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Related Concept Videos

Huntington Disease l: Introduction01:21

Huntington Disease l: Introduction

Huntington disease or HD is a progressive, fatal neurodegenerative disorder inherited in an autosomal dominant pattern.PathophysiologyIt is caused by expansion of the CAG trinucleotide repeat in the HTT gene on chromosome 4 (4p16.3), producing an abnormal huntingtin protein with an expanded polyglutamine tract. This misfolded protein disrupts cellular function, leading to neuronal death. Normal alleles have ≤26 repeats, 27–35 are intermediate (risk of expansion), 36–39 show reduced penetrance,...
Bone Marrow Sampling and Transplants01:22

Bone Marrow Sampling and Transplants

Bone marrow transplant is a potential cure for several diseases, including cancer and specific genetic disorders. Notably, this procedure is applicable for patients suffering from aplastic anemia, certain types of leukemia, severe combined immunodeficiency disease (SCID), Hodgkin's disease, non-Hodgkin's lymphoma, multiple myeloma, thalassemia, sickle-cell disease, and certain cancers.
The transplant begins with high doses of chemotherapy and radiation treatment, which aim to destroy the...

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Related Experiment Video

Updated: Jun 5, 2026

Diagnosis of Hirschsprung's Disease by Immunostaining Rectal Suction Biopsies for Calretinin, S100 Protein and Protein Gene Product 9.5
05:45

Diagnosis of Hirschsprung's Disease by Immunostaining Rectal Suction Biopsies for Calretinin, S100 Protein and Protein Gene Product 9.5

Published on: April 26, 2019

Hirschsprung's disease: what about mortality?

Alessio Pini Prato1, Valentina Rossi, Stefano Avanzini

  • 1Department of Pediatric Surgery, Giannina Gaslini Institute, Largo G. Gaslini, 5, 16148, Genoa, Italy. alessiopiniprato@ospedale-gaslini.ge.it

Pediatric Surgery International
|January 22, 2011
PubMed
Summary

Mortality in Hirschsprung

Area of Science:

  • Pediatric Surgery
  • Gastroenterology
  • Clinical Genetics

Background:

  • Hirschsprung's disease (HSCR) presents a significant, though decreasing, mortality rate.
  • Understanding risk factors is crucial for improving outcomes in HSCR patients.

Purpose of the Study:

  • To review features of deceased Hirschsprung's disease patients (1993-2010).
  • To identify potential risk factors and prevention strategies for HSCR mortality.

Main Methods:

  • Retrospective review of 313 HSCR patients treated between 1993 and 2010.
  • Analysis of demographic data, associated anomalies, onset, death causes, and treatment timelines.
  • Family interviews to record any unrecorded deaths.

Main Results:

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Last Updated: Jun 5, 2026

Diagnosis of Hirschsprung's Disease by Immunostaining Rectal Suction Biopsies for Calretinin, S100 Protein and Protein Gene Product 9.5
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  • Mortality rate was 2.56% (8/313 patients).
  • Associated anomalies (cardiac, renal, CNS) were present in 5 patients.
  • Common causes of death included enterocolitis (4), heart failure (3), and intestinal failure (1).

Conclusions:

  • Neonatal and infant mortality is linked to associated cardiovascular malformations.
  • Prophylactic stomas may benefit high-risk patients, but early radical treatment (pull-through) is recommended.
  • Close follow-up and family education are vital for managing complications.