BACKGROUND Spinocerebellar ataxia recessive type 7(SCAR7)is a rare clinical manifestation beginning in childhood or adolescence.SCAR7 is caused by tripeptidyl peptidase 1(TPP1)gene mutations,and presents with cerebell...BACKGROUND Spinocerebellar ataxia recessive type 7(SCAR7)is a rare clinical manifestation beginning in childhood or adolescence.SCAR7 is caused by tripeptidyl peptidase 1(TPP1)gene mutations,and presents with cerebellar ataxia,pyramidal signs,neurocognitive impairment,deep paresthesia,and cerebellar atrophy.CASE SUMMARY Here,we describe a 25-year-old female patient in China who presented with increasing difficulty walking,falling easily,shaking limbs,instability holding items,slurred speech,coughing when drinking,palpitations,and frequent hunger and overeating.Magnetic resonance imaging showed cerebellar atrophy.Whole exome sequencing detected two compound heterozygous mutations in the TPP1 gene:c.1468G>A p.Glu490Lys and c.1417G>A p.Gly473Arg.Considering the patient’s clinical presentation and genetic test results,we hypothesized that complex heterozygous mutations cause TPP1 enzyme deficiency,which may lead to SCAR7.CONCLUSION We report the first case of SCAR7 from China.We also identify novel compound heterozygous mutations in the TPP1 gene associated with SCAR7,expanding the range of known disease-causing mutations for SCAR7.展开更多
To the Editor:In the last recent years,significant progress has been achieved in research on dysphagia.This is important because approximately 50% of patients with dysphagia after acute stroke still have a slow functi...To the Editor:In the last recent years,significant progress has been achieved in research on dysphagia.This is important because approximately 50% of patients with dysphagia after acute stroke still have a slow functional recovery,and the duration of disease may last for several months or the whole life.The ultimate aim of dysphagia treatment is for patients to be able to eat again and to examine if the influence of eating conditions is inevitable in dysphagia research.展开更多
At present, most shale gas exploration and development areas in China are difficult to provide sufficient and effective production data to support economic evaluation, since they are still in the initial stage of low ...At present, most shale gas exploration and development areas in China are difficult to provide sufficient and effective production data to support economic evaluation, since they are still in the initial stage of low exploration level. In addition, ecological and environmental factors are not taken into account in the evaluation process, which does not meet the needs of green energy development of China. Aiming at above problems, the dynamic economic evaluation method of shale gas resources based on calculus principle is proposed. The Arps hyperbolic decreasing curve model will be used in the evaluation of single shale gas well production, which can evaluate single well production of shale gas by fitting the existing dynamic production data to generate the production decreasing curve. Therefore, the variation regularity of the cumulative production of single well shale gas within the study area can be obtained by the model mentioned above. According to the variation regularity of the cumulative production obtained from the Arps hyperbolic decreasing curve model, the recovery period of single well cost, ultimate economic life and the ultimate economic resource can be evaluated dynamically by analyzing the variation regularity of the cumulative sales revenue and cumulative input cost of single shale gas well. Then the evaluation result can be further extend to the whole evaluation areas, in order to analyze shale gas resources ’ economic value in evaluation regions under different shale gas price conditions. The results of the above evaluation methods are not only conducive to improving the economic benefits of relative shale gas development enterprises, but also provide a basis for the national energy strategy deployment.展开更多
Objective:To systematically evaluate the clinical efficacy of Wendan Decoction series combined with conventional western medicine in the treatment of coronary heart disease complicated with anxiety and depression.Meth...Objective:To systematically evaluate the clinical efficacy of Wendan Decoction series combined with conventional western medicine in the treatment of coronary heart disease complicated with anxiety and depression.Methods:We searched four Chinese databases including CNKI,WanFang,VIP,SinoMed,and five English databases of PubMed,Cochrane Library,Web of Science,EMBASE,Springer Link for clinical randomized controlled trials of using Wendan Decoction series in the treatment of coronary heart disease complicated with anxiety and depression.Time range for searching was from the establishment of these databases to January 2022.Then we screened the retrieved literature according to the inclusion and exclusion criteria,and conducted data extraction and quality evaluation of the selected literature.Meta analysis was conducted using RevMan 5.3 software.Results:A total of 13 RCT studies and 1007 patients with coronary heart disease complicated with anxiety and depression were included.Meta-analysis showed that Wendan Decoction series combined with conventional western medicine treatment showed better effects in the improvement rate of clinical anxiety[RR=1.21,95%CI=(1.12,1.31),P<0.00001],the improvement rate of depression[RR=1.30,95%CI=(1.10,1.53),P=0.002],the improvement rate of angina pectoris[RR=1.28,95%CI=(1.13,1.44),P<0.0001],increasing the ECG improvement rate[RR=1.29,95%CI=(1.07,1.55),P=0.008],increasing the rate of reducing nitroglycerin usage[RR=1.68,95%CI=(1.25,2.25,P=0.0006],as well as increasing the improvement rate of TCM symptoms[RR=1.15,95%CI=(1.04,1.26),P=0.004].It also showed better effects in reducing clinical anxiety and depression scores(SAS,SDS,HAMA,HAMD),SAQ scores and TCM symptom scores.The differences were statistically significant.Conclusion:Wendan Decoction series combined with conventional western medicine shows advantages in treating coronary heart disease patients complicated with anxiety and depression in reducing the angina pectoris score,anxiety and depression score,as well as improving the clin展开更多
The Dianchi golden-line barbel,Sinocyclocheilus grahami(Regan,1904),is one of the“Four Famous Fishes”of Yunnan Province,China.Given its economic value,this species has been artificially bred successfully since 2007,...The Dianchi golden-line barbel,Sinocyclocheilus grahami(Regan,1904),is one of the“Four Famous Fishes”of Yunnan Province,China.Given its economic value,this species has been artificially bred successfully since 2007,with a nationally selected breed(“S.grahami,Bayou No.1”)certified in 2018.For the future utilization of this species,its growth rate,disease resistance,and wild adaptability need to be improved,which could be achieved with the help of molecular markerassisted selection(MAS).In the current study,we constructed the first chromosome-level genome of S.grahami,assembled 48 pseudo-chromosomes,and obtained a genome size of 1.49 Gb.We also performed QTL-seq analysis of S.grahami using the highest and lowest bulks(i.e.,largest and smallest size)in both a sibling and random population.We screened two quantitative trait loci(QTLs)(Chr3,14.9-39.1 Mb and Chr17,4.1-27.4 Mb)as major growth-related locations.Several candidate genes(e.g.,map2k5,stat1,phf21a,sox6,and smad6)were also identified,with functions related to growth,such as cell differentiation,neuronal development,skeletal muscle development,chondrogenesis,and immunity.These results built a solid foundation for in-depth MAS studies on the growth traits of S.grahami.展开更多
基金Supported by Postdoctoral program of the Affiliated Hospital of Jining Medical University,No.JYFY303573Health Commission of Shandong Province,No.202006010928+1 种基金Academician Lin He New Medicine in Jining Medical University,No.JYHL2018FMS05Affiliated Hospital of Jining Medical University,No.2018-BS-004.
文摘BACKGROUND Spinocerebellar ataxia recessive type 7(SCAR7)is a rare clinical manifestation beginning in childhood or adolescence.SCAR7 is caused by tripeptidyl peptidase 1(TPP1)gene mutations,and presents with cerebellar ataxia,pyramidal signs,neurocognitive impairment,deep paresthesia,and cerebellar atrophy.CASE SUMMARY Here,we describe a 25-year-old female patient in China who presented with increasing difficulty walking,falling easily,shaking limbs,instability holding items,slurred speech,coughing when drinking,palpitations,and frequent hunger and overeating.Magnetic resonance imaging showed cerebellar atrophy.Whole exome sequencing detected two compound heterozygous mutations in the TPP1 gene:c.1468G>A p.Glu490Lys and c.1417G>A p.Gly473Arg.Considering the patient’s clinical presentation and genetic test results,we hypothesized that complex heterozygous mutations cause TPP1 enzyme deficiency,which may lead to SCAR7.CONCLUSION We report the first case of SCAR7 from China.We also identify novel compound heterozygous mutations in the TPP1 gene associated with SCAR7,expanding the range of known disease-causing mutations for SCAR7.
文摘To the Editor:In the last recent years,significant progress has been achieved in research on dysphagia.This is important because approximately 50% of patients with dysphagia after acute stroke still have a slow functional recovery,and the duration of disease may last for several months or the whole life.The ultimate aim of dysphagia treatment is for patients to be able to eat again and to examine if the influence of eating conditions is inevitable in dysphagia research.
文摘At present, most shale gas exploration and development areas in China are difficult to provide sufficient and effective production data to support economic evaluation, since they are still in the initial stage of low exploration level. In addition, ecological and environmental factors are not taken into account in the evaluation process, which does not meet the needs of green energy development of China. Aiming at above problems, the dynamic economic evaluation method of shale gas resources based on calculus principle is proposed. The Arps hyperbolic decreasing curve model will be used in the evaluation of single shale gas well production, which can evaluate single well production of shale gas by fitting the existing dynamic production data to generate the production decreasing curve. Therefore, the variation regularity of the cumulative production of single well shale gas within the study area can be obtained by the model mentioned above. According to the variation regularity of the cumulative production obtained from the Arps hyperbolic decreasing curve model, the recovery period of single well cost, ultimate economic life and the ultimate economic resource can be evaluated dynamically by analyzing the variation regularity of the cumulative sales revenue and cumulative input cost of single shale gas well. Then the evaluation result can be further extend to the whole evaluation areas, in order to analyze shale gas resources ’ economic value in evaluation regions under different shale gas price conditions. The results of the above evaluation methods are not only conducive to improving the economic benefits of relative shale gas development enterprises, but also provide a basis for the national energy strategy deployment.
基金International Cooperation Project of Traditional Chinese Medicine。
文摘Objective:To systematically evaluate the clinical efficacy of Wendan Decoction series combined with conventional western medicine in the treatment of coronary heart disease complicated with anxiety and depression.Methods:We searched four Chinese databases including CNKI,WanFang,VIP,SinoMed,and five English databases of PubMed,Cochrane Library,Web of Science,EMBASE,Springer Link for clinical randomized controlled trials of using Wendan Decoction series in the treatment of coronary heart disease complicated with anxiety and depression.Time range for searching was from the establishment of these databases to January 2022.Then we screened the retrieved literature according to the inclusion and exclusion criteria,and conducted data extraction and quality evaluation of the selected literature.Meta analysis was conducted using RevMan 5.3 software.Results:A total of 13 RCT studies and 1007 patients with coronary heart disease complicated with anxiety and depression were included.Meta-analysis showed that Wendan Decoction series combined with conventional western medicine treatment showed better effects in the improvement rate of clinical anxiety[RR=1.21,95%CI=(1.12,1.31),P<0.00001],the improvement rate of depression[RR=1.30,95%CI=(1.10,1.53),P=0.002],the improvement rate of angina pectoris[RR=1.28,95%CI=(1.13,1.44),P<0.0001],increasing the ECG improvement rate[RR=1.29,95%CI=(1.07,1.55),P=0.008],increasing the rate of reducing nitroglycerin usage[RR=1.68,95%CI=(1.25,2.25,P=0.0006],as well as increasing the improvement rate of TCM symptoms[RR=1.15,95%CI=(1.04,1.26),P=0.004].It also showed better effects in reducing clinical anxiety and depression scores(SAS,SDS,HAMA,HAMD),SAQ scores and TCM symptom scores.The differences were statistically significant.Conclusion:Wendan Decoction series combined with conventional western medicine shows advantages in treating coronary heart disease patients complicated with anxiety and depression in reducing the angina pectoris score,anxiety and depression score,as well as improving the clin
基金This study was supported by the National Natural Science Foundation of China(31672282,U1702233,U1902202)Program of the Chinese Academy of Sciences(XDA24030505,XDA23080500,KFJ-STS-QYZD-101)Program of Yunnan Provincial Science and Technology Department(202003AD150017,2018FY001-007)。
文摘The Dianchi golden-line barbel,Sinocyclocheilus grahami(Regan,1904),is one of the“Four Famous Fishes”of Yunnan Province,China.Given its economic value,this species has been artificially bred successfully since 2007,with a nationally selected breed(“S.grahami,Bayou No.1”)certified in 2018.For the future utilization of this species,its growth rate,disease resistance,and wild adaptability need to be improved,which could be achieved with the help of molecular markerassisted selection(MAS).In the current study,we constructed the first chromosome-level genome of S.grahami,assembled 48 pseudo-chromosomes,and obtained a genome size of 1.49 Gb.We also performed QTL-seq analysis of S.grahami using the highest and lowest bulks(i.e.,largest and smallest size)in both a sibling and random population.We screened two quantitative trait loci(QTLs)(Chr3,14.9-39.1 Mb and Chr17,4.1-27.4 Mb)as major growth-related locations.Several candidate genes(e.g.,map2k5,stat1,phf21a,sox6,and smad6)were also identified,with functions related to growth,such as cell differentiation,neuronal development,skeletal muscle development,chondrogenesis,and immunity.These results built a solid foundation for in-depth MAS studies on the growth traits of S.grahami.
文摘目的 观察半夏白术天麻汤治疗前庭性偏头痛的临床效果。方法 回顾性分析我院2017年1月—2018年2月收治的130例前庭性偏头痛患者的临床资料。根据用药情况分为观察组70例和对照组60例。对照组给予甲磺酸倍他司汀口服,观察组在对照组基础上给予半夏白术天麻汤治疗。观察2组临床疗效,比较2组治疗前后累计发病次数和天数,眩晕残障评分(DHI)、健康状况评分量表(SF-36)、汉密尔顿焦虑量表(HAMA)及抑郁量表(HRSD)评分变化情况。结果 观察组总有效率高于对照组( P <0.05)。治疗后2组DHI、HAMA和HRSD评分均较治疗前降低,累计发病次数与天数较治疗前减少,SF-36评分较治疗前升高,且观察组改善情况优于对照组( P <0.05)。结论 中西医联合治疗前庭性偏头痛效果显著,可明显提高患者生活质量。
