Effect of semaphorin 3C gene variants in multifactorial Hirschsprung disease.

Objective: Cluster genes, specifically the class 3 semaphorins () including , have been associated with the development of Hirschsprung disease (HSCR) in Caucasian populations. We aimed to screen for rare and common variants in in Indonesian patients with HSCR.

Methods: In this prospective clinical study, we analyzed gene variants in 55 patients with HSCR through DNA sequencing and bioinformatics analyses.

Histopathological findings for prediction of liver cirrhosis and survival in biliary atresia patients after Kasai procedure.

Background: Without early recognition and Kasai procedure, biliary atresia (BA) results in liver cirrhosis and leads to either transplantation or death at a young age. We aimed to characterize the liver histopathological findings for prediction of cirrhosis and survival in BA patients after Kasai surgery.

Methods: We retrospectively reviewed all histopathological results for BA patients who underwent liver biopsy during Kasai surgery from August 2012 to December 2018 in Dr.

Aberrant Expressions and Variant Screening of in Indonesian Hirschsprung Patients.

The () gene has been implicated in the pathogenesis of Hirschsprung disease (HSCR), a complex genetic disorder characterized by the loss of ganglion cells in varying lengths of gastrointestinal tract. We wished to investigate the role of variants, both rare and common variants, as well as its mRNA expression in Indonesian HSCR patients. Sanger sequencing was performed in 54 HSCR patients to find a pathogenic variant in .

Comparison of pre-operative Hirschsprung-associated enterocolitis using classical criteria and Delphi method: A diagnostic study.

Background: Hirschsprung-associated enterocolitis (HAEC) is the most common complication of Hirschsprung disease (HSCR) that may happen pre-operatively. Several methods have been reported to determine HAEC. Because the diagnosis of pre-operative HAEC might change the surgical plan, we aimed to determine the accuracy of the classical criteria for diagnosis of pre-operative HAEC and using the Delphi method as a gold standard.