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Quoted phrase not found in phrase index: "Megacystis-microcolon-intestinal hypoperistalsis syndrome 3"
Page 1
Exploring the complexities of megacystis-microcolon-intestinal hypoperistalsis syndrome: insights from genetic studies.
Devavarapu PKV, Uppaluri KR, Nikhade VA, Palasamudram K, Sri Manjari K. Devavarapu PKV, et al. Clin J Gastroenterol. 2024 Jun;17(3):383-395. doi: 10.1007/s12328-024-01934-x. Epub 2024 Mar 9. Clin J Gastroenterol. 2024. PMID: 38461165 Review.
Megacystis microcolon intestinal hypoperistalsis syndrome (MMIHS) is an uncommon genetic disorder inherited in an autosomal recessive pattern that affects the muscles that line the bladder and intestines. ...Understanding the genetic underpinnin …
Megacystis microcolon intestinal hypoperistalsis syndrome (MMIHS) is an uncommon genetic disorder inherit …
Megacystis microcolon intestinal hypoperistalsis syndrome: A report of a nationwide survey in Japan.
Soh H, Fukuzawa M, Kubota A, Kawahara H, Ueno T, Taguchi T. Soh H, et al. J Pediatr Surg. 2015 Dec;50(12):2048-50. doi: 10.1016/j.jpedsurg.2015.08.026. Epub 2015 Aug 28. J Pediatr Surg. 2015. PMID: 26413901
BACKGROUND: Megacystis microcolon intestinal hypoperistalsis syndrome (MMIHS) is a rare condition with a poor outcome. ...
BACKGROUND: Megacystis microcolon intestinal hypoperistalsis syndrome (MMIHS) is a rare condition with a …
Consanguinity and its relevance for the incidence of megacystis microcolon intestinal hypoperistalsis syndrome (MMIHS): systematic review.
Nakamura H, O'Donnell AM, Puri P. Nakamura H, et al. Pediatr Surg Int. 2019 Feb;35(2):175-180. doi: 10.1007/s00383-018-4390-6. Epub 2018 Nov 1. Pediatr Surg Int. 2019. PMID: 30386895
BACKGROUND/PURPOSE: Megacystis microcolon intestinal hypoperistalsis syndrome (MMIHS) is a rare congenital and generally fatal cause of functional intestinal obstruction in the newborn. ...
BACKGROUND/PURPOSE: Megacystis microcolon intestinal hypoperistalsis syndrome (MMIHS) is a rare congenita …
Multivisceral transplantation for megacystis microcolon intestinal hypoperistalsis syndrome.
Masetti M, Rodriguez MM, Thompson JF, Pinna AD, Kato T, Romaguera RL, Nery JR, DeFaria W, Khan MF, Verzaro R, Ruiz P, Tzakis AG. Masetti M, et al. Transplantation. 1999 Jul 27;68(2):228-32. doi: 10.1097/00007890-199907270-00011. Transplantation. 1999. PMID: 10440392
BACKGROUND: Megacystis microcolon intestinal hypoperistalsis syndrome (MMIHS) is a rare autosomal recessive disorder causing a functional neonatal bowel obstruction. Its etiopathogenesis is not fully understood. The prognosis is poor in t …
BACKGROUND: Megacystis microcolon intestinal hypoperistalsis syndrome (MMIHS) is a rare autosomal recessi …
ACTG2 variants impair actin polymerization in sporadic Megacystis Microcolon Intestinal Hypoperistalsis Syndrome.
Halim D, Hofstra RM, Signorile L, Verdijk RM, van der Werf CS, Sribudiani Y, Brouwer RW, van IJcken WF, Dahl N, Verheij JB, Baumann C, Kerner J, van Bever Y, Galjart N, Wijnen RM, Tibboel D, Burns AJ, Muller F, Brooks AS, Alves MM. Halim D, et al. Hum Mol Genet. 2016 Feb 1;25(3):571-83. doi: 10.1093/hmg/ddv497. Epub 2015 Dec 8. Hum Mol Genet. 2016. PMID: 26647307
Megacystis Microcolon Intestinal Hypoperistalsis Syndrome (MMIHS) is a rare congenital disorder, in which heterozygous missense variants in the Enteric Smooth Muscle actin gamma-2 (ACTG2) gene have been recently identified. ...No histopathologic …
Megacystis Microcolon Intestinal Hypoperistalsis Syndrome (MMIHS) is a rare congenital disorder, in which …
Placental Fetal Thrombotic Vasculopathy Occurring in Association with Megacystis-microcolon-intestinal Hypoperistalsis Syndrome: A Case Report.
Vélez-Pérez A, Younes P, Tatevian N. Vélez-Pérez A, et al. Ann Clin Lab Sci. 2017 May;47(3):357-361. Ann Clin Lab Sci. 2017. PMID: 28667041
Megacystis-microcolon-intestinal hypoperistalsis syndrome (MMIHS) is a rare disease of functional obstruction affecting the bladder and intestines, characterized by a markedly distended bladder, microcolon, and decreased or absent intestinal per …
Megacystis-microcolon-intestinal hypoperistalsis syndrome (MMIHS) is a rare disease of functional obstruc …
Fetal megacystis: A systematic review.
Taghavi K, Sharpe C, Stringer MD. Taghavi K, et al. J Pediatr Urol. 2017 Feb;13(1):7-15. doi: 10.1016/j.jpurol.2016.09.003. Epub 2016 Oct 8. J Pediatr Urol. 2017. PMID: 27889224
The most common underlying diagnosis is posterior urethral valves (57%), followed by urethral atresia/stenosis (7%), prune belly syndrome (4%), megacystis-microcolon-intestinal-hypoperistalsis syndrome (MMIHS) (1%), and cloacal anomalies (0.7%). …
The most common underlying diagnosis is posterior urethral valves (57%), followed by urethral atresia/stenosis (7%), prune belly syndrome (4 …
Prenatal diagnosis of megacystis-microcolon-intestinal hypoperistalsis syndrome: contribution of amniotic fluid digestive enzyme assay and fetal urinalysis.
Muller F, Dreux S, Vaast P, Dumez Y, Nisand I, Ville Y, Boulot P, Guibourdenche J, Althusser M, Blin G, Gautier E, Lespinard C, Perrotin F, Poulain P, Sarramon MF; Study Group of the French Fetal Medicine Society. Muller F, et al. Prenat Diagn. 2005 Mar;25(3):203-9. doi: 10.1002/pd.1088. Prenat Diagn. 2005. PMID: 15791664
OBJECTIVES: Megacystis-microcolon-intestinal hypoperistalsis syndrome (MMIHS) is a usually lethal disease during the first year of life. ...The value of amniotic fluid digestive enzyme assay and fetal urine biochemistry in the prediction …
OBJECTIVES: Megacystis-microcolon-intestinal hypoperistalsis syndrome (MMIHS) is a usually lethal disease …
The Diverse Phenotype of Intestinal Dysmotility Secondary to ACTG2-related Disorders.
Sandy NS, Huysentruyt K, Mulder DJ, Warner N, Chong K, Morel C, AlQahtani S, Wales PW, Martin MG, Muise AM, Avitzur Y. Sandy NS, et al. J Pediatr Gastroenterol Nutr. 2022 May 1;74(5):575-581. doi: 10.1097/MPG.0000000000003400. J Pediatr Gastroenterol Nutr. 2022. PMID: 35149643 Free PMC article.
Girls had a higher rate of microcolon (P = 0.009), PN dependency (P = 0.003), and death/transplant (P = 0.029) compared with boys, and early disease onset (<2 years of age) was associated with megacystis-microcolon-intestinal hypoperistalsis synd …
Girls had a higher rate of microcolon (P = 0.009), PN dependency (P = 0.003), and death/transplant (P = 0.029) compared with boys, and early …
Perinatal outcome and prognostic factors of fetal megacystis diagnosed at 11-14 week's gestation.
Kao C, Lauzon J, Brundler MA, Tang S, Somerset D. Kao C, et al. Prenat Diagn. 2021 Feb;41(3):308-315. doi: 10.1002/pd.5868. Epub 2020 Nov 30. Prenat Diagn. 2021. PMID: 33219696
OBJECTIVES: To evaluate aneuploidy rate, prognostic factors, and perinatal outcomes following a diagnosis of fetal megacystis at 11-14 week's gestation. ...The two cases where fetal megacystis persisted had major postnatal diagnoses: cloacal malformation and megacystis …
OBJECTIVES: To evaluate aneuploidy rate, prognostic factors, and perinatal outcomes following a diagnosis of fetal megacystis at 11-1 …
19 results