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Quoted phrase not found in phrase index: "Megacystis-microcolon-intestinal hypoperistalsis syndrome 4"
Page 1
Megacystis Microcolon Intestinal Hypoperistalsis Syndrome: A Case Series With Long-term Follow-up and Prolonged Survival.
Prathapan KM, King DE, Raghu VK, Ackerman K, Presel T, Yaworski JA, Ganoza A, Bond G, Sevilla WMA, Rudolph JA, Alissa F. Prathapan KM, et al. J Pediatr Gastroenterol Nutr. 2021 Apr 1;72(4):e81-e85. doi: 10.1097/MPG.0000000000003008. J Pediatr Gastroenterol Nutr. 2021. PMID: 33264186 Free PMC article.
OBJECTIVES: Describe clinical characteristics, management, and outcome in a cohort of megacystis microcolon intestinal hypoperistalsis syndrome (MMIHS) patients. ...Eight had genetic testing (5, ACTG2; 2, MYH11; 1, MYL9). Almost all patients had …
OBJECTIVES: Describe clinical characteristics, management, and outcome in a cohort of megacystis microcolon intestinal …
Compound heterozygous loss of function variants in MYL9 in a child with megacystis-microcolon-intestinal hypoperistalsis syndrome.
Kandler JL, Sklirou E, Woerner A, Walsh L, Cox E, Xue Y. Kandler JL, et al. Mol Genet Genomic Med. 2020 Nov;8(11):e1516. doi: 10.1002/mgg3.1516. Epub 2020 Oct 8. Mol Genet Genomic Med. 2020. PMID: 33031641 Free PMC article.
Megacystis-microcolon-intestinal hypoperistalsis syndrome (MMIHS), or "visceral myopathy," is a severe early onset disorder characterized by impaired muscle contractility in the bladder and intestines. ...We identified two heterozygous loss of f …
Megacystis-microcolon-intestinal hypoperistalsis syndrome (MMIHS), or "visceral myopathy," is a severe ea …
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.
Twenty-eight unique variants were analyzed, all exceedingly rare, and 27 predicted to be highly damaging. The median Combined Annotation Dependent Depletion (CADD) score was 29.2 (Interquartile range 26.3-29.4). ...Girls had a higher rate of microcolon (P = 0 …
Twenty-eight unique variants were analyzed, all exceedingly rare, and 27 predicted to be highly damaging. The median Combined Annotat …
Fetal megacystis: differential diagnosis.
Osborne NG, Bonilla-Musoles F, Machado LE, Raga F, Bonilla F Jr, Ruiz F, Pérez Guardia CM, Ahluwalia B. Osborne NG, et al. J Ultrasound Med. 2011 Jun;30(6):833-41. doi: 10.7863/jum.2011.30.6.833. J Ultrasound Med. 2011. PMID: 21632999
The purpose of our retrospective observational series was to determine whether the sonographic characteristics of fetal megacystic bladders can be used to reliably establish the most likely diagnosis in fetuses with this condition. ...One of the female fetuses had a diagno …
The purpose of our retrospective observational series was to determine whether the sonographic characteristics of fetal megacystic bl …
Z-scores of fetal bladder size for antenatal differential diagnosis between posterior urethral valves and urethral atresia.
Fontanella F, Groen H, Duin LK, Suresh S, Bilardo CM. Fontanella F, et al. Ultrasound Obstet Gynecol. 2021 Dec;58(6):875-881. doi: 10.1002/uog.23647. Ultrasound Obstet Gynecol. 2021. PMID: 33864313 Free PMC article.
A total of 1238 urinary bladder measurements were obtained. Z-scores, derived from the fetal nomograms, were calculated in 106 cases with suspected lower urinary tract obstruction (LUTO), including 76 (72%) cases with PUV, 22 (21%) cases with UA, four (4%) cases wit …
A total of 1238 urinary bladder measurements were obtained. Z-scores, derived from the fetal nomograms, were calculated in 106 cases …
Absent smooth muscle actin immunoreactivity of the small bowel muscularis propria circular layer in association with chromosome 15q11 deletion in megacystis-microcolon-intestinal hypoperistalsis syndrome.
Szigeti R, Chumpitazi BP, Finegold MJ, Ranganathan S, Craigen WJ, Carter BA, Tatevian N. Szigeti R, et al. Pediatr Dev Pathol. 2010 Jul-Aug;13(4):322-5. doi: 10.2350/09-07-0678-CR.1. Pediatr Dev Pathol. 2010. PMID: 20028211
Megacystis-microcolon-intestinal hypoperistalsis syndrome (MMIHS; OMIM%249210) is a rare and severe form of congenital intestinal and urinary dysfunction and malformation. Histologic studies suggest that the predominant intestinal manifestation …
Megacystis-microcolon-intestinal hypoperistalsis syndrome (MMIHS; OMIM%249210) is a rare and severe form …
MRI of fetal GI tract abnormalities.
Veyrac C, Couture A, Saguintaah M, Baud C. Veyrac C, et al. Abdom Imaging. 2004 Jul-Aug;29(4):411-20. doi: 10.1007/s00261-003-0147-2. Epub 2004 May 12. Abdom Imaging. 2004. PMID: 15136891
The MR aspect of intestinal atresia (duodenal atresia, one case; small bowel atresia, nine cases) included dilatation of the bowel loops, accurate assessment of the normal bowel distal to the atresia (except in the patient with multiple atresia and apple-peel syndrome), and micro …
The MR aspect of intestinal atresia (duodenal atresia, one case; small bowel atresia, nine cases) included dilatation of the bowel loops, ac …
Prenatal renal parenchymal area as a predictor of early end-stage renal disease in children with vesicoamniotic shunting for lower urinary tract obstruction.
Moscardi PRM, Katsoufis CP, Jahromi M, Blachman-Braun R, DeFreitas MJ, Kozakowski K, Castellan M, Labbie A, Gosalbez R, Alam A. Moscardi PRM, et al. J Pediatr Urol. 2018 Aug;14(4):320.e1-320.e6. doi: 10.1016/j.jpurol.2018.07.004. Epub 2018 Jul 24. J Pediatr Urol. 2018. PMID: 30093259
These measurements were further correlated and analyzed as a predictor of end-stage renal disease (ESRD) within the first year of life. RESULTS: Etiologies of LUTO in the 15 male fetuses included eight posterior urethral valves, four Eagle-Barrett/prune belly syndrome, two …
These measurements were further correlated and analyzed as a predictor of end-stage renal disease (ESRD) within the first year of lif …
Single-center outcome analysis of 46 fetuses with megacystis after intrauterine vesico-amniotic shunting with the Somatex®intrauterine shunt.
Gottschalk I, Berg C, Menzel T, Abel JS, Kribs A, Dübbers M, Kohaut J, Weber LT, Taylan C, Habbig S, Liebau MC, Boemers TM, Weber EC. Gottschalk I, et al. Arch Gynecol Obstet. 2024 Jan;309(1):145-158. doi: 10.1007/s00404-022-06905-6. Epub 2023 Jan 5. Arch Gynecol Obstet. 2024. PMID: 36604332 Free PMC article.
RESULTS: 46 fetuses underwent VAS, 41 (89%) were male and 5 (11%) were female. 28 (61%) fetuses had isolated and 18 (39%) had complex megacystis with either aneuploidy (n = 1), anorectal malformations (n = 6), cloacal malformations (n = 3), congenital anomalies overlapping with V …
RESULTS: 46 fetuses underwent VAS, 41 (89%) were male and 5 (11%) were female. 28 (61%) fetuses had isolated and 18 (39%) had complex megacy …