Hirschsprung’s disease in twins: a systematic review and meta-analysis
Sign Up to like & getrecommendations! Published in 2017 at "Pediatric Surgery International"
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
Totally robotic soave pull-through procedure for Hirschsprung’s disease: lessons learned from 11 consecutive pediatric patients
Sign Up to like & getrecommendations! Published in 2019 at "Pediatric Surgery International"
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
Downregulation of miR-140-5p affects the pathogenesis of HSCR by targeting EGR2
Sign Up to like & getrecommendations! Published in 2020 at "Pediatric Surgery International"
DOI: 10.1007/s00383-020-04686-0
Abstract: Background/aims Hirschsprung's disease (HSCR) is the most common digestive disease caused by disorders of neural crest development. Despite the known involvement of miR-140-5p in many human diseases, its biological role in Hirschsprung’s disease (HSCR) remains… read more here.
Keywords: pathogenesis hscr; targeting egr2; hscr; mir 140 ... See more keywords
Potential association between ITPKC genetic variations and Hirschsprung disease
Sign Up to like & getrecommendations! Published in 2017 at "Molecular Biology Reports"
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
Screening for Housing Instability: Providers’ Reflections on Addressing a Social Determinant of Health
Sign Up to like & getrecommendations! Published in 2019 at "Journal of General Internal Medicine"
DOI: 10.1007/s11606-019-04895-x
Abstract: BackgroundThe Veterans Health Administration (VHA) has a long history of addressing social determinants of health, including housing. In 2012, the VA integrated a two-question Homelessness Screening Clinical Reminder (HSCR) into the electronic medical record in… read more here.
Keywords: addressing social; housing; housing instability; hscr ... See more keywords
Lack of Mucosal Cholinergic Innervation Is Associated With Increased Risk of Enterocolitis in Hirschsprung’s Disease
Sign Up to like & getrecommendations! Published in 2021 at "Cellular and Molecular Gastroenterology and Hepatology"
DOI: 10.1016/j.jcmgh.2021.03.004
Abstract: Background & Aims Hirschsprung’s disease (HSCR) is a congenital intestinal motility disorder defined by the absence of enteric neuronal cells (ganglia) in the distal gut. The development of HSCR-associated enterocolitis remains a life-threatening complication. Absence… read more here.
Keywords: hirschsprung disease; mucosal; tissue; innervation ... See more keywords
Serum Metabolomic Signatures of Hirschsprung's Disease Based on GC-MS and LC-MS.
Sign Up to like & getrecommendations! Published in 2023 at "Journal of proteome research"
DOI: 10.1021/acs.jproteome.3c00008
Abstract: Hirschsprung's disease (HSCR) is a congenital digestive tract malformation characterized by the absence of intramural ganglion cells in the myenteric and submucosal plexuses along variable lengths of the gastrointestinal tract. Although the improvement of surgical… read more here.
Keywords: signatures hirschsprung; serum metabolomic; metabolomic signatures; hirschsprung disease ... See more keywords
Hirschsprung’s disease: key microRNAs and target genes
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DOI: 10.1038/s41390-021-01872-1
Abstract: This study aimed to identify key microRNAs (miRNAs), pathways, and target genes mediating Hirschsprung’s disease (HSCR) pathogenesis and identify the diagnostic potential of miRNAs. The Gene Expression Omnibus database and reverse transcription-quantitative PCR were used… read more here.
Keywords: target genes; hsa mir; hscr; mir ... See more keywords
BACE2 variant identified from HSCR patient causes AD-like phenotypes in hPSC-derived brain organoids
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DOI: 10.1038/s41420-022-00845-5
Abstract: β-site APP-cleaving enzyme 2 (BACE2) is a homolog of BACE1, which is considered as the most promising therapeutic target for Alzheimer’s disease (AD). However, the expression and functional role of BACE2 in central nervous system… read more here.
Keywords: hscr; bace2; derived brain; brain organoids ... See more keywords
Automatic ganglion cell detection for improving the efficiency and accuracy of hirschprung disease diagnosis
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DOI: 10.1038/s41598-021-82869-y
Abstract: Histopathologic diagnosis of Hirschsprung's disease (HSCR) is time consuming and requires expertise. The use of artificial intelligence (AI) in digital pathology is actively researched and may improve the diagnosis of HSCR. The purpose of this… read more here.
Keywords: diagnosis; disease; pathology; accuracy ... See more keywords
Copy number variations in candidate genomic regions confirm genetic heterogeneity and parental bias in Hirschsprung disease
Sign Up to like & getrecommendations! Published in 2019 at "Orphanet Journal of Rare Diseases"
DOI: 10.1186/s13023-019-1205-3
Abstract: BackgroundHirschsprung Disease (HSCR) is a congenital defect of the intestinal innervations characterized by complex inheritance. Many susceptibility genes including RET, the major HSCR gene, and several linked regions and associated loci have been shown to… read more here.
Keywords: copy number; genetic heterogeneity; genomic regions; number variations ... See more keywords