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Quoted phrase not found in phrase index: "Megacystis-microcolon-intestinal hypoperistalsis syndrome 5"
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. ...Seventeen patients had available prenatal imaging reports; all showed distended …
OBJECTIVES: Describe clinical characteristics, management, and outcome in a cohort of megacystis microcolon intestinal …
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. ...Fetal urinalysis was normal in 12/12 MMIHS cases except high calcium (>0.6 mmol/l). This profile was …
OBJECTIVES: Megacystis-microcolon-intestinal hypoperistalsis syndrome (MMIHS) is a usually lethal disease …
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). ...One-quarter of the patients died (25.7%), and 6 req …
Twenty-eight unique variants were analyzed, all exceedingly rare, and 27 predicted to be highly damaging. The median Combined Annotat …
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 with ureth …
A total of 1238 urinary bladder measurements were obtained. Z-scores, derived from the fetal nomograms, were calculated in 106 cases …
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 …
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.
Intrauterine course, underlying pathology and postnatal outcome were assessed and correlated with the underlying pathology and gestational age at first VAS. RESULTS: 46 fetuses underwent VAS, 41 (89%) were male and 5 (11%) were female. 28 (61%) fetuses had isolated and 18 …
Intrauterine course, underlying pathology and postnatal outcome were assessed and correlated with the underlying pathology and gestational a …
Protein-elongating mutations in MYH11 are implicated in a dominantly inherited smooth muscle dysmotility syndrome with severe esophageal, gastric, and intestinal disease.
Gilbert MA, Schultz-Rogers L, Rajagopalan R, Grochowski CM, Wilkins BJ, Biswas S, Conlin LK, Fiorino KN, Dhamija R, Pack MA, Klee EW, Piccoli DA, Spinner NB. Gilbert MA, et al. Hum Mutat. 2020 May;41(5):973-982. doi: 10.1002/humu.23986. Epub 2020 Feb 6. Hum Mutat. 2020. PMID: 31944481
Using exome sequencing, we identified a 2 base pair insertion at the end of the myosin heavy chain 11 (MYH11) gene in all affected members of Family 1 [NM_001040113:c.5819_5820insCA(p.Gln1941Asnfs*91)] and a 1 base pair deletion at the same genetic locus in Proband 2 [NM_00104011 …
Using exome sequencing, we identified a 2 base pair insertion at the end of the myosin heavy chain 11 (MYH11) gene in all affected members o …
Reversal of Intestinal Failure-Associated Liver Disease by Switching From a Combination Lipid Emulsion Containing Fish Oil to Fish Oil Monotherapy.
Lee S, Park HJ, Yoon J, Hong SH, Oh CY, Lee SK, Seo JM. Lee S, et al. JPEN J Parenter Enteral Nutr. 2016 Mar;40(3):437-40. doi: 10.1177/0148607114567200. Epub 2015 Jan 5. JPEN J Parenter Enteral Nutr. 2016. PMID: 25560679
Case 2 was a 1-month-old boy with a history of gastroschisis diagnosed with megacystis microcolon intestinal hypoperistalsis syndrome. He could not tolerate any oral feeds and was kept on full PN. ...Then a gradual decrease in direct bilirubin w …
Case 2 was a 1-month-old boy with a history of gastroschisis diagnosed with megacystis microcolon intestinal hypoper …
A +3 variant at a donor splice site leads to a skipping of the MYH11 exon 32, a recurrent RNA defect causing Heritable Thoracic Aortic Aneurysm and Dissection and/or Patent Ductus Arteriosus.
Chesneau B, Plancke A, Rolland G, Marcheix B, Dulac Y, Edouard T, Plaisancié J, Aubert-Mucca M, Julia S, Langeois M, Lavabre-Bertrand T, Khau Van Kien P. Chesneau B, et al. Mol Genet Genomic Med. 2021 Nov;9(11):e1814. doi: 10.1002/mgg3.1814. Epub 2021 Oct 21. Mol Genet Genomic Med. 2021. PMID: 34672437 Free PMC article.
BACKGROUND: Pathogenic variants in MYH11 are associated with either heritable thoracic aortic aneurysm and dissection (HTAAD), patent ductus arteriosus (PDA) syndrome, or megacystis-microcolon-intestinal hypoperistalsis syndrome (MMIHS). METHODS …
BACKGROUND: Pathogenic variants in MYH11 are associated with either heritable thoracic aortic aneurysm and dissection (HTAAD), patent ductus …