Genetic epidemiologic study of hearing loss in an adult population

1994 ◽  
Vol 54 (2) ◽  
pp. 149-153 ◽  
Author(s):  
Anne M. Sill ◽  
Melissa J. Stick ◽  
Valerie L. Prenger ◽  
Susan L. Phillips ◽  
Joann A. Boughman ◽  
...  
Keyword(s):  
Hearing Loss ◽  
Adult Population ◽  
Epidemiologic Study ◽  
Genetic Epidemiologic Study

scholarly journals A Genetic Epidemiologic Study of Candidate Genes Involved in the Optic Nerve Head Morphology

2012 ◽  
Vol 53 (3) ◽  
pp. 1485 ◽  
Author(s):  
Andrea C. Gasten ◽  
Wishal D. Ramdas ◽  
Linda Broer ◽  
Leonieke M. E. van Koolwijk ◽  
M. Kamran Ikram ◽  
...  
Keyword(s):  
Optic Nerve ◽  
Candidate Genes ◽  
Optic Nerve Head ◽  
Epidemiologic Study ◽  
Head Morphology ◽  
Genetic Epidemiologic Study

A genetic epidemiologic study of self-report suspiciousness

1987 ◽  
Vol 28 (3) ◽  
pp. 187-196 ◽  
Author(s):  
Kenneth S. Kendler ◽  
Andrew Heath ◽  
Nicholas G. Martin
Keyword(s):  
Epidemiologic Study ◽  
Self Report ◽  
Genetic Epidemiologic Study

Genetic-epidemiologic study of omphalocele and gastroschisis: Evidence for heterogeneity

1992 ◽  
Vol 44 (5) ◽  
pp. 668-675 ◽  
Author(s):  
Ping Yang ◽  
Terri H. Beaty ◽  
Muin J. Khoury ◽  
Elsbeth Chee ◽  
Walter Stewart ◽  
...  
Keyword(s):  
Epidemiologic Study ◽  
Genetic Epidemiologic Study

scholarly journals Population-scale analysis of common and rare genetic variation associated with hearing loss in adults

2021 ◽  
Author(s):  
Kavita Praveen ◽  
Lee Dobbyn ◽  
Lauren Gurski ◽  
Ariane H. Ayer ◽  
Jeffrey Staples ◽  
...  
Keyword(s):  
Hearing Loss ◽  
Exome Sequencing ◽  
Large Scale ◽  
Meta Analysis ◽  
Adult Population ◽  
Loss Of Function ◽  
Common Coding ◽  
A Genome ◽  
Increased Risk ◽  
Coding Variants

ABSTRACTUnderstanding the genetic underpinnings of disabling hearing loss, which affects ∼466 million people worldwide, can provide avenues for new therapeutic target development. We performed a genome-wide association meta-analysis of hearing loss with 125,749 cases and 469,497 controls across five cohorts, including UK Biobank, Geisinger DiscovEHR, the Malmö Diet and Cancer Study, Mount Sinai’s BioMe Personalized Medicine Cohort, and FinnGen. We identified 53 loci affecting hearing loss risk, 15 of which are novel, including common coding variants in COL9A3 and TMPRSS3. Through exome-sequencing of 108,415 cases and 329,581 controls from the same cohorts, we identified hearing loss associations with burden of rare coding variants in FSCN2 (odds ratio [OR] = 1.14, P = 1.9 × 10−15) and burden of predicted loss-of-function variants in KLHDC7B (OR = 2.14, P = 5.2 × 10−30). We also observed single-variant and gene-burden associations with 11 genes known to cause Mendelian forms of hearing loss, including an increased risk in heterozygous carriers of mutations in the autosomal recessive hearing loss genes GJB2 (Gly12fs; OR = 1.21, P = 4.2 × 10−11) and SLC26A5 (gene burden; OR = 1.96, P = 2.8 × 10−17). Our results suggest that loss of KLHDC7B function increases risk for hearing loss, and show that Mendelian hearing loss genes contribute to the burden of hearing loss in the adult population, suggesting a shared etiology between common and rare forms of hearing loss. This work illustrates the potential of large-scale exome sequencing to elucidate the genetic architecture of common traits in which risk is modulated by both common and rare variation.

scholarly journals Cohort Profile: ZOE 2.0—A Community-Based Genetic Epidemiologic Study of Early Childhood Oral Health

2020 ◽  
Vol 17 (21) ◽  
pp. 8056
Author(s):  
Kimon Divaris ◽  
Gary D. Slade ◽  
Andrea G. Ferreira Zandona ◽  
John S. Preisser ◽  
Jeannie Ginnis ◽  
...  
Keyword(s):  
Early Childhood ◽  
Oral Health ◽  
Genome Wide Association Study ◽  
Epidemiologic Study ◽  
Community Based ◽  
Cross Sectional ◽  
Genome Wide ◽  
Rich Data ◽  
Racial Ethnic ◽  
Genetic Epidemiologic Study

Early childhood caries (ECC) is an aggressive form of dental caries occurring in the first five years of life. Despite its prevalence and consequences, little progress has been made in its prevention and even less is known about individuals’ susceptibility or genomic risk factors. The genome-wide association study (GWAS) of ECC (“ZOE 2.0”) is a community-based, multi-ethnic, cross-sectional, genetic epidemiologic study seeking to address this knowledge gap. This paper describes the study’s design, the cohort’s demographic profile, data domains, and key oral health outcomes. Between 2016 and 2019, the study enrolled 8059 3–5-year-old children attending public preschools in North Carolina, United States. Participants resided in 86 of the state’s 100 counties and racial/ethnic minorities predominated—for example, 48% (n = 3872) were African American, 22% white, and 20% (n = 1611) were Hispanic/Latino. Seventy-nine percent (n = 6404) of participants underwent clinical dental examinations yielding ECC outcome measures—ECC (defined at the established caries lesion threshold) prevalence was 54% and the mean number of decayed, missing, filled surfaces due to caries was eight. Nearly all (98%) examined children provided sufficient DNA from saliva for genotyping. The cohort’s community-based nature and rich data offer excellent opportunities for addressing important clinical, epidemiologic, and biological questions in early childhood.

Aural Rehabilitation for Older Adults with Hearing Loss: Impacts on Quality of Life—A Systematic Review of Randomized Controlled Trials

2017 ◽  
Vol 28 (07) ◽  
pp. 596-609 ◽  
Author(s):  
Helen N. Michaud ◽  
Louise Duchesne
Keyword(s):  
Quality Of Life ◽  
Older Adults ◽  
Hearing Loss ◽  
Adult Population ◽  
Effect Sizes ◽  
Bias Assessment ◽  
Aural Rehabilitation ◽  
Measuring Outcomes ◽  
Older Adult Population

AbstractFew systematic reviews have been conducted regarding aural rehabilitation for adults with hearing loss, with none specifically targeting the older adult population. With prevalence rates of hearing loss being highest in older adults, examining the effects of aural rehabilitation on this population is warranted.To evaluate the effects of aural rehabilitation on quality of life in an older adult population presenting with hearing loss.Studies with adults presenting with hearing loss, ≥50 yr of age, with or without hearing aids, receiving interventions such as auditory training, speech-reading, communication strategies training, speech tracking, counseling, or a combination of approaches, and measuring outcomes related to quality of life, in an individual or group format, with or without significant others and with no limitations as to year of publication.Searches in six databases, as well as results from hand-searching, gray literature, and cross-referencing of articles, yielded 386 articles. Of the 145 assessed as full-text articles for eligibility, 8 studies met inclusion criteria.A component-based risk of bias assessment, as recommended by the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) statement.No effect sizes were found in group interventions measuring outcomes related to quality of life, such as mental and emotional functions, environmental factors, participation restrictions, and activity limitations. An intervention effect regarding participation was found for a self-administered home training program, but an effect size was unavailable. Small-to-medium effect sizes were found in one of two individual communication training programs, for which outcomes related to quality of life, such as emotional functions, activities, participation, and environmental factors were measured. The results of the component-based risk of bias assessment indicated that the quality of reporting was poor, thus compromising the internal validity of included primary studies.Our results indicate that the combined body of evidence in support of aural rehabilitation for older adults with hearing loss is not sufficient to draw any firm conclusions. We identify a need for more rigorous research to guide clinical decision-making.

Tornwaldt's cyst formation after concurrent chemoradiotherapy for nasopharyngeal carcinoma

2006 ◽  
Vol 120 (11) ◽  
pp. 959-960 ◽  
Author(s):  
S-L Chang ◽  
T-C Wu ◽  
C-Y Yiu
Keyword(s):  
Hearing Loss ◽  
Nasopharyngeal Carcinoma ◽  
World Literature ◽  
Concurrent Chemoradiotherapy ◽  
Adult Population ◽  
Cranial Nerves ◽  
Cyst Formation ◽  
Pharyngeal Wall ◽  
Pituitary Dysfunction ◽  
The World

The complications of concurrent chemoradiotherapy for nasopharyngeal carcinoma include dryness of mouth, sensorineural hearing loss, dental caries, trismus, pituitary dysfunction, myelitis, paralysis of cranial nerves IX–XII, massive neck fibrosis and pharyngeal wall necrosis. Tornwaldt's cyst formation after concurrent chemoradiotherapy for nasopharyngeal carcinoma has not been reported previously in the world literature. Tornwaldt's cyst, a persistent pharyngeal bursa, is found in about 3 per cent of the adult population, although the majority of these are asymptomatic. We describe the previously unreported complication of Tornwaldt's cyst formation after concurrent chemoradiotherapy for nasopharyngeal carcinoma.

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