نتایج جستجو برای: aganglionic
تعداد نتایج: 186 فیلتر نتایج به سال:
Hirschsprung's disease is congenital anomaly of the intestine and Harald Hirschsprung gave the first description of this disease'. The aim of this follow-up study was to evaluate the results of Rehbein's procedure in the treatment of Hirschsprung's disease in the last 30 years in Children's Hospital Zagreb. Hirschsprung's disease is congenital intestinal aganglionosis as the results of arrested...
Histopathological evaluation of the proximal segment in colonic resections/biopsies for Hirschsprung's disease (HD) is very important because of the strong link between proximal segment histology and postoperative outcome. Therefore, we investigated whether a recently described rapid immunohistochemical staining technique using EnVision-antibody-complex is suitable for intraoperative diagnosis ...
Waardenburg syndrome (WS) is an auditory-pigmentary disorder that exhibits varying combinations of sensorineural hearing loss and abnormal pigmentation of the hair and skin. Depending on additional symptoms, WS is classified into four subtypes, WS1-WS4. Absence of additional features characterizes WS2. The association of facial dysmorphic features defines WS1 and WS3, whereas the association wi...
The classic piebald mutation in the endothelin receptor type B (Ednrb) gene was found on rolling Nagoya genetic background (PROD-s/s) mice with white coat spotting. To examine whether genetic background influenced the phenotype in the piebald mutant mice, we generated a congenic strain (B6.PROD-s/s), produced by repeated backcrosses to the C57BL/6J (B6) strain. Although B6.PROD-s/s mice showed ...
Hirschsprung disease (HSCR) is a complex disorder that exhibits incomplete penetrance and variable expressivity due to interactions among multiple susceptibility genes. Studies in HSCR families have identified RET-dependent modifiers for short-segment HSCR (S-HSCR), but epistatic effects in long-segment (L-HSCR) and syndromic cases have not been fully explained. SOX10 mutations contribute to sy...
Recently HUKUHARA, KOTANI and SATO7) found that morphine always exerted an excitatory action on the motility of dog jejunal Thiry-loop, literature concerned being reviewed there. They drew a conclusion that morphine acted as an excitant to the intestinal muscle itself, since it could raise the intestinal motility after atropine as well as hexamethonium had been administered and on the other han...
The risk of recurrence of Hirschsprung's disease in sibs is reasonably well established. Survivors of early successful operations (rectosigmoidectomy) are now reaching adult life and are asking about risks to their children. The authors report a preliminary study on which to base a risk estimate. Studies on sibs show that for short segment index patients the risk to brothers is about 1 in 20 an...
Hirschsprung disease (HSCR, OMIM 142623) is a developmental disorder characterized by the absence of ganglion cells along variable lengths of the distal gastrointestinal tract, which results in tonic contraction of the aganglionic gut segment and functional intestinal obstruction. The RET proto-oncogene is the major gene for HSCR with differential contributions of its rare and common, coding an...
Hirschsprung disease is a congenital form of aganglionic megacolon that results from cristopathy. Hirschsprung disease usually occurs as a sporadic disease, although it may be associated with several inherited conditions, such as multiple endocrine neoplasia type 2. The rearranged during transfection (RET) proto-oncogene is the major susceptibility gene for Hirschsprung disease, and germline mu...
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