Results 81 to 90 of about 1,107 (148)

Fetal Magnetic Resonance Imaging of Megacystis microcolon intestinal hypoperistalsis syndrome

Megacystis microcolon intestinal hypoperistalsis syndrome (MMIHs) is a rare congenital anomaly, involve urinary tract and gastrointestinal tract. The prognosis is dismal, the death is caused by infection.
Wirasasmita, Dewi Asih, Sachlan, Alexandra   +1 more
core   +1 more source

De novo ACTG2 mutations cause congenital distended bladder, microcolon, and intestinal hypoperistalsis

, 2014
Megacystis-microcolon-intestinal hypoperistalsis syndrome (MMIHS) is characterized by prenatal-onset distended urinary bladder with functional intestinal obstruction, requiring extensive surgical intervention for survival.
Blanton, Susan, Diaz-Horta, Oscar, Foster, 2nd, Joseph, Tekin, Mustafa, Farooq, Amjad, Spiliopoulos, Michail, Thorson, Willa, Quintero, Rubén   +7 more
core   +1 more source

Delayed diagnosis of long-segment Hirschsprung disease after type IIIa ileal atresia repair: a case report

Journal of Pediatric Surgery Case Reports
Introduction: The coexistence of intestinal atresia and Hirschsprung disease (HD) is rare. In neonates with distal small bowel atresia, a narrow unused colon may be attributed to disuse microcolon, delaying recognition of aganglionosis. Case presentation:
Yusuke Nakamura, Yukari Sakae, Ken Harumoto   +2 more
doaj   +1 more source

Loss-of-Function Variants in MYLK Cause Recessive Megacystis Microcolon Intestinal Hypoperistalsis Syndrome

, 2017
Megacystis microcolon intestinal hypoperistalsis syndrome (MMIHS) is a congenital disorder characterized by loss of smooth muscle contraction in the bladder and intestine. To date, three genes are known to be involved in MMIHS pathogenesis: ACTG2, MYH11,
Lupski, J.R. (James R.), Akdemir, Z.H.C. (Zeynep H. Coban), IJcken, W.F.J. (Wilfred) van, Burns, A.J. (Alan), Brosens, E. (Erwin), Rosenblatt, J. (Jonathan), De Graaf, B.M. (Bianca M), Muller, F. (Françoise), Wangler, M.F. (Michael F.), Tibboel, D. (Dick), Stoop, J.A. (Hans), Oury, J.-F. (Jean-François), Doukas, M. (Michael), Halim, D. (Danny), Alves, M.M. (Maria), Beaudet, A.L. (Arthur L.), Brouwer, R.W.W. (Rutger), Hofstra, R.M.W. (Robert)   +17 more
core   +1 more source

Un lactante con neumatosis intestinal y neumoperitoneo: la difícil decisión de no intervenir

Anales del Sistema Sanitario de Navarra, 2018
El neumoperitoneo en niños puede deberse a causas que no requieran cirugía urgente, como maniobras de reanimación cardiopulmonar, patología respiratoria grave o ventilación mecánica.
J. Pisón-Chacón, A. Pérez-Martínez, N. Lecumberri García, Y. Armendáriz Cuevas, A. Molina Caballero, C. Goñi Orayen   +5 more
doaj  

ACTG2 variants impair actin polymerization in sporadic Megacystis Microcolon Intestinal Hypoperistalsis Syndrome

, 2016
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.
Dahl, N, Wijnen, Rene M. H., Van Der Werf, CS, Verheij, JBGM, Tibboel, Dick, van IJcken, Wilfred F. J., van Bever, Yolande, Baumann, C, Verdijk, Rob, Muller, F, Burns, Alan J., Muller, Franoise, Galjart, Niels; id_orcid, Dahl, Niklas, Hofstra, Robert, Wijnen, Rene, van Ijcken, Wilfred; id_orcid, Brouwer, Rutger, Alves, Maria, Alves, Maria M., van der Werf, Christine S., Brooks, Alice, Verdijk, Rob M., Kerner, J, Halim, Danny, Signorile, Luca, Baumann, Clarisse, Burns, Alan, Brooks, Alice S., Kerner, John, van Ijcken, Wilfred, Galjart, Niels, Verheij, Joke B. G. M., Hofstra, Robert M. W., Brouwer, Rutger W. W., Bever, Yolande, Sribudiani, Yunia   +36 more
core   +1 more source

Unusual cause of neonatal intestinal obstruction

Nigerian Journal of Paediatrics
There are many causes of intestinal obstruction in the neonatal age. The most common types are mechanical and result from congenital malformations of the gastrointestinal tract. However, functional disorders also occur.
Zikavska T , Brucknerova I,, Cervenova O, Vidiscak M , Hustavova L   +4 more
doaj  

Rare Association of Mayer-Rokitansky-Kuster-Hauser Syndrome with Rectovestibular Fistula and Colonic Atresia. [PDF]

J Indian Assoc Pediatr Surg
Pais A, Karkera P, Bendre PS, Sanglikar S, Pikale H, Bodhanwala M.   +5 more
europepmc   +1 more source

Imaging of megacystis-microcolon-intestinal hypoperistalsis syndrome before, during, and after the neonatal period: a pictorial review. [PDF]

Pediatr Radiol
Krishnasarma R, Maria Anthony Rayer DA, Sarma A, Singh S, Reddy N, Foust A, Johnstone L, Singh S, Snyder E.   +8 more
europepmc   +1 more source

Different results with early single-stage and staged repair in infants with ileal atresia: a two-case report on the effect of timing and treatment approach. [PDF]

Int J Surg Case Rep
Saada LJM, Saada J.
europepmc   +1 more source