Detection and Significance of Serum Protein Marker of Hirschsprung Disease

Wang, Jiaxiang; Qin, Pan; Liu, Qiu-liang; Yang, Heying; Fan, Yun; Yu, Jian; Zheng, Shu

doi:10.1542/peds.2006-1364

Cited by 8 publications

(5 citation statements)

References 20 publications

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“…The most commonly used diagnostic investigations in the diagnosis of HD are contrast enema, anorectal manometry, and biopsy with histology (23). The contrast enema is often the first tool used when physicians think about HD.…”

Section: Discussionmentioning

confidence: 99%

Laboratory Procedures Update on Hirschsprung Disease

Takawira

D’Agostini²,

Shenouda³

et al. 2015

J. pediatr. gastroenterol. nutr.

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Hematoxylin and eosin with or without acetylcholinesterase remains the criterion standard according to our PRISMA-based data. In our opinion, the number of false-positive results with potential overtreatment may limit the increasing advocacy for calretinin staining. Both the "primum non nocere" dictum and the "loss aversion heuristic" need to be satisfied harmoniously by preventing harm from unnecessary surgery.

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Section: Discussionmentioning

confidence: 99%

Laboratory Procedures Update on Hirschsprung Disease

Takawira

D’Agostini²,

Shenouda³

et al. 2015

J. pediatr. gastroenterol. nutr.

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“…The serum biomarkers that are associated with HSCR have been comprehensively studied by another group and are not discussed here (36). The pleiotropic proteins TAGLN,…”

Section: Other Pleiotropic Proteinsmentioning

confidence: 99%

Comparative proteomic profiles of the normal and aganglionic hindgut in human Hirschsprung disease

et al. 2014

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Background: Hirschsprung disease (HSCR) is the third most common congenital disorder of the gastrointestinal tract. This study aims to elucidate changes in protein expression between the normal and aganglionic hindgut in human HSCR. Methods: The biopsies were obtained from the normal and aganglionic hindgut in human HSCR, and the comparative proteomics were analyzed by mass spectrometry (MS)-based two-dimensional gel electrophoresis (2DE). results: A total of 932-986 protein spots were identified in each of the gut segments, among which 30 spots had at least an eightfold difference in volume (%). Of the 30 differentially expressed spots, 15 proteins were identified via sequence analysis. Among these 15 proteins, eight were upregulated and seven were downregulated in the aganglionic group. The well-represented classes included biomarkers of enteric ganglions, extracellular matrix proteins, LIM domain proteins, serum proteins, and other pleiotropic proteins. Five proteins were selected and verified by western blotting and real-time PCR, and the results were consistent with the results of 2DE. conclusion: MS-based 2DE can help to identify pathological relevant proteins in HSCR; it defines an extensive protein catalog of the normal and aganglionic hindgut and may constitute the basis to understand pathophysiological mechanisms related to the HSCR. h irschsprung disease (HSCR) is one of the most common congenital malformations of enteric nervous system (ENS) in children. It is the third most common congenital disorder of the gastrointestinal tract worldwide, and it occurs in 1/5,000 live births (1-3). HSCR is characterized by the absence of ganglion cells in the myenteric and submucosal plexuses of the gastrointestinal tract, resulting in intestinal obstruction and constipation in neonates and children (2). It is caused by an anomalous ENS and is therefore considered to be a neurocristopathy. The ENS is formed from a multipotent progenitor cell population known as the enteric neural crest cells (ENCCs), which are derived from the neuroepithelium. ENCCs migrate over substantial distances to colonize the entire length of the gut, and during their migration, they need to survive, proliferate, and ultimately differentiate. The absence of an ENS from variable lengths of the colon results in HSCR or aganglionosis (3)(4)(5).It is well established that HSCR is a set of complex diseases with extensive molecular genetics bases. HSCR is caused by several factors, and at least 10 different genes and 5 chromosomal loci contribute to its pathogenesis (4-6).Among the genes with the highest expression levels were GDNF, Sox10, GFRα1, and EDNRB. It has been indicated that mutations in these genes lead to long-segment HSCR and syndromic HSCR. Other differentially expressed genes belonging to several different functional categories were also identified. Among the well-represented classes were transcription factors (e.g., Hox, Sox, T-box, and Ets family transcription factors), genes involved in cell adhesion (e.g., cadherins, protocadher...

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“…33 SVM has many unique advantages in analyzing small samples, nonlinear data, and high-dimensional pattern recognition. [34][35][36] In 2013, Kistler et al compared the urinary peptidomes of autosomal dominant polycystic kidney disease (ADPKD) patients to those of healthy controls by capillary electrophoresis coupled to mass spectrometry; 209 peptides were sequenced using tandem mass spectrometry, and then an SVM was established on the basis of the 142 most consistent peptide markers to create a highly specific diagnostic model that is used to detect ADPKD. 37 In 2016, Liu et al used SVM to establish a model for CHD prediction using maternal serum, and its accuracy was 85%.…”

Section: Introductionmentioning

confidence: 99%

“…As an efficient classifier, SVM is a machine learning method based on kernels, which are widely used in classification problems 33 . SVM has many unique advantages in analyzing small samples, nonlinear data, and high‐dimensional pattern recognition 34–36 . In 2013, Kistler et al .…”

Section: Introductionmentioning

confidence: 99%

Complement factors and alpha‐fetoprotein as biomarkers for noninvasive prenatal diagnosis of neural tube defects

Dong

Liú

et al. 2020

Annals of the New York Academy of Sciences

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Neural tube defects (NTDs) are serious congenital malformations. In this study, we aimed to identify more specific and sensitive maternal serum biomarkers for noninvasive NTD screenings. We collected serum from 37 pregnant women carrying fetuses with NTDs and 38 pregnant women carrying normal fetuses. Isobaric tags for relative and absolute quantitation were conducted for differential proteomic analysis, and an enzyme-linked immunosorbent assay was used to validate the results. We then used a support vector machine (SVM) classifier to establish a disease prediction model for NTD diagnosis. We identified 113 differentially expressed proteins; of these, 23 were either upor downregulated 1.5-fold or more, including five complement proteins (C1QA, C1S, C1R, C9, and C3); C3 and C9 were downregulated significantly in NTD groups. The accuracy rate of the SVM model of the complement factors (including C1QA, C1S, and C3) was 62.5%, with 60% sensitivity and 67% specificity, while the accuracy rate of the SVM model of alpha-fetoprotein (AFP, an established biomarker for NTDs) was 62.5%, with 75% sensitivity and 50% specificity. Combination of the complement factor and AFP data resulted in the SVM model accuracy of 75%, and receiver operating characteristic curve analysis showed 75% sensitivity and 75% specificity. These data suggest that a disease prediction model based on combined complement factor and AFP data could serve as a more accurate method of noninvasive prenatal NTD diagnosis.

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Detection and Significance of Serum Protein Marker of Hirschsprung Disease

Cited by 8 publications

References 20 publications

Laboratory Procedures Update on Hirschsprung Disease

Laboratory Procedures Update on Hirschsprung Disease

Comparative proteomic profiles of the normal and aganglionic hindgut in human Hirschsprung disease

Complement factors and alpha‐fetoprotein as biomarkers for noninvasive prenatal diagnosis of neural tube defects

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