Dp71 and intellectual disability in Indonesian patients with Duchenne muscular dystrophy.

Introductions: Duchenne muscular dystrophy (DMD) is an X-linked recessive progressive muscular disease marked by developmental delays due to mutations in the DMD gene, which encodes dystrophin. Brain comorbidity adds to the burden of limited mobility and significantly impacts patients' quality of life and their family. The changes of expression of dystrophin isoforms in the brain due to DMD gene mutations are thought to be related to the cognitive and neurobehavior profiles of DMD.

Functional outcomes of patients with short-segment Hirschsprung disease after transanal endorectal pull-through.

Background: Transanal endorectal pull-through (TEPT) is considered the most preferable treatment method for Hirschsprung disease (HSCR) since it is less invasive and has fewer morbidities than transabdominal pull-through. Here, functional outcomes in short-segment HSCR patients after TEPT were assessed and associated with the prognostic factors.

Methods: Krickenbeck classification was used to assess the functional outcomes in patients with HSCR after TEPT surgery at our institution from 2012 to 2020.