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儿童Peutz-Jeghers综合征研究现状
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作者 童琴(综述) 赵红梅(审校) 《中国当代儿科杂志》 CAS CSCD 北大核心 2024年第10期1122-1126,I0001,共6页
Peutz-Jeghers综合征(Peutz-Jeghers syndrome,PJS)是一种以皮肤黏膜色素沉着、胃肠道多发错构瘤性息肉为主要特征的肿瘤易感性常染色体显性遗传病,临床发病罕见,19号染色体短臂(19p13.3)上的丝氨酸/苏氨酸激酶11/肝激酶B1(serine/threo... Peutz-Jeghers综合征(Peutz-Jeghers syndrome,PJS)是一种以皮肤黏膜色素沉着、胃肠道多发错构瘤性息肉为主要特征的肿瘤易感性常染色体显性遗传病,临床发病罕见,19号染色体短臂(19p13.3)上的丝氨酸/苏氨酸激酶11/肝激酶B1(serine/threonine kinase 11/liver kinase B1,STK11/LKB1)是目前唯一确定的致病基因。该病可导致多种并发症,如消化道出血、肠套叠、肠梗阻、癌变等。儿童期以合并肠套叠危害最大,而反复肠套叠易增加外科手术风险,从而对患儿生长发育及生活质量产生巨大影响。该文对儿童PJS的临床特征、病因、发病机制、诊断及治疗等方面的研究现状作一概述。 展开更多
关键词 peutz-jeghers综合征 消化道息肉 儿童
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Global research landscape of Peutz-Jeghers syndrome and successful endoscopic management of intestinal intussusception in patients with recurrent laparotomies
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作者 Qi Sun Xiao-Ying Wang +5 位作者 Guang-Jin Guo Lei Wang Li-Min Meng Yun-Fei Guo Tao Sun Shou-Bin Ning 《World Journal of Gastrointestinal Surgery》 SCIE 2024年第8期2702-2718,共17页
BACKGROUND Peutz-Jeghers syndrome(PJS)has brought significant physical,psychological and economic burdens on the patients and their families due to its early onset,diagnostic and therapeutic challenges and increased r... BACKGROUND Peutz-Jeghers syndrome(PJS)has brought significant physical,psychological and economic burdens on the patients and their families due to its early onset,diagnostic and therapeutic challenges and increased recurrence risk.AIM To explore the current research status and emerging hotspots of PJS.METHODS Studies on PJS published during 1994-2023 were gathered based on Web of Science Core Collection.Additionally,a case of PJS-induced intestinal intussusception,successfully treated with endoscopic methods despite three laparotomies,was highlighted.Comprehensive bibliometric and visual analysis were conducted with VOSviewer,R and CiteSpace.RESULTS Altogether 1760 studies were identified,indicating a steady increase in the publication number.The United States had the highest influence,whereas the University of Helsinki emerged as the leading institution,and Aaltonen LA from the University of Helsinki was the most prolific author.Cancer Research,Oncogene and Endoscopy were the top three journals based on H-index.Keyword burst direction analysis revealed that"cancer risk","management","surveillance"and"familial pancreatic cancer"were the potential hotspots for investigation.Additionally,"early detection","capsule endoscopy","clinical management","double-balloon endoscopy","familial pancreatic cancer"and"molecular genetic basis"were identified as the key clusters of co-cited references.Endoscopic polypectomy remained effective on resolving intestinal intussusception in patients who underwent three previous laparotomies.CONCLUSION In the last three decades,global publications related to PJS show a steadily increasing trend in number.Endoscopic management is currently a research hotspot. 展开更多
关键词 peutz-jeghers syndrome ENDOSCOPY Management Cancer MICROBIOTA BIBLIOMETRIC
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Two missense STK11 gene variations impaired LKB1/adenosine monophosphate-activated protein kinase signaling in Peutz-Jeghers syndrome
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作者 Jin Liu Si-Cong Zeng +3 位作者 An Wang Hai-Ying Cheng Qian-Jun Zhang Guang-Xiu Lu 《World Journal of Gastrointestinal Oncology》 SCIE 2024年第4期1532-1546,共15页
BACKGROUND Peutz-Jeghers syndrome(PJS)is a rare hereditary neoplastic disorder mainly associated with serine/threonine kinase 11(STK11/LKB1)gene mutations.Preimplantation genetic testing can protect a patient’s offsp... BACKGROUND Peutz-Jeghers syndrome(PJS)is a rare hereditary neoplastic disorder mainly associated with serine/threonine kinase 11(STK11/LKB1)gene mutations.Preimplantation genetic testing can protect a patient’s offspring from mutated genes;however,some variations in this gene have been interpreted as variants of uncertain significance(VUS),which complicate reproductive decision-making in genetic counseling.AIM To identify the pathogenicity of two missense variants and provide clinical guidance.METHODS Whole exome gene sequencing and Sanger sequencing were performed on the peripheral blood of patients with PJS treated at the Reproductive and Genetic Hospital of Citic-Xiangya.Software was employed to predict the protein structure,conservation,and pathogenicity of the two missense variation sites in patients with PJS.Additionally,plasmids were constructed and transfected into HeLa cells to observe cell growth.The differences in signal pathway expression between the variant group and the wild-type group were compared using western blot and immunohistochemistry.Statistical analysis was performed using one-way analysis of variance.P<0.05 was considered statistically significant.RESULTS We identified two missense STK11 gene VUS[c.889A>G(p.Arg297Gly)and c.733C>T(p.Leu245Phe)]in 9 unrelated PJS families who were seeking reproductive assistance.The two missense VUS were located in the catalytic domain of serine/threonine kinase,which is a key structure of the liver kinase B1(LKB1)protein.In vitro experiments showed that the phosphorylation levels of adenosine monophosphate-activated protein kinase(AMPK)at Thr172 and LKB1 at Ser428 were significantly higher in transfected variation-type cells than in wild-type cells.In addition,the two missense STK11 variants promoted the proliferation of HeLa cells.Subsequent immunohistochemical analysis showed that phosphorylated-AMPK(Thr172)expression was significantly lower in gastric,colonic,and uterine polyps from PJS patients with missense variations than in non-PJS patients.Our findings indicate that these two missense STK11 variants are likely pathogenic and inactivate the STK11 gene,causing it to lose its function of regulating downstream phosphorylated-AMPK(Thr172),which may lead to the development of PJS.The identification of the pathogenic mutations in these two clinically characterized PJS patients has been helpful in guiding them toward the most appropriate mode of pregnancy assistance.CONCLUSION These two missense variants can be interpreted as likely pathogenic variants that mediated the onset of PJS in the two patients.These findings not only offer insights for clinical decision-making,but also serve as a foundation for further research and reanalysis of missense VUS in rare diseases. 展开更多
关键词 MISSENSE STK11 peutz-jeghers syndrome Rare disease Genetic counseling Assisted reproductive technique
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内镜下切除儿童Peutz-Jeghers综合征巨大息肉效果及安全性分析 被引量:2
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作者 王凤革 石步云 +2 位作者 黄志华 朱珍妮 伍代琴 《临床儿科杂志》 CAS CSCD 北大核心 2023年第11期820-826,862,共8页
目的探讨Peutz-Jeghers综合征(PJS)患儿的临床特点及内镜下切除患儿PJS巨大息肉的有效性及安全性。方法回顾性分析自2019年1月至2022年8月于儿童消化科住院治疗的11例PJS患儿的临床资料。结果患儿首次入院平均年龄为(8.7±3.0)岁,... 目的探讨Peutz-Jeghers综合征(PJS)患儿的临床特点及内镜下切除患儿PJS巨大息肉的有效性及安全性。方法回顾性分析自2019年1月至2022年8月于儿童消化科住院治疗的11例PJS患儿的临床资料。结果患儿首次入院平均年龄为(8.7±3.0)岁,所有患儿均有口唇、指、趾端黑斑(100%)。双气囊小肠镜(DBE)检查16次,2例患儿完成全消化道检查,发现>3 cm息肉共18枚,小肠12枚(66.7%)、胃1枚、结肠5枚,分别于胃镜、DBE、结肠镜下切除。经口小肠镜患儿术后均有咽痛(100%),腹胀2例次,呕吐1例次,迟发性出血1例次,未出现严重并发症。结论DBE可有效清除消化道息肉,对儿童PJS的治疗具有一定安全性。 展开更多
关键词 peutz-jeghers综合征 巨大息肉 双气囊小肠镜 儿童
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儿童Peutz-Jeghers综合征内镜下治疗策略 被引量:1
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作者 杨洪彬 方莹 《临床儿科杂志》 CAS CSCD 北大核心 2023年第11期808-810,845,共4页
Peutz-Jeghers综合征(Peutz-Jeghers syndrome,PJS)在儿童时期的危害主要是息肉相关并发症,消化道反复生长的、多发的、巨大息肉引起肠套叠或肠梗阻,往往需要多次外科开腹手术治疗。随着儿童消化内镜技术的发展,预防性切除胃肠道息肉,... Peutz-Jeghers综合征(Peutz-Jeghers syndrome,PJS)在儿童时期的危害主要是息肉相关并发症,消化道反复生长的、多发的、巨大息肉引起肠套叠或肠梗阻,往往需要多次外科开腹手术治疗。随着儿童消化内镜技术的发展,预防性切除胃肠道息肉,极大地降低了PJS患者在儿童时期的开腹率。文章对儿童PJS患者内镜术前诊断、检查时机、术前评估、治疗原则、治疗技巧及术后管理等进行概述,以期为儿童PJS内镜治疗提供参考。 展开更多
关键词 peutz-jeghers综合征 儿童 内镜下治疗
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Three cases of Solitary Peutz-Jeghers-type hamartomatous polyp in the duodenum 被引量:3
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作者 Seiyuu Suzuki Shoji Hirasaki +3 位作者 Fusao Ikeda Eiichiro Yumoto Hiromichi Yamane Minoru Matsubara 《World Journal of Gastroenterology》 SCIE CAS CSCD 2008年第6期944-947,共4页
A solitary Peutz-Jeghers-type hamartomatous polyp in the duodenum is rare, and few reports have described its characteristic endoscopic features. We describe three cases of solitary Peutz-Jeghers-type hamartomatous po... A solitary Peutz-Jeghers-type hamartomatous polyp in the duodenum is rare, and few reports have described its characteristic endoscopic features. We describe three cases of solitary Peutz-Jeghers-type hamartomatous polyp and their endoscopic findings in detail. The polyp in all of our three cases showed an irregularly lobular or nodular surface, whereas adenomas often show a regularly nodular or granular surface. The color of the polyp was whitish in all of our cases. In the present cases, close observation by endoscopy revealed that the solitary Peutz-Jeghers-type hamartomatous polyps looked whitish because of the presence of diffusely scattered white spots on the surface of the polyps. Duodenal polyps that exhibit the aforementioned endoscopic characteristics may be diagnosed as Peutz-Jeghers-type hamartomatous polyps and treated by polypectomy because of the malignant potential. 展开更多
关键词 Duodenal polyp HAMARTOMA peutz-jeghers polyp
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孤立性Peutz-Jeghers型错构瘤性息肉1例
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作者 李莉 曹海军 《浙江医学》 CAS 2023年第6期645-646,I0007,共3页
临床上直肠黏膜下孤立性Peutz-Jeghers型错构瘤性息肉(SHP)较为罕见,在内镜下很难与黏膜下病变和其他类型息肉进行区分,目前临床报道较少。浙江省中医院消化科于2020年8月18日收治1例SHP,超声内镜检查误诊为脂肪瘤,最终经内镜下黏膜切... 临床上直肠黏膜下孤立性Peutz-Jeghers型错构瘤性息肉(SHP)较为罕见,在内镜下很难与黏膜下病变和其他类型息肉进行区分,目前临床报道较少。浙江省中医院消化科于2020年8月18日收治1例SHP,超声内镜检查误诊为脂肪瘤,最终经内镜下黏膜切除术后病理学检查明确诊断。 展开更多
关键词 peutz-jeghers型错构瘤性息肉 peutz-jeghers综合征 临床病理 免疫组织化学
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Peutz-Jeghers综合征伴癌变、直肠脱垂1例
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作者 王志远 高峰 《现代消化及介入诊疗》 2023年第11期1341-1342,共2页
Peutz-Jeghers综合征(Peutz-Jeghers syndrome,PJS)是一种罕见的常染色体显性遗传疾病,以皮肤黏膜色素沉着、多发性消化道错构瘤性息肉为主要特征,同时增加了恶性肿瘤发生风险[1]。与PJS相关的恶性肿瘤可分为胃肠道型和非胃肠道型,其中... Peutz-Jeghers综合征(Peutz-Jeghers syndrome,PJS)是一种罕见的常染色体显性遗传疾病,以皮肤黏膜色素沉着、多发性消化道错构瘤性息肉为主要特征,同时增加了恶性肿瘤发生风险[1]。与PJS相关的恶性肿瘤可分为胃肠道型和非胃肠道型,其中,结直肠癌是PJS患者中最常见的胃肠道恶性肿瘤,有研究报道[2],PJS患者结直肠癌患病风险高达39%,并且随着年龄的增加而增加。直肠脱垂是指肛管、直肠、甚至乙状结肠向下移位而脱垂于肛门外的一种慢性疾病[3]. 展开更多
关键词 peutz-jeghers综合征 直肠癌 直肠脱垂
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Clinical features,diagnosis,and treatment of Peutz-Jeghers syndrome:Experience with 566 Chinese cases 被引量:7
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作者 Zu-Xin Xu Li-Xin Jiang +6 位作者 Yu-Rui Chen Yu-Hui Zhang Zhi Zhang Peng-Fei Yu Zhi-Wei Dong Hai-Rui Yang Guo-Li Gu 《World Journal of Gastroenterology》 SCIE CAS 2023年第10期1627-1637,共11页
BACKGROUND Peutz-Jeghers syndrome(PJS)is a clinically rare disease with pigmented spots on the lips and mucous membranes and extremities,scattered gastrointestinal polyps,and susceptibility to tumors as clinical manif... BACKGROUND Peutz-Jeghers syndrome(PJS)is a clinically rare disease with pigmented spots on the lips and mucous membranes and extremities,scattered gastrointestinal polyps,and susceptibility to tumors as clinical manifestations.Effective preventive and curative methods are still lacking.Here we summarize our experience with 566 Chinese patients with PJS from a Chinese medical center with regard to the clinical features,diagnosis,and treatment.AIM To explore the clinical features,diagnosis,and treatment of PJS in a Chinese medical center.METHODS The diagnosis and treatment information of 566 cases of PJS admitted to the Air Force Medical Center from January 1994 to October 2022 was summarized.A clinical database was established covering age,gender,ethnicity,family history,age at first treatment,time and sequence of appearance of mucocutaneous pigmentation,polyp distribution,quantity,and diameter,frequency of hospitalization,fre-quency of surgical operations,etc.The clinical data was retrospectively analyzed using SPSS 26.0 software,with P<0.05 considered statistically significant.RESULTS Of all the patients included,55.3%were male and 44.7%were female.Median time to the appearance of mucocutaneous pigmentation was 2 years,and median time from the appearance of mucocutaneous pigmentation to the occurrence of abdominal symptoms was 10 years.The vast majority(92.2%)of patients underwent small bowel endoscopy and treatment,with 2.3%having serious complications.There was a statistically significant difference in the number of enteroscopies between patients with and without canceration(P=0.004,Z=-2.882);71.2%of patients underwent surgical operation,75.6%of patients underwent surgical operation before the age of 35 years,and there was a statistically significant difference in the frequency of surgical operations between patients with and without cancer(P=0.000,Z=-5.127).At 40 years of age,the cumulative risk of intussusception in PJS was approximately 72.0%,and at 50 years,the cumulative risk of intussusception in PJS was approximately 89.6%.At 50 years of age,the cumulative risk of cancer in PJS was approximately 49.3%,and at 60 years of age,the cumulative risk of cancer in PJS was approximately 71.7%.CONCLUSION The risk of intussusception and cancer of PJS polyps increases with age.PJS patients≥10 years old should undergo annual enteroscopy.Endoscopic treatment has a good safety profile and can reduce the occurrence of polyps intussusception and cancer.Surgery should be conducted to protect the gastrointestinal system by removing polyps. 展开更多
关键词 peutz-jeghers syndrome Management INTUSSUSCEPTION CANCERATION STK11
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Peutz-Jeghers syndrome without STK11 mutation may correlate with less severe clinical manifestations in Chinese patients 被引量:2
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作者 Li-Xin Jiang Yu-Rui Chen +6 位作者 Zu-Xin Xu Yu-Hui Zhang Zhi Zhang Peng-Fei Yu Zhi-Wei Dong Hai-Rui Yang Guo-Li Gu 《World Journal of Gastroenterology》 SCIE CAS 2023年第21期3302-3317,共16页
BACKGROUND Peutz-Jeghers syndrome(PJS) is an autosomal dominant genetic disease with skin mucosal pigment spots and gastrointestinal(GI) multiple hamartoma polyps as clinical characteristics. At present, it is conside... BACKGROUND Peutz-Jeghers syndrome(PJS) is an autosomal dominant genetic disease with skin mucosal pigment spots and gastrointestinal(GI) multiple hamartoma polyps as clinical characteristics. At present, it is considered that the germline mutation of STK11 gene is the genetic cause of PJS. However, not all PJS patients can be detected STK11 germline mutations. The specific clinical characteristics of these PJS patients without STK11 mutation is an interesting clinical question. Or, like wild type GI stromal tumor, whether these PJS without STK11 mutation are also called PJS is worth discussing. Therefore, we designed the study to understand the clinical characteristics of these PJS patients without STK11 mutation.AIM To investigates whether PJS patients with known STK11 mutations have a more severe spectrum of clinical phenotypes compared to those without.METHODS A total of 92 patients with PJS admitted to the Air Force Medical Center from 2010 to 2022 were randomly selected for study. Genomic DNA samples were extracted from peripheral blood samples, and pathogenic germline mutations of STK11 were detected by high-throughput next-generation gene sequencing. Clinicalpathologic manifestations of patients with and without STK11/LKB1 mutations were compared.RESULTS STK11 germline mutations were observed in 73 patients with PJS. Among 19 patients with no detectable STK11 mutations, six had no pathogenic germline mutations of other genes, while 13 had other genetic mutations. Compared with PJS patients with STK11 mutations, those without tended to be older at the age of initial treatment, age of first intussusception and age of initial surgery. They also had a lower number of total hospitalizations relating to intussusception or intestinal obstruction, and a lower load of small intestine polyps.CONCLUSION PJS patients without STK11 mutations might have less severe clinical-pathologic manifestations than those with. 展开更多
关键词 peutz-jeghers syndrome STK11 Mutant type Wild type
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Peutz-Jeghers综合征的临床病理特点、诊断及鉴别诊断(附18例分析)
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作者 郑玉平 叶静 +3 位作者 张璐璐 乌肖林 金木兰 周成军 《山东医药》 CAS 2023年第24期74-77,共4页
目的 总结Peutz-Jeghers综合征(PJs)的临床病理特点、诊断及鉴别诊断方法。方法 回顾性分析18例PJs患者的临床病理资料。结果 18例患者均查见多发消化道息肉,15例有不同程度的皮肤黏膜色素斑,5例有明确的家族史。18例均有诊断明确的PJ息... 目的 总结Peutz-Jeghers综合征(PJs)的临床病理特点、诊断及鉴别诊断方法。方法 回顾性分析18例PJs患者的临床病理资料。结果 18例患者均查见多发消化道息肉,15例有不同程度的皮肤黏膜色素斑,5例有明确的家族史。18例均有诊断明确的PJ息肉,9例伴有假浸润,3例假浸润腺体形成黏液性囊肿;18例中有4例伴发腺瘤,3例伴发恶性肿瘤(2例为息肉恶变,1例合并甲状腺癌)。18例均符合PJs。PJ息肉中假浸润的腺体呈小叶状,无异型性及间质反应,P53、Ki67表达于小叶状腺体的周边,黏液囊肿内的上皮细胞无异型性,结合临床特点,可以与普通浸润性腺癌、黏液腺癌及其他类型的错构瘤性息肉病鉴别。结论 PJs以皮肤黏膜色素斑、多发胃肠道息肉和家族遗传为特点,PJ息肉典型的组织学特点是树枝状增生的平滑肌束,表面被覆黏膜组织形成小叶状结构;典型的组织学特点结合明确的临床特点(皮肤黏膜色素斑、家族史)即可作出PJs的诊断;典型的PJs临床、病理特点有助于和浸润性腺癌及其他类型的错构瘤性息肉病进行鉴别。 展开更多
关键词 peutz-jeghers综合征 PJ息肉 普通浸润性腺癌 黏液腺癌 错构瘤性息肉病
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Clinical features, endoscopic polypectomy and STK11 gene mutation in a nine-month-old Peutz-Jeghers syndrome Chinese infant 被引量:7
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作者 Zhi-Heng Huang Zai Song +2 位作者 Ping Zhang Jie Wu Ying Huang 《World Journal of Gastroenterology》 SCIE CAS 2016年第11期3261-3267,共7页
AIM: To investigate multiple polyps in a Chinese PeutzJeghers syndrome(PJS) infant. METHODS: A nine-month-old PJS infant was admitted to our hospital for recurrent prolapsed rectal polyps for one month. The clinical c... AIM: To investigate multiple polyps in a Chinese PeutzJeghers syndrome(PJS) infant. METHODS: A nine-month-old PJS infant was admitted to our hospital for recurrent prolapsed rectal polyps for one month. The clinical characteristics, a colonoscopic image, the pathological characteristics of the polyps and X-ray images of the intestinal perforation were obtained. Serine threonine-protein kinase 11(STK11) gene analysis was also performed using a DNA sample from this infant.RESULTS: Here we describe the youngest known Chinese infant with PJS. Five polyps, including a giant polyp of approximately 4 cm × 2 cm in size, were removed from the infant's intestine. Laparotomy was performed to repair a perforation caused by pneumoperitoneum. The pathological results showed that this child had PJS. Molecular analysis of the STK11 gene further revealed a novel frameshift mutation(c.64_65het_del AT) in exon 1 in this PJS infant.CONCLUSION: The appropriate treatment method for multiple polyps in an infant must be carefully considered. Our results also show that the STK11 gene mutation is the primary cause of PJS. 展开更多
关键词 peutz-jeghers syndrome PERFORATION STK11 gene CHINESE INFANT polypS
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Endoscopic snare papillectomy for a solitary Peutz-Jeghers-type polyp in the duodenum with ingrowth into the common bile duct: Case report 被引量:1
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作者 Keiichi Suzuki Hajime Higuchi +3 位作者 Sayaka Shimizu Masaru Nakano Hiroshi Serizawa Shojiro Morinaga 《World Journal of Gastroenterology》 SCIE CAS 2015年第26期8215-8220,共6页
Solitary duodenal Peutz-Jeghers(PJ)-type hamartomatous polyps are rare and considered a different disease entity than classic PJ syndrome.We describe the case of an 89-year-old man admitted to our emergency department... Solitary duodenal Peutz-Jeghers(PJ)-type hamartomatous polyps are rare and considered a different disease entity than classic PJ syndrome.We describe the case of an 89-year-old man admitted to our emergency department with symptoms of acute cholangitis,liver dysfunction,and slight jaundice.Magnetic resonance imaging showed multiple signal voids,reflecting choledocholithiasis,and an ovalshaped tumor in the common bile duct(CBD).Following endoscopic retrograde cholangiopancreatography,the patient was diagnosed with a lower CBD tumor 20 mm in diameter.Endoscopic sphincterotomy was performed for choledocholithotomy,resulting in the expulsion of a large tumor with a stalk connected to the papilla of Vater.The tumor was successfully excised en bloc by endoscopic snare papillectomy.Histopathologic examination showed that the tumor was a PJ-type hamartomatous polyp.No mucocutaneous pigmentation of the skin was evident and the patient's family history was negative.Solitary duodenal PJ-type hamartomatous polyps are usually diagnosed incidentally during endoscopy for other indications because most of these tumors are asymptomatic or have nonspecific presentations.To our knowledge,this is the first reported solitary PJ-type polyp with intra-CBD growth treated by endoscopic snare papillectomy. 展开更多
关键词 Acute cholangitis HAMARTOMA Jaundice peutz-jeghers polyp DUODENUM polyp
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Peutz-Jeghers综合征合并巨大结肠息肉应用STER治疗1例
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作者 石晨 吕华胜 +2 位作者 边姗姗 孟悦 姚萍 《临床医学进展》 2023年第5期7525-7530,共6页
患者男性,17岁,因“偶有腹痛9年”就诊。体格检查发现:口唇、口腔黏膜、手掌、脚掌可见散在点状黑斑,1~3 mm,边界清晰,压之不褪色;下腹部可见长约15 cm陈旧性手术瘢痕,无压痛及反跳痛,以“Peutz-Jeghers综合征”收住入院。入院后完善电... 患者男性,17岁,因“偶有腹痛9年”就诊。体格检查发现:口唇、口腔黏膜、手掌、脚掌可见散在点状黑斑,1~3 mm,边界清晰,压之不褪色;下腹部可见长约15 cm陈旧性手术瘢痕,无压痛及反跳痛,以“Peutz-Jeghers综合征”收住入院。入院后完善电子胃肠镜,见巨大结肠息肉,经综合评估后行经黏膜下隧道结肠病损切除术(Submucosal Tunneling Endoscopic Resection, STER)治疗,术后病理示Peutz-Jeghers息肉。Peutz-Jeghers (Peutz-Jeghers syndrome, PJS)综合征易发生消化道错构瘤性息肉,切除胃肠道息肉是治疗的关键,治疗方法包括内镜治疗和外科手术治疗。随着内镜技术的成熟,对于无严重并发症的胃肠道息肉,首选的治疗方法是内镜下息肉切除。通过对该病例的介绍,进一步提高对PJS综合征的认识,为同类患者的内镜下治疗提供参考。 展开更多
关键词 peutz-jeghers综合征 结肠息肉 经黏膜下隧道结肠病损切除术
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Peutz-Jeghers综合征1例
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作者 王萌 潘云 +1 位作者 李正金 赵立仙 《临床与病理杂志》 CAS 2023年第11期2052-2055,共4页
Peutz-Jeghers综合征(Peutz-Jeghers syndrome,PJS)是一种常染色体显性遗传病,以胃肠道息肉病和皮肤黏膜色素沉着为特征。患者可表现为腹痛、腹胀、贫血等非特异性症状。本文报道1例21岁女性患者,结肠有多发性息肉,口唇、手掌、足底等... Peutz-Jeghers综合征(Peutz-Jeghers syndrome,PJS)是一种常染色体显性遗传病,以胃肠道息肉病和皮肤黏膜色素沉着为特征。患者可表现为腹痛、腹胀、贫血等非特异性症状。本文报道1例21岁女性患者,结肠有多发性息肉,口唇、手掌、足底等部位有皮肤色素斑;光镜下息肉呈绒毛状结构,表面被覆正常黏膜腺体,轴心由树枝状平滑肌构成。通过对该患者的分析,总结PJS的临床病理学特征、组织形态、诊断与鉴别诊断以及基因改变的研究进展,以提高对该综合征的认识。 展开更多
关键词 peutz-jeghers综合征 肠道息肉 色素斑 常染色体显性遗传病
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注水小肠镜下黏膜切除术治疗Peutz-Jeghers综合征息肉的临床应用
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作者 张静 张燕双 +6 位作者 李白容 宁守斌 田芝雷 于妍 孙明振 王秀芳 尹旭飞 《现代消化及介入诊疗》 2023年第3期291-294,299,共5页
目的探讨注水小肠镜下治疗Peutz-Jeghers综合征(PJS)肠道息肉的有效性及安全性。方法选取2021年4月至2022年10月空军特色医学中心由一名特定医师完成的小肠镜下治疗PJS息肉的患者为研究对象,将患者分为注水小肠镜组和普通注气小肠镜组,... 目的探讨注水小肠镜下治疗Peutz-Jeghers综合征(PJS)肠道息肉的有效性及安全性。方法选取2021年4月至2022年10月空军特色医学中心由一名特定医师完成的小肠镜下治疗PJS息肉的患者为研究对象,将患者分为注水小肠镜组和普通注气小肠镜组,对两组患者年龄、性别、肠道息肉切除情况、术中术后并发症、住院天数及住院费用等进行比较。结果共84例PJS患者纳入分析,注水小肠镜组49例患者,普通注气小肠镜组35例患者。两组患者在年龄、性别、切除息肉情况、住院天数及住院费用方面均没有统计学差异。注水组小肠镜治疗术中及术后总并发症发生率明显低于注气组,差异有统计学意义(0%vs 20%,P=0.001)。结论注水法小肠镜可降低Peutz-Jeghers综合征肠道息肉治疗并发症的发生,值得临床应用及推广。 展开更多
关键词 小肠息肉 注水双气囊辅助小肠镜 黏膜切除术 peutz-jeghers综合征
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Effect of nursing intervention on rehabilitation of patients with chronic sinusitis and nasal polyps after nasal endoscopy 被引量:1
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作者 Hui Xu Miao Pan Lin Zhu 《World Journal of Clinical Cases》 SCIE 2024年第19期3785-3790,共6页
BACKGROUND Chronic sinusitis is a kind of chronic suppurative inflammation of the sinus mucosa.Nasal endoscopy is a good method to treat nasal polyps.However postoperative rehabilitation and care should not be neglect... BACKGROUND Chronic sinusitis is a kind of chronic suppurative inflammation of the sinus mucosa.Nasal endoscopy is a good method to treat nasal polyps.However postoperative rehabilitation and care should not be neglected.AIM To investigate the Effect of nursing intervention on the rehabilitation of patients with chronic sinusitis and nasal polyps(CSNPS)after nasal endoscopy.METHODS A total of 129 patients with CSNPS hospitalized from February 2017 to February 2019 were studied.Using the digital parity method,we investigated nursing cooperation strategies for endoscopic surgery.The comparison group(64 cases):Surgical nursing was carried out with traditional nursing measures;experimental group(65 cases):Surgical nursing was carried out by traditional nursing countermeasures+comprehensive nursing measures.We compared postoperative recovery rates,nursing satisfaction rates,and nasal cavity ratings between the two groups.RESULTS Experimental group patients with CSNPS had a significantly higher recovery rate(98.46%)compared to the control group(79.69%).This difference was statistically significant(χ2=11.748,P<0.05).Additionally,the satisfaction rate with treatment was also significantly higher in the experimental group(98.46%)compared to the control group(79.69%),with a statistically significant difference(χ2=11.748,P<0.05).Before nursing,there was no significant difference in sinus nasal cavity scores between the experimental group(20.29±7.25 points)and the control group(20.30±7.27 points)(t=0.008,P>0.05).However,after nursing,the sinus nasal cavity score in the experimental group(8.85±3.22 points)was significantly lower than that in the control group(14.99±5.02 points)(t=8.282,P<0.05).CONCLUSION Comprehensive nursing intervention in patients with CSNPS can significantly improve the total recovery rate after endoscopic surgery. 展开更多
关键词 Chronic sinusitis Nasal polyps Endoscopic surgery Comprehensive nursing Clinical effect
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Transient elastography with controlled attenuation parameter for the diagnosis of colorectal polyps in patients with nonalcoholic fatty liver disease 被引量:1
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作者 Lan Wang Yan-Fei Li Li-Feng Dong 《World Journal of Clinical Cases》 SCIE 2024年第12期2050-2055,共6页
BACKGROUND The severity of nonalcoholic fatty liver disease(NAFLD)and lipid metabolism are related to the occurrence of colorectal polyps.Liver-controlled attenuation parameters(liver-CAPs)have been established to pre... BACKGROUND The severity of nonalcoholic fatty liver disease(NAFLD)and lipid metabolism are related to the occurrence of colorectal polyps.Liver-controlled attenuation parameters(liver-CAPs)have been established to predict the prognosis of hepatic steatosis patients.AIM To explore the risk factors associated with colorectal polyps in patients with NAFLD by analyzing liver-CAPs and establishing a diagnostic model.METHODS Patients who were diagnosed with colorectal polyps in the Department of Gastroenterology of our hospital between June 2021 and April 2022 composed the case group,and those with no important abnormalities composed the control group.The area under the receiver operating characteristic curve was used to predict the diagnostic efficiency.Differences were considered statistically significant when P<0.05.RESULTS The median triglyceride(TG)and liver-CAP in the case group were significantly greater than those in the control group(mmol/L,1.74 vs 1.05;dB/m,282 vs 254,P<0.05).TG and liver-CAP were found to be independent risk factors for colorectal polyps,with ORs of 2.338(95%CI:1.154–4.733)and 1.019(95%CI:1.006–1.033),respectively(P<0.05).And there was no difference in the diagnostic efficacy between liver-CAP and TG combined with liver-CAP(TG+CAP)(P>0.05).When the liver-CAP was greater than 291 dB/m,colorectal polyps were more likely to occur.CONCLUSION The levels of TG and liver-CAP in patients with colorectal polyps are significantly greater than those patients without polyps.Liver-CAP alone can be used to diagnose NAFLD with colorectal polyps. 展开更多
关键词 Colorectal polyps Nonalcoholic fatty liver disease Liver-controlled attenuation parameter Liver fibroscan Diagnostic model
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Predictive factors and model validation of post-colon polyp surgery Helicobacter pylori infection 被引量:1
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作者 Zheng-Sen Zhang 《World Journal of Gastrointestinal Surgery》 SCIE 2024年第1期173-185,共13页
BACKGROUND Recently,research has linked Helicobacter pylori(H.pylori)stomach infection to colonic inflammation,mediated by toxin production,potentially impacting colorectal cancer occurrence.AIM To investigate the ris... BACKGROUND Recently,research has linked Helicobacter pylori(H.pylori)stomach infection to colonic inflammation,mediated by toxin production,potentially impacting colorectal cancer occurrence.AIM To investigate the risk factors for post-colon polyp surgery,H.pylori infection,and its correlation with pathologic type.METHODS Eighty patients who underwent colon polypectomy in our hospital between January 2019 and January 2023 were retrospectively chosen.They were then randomly split into modeling(n=56)and model validation(n=24)sets using R.The modeling cohort was divided into an H.pylori-infected group(n=37)and an H.pylori-uninfected group(n=19).Binary logistic regression analysis was used to analyze the factors influencing the occurrence of H.pylori infection after colon polyp surgery.A roadmap prediction model was established and validated.Finally,the correlation between the different pathological types of colon polyps and the occurrence of H.pylori infection was analyzed after colon polyp surgery.RESULTS Univariate results showed that age,body mass index(BMI),literacy,alcohol consumption,polyp pathology type,high-risk adenomas,and heavy diet were all influential factors in the development of H.pylori infection after intestinal polypectomy.Binary multifactorial logistic regression analysis showed that age,BMI,and type of polyp pathology were independent predictors of the occurrence of H.pylori infection after intestinal polypectomy.The area under the receiver operating characteristic curve was 0.969[95%confidence interval(95%CI):0.928–1.000]and 0.898(95%CI:0.773–1.000)in the modeling and validation sets,respectively.The slope of the calibration curve of the graph was close to 1,and the goodness-of-fit test was P>0.05 in the two sets.The decision analysis curve showed a high rate of return in both sets.The results of the correlation analysis between different pathological types and the occurrence of H.pylori infection after colon polyp surgery showed that hyperplastic polyps,inflammatory polyps,and the occurrence of H.pylori infection were not significantly correlated.In contrast,adenomatous polyps showed a significant positive correlation with the occurrence of H.pylori infection.CONCLUSION Age,BMI,and polyps of the adenomatous type were independent predictors of H.pylori infection after intestinal polypectomy.Moreover,the further constructed column-line graph prediction model of H.pylori infection after intestinal polypectomy showed good predictive ability. 展开更多
关键词 Colon polyps Helicobacter pylori Risk factors Pathologic type Columnar graphic modeling
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Association between triglyceride-glucose index and colorectal polyps:A retrospective cross-sectional study 被引量:1
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作者 Ya-Jie Teng Ying-Xue Yang +5 位作者 Jing-Jing Yang Qiu-Yan Lu Jia-Yi Shi Jian-Hao Xu Jie Bao Qing-Hua Wang 《World Journal of Gastrointestinal Endoscopy》 2024年第2期55-63,共9页
BACKGROUND Colorectal polyps(CPs)are frequently occurring abnormal growths in the colorectum,and are a primary precursor of colorectal cancer(CRC).The triglyceride-glucose(TyG)index is a novel marker that assesses met... BACKGROUND Colorectal polyps(CPs)are frequently occurring abnormal growths in the colorectum,and are a primary precursor of colorectal cancer(CRC).The triglyceride-glucose(TyG)index is a novel marker that assesses metabolic health and insulin resistance,and has been linked to gastrointestinal cancers.AIM To investigate the potential association between the TyG index and CPs,as the relation between them has not been documented.METHODS A total of 2537 persons undergoing a routine health physical examination and colonoscopy at The First People's Hospital of Kunshan,Jiangsu Province,China,between January 2020 and December 2022 were included in this retrospective cross-sectional study.After excluding individuals who did not meet the eligibility criteria,descriptive statistics were used to compare characteristics between patients with and without CPs.Logistic regression analyses were conducted to determine the associations between the TyG index and the prevalence of CPs.The TyG index was calculated using the following formula:Ln[triglyceride(mg/dL)×glucose(mg/dL)/2].The presence and types of CPs was determined based on data from colonoscopy reports and pathology reports.RESULTS A nonlinear relation between the TyG index and the prevalence of CPs was identified,and exhibited a curvilinear pattern with a cut-off point of 2.31.A significant association was observed before the turning point,with an odds ratio(95% confidence interval)of 1.70(1.40,2.06),P<0.0001.However,the association between the TyG index and CPs was not significant after the cut-off point,with an odds ratio(95% confidence interval)of 0.57(0.27,1.23),P=0.1521.CONCLUSION Our study revealed a curvilinear association between the TyG index and CPs in Chinese individuals,suggesting its potential utility in developing colonoscopy screening strategies for preventing CRC. 展开更多
关键词 Triglyceride-glucose index Colorectal polyps Colorectal cancer Insulin resistance Cross-sectional study
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