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Syndromic intestinal malformation

MedGen UID:
1842537
•Concept ID:
C5681760
•
Congenital Abnormality
Orphanet: ORPHA108969

Professional guidelines

PubMed

Small Intestinal Bacterial Overgrowth-Pathophysiology and Its Implications for Definition and Management.
Bushyhead D, Quigley EMM
Gastroenterology 2022 Sep;163(3):593-607. Epub 2022 Apr 7 doi: 10.1053/j.gastro.2022.04.002. PMID: 35398346
Proctalgia Syndromes: Update in Diagnosis and Management.
Carrington EV, Popa SL, Chiarioni G
Curr Gastroenterol Rep 2020 Jun 9;22(7):35. doi: 10.1007/s11894-020-00768-0. PMID: 32519087
Comparative pathophysiology and management of protein-losing enteropathy.
Craven MD, Washabau RJ
J Vet Intern Med 2019 Mar;33(2):383-402. Epub 2019 Feb 14 doi: 10.1111/jvim.15406. PMID: 30762910Free PMC Article

Recent clinical studies

Therapy

Role of zinc in health and disease.
Stiles LI, Ferrao K, Mehta KJ
Clin Exp Med 2024 Feb 17;24(1):38. doi: 10.1007/s10238-024-01302-6. PMID: 38367035Free PMC Article
An Overview of Short-Bowel Syndrome in Pediatric Patients: Focus on Clinical Management and Prevention of Complications.
Caporilli C, Giannì G, Grassi F, Esposito S
Nutrients 2023 May 17;15(10) doi: 10.3390/nu15102341. PMID: 37242224Free PMC Article
Proctalgia Syndromes: Update in Diagnosis and Management.
Carrington EV, Popa SL, Chiarioni G
Curr Gastroenterol Rep 2020 Jun 9;22(7):35. doi: 10.1007/s11894-020-00768-0. PMID: 32519087
The Immunological Basis of Dry Eye Disease and Current Topical Treatment Options.
Periman LM, Perez VL, Saban DR, Lin MC, Neri P
J Ocul Pharmacol Ther 2020 Apr;36(3):137-146. Epub 2020 Mar 12 doi: 10.1089/jop.2019.0060. PMID: 32175799Free PMC Article
Medical and surgical management of short bowel syndrome.
Billiauws L, Maggiori L, Joly F, Panis Y
J Visc Surg 2018 Sep;155(4):283-291. Epub 2018 Jul 21 doi: 10.1016/j.jviscsurg.2017.12.012. PMID: 30041905

Prognosis

An Overview of Short-Bowel Syndrome in Pediatric Patients: Focus on Clinical Management and Prevention of Complications.
Caporilli C, Giannì G, Grassi F, Esposito S
Nutrients 2023 May 17;15(10) doi: 10.3390/nu15102341. PMID: 37242224Free PMC Article
Shah-Waardenburg syndrome.
Mahmoudi A, Rami M, Khattala K, Elmadi A, Afifi MA, Youssef B
Pan Afr Med J 2013;14:60. Epub 2013 Feb 12 doi: 10.11604/pamj.2013.14.60.1543. PMID: 23565307Free PMC Article
Laryngo-tracheo-oesophageal clefts.
Leboulanger N, Garabédian EN
Orphanet J Rare Dis 2011 Dec 7;6:81. doi: 10.1186/1750-1172-6-81. PMID: 22151899Free PMC Article
VACTERL/VATER Association.
Solomon BD
Orphanet J Rare Dis 2011 Aug 16;6:56. doi: 10.1186/1750-1172-6-56. PMID: 21846383Free PMC Article
Small intestinal bacterial overgrowth syndrome.
Bures J, Cyrany J, Kohoutova D, Förstl M, Rejchrt S, Kvetina J, Vorisek V, Kopacova M
World J Gastroenterol 2010 Jun 28;16(24):2978-90. doi: 10.3748/wjg.v16.i24.2978. PMID: 20572300Free PMC Article

Clinical prediction guides

SOX10: 20 years of phenotypic plurality and current understanding of its developmental function.
Pingault V, Zerad L, Bertani-Torres W, Bondurand N
J Med Genet 2022 Feb;59(2):105-114. Epub 2021 Oct 19 doi: 10.1136/jmedgenet-2021-108105. PMID: 34667088Free PMC Article
Partners in Leaky Gut Syndrome: Intestinal Dysbiosis and Autoimmunity.
Kinashi Y, Hase K
Front Immunol 2021;12:673708. Epub 2021 Apr 22 doi: 10.3389/fimmu.2021.673708. PMID: 33968085Free PMC Article
Currarino syndrome: a comprehensive genetic review of a rare congenital disorder.
Dworschak GC, Reutter HM, Ludwig M
Orphanet J Rare Dis 2021 Apr 9;16(1):167. doi: 10.1186/s13023-021-01799-0. PMID: 33836786Free PMC Article
Diagnostic criteria for constitutional mismatch repair deficiency syndrome: suggestions of the European consortium 'care for CMMRD' (C4CMMRD).
Wimmer K, Kratz CP, Vasen HF, Caron O, Colas C, Entz-Werle N, Gerdes AM, Goldberg Y, Ilencikova D, Muleris M, Duval A, Lavoine N, Ruiz-Ponte C, Slavc I, Burkhardt B, Brugieres L; EU-Consortium Care for CMMRD (C4CMMRD)
J Med Genet 2014 Jun;51(6):355-65. Epub 2014 Apr 15 doi: 10.1136/jmedgenet-2014-102284. PMID: 24737826
Syndromic diarrhea/Tricho-hepato-enteric syndrome.
Fabre A, Martinez-Vinson C, Goulet O, Badens C
Orphanet J Rare Dis 2013 Jan 9;8:5. doi: 10.1186/1750-1172-8-5. PMID: 23302111Free PMC Article

Recent systematic reviews

Relationship between volume and outcome for gastroschisis: A systematic review.
Morche J, Mathes T, Jacobs A, Wessel L, Neugebauer EAM, Pieper D
J Pediatr Surg 2022 Dec;57(12):763-785. Epub 2022 Mar 28 doi: 10.1016/j.jpedsurg.2022.03.022. PMID: 35459541
Concurrent Hirschsprung's disease and anorectal malformation: a systematic review.
Nakamura H, Puri P
Pediatr Surg Int 2020 Jan;36(1):21-24. Epub 2019 Sep 24 doi: 10.1007/s00383-019-04580-4. PMID: 31552492
Endoscopic findings and colonic perforation in microscopic colitis: A systematic review.
Marlicz W, Skonieczna-Żydecka K, Yung DE, Loniewski I, Koulaouzidis A
Dig Liver Dis 2017 Oct;49(10):1073-1085. Epub 2017 Aug 9 doi: 10.1016/j.dld.2017.07.015. PMID: 28847471
Fetal megacystis: A systematic review.
Taghavi K, Sharpe C, Stringer MD
J Pediatr Urol 2017 Feb;13(1):7-15. Epub 2016 Oct 8 doi: 10.1016/j.jpurol.2016.09.003. PMID: 27889224
Association of Hirschsprung's disease and anorectal malformation: a systematic review.
Hofmann AD, Puri P
Pediatr Surg Int 2013 Sep;29(9):913-7. doi: 10.1007/s00383-013-3352-2. PMID: 23948812

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