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
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
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
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
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
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
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
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
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
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
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
基金Capital Health Development Research Special Project,No.2020-4-5123.
文摘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.
基金Supported by the Natural Science Foundation of Hunan Province,China,No.2023JJ30422.
文摘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.
文摘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.
基金Supported by Beijing Capital Medical Development Research Fund,No.Shoufa2020-2-5122Outstanding Young Talents Program of Air Force Medical Center,PLA,No.22BJQN004Clinical Program of Air Force Medical University,No.Xiaoke2022-07.
文摘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.
基金Beijing Capital Medical Development Research Fund, No. Shoufa2020-2-5122Outstanding Young Talents Program of Air Force Medical Center, PLA, No. 22BJQN004Clinical Program of Air Force Medical University, No. Xiaoke2022-07
文摘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.
文摘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.
文摘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.
文摘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.
基金Supported by the Special Research Project of the Capital’s Health Development,No.2024-3-7037and the Beijing Clinical Key Specialty Project.
文摘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.
文摘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.
基金Supported by Suzhou Municipal Science and Technology Program of China,No.SKJY2021012.
文摘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.