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The HSCR is part of an ambitious primary prevention approach to address housing instability; however, the existence of the HSCR alone is insufficient to improve housing stability.
Because of the latter observation, Meier-Ruge insists that diagnostic biopsies be obtained 8 to 10 cm proximal to the dentate line,13 which is much farther from the anus than the typical biopsy used to rule out HSCR.
HSCR is caused by defects in the development of ENS that is derived from vagal and sacral neural crest [15,101].
Our previous studies found that neurexin and neuroligin are both expressed in the ENS and their significantly downregulated expression in HSCR may be involved in their pathogenesis.
The most common and most severe complication of HSCR is Hirschsprung's-associated enterocolitis (HAEC).
Based on a three-spiral design, it's said to ensure optimal melt flow for a wide range of thickness ratios and to represent a major milestone for the production of large-diameter, multi-layer pipes using HSCR materials.
Patients with HSCR-MEN co-segregation were identified as part of a separate study of RET in HSCR. (17)
It is not always easy to offer biological evidence of alteration of the RET function for a large number of RET mutations in HSCR patients.
Diagnosis of HSCR disease was made and the patient was taken to the operating room on the next day.
We have demonstrated (5) that variants of two RET promoter polymorphisms, -5G>A (rs10900296) and -1C>A (rs10900297), from the transcription start site are associated with HSCR and that the -5G>A polymorphism is in strong linkage disequilibrium with the c.135G>A polymorphism.
HSCR has a complex genetic etiology, with many studies indicating the receptor tyrosine kinase gene (RET) as the major susceptibility gene for HSCR (1-14).
Since its identification in 1993 and 1994 as the (or, at least, a) major gene responsible for multiple endocrine neoplasia types 2A and 2B (MEN 2A, MEN 2B) and Hirschsprung disease (HSCR), respectively, the RET receptor tyrosine kinase (1) has provided a real-time case study of some of the more vexing aspects of both the detection and interpretation of mutations [2-7].
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