Accuracy of colonic mucosal patterns at contrast enema for diagnosis of Hirschsprung disease
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DOI: 10.1007/s00247-020-04631-2
Abstract: Background Various patterns of colonic mucosal irregularity have been recorded on contrast enema, each with individually very low sensitivity, but high specificity. Objective To assess the accuracy of the radiologic features of Hirschsprung disease utilising… read more here.
Keywords: colonic mucosal; hirschsprung disease; mucosal; mucosal irregularity ... See more keywords
Hirschsprung’s disease in twins: a systematic review and meta-analysis
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DOI: 10.1007/s00383-017-4110-7
Abstract: Aim of the studyHirschsprung’s disease (HSCR) is known to occur in families. The reported overall incidence of familial cases is 7.6%, with a higher incidence of 15–21% in total colonic aganglionosis and 50% in the… read more here.
Keywords: analysis; hirschsprung disease; disease; disease twins ... See more keywords
Sensory innervation of the anal canal and anorectal line in Hirschsprung’s disease: histological evidence from mouse models
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DOI: 10.1007/s00383-017-4112-5
Abstract: AimWe used non-Hirschsprung’s disease (HD) Sox10-Venus Transgenic mice (non-HDSV-mice), an endothelin receptor-B knockout mouse model of HD (HD-mice), and C57B6C3 wild controls (C-mice) to identify the correlation between the anorectal line (ARL) and successful transanal… read more here.
Keywords: sensory innervation; microscopy; hirschsprung disease; non hdsv ... See more keywords
Altered expression of caveolin-1 in the colon of patients with Hirschsprung’s disease
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DOI: 10.1007/s00383-019-04505-1
Abstract: The pathogenesis of Hirschsprung’s disease-associated enterocolitis (HAEC) is unclear. Caveolin-1 (Cav-1) regulates the functions of different nitric oxide synthase (NOS) isoforms, which play critical roles in inflammation and intestinal epithelial barrier function. We designed this… read more here.
Keywords: microscopy; patients hirschsprung; hirschsprung disease; expression ... See more keywords
Totally robotic soave pull-through procedure for Hirschsprung’s disease: lessons learned from 11 consecutive pediatric patients
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DOI: 10.1007/s00383-019-04593-z
Abstract: Introduction Since Hirschsprung’s disease (HSCR) already proved to benefit from robotic surgery, we aimed at describing a wider series of patients with this rare disease who were operated on with a robotic approach. Patients and… read more here.
Keywords: robotic soave; hirschsprung disease; disease; totally robotic ... See more keywords
The overall risk of malignancies is not increased in patients with Hirschsprung disease
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DOI: 10.1007/s00383-020-04631-1
Abstract: Purpose Hirschsprung disease (HSCR) has previously been associated with increased risk of medullary thyroid cancer. The aim of this study was to assess the overall risk of malignancies in patients with Hirschsprung disease in a… read more here.
Keywords: risk; risk malignancies; patients hirschsprung; hirschsprung disease ... See more keywords
Post-operative enterocolitis in Hirschsprung’s disease: response to a Letter to the Editor
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DOI: 10.1007/s00383-021-04866-6
Abstract: We appreciate the author’s comments and discussion points in the letter to the Editor article regarding standardization of management of Hirschsprung associated enterocolitis (HAEC) [1]. The author brings up an interesting pathologic perspective on the… read more here.
Keywords: management; enterocolitis; hirschsprung disease; letter editor ... See more keywords
Evaluation of diagnostic factors used to refer children with constipation for rectal biopsies
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DOI: 10.1007/s00384-021-04069-4
Abstract: Children with constipation and suspected Hirschsprung’s disease are referred for rectal biopsy. Since this is an invasive procedure, appropriate indications should be applied to minimize the number of “unnecessary” biopsies. We reviewed all constipated children… read more here.
Keywords: hirschsprung disease; disease; rectal biopsy; children constipation ... See more keywords
Increased Fibronectin Impairs the Function of Excitatory/Inhibitory Synapses in Hirschsprung Disease
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DOI: 10.1007/s10571-019-00759-4
Abstract: Although approximately 50% of cases have a known genetic defect, the precise pathogenesis of Hirschsprung disease (HSCR) is still unclear. We recently reported that expression of fibronectin (FN), which is involved in the migration, colonization,… read more here.
Keywords: etiology; excitatory; hirschsprung disease; excitatory inhibitory ... See more keywords
Potential association between ITPKC genetic variations and Hirschsprung disease
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DOI: 10.1007/s11033-017-4111-6
Abstract: Hirschsprung disease (HSCR) is a congenital and complex disorder characterized by intestinal obstruction due to the absence of enteric neurons along variable lengths of the hindgut. Our recent genome-wide association study (GWAS) has revealed regional… read more here.
Keywords: hirschsprung disease; association; potential association; itpkc ... See more keywords
Prevalence, Risk Factors, and Prognosis of Postoperative Complications after Surgery for Hirschsprung Disease
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DOI: 10.1007/s11605-017-3596-6
Abstract: BackgroundAlthough most of patients do well after surgery for Hirschsprung disease (HSCR), there are complications in some instances that impact social aspects and quality of life. The aim of this study was to explore the… read more here.
Keywords: surgery hirschsprung; risk; hirschsprung disease; risk factors ... See more keywords