Name – Verma, Jaya

USN – 17004878200
Section – 4B3
Topic - Hirschsprung’s Disease - Integrating Basic Science And
Clinical Medicine To Improve Outcomes
Author – Robert O Heuckeroth

1) Was the basic science discoveries are linked to clinical manifestations of

Hirschsprung disease?
Yes.
 In this Review, basic science discoveries are linked to clinical
manifestations of Hirschsprung disease, including partial penetrance,
enterocolitis and genetics. Insights into disease mechanisms that might lead
to new prevention, diagnostic and treatment strategies are described.

2) Was the age of presentation and the type of symptoms that occur vary
dramatically among patients?
Yes.
Current treatment is surgical resection of the bowel to remove or bypass
regions where the ENS is missing, but many children have problems after
surgery. Although the anatomy of Hirschsprung disease is simple, many
clinical features remain enigmatic, and diagnosis and management remain
challenging. For example, the age of presentation and the type of symptoms
that occur vary dramatically among patients, even though every affected
child has missing neurons in the distal bowel at birth.

3) Is the diagnostic available & if so, does it reflect current practice?

Yes.
Basic science discoveries are linked to clinical manifestations of
Hirschsprung disease, including partial penetrance, enterocolitis and
genetics. Insights into disease mechanisms that might lead to new
prevention, diagnostic and treatment strategies are described. For most
people, Hirschsprung's disease is treated with surgery to bypass or remove
the part of the colon that's lacking nerve cells.

Appraisal of validity
1) Were all participants who entered the study accounted for at its
conclusion?
Yes.
Basic science discoveries are linked to clinical manifestations of
Hirschsprung disease, including partial penetrance, enterocolitis and
genetics.

2) Was the validity of the included study assessed?

Yes.
Insights into disease mechanisms that might lead to new prevention,
diagnostic and treatment strategies are described.

Appraisal of results

1) Do the benefits of the experimental intervention outweigh the harms

& costs?
Yes.

2) Were the treatment & its outcome measured in the article, preferred
by the patient?
Yes.
Many children have problems after surgery. Although the anatomy of
Hirschsprung disease is simple, many clinical features remain
enigmatic, and diagnosis and management remain challenging.