Results 11 to 20 of about 419 (137)

Compound heterozygous loss of function variants in MYL9 in a child with megacystis–microcolon–intestinal hypoperistalsis syndrome

Molecular Genetics & Genomic Medicine, 2020
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. Five genes are linked to MMIHS: primarily ACTG2, but
Justin L. Kandler, Evgenia Sklirou, Audrey Woerner, Leslie Walsh, Eleina Cox, Yuan Xue   +5 more
doaj   +2 more sources

Megacystis microcolon intestinal hypoperistalsis syndrome overlapping prune belly syndrome

Journal of Pediatric Surgery Case Reports, 2018
Megacystis microcolon intestinal hypoperistalsis syndrome (MMIHS) is a rare congenital visceral myopathy. We experienced a case of an infant with MMIHS with prune belly syndrome (PBS).
Hidehiko Maruyama, Yuichi Hasegawa, Rika Sugibayashi, Yuka Iwasaki, Shuhei Fujino, Shoichiro Amari, Junko Nagasawa, Yuka Wada, Hideshi Fujinaga, Keiko Tsukamoto, Kazunori Tahara, Takako Yoshioka, Yushi Ito, Haruhiko Sago   +13 more
doaj   +2 more sources

Heterozygous de novo and inherited mutations in the smooth muscle actin (ACTG2) gene underlie megacystis-microcolon-intestinal hypoperistalsis syndrome.

PLoS Genetics, 2014
Megacystis-microcolon-intestinal hypoperistalsis syndrome (MMIHS) is a rare disorder of enteric smooth muscle function affecting the intestine and bladder.
Michael F Wangler, Claudia Gonzaga-Jauregui, Tomasz Gambin, Samantha Penney, Timothy Moss, Atul Chopra, Frank J Probst, Fan Xia, Yaping Yang, Steven Werlin, Ieva Eglite, Liene Kornejeva, Carlos A Bacino, Dustin Baldridge, Jeff Neul, Efrat Lev Lehman, Austin Larson, Joke Beuten, Donna M Muzny, Shalini Jhangiani, Baylor-Hopkins Center for Mendelian Genomics, Richard A Gibbs, James R Lupski, Arthur Beaudet   +23 more
doaj   +2 more sources

Megacystis microcolon intestinal hypoperistalsis syndrome complicated by perforation

African Journal of Paediatric Surgery, 2011
Megacystis microcolon intestinal hypoperistalsis syndrome (MMIHS) is a quite rare congenital and fatal disease. The disease is three to four times more prevalent in females than males. Most of the cases die within the early months of their lives.
Jain Vishal, Garge Saurabh, Singh Sangram, Lahoti Brijesh   +3 more
doaj   +2 more sources

Megacystis-Microcolon-intestinal hypoperistalsis syndrome

Journal of Pediatric Surgery Case Reports, 2019
Megacystis Microcolon Intestinal Hypoperistalsis Syndrome (MMIHS) is a rare congenital anomaly that presents with severe form of functional obstruction of the gastrointestinal tract which is usually fatal.
Ahmed Elrouby, Mostafa Ahmed Kotb, Mostafa Abdelatty, Saber Waheeb   +3 more
doaj   +2 more sources

The incidence and outcome of allied disorders of Hirschsprung's disease in Japan: Results from a nationwide survey [PDF]

Asian Journal of Surgery, 2017
Background: Allied disorders of Hirschsprung's disease (ADHD) have been proposed to be the concept of the functional obstruction of the intestine with the presence of ganglion cells in the terminal rectum. They are classified into two categories based on
Tomoaki Taguchi, Satoshi Ieiri, Kina Miyoshi, Kenichi Kohashi, Yoshinao Oda, Akio Kubota, Yoshio Watanabe, Hiroshi Matsufuji, Masahiro Fukuzawa, Takeshi Tomomasa   +9 more
doaj   +2 more sources

Do certain drugs cause the megacystis-microcolon-intestinal hypoperistalsis syndrome

The Turkish Journal of Pediatrics, 1989
A case of megacystis-microcolon-intestinal hypoperistalsis syndrome (MMIHS) in the offspring of a mother who had ingested scopolamine, trimethoprim-sulfadiazine and dipyrone during pregnancy is presented.
H Doğruyol
doaj   +3 more sources

An antenatal appearance of megacystis-microcolon-intestinal hypoperistalsis syndrome [PDF]

The Turkish Journal of Pediatrics, 2008
We herein present a megacystis-microcolon-intestinal hypoperistalsis syndrome (MMIHS) case followed by ultrasound (US) examinations before birth.
Yoichiro Oka, Koushi Asabe, Takayuki Shirakusa, Kazuki Nabeshima   +3 more
doaj   +1 more source

A Novel Mutation in ACTG2 Gene in Mother with Chronic Intestinal Pseudoobstruction and Fetus with Megacystis Microcolon Intestinal Hypoperistalsis Syndrome [PDF]

Case Reports in Genetics, 2017
Background. A novel mutation in the ACTG2 gene is described in a pregnant patient followed up for chronic intestinal pseudoobstruction (CIPO) during pregnancy and her fetus with megacystis microcolon intestinal hypoperistalsis syndrome (MMIHS). Case.
Julie R. Whittington, Aaron T. Poole, Eryn H. Dutta, Mary B. Munn   +3 more
doaj   +2 more sources

International Forum on Visceral Myopathy 2024: Advances in the Knowledge of the Disease. [PDF]

Neurogastroenterol Motil
As an orphan disease, where treatment is not curative and diagnosis is often slow, VSCM represents a serious health and social problem requiring research efforts in several directions. ABSTRACT Background Visceral myopathy (VSCM) is an ultra‐rare life‐threatening condition characterized by severe impairment of gastrointestinal (GI), genitourinary, and ...
de Santa Barbara P, Ceccherini I, Heuckeroth RO, Di Lorenzo C, Alves MM, Beyder A, Borrelli O, Cacopardo L, Ceron R, Chen J, Chiappori F, Contessa A, De Giorgio R, Diamanti A, Faticato MG, Faure S, Hashmi SK, Huizinga JD, Kapur RP, Lambe C, Lancon L, McManigal R, Mousa H, Palmitelli A, Perreaux V, Prato AP, Pitto M, Proietti E, Rendu J, Rybak A, Sanders KM, Sardar S, Stanghellini V, Tambucci R, Thapar N, Vanden Berghe P, Vassalli M, Wang Q, Wangler M, Wolfson S, Zada A, Zhou J, Viti F.   +42 more
europepmc   +2 more sources