Clinical features,diagnosis,and treatment of Peutz-Jeghers syndrome:Experience with 566 Chinese cases

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.

Analysis of clinicopathological features and prognostic factors of breast cancer brain metastasis

BACKGROUND Breast cancer(BC)has become the most common malignancy in women.The incidence and detection rates of BC brain metastasis(BCBM)have increased with the progress of imaging,multidisciplinary treatment techniques and the extension of survival time of BC patients.BM seriously affects the quality of life and survival prognosis of BC patients.Therefore,clinical research on the clinicopathological features and prognostic factors of BCBM is valuable.By analyzing the clinicopathological parameters of BCBM patients,and assessing the risk factors and prognostic indicators,we can perform hierarchical diagnosis and treatment on the high-risk population of BCBM,and achieve clinical benefits of early diagnosis and treatment.AIM To explore the clinicopathological features and prognostic factors of BCBM,and provide references for diagnosis,treatment and management of BCBM.METHODS The clinicopathological data of 68 BCBM patients admitted to the Air Force Medical Center,Chinese People’s Liberation Army(formerly Air Force General Hospital)from 2000 to 2022 were collected.Another 136 BC patients without BM were matched at a ratio of 1:2 based on the age and site of onset for retrospective analysis.Categorical data were subjected to χ^(2) test or Fisher’s exact probability test,and the variables with P<0.05 in the univariate Cox proportional hazards model were incorporated into the multivariate model to identify high-risk factors and independent prognostic factors of BCBM,with a hazard ratio(HR)>1 suggesting poor prognostic factors.The survival time of patients was estimated by the Kaplan-Meier method,and overall survival was compared between groups by log-rank test.RESULTS Multivariate Cox regression analysis showed that patients with stage Ⅲ/Ⅳ tumor at initial diagnosis[HR:5.58,95% confidence interval(CI):1.99–15.68],lung metastasis(HR:24.18,95%CI:6.40-91.43),human epidermal growth factor receptor 2(HER2)-overexpressing BC and triple-negative BC were more prone to BM.As can be seen from the prognostic data,52 of the 68 BCBM patients had died by the end of follow-up,and the median time from diagnosis of BC to the occurrence of BM and from the occurrence of BM to death or last follow-up was 33.5 and 14 mo,respectively.It was confirmed by multivariate Cox regression analysis that patients with neurological symptoms(HR:1.923,95%CI:1.005-3.680),with bone metastasis(HR:2.011,95%CI:1.056-3.831),and BM of HER2-overexpressing and triple-negative BC had shorter survival time.CONCLUSION HER2-overexpressing,triple-negative BC,late tumor stage and lung metastasis are risk factors of BM.The presence of neurological symptoms,bone metastasis,and molecular type are influencing prognosis factors of BCBM.

Peutz-Jeghers syndrome without STK11 mutation may correlate with less severe clinical manifestations in Chinese patients

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.

Gastric outlet obstruction caused by heterotopic pancreas:A case report and a quick review

与恶心介绍的一个 46 岁的中国女人，周期性的呕吐，并且腹的疼痛。胃与十二指肠的内视镜的检查在胃的以后的墙上在幽门前区域揭示了一个卵形形状的粘膜下层肿瘤。一个堕落胃肠的基质肿瘤被怀疑。远侧的胃切除术被执行，异种话题胰(HP ) 的组织学的诊断被证实。病人有一堂平静手术后的功课并且被解除在手术以后的 7 d。病人仍然保持在 6 瞬间的后续健康、没有症状。这是胃的插头阻塞在一个成年女人从胰腺的异位导致胃的窦的一个案例的一份报告。

Endoscopic full-thickness resection and laparoscopic surgery for treatment of gastric stromal tumors

AIM: To assess the effectiveness of endoscopic fullthickness resection(EFR) and laparoscopic surgery in the treatment of gastric stromal tumors arising from the muscularis propria.METHODS: Out of 62 gastric stromal tumors arising from the muscularis propria, each > 1.5 cm in diameter, 32 were removed by EFR, and 30 were removed by laparoscopic surgery. The tumor expression of CD34, CD117, Dog-1, S-100, and SMA was assessed immunohistochemically. The operative time, complete resection rate, length of hospital stay, incidence of complications, and recurrence rate were compared between the two groups. Continuous data were compared using in-dependent samples t-tests, and categorical data were compared using χ2 tests.RESULTS: The 32 gastric stromal tumors treated by EFR and the 30 treated by laparoscopic surgery showed similar operative time [20-155 min(mean, 78.5 ± 30.1 min) vs 50-120 min(mean, 80.9 ± 46.7 min), P > 0.05], complete resection rate(100% vs 93.3%, P > 0.05), and length of hospital stay [4-10 d(mean, 5.9 ± 1.4 d) vs 4-19 d(mean, 8.9 ± 3.2 d), P >0.05]. None of the patients treated by EFR experienced complications, whereas two patients treated by laparoscopy required a conversion to laparotomy, and one patient had postoperative gastroparesis. No recurrences were observed in either group. Immunohistochemical staining showed that of the 62 gastric stromal tumors diagnosed by gastroscopy and endoscopic ultrasound, six were leiomyomas(SMA-positive), one was a schwannoglioma(S-100 positive), and the remaining 55 were stromal tumors.CONCLUSION: Some gastric stromal tumors arising from the muscularis propria can be completely removed by EFR. EFR could likely replace surgical or laparoscopic procedures for the removal of gastric stromal tumors.

Clinical features of coronary artery ectasia in the elderly

ObjectiveTo 与冠的动脉 ectasia (CAE ) 在老病人调查发生，成像和临床的特征 .MethodsA 回顾的分析与 CAE 在病人上被进行经历了在 2006 年 1 月和 2012 年 12 月之间的冠的 angiography。根据年龄，注册病人被划分成二个组(老组，年龄 ≥；65 年；非老的组，年龄 <；65 年) 。临床的特征，成像特征和二个组的 5 年的幸存率是在老病人的 CAE 的 compared.ResultsThe 流行是 0.33% 。在老组的病人被发现有女性的显著地更高的比例(30.1% 对 10.1% ， P <；0.001 ) ，三容器的疾病(60.5% 对 45.2% ， P = 0.003 ) 并且局部性的 ectasia (55.0% 对 40.2% ， P = 0.003 ) 。另外，身体团索引(20.90 ±；2.71 kg/m 2 对 22.31 ±；2.98 kg/m 2, P <；0.001 ) 并且当前的吸烟者的百分比(45.0% 对 64.6% ， P <；0.001 ) 在老组是显著地更低的。累积幸存曲线与非老的组相比在老组在后续表明了减少的 5 年的累积幸存(88.0% 对 96.0% ， P = 0.002 ) 。但是免费幸存率没能显示出二之间的重要差别的 5 年的事件组织(31.0% 对 35.0% ， P = 0.311 ) 在老病人的 CAE 的 .ConclusionThe 流行是 0.33% ，它关于 CAE 病人的全部数字的 1/3。在之间有重要差别老并且有 CAE 的非老的病人以冠的动脉疾病冒险因素和冠的动脉 ectatic 特征。CAE 可能与增加的死亡风险被联系在老。

Supraclavicular lymph node metastases from malignant gastrointestinal stromal tumor of the jejunum: A case report with review of the literature

Gastrointestinal stromal tumors(GISTs) represent the most common mesenchymal tumors of the alimentary tract. These tumors may have different clinical and biological behaviors. Malignant forms usually spread via a hematogenous route, and lymph node metastases rarely occur. Herein, we report a patient with a jejunal GIST who developed supraclavicular lymph node metastasis. We conclude that lymphatic diffusion via the mediastinal lymphatic station to the supraclavicular lymph nodes can be a potential metastatic route for GISTs.

Tumor suppress genes screening analysis on 4q in sporadic colorectal carcinoma

AIM: To search candidate tumor suppressor genes (TSGs) on chromosome 4q through detecting high loss of heterozygosity (LOH) regions in sporadic colorectal carcinoma in Chinese patients. METHODS: Thirteen fluorescent labeled polymorphic microsatellite markers were analyzed in 83 cases of colorectal carcinoma and matched normal tissue DNA by polymerase chain reaction (PCR). PCR products were eletrophoresed on an ABI 377 DNA sequencer. Genescan 3.7 and Genotype 3.7 software were used for LOH scanning and analysis. Comparison between LOH frequency and clinicopathological factors were performed by χ2 test. RESULTS: Data were collected on all informative loci. The average LOH frequency on 4q was 28.56%. The D4S2915 locus showed highest LOH frequency (36.17%). Two obvious deletion regions were detected: one between D4S3000 and D4S2915 locus (4q12-21.1), another flanked by D4S407 and D4S2939 locus (4q25-31.1). None case showed complete deletion of 4q, most cases displayed interstitial deletion pattern solely. Furthermore, compared with clinicopathological features, a significant relationship was observed between LOH frequencies on D4S3018locus. In tumors larger than 5 cm in diameter, LOH frequency was significantly higher than tumors that were less than 5 cm (56% vs 13.79%, P = 0.01). On D4S1534 locus, LOH was significantly associated with liver metastasis (80% vs 17.25%, P = 0.012). No relationship was detected on other locus compared with clinicopathologial features. CONCLUSION: By high resolution deletion mapping, two high frequency regions of LOH (4q12-21.1 and 4q25-31.1) were detected, which may contribute to locate TSGs on chromosome 4q involved in carcinogenesis and progression of sporadic colorectal carcinoma.

Are there tumor suppressor genes on chromosome 4p in sporadic colorectal carcinoma?

AIM: To study the candidate tumor suppressor genes (TSG) on chromosome 4p by detecting the high frequency of loss of heterozygosity (LOH) in sporadic colorectal carcinoma in Chinese patients.METHODS: Seven fluorescent labeled polymorphic microsatellite markers were analyzed in 83 cases of colorectal carcinoma and matched normal tissue DNA by PCR. PCR products were eletrophoresed on an ABI 377 DNA sequencer. Genescan 3.7 and Genotype 3.7 software were used for LOH scanning and analysis. The same procedure was performed by the other six microsatellite markers spanning D4S3013 locus to make further detailed deletion mapping. Comparison between LOH frequency and clinicopathological factors was performed by χ2 test.RESULTS: Data were collected from all informative loci. The average LOH frequency on 4p was 24.25%, and 42.3% and 35.62% on D4S405 and D4S3013 locus, respectively. Adjacent markers of D4S3013 displayed a low LOH frequency (< 30%) by detailed deletion mapping. Significant opposite difference was observed between LOH frequency and tumor diameter on D4S412 and D4S1546 locus (0% vs 16.67%, P = 0.041; 54.55% vs 11.11%, P = 0.034, respectively). On D4S403 locus, LOH was significantly associated with tumor gross pattern (11.11%, 0, 33.33%, P = 0.030). No relationship was detected on other loci compared with clinicopathologial features.CONCLUSION: By deletion mapping, two obvious high frequency LOH regions spanning D4S3013 (4p15.2) and D4S405 (4p14) locus are detected. Candidate TSG, which is involved in carcinogenesis and progression of sporadic colorectal carcinoma on chromosome 4p, may be located between D4S3017 and D4S2933 (about 1.7 cm).

Clinical Control Study of Endoscopic Full-thickness Resection and Laparoscopic Surgery in the Treatment of Gastric Tumors Arising from the Muscularis Propria

Background： Gastric stromal tumors arising from the muscularis propria are located in deeper layers. Endoscopic resection may be contraindicated due to the possibility of perforation. These tumors are therefore usually removed by surgical or laparoscopic procedures. This study evaluated the curative effects, safety and feasibility of endoscopic full-thickness resection （EFR） of gastric stromal tumors originating from the muscularis propria. Methods： This study enrolled 92 patients with gastric stromal tumors 〉2.5 cm originating from the muscularis propria. Fifty patients underwent EFR, and 42 underwent laparoscopic intragastric surgery. Operation time, complete resection rate, length of hospital stay, incidence of complications, and recurrence rates were compared in these two groups. Results： EFR resulted in complete resection of all 50 gastric stromal tumors, with a mean procedure time of 85± 20 min, a mean hospitalization time of 7.0± 1.5 days and no complications. Laparoscopic intragastric surgery also resulted in a 100% complete resection rate, with a mean operation time of 88 ± 12 min and a mean hospitalization period of 7.5 ± 1.6 days. The two groups did not differ significantly in operation time, complete resection rates, hospital stay or incidence of complications （P 〉 0.05）. No patient in either group experienced tumor recurrence. Conclusions： EFR technique is effective and safe for the resection of gastric stromal tumors arising from the muscularis propria.

China Patient-centered Evaluative Assessment of Cardiac Events Prospective Study of Acute Myocardial Infarction： Study Design

Background： Despite the rapid growth in the incidence of acute myocardial infarction （AMI） in China, there is limited information about patients＇ experiences after AMI hospitalization, especially on long-tern1 adverse events and patient-reported outcomes （PROs）. Methods： The China Patient-centered Evaluative Assessment of Cardiac Events （PEACE）-Prospective AMI Study will enroll 4000 consecutive AM I patients from 53 diverse hospitals across China and follow them longitudinally for 12 months to docunlent their treatment, recovery, and outcomes. Details of patients＇ medical history, treatment, and in-hospital outcomes are abstracted from medical charts. Comprehensive baseline interviews are being conducted to characterize patient demographics, risk factors, presentation, and healthcare utilization. As part of these interviews, validated instruments are administered to measure PROs, including quality of life, symptoms, mood, cognition, and sexual activity. Follow-up interviews, measuring PROs, medication adherence, risk factor control, and collecting hospitalization events are conducted at 1, 6, and 12 months after discharge. Supporting documents for potential outcomes are collected for adjudication by clinicians at the National Coordinating Center. Blood and urine samples are also obtained at baseline, 1 - and 12-month follow-up. In addition, we are conducting a survey of participating hospitals to characterize their organizational characteristics. Conclusion： The China PEACE-Prospective AMI study will be uniquely positioned to generate new information regarding patient＇s experiences and outcomes alter AMI in China and seiwe as a foundation for quality improveinent activities.

Admission Glucose and In-hospital Mortality after Acute Myocardial Infarction in Patients with or without Diabetes： A Cross-sectional Study

Background：Hyperglycemia on admission has been found to elevate risk for mortality and adverse clinical events after acute myocardial infarction （AMI）,but there are evidences that the relationship of blood glucose and mortality may differ between diabetic and nondiabetic patients.Prior studies in China have provided mixed results and are limited by statistical power.Here,we used data from a large,nationally representative sample of patients hospitalized with AMI in China in 2001,2006,and 2011 to assess if admission glucose is of prognostic value in China and if this relationship differs depending on the presence or absence of diabetes.Methods：Using a nationally representative sample of patients with AMI in China in 2001,2006,and 2011,we categorized patients according to their glucose levels at admission （〈3.9,3.9-7.7,7.8-11.0,and ≥11.1 mmol/L） and compared in-hospital mortality across these admission glucose categories,stratified by diabetes status.Among diabetic and nondiabetic patients,separately,we employed logistic regression to assess the differences in outcomes across admission glucose levels while adjusting for the same covariates.Results：Compared to patients with euglycemia （5.8%）,patients with moderate hyperglycemia （13.1%,odds ratio [OR] =2.44,95% confidence interval [CI,2.08-2.86]）,severe hyperglycemia （21.5%,OR =4.42,95% CI [3.78-5.18]）,and hypoglycemia （13.8%,OR =2.59,95% CI [1.68-4.00]）,all had higher crude in-hospital mortality after AMI regardless of the presence of recognized diabetes mellitus.After adjustment for patients＆#39; characteristics and clinical status,however,the relationship between admission glucose and in-hospital mortality was different for diabetic and nondiabetic patients （P for interaction =0.045）.Among diabetic patients,hypoglycemia （OR =3.02,95% CI [1.20-7.63]）,moderate hyperglycemia （OR =1.75,95% CI [1.04-2.92]）,and severe hyperglycemia （OR =2.97,95% CI [1.87-4.71]） remained associated with elevated risk for mortality,but among nondiabetic patients,only patients with moderate hyperglycemia （OR =2.34,95% CI [1.93-2.84]） and severe hyperglycemia （OR =3.92,95% CI [3.04-5.04]） were at elevated mortality risk and not hypoglycemia （OR =1.12,95% CI [0.60-2.08]）.This relationship was consistent across different study years （P for interaction =0.900）.Conclusions：The relationship between admission glucose and in-hospital mortality differs for diabetic and nondiabetic patients.Hypoglycemia was a bad prognostic marker among diabetic patients alone.The study results could be used to guide risk assessment among AMI patients using admission glucose.Trial Registration：www.clinicaltrials.gov,NCT01624883;https：// clinicaltrials.gov/ct2/show/NCT01624883.

Tackling China＇s Noncommunicable Diseases： Shared Origins, Costly Consequences and the Need for Actior

Noncommunicable diseases （NCDs） have become the leading causes of death worldwide. As a concerning example, China＇s NCD prevalence is accelerating. As elsewhere, hypertension, diabetes, heart diseases, stroke, and obesity are the major contributors to this increasing trend. A common set of preceding risk factors is responsible for these different conditions, including physical inactivity, unhealthy eating habits, altered patterns of sleep, environmental pollution, and tobacco and alcohol abuse.