نتایج جستجو برای: megacystis

تعداد نتایج: 120  

2013
Yun Chen Ya-Hui Tsai Yuan-An Liu Shih-Hua Lee Sheng-Hong Tseng Shiue-Cheng Tang

Two-dimensional (2D) histopathology is the standard analytical method for intestinal biopsied tissues; however, the role of 3-dimensional (3D) imaging system in the analysis of the intestinal tissues is unclear. The 3D structure of the crypt organoids from the intestinal stem cell culture and intestinal tissues from the donors and recipients after intestinal transplantation was observed using a...

Journal: :Prenatal diagnosis 2011
Argyro Syngelaki Teodora Chelemen Themistoklis Dagklis Lindsey Allan Kypros H Nicolaides

OBJECTIVE To examine the performance of the 11-13 weeks scan in detecting non-chromosomal abnormalities. METHODS Prospective first-trimester screening study for aneuploidies, including basic examination of the fetal anatomy, in 45 191 pregnancies. Findings were compared to those at 20-23 weeks and postnatal examination. RESULTS Aneuploidies (n = 332) were excluded from the analysis. Fetal a...

Journal: :Proceedings of the National Academy of Sciences of the United States of America 2017
Danny Halim Michael P Wilson Daniel Oliver Erwin Brosens Joke B G M Verheij Yu Han Vivek Nanda Qing Lyu Michael Doukas Hans Stoop Rutger W W Brouwer Wilfred F J van IJcken Orazio J Slivano Alan J Burns Christine K Christie Karen L de Mesy Bentley Alice S Brooks Dick Tibboel Suowen Xu Zheng Gen Jin Tono Djuwantono Wei Yan Maria M Alves Robert M W Hofstra Joseph M Miano

Megacystis microcolon intestinal hypoperistalsis syndrome (MMIHS) is a congenital visceral myopathy characterized by severe dilation of the urinary bladder and defective intestinal motility. The genetic basis of MMIHS has been ascribed to spontaneous and autosomal dominant mutations in actin gamma 2 (ACTG2), a smooth muscle contractile gene. However, evidence suggesting a recessive origin of th...

2016
A Abbasoglu T Cabioglu E Yapakci A Ecevit AU Tugcu A Tarcan

natal intensive care medicine. The only therapeutic option for renal replacement therapy in small infants or premature babies with acute renal failure is peritoneal dialysis. In this paper two case reports of sealing an untight peritoneal catheter with cyanoacrylate glue will be presented. Patient 1: Premature infant of 34 + 2 weeks gestational age. Dorsal cloaca malformation with megacystis an...

2014
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 Richard A. Gibbs James R. Lupski Arthur Beaudet

Megacystis-microcolon-intestinal hypoperistalsis syndrome (MMIHS) is a rare disorder of enteric smooth muscle function affecting the intestine and bladder. Patients with this severe phenotype are dependent on total parenteral nutrition and urinary catheterization. The cause of this syndrome has remained a mystery since Berdon's initial description in 1976. No genes have been clearly linked to M...

Journal: :The Journal of clinical investigation 2003
Vivian M Lee Markus Stoffel

negative’ myasthenia gravis. J. Neuroimmunol. 28:83–93. 8. Drachman, D.B., de Silva, S., Ramsay, D., and Pestronk, A. 1987. Humoral pathogenesis of myasthenia gravis. Ann. NY Acad. Sci. 505:90–105. 9. Drachman, D., DeSilva, S., Ramsay, D., and Pestronk, A. 1987. “Sero-negative” myasthenia gravis: a humorally mediated variant of myasthenia. Neurology. 37(Suppl. 1):214. 10. Burges, J., et al. 199...

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