The impact of down-regulated SK3 expressions on Hirschsprung disease

Gunadi, Gunadi; Sunardi, Mukhamad; Budi, Nova Yuli Prasetyo; Kalim, Alvin Santoso; Iskandar, Kristy; Dwihantoro, Andi

doi:10.1186/s12881-018-0539-3

Cited by 7 publications

(11 citation statements)

References 22 publications

(42 reference statements)

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“…Diagnosis of HSCR in our hospital was established according to the clinical manifestation, contrast enema, and histopathology findings. The pathologist utilized the hematoxylin and eosin staining and/or S100 immunohistochemistry for the histopathology diagnosis of HSCR [ 11 – 16 ].…”

Section: Methodsmentioning

confidence: 99%

Functional outcomes in Hirschsprung disease patients after transabdominal Soave and Duhamel procedures

et al. 2018

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BackgroundSeveral pull-through procedures have been described for Hirschsprung disease (HSCR) with varying functional outcomes. The voluntary bowel movement (VBM) and the absence of soiling or constipation after pull-through remain the most important markers of good outcome. We aimed to compare the functional outcomes in HSCR patients following Soave and Duhamel procedures.MethodsKrickenbeck classification was utilized to determine VBM, soiling and constipation for patients who underwent Soave and Duhamel pull-through at Dr. Sardjito Hospital, Indonesia from 2013 to 2016.ResultsFifty-three patients were ascertained (Soave: 23 males and 2 females vs. Duhamel: 22 males and 6 females, p = 0.26). Ninety-three and 88% patients had a VBM following Duhamel and Soave pull-through, respectively (p = 0.66). Constipation frequency was significantly higher in Soave than Duhamel groups (24% vs. 4%; p = 0.04) with OR of 8.5 (95% CI = 1.0–76.7), whereas soiling rate was similar between Duhamel (21%) and Soave (8%) groups (p = 0.26). Furthermore, the risk of constipation was increased ~ 21.7-fold in female patients after Soave procedure and was almost statistically significant (p = 0.05).ConclusionsThe constipation rate is higher in patients who underwent Soave than Duhamel procedure, but the VBM and soiling frequencies are similar. The constipation risk following Soave pull-through might be increased by the female gender. Furthermore, a multicenter study with a larger sample of patients is necessary to clarify and confirm our findings.

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Section: Methodsmentioning

confidence: 99%

Functional outcomes in Hirschsprung disease patients after transabdominal Soave and Duhamel procedures

et al. 2018

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“…This study was conducted at Dr. Sardjito Hospital, a referral and academic hospital in Yogyakarta, Indonesia. All children with the age of < 18 years old with diagnosis of HSCR according to clinical findings, contrast enema and histopathology were involved in this study, except those that had low quality of total RNA [4, 5, 10–12].…”

Section: Methodsmentioning

confidence: 99%

“…The ganglionic and aganglionic colon of HSCR patients were collected at definitive surgery, while the control colon samples were obtained at stoma closure from anorectal malformation patients [12].…”

Section: Methodsmentioning

confidence: 99%

“…The hsa-miRNA-206 and U6 snRNA primers were 5’-ACGAGTTTAGAGCCGGATAGCCACACAC-3′ (RT), 5’-TGACGAGTTTAGAGCCGGATAG-3′ (forward), and 5’-GCGTTGTCTGGAATGTAAGGAAGT -3′ (reverse); and 5’-CTCGCTTCGGCAGCACA-3′ (forward) and 5’-AACGCTTCACGAATTTGCGT-3′ (reverse), respectively [13], while the primer sequence for FN1 , SDPR , PAX3 , and GAPDH were 5′-CAAGCCAGATGTCAGAAGC-3′ (forward) and 5′-GGATGGTGCATCAATGGCA-3′ (reverse); 5′-AGTCACGGTGCTCACGCTCC-3′ (forward) and 5′- GTTGCTGGTGGAGGCCTGGT-3′ (reverse); 5'-ACCACCTTCACAGCAGAACA-3' (forward) and 5'-CAGCTTGCTTCCTCCATCTT-3' (reverse); and 5′-GCACCGTCAAGGCTGAGAAC-3′ (forward) and 5′-TGGTGAAGACGCCAGTGGA-3′ (reverse), respectively [12, 14–17].…”

Section: Methodsmentioning

confidence: 99%

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Aberrant expressions of miRNA-206 target, FN1, in multifactorial Hirschsprung disease

Gunadi

Budi

Kalim

et al. 2019

Orphanet J Rare Dis

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BackgroundMicroRNAs (miRNAs) have been associated with the Hirschsprung disease (HSCR) pathogenesis, however, the findings are still inconclusive. We aimed to investigate the effect of miRNA-206 and its targets, fibronectin 1 (FN1), serum deprivation response (SDPR), and paired box 3 (PAX3) expressions on multifactorial HSCR in Indonesia, a genetically distinct group within Asia.MethodsWe determined the miRNA-206, FN1, SDPR and PAX3 expressions in both the ganglionic and aganglionic colon of HSCR patients and control colon by quantitative real-time polymerase chain reaction (qRT-PCR).ResultsTwenty-one sporadic HSCR patients and thirteen controls were ascertained in this study. The miRNA-206 expression was up-regulated (2-fold) in the ganglionic colon and down-regulated (0.5-fold) in the aganglionic colon compared to the control group (ΔCT 12.4 ± 3.0 vs. 14.1 ± 3.9 vs. 13.1 ± 2.7), but these differences did not reach significant levels (p = 0.48 and p = 0.46, respectively). Interestingly, the FN1 expression was significantly increased in both the ganglionic (38-fold) and aganglionic colon (18-fold) groups compared to the control group ΔCT 5.7 ± 3.0 vs. 6.8 ± 2.3 vs. 11.0 ± 5.0; p = 0.001 and p = 0.038, respectively). Furthermore, the expressions of SDPR were similar in the ganglionic, aganglionic and control colon groups (ΔCT 2.4 ± 0.6 vs. 2.2 ± 0.4 vs. 2.1 ± 0.6; p = 0.16 and p = 0.39, respectively), while no change was observed in the PAX3 expression between the ganglionic, aganglionic, and control colon groups (ΔCT 3.8 ± 0.8 vs. 4.1 ± 0.8 vs. 3.7 ± 1.1; p = 0.83 and p = 0.44, respectively).ConclusionOur study is the first report of aberrant FN1 expressions in the colon of patients with HSCR and supplies further insights into the contribution of aberrant FN1 expression in the HSCR pathogenesis.

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“…We involved HSCR patients who underwent pull-through from December 2014 until May 2019 at Dr. Sardjito Hospital, Indonesia [9]. Their parents gave a signed informed consent before joining the study.…”

Section: Methodsmentioning

confidence: 99%

Aberrant UBR4 expressions in Hirschsprung disease patients

et al. 2019

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BackgroundRecently, pathogenic alleles within ubiquitin N-recognin domain-containing E3 ligase 4 (UBR4) gene have been shown to be associated with Hirschsprung disease (HSCR). We determined the UBR4 expressions in Indonesian HSCR patients.MethodsWe analyzed the UBR4 expressions in the colons of HSCR patient and anorectal malformation (ARM) patient as control by real-time polymerase chain reaction (qPCR).ResultsThirty-seven patients with non-syndromic HSCR and eighteen controls were involved in this study. qPCR revealed that the UBR4 expression was strongly decreased (0.77-fold) in the ganglionic group of patients with HSCR compared to the control group with ARM (ΔCT 2.43 ± 0.36 vs. 2.05 ± 0.69; p = 0.009), whereas the UBR4 expression was also significantly reduced (0.79-fold) in the aganglionic group of patients with HSCR compared to the control group with ARM (ΔCT 2.39 ± 0.46 vs. 2.05 ± 0.69; p = 0.044). However, the UBR4 expression change was not associated with gender (p = 0.35 and 0.80), nor with degree of aganglionosis both in ganglionic and aganglionic colons (p = 0.72 and 0.73), respectively.ConclusionOur study demonstrates that expression of UBR4 is decreased in both aganglionic and ganglionic colon of HSCR patients.

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The impact of down-regulated SK3 expressions on Hirschsprung disease

Cited by 7 publications

References 22 publications

Functional outcomes in Hirschsprung disease patients after transabdominal Soave and Duhamel procedures

Functional outcomes in Hirschsprung disease patients after transabdominal Soave and Duhamel procedures

Aberrant expressions of miRNA-206 target, FN1, in multifactorial Hirschsprung disease

Aberrant UBR4 expressions in Hirschsprung disease patients

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