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RET single nucleotide polymorphism in Indonesians with sporadic Hirschsprung’s disease Saryono, Saryono; Rochadi, Rochadi; Lestariana, Wiryatun; Artama, Wayan T; Sadewa, Ahmad Hamim
Universa Medicina Vol 29, No 2 (2010)
Publisher : Faculty of Medicine, Trisakti University

Show Abstract | Download Original | Original Source | Check in Google Scholar | DOI: 10.18051/UnivMed.2010.v29.71-77

Abstract

The tyrosine kinase receptor RET, which is the protein product of the RET gene, is involved in the development of the mammalian nervous system that causes Hirschsprung’s disease (HSCR). RETs are cell surface molecules that are expressed in cells derived from the neural crest. The purpose of this study was to investigate the polymorphism of the RET gene in HSCR in the Yogyakarta population. Genomic DNA was extracted from surgically removed bowel tissues of 54 unrelated HSCR patients. Exon 2 of the RET gene was amplified by polymerase chain reaction (PCR) and analyzed by restriction fragment length polymorphism (RFLP). Molecular results were compared with clinical performance of Hirschsprung patients. RET polymorphism was detected in exon 2 in all of the 54 Indonesian HSCR patients. The allelic distribution of the c135GàA polymorphism in the RET exon 2 indicated that the A allele was more frequent in patients than in control individuals (chi-square test, p= 0.001). Thus the RET variant allele A is over-represented in patients affected with the HSCR phenotype. Polymorphism of exon 2 of the RET gene was found in sporadic Hirschsprung’s disease in the Yogyakarta population, which suggests that the RET gene plays important roles in the pathogenesis of HSCR.
Hipoalbuminemia prabedah sebagai faktor prognostik enterokolitis pascabedah penderita megakolon kongenital (Hirschsprung’s disease) Rochadi, Rochadi
Jurnal Gizi Klinik Indonesia Vol 9, No 3 (2013): Januari
Publisher : Minat S2 Gizi dan Kesehatan, Prodi S2 IKM, FK-KMK UGM

Show Abstract | Download Original | Original Source | Check in Google Scholar | Full PDF (151.618 KB) | DOI: 10.22146/ijcn.15443

Abstract

Background: Hirschsprung’s disease or congenital megacolon is the congenital absence of ganglion cells in the colon. The rectum is always involved and in 90% of patients the abnormality is confined to the rectum and sigmoid. Absence of ganglion cells prevents peristalsis, resulting in functional obstruction. The success of Hirschsprung’s treatment depends on many factors such as age at the time of operation, body weight, hemoglobin levels, albumin levels, length of operation, length of stay and other prognostic factors. Post operative enterocolitis and other complications still represent as the problem wich often are faced by pediatric surgeons.Objective: The aim of this study was to evaluate the effect of albumin levels on postoperative enterocolitis in children presenting with congenital megacolon.Method: We conducted an ambidirectional cohort study involving children presenting with Hirschsprung’s disease in Dr. Sardjito, Panti Rapih and Permata Husada hospitals in Yogyakarta city from January 2005 to December 2010. All children had been operated using ERPT and PSNRHD methods. The subjects were classified into normoalbuminemia (>3.5 g/dl) and hypoalbuminemia (≤3.5 g/dl). The effect of albumin levels on postoperative enterocolitis were indicated by relative risk and 95% confidence interval.Results: Out of 104 children with Hirschsprung’s disease, 53 (51%) were hypoalbuminemic and 51 (49%) were normoalbuminemia. Postoperative enterocolitis was found in 18 (17.3%) children, 11/18 (61.1%) of them were hypoalbuminemia, whereas 7/18 (38.9%) were normoalbuminemia. Albumin levels were not significant prognostic factor for postoperative enterocolitis in children with congenital megacolon (RR=1.51; 95% CI:0.64-3.60; p=0.34).     Conclusion: The albumin levels are not prognostic factor for postoperative enterocolitis in children with congenital megacolon. Â