To investigate whether there is necessity for carrying out pharmaceutical care for advanced maternal aged multiparous women as the number of this special population in our country growing greatly under the "universal two-child" policy. METHODS: We compared the pregnancy outcomes of the advanced maternal aged multipara with advanced maternal aged primipara and right aged multipara to investigate the characteristics of advanced maternal aged pregnancy outcomes. Through analyzing the importance and urgency of pharmaceutical care for advanced maternal aged multipara, we explored current status and challenges, and analyzed pregnancy drug risk category and pregnancy drug registry. RESULTS: Compared with advanced maternal aged primipara and right aged multipara, pregnancy outcomes and exposure risk are different in advanced maternal aged multipara. Pregnancy drug risk category and pregnancy drug registry are crucial measures in observing study of pharmaceutical care. CONCLUSION: It is necessary to carry out pharmaceutical care for advanced maternal aged multipara. Pregnancy drug risk category and pregnancy drug registry can provide basis for designing interventional study of pharmaceutical care.

Investigation on Labeling and Drug Strategy on Dermatologic Drugs for Pregnant Women / 中国药学杂志

OBJECTIVE: The aim of this study is to investigate labelings on dermatologic drugs for pregnant women and provide qualitative and quantitative pharmaceutical support for clinical use. METHODS: Labelings and formularies on pregnancy of topical drugs were analyzed and sorted according to classification on pregnancy use. Transdermal abilities of the drugs not forbidden nor avoided were evaluated through ACD/LAB 6.0 software and Potts-Guy formulation. Through TOXNET database and dose conversion equation, toxicities on animals were collected and human doses for pregnant women were calculated. RESULTS: In dermatologic drugs, there are 16 drugs forbidden, 8 not recommended/avoided/should not be used, 14 used with caution/weighed pros and cons, 7 used under instruction, 16 unclear or with no statement. In topical drugs not forbidden nor avoided, there are 9 drugs' logKp above-5, butenafine and sertaconazole with strongest transdermal abilities, 7 drugs' logKp influenced under pH5.5 or pH7.0, with a decline in logK'p compared with logKp, still 15 drugs not influenced by pH, 7 drugs' toxicities on animals unknown, 14 drugs' pregnancy human doses under 10 mgkg-1. CONCLUSION: Currently,only a few topical drugs' instructions on pregnancy are clear. With properties and animal experiments, better pharmaceutical support can be provided for clinical use on qualitative or quantitative reference.

Pharmaceutical Analysis of Judicial Precedents Involving Off-label Drug Use / 中国药学杂志

OBJECTIVE: To analyze 13 judicial precedents involving off-label drug use and explore the legal interpretation on off-label drug use in China in order to provide experience for establishment of off-label drug use and clinical application. METHODS: Based on the law databases (China Judgements Online, Chinalawinfo, Jufaanli, Itslaw), 13 cases were searched and screened involving legal off-label drug use. The relationship was investigated and discussed between different results and characteristics of the 13 cases. RESULTS: In 13 cases, there are 2 cases probably reasonable for off-label use, 2 cases unreasonable but not correlated with patients′ outcomes, 9 unreasonable and with a causal relationship with patients′ outcomes. In the 9 unreasonable cases, there are 4 cases without sufficient evidence, 3 cases without informed consent, 1 case lack of monitoring after off-label use, 1 case with idiosyncratic reaction, and 1 case not consistent with the label of the drug used. CONCLUSION: Major deficiencies of off-label drug use in China are without sufficient evidence, lack of informed consent and with uncompleted system on off-label drug use. Establishing more completed and detailed system, investigating enough clinical evidence, better informed consent and monitoring after off-label use are important measurements to ensure safety on off-label drug use.

Progress in genetic research on pachydermoperiostosis / 中华医学遗传学杂志

Pachydermoperiostosis is a rare genetic disease characterized by finger clubbing, periostosis, cutis verticis gyrata and pachydermia accompanied by acroosteolysis and hyperhidrosis. Recently, two susceptibility genes, HPGD and SLCO2A1, have been identified, whose protein products are involved in the transportation of prostaglandin and metabolism underlying pachydermoperiostosis. Here the genetic basis of pachydermoperiostosis and its correlation with its clinical phenotype are reviewed, which may provide a reference for basic research and clinic diagnosis for the disease.

Publication and effects of FDA's new rule for pregnant and lactational women / 中国药学杂志

OBJECTIVE: To investigating the Pregnancy, Lactation, and Reproductive Potential: Labeling for Human Prescription Drug and Biological Products-Content and Format, and we provide lessons for China's future revolution for the use of drug for pregnant women. METHODS: We analyzed and summarized the materials about the new system, and discussed history, letter risk categorization system, the preparation, new system, the effects of new rule. RESULTS: The new rule eliminates letter risk categorization system (ABCDX). The new system not only combines different parts of the previous rule but also adds a new part-"Females and Males of Reproductive Potential". CONCLUSION: Clinical pharmacists will work better with the new rule, thus should take lessons of FDA's revolutions for rules on pregnancy, and take steps to improve the safety measures for pregnant women.

Effect of solvent pH on properties and clinical use of four drugs in gynecology and obstetrics / 中国药学杂志

OBJECTIVE: To investigate the effect of solvent pH on the physical/chemical properties and clinical use of four drugs commonly used in gynecology and obstetrics, including aminophylline, ambroxol, labetalol and ritodrine, through simulation and evidence-based evaluation to provide theoretical guidance and quantitative reference for clinical use. METHODS: By searching PubMed compound and Martindale: The Complete Drug Reference, the physical/chemical and clinical information of the four drugs were obtained. The logP, pKa, logD, and solubility were simulated using ACD/LAB 6.0 software. RESULTS: The solvent pH had effects on the logD and solubility of the four drugs to a certain degree in an exponential manner. The four drugs are compatible with dextrose injection or 0.9% sodium chloride injection, but special care needs to be taken in the clinical use. CONCLUSION: Solvent pH has influence on the dissolution balance of the four drugs. Simulation of the physical/chemical properties of drugs will provide theoretical guidance and reference for clinicians with more detailed information.

Clinical study of Butylphthalide combined with Xue Shuan Tong on serum inflammatory factors and prognosis effect of patients with cerebral infarction

To investigate the effect of Butylphthalide and Xue Shuan Tong on serum inflammatory factors and prognosis of patients with cerebral infarction. One hundred and twenty patients with acute cerebral infarction were randomly divided into control group, Butylphthalide group and Xue Shuan Tong group, with 40 patients in each group. Conventional therapy was performed in the control group; On the basis of conventional therapy, 100m1 Butylphthalide intravenously twice a day was administrated among patients in Butylphthalide group; On the basis of conventional therapy, 250m1 0.9% NaC1 intravenously once a day was conducted among patients in Xue Shuan Tong group. A treatment course of continuous 7 days was takin in the three groups. The serum levels of IL-2 and CGRP were detected for patients in the three groups before and after treatment. Carotid plaque thickness and size as well as intima-media thickness were detected by ultrasonic testing for patients in three groups before treatment and 90 days after follow-up. The NIHSS, Barthel and MRS scoring were performed for all the patients after 90-day follow-up to evaluate the prognosis. After treatment, differences in the levels of IL-2 and CGRP for patients in the three groups showed statistical significance [P<0.05], while the levels of IL-2 and CGRP in Xue Shuan Tong group were significantly higher than those in the other two groups [P<0.05]. After 7-day treatment, plaque size and thickness in Xue Shuan Tong group and Butylphthalide group were significantly reduced, compared with those before treatment [P<0.05], but no significant differences was shown in the plaque size and thickness between Xue Shuan Tong group and Butylphthalide group [P>0.05] .The CA-IMT in Xue Shuan Tong group and Butylphthalide group was significantly reduced after treatment, and that in Butylphthalide group was significantly larger than that in Xue Shuan Tong group [P<0.05]. After 90-day follow-up, NIHSS scores in Butylphthalide group were significantly less than those in the other two groups [P<0.05]. After 90-day follow-up, Barthel scores in Butylphthalide group and Xue Shuan Tong group were significantly larger than those in control group [P<0.05], while differences between Butylphthalide group and Xue Shuan Tong group indicated no statistical significance [P>0.05]. There were significant differences in MRS scores among patients in the three groups after 90-day follow-up [P<0.05]. Butylphthalide and Xue Shuan Tong are clinically effective in treating acute cerebral infarction. Butylphthalide has significant efficacy in inhibiting inflammation and improving prognosis of neurological function, while Xue Shuan Tong has obvious effect in improving carotid intima-media thickness

Synthesis and identification of rutin complete antigen and analysis its immunogenicity / 中国中药杂志

<p><b>OBJECTIVE</b>Synthesis and identification of complete antigen of rutin, the traditional Chinese medicine active ingredient, and develop rapid detection of rutin using enzyme-linked immunoassay method (ELISA). Immunogenicity of the complete antigen was also studied.</p><p><b>METHOD</b>Prepare the complete antigen by sodium periodate solution and identified by UV scanning and SDS-PAGE test. Male New Zealand white rabbits were immunized by the antigen to obtain the antiserum.</p><p><b>RESULT</b>The results of UV analysis showed that the coupling ratio of complete antigen is 13: 1. SDS-PAGE display of the artificial antigen was delayed compared with bovine serum protein. The titer of rutin antibody is 1:4 000. The sensitivity of IC50 was 5.37 mg x L(-1), the lowest detection limit was 1 mg x L(-1), the average recovery was 102%, the intra and interspecific RSD were less than 10%, cross-reactivity rate of antibodies and other analogs were less than 1%.</p><p><b>CONCLUSION</b>Rutin complete antigen was synthesized successfully, and the rapid detection of rutin by ELISA method was successfully established.</p>

Correlation of 53BP1 gene mutation with prostatic adenocarcinoma / 中华病理学杂志

<p><b>OBJECTIVE</b>To study the incidence of 53BP1 gene mutations in prostatic adenocarcinoma and benign prostatic hypertrophy, and to analyze the relationship between 53BP1 mutations and prostatic adenocarcinoma.</p><p><b>METHODS</b>Genomic DNA extraction, PCR amplification and gene sequencing were used to detect the occurrence of 53BP1 gene mutations in 50 cases of prostatic adenocarcinoma. Ten cases of benign prostatic hypertrophy were included as controls.</p><p><b>RESULTS</b>Amongst the 50 cases of prostatic adenocarcinoma studied, 15 showed genetic alterations of 53BP1, including 4 cases with single nucleotide polymorphism. The mutation rate was 24.0% (12/50). Seven of the 53BP1 mutations detected represented missense mutations and none of them were situated in functionally important domains. The other 4 were synonymous mutations, in which c. 4760G > T was situated in Tudor domain. There was no obvious correlation between 53BP1 gene mutations and the various clinicopathologic parameters of prostate adenocarcinoma (P>0.05).</p><p><b>CONCLUSION</b>Certain percentage of prostatic adenocarcinoma harbors 53BP1 mutations which may be involved in the carcinogenesis.</p>

Cellulose hydrolysis and ethanol production by a facultative anaerobe bacteria consortium H and its identification / 生物工程学报

The recalcitrance of lignocellulosic biomass makes its hydrolysis by cellulases less effective, and the consolidated bioprocessing (CBP) strategy that combines enzyme production, cellulose hydrolysis and fermentation, particularly the synergetic role of different microbes in attacking cellulose component could be a solution. In this article, a facultative anaerobe microbial consortium named H was isolated, which exhibited high stability even after 30 subcultures, with pH ranging from 6 to 9. Within three days, 0.5 g filter paper immerged in 100 mL PCS buffer was completely degraded, and 1.54 g/L ethanol was produced, correspondingly. Further analysis on the component of the microbe consortium was carried out though 16S rDNA and DGGE, and Clostridium thermosuccinogene, Clostridium straminisolvens and Clostridium isatidis that can directly convert cellulose to ethanol were identified, indicating that Clostridium spp. played important role in cellulose degradation through the synergistic coordination of different species, and the characterization of the consortium will benefit the analysis of the underlying mechanisms as well as the optimization of the CBP process for more efficient cellulose degradation and ethanol production.

Analysis for clinical and genetic characteristics of a sporadic FFI case / 中华实验和临床病毒学杂志

<p><b>OBJECTIVE</b>To report and study a case of sporadic family fatal insomnia (SFFI) on its.</p><p><b>METHODS</b>Investigate clinical characteristics and family disease history of a suspect FFI patient. His clinical characteristic was analyzed, he and his 14 family members genomic DNA was extracted by standard techniques from their and blood detected with polymerase chain reaction (PCR) method and DNA sequencing to find out his prion protein (PrP) gene mutation. The patient's CSF was detected with Western-Blot method for 14-3-3 brain protein.</p><p><b>RESULTS</b>The patient was diagnosed as an sporadic FFI by his developed sleep disturbance and changes in sleep-awake rhythm, motor abnormalities, mental disorder, dementia, autonomic dysfunction; his family history; his 14-3-3 brain protein-positive (CSF) and analysis results of his PrP gene (codon point mutation D178N and methionine homozygosity at position 129M/M). Suggesting that in the future to identify CJD and FFI patients, screening should focus on clinical symptoms and laboratory results. The PrP gene of 14 family members did not appear Mutation, and there is no person suffering from the same disease.</p><p><b>CONCLUSIONS</b>The case was diagnosed as a sporadic familial fatal insomnia. Analysis of suspicious patients' genomic DNA for PrP gene mutation might be very important for FFI diagnosis because there exist many difficulties in clinical laboratory evaluation. This patient might be the first SFFI patient reported in China and the case finding might have momentousness in clinical and basical study.</p>

Relationship between polymorphisms of interleukin 10 promoter and serum levels of lipoprotein in the Chinese Han population / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To study the relationship between polymorphisms of interleukin 10 (IL10QX) promoter and serum levels of lipoprotein in the healthy Chinese Han population.</p><p><b>METHODS</b>PCR restriction fragment length polymorphism assay was used to detect the distribution of genotypes of IL10 -592,-819,-1082 in 200 healthy Chinese Han subjects. Serum levels of total cholesterol (TC), triglyceride (TG), high density lipoprotein-cholesterol (HDL-C), low density lipoprotein-cholesterol (LDL-C) and very low-density lipoprotein (VLDL) in all subjects were measured to analyze the relationship with the polymorphisms of IL10 promoter.</p><p><b>RESULTS</b>Comparing with AA genotype, the group with GA genotype at IL10 promoter -1082 position had a significant elevation of serum HDL-C level [(1.514+/-0.501) mmol/L vs. (1.261+/-0.346) mmol/L, t=-2.225, P=0.028] and a lower serum TG level[(1.701+/-1.836) mmol/L vs. (0.981+/-0.314) mmol/L,Z=-2.096,P=0.036]. The TG, TC, HDL-C, LDL-C and VLDL levels did not show any statistically significant differences among different genotypes (CC, AA, CA) of the IL10 -592, as well as the genotypes (TT, TA, AA) ofIL10 -819 (P>0.05).</p><p><b>CONCLUSION</b>The results suggest that in the Chinese Han population, the polymorphism at position -1082 in the promoter region of IL10 gene may be associated with the serum HDL-C level and TG level.</p>

Molecular genetic analysis of mitochondrial DNA C1494T mutation in non-syndromic hearing loss of Chinese population / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To conduct a molecular epidemiological survey on the mitochondrial DNA C1494T mutation in non-syndromic hearing loss patients in Chinese population.</p><p><b>METHODS</b>Polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) were used to screen the mitochondrial DNA 12S rRNA C1494T mutation in 20 patients with aminoglycoside antibiotic induced hearing loss, 136 sporadic non-syndromic hearing loss patients and 50 probands of pedigrees with non-syndromic hearing loss.</p><p><b>RESULTS</b>The C1494T mutation did not appear in all cases except for the positive control.</p><p><b>CONCLUSION</b>Incidence of mitochondrial DNA C1494T mutation is much lower than that of mitochondrial DNA A1555G mutation in non-syndromic hearing loss of Chinese population. Mitochondrial DNA C1494T mutation may be a rare variation in non-syndromic hearing loss and is not the main cause of aminoglycoside antibiotic induced-deafness.</p>