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Tytuł :
Endoscopic ultrasound-guided rendezvous with a combination of 22-gauge needle and 0.018-inch guidewire for acute cholangitis with Cronkhite-Canada syndrome.
Autorzy :
Takahashi K; Third Department of Internal Medicine, University of Toyama, Toyama, Japan.
Yasuda I; Third Department of Internal Medicine, University of Toyama, Toyama, Japan.
Hanaoka T; Third Department of Internal Medicine, University of Toyama, Toyama, Japan.
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Źródło :
Digestive endoscopy : official journal of the Japan Gastroenterological Endoscopy Society [Dig Endosc] 2021 Jul; Vol. 33 (5), pp. e102-e103. Date of Electronic Publication: 2021 Apr 20.
Typ publikacji :
Journal Article
MeSH Terms :
Cholangitis*/diagnostic imaging
Cholangitis*/etiology
Cholangitis*/surgery
Intestinal Polyposis*
Catheterization ; Endoscopic Ultrasound-Guided Fine Needle Aspiration ; Endosonography ; Humans ; Needles ; Ultrasonography, Interventional
Czasopismo naukowe
Tytuł :
Letter to the Editor in Response to "Endoscopic Recognition and Management Strategies for Malignant Colorectal Polyps: Recommendations of the US Multi-Society Task Force on Colorectal Cancer".
Autorzy :
Soetikno R; Academy of Endoscopy, Woodside, California and, Division of Gastroenterology, San Francisco Veterans Affairs Medical Center, San Francisco, California.
Chiu HM; Department of Internal Medicine, College of Medicine, National Taiwan University, Taipei, Taiwan and, Department of Internal Medicine and, Health Management Center, National Taiwan University Hospital, Taipei, Taiwan.
Asokkumar R; Department of Gastroenterology and Hepatology, Singapore General Hospital, Singapore.
Sanduleanu S; Academy of Endoscopy, Woodside, California.
Tanaka S; Department of Endoscopy and Medicine, Hiroshima University, Hiroshima, Japan.
Rastogi A; Department of Gastroenterology, University of Kansas Medical Center, Kansas City, Kansas.
Uedo N; Department of Gastrointestinal Oncology, Osaka International Cancer Institute, Osaka, Japan.
Hammad H; Division of Gastroenterology and Hepatology, University of Colorado Anschutz Medical Campus, Aurora, Colorado.
Triadafilopoulos G; Division of Gastroenterology and Hepatology, Stanford University, Palo Alto, California.
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Źródło :
Gastroenterology [Gastroenterology] 2021 May; Vol. 160 (6), pp. 2216-2220. Date of Electronic Publication: 2020 Dec 30.
Typ publikacji :
Letter; Comment
MeSH Terms :
Colonic Polyps*/diagnosis
Colorectal Neoplasms*/diagnosis
Colorectal Neoplasms*/epidemiology
Colorectal Neoplasms*/therapy
Intestinal Polyposis*
Advisory Committees ; Colonoscopy ; Humans
Opinia redakcyjna
Tytuł :
Underwater versus conventional endoscopic mucosal resection for colorectal polyps.
Autorzy :
Ma B; Department of Colorectal Surgery, Cancer Hospital of China Medical University, Liaoning Cancer Hospital and Institute, Shenyang, China.
Li P; Department of Thoracic Surgery, First Hospital of China Medical University, Shenyang, China.
Li W; Department of Thoracic Surgery, First Hospital of China Medical University, Shenyang, China.
Yang S; Department of Thoracic Surgery, First Hospital of China Medical University, Shenyang, China.
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Źródło :
Gastrointestinal endoscopy [Gastrointest Endosc] 2021 May; Vol. 93 (5), pp. 1192.
Typ publikacji :
Letter; Comment
MeSH Terms :
Colonic Polyps*/surgery
Endoscopic Mucosal Resection*
Intestinal Polyposis*
Colonoscopy ; Humans ; Intestinal Polyps
Opinia redakcyjna
Tytuł :
[Weight loss, diarrhea and dystrophic alterations of the fingernails in an 80-year-old male patient].
Autorzy :
Strohmeier M; Abteilung für Gastroenterologie, Klinikum Traunstein, Cuno-Niggl-Straße 3, 83278, Traunstein, Deutschland. .
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Transliterated Title :
Gewichtsverlust, Diarrhöen und dystrophe Veränderungen der Fingernägel bei einem 80-jährigen Patienten.
Źródło :
Der Internist [Internist (Berl)] 2021 Jan; Vol. 62 (1), pp. 100-105.
Typ publikacji :
Case Reports; Journal Article
MeSH Terms :
Alopecia/*etiology
Diarrhea/*etiology
Hyperpigmentation/*etiology
Intestinal Polyposis/*diagnosis
Intestinal Polyposis/*therapy
Nails/*physiopathology
Administration, Oral ; Aged, 80 and over ; Alopecia/drug therapy ; Diarrhea/diagnosis ; Diarrhea/drug therapy ; Dietary Proteins/administration & dosage ; Edema/etiology ; Endoscopy ; Endoscopy, Gastrointestinal ; Humans ; Hyperpigmentation/drug therapy ; Infusions, Intravenous ; Intestinal Polyposis/complications ; Intestinal Polyposis/pathology ; Male ; Prednisolone/administration & dosage ; Proton Pump Inhibitors/therapeutic use ; Treatment Outcome ; Weight Loss
Czasopismo naukowe
Tytuł :
Cronkhite-Canada syndrome associated with perianal condyloma acuminatum with malignant transformation: A case report.
Autorzy :
Wang W; Binzhou Medical University Hospital, The Yellow Rive Second Road, Binzhou City, Shandong Province, China.
Cheng XY
Xue F
Liu HY
Lian HF
Liu CX
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Źródło :
Medicine [Medicine (Baltimore)] 2021 Mar 12; Vol. 100 (10), pp. e25067.
Typ publikacji :
Case Reports; Journal Article
MeSH Terms :
Anus Neoplasms/*diagnosis
Carcinoma, Squamous Cell/*diagnosis
Condylomata Acuminata/*diagnosis
Intestinal Polyposis/*diagnosis
Anal Canal/pathology ; Anal Canal/surgery ; Anus Neoplasms/etiology ; Anus Neoplasms/pathology ; Anus Neoplasms/therapy ; Carcinoma, Squamous Cell/etiology ; Carcinoma, Squamous Cell/pathology ; Carcinoma, Squamous Cell/therapy ; Cell Transformation, Neoplastic ; Condylomata Acuminata/etiology ; Condylomata Acuminata/pathology ; Condylomata Acuminata/therapy ; Endoscopy, Gastrointestinal ; Glucocorticoids/administration & dosage ; Glutamine/administration & dosage ; Humans ; Intestinal Polyposis/complications ; Intestinal Polyposis/therapy ; Male ; Middle Aged ; Nutritional Support ; Treatment Outcome
Czasopismo naukowe
Tytuł :
Aplastic Anemia in a Patient with Cronkhite-Canada Syndrome.
Autorzy :
Kidoguchi K; Division of Hematology, Respiratory Medicine and Oncology, Department of Internal Medicine, Faculty of Medicine, Saga University, Japan.
Kubota Y; Division of Hematology, Respiratory Medicine and Oncology, Department of Internal Medicine, Faculty of Medicine, Saga University, Japan.; Department of Transfusion Medicine, Saga University Hospital, Japan.
Fujimoto S; Division of Gastroenterology, Department of Internal Medicine, Faculty of Medicine, Saga University, Japan.
Sakata Y; Division of Gastroenterology, Department of Internal Medicine, Faculty of Medicine, Saga University, Japan.
Kizuka-Sano H; Division of Hematology, Respiratory Medicine and Oncology, Department of Internal Medicine, Faculty of Medicine, Saga University, Japan.
Yamaguchi K; Division of Hematology, Respiratory Medicine and Oncology, Department of Internal Medicine, Faculty of Medicine, Saga University, Japan.
Ureshino H; Division of Hematology, Respiratory Medicine and Oncology, Department of Internal Medicine, Faculty of Medicine, Saga University, Japan.
Katsuya H; Division of Hematology, Respiratory Medicine and Oncology, Department of Internal Medicine, Faculty of Medicine, Saga University, Japan.
Ando T; Division of Hematology, Respiratory Medicine and Oncology, Department of Internal Medicine, Faculty of Medicine, Saga University, Japan.
Esaki M; Division of Gastroenterology, Department of Internal Medicine, Faculty of Medicine, Saga University, Japan.
Kimura S; Division of Hematology, Respiratory Medicine and Oncology, Department of Internal Medicine, Faculty of Medicine, Saga University, Japan.
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Źródło :
Internal medicine (Tokyo, Japan) [Intern Med] 2021; Vol. 60 (10), pp. 1601-1605. Date of Electronic Publication: 2021 May 15.
Typ publikacji :
Case Reports; Journal Article
MeSH Terms :
Anemia, Aplastic*/complications
Anemia, Aplastic*/diagnosis
Hemoglobinuria, Paroxysmal*/complications
Hemoglobinuria, Paroxysmal*/diagnosis
Intestinal Polyposis*/complications
Intestinal Polyposis*/diagnosis
Histocompatibility Antigens Class I ; Humans ; Male ; Mesalamine ; Middle Aged
Czasopismo naukowe
Tytuł :
Cronkhite–Canada syndrome
Autorzy :
Nagy A; 1 Szent Imre Egyetemi Oktatókórház, Gasztroenterológia Profil, Budapest, Tétényi út 12-16., 1115.
Tóth L; 1 Szent Imre Egyetemi Oktatókórház, Gasztroenterológia Profil, Budapest, Tétényi út 12-16., 1115.
Theisz J; 1 Szent Imre Egyetemi Oktatókórház, Gasztroenterológia Profil, Budapest, Tétényi út 12-16., 1115.
Bajkó N; 2 Szent Imre Egyetemi Oktatókórház, Képalkotó Diagnosztikai Osztály, Budapest.
Zolnai Z; 3 Szent Imre Egyetemi Oktatókórház, Patológiai Osztály, Budapest.
Varga M; 4 Szent Imre Egyetemi Oktatókórház, Dietetikai Szolgálat, Budapest.
Igaz I; 1 Szent Imre Egyetemi Oktatókórház, Gasztroenterológia Profil, Budapest, Tétényi út 12-16., 1115.; 5 Szent Margit Kórház, Gasztroenterológia Osztály, Budapest.
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Transliterated Title :
Cronkhite-Canada-szindróma.
Źródło :
Orvosi hetilap [Orv Hetil] 2021 Mar 14; Vol. 162 (11), pp. 432-438. Date of Electronic Publication: 2021 Mar 14.
Typ publikacji :
Case Reports
MeSH Terms :
Intestinal Polyposis*/diagnosis
Aged ; Humans ; Hungary ; Male
Raport
Tytuł :
Estimated Prevalence of Cronkhite-Canada Syndrome, Chronic Enteropathy Associated With SLCO2A1 Gene, and Intestinal Behçet's Disease in Japan in 2017: A Nationwide Survey.
Autorzy :
Oba MS; Department of Medical Statistics, Toho University.
Murakami Y; Department of Medical Statistics, Toho University.
Nishiwaki Y; Department of Environmental and Occupational Health, Toho University.
Asakura K; Department of Environmental and Occupational Health, Toho University.
Ohfuji S; Department of Public Health, Osaka City University Graduate School of Medicine.
Fukushima W; Department of Public Health, Osaka City University Graduate School of Medicine.
Nakamura Y; Department of Public Health, Jichi Medical University.
Suzuki Y; Department of Internal Medicine, Toho University Sakura Medical Center.
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Źródło :
Journal of epidemiology [J Epidemiol] 2021 Feb 05; Vol. 31 (2), pp. 139-144. Date of Electronic Publication: 2020 Feb 22.
Typ publikacji :
Journal Article
MeSH Terms :
Behcet Syndrome/*epidemiology
Intestinal Diseases/*epidemiology
Intestinal Polyposis/*epidemiology
Organic Anion Transporters/*genetics
Behcet Syndrome/genetics ; Chronic Disease ; Female ; Health Surveys ; Humans ; Intestinal Diseases/genetics ; Intestinal Polyposis/genetics ; Japan/epidemiology ; Male ; Prevalence
Czasopismo naukowe
Tytuł :
A case of Helicobacter pylori-negative gastric cancer associated with Cronkhite-Canada Syndrome.
Autorzy :
Kobori I; Department of Gastroenterology, Dokkyo Medical University Saitama Medical Center, 2-1-50 Minami-koshigaya, Koshigaya, Saitama, 343-8555, Japan.
Katayama Y; Department of Gastroenterology, Dokkyo Medical University Saitama Medical Center, 2-1-50 Minami-koshigaya, Koshigaya, Saitama, 343-8555, Japan. .; Endoscopy Center, Dokkyo Medical University Saitama Medical center, 2-1-50 Minami-koshigaya, Koshigaya, Saitama, 343-8555, Japan. .
Suzuki Y; Department of Gastroenterology, Dokkyo Medical University Saitama Medical Center, 2-1-50 Minami-koshigaya, Koshigaya, Saitama, 343-8555, Japan.
Yamaguchi M; Department of Gastroenterology, Dokkyo Medical University Saitama Medical Center, 2-1-50 Minami-koshigaya, Koshigaya, Saitama, 343-8555, Japan.
Funada K; Department of Gastroenterology, Dokkyo Medical University Saitama Medical Center, 2-1-50 Minami-koshigaya, Koshigaya, Saitama, 343-8555, Japan.
Gyotoku Y; Department of Gastroenterology, Dokkyo Medical University Saitama Medical Center, 2-1-50 Minami-koshigaya, Koshigaya, Saitama, 343-8555, Japan.
Fujimoto Y; Department of Gastroenterology, Dokkyo Medical University Saitama Medical Center, 2-1-50 Minami-koshigaya, Koshigaya, Saitama, 343-8555, Japan.
Shirahasi R; Department of Gastroenterology, Dokkyo Medical University Saitama Medical Center, 2-1-50 Minami-koshigaya, Koshigaya, Saitama, 343-8555, Japan.
Kusano Y; Department of Gastroenterology, Dokkyo Medical University Saitama Medical Center, 2-1-50 Minami-koshigaya, Koshigaya, Saitama, 343-8555, Japan.
Ban S; Department of Pathology, Dokkyo Medical University Saitama Medical center, 2-1-50 Minami-koshigaya, Koshigaya, Saitama, 343-8555, Japan.
Tamano M; Department of Gastroenterology, Dokkyo Medical University Saitama Medical Center, 2-1-50 Minami-koshigaya, Koshigaya, Saitama, 343-8555, Japan.
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Źródło :
Clinical journal of gastroenterology [Clin J Gastroenterol] 2021 Feb; Vol. 14 (1), pp. 123-128. Date of Electronic Publication: 2020 Oct 20.
Typ publikacji :
Case Reports; Journal Article
MeSH Terms :
Endoscopic Mucosal Resection*
Helicobacter Infections*/complications
Helicobacter pylori*
Intestinal Polyposis*/complications
Stomach Neoplasms*/complications
Stomach Neoplasms*/microbiology
Stomach Neoplasms*/surgery
Adult ; Gastric Mucosa ; Humans ; Male
Czasopismo naukowe
Tytuł :
Tip-in endoscopic mucosal resection: Simple, efficacious trick for endoscopic mucosal resections of large colorectal polyps.
Autorzy :
Imai K; Division of Endoscopy, Shizuoka Cancer Center, Shizuoka, Japan.
Hotta K; Division of Endoscopy, Shizuoka Cancer Center, Shizuoka, Japan.
Ono H; Division of Endoscopy, Shizuoka Cancer Center, Shizuoka, Japan.
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Źródło :
Digestive endoscopy : official journal of the Japan Gastroenterological Endoscopy Society [Dig Endosc] 2021 Jan; Vol. 33 (1), pp. 203. Date of Electronic Publication: 2020 Oct 27.
Typ publikacji :
Letter
MeSH Terms :
Colonic Polyps*/surgery
Colorectal Neoplasms*/surgery
Endoscopic Mucosal Resection*
Intestinal Polyposis*
Colonoscopy ; Humans ; Intestinal Polyps
Opinia redakcyjna
Tytuł :
SMAD4 juvenile polyposis syndrome and hereditary haemorrhagic telangiectasia presenting in a middle-aged man as a large fungating gastric mass, polyposis in both upper and lower GI tract and iron deficiency anaemia, with no known family history.
Autorzy :
Chang W; General Surgery, Mackay Base Hospital, Mackay, Queensland, Australia .
Renaut P; Pathology, Queensland Pathology, Herston, Queensland, Australia.
Pretorius C; General Surgery, Mackay Base Hospital, Mackay, Queensland, Australia.; James Cook University School of Medicine, Douglas, Queensland, Australia.
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Źródło :
BMJ case reports [BMJ Case Rep] 2020 Dec 22; Vol. 13 (12). Date of Electronic Publication: 2020 Dec 22.
Typ publikacji :
Case Reports; Journal Article
MeSH Terms :
Anemia, Iron-Deficiency/*diagnosis
Gastritis/*diagnosis
Intestinal Polyposis/*congenital
Intestinal Polyps/*diagnosis
Neoplastic Syndromes, Hereditary/*diagnosis
Telangiectasia, Hereditary Hemorrhagic/*diagnosis
Adult ; Age of Onset ; Anemia, Iron-Deficiency/blood ; Anemia, Iron-Deficiency/drug therapy ; Anemia, Iron-Deficiency/genetics ; Colon/diagnostic imaging ; Colon/pathology ; Endoscopy, Gastrointestinal ; Gastrectomy ; Gastric Mucosa/diagnostic imaging ; Gastric Mucosa/microbiology ; Gastric Mucosa/pathology ; Gastritis/microbiology ; Gastritis/pathology ; Gastritis/surgery ; Helicobacter heilmannii/isolation & purification ; Hematinics/administration & dosage ; Humans ; Hyperplasia ; Intestinal Mucosa/diagnostic imaging ; Intestinal Mucosa/pathology ; Intestinal Polyposis/complications ; Intestinal Polyposis/diagnosis ; Intestinal Polyposis/genetics ; Intestinal Polyps/genetics ; Male ; Mutation ; Neoplastic Syndromes, Hereditary/complications ; Neoplastic Syndromes, Hereditary/genetics ; Severity of Illness Index ; Smad4 Protein/genetics ; Telangiectasia, Hereditary Hemorrhagic/complications ; Telangiectasia, Hereditary Hemorrhagic/genetics ; Tomography, X-Ray Computed
SCR Disease Name :
Juvenile polyposis syndrome
Czasopismo naukowe
Tytuł :
Importance of early detection of juvenile polyposis syndrome: A case report and literature review.
Autorzy :
Shen N; Department of Laboratory Medicine.
Wang X; Department of Laboratory Medicine.
Lu Y; Department of Laboratory Medicine.
Xiao F; Department of Gastroenterology.
Xiao J; Department of Obstetrics and Gynecology, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, China.
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Źródło :
Medicine [Medicine (Baltimore)] 2020 Dec 11; Vol. 99 (50), pp. e23494.
Typ publikacji :
Case Reports; Journal Article; Review
MeSH Terms :
Intestinal Polyposis/*congenital
Neoplastic Syndromes, Hereditary/*diagnosis
Diagnosis, Differential ; Early Detection of Cancer ; Female ; Fever/etiology ; Genetic Testing ; Humans ; Intestinal Polyposis/complications ; Intestinal Polyposis/diagnosis ; Neoplastic Syndromes, Hereditary/complications ; Young Adult
SCR Disease Name :
Juvenile polyposis syndrome
Czasopismo naukowe
Tytuł :
Juvenile polyposis syndrome-hereditary hemorrhagic telangiectasia associated with a SMAD4 mutation in a girl.
Autorzy :
Hashimoto Y; Department of Pediatrics, Jichi Medical University, Shimotsuke, Tochigi, Japan.
Yokoyama K; Department of Pediatrics, Jichi Medical University, Shimotsuke, Tochigi, Japan. .
Kumagai H; Department of Pediatrics, Jichi Medical University, Shimotsuke, Tochigi, Japan.
Okada Y; Department of Pediatrics, Jichi Medical University, Shimotsuke, Tochigi, Japan.
Yamagata T; Department of Pediatrics, Jichi Medical University, Shimotsuke, Tochigi, Japan.
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Źródło :
Clinical journal of gastroenterology [Clin J Gastroenterol] 2020 Dec; Vol. 13 (6), pp. 1096-1101. Date of Electronic Publication: 2020 Sep 17.
Typ publikacji :
Case Reports; Journal Article
MeSH Terms :
Intestinal Polyposis*/congenital
Intestinal Polyposis*/genetics
Neoplastic Syndromes, Hereditary*/genetics
Telangiectasia, Hereditary Hemorrhagic*/complications
Telangiectasia, Hereditary Hemorrhagic*/diagnosis
Telangiectasia, Hereditary Hemorrhagic*/genetics
Child ; Female ; Humans ; Mutation ; Smad4 Protein/genetics
SCR Disease Name :
Juvenile polyposis syndrome
Czasopismo naukowe
Tytuł :
Cronkhite-Canada Syndrome Associated with Gastric Outlet Obstruction and Membranous Nephropathy: A Case Report and Review of the Literature.
Autorzy :
Onozato Y; Department of Gastroenterology, Faculty of Medicine, Yamagata University, Japan.
Sasaki Y; Department of Gastroenterology, Faculty of Medicine, Yamagata University, Japan.
Abe Y; Division of Endoscopy, Yamagata University Hospital, Japan.
Yaoita T; Department of Gastroenterology, Faculty of Medicine, Yamagata University, Japan.
Yagi M; Division of Endoscopy, Yamagata University Hospital, Japan.
Mizumoto N; Department of Gastroenterology, Faculty of Medicine, Yamagata University, Japan.
Shoji M; Department of Gastroenterology, Faculty of Medicine, Yamagata University, Japan.
Kon T; Department of Gastroenterology, Faculty of Medicine, Yamagata University, Japan.
Sakai T; Department of Gastroenterology, Faculty of Medicine, Yamagata University, Japan.
Ueno Y; Department of Gastroenterology, Faculty of Medicine, Yamagata University, Japan.
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Źródło :
Internal medicine (Tokyo, Japan) [Intern Med] 2020 Nov 15; Vol. 59 (22), pp. 2871-2877. Date of Electronic Publication: 2020 Jul 14.
Typ publikacji :
Case Reports; Journal Article; Review
MeSH Terms :
Gastric Outlet Obstruction*
Glomerulonephritis, Membranous*/complications
Glomerulonephritis, Membranous*/diagnosis
Glomerulonephritis, Membranous*/drug therapy
Intestinal Polyposis*/complications
Intestinal Polyposis*/diagnosis
Intestinal Polyposis*/drug therapy
Humans ; Male ; Middle Aged ; Neoplasm Recurrence, Local ; Prednisolone/therapeutic use
Czasopismo naukowe
Tytuł :
Chromosomal translocation disrupting the SMAD4 gene resulting in the combined phenotype of Juvenile polyposis syndrome and Hereditary Hemorrhagic Telangiectasia.
Autorzy :
Aagaard KS; Department of Otorhinolaryngology, Odense University Hospital, Odense, Denmark.
Brusgaard K; Department of Clinical Genetics, Odense University Hospital, Odense, Denmark.
Miceikaite I; Department of Clinical Genetics, Odense University Hospital, Odense, Denmark.
Larsen MJ; Department of Clinical Genetics, Odense University Hospital, Odense, Denmark.
Kjeldsen AD; Department of Otorhinolaryngology, Odense University Hospital, Odense, Denmark.
Lester EB; Department of Clinical Genetics, Odense University Hospital, Odense, Denmark.
Ousager LB; Department of Clinical Genetics, Odense University Hospital, Odense, Denmark.
Tørring PM; Department of Clinical Genetics, Odense University Hospital, Odense, Denmark.
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Źródło :
Molecular genetics & genomic medicine [Mol Genet Genomic Med] 2020 Nov; Vol. 8 (11), pp. e1498. Date of Electronic Publication: 2020 Oct 15.
Typ publikacji :
Journal Article
MeSH Terms :
Phenotype*
Translocation, Genetic*
Intestinal Polyposis/*congenital
Neoplastic Syndromes, Hereditary/*genetics
Smad4 Protein/*genetics
Telangiectasia, Hereditary Hemorrhagic/*genetics
Adult ; Chromosome Breakpoints ; Chromosomes, Human, Pair 1/genetics ; Chromosomes, Human, Pair 18/genetics ; Female ; Humans ; Intestinal Polyposis/genetics ; Intestinal Polyposis/pathology ; Male ; Neoplastic Syndromes, Hereditary/pathology ; Pedigree ; Telangiectasia, Hereditary Hemorrhagic/pathology
SCR Disease Name :
Juvenile polyposis syndrome
Czasopismo naukowe
Tytuł :
Familial juvenile polyposis syndrome with a de novo germline missense variant in BMPR1A gene: a case report.
Autorzy :
Liu Q; Department of Medical Oncology, Zhongshan Hospital, Fudan University, 180 Fenglin Road, Shanghai, 200032, China.
Liu M; Department of Medical Oncology, Zhongshan Hospital, Fudan University, 180 Fenglin Road, Shanghai, 200032, China.
Liu T; Department of Medical Oncology, Zhongshan Hospital, Fudan University, 180 Fenglin Road, Shanghai, 200032, China.
Yu Y; Department of Medical Oncology, Zhongshan Hospital, Fudan University, 180 Fenglin Road, Shanghai, 200032, China. .
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Źródło :
BMC medical genetics [BMC Med Genet] 2020 Oct 08; Vol. 21 (1), pp. 196. Date of Electronic Publication: 2020 Oct 08.
Typ publikacji :
Case Reports; Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
Germ-Line Mutation*
Mutation, Missense*
Adenomatous Polyposis Coli/*genetics
Bone Morphogenetic Protein Receptors, Type I/*genetics
Intestinal Polyposis/*congenital
Neoplastic Syndromes, Hereditary/*genetics
Adenomatous Polyposis Coli/diagnosis ; Adult ; Family Health ; Female ; Genetic Testing ; Heterozygote ; Humans ; Intestinal Polyposis/diagnosis ; Intestinal Polyposis/genetics ; Male ; Neoplastic Syndromes, Hereditary/diagnosis ; Pedigree ; Smad4 Protein/genetics
SCR Disease Name :
Juvenile polyposis syndrome
Czasopismo naukowe
Tytuł :
SMAD4 mutation and the combined juvenile polyposis and hereditary hemorrhage telangiectasia syndrome: a single center experience.
Autorzy :
McDonald NM; Department of Internal Medicine, Mayo Clinic College of Medicine, Rochester, MN, USA.
Ramos GP; Division of Gastroenterology and Hepatology, Mayo Clinic College of Medicine, Rochester, MN, USA. .
Sweetser S; Division of Gastroenterology and Hepatology, Mayo Clinic College of Medicine, Rochester, MN, USA.
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Źródło :
International journal of colorectal disease [Int J Colorectal Dis] 2020 Oct; Vol. 35 (10), pp. 1963-1965. Date of Electronic Publication: 2020 Jun 15.
Typ publikacji :
Journal Article
MeSH Terms :
Intestinal Polyposis*/complications
Intestinal Polyposis*/congenital
Intestinal Polyposis*/genetics
Telangiectasia, Hereditary Hemorrhagic*/complications
Telangiectasia, Hereditary Hemorrhagic*/genetics
Adult ; Female ; Humans ; Male ; Mutation/genetics ; Neoplastic Syndromes, Hereditary ; Retrospective Studies ; Smad4 Protein/genetics ; Young Adult
SCR Disease Name :
Juvenile polyposis syndrome
Czasopismo naukowe
Tytuł :
Sustained clinical response to infliximab in refractory Cronkhite-Canada syndrome.
Autorzy :
Jiang CD; Gastroenterology, Wellington Hospital, Wellington, New Zealand .
Myint H; Gastroenterology, Auckland City Hospital, Auckland, New Zealand.
Tie A; Department of Pathology and Molecular Medicine, University of Otago, Wellington, New Zealand.
Stace NH; Department of Medicine, University of Otago, Wellington, New Zealand.
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Źródło :
BMJ case reports [BMJ Case Rep] 2020 Dec 21; Vol. 13 (12). Date of Electronic Publication: 2020 Dec 21.
Typ publikacji :
Case Reports; Journal Article
MeSH Terms :
Gastrointestinal Agents/*therapeutic use
Immunosuppressive Agents/*pharmacology
Infliximab/*therapeutic use
Intestinal Polyposis/*drug therapy
Azathioprine/pharmacology ; Azathioprine/therapeutic use ; Colon/diagnostic imaging ; Colon/pathology ; Colonoscopy ; Drug Resistance ; Gastrointestinal Agents/pharmacology ; Gastroscopy ; Glucocorticoids/pharmacology ; Glucocorticoids/therapeutic use ; Humans ; Immunosuppressive Agents/therapeutic use ; Induction Chemotherapy/methods ; Infliximab/pharmacology ; Intestinal Mucosa/diagnostic imaging ; Intestinal Mucosa/pathology ; Intestinal Polyposis/diagnosis ; Male ; Middle Aged ; Pyloric Antrum/diagnostic imaging ; Pyloric Antrum/pathology ; Treatment Outcome
Czasopismo naukowe
Tytuł :
Cold snare piecemeal EMR of large sessile colonic polyps >20 mm: a call for dedicated snares.
Autorzy :
Bronswijk M; Department of Gastroenterology and Hepatology, University Hospitals Leuven, Leuven, Belgium.
Demedts I; Department of Gastroenterology and Hepatology, University Hospitals Leuven, Leuven, Belgium.
Bisschops R; Department of Gastroenterology and Hepatology, University Hospitals Leuven, Leuven, Belgium.
Roelandt P; Department of Gastroenterology and Hepatology, University Hospitals Leuven, Leuven, Belgium.
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Źródło :
Gastrointestinal endoscopy [Gastrointest Endosc] 2020 Nov; Vol. 92 (5), pp. 1141-1142.
Typ publikacji :
Letter; Comment
MeSH Terms :
Colonic Polyps*/surgery
Intestinal Polyposis*
Colonoscopy ; Humans
Opinia redakcyjna
Tytuł :
Disease expression in juvenile polyposis syndrome: a retrospective survey on a cohort of 221 European patients and comparison with a literature-derived cohort of 473 SMAD4/BMPR1A pathogenic variant carriers.
Autorzy :
Blatter R; Institute for Medical Genetics and Pathology, University Hospital Basel, and Research Group Human Genomics, Department of Research, University of Basel, Basel, Switzerland.
Tschupp B; Institute for Medical Genetics and Pathology, University Hospital Basel, and Research Group Human Genomics, Department of Research, University of Basel, Basel, Switzerland.
Aretz S; Institute of Human Genetics, University Hospital Bonn, Bonn, Germany.; National Center for Hereditary Tumour Syndromes, University Hospital, Bonn, Germany.
Bernstein I; Department of Surgical Gastroenterology, Aalborg University Hospital, Aalborg, and Danish HNPCC Registry, Department of Surgical Gastroenterology, Hvidovre University Hospital, Hvidovre, Denmark.
Colas C; Department of Oncogenetics and Angiogenetics, Pitie-Salpetriere Hospital, Sorbonne Université, Paris, France.; Department of Genetics, Institut Curie, Université de Recherche Paris Sciences et Lettres, Paris, France.
Evans DG; Department of Genomic Medicine, Manchester Universities NHS Foundation Trust and Division of Evolution and Genomic Sciences, University of Manchester, Manchester, United Kingdom.
Genuardi M; Fondazione Policlinico Universitario A. Gemelli IRCCS, UOC Genetica Medica, Rome, Italy.; Università Cattolica del Sacro Cuore, Istituto di Medicina Genomica, Rome, Italy.
Hes FJ; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.
Hüneburg R; National Center for Hereditary Tumour Syndromes, University Hospital, Bonn, Germany.; Department of Internal Medicine I, University Hospital Bonn, Bonn, Germany.
Järvinen H; Department of Surgery, Helsinki University Central Hospital, Helsinki University, Helsinki, Finland.
Lalloo F; Department of Genomic Medicine, Manchester Universities NHS Foundation Trust and Division of Evolution and Genomic Sciences, University of Manchester, Manchester, United Kingdom.
Moeslein G; Center for Hereditary Tumors, HELIOS Klinikum Wuppertal, University Witten-Herdecke, Wuppertal, Germany.
Renkonen-Sinisalo L; Department of Surgery, Helsinki University Central Hospital, Helsinki University, Helsinki, Finland.
Resta N; Division of Medical Genetics, Department of Biomedical Sciences and Human Oncology (DIMO), University of Bari 'Aldo Moro', Bari, Italy.
Spier I; Institute of Human Genetics, University Hospital Bonn, Bonn, Germany.; National Center for Hereditary Tumour Syndromes, University Hospital, Bonn, Germany.
Varvara D; Division of Medical Genetics, Department of Biomedical Sciences and Human Oncology (DIMO), University of Bari 'Aldo Moro', Bari, Italy.
Vasen H; Department of Gastroenterology and Hepatology, Leiden University Medical Centre, Leiden, The Netherlands.
Latchford AR; Polyposis Registry, St. Mark's Hospital, Harrow, United Kingdom. .
Heinimann K; Institute for Medical Genetics and Pathology, University Hospital Basel, and Research Group Human Genomics, Department of Research, University of Basel, Basel, Switzerland. .
Pokaż więcej
Źródło :
Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2020 Sep; Vol. 22 (9), pp. 1524-1532. Date of Electronic Publication: 2020 May 13.
Typ publikacji :
Journal Article; Multicenter Study; Research Support, Non-U.S. Gov't
MeSH Terms :
Intestinal Polyposis*/congenital
Intestinal Polyposis*/diagnosis
Intestinal Polyposis*/epidemiology
Intestinal Polyposis*/genetics
Neoplastic Syndromes, Hereditary*/epidemiology
Neoplastic Syndromes, Hereditary*/genetics
Adult ; Bone Morphogenetic Protein Receptors, Type I/genetics ; Germ-Line Mutation ; Humans ; Retrospective Studies ; Smad4 Protein/genetics ; Surveys and Questionnaires
SCR Disease Name :
Juvenile polyposis syndrome
Czasopismo naukowe

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