Results 151 to 160 of about 2,226 (184)

Actg2D245G mutation cause megacystis-microcolon-intestinal hypoperistalsis syndrome by impairing smooth muscle contractility.

Journal of Pediatric Surgery
PURPOSE Megacystis-microcolon-intestinal hypoperistalsis syndrome (MMIHS; OMIM:619431) is a congenital disorder of the urinary and digestive systems that is caused by contractile dysfunction of smooth muscles.
Jie Zhou, Shan-Shan Chen, Hui Cai, Ying Lu, Shicheng Peng, Wei Cai, Yongtao Xiao, Ying Wang   +7 more
semanticscholar   +1 more source

Repeated facial swelling caused by pericoronitis in a patient with megacystis microcolon intestinal hypoperistalsis syndrome: a case report

Journal of Clinical Pediatric Dentistry
Background : Facial swelling due to pericoronitis associated with tooth eruption commonly involves the wisdom teeth, but can rarely involve deciduous teeth or permanent premolars.
C. Takasaki, Toshihiro Yoshihara, Aya Matsuda, Yasutaka Yawaka   +3 more
semanticscholar   +1 more source

Megacystis-microcolon-intestinal hypoperistalsis syndrome: the difficulties with antenatal diagnosis. Case report and review of the literature

Prenatal Diagnosis, 2000
Megacystis on antenatal scan in female fetuses is rare and has serious diagnostic implications. We report two cases of megacystis-microcolon-intestinal hypoperistalsis syndrome (MMIHS) in female infants in whom antenatal scan abnormalities were ...
Peter Sullivan
exaly   +2 more sources

Megacystis-Megacolon-Intestinal Hypoperistalsis Syndrome with Intestinal Neuronal Dysplasia: Expanding the Phenotypic Spectrum

Fetal and Pediatric Pathology
Background Megacystitis-megacolon-intestinal hypoperistalsis syndrome is a phenotypic variant of visceral neuromuscular dysfunction. Megacystitis-microcolon-intestinal hypoperistalsis syndrome is a recognized entity.
Hemlata Jangir, Shailesh Solanki, Nandita Kakkar, J. K. Mahajan   +3 more
semanticscholar   +1 more source

Prenatal Diagnosis of ACTG2 Visceral Myopathy Presented With Fetal Megacystis Identified in the Second Trimester

Prenatal Diagnosis
Variants of the ACTG2 gene cause autosomal dominant ACTG2 visceral myopathy, a disorder of smooth muscle dysfunction of the bladder and gastrointestinal system. Bladder involvement can behave as fetal megacystis (FM).
Qiu-Xia Yu, Na Liu, Li Zhen, Yun-Jing Wen, Dongzhi Li   +4 more
semanticscholar   +1 more source

Survival, kidney function, and complications in the first year of life following intrauterine shunting for first-trimester fetal megacystis (IUS1st): analysis of a prospective observational cohort.

The Lancet Child & Adolescent Health
BACKGROUND Congenital lower urinary tract obstruction is a major cause of chronic kidney disease in children. Severe first-trimester megacystis larger than 15 mm is almost invariably associated with poor outcome.
E. Weber, Stefan Kohl, I. Gottschalk, F. Recker, Nikolas Neumann, Ina Memetaj-Lang, T. Boemers, J. Kohaut, A. Kribs, L. T. Weber, Andreas Müller, B. Strizek, S. Habbig, Christoph Berg   +13 more
semanticscholar   +1 more source

Megacystis Microcolon Intestinal Hypoperistalsis Syndrome

Applied Radiology
Megacystis microcolon intestinal hypoperistalsis syndrome (MMIHS) is a congenital disease distinguished by a markedly dilated acontractile bladder and a microcolon with dysfunctional peristalsis in the absence of mechanical obstruction. While the exact
Kathleen LeFiles, R. Towbin, Carrie M. Schaefer, A. Towbin   +3 more
semanticscholar   +1 more source

Myh11 haploinsufficiency recapitulates megacystis and voiding dysfunction in a mouse model of MMIHS.

Journal of Pediatric Urology
BACKGROUND Megacystis-microcolon-intestinal hypoperistalsis syndrome (MMIHS) is a fatal rare disorder characterized by bladder and colonic smooth muscle dysfunction.
Jing Song, Wan-Lun Wang, Tong Liu, Hudeer Song, Chen-xi Yang, Yu-qi Zhang, Peng-fei Li, Rui Xiao   +7 more
semanticscholar   +1 more source

Fetal Megacystis in the first trimester: Comparing management and outcomes between longitudinal bladder length groups

Journal of Gynecology Obstetrics and Human Reproduction, 2023
Mariana Ormonde, Ana Teresa Martins, Fatima Alves   +2 more
exaly  

Exploring the complexities of megacystis-microcolon-intestinal hypoperistalsis syndrome: insights from genetic studies

Clinical Journal of Gastroenterology
Prasad K V Devavarapu, K. Uppaluri, Vrushabh Anil Nikhade, Kalyani Palasamudram, Kavutharapu Sri Manjari   +4 more
semanticscholar   +1 more source