Controlled outcome of Hirschsprung’s disease beyond adolescence: a single center experience

Gustafson, Elisabet; Larsson, Therese; Danielson, Johan

doi:10.1007/s00383-018-4391-5

Cited by 17 publications

(18 citation statements)

References 19 publications

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“…The newborn thus fails to pass meconium in the first 24 hours. The routine treatment in Hirschsprung's disease is the removal of the aganglionic segment, but as a late outcome of this life-saving procedure patients must deal with bowel disorders that result in reduced bowel-related quality of life during adulthood (Gustafson et al, 2019).…”

Section: Transmittermentioning

confidence: 99%

The enteric nervous system: “A little brain in the gut”

Annaházi

Schemann²

2020

Neuroforum

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AbstractThe gut’s own autonomous nervous system, the enteric nervous system (ENS), has fascinated scientists for more than 100 years. It functions, in the true sense of the word, autonomously, by performing complex tasks and controlling vital functions independently of extrinsic inputs. At the same time, the ENS is bombarded with signals from other cells in the gut wall and lumen and has to integrate all of these inputs. We describe the main functions of the ENS under physiological conditions and give a few examples of its role in gut diseases. The ENS has received increasing attention recently as scientists outside the field of Neurogastroenterology realize its important role in the pathogenesis of Parkinson’s, autism and multiple sclerosis.

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Section: Transmittermentioning

confidence: 99%

The enteric nervous system: “A little brain in the gut”

Annaházi

Schemann²

2020

Neuroforum

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“…People are actively exploring the intestinal nerve stem cell transplantation technology to improve the prognosis of HSCR, but the progress has been slow. 4,5 Genetic factors play an important role in the pathogenesis and prognosis of HSCR. Any genes affecting cell proliferation, differentiation and migration may cause HSCR.…”

Section: Introductionmentioning

confidence: 99%

<p><em>miR-100</em> rs1834306 A>G Increases the Risk of Hirschsprung Disease in Southern Chinese Children</p>

Zhu¹,

Ao²,

Zheng³

et al. 2020

PGPM

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Background: Hirschsprung disease (HSCR) is a rare congenital gastrointestinal disease characterized by the absence of intestinal submucosal and myometrial ganglion cells. Recently, researches indicated that miR-100 regulated the growth, differentiation and apoptosis of neurons, and affected the functions of HSCR-associated pathways. While miR-100 rs1834306 A>G polymorphism was shown to modify the susceptibility to tumors, the association between this polymorphism and HSCR susceptibility is still unknown. Methods: This was a case-control study consisting of 1470 HSCR cases and 1473 controls from southern China. DNA was genotyped by TaqMan real-time PCR. Odds ratios (ORs) and 95% confidence intervals (CIs) were used as statistical indicators. Results: We found that miR-100 rs1834306 G allele and GG genotype significantly increased HSCR susceptibility (GG vs AA: adjusted OR=1.31, 95% CI=1.04-1.64, P=0.020; G vs A: adjusted OR=1.12, 95% CI=1.01-1.25, P=0.041; GG vs AA/AG: adjusted OR=1.30, 95% CI=1.07-1.59, P=0.010). In the stratified analysis, miR-100 rs1834306 GG genotype carriers had higher risk to develop HSCR in all clinical subtypes when compared with those with AA/AG genotypes, and OR was rising with HSCR aggravation (SHSCR: adjusted OR=1.28, 95% CI=1.03-1.59, P=0.029; LHSCR: adjusted OR=1.48, 95% CI=1.06-2.07, P=0.020; TCA: adjusted OR=2.12, 95% CI=1.22-3.69, P=0.008). Conclusion: Our findings suggested that miR-100 rs1834306 A>G polymorphism was associated with increased HSCR susceptibility in southern Chinese children. Furthermore, miR-100 rs1834306 GG genotype had a greater genetic pathopoiesis in severe HSCR.

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“…Persistent constipation, chronic abdominal distension, loss of appetite and failure to thrive are common symptoms in older children [5]. Timely surgical treatment to remove the affected bowel segment can save most patients’ lives, but obvious postoperative complications, such as fecal incontinence, constipation, repeated enterocolitis, nutrition disorder and so on [7], could bring the patients and their families severe economic burden and great psychological pressure [8], which might affect their quality of life in adulthood [9,10]. Even more, severe complications like HSCR-related short bowel syndrome could also kill the patients after surgery [11].…”

Section: Introductionmentioning

confidence: 99%

Associations ofSLC6A20genetic polymorphisms with Hirschsprung’s disease in a Southern Chinese population

Xie

Huang

et al. 2019

Bioscience Reports

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Hirschsprung’s disease (HSCR) is a neurodevelopmental disorder characterized by the absence of nerves in intestine with strong genetic components. SLC6A20 was found to be associated with HSCR in Korean population waiting for replication in an independent cohort. In the present study, ten single nucleotide polymorphisms (SNPs) in the SLC6A20 were selected from Southern Chinese with 1470 HSCR cases and 1473 ethnically matched healthy controls. Our results indicated that SNP rs7640009 was associated with HSCR and SLC6A20 has a gene–dose effect in the extent of the aganglionic segment during enteric nervous system (ENS) development. It is the first time to reveal the relationship between SNP rs2191026 and HSCR-associated enterocolitis (HAEC) susceptibility.

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Controlled outcome of Hirschsprung’s disease beyond adolescence: a single center experience

Cited by 17 publications

References 19 publications

The enteric nervous system: “A little brain in the gut”

The enteric nervous system: “A little brain in the gut”

<p><em>miR-100</em> rs1834306 A>G Increases the Risk of Hirschsprung Disease in Southern Chinese Children</p>

Associations ofSLC6A20genetic polymorphisms with Hirschsprung’s disease in a Southern Chinese population

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