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Quoted phrase not found in phrase index: "Megacystis-microcolon-intestinal hypoperistalsis syndrome 2"
Page 1
Megacystis-microcolon-intestinal hypoperistalsis syndrome.
Vinograd I, Mogle P, Lernau OZ, Nissan S. Vinograd I, et al. Arch Dis Child. 1984 Feb;59(2):169-71. doi: 10.1136/adc.59.2.169. Arch Dis Child. 1984. PMID: 6703769 Free PMC article.
Two neonates with megacystis-microcolon-intestinal hypoperistalsis syndrome are described. ...
Two neonates with megacystis-microcolon-intestinal hypoperistalsis syndrome are described. ...
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. ...Of the 22 patients alive at the time of study (11 transplanted, 11 nontransplant …
OBJECTIVES: Describe clinical characteristics, management, and outcome in a cohort of megacystis microcolon intestinal …
Megacystis-microcolon-intestinal hypoperistalsis syndrome: case report and review of prenatal ultrasonographic findings.
Tuzovic L, Anyane-Yeboa K, Mills A, Glassberg K, Miller R. Tuzovic L, et al. Fetal Diagn Ther. 2014;36(1):74-80. doi: 10.1159/000357703. Epub 2014 Feb 21. Fetal Diagn Ther. 2014. PMID: 24577413 Review.
OBJECTIVE: To investigate prenatal ultrasonographic findings associated with megacystis-microcolon-intestinal hypoperistalsis syndrome (MMIHS). METHODS: A PubMed search was performed using the terms 'MMIHS', 'MMIH' and 'prenatal diagnosis'. ...W …
OBJECTIVE: To investigate prenatal ultrasonographic findings associated with megacystis-microcolon-intestinal hypope …
Megacystis-microcolon-intestinal hypoperistalsis syndrome (MMIHS), an autosomal recessive disorder: clinical reports and review of the literature.
Annerén G, Meurling S, Olsen L. Annerén G, et al. Am J Med Genet. 1991 Nov 1;41(2):251-4. doi: 10.1002/ajmg.1320410224. Am J Med Genet. 1991. PMID: 1785644 Review.
We present 2 new patients with the megacystis-microcolon-intestinal hypoperistalsis syndrome (MMIHS), review the literature, and discuss the prenatal diagnosis and treatment. ...Neither surgery nor medical treatment was successful and the …
We present 2 new patients with the megacystis-microcolon-intestinal hypoperistalsis syndrome (MMIH …
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. ...There were 56 (12%) cases in which familial MMIHS was co …
BACKGROUND/PURPOSE: Megacystis microcolon intestinal hypoperistalsis syndrome (MMIHS) is a rare congenita …
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. Lombardi L, et al. J Pediatr Gastroenterol Nutr. 2018 Mar;66(3):383-386. doi: 10.1097/MPG.0000000000001727. J Pediatr Gastroenterol Nutr. 2018. PMID: 28837505
Six IVM patients and 7 pediatric control cases (without gastrointestinal diseases) were studied. One case was a typical megacystis-microcolon-intestinal hypoperistalsis syndrome. The diagnostic path included: rectal suction biopsy, one-trocar tr …
Six IVM patients and 7 pediatric control cases (without gastrointestinal diseases) were studied. One case was a typical megacystis- …
Histopathological, Ultrastructural, and Immunohistochemical Findings in MYH11-Variant Visceral Myopathy.
Kapur RP. Kapur RP. Pediatr Dev Pathol. 2023 Jan-Feb;26(1):39-51. doi: 10.1177/10935266221128133. Epub 2022 Dec 26. Pediatr Dev Pathol. 2023. PMID: 36571289
METHODS: Light microscopic, immunohistochemical, and ultrastructural findings from multiple intestinal samples from 2 patients with MYH11-variant visceral myopathy were reviewed, including MYH11-specific immunohistochemistry. ...
METHODS: Light microscopic, immunohistochemical, and ultrastructural findings from multiple intestinal samples from 2 patients with M …
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
Twenty fetuses with megacystis were identified. Seventeen were male; 2 were female; and 1 had ambiguous genitalia. All male fetuses with megacystis originally had a diagnosis of prune belly syndrome. ...One of the female fetuses had a diagnosis of urethral atresia, and the …
Twenty fetuses with megacystis were identified. Seventeen were male; 2 were female; and 1 had ambiguous genitalia. All male fetuses w …
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 …
Mutation in Actin gamma-2 Responsible for Megacystis Microcolon Intestinal Hypoperistalsis Syndrome in 4 Chinese Patients.
Lu W, Xiao Y, Huang J, Tao Y, Yan W, Lu L, Cao Y, Cai W. Lu W, et al. J Pediatr Gastroenterol Nutr. 2016 Dec;63(6):624-626. doi: 10.1097/MPG.0000000000001204. J Pediatr Gastroenterol Nutr. 2016. PMID: 27007401
The aim of this study was to identify the underlying molecular mechanism for the development of megacystis microcolon intestinal hypoperistalsis syndrome in 4 Chinese patients. ...
The aim of this study was to identify the underlying molecular mechanism for the development of megacystis microcolon intes …
27 results