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Cellular angiofibroma arising from the rectocutaneous fistula in an adult: A case report

World Journal of Clinical Cases 2024年第10期12卷 1778-1784页

作者： Hao-En Chen Yu-Yang Lu Ruei-Yu Su Hong-Hau Wang Chao-Yang Chen Je-Ming Hu Jung-Cheng Kang Kuan-Hsun Lin Ta-Wei Pu Department of Surgery Taichung Armed Forces General HospitalTaichung 411Taiwan Department of Surgery Tri-Service General HospitalNational Defense Medical CenterTaipei 114Taiwan Department of pediatrics Tri-Service General HospitalNational Defense Medical CenterTaipei 114Taiwan Department of Pathology Tri-Service General HospitalNational Defense Medical CenterTaipei 105Taiwan Department of Pathology and Laboratory Medicine Taoyuan Armed Forces General HospitalTaoyuan 32551Taiwan Department of Radiology Tri-Service General Hospital Songshan BranchNational Defense Medical CenterTaipei 105Taiwan Division of Colon and Rectal Surgery Department of SurgeryTri-Service General HospitalNational Defense Medical CenterTaipei 114Taiwan Division of Colon and Rectal Surgery Department of SurgeryTaiwan Adventist HospitalTaipei 105Taiwan Division of Thoracic Surgery Department of SurgeryTri-Service General HospitalNational Defense Medical CenterTaipei 114Taiwan Division of Colon and Rectal Surgery Department of SurgeryTri-Service General Hospital Songshan BranchNational Defense Medical CenterTaipei 105Taiwan

BACKGROUND Rectocutaneous fistulae are common.The infection originates within the anal glands and subsequently extends into adjacent regions,ultimately resulting in fistula development.Cellular angiofibroma(CAF),also known as an angiomy ofibroblastoma-like tumor,is a rare benign soft tissue neoplasm predominantly observed in the scrotum,perineum,and inguinal area in males and in the vulva in females.We describe the first documented case CAF that developed within a rectocutaneous fistula and manifested as a perineal mass.CASE SUMMARY In the outpatient setting,a 52-year-old male patient presented with a 2-year history of a growing perineal mass,accompanied by throbbing pain and minor scrotal abrasion.Physical examination revealed a soft,well-defined,non-tender mass at the left buttock that extended towards the perineum,without a visible opening.The initial assessment identified a soft tissue tumor,and the laboratory data were within normal ranges.Abdominal and pelvic computed tomography(CT)revealed swelling of the abscess cavity that was linked to a rectal cutaneous fistula,with a track-like lesion measuring 6 cm×0.7 cm in the left perineal region and attached to the left rectum.Rectoscope examination found no significant inner orifices.A left medial gluteal incision revealed a thick-walled mass,which was excised along with the extending tract,and curettage was performed.Histopathological examination confirmed CAF diagnosis.The patient achieved total resolution during follow-up assessments and did not require additional hospitalization.CONCLUSION CT imaging supports perineal lesion diagnosis and management.Perineal angiofibromas,even with a cutaneous fistula,can be excised transperineally.

关键词： Angiofibroma Perineal mass Rectocutaneous fistula Anorectal fistula Anal fistula Case report

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Mesenchymal stromal cells modulate unfolded protein response and preserve β-cell mass in type 1 diabetes

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BIOCELL 2024年第7期48卷 1115-1126页

作者： SIYUAN LIU YUAN ZHAO YU YU DOU YE QIAN WANG ZHAOYAN WANG ZUO LUAN Department of pediatrics The Sixth Medical CenterChinese PLA General HospitalBeijing100037China

Introduction:Transplantation of mesenchymal stromal cells(MSCs)is a promising therapy for type 1 diabetes(T1D).However,whether the infused MSCs affect the endoplasmic reticulum stress or subsequent unfolded protein response inβcells remains unclear.Methods:To investigate this,we induced early-onset T1D in non-obese diabetic mice using streptozotocin.Subsequently,T1D mice were randomly assigned to receive either MSCs or phosphate-buffered saline.We observed the in vivo homing of MSCs and assessed their effectiveness by analyzing blood glucose levels,body weight,histopathology,pancreatic protein expression,and serum levels of cytokines,proinsulin,and C-peptide.Results:Infused MSCs were found in the lungs,liver,spleen,and pancreas of T1D mice.They exhibited various effects,including reducing blood glucose levels,regulating immunity,inhibiting inﬂammation,increasingβ-cell areas,and reducing the expression of key proteins in the unfolded protein response pathway.Fasting serum proinsulin and C-peptide levels were signiﬁcantly higher in the MSCs treatment group than in the T1D model group.However,there was no signiﬁcant difference in the biomarker ofβ-cell endoplasmic reticulum stress,the ratio of fasting serum proinsulin to C-peptide,between the two groups.Conclusion:Ourﬁndings reveal that MSCs infusion does not alleviate endoplasmic reticulum stress inβcells directly but modulates the unfolded protein response pathway to preserveβ-cell mass and function in T1D mice.

关键词： Type 1 diabetes Mesenchymal stromal cells Endoplasmic reticulum stress Unfolded protein response Non-obese diabetic mice

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Stercoral perforation of the cecum:A case report

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World Journal of Gastrointestinal Surgery 2024年第4期16卷 1189-1194页

作者： Hung-Chun Yu Ta-Wei Pu Jung-Cheng Kang Chao-Yang Chen Je-Ming Hu Ruei-Yu Su Department of Surgery Taichung Armed Forces General HospitalTaichung 411228Taiwan Department of Surgery Tri-Service General HospitalNational Defense Medical CenterTaipei 11490Taiwan Division of Colon and Rectal Surgery Department of SurgeryTri-Service General Hospital Songshan BranchNational Defense Medical CenterTaipei 105Taiwan Division of Colon and Rectal Surgery Department of SurgeryTaiwan Adventist HospitalTaipei 105Taiwan Division of Colon and Rectal Surgery Department of SurgeryTri-Service General HospitalNational Defense Medical CenterTaipei 114Taiwan Department of Pathology Tri-Service General HospitalNational Defense Medical CenterTaipei 105Taiwan Department of Pathology and Laboratory Medicine Taoyuan Armed Forces General HospitalTaoyuan 325Taiwan

BACKGROUND With less than 90 reported cases to date,stercoral perforation of the colon is a rare occurrence.Stercoral ulceration is thought to occur due to ischemic pressure necrosis of the bowel wall,which is caused by the presence of a stercoraceous mass.To underscore this urgent surgical situation concerning clinical presentation,surgical treatment,and results,we present the case of a 66-year-old man with a stercoral perforation.CASE SUMMARY A 66-year-old man with a history of hypertension,hyperlipidemia,and gout presented at the emergency department with lower abdominal pain and a low-grade fever lasting for a few hours.Abdominal computed tomography indicated a suspected bezoar(approximately 7.6 cm)in the dilated cecum,accompanied by pericolic fat stranding,mild proximal dilatation of the ileum,pneumoperitoneum,and minimal ascites.Intraoperatively,feculent peritonitis with isolated cecal perforation were observed.Consequently,a right hemicolectomy with peritoneal lavage was performed.A histopathological examination supported the intraoperative findings.CONCLUSION In stercoral perforations,a diagnosis should be diligently pursued,especially in older adults,and prompt surgical intervention should be implemented.

关键词： Acute abdomen Colectomy Peritoneal lavage Pneumoperitoneum Bezoars Case report

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Mucinous neoplasm of the appendix:A case report and review of literature

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World Journal of Gastrointestinal Surgery 2024年第3期16卷 944-954页

作者： Hao-Cheng Chang Jung-Cheng Kang Ta-Wei Pu Ruei-Yu Su Chao-Yang Chen Je-Ming Hu Department of Surgery Tri-Service General HospitalTaipei 114TaiwanChina Division of Colon and Rectal Surgery Department of SurgeryTaiwanChina Adventist HospitalTaipei 105TaiwanChina Division of Colon and Rectal Surgery Department of SurgeryTri-Service General Hospital Songshan BranchNational Defense Medical CenterTaipei 105TaiwanChina Division of Colon and Rectal Surgery Department of SurgeryTri-Service General HospitalNational Defense Medical CenterTaipei 114TaiwanChina Department of Pathology Tri-Service General HospitalNational Defense Medical CenterTaipei 105TaiwanChina Department of Pathology and Laboratory Medicine Taoyuan Armed Forces General HospitalTaoyuan 325TaiwanChina

BACKGROUND Appendiceal mucinous neoplasms(AMNs),although not classified as rare,are relatively uncommon tumors most often discovered incidentally during colorectal surgery.Accurate identification of AMNs is difficult due to non-specific sym-ptoms,overlapping tumor markers with other conditions,and the potential for misdiagnosis.This underscores the urgent need for precision in diagnosis to pre-vent severe complications.CASE SUMMARY This case report describes the unexpected discovery and treatment of a low-grade AMN(LAMN)in a 74-year-old man undergoing laparoscopic hemicolectomy for transverse colon adenocarcinoma(AC).Preoperatively,non-specific gastroin-testinal symptoms and elevated tumor markers masked the presence of AMN.The tumor,presumed to be an AMN peritoneal cyst intraoperatively,was con-firmed as LAMN through histopathological examination.The neoplasm exhibited mucin accumulation and a distinct immunohistochemical profile:Positive for Ho-meobox protein CDX-2,Cytokeratin 20,special AT-rich sequence-binding protein 2,and Mucin 2 but negative for cytokeratin 7 and Paired box gene 8.This profile aids in distinguishing appendiceal and ovarian mucinous tumors.Postoperative recovery was uncomplicated,and the patient initiated adjuvant chemotherapy for the colon AC.CONCLUSION This case highlights the diagnostic complexity of AMNs,emphasizing the need for vigilant identification to avert potential complications,such as pseudomyxoma peritonei.

关键词： Adenocarcinoma Appendiceal neoplasms Low-grade appendiceal mucinous neoplasm Peritoneal neoplasms Pseudomyxoma peritonei Case report

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Neutrophil-to-lymphocyte ratio associated with renal function in type 2 diabetic patients

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World Journal of Clinical Cases 2024年第14期12卷 2308-2315页

作者： Jin-Li Gao Jue Shen Li-Ping Yang Li Liu Kai Zhao Xiao-Rong Pan Lei Li Ji-Ji Xu Department of Prevention and Health Care Community Health Service Center of Miaohang TownShanghai 200443China Department of Prevention and Health Care Community Health Service Center of Songnan TownShanghai 200434China Department of general Practice Community Health Service Center of Songnan TownShanghai 200434China Department of Administrative Community Health Service Center of Songnan TownShanghai 200434China

BACKGROUND Type 2 diabetes mellitus(T2DM)is a leading risk factor for the development and progression of chronic kidney disease(CKD).However,an accurate and con-venient marker for early detection and appropriate management of CKD in in-dividuals with T2DM is limited.Recent studies have demonstrated a strong correlation between the neutrophil-to-lymphocyte ratio(NLR)and CKD.None-theless,the predictive value of NLR for renal damage in type 2 diabetic patients remains understudied.This study included 1040 adults aged 65 or older with T2DM from Shanghai's Community Health service Center.The total number of neutrophils and lym-phocytes was detected,and NLR levels were calculated.CKD was defined as an estimated glomerular filtration rate≤60 mL/min/1.73 m².Participants were di-vided into four groups based on NLR levels.The clinical data and biochemical characteristics were compared among groups.A multivariate logistic regression model was used to analyze the association between NLR levels and CKD.RESULTS Significant differences were found in terms of sex,serum creatinine,blood urea nitrogen,total cholesterol,and low-density lipoprotein cholesterol among patients with T2DM in different NLR groups(P<0.0007).T2DM patients in the highest NLR quartile had a higher prevalence of CKD(P for trend=0.0011).Multivariate logistic regression analysis indicated that a high NLR was an independent risk factor for CKD in T2DM patients even after adjustment for important clinical and pathological parameters(P=0.0001,odds ratio=1.41,95%confidence intervals:1.18-1.68).CONCLUSION An elevated NLR in patients with T2DM is associated with higher prevalence of CKD,suggesting that it could be a marker for the detection and evaluation of diabetic kidney disease.

关键词： Type 2 diabetes mellitus Neutrophil-to-lymphocyte ratio Chronic kidney disease Logistic regression Diabetes mellitus

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Genetic variant reanalysis reveals a case of Sandhoff disease with onset of infantile epileptic spasm syndrome

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Acta Epileptologica 2024年第1期7卷 67-73页

作者： Qi Zhang Liping Zou Qian Lu Qiuhong Wang Shuo Dun Jing Wang Medical School of Chinese PLA Beijing100853China Department of pediatrics the First Medical Center of PLA General HospitalBeijing100853China

Background Sandhoff disease(SD)i s an autosomal recessive lysosomal disease with clinical manifestations such as epilepsy,psychomotor retardation and developmental delay.However,infantile SD with onset of infantile epilepsy spasm syndrome(IESS)is extremely rare.Case presentation The case presented here was a 22-month-old boy,who presented with IESS and psychomotor retardation/regression at 6 months of age.The patient showed progressive aggravation of seizures and excessive startle responses.The whole exome sequencing data,which initially revealed negative results,were reanalyzed and indicated a homozygous mutation at the c.1613+4del splice site of the HEXB gene.The activities ofβ-hexosaminidase A and total hexosaminidase were significantly decreased.The fundus examination showed cherry red spots at the macula.Conclusions IESS can be an epileptic phenotype of infantile SD.Clinical phenotypes should be adequately collected in genetic testing.In the case of negative sequencing results,gene variant reanalysis can be performed when the patients show clinically suspicious indications.

关键词： Infantile Sandhoff disease Gene variant reanalysis HEXB gene Infantile epilepsy spasm syndrome Cherry red spot Human phenotype ontology

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Tissue-resident macrophages exacerbate lung injury after remote sterile damage

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Cellular & Molecular Immunology 2024年第4期21卷 332-348页

作者： Hanhui Zhong Jingjing Ji Jinling Zhuang Ziying Xiong Pengyun Xie Xiaolei Liu Jundi Zheng Wangli Tian Xiaoyang Hong Jing Tang The Department of Anesthesiology Affiliated Hospital of Guangdong Medical UniversityZhanjiangGuangdongChina The Department of Critical Care Medicine General Hospital of Southern Theater Command of PLAGuangzhouChina The Department of Respiratory Medicine Guangdong Provincial Hospital of Integrated Chinese and Western MedicineFoshanChina Pediatric Intensive Care Unit Senior Department of Pediatricsthe Seventh Medical Center of PLA General HospitalBeijingChina

Remote organ injury,which is a common secondary complication of sterile tissue damage,is a major cause of poor prognosis and is difficult to manage.Here,we report the critical role of tissue-resident macrophages in lung injury after trauma or stroke through the inflammatory response.We found that depleting tissue-resident macrophages rather than disrupting the recruitment of monocyte-derived macrophages attenuated lung injury after trauma or stroke.Our findings revealed that the release of circulating alarmins from sites of distant sterile tissue damage triggered an inflammatory response in lung-resident macrophages by binding to receptor for advanced glycation end products(RAGE)on the membrane,which activated epidermal growth factor receptor(EGFR).Mechanistically,ligand-activated RAGE triggered EGFR activation through an interaction,leading to Rab5-mediated RAGE internalization and EGFR phosphorylation,which subsequently recruited and activated P38;this,in turn,promoted RAGE translation and trafficking to the plasma membrane to increase the cellular response to RAGE ligands,consequently exacerbating inflammation.Our study also showed that the loss of RAGE or EGFR expression by adoptive transfer of macrophages,blocking the function of RAGE with a neutralizing antibody,or pharmacological inhibition of EGFR activation in macrophages could protect against trauma-or stroke-induced remote lung injury.Therefore,our study revealed that targeting the RAGE-EGFR signaling pathway in tissue-resident macrophages is a potential therapeutic approach for treating secondary complications of sterile damage.

关键词： tissue-resident macrophage RAGE remote sterile damage

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Machine learning-based comparison of factors influencing estimated glomerular filtration rate in Chinese women with or without nonalcoholic fatty liver

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World Journal of Clinical Cases 2024年第15期12卷 2506-2521页

作者： I-Chien Chen Lin-Ju Chou Shih-Chen Huang Ta-Wei Chu Shang-Sen Lee Department of Nursing Kaohsiung Armed Forces General HospitalKaohsiung 802Taiwan Department of Obstetrics and Gynecology Tri-Service General HospitalNational Defense Medical CenterTaipei 114Taiwan Chief Executive Officer's Office MJ Health Research FoundationTaipei 114Taiwan Department of Urology Taichung Tzu Chi HospitalBuddhist Tzu Chi Medical FoundationTaichung 427Taiwan School of Medicine Tzu Chi UniversityHualian 970Taiwan Department of Urology Tri-Service General HospitalNational Defense Medical CenterTaipei 114Taiwan

BACKGROUND The prevalence of non-alcoholic fatty liver(NAFLD)has increased recently.Subjects with NAFLD are known to have higher chance for renal function impairment.Many past studies used traditional multiple linear regression(MLR)to identify risk factors for decreased estimated glomerular filtration rate(eGFR).However,medical research is increasingly relying on emerging machine learning(Mach-L)methods.The present study enrolled healthy women to identify factors affecting eGFR in subjects with and without NAFLD(NAFLD+,NAFLD-)and to rank their importance.AIM To uses three different Mach-L methods to identify key impact factors for eGFR in healthy women with and without NAFLD.METHODS A total of 65535 healthy female study participants were enrolled from the Taiwan MJ cohort,accounting for 32 independent variables including demographic,biochemistry and lifestyle parameters(independent variables),while eGFR was used as the dependent variable.Aside from MLR,three Mach-L methods were applied,including stochastic gradient boosting,eXtreme gradient boosting and elastic net.Errors of estimation were used to define method accuracy,where smaller degree of error indicated better model performance.RESULTS Income,albumin,eGFR,High density lipoprotein-Cholesterol,phosphorus,forced expiratory volume in one second(FEV1),and sleep time were all lower in the NAFLD+group,while other factors were all significantly higher except for smoking area.Mach-L had lower estimation errors,thus outperforming MLR.In Model 1,age,uric acid(UA),FEV1,plasma calcium level(Ca),plasma albumin level(Alb)and T-bilirubin were the most important factors in the NAFLD+group,as opposed to age,UA,FEV1,Alb,lactic dehydrogenase(LDH)and Ca for the NAFLD-group.Given the importance percentage was much higher than the 2nd important factor,we built Model 2 by removing age.CONCLUSION The eGFR were lower in the NAFLD+group compared to the NAFLD-group,with age being was the most important impact factor in both groups of healthy Chinese women,followed by LDH,UA,FEV1 and

关键词： Non-alcoholic fatty liver Estimated glomerular filtration rate Machine learning Chinese women

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Clinical significance,molecular characterization,and immune microenvironment analysis of coagulation-related genes in clear cell renal cell carcinoma

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Cancer Innovation 2024年第1期3卷 29-49页

作者： Weihao Chen Xupeng Zhao Yongliang Lu Hanfeng Wang Xiyou Wang Yi Wang Chen Liang Zhuomin Jia Wei Ma Department of Urology The Third Medical Center of PLA General HospitalBeijingChina School of Medicine Nankai UniversityTianjinChina Medical service Department The PLA General HospitalBeijingChina Senior Department of Otolaryngology-Head&Neck Surgery The Sixth Medical Center of PLA General HospitalBeijingChina

Background:Numerous studies have revealed a tight connection between tumor development and the coagulation system.However,the effects of coagulation on the prognosis and tumor microenvironment(TME)of clear cell renal cell carcinoma(ccRCC)remain poorly understood.Methods:We employed the consensus clustering method to characterize distinct molecular subtypes associated with coagulation patterns.Subsequently,we examined variations in the overall survival(OS),genomic profiles,and TME characteristics between these subtypes.To develop a prognostic coagulation-related risk score(CRRS)model,we utilized the least absolute shrinkage and selection operator Cox regression and stepwise multivariate Cox regression analyses.We also created a nomogram to aid in the clinical application of the risk score,evaluating the relationships between the CRRS and the immune microenvironment,responsiveness to immunotherapy,and targeted treatment.The clinical significance of PLAUR and its biological function in ccRCC were also further analyzed.Results:There were significant differences in clinical features,prognostic stratification,genomic variation,and TME characteristics between the two coagulation-related subtypes.We established and validated a CRRS using six coagulation-related genes that can be employed as an effective indicator of risk stratification and prognosis estimation for ccRCC patients.Significant variations in survival outcomes were observed between the high-and low-risk groups.The nomogram was proficient in predicting the 1-,3-,and 5-year OS.Additionally,the CRRS emerged as a novel tool for evaluating the clinical effectiveness of immunotherapy and targeted treatments in ccRCC.Moreover,we confirmed upregulated PLAUR expression in ccRCC samples that was significantly correlated with poor patient prognosis.PLAUR knockdown notably inhibited ccRCC cell proliferation and migration.Conclusion:Our data suggested that CRRS may be employed as a reliable predictive biomarker that can provide therapeutic benefits for immunotherapy and

关键词： clear cell renal cell carcinoma coagulation immunotherapy risk score tumor immune microenvironment

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Navigating the complex terrain of hepatitis B virus reactivation in the era of Bruton tyrosine kinase inhibitors

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World Journal of Gastroenterology 2024年第21期30卷 2748-2750页

作者： Wei-Nung Liu Ming-Shen Dai Felicia Lin Gen-Min Lin Department of Medicine Tri-Service General HospitalTaipei 114Taiwan Division of Hematology/Oncology Department of Internal MedicineNational Defense Medical CenterTaipei 114Taiwan Community Care Minnesota OncologyMinneapolisMN 55404United States Department of Medicine Hualien Armed Forces General HospitalHualien City 970Taiwan

In this editorial,we offer a summary of the risk associated with hepatitis B reactivation(HBVr)in the setting of both solid and hematologic malignancies treated with Bruton tyrosine kinase(BTK)inhibitors,with insights derived from current studies.Furthermore,we emphasize the critical need for a framework regarding robust risk evaluation in patients undergoing such treatments.This framework is essential for identifying those at increased risk of HBVr,enabling healthcare providers to implement proactive measures to prevent reactivation and ensure the safe administration of BTK inhibitor therapy.

关键词： Hepatitis B virus reactivation Bruton tyrosine kinase inhibitors Hematologic malignancies Solid tumors Prophylaxis guidelines

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