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Whole Exome Sequencing Across Clinical Specialties Within A Medical Center

MOLECULAR GENETICS AND METABOLISM(2021)

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摘要
The objective of this study was to determine the correlation of reported symptom improvement in laryngopharyngeal reflux (LPR) with physical findings on laryngoscopic examination following medical therapy.This IRB-approved, retrospective, single-institution study included all patients who were diagnosed and medically treated for LPR from Jan. 1, 2015-October 21st, 2019. Only patients who received at least six weeks of treatment with a proton pump inhibitor and those with pre- and post-treatment Reflux Symptom Index; RSI (n = 91) and Reflux Finding Score; RFS (n = 33) were included in the study.A total of 91 patients were included in the analysis (61.54% female). There was a 19.99% improvement in total RSI (p = 0.0034) and a 25.20% improvement in total RFS (p = 0.0011) following at least six weeks of treatment (average = 253 ± 213 SD days). RSI symptoms were significantly decreased between pre- and post-treatment for hoarseness (p = 0.0005), clearing of the throat (p = 0.0066), excess throat mucus or postnasal drip (p = 0.0004), troublesome cough (p = 0.0231), and heartburn/chest pain (p = 0.0053). RFS demonstrated a statistically significant decrease in only subglottic edema (p < 0.0001) and ventricular obliteration (p = 0.0295). Pearson's correlation test did not demonstrate a relationship between RSI and RFS in the pre- and post-treatment analyses alone, but did demonstrate a statistically significant relationship when analyzed across all captured pre and post data (r = 0.265, p = 0.006).RSI and RFS are complimentary to one another when assessing for treatment response, but improvement in RSI does not correlate with that in RFS.
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关键词
whole exome,clinical specialties
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