[PDF] Top 20 Pathways systematically associated to Hirschsprung’s disease
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Pathways systematically associated to Hirschsprung’s disease
... significantly associated to HSCR found in the analysis individualized by population in any of the two ...the disease, such as synaptic transmission, the transport of several substances (cation transport or ... See full document
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Maternal Risk Factors and Perinatal Characteristics for Hirschsprung Disease
... Preterm birth may have many causes, for example, preeclampsia or congenital malformations. Maternal preeclampsia was not overrepresented among the cases’ mothers in this study. Another possible marker for a problematic ... See full document
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Original Article WNT3A gene expression is associated with isolated Hirschsprung disease polymorphism and disease status
... Hirschsprung disease (HSCR) is a congenital disorder of the enteric nervous system (ENS) and is characterized by the absence of intesti- nal ganglion cells in myenteric and submucosal ...are ... See full document
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Original Article Differential expressions of BMPR1α, ACTN4α and FABP7 in Hirschsprung disease
... stenotic colon segment tissue than that in the normal colon segment tissue in the HSCR patients (Figure 1B). In the mucous layer and muscular layer the quantity of ACTN4α immu- noreactivity showed a regional increase in ... See full document
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Apoptotic neuron-secreted HN12 inhibits cell apoptosis in Hirschsprung's disease
... isoform, plays a possible role in the early development of dementia in DS. As DS is the most common chromosomal abnormality associated with HSCR, it may be suggested naturally that HN12 plays a role in HSCR. Our ... See full document
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Key words
... significantly associated with HSCR ...inversely associated with the frequencies of the 2071A and 2712G alleles [20, ...Hirschsprung’s disease etiology together with 10q11, where the RET gene is ... See full document
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Aberrant UBR4 expressions in Hirschsprung disease patients
... UBR4 has a role in Ca 2+ signaling and is involved in neuronal excitability [12] since it interacts with Ca 2+ bound calmodulin in cytoplasm and acts as a regulator of Ca2+, which is released through ITPR1 [6]. Ca 2+ ... See full document
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HISTORICAL PERSPECTIVE IN DIAGNOSIS, SURGICAL PROCEDURES AND COMPLICATIONS OF HIRSCHSPRUNG DISEASE
... The disease etiology is still uncertain, but evidences propose that the intestinal microbiota may play a sigficantrole in the development of HD and Hirschsprung associated enterocolitis ... See full document
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NRG1 variant effects in patients with Hirschsprung disease
... Methods: We analyzed the entire coding region of the NRG1 gene in 54 histopathologically diagnosed HSCR patients. Results: All patients were sporadic non-syndromic HSCR with 53/54 (98%) short-segment and 1/54 (2%) ... See full document
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Hirschsprung like disease is exacerbated by reduced de novo GMP synthesis
... Finally, these studies demonstrated a profound linkage among basic processes in cell metabolism and specific mammalian ENS developmental defects. This work supports the idea that any stressor that reduces the efficiency ... See full document
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<p><em>miR-100</em> rs1834306 A>G Increases the Risk of Hirschsprung Disease in Southern Chinese Children</p>
... could enhance the expression of RBM24 by competitively binding to miR-143. 11 The similar mechanism may exist between pre-miR-100 and miR-100. We guessed that rs1834306 A>G polymorphism would lead to down- regulated ... See full document
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Hirschsprung disease: current perspectives
... Syndromic Hirschsprung associations include Down syndrome, dominant sensorineural deafness, Waardenburg syndrome, neurofibromatosis, neuroblastoma, pheochromocytoma, the multiple endocrine neoplasia Type II ... See full document
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Aberrant expressions of miRNA-206 target, FN1, in multifactorial Hirschsprung disease
... different pathways synchronizing neurogenesis and gliogenesis is also important for the proper development of ENS and defects in any of these sig- naling elements might result in HSCR [24, ... See full document
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Validation of algorithms to determine incidence of Hirschsprung disease in Ontario, Canada: a population-based study using health administrative data
... The health records of all legal Ontario residents ( > 99% of the population) are contained within anonymized provincial health administrative data, housed at the ICES. Each resident has a unique encrypted IKN based on ... See full document
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Point Mutation in Exon 12 of the Receptor Tyrosine Kinase Proto-oncogene RET in Ondine-Hirschsprung Syndrome
... syndrome associated with Hirsch- sprung’s disease (Ondine-Hirschsprung syndrome) rep- resenting a missense mutation in exon 12 of the receptor tyrosine kinase (RET) proto-oncogene is ... See full document
5
Hirschsprung disease in an adult with intestinal malrotation and volvulus: an exceptional association
... Six months later, the patient was stable, and the stoma had improved the symptoms associated with chronic oc- clusion. She did not have a new episode of acute occlu- sion in the meantime. The patient must now ... See full document
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Genetic variants associated with Crohn's disease
... Crohn’s disease is an immune-related disorder characterized by inflammation of the gastrointestinal mucosa, which can occur in any area throughout the digestive ...life-long disease commonly presents with ... See full document
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AN INTEGRATED APPROACH TOWARDS HIRSCHSPRUNG DISEASE (HD) AND ITS MANAGEMENT.
... Hirschsprung disease (HD) is a disease of the large intestine that causes severe constipation or intestinal obstruction. People with HD are born with it. The large intestine, which includes the colon ... See full document
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Comparative Study of Toluidine Blue Special Stain and Immunohistochemistry in Hirschsprung Disease
... Hirschsprung disease were typed according to presentation confirmed by imaging and ...were Hirschsprung disease, one case as intestinal neuronal dysplasia,8 cases as non Hirschsprung ... See full document
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Original Article Additional criteria in diagnosis of transitional zone in Hirschsprung disease
... Enteric nervous system (ENS) is a part of auto- nomic nervous system that regulates function of the gastrointestinal tract (GIT). It is com- posed of ganglion cells (neurons) and glial cells grouped in ganglia, which are ... See full document
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