Are We Underdiagnosing Hirschsprung Disease?

Mutations in SCG10 Are Not Involved in Hirschsprung Disease

Hirschsprung disease (HSCR) is a congenital malformation characterized by the absence of enteric neurons in the distal part of the colon. Several genes have been implicated in the development of this disease that together account for 20% of all cases, implying that other genes are involved. Since HSCR is frequently associated with other congenital malformations, the functional characterization ...

Molecular Targets for Endometriosis Therapy: Where We Are and Where We Are Going?

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Title Hirschsprung ' s disease

Reflection for the undergraduate on writing in the portfolio: where are we now and where are we going?

Introduction: The portfolio can be seen as a tool for assessmentof a variety of learning activities that differ in content, usage, andassessment. The portfolio not only meets the learner’s educationalneeds but also the political and public reassurance demand thatthe health professional has achieved the required competency ofthe curriculum that allows him or her to practice safely with orwithout...

Can we stop looking? Immunohistochemistry and the diagnosis of Hirschsprung disease.

The enteric nervous system (ENS) is essential for normal motility and many other physiologic properties of the gastrointestinal tract.1 It is composed of intrinsic neurons, the cell bodies and most processes of which are located inside the bowel wall, and extrinsic nerve fibers that project into the gut from autonomic and sensory ganglia. Although extrinsic innervation modulates the activity of...