نتایج جستجو برای: hirschsprung disease

تعداد نتایج: 1490190  

2017
Christina Granéli Eero Dahlin Anna Börjesson Einar Arnbjörnsson Pernilla Stenström

Background/Aim. Hirschsprung's disease (HD) has a skewed gender distribution, with a female to male ratio of 1 : 4. This study aims to examine differences between boys and girls with HD regarding preoperative features and postoperative treatment and outcome. Method. The first part of the study was conducted as a retrospective review of all HD patients who underwent transanal endorectal pull-thr...

2010
Maria M. M. Alves Jan Osinga Joke B. G. M. Verheij Marco Metzger Bart J. L. Eggen Robert M. W. Hofstra

Hirschsprung disease (HSCR) is a congenital malformation characterized by the absence of enteric neurons in the distal part of the colon. Several genes have been implicated in the development of this disease that together account for 20% of all cases, implying that other genes are involved. Since HSCR is frequently associated with other congenital malformations, the functional characterization ...

Journal: :Journal of medical genetics 2001
J Amiel E Sproat-Emison M Garcia-Barcelo F Lantieri G Burzynski S Borrego A Pelet S Arnold X Miao P Griseri A S Brooks G Antinolo L de Pontual M Clement-Ziza A Munnich C Kashuk K West K K-Y Wong S Lyonnet A Chakravarti P K-H Tam I Ceccherini R M W Hofstra R Fernandez

Hirschsprung disease (HSCR, aganglionic megacolon) represents the main genetic cause of functional intestinal obstruction with an incidence of 1/5000 live births. This developmental disorder is a neurocristopathy and is characterised by the absence of the enteric ganglia along a variable length of the intestine. In the last decades, the development of surgical approaches has importantly decreas...

Journal: :Biochimica et biophysica acta 2016
Chunxia Du Ziyang Shen Rujin Zang Hua Xie Hongxing Li Pingfa Chen Bo Hang Xiaoqun Xu Weibing Tang Yankai Xia

Hirschsprung disease (HSCR) is a genetic disorder of neural crest development. It is also believed that epigenetic changes plays a role in the progression of this disease. Here we show that the MIR143 host gene (MIR143HG), the precursor of miR-143 and miR-145, decreased cell proliferation and migration and forms a negative feedback loop with RBM24 in HSCR. As RBM24 mRNA is a target of miR-143, ...

2007
D Wilson-Storey W G Scobie K G McGenity

The results of a prospective study of 20 cases of newly diagnosed Hirschsprung's disease (nine ofwhom developed enterocolitis) and 10 normal controls showed no variations in the bacterial flora (including Clostridium difficile) in the stools of the groups studied. Viral studies showed that rotavirus was present in the stools of seven of the nine cases of enterocolitis during the episode. We sug...

2001
Jeanne Amiel Stanislas Lyonnet

Hirschsprung disease (HSCR, aganglionic megacolon) is the main genetic cause of functional intestinal obstruction with an incidence of 1/5000 live births. This developmental disorder is a neurocristopathy and is characterised by the absence of the enteric ganglia along a variable length of the intestine. In the last decades, the development of surgical approaches has dramatically decreased mort...

نمودار تعداد نتایج جستجو در هر سال

با کلیک روی نمودار نتایج را به سال انتشار فیلتر کنید