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A case of Cowden syndrome diagnosed from multiple gastric polyposis

World Journal of Gastroenterology 2012年第8期18卷 861-864页

作者： minsu ha Jun Won Chung Ki Baik hahm Yoon Jae Kim Dong Kyu Kim Myeong Gun Kim Woochang Lee Jungsuk An Division of Gastroenterology Department of Internal MedicineGachon Graduate School of MedicineGil Medical CenterIncheon 405-760South Korea Woocharlo LeeDepartment of Laboratory MedicineAsan Medical CenterSeoul 138-736South Korea Department of Laboratory Medicine Asan Medical CenterSeoul 138-736South Korea Department of Patholgy Gachon University Gil HospitalIncheon 405-760South Korea

Cowden syndrome is a rare autosomal dominant disorder that is characterized by multiple hamartomas in a variety of tissues and this is associated with germline mutations in the phosphatase and tensin homologue (PTEN) gene, which is the tumor suppressor gene located on chromosome 10q23.3. It is characterized by multiple hamartomatous neoplasms of the skin, oral mucosa, gastrointestinal (GI) tract, bones, central nervous system, eyes, and genitourinary tract. Cowden syndrome does not have increased risk of GI malignancy; however, it has an increased risk of breast, thyroid and endometrial cancer development. Herethe authors report a rare case of Cowden syndrome incidentally diagnosed from multiple gastric polyposis. A 29-year-old woman presented with multiple gastric polyps. The laboratory results were normal except for mild anemia, with a hemoglobin level of 11.9 g/dL. Esophagogastroduodenoscopy revealed multiple gastric, duodenal polyps and esophageal acanthosis. Colonoscopy revealed possible hamartomatous polyps in the rectum. Under the suspicion of Cowden syndrome, sonography of the thyroid and breasts was carried out, which revealed multiple thyroid masses. Subsequent fine-needle aspiration biopsy revealed the presence of clusters of follicular epithelial cells, and due to the possibility of malignancy, the patient underwent total thyroidectomy. The pathology was reported as invasive follicular carcinoma. A gene study by direct sequencing showed the presence of a PTEN mutation (c.633C > A /p.Cys211*).

关键词：胃肠道综合征 PTEN基因多发性肉甲状腺癌确诊中枢神经系统

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Gastric angiodysplasia in a hereditary hemorrhagic telangiectasia type 2 patient

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World Journal of Gastroenterology 2012年第15期18卷 1840-1844页

作者： minsu ha Yoon Jae Kim Kwang An Kwon Ki Baik hahm Mi-Jung Kim Dong Kyu Kim Young Jae Lee S Paul Oh Department of Gastroenterology Gachon University Gil Medical CenterIncheon 402-751South Korea World Class University program Lee Gil Ya Cancer and Diabetes InstituteGachon University of Medicine and ScienceIncheon 402-751South Korea Lee Gil Ya Cancer and Diabetes Institute Gachon University of Medicine and ScienceIncheon 402-751South Korea

Hereditary hemorrhagic telangiectasia(HHT)is a rare autosomal-dominantly inherited disease that occurs in approximately one in 5000 to 8000 people.Clinical diagnosis of HHT is made when a person presents three of the following four criteria:family history,recurrent nosebleeds,mucocutaneous telangiectasis,and arteriovenous malformations(AVM)in the brain,lung,liver and gastrointestinal(GI)tract.Although epistaxis is themost common presenting symptom,AVMs affecting the lungs,brain and GI tract provoke a more serious outcome.Heterozygous mutations in endoglin,activin receptor-like kinase 1(ACVRL1;ALK1),and SMAD4,the genes involved in the transforming growth factor-βfamily signaling cascade,cause HHT.We report here the case of a 63 year-old male patient who presented melena and GI bleeding episodes,proven to be caused by bleeding from multiple gastric angiodysplasia.Esophagogastroduodenoscopy revealed multiple angiodysplasia throughout the stomach.Endoscopic argon plasma coagulation was performed to control bleeding from a gastric angiodysplasia.The patient has been admitted several times with episodes of hemoptysis and hematochezia.One year ago,the patient was hospitalized due to right-sided weakness,which was caused by left basal ganglia hemorrhage as the part of HHT presentation.In family history,the patient's mother and elder sister had died,due to intracranial hemorrhage,and his eldest son has been suffered from recurrent epistaxis for 20 years.A genetic study revealed a mutation in exon 3 of ALK1(c.199C>T;p.Arg67Trp)in the proband and his eldest son presenting epistaxis.

关键词：毛细血管扩张发育不良出血性遗传性胃癌动静脉畸形基因家族 Smad4

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A feasible modified biopsy method for tissue diagnosis of gastric subepithelial tumors

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World Journal of Gastroenterology 2013年第29期19卷 4752-4757页

作者： Jung Ho Kim Jun-Won Chung minsu ha Min Young Rim Jong Joon Lee Jungsuk An Yoon Jae Kim Kyoung Oh Kim Kwang An Kwon Dong Kyun Park Yeon Suk Kim Duck Joo Choi Department of Internal Medicine Gachon University Gil Medical Center Incheon 405-760 South Korea Department of Pathology Gachon University Gil Medical Center Incheon 405-760 South Korea

AIM: To evaluate the diagnostic yield and safety of a modified technique for the histological diagnosis of subepithelial tumors (SETs). METHODS: A retrospective review of patients who underwent a modified technique for the histological diagnosis of gastric SETs, consisting of a mucosal incision with a fixed flexible snare (MIF) and deep-tissue biopsy under conventional endoscopic view, from January 2012 to January 2013 was performed. Eleven patients with gastric SETs 10-30 mm in diameter and originating from the third or fourth layer on endoscopic ultrasonography were included. RESULTS: The mean age was 59.8 (range, 45-76) years, and 5 patients were male. The mean size of the SETs was 21.8 (range, 11-30) mm. The number of biopsy specimens was 6.3 (range 5-8). The mean procedure time was 9.0 min (range, 4-17 min). The diagnostic yield of MIF biopsies was 90.9% (10/11). The histological diagnoses were leiomyoma (4/11, 36.4%), aberrant pancreas (3/11, 27.3%), gastrointestinal stromal tumors (2/11, 18.2%), an inflammatory fibrinoid tumor (1/11, 9.1%); one result was non-diagnostic (1/11, 9.1%). There were six mesenchymal tumors; the specimens obtained in each case were sufficient for an immunohistochemical diagnosis. There was no major bleeding, but one perforation occurred that was successfully controlled by endoscopic clipping. CONCLUSION: The MIF biopsy was simple to perform, safe, and required a shorter procedure time, with a high diagnostic yield for small SETs.

关键词： Subepithelial tumors Stomach Biopsy Endoscopy Diagnostic techniques

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Probiotics intervention in colorectal cancer:From traditional approaches to novel strategies

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Chinese Medical Journal 2024年第1期137卷 8-20页

作者： Suki ha Xiang Zhang Jun Yu Institute of Digestive Disease and Department of Medicine and Therapeutics State Key Laboratory of Digestive DiseaseLi Ka Shing Institute of Health SciencesThe Chinese University of Hong KongHong Kong SARChina

The intestine harbors a large population of microorganisms that interact with epithelial cells to maintain host healthy physiological status.These intestinal microbiota engage in the fermentation of non-digestible nutrients and produce beneficial metabolites to regulate host homeostasis,metabolism,and immune response.The disruption of microbiota,known as dysbiosis,has been implicated in many intestinal diseases,including colorectal cancer(CRC).As the third most common cancer and the second leading cause of cancer-related death worldwide,CRC poses a significant health burden.There is an urgent need for novel interventions to reduce CRC incidence and improve clinical outcomes.Modulating the intestinal microbiota has emerged as a promising approach for CRC prevention and treatment.Current research efforts in CRC probiotics primarily focus on reducing the incidence of CRC,alleviating treatment-related side effects,and potentiating the efficacy of anticancer therapy,which is the key to successful translation to clinical practice.This paper aims to review the traditional probiotics and new interventions,such as next-generation probiotics and postbiotics,in the context of CRC.The underlying mechanisms of probiotic anti-cancer effects are also discussed,including the restoration of microbial composition,reinforcement of gut barrier integrity,induction of cancer cell apoptosis,inactivation of carcinogens,and modulation of host immune response.This paper further evaluates the novel strategy of probiotics as an adjuvant therapy in boosting the efficacy of chemotherapy and immunotherapy.Despite all the promising findings presented in studies,the evaluation of potential risks,optimization of delivery methods,and consideration of intra-patient variability of gut microbial baseline must be thoroughly interpreted before bench-to-bedside translation.

关键词： colorectal cancer probiotics gut microbiota dysbiosis adjuvant therapy immune modulation gut barrrier

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Summer extreme precipitation patterns and synoptic-scale circulation precursors over the Tibetan Plateau

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Science China Earth Sciences 2024年第5期67卷 1625-1638页

作者： Zhiyuan DING Yao ha Zhong ZHONG College of Meteorology and Oceanography National University of Defense TechnologyChangsha 410073China Key Laboratory for Virtual Geographic Environment School of Geography ScienceNanjing Normal UniversityNanjing 210023China Jiangsu Collaborative Innovation Center for Climate Change School of Atmospheric SciencesNanjing UniversityNanjing 210023China

In the context of global warming,the extreme summer precipitation over the Tibetan Plateau(TP)has changed significantly.In this study,the summer(June–August)extreme precipitation on the TP was classified into three spatial types by applying the K-means clustering method to the Third Pole Region long time-series high-resolution(1/30°)precipitation dataset(TPHi Pr,1979–2020).The characteristics of the circulation anomalies and precursors corresponding to the extreme precipitation on the TP in summer during 1979–2020 were investigated.The results showed that the summer extreme precipitation of the TP can be categorized into northwestern(NW),southeastern(SE),and southern Himalayan(HS)types based on extreme precipitation thresholds.The NW and SE types are mainly influenced by anomalous signals in the mid-to-high latitude regions upstream of them,whereas the HS type is controlled by the localized subtropical anomalous circulation.On the 8th day before the onset of the NW type,an anomalous cyclone was observed in the western Atlantic Ocean(60°W,50°N),which triggered the west-to-east quasi-latitudinal propagation of Rossby waves.On the onset day of the NW type,the upper troposphere showed positive-negative-positive geopotential height anomalies along the latitudinal 40°N from the Caspian Sea,the western part of Xinjiang,to the northeastern TP.Moisture entered from the Arabian Sea along the southeastern edge of the anomalous cyclone on the southwestern TP and converged in the northwestern TP.Compared to the NW type,the precursors of the SE type appeared at higher latitudes and were more intense.On the 8th day before the onset of the SE type,an anomalous cyclone occurred near Greenland(60°W,70°N)and excited Rossby waves propagating southeastward.On the onset day of the SE type,the upper troposphere showed negative-positive-negative geopotential height anomalies across Eurasia from the Ural Mountains and the Iranian Plateau to the northern TP in the northwest-southeast direction and entered the southeastern TP from the Bay

关键词： Tibetan Plateau Summer extreme precipitation Atmospheric circulation anomaly Precursor Teleconnection wave train

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A pipeline to characterize p53 effectors by integrative cistrome and transcriptome analysis in a genetically-defined organoid model

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Genes & Diseases 2024年第2期11卷 512-515页

作者： June-ha Shin Hwa-Ryeon Kim Jae-Seok Roe Department of Biochemistry College of Life Science and BiotechnologyYonsei UniversitySeoul 120-749Republic of Korea

Tumor-protein 53(p53)is a transcription factor(TF)encoded by TP53(Trp53 in mice)and is a master regulator of tumor-suppressive programs'.Importantly,TP53 is the most frequently mutated gene in human cancer,and its loss of function contributes to tumor development,exemplified by variable p53 mutations detected in 50%-75%of pancreatic cancers.2 From these perceptions,a number of targets transcribed by p53 that confer tumor suppression have been identified.Nevertheless,our understanding of how p53 prevents normal cells from initiating tumorigenesis is still incomplete.To complement this limitation,herein,we established a new approach to identify underlying effectors transcribed by p53 in normal physiology.

关键词： incomplete initiating herein

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Elasto-inertial microfluidic separation of microspheres with submicron resolution at high-throughput

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Microsystems & Nanoengineering 2024年第1期10卷 203-216页

作者： Hyunwoo Jeon Song ha Lee Jongho Shin Kicheol Song Nari Ahn Jinsoo Park Department of Mechanical Engineering Chonnam National University77 Yongbong-ro Buk-guGwangju 61186Republic of Korea Analytical Engineering Team Samsung Display Co.Ltd.181 Samsung-roTangjeong-myeonAsan-siChungcheongnam-do 31454Republic of Korea

Elasto-inertial microfluidic separation offers many advantages including high throughput and separation resolution.Even though the separation efficiency highly depends on precise control of the flow conditions,no concrete guidelines have been reported yet in elasto-inertial microfluidics.Here,we propose a dimensionless analysis for precise estimation of the microsphere behaviors across the interface of Newtonian and viscoelastic fluids.Reynolds number,modified Weissenberg number,and modified elastic number are used to investigate the balance between inertial and elastic lift forces.Based on the findings,we introduce a new dimensionless number defined as the width of the Newtonian fluid stream divided by microsphere diameter.The proposed dimensionless analysis allows us to predict whether the microspheres migrate across the co-flow interface.The theoretical estimation is found to be in good agreement with the experimental results using 2.1-and 3.2-μm-diameter polystyrene microspheres in a co-flow of water and polyethylene oxide solution.Based on the theoretical estimation,we also realize submicron separation of the microspheres with 2.1 and 2.5μm in diameter at high throughput,high purity(>95%),and high recovery rate(>97%).The applicability of the proposed method was validated by separation of platelets from similar-sized Escherichia coli(E.coli).

关键词： solution. separation estimation

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Integrated strategies on cobalt phosphides-based electrocatalysts for efficient hydrogen evolution reaction

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Tungsten 2024年第3期6卷 488-503页

作者： Thanh Dam Mai ha Huu Do Faculty of Mechanical Engineering and Technology Ho Chi Minh City University of Industry and Trade VKTech Research Center NTT Hi-Tech Institute Nguyen Tat Thanh University

The development of cost-effective and durable hydrogen evolution reaction(HER) electrocatalysts plays a vital role in dealing with the issues related to carbon dioxide emission.Cobalt phosphide-based nanomaterials are evaluated as promising advocates for HER due to high catalytic activities,good stability,and rich defect.This review commences with an exploration of the synthetic pathways of CoP,including solid-phase,solution-phase along with electrochemical methods.Besides,the mechanism of hydrogen formation is expressed thoroughly,after which various integrated strategies of morphology engineering with doping,assisted highly conductive materials,and construction of heterostructure were introduced for HER.Ultimately,burdensome tasks and possible guidance for the advancement of CoP-based nanomaterials were discussed for hydrogen production.

关键词： Cobalt phosphides Nanomaterials Electrocatalysts Hydrogen evolution reaction

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Nature-based Natural-hazard Preparedness:A Cross Section of Categorized Examples

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Journal of Environmental & Earth Sciences 2024年第1期6卷 33-44页

作者： Kyoo-Man ha Faculty of Resilience Rabdan AcademyAbu Dhabi114646UAE

Despite prevailing interests,no rigorous research has been conducted to examine the role of nature in natural-hazard preparedness.This systematic review aimed to describe how nature can reduce the impacts of natural hazards during the preparedness stage.The study focuses on the land,water,and air systems and on three types of stakeholders:international organizations,developed countries,and developing countries.Further,it provides supplementary strategies,such as immediate actions,local engagement,and research and development,that the stakeholders should apply to enhance their nature-based natural-hazard preparedness.We suggest integrating costs and benefits analysis,local culture,societal challenges,and environmental justice into the implementation of nature-based solutions.Finally,this review outlines the framework of nature-based natural-hazard preparedness by discussing the relationship between nature and society.

关键词： Nature-based solutions Costs and benefits Land Integration Society

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Acoustofluidic separation of prolate and spherical micro-objects

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Microsystems & Nanoengineering 2024年第1期10卷 217-230页

作者： Muhammad Soban Khan Mushtaq Ali Song ha Lee Keun Young Jang Seong Jae Lee Jinsoo Park Department of Mechanical Engineering Chonnam National University77 Yongbong-roBuk-guGwangju 61186Republic of Korea Department of Polymer Engineering The University of Suwon17 Wauan-gilBongdam-eupHwaseongGyeonggi 18323Republic of Korea

Most microfluidic separation techniques rely largely on object size as a separation marker.The ability to separate micro-objects based on their shape is crucial in various biomedical and chemical assays.Here,we develop an ondemand,label-free acoustofluidic method to separate prolate ellipsoids from spherical microparticles based on traveling surface acoustic wave-induced acoustic radiation force and torque.The freely rotating non-spherical microobjects were aligned under the progressive acoustic field by the counterrotating radiation torque,and the major axis of the prolate ellipsoids was parallel to the progressive wave propagation.The specific alignment of the ellipsoidal particles resulted in a reduction in the cross-sectional area perpendicular to the wave propagation.As a consequence,the acoustic backscattering decreased,resulting in a decreased magnitude of the radiation force.Through the variation in radiation force,which depended on the micro-object morphology enabled the acoustofluidic shape-based separation.We conducted numerical simulations for the wave scattering of spherical and prolate objects to elucidate the working mechanism underlying the proposed method.A series of experiments with polystyrene microspheres,prolate ellipsoids,and peanut-shaped microparticles were performed for validation.Through quantitative analysis of the separation efficiency,we confirmed the high purity and high recovery rate of the proposed acoustofluidic shapebased separation of micro-objects.As a bioparticle,we utilize Thalassiosira eccentrica to perform shape-based separation,as the species has a variety of potential applications in drug delivery,biosensing,nanofabrication,bioencapsulation and immunoisolation.

关键词： separation spherical rotating

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