Results 61 to 70 of about 1,107 (148)

Syndromic and single gene disorders associated with fetal megacystis (I): Megacystis-microcolon-intestinal hypoperistalsis syndrome (MMIHS)

Taiwanese Journal of Obstetrics & Gynecology
Fetal megacystis has been reported to be associated with chromosomal abnormalities, megacystis-microcolon-intestinal hypoperistalsis syndrome (MMIHS), obstructive uropathy, prune belly syndrome, cloacal anomalies, limb-body wall complex, amniotic band ...
Chih-Ping Chen
doaj   +1 more source

Isolated ileal perforation in infancy: a lethal initial presentation of Hirschsprung’s disease

Pediatric Reports, 2017
A rare case of ileal perforation, as a fatal initial presentation of total colonic aganglionosis (TCA) in infancy is reported. A 10-week-old boy, was brought to the emergency department with symptoms of complicated intestinal obstruction.
Fadi Iskandarani, Chawki Hammoud, Sarah Srour, Gloria Pelizzo, Ghassan Nakib, Valeria Calcaterra, Amir Khanafer   +6 more
doaj   +1 more source

Known pathogenic gene variants and new candidates detected in sudden unexpected infant death using whole genome sequencing

American Journal of Medical Genetics Part A, Volume 194, Issue 11, November 2024.
Abstract The purpose of this study is to gain insights into potential genetic factors contributing to the infant's vulnerability to Sudden Unexpected Infant Death (SUID). Whole Genome Sequencing (WGS) was performed on 144 infants that succumbed to SUID, and 573 healthy adults.
Angela M. Bard, Lindsay V. Clark, Erdal Cosgun, Kimberly A. Aldinger, Andrew Timms, Lely A. Quina, Juan M. Lavista Ferres, David Jardine, Elisabeth A. Haas, Tatiana M. Becker, Chelsea M. Pagan, Avni Santani, Diego Martinez, Soumitra Barua, Zakkary McNutt, Addie Nesbitt, Edwin A. Mitchell, Jan‐Marino Ramirez   +17 more
wiley   +1 more source

Chromosomal abnormalities associated with fetal megacystis

Taiwanese Journal of Obstetrics & Gynecology
Fetal megacystis has been reported to be associated with chromosomal abnormalities, megacystis-microcolon-intestinal hypoperistalsis syndrome (MMIHS), obstructive uropathy, prune belly syndrome, cloacal anomalies, limb-body wall complex, amniotic band ...
Chih-Ping Chen
doaj   +1 more source

Extended total colonic aganglionosis and total intestinal aganglionosis: Challenging enemies

Acta Paediatrica, Volume 113, Issue 10, Page 2297-2303, October 2024.
Abstract Aim Extended total colonic aganglionosis (ETCA) represents uncommon forms of Hirschsprung disease (HD), with aganglionosis extending into the proximal small bowel. ETCA management is challenging and associated with poor outcomes and high mortality. This study compares management and outcomes of ETCA to more common HD forms.
Audelia Eshel Fuhrer, Olga Govorukhina, Gal Becker, Yoav Ben‐Shahar, Hadar Moran‐Lev, Igor Sukhotnik   +5 more
wiley   +1 more source

Radiological presentation of a case of Type-III ileal atresia with unused microcolon in a rural setup- A case report [PDF]

, 2015
Ileal atresia is the result of an in-utero vascular accident, leading to distal small bowel obstruction. Contrast enema is the primary imaging study to diagnose distal bowel obstruction.
Rawal, Gautam, Gupta, Nishant, Yadav, Sankalp   +2 more
core   +1 more source

Evaluation of Selected Pollutants and Measures to Reduce Their Impacts on Health in Military Workplaces

Chemical Engineering Transactions, 2017
The paper describes the measurement of contamination by selected pollutants such as explosives and nanoparticles in military workplaces. A scanning mobility particle sizer and a functional sample of a portable device for rapid analysis of explosives and ...
E. Kellnerova, Z. Vecera, J. Kellner, T. Zeman   +3 more
doaj   +1 more source

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   +1 more source

Megacystis microcolon intestinal hypoperistalsis syndrome: A report of a nationwide survey in Japan [PDF]

Soh H., Fukuzawa M., Kubota A., et al. Megacystis microcolon intestinal hypoperistalsis syndrome: A report of a nationwide survey in Japan. Journal of Pediatric Surgery 50, 2048 (2015); https://doi.org/10.1016/j.jpedsurg.2015.08.026.Background ...
Soh, Hideki, Kawahara, Hisayoshi, Fukuzawa, Masahiro, Ueno, Takehisa, Kubota, Akio, Taguchi, Tomoaki   +5 more
core   +1 more source

Megacystitis-Microcolon-Intestinal Hypoperistalsis Syndrome: A Case Report [PDF]

, 2022
MM is a 12-month-old female with history of chronic constipation, megacystitis, muscle weakness and failure to thrive who presented to the pediatric ED for massive abdominal distention in the setting of decreased oral intake.
Soppet, Kelsey, Hogan, Patricia J
core