R117h

My son is almost 3 and was found to have the mutant R117H 7t/9t in his newborn screen (kansas does the most common 40). We did a sweat test at 3-4wks old and it was negative. Since then we have struggled acid reflux as a baby and ongoing diarrhea. And frequently episodes of croup as well as him throwing up mucus. He snores as an infant. I do feel like he tastes salty now. At least compared to his sister's. After reading up on this particular mutation I wasn't sure if it would be worth pushing for full DNA testing to see if he has a rarer gene.
Source: Cystic Fibrosis Families Forum - Category: Respiratory Medicine Authors: Tags: Families Source Type: forums

Related Links:

Conclusions:Intranasal steroids and montelukast did not decrease AHI; however, total sleep time and percent of stage R sleep significantly increased. Self-reported improvement could be explained by observed changes in sleep parameters. Larger prospective studies could help elucidate the effects of medical therapy on adult patients with OSA.Clinical Trial Registration:Registry: ClinicalTrials.gov; Title: Montelukast and Nasa ICS for Treatment of Mild Obstructive Sleep Apnea in Adults; Identifier: NCT01089647; URL:https://clinicaltrials.gov/ct2/show/record/NCT01089647Citation:Smith DF, Sarber KM, Spiceland CP, Ishman SL, Aug...
Source: Journal of Clinical Sleep Medicine : JCSM - Category: Sleep Medicine Source Type: research
AbstractBackgroundObesity is associated with a twofold risk of gastroesophageal reflux disease (GERD) and thrice the risk of Barrett ’s esophagus (BE). Roux-en-Y gastric bypass (RYGB) leads to weight loss and improvement of GERD in population with obesity, but its effect on BE is less clear.MethodsBibliographic databases were searched systematically for relevant articles till January 31, 2019. Studies evaluating the effect of RYGB on BE with preoperative and postoperative endoscopy and biopsy were included. Study quality was assessed using the Methodological Index for Non-Randomized Studies (MINORS) tool. Meta-analys...
Source: Obesity Surgery - Category: Surgery Source Type: research
Condition:   Cystic Fibrosis Intervention:   Device: Fitbit Tracker Sponsors:   Medical College of Wisconsin;   Cystic Fibrosis Foundation Not yet recruiting
Source: ClinicalTrials.gov - Category: Research Source Type: clinical trials
Condition:   Cystic Fibrosis Intervention:   Behavioral: Motivational Interviewing Sponsors:   Belfast Health and Social Care Trust;   Queen's University, Belfast Completed
Source: ClinicalTrials.gov - Category: Research Source Type: clinical trials
Condition:   Cystic Fibrosis Intervention:   Device: Fitbit Tracker Sponsors:   Medical College of Wisconsin;   Cystic Fibrosis Foundation Not yet recruiting
Source: ClinicalTrials.gov - Category: Research Source Type: clinical trials
Objective: To report 1-year results from a 5-year mandated study. Summary Background Data: In 2012, the United States Food and Drug Administration approved magnetic sphincter augmentation (MSA) with the LINX Reflux Management System (Torax Medical, Shoreview, MN), a novel device for the surgical treatment of gastroesophageal reflux disease (GERD). Continued assessment of safety and effectiveness has been monitored in a Post Approval Study. Methods: Multicenter, prospective study of patients with pathologic acid reflux confirmed by esophageal pH testing undergoing MSA. Predefined clinical outcomes were assessed at t...
Source: Annals of Surgery - Category: Surgery Tags: ORIGINAL ARTICLES Source Type: research
ConclusionsSPX-101 was well-tolerated across a range of doses and had little/no systemic exposure in healthy adults and adults with CF, thus supporting further study in patients with CF.Clinicaltrial.gov registrationNCT03056989.
Source: Pulmonary Pharmacology and Therapeutics - Category: Respiratory Medicine Source Type: research
Condition:   Cystic Fibrosis Intervention:   Behavioral: Motivational Interviewing Sponsors:   Belfast Health and Social Care Trust;   Queen's University, Belfast Completed
Source: ClinicalTrials.gov - Category: Research Source Type: clinical trials
More News: Acid Reflux | Babies | Cystic Fibrosis | Gastroesophageal Reflux Disease | Genetics | GERD | Respiratory Medicine | Snoring