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Abnormal large intestine morphology

MedGen UID:
871234
•Concept ID:
C4025715
•
Anatomical Abnormality
Synonym: Abnormality of the large intestine
 
HPO: HP:0002250

Definition

Any abnormality of the large intestine. [from HPO]

Conditions with this feature

Appendicitis, proneness to
MedGen UID:
400099
•Concept ID:
C1862632
•
Finding
See: Condition Record
Appendicitis, proneness to

Professional guidelines

PubMed

Advances in the Management of the Neonate Born with an Anorectal Malformation.
King SK, Levitt MA
Clin Perinatol 2022 Dec;49(4):965-979. Epub 2022 Oct 9 doi: 10.1016/j.clp.2022.08.002. PMID: 36328611
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
Microscopic colitis: pathophysiology and clinical management.
Miehlke S, Verhaegh B, Tontini GE, Madisch A, Langner C, Münch A
Lancet Gastroenterol Hepatol 2019 Apr;4(4):305-314. doi: 10.1016/S2468-1253(19)30048-2. PMID: 30860066

Recent clinical studies

Etiology

Embryology and anatomy of anorectal malformations.
Miyake Y, Lane GJ, Yamataka A
Semin Pediatr Surg 2022 Dec;31(6):151226. Epub 2022 Nov 16 doi: 10.1016/j.sempedsurg.2022.151226. PMID: 36417783
The etiology of VACTERL association: Current knowledge and hypotheses.
Solomon BD
Am J Med Genet C Semin Med Genet 2018 Dec;178(4):440-446. doi: 10.1002/ajmg.c.31664. PMID: 30580478
Anorectal malformation: the etiological factors.
Wang C, Li L, Cheng W
Pediatr Surg Int 2015 Sep;31(9):795-804. Epub 2015 Apr 22 doi: 10.1007/s00383-015-3685-0. PMID: 25899933
Genetic and nongenetic etiology of nonsyndromic anorectal malformations: a systematic review.
Wijers CH, van Rooij IA, Marcelis CL, Brunner HG, de Blaauw I, Roeleveld N
Birth Defects Res C Embryo Today 2014 Dec;102(4):382-400. doi: 10.1002/bdrc.21068. PMID: 25546370
Embryology of anorectal malformations.
Kluth D
Semin Pediatr Surg 2010 Aug;19(3):201-8. doi: 10.1053/j.sempedsurg.2010.03.005. PMID: 20610193

Diagnosis

Currarino triad.
Baalaan KP, Gurunathan N
Pan Afr Med J 2022;41:143. Epub 2022 Feb 17 doi: 10.11604/pamj.2022.41.143.33419. PMID: 35519164Free PMC Article
Diagnosis of Hirschsprung Disease.
Ambartsumyan L, Smith C, Kapur RP
Pediatr Dev Pathol 2020 Jan-Feb;23(1):8-22. Epub 2019 Dec 2 doi: 10.1177/1093526619892351. PMID: 31791203
Anorectal malformations.
Herman RS, Teitelbaum DH
Clin Perinatol 2012 Jun;39(2):403-22. doi: 10.1016/j.clp.2012.04.001. PMID: 22682388
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
Anorectal malformations.
Levitt MA, Peña A
Orphanet J Rare Dis 2007 Jul 26;2:33. doi: 10.1186/1750-1172-2-33. PMID: 17651510Free PMC Article

Therapy

Glycosides as Potential Medicinal Components for Ulcerative Colitis: A Review.
Niu Y, Zhang J, Shi D, Zang W, Niu J
Molecules 2023 Jul 4;28(13) doi: 10.3390/molecules28135210. PMID: 37446872Free PMC Article
Is Pouch Specific to Colon and Not Ileum?
Gupta S, Tiwari P, Gupta N, Nunia V, Saxena AK, Simlot A, Kothari SL, Suravajhala P, Medicherla KM, Mathur P
Curr Pediatr Rev 2019;15(4):259-264. doi: 10.2174/1573396315666190829155930. PMID: 31465285Free PMC Article
Chronic constipation.
Camilleri M, Ford AC, Mawe GM, Dinning PG, Rao SS, Chey WD, Simrén M, Lembo A, Young-Fadok TM, Chang L
Nat Rev Dis Primers 2017 Dec 14;3:17095. doi: 10.1038/nrdp.2017.95. PMID: 29239347
The separation procedure.
Kiely EM, Spitz L
Semin Pediatr Surg 2015 Oct;24(5):231-6. Epub 2015 Jun 26 doi: 10.1053/j.sempedsurg.2015.06.007. PMID: 26382263
Mast cell sarcoma: clinical management.
Weiler CR, Butterfield J
Immunol Allergy Clin North Am 2014 May;34(2):423-32. Epub 2014 Mar 13 doi: 10.1016/j.iac.2014.01.004. PMID: 24745684

Prognosis

Forward-Perspectives in Pediatric Pathology: Hirschsprung Disease.
Rogers BB
Pediatr Dev Pathol 2020 Jan-Feb;23(1):3. Epub 2019 Dec 10 doi: 10.1177/1093526619893138. PMID: 31822165
Diagnosis of Hirschsprung Disease.
Ambartsumyan L, Smith C, Kapur RP
Pediatr Dev Pathol 2020 Jan-Feb;23(1):8-22. Epub 2019 Dec 2 doi: 10.1177/1093526619892351. PMID: 31791203
Are We Underdiagnosing Hirschsprung Disease?
Kapur RP, Ambartsumyan L, Smith C
Pediatr Dev Pathol 2020 Jan-Feb;23(1):60-71. Epub 2019 Nov 20 doi: 10.1177/1093526619889434. PMID: 31747832
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
Anorectal malformations.
Levitt MA, Peña A
Orphanet J Rare Dis 2007 Jul 26;2:33. doi: 10.1186/1750-1172-2-33. PMID: 17651510Free PMC Article

Clinical prediction guides

Forward-Perspectives in Pediatric Pathology: Hirschsprung Disease.
Rogers BB
Pediatr Dev Pathol 2020 Jan-Feb;23(1):3. Epub 2019 Dec 10 doi: 10.1177/1093526619893138. PMID: 31822165
Diagnosis of Hirschsprung Disease.
Ambartsumyan L, Smith C, Kapur RP
Pediatr Dev Pathol 2020 Jan-Feb;23(1):8-22. Epub 2019 Dec 2 doi: 10.1177/1093526619892351. PMID: 31791203
Are We Underdiagnosing Hirschsprung Disease?
Kapur RP, Ambartsumyan L, Smith C
Pediatr Dev Pathol 2020 Jan-Feb;23(1):60-71. Epub 2019 Nov 20 doi: 10.1177/1093526619889434. PMID: 31747832
Anorectal malformations.
Levitt MA, Peña A
Orphanet J Rare Dis 2007 Jul 26;2:33. doi: 10.1186/1750-1172-2-33. PMID: 17651510Free PMC Article
Defecography.
Yang XM, Partanen K, Farin P, Soimakallio S
Acta Radiol 1995 Sep;36(5):460-8. PMID: 7640087

Recent systematic reviews

Significance of MRI/Transrectal Ultrasound Fusion Three-Dimensional Model-Guided, Targeted Biopsy Based on Transrectal Ultrasound-Guided Systematic Biopsy in Prostate Cancer Detection: A Systematic Review and Meta-Analysis.
Tang Y, Liu Z, Tang L, Zhang R, Lu Y, Liang J, Zou Z, Zhou C, Wang Y
Urol Int 2018;100(1):57-65. Epub 2017 Oct 30 doi: 10.1159/000484144. PMID: 29084410
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
Laparoscopically Assisted Anorectal Pull-Through versus Posterior Sagittal Anorectoplasty for High and Intermediate Anorectal Malformations: A Systematic Review and Meta-Analysis.
Han Y, Xia Z, Guo S, Yu X, Li Z
PLoS One 2017;12(1):e0170421. Epub 2017 Jan 18 doi: 10.1371/journal.pone.0170421. PMID: 28099464Free PMC Article
Accuracy of prenatal ultrasound in detecting jejunal and ileal atresia: systematic review and meta-analysis.
Virgone C, D'antonio F, Khalil A, Jonh R, Manzoli L, Giuliani S
Ultrasound Obstet Gynecol 2015 May;45(5):523-9. doi: 10.1002/uog.14651. PMID: 25157626
Genetic and nongenetic etiology of nonsyndromic anorectal malformations: a systematic review.
Wijers CH, van Rooij IA, Marcelis CL, Brunner HG, de Blaauw I, Roeleveld N
Birth Defects Res C Embryo Today 2014 Dec;102(4):382-400. doi: 10.1002/bdrc.21068. PMID: 25546370

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