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Abnormal intestinal smooth muscle morphology

MedGen UID:
1370536
•Concept ID:
C4476864
•
Anatomical Abnormality
Synonym: Abnormality of intestinal smooth muscle morphology
 
HPO: HP:0030935

Definition

A structural anomaly of the nonstriated, involuntary muscle tissue of the intestine. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVAbnormal intestinal smooth muscle morphology

Professional guidelines

PubMed

Diagnostic Criteria of Pediatric Intestinal Myopathies.
Lombardi L, Bruder E, Pio L, Nozza P, Thai E, Lerone M, Del Rossi C, Mattioli G, Silini EM, Paraboschi I, Martucciello G
J Pediatr Gastroenterol Nutr 2018 Mar;66(3):383-386. doi: 10.1097/MPG.0000000000001727. PMID: 28837505
Solitary rectal ulcer syndrome: clinical features, pathophysiology, diagnosis and treatment strategies.
Zhu QC, Shen RR, Qin HL, Wang Y
World J Gastroenterol 2014 Jan 21;20(3):738-44. doi: 10.3748/wjg.v20.i3.738. PMID: 24574747Free PMC Article
Classification and diagnostic criteria of variants of Hirschsprung's disease.
Friedmacher F, Puri P
Pediatr Surg Int 2013 Sep;29(9):855-72. doi: 10.1007/s00383-013-3351-3. PMID: 23943250

Recent clinical studies

Etiology

Classification and diagnostic criteria of variants of Hirschsprung's disease.
Friedmacher F, Puri P
Pediatr Surg Int 2013 Sep;29(9):855-72. doi: 10.1007/s00383-013-3351-3. PMID: 23943250
Abnormalities of neuromuscular anatomy in diverticular disease.
Böttner M, Wedel T
Dig Dis 2012;30(1):19-23. Epub 2012 May 3 doi: 10.1159/000335699. PMID: 22572680
Variant Hirschsprung's disease.
Puri P, Rolle U
Semin Pediatr Surg 2004 Nov;13(4):293-9. doi: 10.1053/j.sempedsurg.2004.10.017. PMID: 15660323
Role of Interstitial Cells of Cajal and their relationship with the enteric nervous system.
Vanderwinden JM
Eur J Morphol 1999 Oct;37(4-5):250-6. doi: 10.1076/ejom.37.4.250.4728. PMID: 10477470
Variant Hirschsprung's disease.
Puri P
J Pediatr Surg 1997 Feb;32(2):149-57. doi: 10.1016/s0022-3468(97)90170-6. PMID: 9044113

Diagnosis

Histopathological, Ultrastructural, and Immunohistochemical Findings in MYH11-Variant Visceral Myopathy.
Kapur RP
Pediatr Dev Pathol 2023 Jan-Feb;26(1):39-51. Epub 2022 Dec 26 doi: 10.1177/10935266221128133. PMID: 36571289
Diagnostic Criteria of Pediatric Intestinal Myopathies.
Lombardi L, Bruder E, Pio L, Nozza P, Thai E, Lerone M, Del Rossi C, Mattioli G, Silini EM, Paraboschi I, Martucciello G
J Pediatr Gastroenterol Nutr 2018 Mar;66(3):383-386. doi: 10.1097/MPG.0000000000001727. PMID: 28837505
Gastrointestinal system.
Cheng LK, O'Grady G, Du P, Egbuji JU, Windsor JA, Pullan AJ
Wiley Interdiscip Rev Syst Biol Med 2010 Jan-Feb;2(1):65-79. doi: 10.1002/wsbm.19. PMID: 20836011Free PMC Article
Variant Hirschsprung's disease.
Puri P, Rolle U
Semin Pediatr Surg 2004 Nov;13(4):293-9. doi: 10.1053/j.sempedsurg.2004.10.017. PMID: 15660323
Variant Hirschsprung's disease.
Puri P
J Pediatr Surg 1997 Feb;32(2):149-57. doi: 10.1016/s0022-3468(97)90170-6. PMID: 9044113

Therapy

Molecular signature of active fibrogenesis prevails in biliary atresia after successful portoenterostomy.
Kerola A, Lampela H, Lohi J, Heikkilä P, Mutanen A, Jalanko H, Pakarinen MP
Surgery 2017 Sep;162(3):548-556. Epub 2017 Jun 24 doi: 10.1016/j.surg.2017.04.013. PMID: 28655415
In Vitro Evaluation of Carbachol and Endothelin on Contractility of Colonic Smooth Muscle in Hirschsprung’s Disease.
Tripathi BK, Gangopadhyay AN, Sharma SP, Kar AG, Mandal MB
Indian J Physiol Pharmacol 2016 Jan-Mar;60(1):22-9. PMID: 29953180
Abnormal layering of muscularis propria as a cause of chronic intestinal pseudo-obstruction: A case report and literature review.
Angkathunyakul N, Treepongkaruna S, Molagool S, Ruangwattanapaisarn N
World J Gastroenterol 2015 Jun 14;21(22):7059-64. doi: 10.3748/wjg.v21.i22.7059. PMID: 26078585Free PMC Article
Airway modeling and remodeling in the pathogenesis of asthma.
Warner SM, Knight DA
Curr Opin Allergy Clin Immunol 2008 Feb;8(1):44-8. doi: 10.1097/ACI.0b013e3282f3b5cb. PMID: 18188017
The effects of steroids upon the gastrointestinal tract.
Black HE
Toxicol Pathol 1988;16(2):213-22. doi: 10.1177/019262338801600214. PMID: 3055231

Prognosis

Cystic Fibrosis and the Nervous System.
Reznikov LR
Chest 2017 May;151(5):1147-1155. Epub 2016 Nov 19 doi: 10.1016/j.chest.2016.11.009. PMID: 27876591Free PMC Article
Abnormalities of neuromuscular anatomy in diverticular disease.
Böttner M, Wedel T
Dig Dis 2012;30(1):19-23. Epub 2012 May 3 doi: 10.1159/000335699. PMID: 22572680
Normal oxidative phosphorylation in intestinal smooth muscle of childhood chronic intestinal pseudo-obstruction.
Galmiche L, Jaubert F, Sauvat F, Sarnacki S, Goulet O, Assouline Z, Vedrenne V, Lebre AS, Boddaert N, Brousse N, Chrétien D, Munnich A, Rötig A
Neurogastroenterol Motil 2011 Jan;23(1):24-9, e1. Epub 2010 Sep 14 doi: 10.1111/j.1365-2982.2010.01595.x. PMID: 20879992
Variant Hirschsprung's disease.
Puri P, Rolle U
Semin Pediatr Surg 2004 Nov;13(4):293-9. doi: 10.1053/j.sempedsurg.2004.10.017. PMID: 15660323
Pathology of colorectal cancer.
Ponz de Leon M, Di Gregorio C
Dig Liver Dis 2001 May;33(4):372-88. doi: 10.1016/s1590-8658(01)80095-5. PMID: 11432519

Clinical prediction guides

Prenatal and postnatal peculiarities and consequences of intestinal loop patency disorder with expansive giant cystic abdominal mass in a preterm newborn.
Brucknerova I, Dobos D, Bibza J, Babala J, Brucknerova J
Bratisl Lek Listy 2023;124(7):493-497. doi: 10.4149/BLL_2023_075. PMID: 37218476
The long Filamin-A isoform is required for intestinal development and motility: implications for chronic intestinal pseudo-obstruction.
Zada A, Zhao Y, Halim D, Windster J, van der Linde HC, Glodener J, Overkleeft S, de Graaf BM, Verdijk RM, Brooks AS, Shepherd I, Gao Y, Burns AJ, Hofstra RMW, Alves MM
Hum Mol Genet 2023 Jan 1;32(1):151-160. doi: 10.1093/hmg/ddac199. PMID: 35981053Free PMC Article
Cystic Fibrosis and the Nervous System.
Reznikov LR
Chest 2017 May;151(5):1147-1155. Epub 2016 Nov 19 doi: 10.1016/j.chest.2016.11.009. PMID: 27876591Free PMC Article
Role of Interstitial Cells of Cajal and their relationship with the enteric nervous system.
Vanderwinden JM
Eur J Morphol 1999 Oct;37(4-5):250-6. doi: 10.1076/ejom.37.4.250.4728. PMID: 10477470
The effects of steroids upon the gastrointestinal tract.
Black HE
Toxicol Pathol 1988;16(2):213-22. doi: 10.1177/019262338801600214. PMID: 3055231

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