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Unusual presentation of Loeys-Dietz syndrome:A case report of clinical findings and treatment challenges

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World Journal of Clinical Cases 2022年第33期10卷 12247-12256页

作者： Shely Azrad-Daniel Corina Cupa-Galvan Sion Farca-Soffer Fernando Perez-Zincer Maria Elena Lopez-Acosta Department of Internal Medicine Hospital Angeles LomasHuixquilucan 52763Mexico Department of Radiology Hospital Angeles LomasMexico 52763Mexico Department of Hematology Hospital Angeles LomasMexico 52763Mexico Department of Gastroenterology-endoscopy Hospital Angeles LomasMexico 52763Mexico

BACKGROUND Loeys-Dietz syndrome(LDS)is a rare autosomal dominant syndrome characterized by heterozygous mutations causing multisystemic *** was recently described in 2005,and today at least six different subtypes have been *** presenting with aortic root enlargement or aneurysms and craniofacial and skeletal abnormalities,with specific arterial tortuosity at any *** differential diagnosis of LDS includes atypical Marfan syndrome,vascular Ehlers-Danlos syndrome,Shprintzen-Goldberg craniosynostosis,and familial aortic aneurysm and dissection *** SUMMARY We present a case study of a 35-year-old female who came to the emergency department due to lower gastrointestinal bleeding and severe abdominal *** tomography revealed vascular tortuosity in almost every abdominal *** This case report will help us analyze the infrequent presentation of LDS type 4 and the numerous complications that it implies,underlying the importance of publishing more cases in order to expand our knowledge and offer better treatment for these *** diagnosis,clinical presentation and treatment options for this syndrome are discussed in this article.

关键词： Loeys-Dietz syndrome Pulmonary embolism Gastrointestinal bleeding Rare genetic disease therapeutic angiography Unusual presentation Rare disease Case report

Successful treatment of an enormous rectal mucosa-associated lymphoid tissue lymphoma by endoscopic full-thickness resection:A case report

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World Journal of Gastroenterology 2022年第10期28卷 1078-1084页

作者： Fang-Yuan Li Xiao-Long Zhang Qi-De Zhang Yao-Hui Wang Digestive endoscopy Center Affiliated Hospital of Nanjing University of Chinese MedicineJiangsu Province Hospital of TCMNanjing 210046Jiangsu ProvinceChina Department of Pathology Affiliated Hospital of Nanjing University of Chinese MedicineJiangsu Province Hospital of TCMNanjing 210046Jiangsu ProvinceChina

BACKGROUND Colorectal mucosa-associated lymphoid tissue lymphoma(MALToma),a rare kind of nongastric MALToma,lacks consensus on its endoscopic features and standard *** to previous studies on the clinical characteristics and outcomes of colorectal MALToma,endoscopic resection remains a good therapeutic *** SUMMARY A 71-year-old woman suffered intermittent hematochezia for 1 mo,accompanied with abdominal pains but without weight loss,fever,chills or *** showed a massive hemispheric mass with rough and hyperemic mucosa in the lower ***-band imaging magnifying endoscopy detected some branching abnormal blood vessels and disappearance of glandular structure,which was similar with the tree-like appearance sign in gastric *** ultrasonography revealed the lesion to be hypoechoic,boundary-defined,and echo uniform inside,originating from the muscularis *** enhanced computed tomography(CT)demonstrated a soft tissue mass with defined *** enlarged superficial lymph nodes were detected by B-mode ultrasound.C13-urea breath test and serum Helicobacter pylori antibody were both *** patient underwent endoscopic full-thickness *** pathological analysis indicated colorectal *** patient remained asymptomatic after discharge,and follow-up positron emission tomography–CT and colonoscopy showed no residual lesion,remnants or lymph node *** This case provides new information on the specific endoscopic features of colorectal MALToma and an alternative treatment for patients.

关键词： Mucosa-associated lymphoid tissue lymphoma Endoscopic full-thickness resection Endoscopic minimally invasive surgery endoscopy Case report

Lumen-apposing metal stents for malignant biliary obstruction: Is this the ultimate horizon of our experience?

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World Journal of Gastroenterology 2019年第29期25卷 3857-3869页

作者： Andrea Anderloni Edoardo Troncone Alessandro Fugazza Annalisa Cappello Giovanna Del Vecchio Blanco Giovanni Monteleone Alessandro Repici Digestive endoscopy Unit Division of Gastroenterology Humanitas Research Hospital Milan 20089 Italy Department of Systems Medicine University of Rome “Tor Vergata” Rome 00133 Italy Digestive endoscopy Unit Division of Gastroenterology Humanitas University Milan 20089 Italy

In the last years, endoscopic ultrasonography (EUS) has evolved from a purely diagnostic technique to a more and more complex interventional procedure, with the possibility to perform several type of therapeutic interventions. Among these, EUS-guided biliary drainage (BD) is gaining popularity as a therapeutic approach after failed endoscopic retrograde cholangiopancreatography in distal malignant biliary obstruction (MBO), due to the avoidance of external drainage, a lower rate of adverse events and re-interventions, and lower costs compared to percutaneous trans-hepatic BD. Initially, devices created for luminal procedures (e.g., luminal biliary stents) have been adapted to the new trans-luminal EUSguided interventions, with predictable shortcomings in technical success, outcome and adverse events. More recently, new metal stents specifically designed for transluminal drainage, namely lumen-apposing metal stents (LAMS), have been made available for EUS-guided procedures. An electrocautery enhanced delivery system (EC-LAMS), which allows direct access of the delivery system to the target lumen, has subsequently simplified the classic multi-step procedure of EUS-guided drainages. EUS-BD using LAMS and ECLAMS has been demonstrated effective and safe, and currently seems one of the most performing techniques for EUS-BD. In this Review, we summarize the evolution of the EUS-BD in distal MBO, focusing on the novelty of LAMS and analyzing the unresolved questions about the possible role of EUS as the first therapeutic option to achieve BD in this setting of patients.

关键词： Interventional endoscopic ultrasonography Endoscopic ultrasonography-guided biliary drainage Endoscopic ultrasonography-guided choledocho-duodenostomy Biliary metal stent Lumen-apposing metal stent

Superiority of urgent vs early endoscopic hemostasis in patients with upper gastrointestinal bleeding with high-risk stigmata

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Gastroenterology Report 2021年第6期9卷 543-551页

作者： Masayasu Horibe Eisuke Iwasaki Juntaro Matsuzaki Fateh Bazerbachi Tetsuji Kaneko Kazuhiro Minami Seiichiro Fukuhara Tatsuhiro Masaoka Naoki Hosoe Yuki Ogura Shin Namiki Yasuo Hosoda Haruhiko Ogata Takanori Kanai Division of Gastroenterology and Hepatology Department of Internal MedicineKeio University School of MedicineTokyoJapan Division of Gastroenterology and Hepatology Mayo ClinicMNUSA Interventional endoscopy Program CentraCareSt Cloud HospitalMNUSA Department of Clinical Trial Tokyo Metropolitan Children’s Medical CenterTokyoJapan Teikyo Academic Research Center Teikyo UniversityTokyoJapan Center for Diagnostic and therapeutic endoscopy Keio University HospitalTokyoJapan Department of Gastroenterology and Hepatology Tokyo Metropolitan Tama Medical CenterTokyoJapan Division of Gastroenterology Department of Internal MedicineNational Hospital Organization Saitama National HospitalSaitamaJapan

Background Guidelines recommend that all patients with upper gastrointestinal bleeding(UGIB)undergo endoscopy within 24 *** is unclear whether a subgroup may benefit from an urgent *** aimed to evaluate the influence of endoscopic hemostasis and urgent endoscopy on mortality in UGIB patients with high-risk stigmata(HRS).Methods Consecutive patients with suspected UGIB were enrolled in three Japanese hospitals with a policy to perform endoscopy within 24 *** primary outcome was 30-day *** hemostasis and endoscopy timing(urgent,6h;early,>6h)were evaluated in a regression model adjusting for age,systolic pressure,heart rate,hemoglobin,creatinine,and variceal bleeding in multivariate analysis.A propensity score of 1:1 matched sensitivity analysis was also *** HRS were present in 886 of 1966 patients,and 35 of 886(3.95%)patients *** urgent-endoscopy time(n=769)was 3.0h(interquartile range[IQR],2.0–4.0 h)and early endoscopy(n紏117)was 12.0h(IQR,8.5–19.0 h).Successful endoscopic hemostasis and urgent endoscopy were significantly associated with reduced mortality in multivariable analysis(odds ratio[OR],0.22;95%confidence interval[CI],0.09–0.52;P=0.0006,and OR,0.37;95%CI,0.16–0.87;P=0.023,respectively).In a propensity-score-matched analysis of 115 pairs,adjusted comparisons showed significantly lower mortality of urgent vs early endoscopy(2.61%vs 7.83%,Pendoscopy rather than early endoscopy in reducing *** triage scores that predict the presence of such lesions is important.

关键词： UGIB urgent endoscopy non-variceal bleeding variceal bleeding HARBINGER GBS upper gastrointestinal bleeding

Measurement of prostaglandin metabolites is useful in diagnosis of small bowel ulcerations

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World Journal of Gastroenterology 2019年第14期25卷 1753-1763页

作者： Yuichi Matsuno Junji Umeno Motohiro Esaki Yoichiro Hirakawa Yuta Fuyuno Yasuharu Okamoto Atsushi Hirano Shigeyoshi Yasukawa Fumihito Hirai Toshiyuki Matsui Shuhei Hosomi Kenji Watanabe Naoki Hosoe Haruhiko Ogata Tadakazu Hisamatsu Shunichi Yanai Shuji Kochi Koichi Kurahara Tsuneyoshi Yao Takehiro Torisu Takanari Kitazono Takayuki Matsumoto Department of Medicine and Clinical Science Graduate School of Medical Sciences Kyushu University Department of Endoscopic Diagnostics and therapeutic Saga University Hospital Department of Epidemiology and Public Health Graduate School of Medical Sciences Kyushu University Department of Gastroenterology Fukuoka University Chikushi Hospital Department of Gastroenterology Osaka City University Graduate School of Medicine Department of Intestinal Inflammation Research Hyogo College of Medicine Center for Diagnostic and therapeutic endoscopy School of Medicine Keio University the Third Department of Internal Medicine Kyorin University School of Medicine Division of Gastroenterology Department of Internal Medicine Iwate Medical University Division of Gastroenterology Matsuyama Red Cross Hospital Department of Gastroenterology Sada Hospital

BACKGROUND We recently reported on a hereditary enteropathy associated with a gene encoding a prostaglandin transporter and referred to as chronic enteropathy associated with SLCO2 A1 gene(CEAS). Crohn's disease(CD) is a major differential diagnosis of CEAS, because these diseases share some clinical features. Therefore, there is a need to develop a convenient screening test to distinguish CEAS from *** To examine whether prostaglandin E major urinary metabolites(PGE-MUM) can serve as a biomarker to distinguish CEAS from *** This was a transactional study of 20 patients with CEAS and 98 patients with *** was diagnosed by the confirmation of homozygous or compound heterozygous mutation of SLCO2 A1. We measured the concentration of PGEMUM in spot urine by radioimmunoassay, and the concentration was compared between the two groups of patients. We also determined the optimal cut-off value of PGE-MUM to distinguish CEAS from CD by receiver operating characteristic(ROC) curve *** Twenty Japanese patients with CEAS and 98 patients with CD were ***-MUM concentration in patients with CEAS was significantly higher than that in patients with CD(median 102.7 vs 27.9 μg/g × Cre, P < 0.0001). One log unit increase in PGE-MUM contributed to 7.3 increase in the likelihood for the diagnosis of CEAS [95% confidence interval(CI) 3.2-16.7]. A logistic regression analysis revealed that the association was significant even after adjusting confounding factors(adjusted odds ratio 29.6, 95%CI 4.7-185.7). ROC curve analysis revealed the optimal PGE-MUM cut-off value for the distinction of CEAS from CD to be 48.9 μg/g × Cre with 95.0% sensitivity and 79.6% *** PGE-MUM measurement is a convenient, non-invasive and useful test for the distinction of CEAS from CD.

关键词： Chronic enteropathy associated with SLCO2A1 gene Prostaglandin E major urinary metabolites Chronic nonspecific multiple ulcers of the small intestine Crohn's disease Small intestine

Endoscopic characteristics of small intestinal malignant tumors observed by balloon-assisted enteroscopy

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World Journal of Gastrointestinal endoscopy 2019年第5期11卷 373-382页

作者： Tomofumi Horie Naoki Hosoe Kaoru Takabayashi Yukie Hayashi Kenji JL Limpias Kamiya Ryoichi Miyanaga Shinta Mizuno Kayoko Fukuhara Seiichiro Fukuhara Makoto Naganuma Masayuki Shimoda Haruhiko Ogata Takanori Kanai Division of Gastroenterology and Hepatology Department of Internal MedicineSchool of MedicineKeio University Center for Diagnostic and therapeutic endoscopy School of MedicineKeio University Department of Pathology School of MedicineKeio University

BACKGROUND Capsule endoscopy and balloon-assisted enteroscopy(BAE) enable visualization of rare small bowel conditions such as small intestinal malignant ***,details of the endoscopic characteristics of small intestinal malignant tumors are still *** To elucidate the endoscopic characteristics of small intestinal malignant *** From March 2005 to February 2017,1329 BAE procedures were performed at Keio University Hospital. Of these procedures,malignant tumors were classified into three groups,Group 1: epithelial tumors including primary small intestinal cancer,metastatic small intestinal cancer,and direct small intestinal invasion by an adjacent organ cancer; Group 2: small intestinal malignant lymphoma; and Group 3,small intestinal gastrointestinal stromal tumors. We systematically collected clinical and endoscopic data from patients' medical records to determine the endoscopic characteristics for each *** The number of patients in each group was 16(Group 1),23(Group 2),and 6(Group 3),and the percentage of solitary tumors was 100%,43.5%,and 100%,respectively(P < 0.001). Patients' clinical background parameters including age,symptoms,and laboratory data were not significantly different between the groups. Seventy-five percent of epithelial tumors(Group 1) were located in the upper small intestine(duodenum and ileum),and approximately 70% of gastrointestinal stromal tumors(Group 3) were located in the jejunum. Solitary protruding or mass-type tumors were not seen in malignant lymphoma(Group2)(P < 0.001). Stenosis was seen more often in Group 1,(68.8%,27.3%,and 0%;Group 1,2,and 3,respectively; P = 0.004). Enlarged white villi inside and/or surrounding the tumor were seen in 12.5%,54.5%,and 0% in Group 1,2,and 3,respectively(P = 0.001).CONCLUSION The differential diagnosis of small intestinal malignant tumors could be tentatively made based on BAE findings.

关键词： Small intestine Malignant Tumor Double balloon enteroscopy Balloon enteroscopy Video capsule endoscopy endoscopy

Massive duodenal variceal bleed; complication of extra hepatic portal hypertension: Endoscopic management and literature review

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World Journal of Gastrointestinal Pharmacology and therapeutics 2015年第4期6卷 248-252页

作者： Christopher Steevens Maisa Abdalla Truptesh H Kothari Vivek Kaul Shivangi Kothari Division of Gastroenterology and Hepatology Center for Advanced Therapeutic Endoscopy University of Rochester Medical Center Developmental endoscopy Lab at UR Division of Gastroenterology and Hepatology Center for Advanced Therapeutic Endoscopy University of Rochester Medical Center

Bleeding from duodenal varices is reported to be a catastrophic and often fatal event. Most of the cases in the literature involve patients with underlying cirrhosis. However, approximately one quarter of duodenal variceal bleeds is caused by extrahepatic portal hypertension and they represent a unique population given their lack of liver dysfunction. The authors present a case where a 61-year-old male with history of remote crush injury presented with bright red blood per rectum and was found to have bleeding from massive duodenal varices. Injection sclerotherapy with ethanolamine was performed and the patient experienced a favorable outcome with near resolution of his varices on endoscopic follow-up. The authors conclude that sclerotherapy is a reasonable first line therapy and review the literature surrounding the treatment of duodenal varices secondary to extrahepatic portal hypertension.

关键词： Extrahepatic portal hypertension Duodenal varices

Endoscopic ultrasound-guided drainage of pancreatic fluid collections: The impact of evolving experience and new technologies in diagnosis and treatment over the last two decades

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Hepatobiliary & Pancreatic Diseases International 2020年第1期19卷 68-73页

作者： Pietro Gambitta Anna Maffioli Jean Spiropoulos Antonio Armellino Maurizio Vertemati Paolo Aseni endoscopy Unit ASST Grande Ospedale Metropolitano NiguardaMilanItaly endoscopy Unit ASST Fatebenefratelli SaccoMilanItaly Chirurgia Generale 1 ASST Fatebenefratelli SaccoMilanItaly endoscopy Division Ospedale San Leopoldo Mandic di MerateASST LeccoLeccoItaly Dipartimento di Scienze Biomediche Dipartimento di Scienze Biomediche Cliniche“L.Sacco” Universitàdegli Studi di MilanoMilanItaly Department of Emergency Medicine ASST Grande Ospedale Metropolitano NiguardaMilanItaly

Background: Endoscopic ultrasound (EUS)-guided drainage is the preferred approach for drainage of pan- creatic uid collections (PFCs) due to the better experience and signi cant progress using newer stents and access devices during last decade. This study aimed to evaluate the role of the evolving experience and possible in uence of new technological devices on the outcome of patients evaluated for PFCs and submitted to EUS-guided drainage during two different periods: the early period at the beginning of experience when a standardized technique was used and the late period when the increased experience of the operator, combined with different stents quality were introduced in the management of PFCs. Methods: We retrospectively analyzed the clinical data of a cohort of 91 consecutive patients, who underwent EUS-guided drainage of symptomatic PFCs from October 2001 to September 2017. Demographic, therapeutic results, complications, and outcomes were compared between early years’ group (2001 2008) and late years’ group (2009 2017). Results: Endoscopic treatment was successfully achieved in 55.6% (20/36) of patients in the early years’ group, and in 96.4% (53/55) in the late years’ group. Eighteen patients (12 in early years’ and 6 in the late year’s group) required additional open surgery. Procedural complications were observed in 5 patients, 4 in early years’ and 1 in late years’ group. Mortality was registered in two patients (2.2%), one for each group. Conclusions: During our long-term survey using EUS-guided endoscopic drainage of PFCs, signi cantly better outcomes in term of improved success rate and decrease complications rate were observed during the late period.

关键词： Endoscopic ultrasound Acute necrotizing pancreatitis Pancreatic fluid collections Pancreatic pseudocyst

Diagnosis of Ascaris lumbricoides infection using capsule endoscopy

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World Journal of Gastrointestinal endoscopy 2013年第4期5卷 189-190页

作者： Eduardo Tomohissa Yamashita Wagner Takahashi Daniel Yuiti Kuwashima Tiago Ribeiro Langoni Adriana Costa-Genzini advanced Center of Diagnostic and therapeutic endoscopy UNIMED Santa Helena Hospital

Ascaris lumbricoides (A. lumbricoides ) is the most common intestinal roundworm parasite, infecting approximately one quarter of the world's population. Infection can lead to various complications because it can spread along the gastrointestinal tract. Although A. lumbricoides infection is a serious healthcare issue in developing countries, it now also has a worldwide distribution as a result of increased immigration and travel. Intestinal obstruction is the most common complication of A. lumbricoides infection, potentially leading to even more serious consequences such as small bowel perforation and peritonitis. Diagnosis is based primarily on stool samples and the patient's history. Early diagnosis, aided in part by knowledge of the local prevalence, can result in early treatment, thereby preventing surgical complications associated with intestinal obstruction. Further, delay in diagnosis may have fatal consequences. Capsule endoscopy can serve as a crucial, non-invasive diagnostic toolfor A. lumbricoides infection, especially when other diagnostic methods have failed to detect the parasite. We report a case of A. lumbricoides infection that resulted in intestinal obstruction at the level of the ileum. Both stool sample examination and open surgery failed to indicate the presence of A. lumbricoides, and the cause of the obstruction was only revealed by capsule endoscopy. The patient was treated with anthelmintics.

关键词： Capsule endoscopy Ascaris lumbricoides Intestinal obstruction