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Article: Biallelic EPCAM deletions induce tissue-specific DNA repair deficiency and cancer predisposition.

Forster, V J / Aronson, M / Zhang, C / Chung, J / Sudhaman, S / Galati, M A / Kelly, J / Negm, L / Ercan, A B / Stengs, L / Durno, C / Edwards, M / Komosa, M / Oldfield, L E / Nunes, N M / Pedersen, S / Wellum, J / Siddiqui, I / Bianchi, V /

Weil, B R / Fox, V L / Pugh, T J / Kamihara, J / Tabori, U

NPJ precision oncology

2024 Volume 8, Issue 1, Page(s) 69

Abstract: We report a case of Mismatch Repair Deficiency (MMRD) caused by germline homozygous EPCAM deletion leading to tissue-specific loss of MSH2. Through the use of patient-derived cells and organoid technologies, we performed stepwise in vitro differentiation ...

Abstract	We report a case of Mismatch Repair Deficiency (MMRD) caused by germline homozygous EPCAM deletion leading to tissue-specific loss of MSH2. Through the use of patient-derived cells and organoid technologies, we performed stepwise in vitro differentiation of colonic and brain organoids from reprogrammed EPCAM
Language	English
Publishing date	2024-03-11
Publishing country	England
Document type	Journal Article
ISSN	2397-768X
ISSN	2397-768X
DOI	10.1038/s41698-024-00537-6
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Article: Colonic polyps in children and adolescents.

Durno, C A

Canadian journal of gastroenterology = Journal canadien de gastroenterologie

2007 Volume 21, Issue 4, Page(s) 233–239

Abstract: Colonic polyps most commonly present with rectal bleeding in children. The isolated juvenile polyp is the most frequent kind of polyp identified in children. 'Juvenile' refers to the histological type of polyp and not the age of onset of the polyp. ... ...

Abstract	Colonic polyps most commonly present with rectal bleeding in children. The isolated juvenile polyp is the most frequent kind of polyp identified in children. 'Juvenile' refers to the histological type of polyp and not the age of onset of the polyp. Adolescents and adults with multiple juvenile polyps are at a significant risk of intestinal cancer. The challenge for adult and pediatric gastroenterologists is determining the precise risk of colorectal cancer in patients with juvenile polyposis syndrome. Attenuated familial adenamatous polyposis (AFAP) can occur either by a mutation at the extreme ends of the adenomatous polyposis coli gene or by biallelic mutations in the mutY homologue (MYH) gene. The identification of MYH-associated polyposis as an autosomal recessive condition has important implications for screening and management strategies. Adult and pediatric gastroenterologists need to be aware of the underlying inheritance patterns of polyposis syndromes so that patients and their families can be adequately evaluated and managed. Colonic polyps, including isolated juvenile polyps, juvenile polyposis syndrome, FAP, AFAP and MYH-associated polyposis, are discussed in the present review.
MeSH term(s)	Adenomatous Polyposis Coli/genetics ; Adenomatous Polyposis Coli/pathology ; Adolescent ; Child ; Colonic Polyps/genetics ; Colonic Polyps/pathology ; DNA Glycosylases/genetics ; Genes, APC ; Genetic Counseling ; Genetic Predisposition to Disease ; Genetic Testing ; Humans ; Mutation
Chemical Substances	DNA Glycosylases (EC 3.2.2.-) ; mutY adenine glycosylase (EC 3.2.2.-)
Language	English
Publishing date	2007-04-11
Publishing country	Canada
Document type	Journal Article ; Review
ZDB-ID	639439-5
ISSN	1916-7237 ; 0835-7900
ISSN (online)	1916-7237
ISSN	0835-7900
DOI	10.1155/2007/401674
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Article ; Online: Diagnosis and management of cancer risk in the gastrointestinal hamartomatous polyposis syndromes: recommendations from the U.S. Multi-Society Task Force on Colorectal Cancer.

Boland, C Richard / Idos, Gregory E / Durno, Carol / Giardiello, Francis M / Anderson, Joseph C / Burke, Carol A / Dominitz, Jason A / Gross, Seth / Gupta, Samir / Jacobson, Brian C / Patel, Swati G / Shaukat, Aasma / Syngal, Sapna / Robertson, Douglas J

Gastrointestinal endoscopy

2022 Volume 95, Issue 6, Page(s) 1025–1047

Abstract: The gastrointestinal hamartomatous polyposis syndromes are rare, autosomal dominant disorders associated with an increased risk of benign and malignant intestinal and extraintestinal tumors. They include Peutz-Jeghers syndrome, juvenile polyposis ... ...

Abstract	The gastrointestinal hamartomatous polyposis syndromes are rare, autosomal dominant disorders associated with an increased risk of benign and malignant intestinal and extraintestinal tumors. They include Peutz-Jeghers syndrome, juvenile polyposis syndrome, the PTEN hamartoma tumor syndrome (including Cowden's syndrome and Bannayan-Riley-Ruvalcaba syndrome), and hereditary mixed polyposis syndrome. Diagnoses are based on clinical criteria and, in some cases, confirmed by demonstrating the presence of a germline pathogenic variant. The best understood hamartomatous polyposis syndrome is Peutz-Jeghers syndrome, caused by germline pathogenic variants in the STK11 gene. The management is focused on prevention of bleeding and mechanical obstruction of the small bowel by polyps and surveillance of organs at increased risk for cancer. Juvenile polyposis syndrome is caused by a germline pathogenic variant in either the SMAD4 or BMPR1A genes, with differing clinical courses. Patients with SMAD4 pathogenic variants may have massive gastric polyposis, which can result in gastrointestinal bleeding and/or protein-losing gastropathy. Patients with SMAD4 mutations usually have the simultaneous occurrence of hereditary hemorrhagic telangiectasia (juvenile polyposis syndrome-hereditary hemorrhagic telangiectasia overlap syndrome) that can result in epistaxis, gastrointestinal bleeding from mucocutaneous telangiectasias, and arteriovenous malformations. Germline pathogenic variants in the PTEN gene cause overlapping clinical phenotypes (known as the PTEN hamartoma tumor syndromes), including Cowden's syndrome and related disorders that are associated with an increased risk of gastrointestinal and colonic polyposis, colon cancer, and other extraintestinal manifestations and cancers. Due to the relative rarity of the hamartomatous polyposis syndromes, recommendations for management are based on few studies. This U.S. Multi-Society Task Force on Colorectal Cancer consensus statement summarizes the clinical features, assesses the current literature, and provides guidance for diagnosis, assessment, and management of patients with the hamartomatous polyposis syndromes, with a focus on endoscopic management.
MeSH term(s)	Colorectal Neoplasms/complications ; Colorectal Neoplasms/diagnosis ; Colorectal Neoplasms/genetics ; Gastrointestinal Hemorrhage/complications ; Hamartoma ; Hamartoma Syndrome, Multiple/complications ; Hamartoma Syndrome, Multiple/diagnosis ; Hamartoma Syndrome, Multiple/genetics ; Humans ; Intestinal Polyposis/complications ; Intestinal Polyposis/congenital ; Intestinal Polyposis/diagnosis ; Intestinal Polyposis/genetics ; Intestinal Polyps/complications ; Neoplastic Syndromes, Hereditary ; Peutz-Jeghers Syndrome/complications ; Peutz-Jeghers Syndrome/diagnosis ; Peutz-Jeghers Syndrome/genetics ; Telangiectasia, Hereditary Hemorrhagic/complications
Language	English
Publishing date	2022-04-26
Publishing country	United States
Document type	Practice Guideline ; Journal Article
ZDB-ID	391583-9
ISSN	1097-6779 ; 0016-5107
ISSN (online)	1097-6779
ISSN	0016-5107
DOI	10.1016/j.gie.2022.02.044
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Article ; Online: Diagnosis and Management of Cancer Risk in the Gastrointestinal Hamartomatous Polyposis Syndromes: Recommendations From the US Multi-Society Task Force on Colorectal Cancer.

Gastroenterology

2022 Volume 162, Issue 7, Page(s) 2063–2085

Abstract	The gastrointestinal hamartomatous polyposis syndromes are rare, autosomal dominant disorders associated with an increased risk of benign and malignant intestinal and extraintestinal tumors. They include Peutz-Jeghers syndrome, juvenile polyposis syndrome, the PTEN hamartoma tumor syndrome (including Cowden's syndrome and Bannayan-Riley-Ruvalcaba syndrome), and hereditary mixed polyposis syndrome. Diagnoses are based on clinical criteria and, in some cases, confirmed by demonstrating the presence of a germline pathogenic variant. The best understood hamartomatous polyposis syndrome is Peutz-Jeghers syndrome, caused by germline pathogenic variants in the STK11 gene. The management is focused on prevention of bleeding and mechanical obstruction of the small bowel by polyps and surveillance of organs at increased risk for cancer. Juvenile polyposis syndrome is caused by a germline pathogenic variant in either the SMAD4 or BMPR1A genes, with differing clinical courses. Patients with SMAD4 pathogenic variants may have massive gastric polyposis, which can result in gastrointestinal bleeding and/or protein-losing gastropathy. Patients with SMAD4 mutations usually have the simultaneous occurrence of hereditary hemorrhagic telangiectasia (juvenile polyposis syndrome-hereditary hemorrhagic telangiectasia overlap syndrome) that can result in epistaxis, gastrointestinal bleeding from mucocutaneous telangiectasias, and arteriovenous malformations. Germline pathogenic variants in the PTEN gene cause overlapping clinical phenotypes (known as the PTEN hamartoma tumor syndromes), including Cowden's syndrome and related disorders that are associated with an increased risk of gastrointestinal and colonic polyposis, colon cancer, and other extraintestinal manifestations and cancers. Due to the relative rarity of the hamartomatous polyposis syndromes, recommendations for management are based on few studies. This U.S Multi-Society Task Force on Colorectal Cancer consensus statement summarizes the clinical features, assesses the current literature, and provides guidance for diagnosis, assessment, and management of patients with the hamartomatous polyposis syndromes, with a focus on endoscopic management.
MeSH term(s)	Colorectal Neoplasms/diagnosis ; Colorectal Neoplasms/genetics ; Colorectal Neoplasms/therapy ; Gastrointestinal Hemorrhage ; Hamartoma ; Hamartoma Syndrome, Multiple/complications ; Hamartoma Syndrome, Multiple/diagnosis ; Hamartoma Syndrome, Multiple/genetics ; Humans ; Intestinal Polyposis/complications ; Intestinal Polyposis/congenital ; Intestinal Polyposis/diagnosis ; Intestinal Polyposis/genetics ; Intestinal Polyps ; Neoplastic Syndromes, Hereditary/diagnosis ; Neoplastic Syndromes, Hereditary/genetics ; Neoplastic Syndromes, Hereditary/therapy ; Peutz-Jeghers Syndrome/complications ; Peutz-Jeghers Syndrome/diagnosis ; Peutz-Jeghers Syndrome/genetics ; Telangiectasia, Hereditary Hemorrhagic
Language	English
Publishing date	2022-04-26
Publishing country	United States
Document type	Journal Article
ZDB-ID	80112-4
ISSN	1528-0012 ; 0016-5085
ISSN (online)	1528-0012
ISSN	0016-5085
DOI	10.1053/j.gastro.2022.02.021
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Article ; Online: Diagnosis and Management of Cancer Risk in the Gastrointestinal Hamartomatous Polyposis Syndromes: Recommendations From the US Multi-Society Task Force on Colorectal Cancer.

The American journal of gastroenterology

2022 Volume 117, Issue 6, Page(s) 846–864

Abstract	The gastrointestinal hamartomatous polyposis syndromes are rare, autosomal dominant disorders associated with an increased risk of benign and malignant intestinal and extraintestinal tumors. They include Peutz-Jeghers syndrome, juvenile polyposis syndrome, the PTEN hamartoma tumor syndrome (including Cowden's syndrome and Bannayan-Riley-Ruvalcaba syndrome), and hereditary mixed polyposis syndrome. Diagnoses are based on clinical criteria and, in some cases, confirmed by demonstrating the presence of a germline pathogenic variant. The best understood hamartomatous polyposis syndrome is Peutz-Jeghers syndrome, caused by germline pathogenic variants in the STK11 gene. The management is focused on prevention of bleeding and mechanical obstruction of the small bowel by polyps and surveillance of organs at increased risk for cancer. Juvenile polyposis syndrome is caused by a germline pathogenic variant in either the SMAD4 or BMPR1A genes, with differing clinical courses. Patients with SMAD4 pathogenic variants may have massive gastric polyposis, which can result in gastrointestinal bleeding and/or protein-losing gastropathy. Patients with SMAD4 mutations usually have the simultaneous occurrence of hereditary hemorrhagic telangiectasia (juvenile polyposis syndrome-hereditary hemorrhagic telangiectasia overlap syndrome) that can result in epistaxis, gastrointestinal bleeding from mucocutaneous telangiectasias, and arteriovenous malformations. Germline pathogenic variants in the PTEN gene cause overlapping clinical phenotypes (known as the PTEN hamartoma tumor syndromes), including Cowden's syndrome and related disorders that are associated with an increased risk of gastrointestinal and colonic polyposis, colon cancer, and other extraintestinal manifestations and cancers. Due to the relative rarity of the hamartomatous polyposis syndromes, recommendations for management are based on few studies. This US Multi-Society Task Force on Colorectal Cancer consensus statement summarizes the clinical features, assesses the current literature, and provides guidance for diagnosis, assessment, and management of patients with the hamartomatous polyposis syndromes, with a focus on endoscopic management.
MeSH term(s)	Colorectal Neoplasms/diagnosis ; Colorectal Neoplasms/genetics ; Colorectal Neoplasms/therapy ; Gastrointestinal Hemorrhage/complications ; Hamartoma/complications ; Hamartoma Syndrome, Multiple/complications ; Hamartoma Syndrome, Multiple/diagnosis ; Hamartoma Syndrome, Multiple/genetics ; Humans ; Intestinal Polyposis/complications ; Intestinal Polyposis/congenital ; Intestinal Polyposis/diagnosis ; Intestinal Polyposis/genetics ; Intestinal Polyps/complications ; Neoplastic Syndromes, Hereditary/diagnosis ; Neoplastic Syndromes, Hereditary/genetics ; Neoplastic Syndromes, Hereditary/therapy ; Peutz-Jeghers Syndrome/complications ; Peutz-Jeghers Syndrome/diagnosis ; Peutz-Jeghers Syndrome/genetics ; Telangiectasia, Hereditary Hemorrhagic/complications
Language	English
Publishing date	2022-04-26
Publishing country	United States
Document type	Journal Article
ZDB-ID	390122-1
ISSN	1572-0241 ; 0002-9270
ISSN (online)	1572-0241
ISSN	0002-9270
DOI	10.14309/ajg.0000000000001755
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Article ; Online: Lynch syndrome: a pediatric perspective.

Huang, Sherry C / Durno, Carol A / Erdman, Steven H

Journal of pediatric gastroenterology and nutrition

2014 Volume 58, Issue 2, Page(s) 144–152

Abstract: Colorectal cancer is a rare disease in the pediatric age group and, when present, suggests an underlying genetic predisposition. The most common hereditary colon cancer susceptibility condition, Lynch syndrome (LS), previously known as hereditary ... ...

Abstract	Colorectal cancer is a rare disease in the pediatric age group and, when present, suggests an underlying genetic predisposition. The most common hereditary colon cancer susceptibility condition, Lynch syndrome (LS), previously known as hereditary nonpolyposis colorectal cancer, is an autosomal dominant condition caused by a germline mutation in 1 of 4 DNA mismatch repair (MMR) genes: MLH1, MSH2, MSH6, or PMS2. The mutation-prone phenotype of this disorder is associated with gastrointestinal, endometrial, and other cancers and is now being identified in both symptomatic adolescents with malignancy as well in asymptomatic mutation carriers who are at risk for a spectrum of gastrointestinal and other cancers later in life. We review the DNA MMR system, our present understanding of LS in the pediatric population, and discuss the newly identified biallelic form of the disease known as constitutional mismatch repair deficiency syndrome. Both family history and tumor characteristics can help to identify patients who should undergo genetic testing for these cancer predisposition syndromes. Patients who carry either single allele (LS) or double allele (constitutional mismatch repair deficiency syndrome) mutations in the MMR genes benefit from cancer surveillance programs that target both the digestive and extraintestinal cancer risk of these diseases. Because spontaneous mutation in any one of the MMR genes is extremely rare, genetic counseling and testing are suggested for all at-risk family members.
MeSH term(s)	Alleles ; Colorectal Neoplasms/genetics ; Colorectal Neoplasms, Hereditary Nonpolyposis/genetics ; Colorectal Neoplasms, Hereditary Nonpolyposis/pathology ; DNA Mismatch Repair/genetics ; Germ-Line Mutation ; Humans ; Pediatrics
Language	English
Publishing date	2014-02
Publishing country	United States
Document type	Journal Article ; Research Support, Non-U.S. Gov't ; Review
ZDB-ID	603201-1
ISSN	1536-4801 ; 0277-2116
ISSN (online)	1536-4801
ISSN	0277-2116
DOI	10.1097/MPG.0000000000000179
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Article ; Online: Management of Peutz-Jeghers Syndrome in Children and Adolescents: A Position Paper From the ESPGHAN Polyposis Working Group.

Latchford, Andrew / Cohen, Shlomi / Auth, Marcus / Scaillon, Michele / Viala, Jerome / Daniels, Richard / Talbotec, Cecile / Attard, Thomas / Durno, Carol / Hyer, Warren

Journal of pediatric gastroenterology and nutrition

2019 Volume 68, Issue 3, Page(s) 442–452

Abstract: Peutz-Jeghers syndrome (PJS) is a well-described inherited syndrome, characterized by the development of gastrointestinal polyps, and characteristic mucocutaneous freckling. Development of small bowel intestinal polyps may lead to intussusception in ... ...

Abstract	Peutz-Jeghers syndrome (PJS) is a well-described inherited syndrome, characterized by the development of gastrointestinal polyps, and characteristic mucocutaneous freckling. Development of small bowel intestinal polyps may lead to intussusception in children may require emergency laparotomy with potential loss of bowel. Gastrointestinal polyps may lead to bleeding and anemia. This European Society for Paediatric Gastroenterology Hepatology and Nutrition position paper provides a guide for diagnosis, assessment, and management of PJS in children and adolescents and guidance on avoiding complications from PJS or from the endoscopic procedures performed on these patients.This is the first position paper regarding PJS published by European Society for Paediatric Gastroenterology Hepatology and Nutrition. Literature from PubMed, Medline, and Embase was reviewed and in the absence of evidence, recommendations reflect the opinion of pediatric and adult experts involved in the care of polyposis syndromes. Because many of the studies that form the basis for the recommendations were descriptive and/or retrospective in nature, some of the recommendations are based on expert opinion. This position paper will be helpful in the appropriate management and timing of procedures in children and adolescents with PJS.
MeSH term(s)	Child ; Child, Preschool ; Colonoscopy/standards ; Consensus ; Evidence-Based Medicine ; Genetic Testing/standards ; Humans ; Intestinal Polyps/diagnosis ; Intestinal Polyps/etiology ; Intestinal Polyps/surgery ; Intussusception/etiology ; Mass Screening/methods ; Mass Screening/standards ; Neoplasms/etiology ; Neoplasms/genetics ; Neoplasms/prevention & control ; Peutz-Jeghers Syndrome/complications ; Peutz-Jeghers Syndrome/diagnosis ; Peutz-Jeghers Syndrome/genetics ; Peutz-Jeghers Syndrome/therapy ; Risk Assessment
Language	English
Publishing date	2019-01-29
Publishing country	United States
Document type	Journal Article ; Review
ZDB-ID	603201-1
ISSN	1536-4801 ; 0277-2116
ISSN (online)	1536-4801
ISSN	0277-2116
DOI	10.1097/MPG.0000000000002248
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Article ; Online: Management of Juvenile Polyposis Syndrome in Children and Adolescents: A Position Paper From the ESPGHAN Polyposis Working Group.

Cohen, Shlomi / Hyer, Warren / Mas, Emmanuel / Auth, Marcus / Attard, Thomas M / Spalinger, Johannes / Latchford, Andrew / Durno, Carol

Journal of pediatric gastroenterology and nutrition

2019 Volume 68, Issue 3, Page(s) 453–462

Abstract: The European Society for Paediatric Gastroenterology, Hepatology and Nutrition (ESPGHAN) Polyposis Working Group developed recommendations to assist clinicians and health care providers with appropriate management of patients with juvenile polyposis. ... ...

Abstract	The European Society for Paediatric Gastroenterology, Hepatology and Nutrition (ESPGHAN) Polyposis Working Group developed recommendations to assist clinicians and health care providers with appropriate management of patients with juvenile polyposis. This is the first juvenile polyposis Position Paper published by ESPGHAN with invited experts. Many of the published studies were descriptive and/or retrospective in nature, consequently after incorporating a modified version of the GRADE system many of the recommendations are based on expert opinion. This ESPGHAN Position Paper provides a guide for diagnosis, assessment, and management of juvenile polyposis syndrome in children and adolescents, and will be helpful in the appropriate management and timing of procedures in children and adolescents. The formation of international collaboration and consortia is proposed to monitor patients prospectively to advance our understanding of juvenile polyposis conditions.
MeSH term(s)	Adolescent ; Child ; Colonoscopy/standards ; Consensus ; Evidence-Based Medicine ; Gastrointestinal Neoplasms/etiology ; Gastrointestinal Neoplasms/prevention & control ; Genetic Testing/methods ; Genetic Testing/standards ; Humans ; Intestinal Polyposis/complications ; Intestinal Polyposis/congenital ; Intestinal Polyposis/diagnosis ; Intestinal Polyposis/genetics ; Intestinal Polyposis/therapy ; Mutation, Missense ; Neoplastic Syndromes, Hereditary/complications ; Neoplastic Syndromes, Hereditary/diagnosis ; Neoplastic Syndromes, Hereditary/genetics ; Neoplastic Syndromes, Hereditary/therapy
Language	English
Publishing date	2019-01-29
Publishing country	United States
Document type	Journal Article ; Research Support, Non-U.S. Gov't ; Review
ZDB-ID	603201-1
ISSN	1536-4801 ; 0277-2116
ISSN (online)	1536-4801
ISSN	0277-2116
DOI	10.1097/MPG.0000000000002246
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Article ; Online: Unifying diagnosis for adenomatous polyps, café-au-lait macules, and a brain mass?

Durno, Carol / Pollett, Aaron / Gallinger, Steven

Gastroenterology

2013 Volume 145, Issue 5, Page(s) e3–4

MeSH term(s)	Adaptor Proteins, Signal Transducing/genetics ; Adenomatous Polyps/genetics ; Adolescent ; Astrocytoma/genetics ; Brain Neoplasms/genetics ; Cafe-au-Lait Spots/genetics ; Colonic Neoplasms/genetics ; Colorectal Neoplasms, Hereditary Nonpolyposis/diagnosis ; Colorectal Neoplasms, Hereditary Nonpolyposis/genetics ; Female ; Humans ; MutL Protein Homolog 1 ; Mutation, Missense/genetics ; Nuclear Proteins/genetics
Chemical Substances	Adaptor Proteins, Signal Transducing ; MLH1 protein, human ; Nuclear Proteins ; MutL Protein Homolog 1 (EC 3.6.1.3)
Language	English
Publishing date	2013-11
Publishing country	United States
Document type	Case Reports ; Journal Article
ZDB-ID	80112-4
ISSN	1528-0012 ; 0016-5085
ISSN (online)	1528-0012
ISSN	0016-5085
DOI	10.1053/j.gastro.2013.06.044
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Article ; Online: ACG Clinical Report and Recommendations on Transition of Care in Children and Adolescents With Hereditary Polyposis Syndromes.

Attard, Thomas M / Burke, Carol A / Hyer, Warren / Durno, Carol / Hurley, Karen E / Lawson, Caitlin E / Church, James / Cohen, Shlomi / Maddux, Michele H

The American journal of gastroenterology

2021 Volume 116, Issue 4, Page(s) 638–646

Abstract: Transition of care (TOC) in adolescents and young adults (AYAs) with chronic gastrointestinal disorders has received increased attention, especially in those with inflammatory bowel disease. AYAs with hereditary polyposis syndromes are a heterogeneous ... ...

Abstract	Transition of care (TOC) in adolescents and young adults (AYAs) with chronic gastrointestinal disorders has received increased attention, especially in those with inflammatory bowel disease. AYAs with hereditary polyposis syndromes are a heterogeneous group of patients with overlapping and complex medical needs. These patients are particularly vulnerable because of the risk of loss of continuity of care and subsequent poor disease outcomes. The Pediatric Committee of the American College of Gastroenterology commissioned a report with recommendations on TOC in AYAs with hereditary polyposis syndromes. This report aims at achieving best practice by both pediatric and adult gastroenterologists despite the paucity of published evidence in this population reflected in the included PRISMA report. Therefore, the group extrapolated findings from the literature related to other chronic gastrointestinal disorders, and a high degree of expert consensus was scored for all recommendations. The report addresses TOC through identifying shared domains followed by specific recommendations in disease management, including models of care, providers and patient and socioeconomic factors relevant to TOC. Areas of strong emphasis include the need for early planning, flexibility in the transition process to maintain continuity during major surgical procedures, patient and family psychological readiness, liaison among team members addressing transition, and changing insurance coverage in this population.
MeSH term(s)	Adenomatous Polyposis Coli/therapy ; Adolescent ; Child ; Consensus ; Disease Management ; Humans ; Patient Transfer/standards ; Societies, Medical ; Syndrome ; United States
Language	English
Publishing date	2021-05-13
Publishing country	United States
Document type	Journal Article ; Review
ZDB-ID	390122-1
ISSN	1572-0241 ; 0002-9270
ISSN (online)	1572-0241
ISSN	0002-9270
DOI	10.14309/ajg.0000000000001140
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