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All Journal Syntax Literate: Jurnal Ilmiah Indonesia MAHESA : Malahayati Health Student Journal
Soenjoto, Dadik Agus
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Tubular Colonic Duplication with Anorectal Malformation Recto-Vestibular Fistula: A Case Report Fitriansyah, Muhammad Noor; Sanden, Ken; Soenjoto, Dadik Agus
Syntax Literate Jurnal Ilmiah Indonesia
Publisher : Syntax Corporation

Show Abstract | Download Original | Original Source | Check in Google Scholar | DOI: 10.36418/syntax-literate.v10i3.57943

Abstract

Anorectal malformations associated with colonic duplications are a rare condition. Double terminations of tubular colonic duplication with Anorectal Malformation are even rarer. Colonic duplication may have different presentations according to its location and size and incidence of less than 15% of all gastrointestinal duplications. These cases also illustrate the diagnostic challenge and variable presentation of colonic duplications in female patients with recto-vestibular fistula. This report aims to present and analyse the clinical presentation, diagnostic approach, and management of anorectal malformations associated with colonic duplications highlighting the challenges and treatment strategies for such a rare case. Case Presentation: We present the case of an 11-month-old female referred from a network hospital with a history of stool leakage from genital, status post diverting colostomy at age of 4 month and was referred to our center for further evaluation and treatment. During the procedure of diverting colostomy, colonic duplication was identified at the colostomy site. Further radiographic evaluation and exploratory laparotomy with complete resection of the colonic duplication was performed. Conclusion: Colonic duplication is a rare congenital disorder, with an even rarer association with anorectal abnormalities. This condition presents with diverse clinical manifestations, necessitating a thorough preoperative differential diagnosis. Surgical intervention remains the treatment of choice, with complete resection being the preferred approach for cystic, diverticular, and short tubular duplications. However, total colon duplications may require alternative management strategies.
Analysis of Ednrb Gene Expression From Blood Samples Using Pcr As a Non-Invasive Biomarker for Early Detection and Severity Assessment of Hirschsprung Disease at Abdul Wahab Sjahranie Hospital, East Kalimantan Pujakelana, Pancoro; Yadi, Yadi; Soenjoto, Dadik Agus
MAHESA : Malahayati Health Student Journal Vol 6, No 6 (2026): Volume 6 Nomor 6 (2026)
Publisher : Universitas Malahayati

Show Abstract | Download Original | Original Source | Check in Google Scholar | DOI: 10.33024/mahesa.v6i6.23414

Abstract

ABSTRACT This study aimed to analyze the expression of the Endothelin Receptor Type B (EDNRB) gene from peripheral blood samples of patients with Hirschsprung disease (HSCR) using the Polymerase Chain Reaction (PCR) method and to evaluate its potential as a non-invasive biomarker for early detection and clinical severity assessment. A case-control study was conducted at Abdul Wahab Sjahranie Hospital, Samarinda, East Kalimantan. Peripheral blood samples were collected from HSCR patients and healthy controls. Total RNA was extracted and complementary DNA synthesized, followed by quantitative PCR to measure EDNRB gene expression. The relative expression levels were calculated using the RQ method, and statistical analyses were performed to evaluate differences between groups and correlations with clinical severity. The expression of the EDNRB gene was significantly lower in HSCR patients compared to healthy controls (p 0.05). Receiver operating characteristic (ROC) analysis demonstrated a moderate diagnostic performance with a sensitivity of 62.5% and specificity of 70.6%. Furthermore, reduced EDNRB expression was associated with higher disease severity, although this correlation did not reach statistical significance. The findings suggest that EDNRB gene expression analysis from blood samples using PCR has potential as a non-invasive biomarker to support early detection of Hirschsprung disease and provide insights into its pathogenesis. However, further studies with larger sample sizes are required to confirm its utility in severity assessment.  Keywords: Hirschsprung Disease, Endothelin B Receptors, Polymerase Chain Reaction, Biomarkers, Genetic, Early Detection of Cancer.
Co-Authors Fitriansyah, Muhammad Noor Pujakelana, Pancoro Sanden, Ken Yadi, Yadi