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Peutz-Jeghers syndrome: a report of 5 cases
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作者 Wang Xingwei Fan Chaoqiang +5 位作者 Que Dan Guo Hong Wang Lei Ling Xianlong Deng Lei Zhao Xiaoyan 《Journal of Medical Colleges of PLA(China)》 CAS 2011年第4期238-241,共4页
Peutz-Jeghers syndrome (PJS), also known as hereditary intestinal polyposis syndrome, is an autosomal dominant genetic disease characterized by the development of benign hamartomatous polyps in the gastrointestinal tr... Peutz-Jeghers syndrome (PJS), also known as hereditary intestinal polyposis syndrome, is an autosomal dominant genetic disease characterized by the development of benign hamartomatous polyps in the gastrointestinal tract and hyperpigmented macules on the lips and oral mucosa. Here, we reported 5 cases of PJS and our experience about its diagnosis and treatment. 展开更多
关键词 peutz-jeghers syndrome DIAGNOSIS TREATMENT
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Protective mechanism of quercetin in alleviating sepsis-related acute respiratory distress syndrome based on network pharmacology and in vitro experiments 被引量:1
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作者 Weichao Ding Wei Zhang +7 位作者 Juan Chen Mengmeng Wang Yi Ren Jing Feng Xiaoqin Han Xiaohang Ji Shinan Nie Zhaorui Sun 《World Journal of Emergency Medicine》 SCIE CAS CSCD 2024年第2期111-120,共10页
BACKGROUND:Sepsis-related acute respiratory distress syndrome(ARDS)has a high mortality rate,and no effective treatment is available currently.Quercetin is a natural plant product with many pharmacological activities,... BACKGROUND:Sepsis-related acute respiratory distress syndrome(ARDS)has a high mortality rate,and no effective treatment is available currently.Quercetin is a natural plant product with many pharmacological activities,such as antioxidative,anti-apoptotic,and anti-inflammatory effects.This study aimed to elucidate the protective mechanism of quercetin against sepsis-related ARDS.METHODS:In this study,network pharmacology and in vitro experiments were used to investigate the underlying mechanisms of quercetin against sepsis-related ARDS.Core targets and signaling pathways of quercetin against sepsis-related ARDS were screened and were verified by in vitro experiments.RESULTS:A total of 4,230 targets of quercetin,360 disease targets of sepsis-related ARDS,and 211 intersection targets were obtained via database screening.Among the 211 intersection targets,interleukin-6(IL-6),tumor necrosis factor(TNF),albumin(ALB),AKT serine/threonine kinase 1(AKT1),and interleukin-1β(IL-1β)were identified as the core targets.A Gene Ontology(GO)enrichment analysis revealed 894 genes involved in the inflammatory response,apoptosis regulation,and response to hypoxia.Kyoto Encyclopedia of Genes and Genomes(KEGG)enrichment analysis identified 106 pathways.After eliminating and generalizing,the hypoxia-inducible factor-1(HIF-1),TNF,nuclear factor-κB(NF-κB),and nucleotide-binding and oligomerization domain(NOD)-like receptor signaling pathways were identified.Molecular docking revealed that quercetin had good binding activity with the core targets.Moreover,quercetin blocked the HIF-1,TNF,NF-κB,and NODlike receptor signaling pathways in lipopolysaccharide(LPS)-induced murine alveolar macrophage(MH-S)cells.It also suppressed the inflammatory response,oxidative reactions,and cell apoptosis.CONCLUSION:Quercetin ameliorates sepsis-related ARDS by binding to its core targets and blocking the HIF-1,TNF,NF-κB,and NOD-like receptor signaling pathways to reduce inflammation,cell apoptosis,and oxidative stress. 展开更多
关键词 QUERCETIN Sepsis-related acute respiratory distress syndrome Network pharmacology
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Effects of high-dose glucose-insulin-potassium on acute coronary syndrome patients receiving reperfusion therapy:a meta-analysis
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作者 Zeyu Yang Huiruo Liu +3 位作者 Dazhou Lu Shengchuan Cao Feng Xu Chuanbao Li 《World Journal of Emergency Medicine》 SCIE CAS CSCD 2024年第3期181-189,共9页
BACKGROUND:This meta-analysis aimed to assess the efficacy of high-dose glucose-insulinpotassium(GIK) therapy on clinical outcomes in acute coronary syndrome(ACS) patients receiving reperfusion therapy.METHODS:We sear... BACKGROUND:This meta-analysis aimed to assess the efficacy of high-dose glucose-insulinpotassium(GIK) therapy on clinical outcomes in acute coronary syndrome(ACS) patients receiving reperfusion therapy.METHODS:We searched the PubMed,Web of Science,MEDLINE,Embase,and Cochrane Library databases from inception to April 26,2022,for randomized controlled trials(RCTs) that compared high-dose GIK and placebos in ACS patients receiving reperfusion therapy.The primary endpoint was major adverse cardiovascular events(MACEs).RESULTS:Eleven RCTs with 884 patients were ultimately included.Compared with placebos,high-dose GIK markedly reduced MACEs(risk ratio [RR] 0.57,95% confidence interval [95% CI]:0.35 to 0.94,P=0.03) and the risk of heart failure(RR 0.48,95% CI:0.25 to 0.95,P=0.04) and improved the left ventricular ejection fraction(LVEF)(mean difference [MD] 2.12,95% CI:0.40 to 3.92,P=0.02) at 6 months.However,no difference was observed in all-cause mortality at 30 d or 1 year.Additionally,high-dose GIK was significantly associated with increased incidences of phlebitis(RR 4.78,95% CI:1.36 to 16.76,P=0.01),hyperglycemia(RR 9.06,95% CI:1.74 to 47.29,P=0.009) and hypoglycemia(RR 6.50,95% CI:1.28 to 33.01,P=0.02) but not reinfarction,hyperkalemia or secondary reperfusion.In terms of oxidative stress-lowering function,high-dose GIK markedly reduced superoxide dismutase(SOD) activity but not glutathione peroxidase(GSH-Px) or catalase(CAT) activity.CONCLUSION:Patients with ACS receiving reperfusion therapy exhibited a reduction in MACEs and good oxidative stress-lowering eflcacy in response to high-dose GIK.Moreover,with a higher incidence of complications such as phlebitis,hyperglycemia,and hypoglycemia.Furthermore,there were no observed survival benefits associated with high-dose GIK.More trials with long-term follow-up are still needed. 展开更多
关键词 Acute coronary syndrome HIGH-DOSE Glucose-insulin-potassium treatment Reperfusion therapy META-ANALYSIS
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Yolk free egg substitute improves the serum phospholipid profile of mice with metabolic syndrome based on lipidomic analysis
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作者 Zhihui Yu Lingyu Fan +3 位作者 Fei Tai Lixin Zhang Xiaoyu Zhang Yisheng Chen 《Food Science and Human Wellness》 SCIE CSCD 2024年第1期482-493,共12页
In this study,the impacts of egg consumption on mice model of metabolic syndrome(Met S)were comparatively investigated.Mice were divided into five groups(n=8):normal diet group(ND),high-fat diet group(HFD),HFD with wh... In this study,the impacts of egg consumption on mice model of metabolic syndrome(Met S)were comparatively investigated.Mice were divided into five groups(n=8):normal diet group(ND),high-fat diet group(HFD),HFD with whole egg group(WE),HFD with free-yolk egg substitute group(YFES),and HFD with lovastatin group(Lov).Main biochemical indexes and a non-targeted lipidomic analysis were employed to insight the lipid profile changes in serum.It was revealed that WE could significantly improve serum biochemical indexes by reducing body weight,low-density lipoprotein cholesterol(LDL-C)and total cholesterol(TC),while increasing high-density lipoprotein cholesterol.YFES exhibited remarkably better performance in increasing phosphatidylglycerol and phosphatidic acids,while decreasing phosphatidylinositol than WE.A total of 50 differential lipids biomarkers tightly related to glycerophospholipids metabolism were screened out.Carnitine C18:2 and C12:1,SM(d18:0/12:0),and SM(d18:1/14:1)were significantly upregulated in YFES compared to WE.YFES reduced expression of SREBP-1c and Cpt1a,while did not affect the expression of PPAR-α.Sphingomyelin biomarkers were positively related to the TC(|r|>0.6),while PPAR-αwas negatively correlated with triglyceride and LDL-C levels.To sum up,YFES attenuated HFD-induced Met S by improving the serum phospholipids,which account for its modulation of glycerophospholipid metabolism. 展开更多
关键词 Metabolic syndrome Whole egg Yolk free egg substitute SERUM LIPIDOMICS
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Diagnostic Accuracy of Computerized Bowel Sound Analysis with Non-Invasive Devices for Irritable Bowel Syndrome:A Systematic Review and Meta-Analysis
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作者 Xia-Xiao Yan Yue-Lun Zhang +2 位作者 Yu-Pei Zhang Ying-Yun Yang Dong Wu 《Chinese Medical Sciences Journal》 CAS CSCD 2024年第2期122-130,共9页
Objective To assess the diagnostic accuracy of bowel sound analysis for irritable bowel syndrome(IBS)with a systematic review and meta-analysis.Methods We searched MEDLINE,Embase,the Cochrane Library,Web of Science,an... Objective To assess the diagnostic accuracy of bowel sound analysis for irritable bowel syndrome(IBS)with a systematic review and meta-analysis.Methods We searched MEDLINE,Embase,the Cochrane Library,Web of Science,and IEEE Xplore databases until September 2023.Cross-sectional and case-control studies on diagnostic accuracy of bowel sound analysis for IBS were identified.We estimated the pooled sensitivity,specificity,positive likelihood ratio,negative likeli-hood ratio,and diagnostic odds ratio with a 95% confidence interval(CI),and plotted a summary receiver operat-ing characteristic curve and evaluated the area under the curve.Results Four studies were included.The pooled diagnostic sensitivity,specificity,positive likelihood ratio,nega-tive likelihood ratio,and diagnostic odds ratio were 0.94(95%CI,0.87‒0.97),0.89(95%CI,0.81‒0.94),8.43(95%CI,4.81‒14.78),0.07(95%CI,0.03‒0.15),and 118.86(95%CI,44.18‒319.75),respectively,with an area under the curve of 0.97(95%CI,0.95‒0.98).Conclusions Computerized bowel sound analysis is a promising tool for IBS.However,limited high-quality data make the results'validity and applicability questionable.There is a need for more diagnostic test accuracy studies and better wearable devices for monitoring and analysis of IBS. 展开更多
关键词 irritable bowel syndrome bowel sound analysis diagnostic accuracy systematic review META-ANALYSIS
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Lactobacillus plantarum AR495 improves stress-induced irritable bowel syndrome in rats by targeting gut microbiota and Mast cell-PAR2-TRPV1 signaling pathway
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作者 Hongyun Zhang Guangqiang Wang +6 位作者 Zhiqiang Xiong Zhuan Liao Yangyan Qian Xin Song Li Sui Lianzhong Ai Yongjun Xia 《Food Science and Human Wellness》 SCIE CSCD 2024年第2期698-708,共11页
Probiotics have great potential in regulating intestinal pain.In this study,the effects of Lactobacillus plantarum AR495 on the visceral sensitivity and gut microbiota of irritable bowel syndrome(IBS)rats were studied... Probiotics have great potential in regulating intestinal pain.In this study,the effects of Lactobacillus plantarum AR495 on the visceral sensitivity and gut microbiota of irritable bowel syndrome(IBS)rats were studied.The results showed that tryptase released after mast cell activation and degranulation plays a key role in visceral pain,and L.plantarum AR495 reduced the stimulation of colonic mast cells and the expression of protease-activated receptor 2(PAR2)and TRPV1 in dorsal root ganglia.Research further showed that supplementation with L.plantarum AR495 increased the level of short-chain fatty acids(SCFAs)and enhanced the barrier function of the colon.In addition,the microbiota analysis of the colon indicated that L.plantarum AR495 promoted the proliferation of Bifidobacterium and inhibited the proliferation of Lachnospiraceae,which alleviated the imbalance of the intestinal microbiota caused by IBS to a certain extent.In total,L.plantarum AR495 might reduce visceral sensitivity through the Mast cell-PAR2-TRPV1 signaling pathway by maintaining the homeostasis of the intestinal barrier. 展开更多
关键词 Lactobacillus plantarum Irritable bowel syndrome Visceral sensitivity Dorsal root ganglia TRYPTASE MICROBIOTA
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Sugarcane leaves-derived polyphenols alleviate metabolic syndrome and modulate gut microbiota of ob/ob mice
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作者 Li Sun Tao Wang +8 位作者 Baosong Chen Cui Guo Shanshan Qiao Jinghan Lin Huan Liao Huanqin Dai Bin Wang Jingzu Sun Hongwei Liu 《Food Science and Human Wellness》 SCIE CSCD 2024年第2期633-648,共16页
Sugarcane leaves-derived polyphenols(SLP)have been demonstrated to have diverse health-promoting benefits,but the mechanism of action has not been fully elucidated.This study aimed to investigate the anti-metabolic di... Sugarcane leaves-derived polyphenols(SLP)have been demonstrated to have diverse health-promoting benefits,but the mechanism of action has not been fully elucidated.This study aimed to investigate the anti-metabolic disease effects of SLP and the underlying mechanisms in mice.In the current study,we prepared the SLP mainly consisting of three flavonoid glycosides,three phenol derivatives,and two lignans including one new compound,and further demonstrated that SLP reduced body weight gain and fat accumulation,improved glucose and lipid metabolism disorders,ameliorated hepatic steatosis,and regulated short-chain fatty acids(SCFAs)production and secondary bile acids metabolism in ob/ob mice.Notably,SLP largely altered the gut microbiota composition,especially enriching the commensal bacteria Akkermansia muciniphila and Bacteroides acidifaciens.Oral gavage with the above two strains ameliorated metabolic syndrome(MetS),regulated secondary bile acid metabolism,and increased the production of SCFAs in high-fat diet(HFD)-induced obese mice.These results demonstrated that SLP could be used as a prebiotic to attenuate MetS via regulating gut microbiota composition and further activating the secondary bile acids-mediated gut-adipose axis. 展开更多
关键词 Sugarcane leaves-derived polyphenols Metabolic syndrome Bacteroides acidifaciens Akkermansia muciniphila Secondary bile acids metabolism
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Alleviative effects of Bacillus coagulans strains on irritable bowel syndrome-unraveling strain specificity through physiological and genomic analysis
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作者 Jiang Cao Leilei Yu +4 位作者 Jianxin Zhao Hao Zhang Wei Chen Yuzheng Xue Qixiao Zhai 《Food Science and Human Wellness》 SCIE CAS CSCD 2024年第4期1845-1855,共11页
The high intraspecies heterogeneity of Baciillus coagulans leads to significant phenotypic differences among different strains.Thus,6 B.coagulans strains were tested in the present study using an irritable bowel syndr... The high intraspecies heterogeneity of Baciillus coagulans leads to significant phenotypic differences among different strains.Thus,6 B.coagulans strains were tested in the present study using an irritable bowel syndrome(IBS)animal model to determine whether the IBS-alleviating effects of B.coagulans strains are strain-specific.The results of this study showed that the ingestion of B.coagulans GBI-30,6086,and B.coagulans CCFM1041 significantly alleviated IBS symptoms in mice.In contrast,other B.coagulans strains showed no or limited alleviating effects on IBS symptoms.According to our experimental results,the two main common features of these strains were as follows:1)The resistance of vegetative cells to bile salts,and 2)ability to synthesize specific lipids and secondary metabolites.Screening strains based on these two indicators may greatly reduce costs and provide a basis for mining new functional B.coagulans strains.Our results also suggest that administration of B.coagulans could significantly regulate microbiota dysbiosis in animal models.Moreover,the close relationships between the gut microbiota,gut microbiota metabolites,and IBS were further confirmed in this study. 展开更多
关键词 Baciillus coagulans Irritable bowel syndrome Resistance to bile salts Comparative genomic analysis Gut microbiota
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Gut microbiota remodeling drived by dietary millet protein prevents the metabolic syndrome
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作者 Shuhua Shan Ruopeng Yin +6 位作者 Jiangying Shi Lizhen Zhang Jiaqi Zhou Qinqin Qiao Xiushan Dong Wenjing Zhao Zhuoyu Li 《Food Science and Human Wellness》 SCIE CAS CSCD 2024年第4期1987-2001,共15页
Metabolic syndrome(Met S)is a chronic disease associated with the disturbance of gut microbiota homeostasis.Metabolites derived from gut microbes play essential roles in Met S prevention and therapy.Here,we focused on... Metabolic syndrome(Met S)is a chronic disease associated with the disturbance of gut microbiota homeostasis.Metabolites derived from gut microbes play essential roles in Met S prevention and therapy.Here,we focused on the inhibitory effect of the extract of millet bran protein(EMBP)on a high-fat diet(HFD)-induced Met S,aiming to identify gut microbiota and their metabolites that involve in the anti-Met S activity of EMBP.The obesity,chronic inflammation,insulin resistance in Met S mouse models were abolished after EMBP treatment.The protective mechanism of EMBP against HFD-induced Met S may depend on improved gut barrier function.Using microbiome analysis,we found that EMBP supplementation improved gut microbiome dysbiosis in Met S mice,specifically upregulating Bacteroides acidifaciens.The fecal microbiota transplantation(FMT)also demonstrated this phenomenon.In addition,metabolomic analysis showed that EMBP mediates metabolic profiling reprogramming in Met S mice.Notably,a microbiota-derived metabolite,gamma-aminobutyric acid(GABA),is enriched by EMBP.In addition,exogenous GABA treatment produced a similar protective effect to EMBP by improving NRF2-dependent gut barrier function to protect HFDinduced Met S.The results suggest that EMBP suppress host Met S by remodeling of gut microbiota as an effective candidate for next-generation medicine food dual purpose dietary supplement to intervene in MetS. 展开更多
关键词 Metabolic syndrome Gut microbiota Extract of millet bran protein Gamma-aminobutyric acid Gut barrier function
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Noonan Syndrome患儿临床特征及致病基因分析
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作者 周虹 段宏 +1 位作者 高建军 郭刚 《中国听力语言康复科学杂志》 2024年第1期99-102,共4页
努南综合征(Noonan syndrome,NS)为常染色体显性遗传病,临床特征上可有多系统损害,如独特的面部畸形、先天性心脏缺陷、身材矮小、隐睾、淋巴畸形、出血性疾病和骨骼畸形等,部分患者有听力障碍。临床上已有报道Noonan综合征是感音神经... 努南综合征(Noonan syndrome,NS)为常染色体显性遗传病,临床特征上可有多系统损害,如独特的面部畸形、先天性心脏缺陷、身材矮小、隐睾、淋巴畸形、出血性疾病和骨骼畸形等,部分患者有听力障碍。临床上已有报道Noonan综合征是感音神经性聋的罕见病因。本文描述了1名双侧严重听力损失的Noonan综合征患者,成功行双侧人工耳蜗植入。2019年该患儿因神经性耳聋、特殊面容及生长发育问题就诊于首都医科大学附属儿童医院,通过全外显子组测序检测到PTPN11基因存在c.417G>C致病性变异,确诊为Noonan综合征1型。本研究的成功实施,有助于进一步明确NSPTPN11致病基因,为家族成员的遗传咨询及未来的优生优育咨询提供理论依据。 展开更多
关键词 NOONAN综合征 感音神经性聋 PTPN11基因 人工耳蜗植入
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双气囊小肠镜对Peutz-Jeghers综合征的诊治研究 被引量:11
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作者 宁守斌 毛高平 +3 位作者 唐杰 白莉 曹传平 杨春敏 《中国内镜杂志》 CSCD 北大核心 2008年第5期467-470,共4页
目的探讨双气囊小肠镜(DBE)对Peutz-Jeghers综合征(PJS)患者小肠息肉治疗和随访的应用价值。方法应用DBE对临床证实或怀疑为PJS的患者进行检查和治疗,主要观察指标包括DBE检查治疗完成情况、小肠息肉切除成功率和切除数量、操作时间和... 目的探讨双气囊小肠镜(DBE)对Peutz-Jeghers综合征(PJS)患者小肠息肉治疗和随访的应用价值。方法应用DBE对临床证实或怀疑为PJS的患者进行检查和治疗,主要观察指标包括DBE检查治疗完成情况、小肠息肉切除成功率和切除数量、操作时间和并发症等。结果共对8例患者进行了17次检查(男5例,女3例,平均年龄20.4岁,年龄范围12~32岁,经口检查8次,肛门9次),平均检查时间95min(65~180min),所有病例均有小肠多发息肉。对8例患者进行了DBE镜下息肉切除治疗,共切除小肠息肉65枚(直径0.5~5.0cm),发现息肉癌变1例。切除后残根出血4例,镜下注射肾上腺素后出血停止,出现腹痛症状2例。结论双气囊小肠镜为PJS患者提供了一种新的监控和治疗小肠息肉的方法。 展开更多
关键词 peutz-jeghers综合征 小肠息肉 双气囊电子小肠镜 内镜治疗
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双气囊小肠镜在Peutz-Jeghers综合征中的诊治作用 被引量:8
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作者 周平 毛高平 +6 位作者 曹传平 宁守斌 杨春敏 唐杰 陈英 王建荣 杜斌 《中国内镜杂志》 CSCD 北大核心 2008年第6期575-577,581,共4页
目的探讨双气囊小肠镜在诊治Peutz-Jeghers综合征中的应用价值。方法对空军总医院2004年1月~2008年3月经双气囊小肠镜诊治的23例Peutz-Jeghers综合征患者的临床特点和治疗情况进行回顾性分析。小肠息肉可在双气囊小肠镜检查时给予切除... 目的探讨双气囊小肠镜在诊治Peutz-Jeghers综合征中的应用价值。方法对空军总医院2004年1月~2008年3月经双气囊小肠镜诊治的23例Peutz-Jeghers综合征患者的临床特点和治疗情况进行回顾性分析。小肠息肉可在双气囊小肠镜检查时给予切除,较大无蒂息肉行手术切除。结果22例患者均经双气囊小肠镜检查并结合临床表现特点确诊。21例表现为口唇、四肢末端散在分布的黑/褐色斑,19例以阵发性腹痛为临床突出表现,最早腹痛发病年龄5岁,伴腹胀,血便或无排便、排气。21例患者发现弥漫分布大小不等的胃肠息肉,息肉形态表现为无蒂、亚蒂、长蒂形息肉,呈蘑菇或菜花状,部分息肉表面糜烂,伴溃疡形成。18例患者小肠息肉行双气囊小肠镜下切除,其中17例患者胃、结肠、直肠息肉分别在胃镜、结肠镜下切除,有4例患者因小肠息肉较大而行手术治疗。错构瘤18例,空肠黏液性腺癌1例。结论双气囊小肠镜在Peutz-Jeghers综合征的诊断中具有重要价值,可提高Peutz-Jeghers综合征的治疗效果。 展开更多
关键词 双气囊电子小肠镜 peutz-jeghers综合征 治疗
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多层螺旋CT在Peutz-Jeghers综合征诊断中的应用 被引量:5
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作者 王涛 王锡明 +2 位作者 武乐斌 李振家 柳澄 《医学影像学杂志》 2006年第6期589-592,共4页
目的:探讨多层螺旋CT在Peutz-Jeghers综合征诊断中的价值。方法:对6例临床怀疑Peutz-Jeghers综合征患者进行多层螺旋CT扫描(平扫和动态强化扫描),对其轴位图像和重建的4-D、最大密度投影及仿真内窥镜图像进行观察分析,分别对各病例进行... 目的:探讨多层螺旋CT在Peutz-Jeghers综合征诊断中的价值。方法:对6例临床怀疑Peutz-Jeghers综合征患者进行多层螺旋CT扫描(平扫和动态强化扫描),对其轴位图像和重建的4-D、最大密度投影及仿真内窥镜图像进行观察分析,分别对各病例进行诊断。结果:6例患者中4例MSCT发现胃、小肠及结肠多发息肉,2例患者只发现空肠和回肠内多发息肉,MSCT诊断为Peutz-Jeghers综合征4例,另外2例诊断为家族性腺瘤性息肉病(FAP),MSCT诊断Peutz-Jeghers综合征的敏感性为100%,特异性为66.67%。结论:MSCT对Peutz-Jeghers综合征诊断准确性高,具有独特的优越性。 展开更多
关键词 peutz-jeghers综合征 体层摄影术 X线计算机
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Peutz-Jeghers综合征中Brg1蛋白的表达及临床意义 被引量:1
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作者 刘金霞 周平 +4 位作者 胡志民 赵晓 时凤敏 林艳华 毛高平 《山东医药》 CAS 北大核心 2011年第13期13-14,共2页
目的探讨Peutz-Jeghers综合征(PJS)中Brg1蛋白的表达及其在PJS息肉发展过程中的作用。方法应用免疫组化法检测Brg1蛋白在72例PJS息肉组织、12例正常小肠黏膜组织、30例小肠癌组织中的表达,并探讨其与PJS息肉发生、发展及癌变的关系。结... 目的探讨Peutz-Jeghers综合征(PJS)中Brg1蛋白的表达及其在PJS息肉发展过程中的作用。方法应用免疫组化法检测Brg1蛋白在72例PJS息肉组织、12例正常小肠黏膜组织、30例小肠癌组织中的表达,并探讨其与PJS息肉发生、发展及癌变的关系。结果 Brg1蛋白在小肠癌组中的阳性表达率为76.67%,PJS息肉组织为54.17%,正常小肠黏膜组织为16.67%;PJS息肉组和正常小肠黏膜组B rg1蛋白阳性表达差异有统计学意义(P<0.05);PJS息肉组和小肠癌组B rg1蛋白阳性表达差异有统计学意义(P<0.05)。结论 Brg1蛋白在小肠癌组织中存在过高表达,在PJS息肉组织中存在高表达,且可能是PJS息肉癌变的关键因子之一。 展开更多
关键词 peutz-jeghers综合征 肠肿瘤 Brg1蛋白 免疫组织化学
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Peutz-Jeghers综合征的治疗 被引量:2
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作者 秦晓辉 王顺祥 +2 位作者 赵忠良 张兴隆 孙江华 《中国现代普通外科进展》 CAS 2019年第9期749-752,共4页
Perutz-Jeghers综合征(Peutz-Jeghers syndrome,PJS)又称黑斑息肉病,是一种少见的常染色体显性遗传病,30%~50%患者有明显的家族史。其主要特征是皮肤黏膜色素沉着和胃肠道多发息肉~[1],该病发病率低,其临床症状可有腹痛、腹泻,也有患者... Perutz-Jeghers综合征(Peutz-Jeghers syndrome,PJS)又称黑斑息肉病,是一种少见的常染色体显性遗传病,30%~50%患者有明显的家族史。其主要特征是皮肤黏膜色素沉着和胃肠道多发息肉~[1],该病发病率低,其临床症状可有腹痛、腹泻,也有患者出现黏液血便。 展开更多
关键词 peutz-jeghers综合征 治疗 复查 小肠镜 手术
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Peutz-Jeghers综合征3例 被引量:2
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作者 李光新 张曙光 +4 位作者 于振海 许崇恩 阮长乐 李兆亭 刘群 《中国现代普通外科进展》 CAS 2003年第1期63-64,共2页
关键词 peutz-jeghers综合征 诊断 电切除术
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Peutz-Jeghers综合征行全结肠切除1例 被引量:1
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作者 黄凯 吴泽晖 +2 位作者 蒋大平 徐华平 赵国海 《皖南医学院学报》 CAS 2017年第3期303-305,共3页
目的:提高对Peutz-Jeghers综合征(PJS)的临床手术方式的认识。方法:对我院明确诊断的1例PJS的临床资料进行回顾性分析。结果:本例发现黑色素斑,肠镜示大肠多发息肉,并有家族聚集现象,行全结肠切除后,治疗效果良好。结论:PJS患者息肉巨大... 目的:提高对Peutz-Jeghers综合征(PJS)的临床手术方式的认识。方法:对我院明确诊断的1例PJS的临床资料进行回顾性分析。结果:本例发现黑色素斑,肠镜示大肠多发息肉,并有家族聚集现象,行全结肠切除后,治疗效果良好。结论:PJS患者息肉巨大者,息肉癌变可能性大,对于有癌变倾向者,手术干预效果确切。 展开更多
关键词 peutz-jeghers综合征 全结肠切除 手术方式
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儿童Peutz-Jeghers综合征家系的基因突变 被引量:1
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作者 潘键 陈春燕 +3 位作者 李玫 张晓梅 朱明 刘炯 《医学研究生学报》 CAS 北大核心 2012年第9期933-937,共5页
目的 Peutz-Jeghers综合征是少见的常染色体显性遗传性疾病,患者特征性临床表现为口唇黑斑和肠道多发错构瘤性息肉。LKB1/STK11基因胚系突变与Peutz-Jeghers综合征的发病有密切关系。文中探讨1例Peutz-Jeghers综合征家系LKB1/STK11基因... 目的 Peutz-Jeghers综合征是少见的常染色体显性遗传性疾病,患者特征性临床表现为口唇黑斑和肠道多发错构瘤性息肉。LKB1/STK11基因胚系突变与Peutz-Jeghers综合征的发病有密切关系。文中探讨1例Peutz-Jeghers综合征家系LKB1/STK11基因的病理性突变。方法收集家系成员外周血,提取DNA,采用多重连接依赖性探针扩增(multiplex liga-tion-dependent probe amplification,MLPA)、PCR-变性高效液相色谱(denaturing high performance liquid chromatography,DHPLC)、DNA测序等方法分别检测LKB1/STK11基因大片段缺失、碱基突变、碱基插入和缺失。同时收集250名正常人外周血,提取DNA,用PCR-DHPLC筛查验证突变位点在正常人群中的分布。用生物信息学分析突变位点对编码蛋白质结构和功能的影响。结果家系中2名受累成员均携带LKB1/STK11基因c.924G>C位点的病理性胚系突变,导致Trp308Cys错义突变。结论 LKB1/STK11基因c.924G>C位点的病理性胚系突变是此家系的致病性因素。Peutz-Jeghers综合征家系中LKB1/STK11基因的胚系突变筛查可作为一种有效的手段来预测风险。 展开更多
关键词 peutz-jeghers综合征 LKB1/STK11基因 胚系突变 变性高效液相色谱 多重连接依赖性探针扩增
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Peutz-Jeghers综合征伴肠套叠2例报道及诊治分析 被引量:1
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作者 孙浩 李衍彦 +3 位作者 孔营 李耀锋 付敬伟 储宪群 《中国现代普通外科进展》 CAS 2021年第6期498-500,共3页
Peutz-Jeghers综合征(Peutz-Jephers syndrome,PJS)又称黑斑息肉综合征,由Peutz于1921年首次报道,是一种临床少见常染色体显性遗传性疾病,主要有皮肤黏膜黑斑、胃肠道多发错构瘤息肉和家族遗传性三大特征,发病率约为1/20万[1-2]。2016至... Peutz-Jeghers综合征(Peutz-Jephers syndrome,PJS)又称黑斑息肉综合征,由Peutz于1921年首次报道,是一种临床少见常染色体显性遗传性疾病,主要有皮肤黏膜黑斑、胃肠道多发错构瘤息肉和家族遗传性三大特征,发病率约为1/20万[1-2]。2016至2018年我院收治12例PJS并发肠套叠患者,现将其中2例典型病例诊疗经过报告如下。 展开更多
关键词 peutz-jeghers综合征 息肉 肠套叠
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Peutz-Jeghers综合征致肠套叠1例 被引量:2
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作者 尹朝 胡培欣 徐忠凯 《中国现代普通外科进展》 CAS 2018年第4期327-329,共3页
1病例资料患者女,20岁,因"下腹痛伴呕吐1 d"于2016年12月11日急诊入院。腹痛呈阵发性绞痛,程度剧烈,呕吐物为胃内容物,无排气排便停止,无便血。无家族性遗传性疾病史。体格检查:急性痛苦貌,口唇、颊黏膜及双手指掌可见多处黑色素沉... 1病例资料患者女,20岁,因"下腹痛伴呕吐1 d"于2016年12月11日急诊入院。腹痛呈阵发性绞痛,程度剧烈,呕吐物为胃内容物,无排气排便停止,无便血。无家族性遗传性疾病史。体格检查:急性痛苦貌,口唇、颊黏膜及双手指掌可见多处黑色素沉着(图1)。下腹部局限彭隆,可触及一大小约10 cm×8cm质韧包块,可移动,压痛明显;移动性浊音阴性,肠鸣音减弱。 展开更多
关键词 peutz-jeghers综合征 肠套叠
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