Fiber-optic endoscopic evaluation of swallowing to assess swallowing outcomes as a function of head position in a normal population

BACKGROUND: Head position practice has been shown to influence pill-swallowing ability, but the impact of head position on measures of swallowing outcomes has not yet been studied with fiber-optic endoscopic evaluation of swallowing (FEES). The primary purpose of this study was to determine whether head position impacts penetration-aspiration scale scores and/or post-swallow pharyngeal residue as assessed by FEES. Documenting the incidence of pharyngeal residue and laryngeal penetration and aspiration in a normal population was a secondary goal. METHODS: Adults without swallowing difficulties (N = 84) were taught a pill swallowing technique based on learning five head positions and were asked to practice with small, hard candies (e.g., TicTacs) for two weeks. Then they demonstrated swallowing in each of the head positions for two conditions, liquid and purée, while undergoing FEES. RESULTS: Out of 840 examined swallows, one event of aspiration and 5 events of penetration occurred. During practice >50% participants found positions they preferred over the center position for swallowing but head position was not associated with penetration-aspiration scores assessed by FEES. Significant associations and non-significant trends were found between pharyngeal residue and three variables: age, most preferred head position, and least preferred head position. CONCLUSION: Head position during swallowing (head up) and age greater than 40 years may result in increased pharyngeal residue but not laryngeal penetration or aspiration

Fiber-optic endoscopic evaluation of swallowing to assess swallowing outcomes as a function of head position in a normal population

Abstract Background Head position practice has been shown to influence pill-swallowing ability, but the impact of head position on measures of swallowing outcomes has not yet been studied with fiber-optic endoscopic evaluation of swallowing (FEES). The primary purpose of this study was to determine whether head position impacts penetration-aspiration scale scores and/or post-swallow pharyngeal residue as assessed by FEES. Documenting the incidence of pharyngeal residue and laryngeal penetration and aspiration in a normal population was a secondary goal. Methods Adults without swallowing difficulties (N = 84) were taught a pill swallowing technique based on learning five head positions and were asked to practice with small, hard candies (e.g., TicTacs) for two weeks. Then they demonstrated swallowing in each of the head positions for two conditions, liquid and purée, while undergoing FEES. Results Out of 840 examined swallows, one event of aspiration and 5 events of penetration occurred. During practice >50% participants found positions they preferred over the center position for swallowing but head position was not associated with penetration-aspiration scores assessed by FEES. Significant associations and non-significant trends were found between pharyngeal residue and three variables: age, most preferred head position, and least preferred head position. Conclusion Head position during swallowing (head up) and age greater than 40 years may result in increased pharyngeal residue but not laryngeal penetration or aspiration

Whole genome sequence analysis of apparent treatment resistant hypertension status in participants from the Trans-Omics for Precision Medicine program.

Introduction: Apparent treatment-resistant hypertension (aTRH) is characterized by the use of four or more antihypertensive (AHT) classes to achieve blood pressure (BP) control. In the current study, we conducted single-variant and gene-based analyses of aTRH among individuals from 12 Trans-Omics for Precision Medicine cohorts with whole-genome sequencing data. Methods: Cases were defined as individuals treated for hypertension (HTN) taking three different AHT classes, with average systolic BP ≥ 140 or diastolic BP ≥ 90 mmHg, or four or more medications regardless of BP (n = 1,705). A normotensive control group was defined as individuals with BP < 140/90 mmHg (n = 22,079), not on AHT medication. A second control group comprised individuals who were treatment responsive on one AHT medication with BP < 140/ 90 mmHg (n = 5,424). Logistic regression with kinship adjustment using the Scalable and Accurate Implementation of Generalized mixed models (SAIGE) was performed, adjusting for age, sex, and genetic ancestry. We assessed variants using SKAT-O in rare-variant analyses. Single-variant and gene-based tests were conducted in a pooled multi-ethnicity stratum, as well as self-reported ethnic/racial strata (European and African American). Results: One variant in the known HTN locus, KCNK3, was a top finding in the multi-ethnic analysis (p = 8.23E-07) for the normotensive control group [rs12476527, odds ratio (95% confidence interval) = 0.80 (0.74-0.88)]. This variant was replicated in the Vanderbilt University Medical Centers DNA repository data. Aggregate gene-based signals included the genes AGTPBP, MYL4, PDCD4, BBS9, ERG, and IER3. Discussion: Additional work validating these loci in larger, more diverse populations, is warranted to determine whether these regions influence the pathobiology of aTRH

Chromosome Xq23 is associated with lower atherogenic lipid concentrations and favorable cardiometabolic indices

Abstract Autosomal genetic analyses of blood lipids have yielded key insights for coronary heart disease (CHD). However, X chromosome genetic variation is understudied for blood lipids in large sample sizes. We now analyze genetic and blood lipid data in a high-coverage whole X chromosome sequencing study of 65,322 multi-ancestry participants and perform replication among 456,893 European participants. Common alleles on chromosome Xq23 are strongly associated with reduced total cholesterol, LDL cholesterol, and triglycerides (min P = 8.5 × 10−72), with similar effects for males and females. Chromosome Xq23 lipid-lowering alleles are associated with reduced odds for CHD among 42,545 cases and 591,247 controls (P = 1.7 × 10−4), and reduced odds for diabetes mellitus type 2 among 54,095 cases and 573,885 controls (P = 1.4 × 10−5). Although we observe an association with increased BMI, waist-to-hip ratio adjusted for BMI is reduced, bioimpedance analyses indicate increased gluteofemoral fat, and abdominal MRI analyses indicate reduced visceral adiposity. Co-localization analyses strongly correlate increased CHRDL1 gene expression, particularly in adipose tissue, with reduced concentrations of blood lipids