AudGen

BACKGROUND: Alcohol use disorder (AUD) is one of the most common forms of substance use disorders with a strong contribution of genetic (50%-60%) and environmental factors. Genome-wide association studies (GWAS) have identified a number of AUD-associated variants, including those in alcohol metabolism genes. These genetic variants may modulate gene expression, making individuals more susceptible to AUD. A long-term alcohol consumption can also change the transcriptome patterns of subjects via epigenetic modulations...

BACKGROUND: The purpose of this study was to evaluate hearing impairment in pediatric patients with cystic fibrosis (CF). METHODS: This is a retrospective analysis of the AudGen database generated by Children's Hospital of Philadelphia. Audiograms were analyzed for type of hearing loss (HL), pure-tone-average (PTA), laterality, and change in hearing over time. Medical charts were reviewed to identify factors that influence development and progression of hearing loss...

OBJECTIVES: To evaluate the type and severity of hearing impairment in pediatric patients with primary ciliary dyskinesia (PCD) and relate these measures to patient demographics, treatment options, and other otologic factors. METHODS: A retrospective analysis of children with a diagnosis of PCD, Kartagener's syndrome, or situs inversus in the AudGen Database was conducted. Audiograms were analyzed for type of hearing loss (HL), severity, laterality, and progression...

OBJECTIVE: This study evaluates the prevalence, type, and severity of hearing impairment in children with cerebral palsy (CP) and to analyze audiologic and otologic outcomes in these patients. STUDY DESIGN: Retrospective analysis of the AudGen Database. SETTING: Tertiary academic referral center. PATIENTS: Pediatric patients in AudGen Database with a diagnosis of cerebral palsy. Appropriate audiologic, otologic, and demographic data were recorded...

OBJECTIVE: Although insulin-like growth factor 1 (IGF-1) has been shown to be important for inner-ear development in animal models, little is known about the otologic and audiologic findings of children with growth hormone deficiency (GHD). The goal of this study is to evaluate the prevalence, type, and severity of hearing impairment in children with GHD. METHODS: Audiologic, otologic, and demographic data were recorded for children with a diagnosis of GHD in the AudGen database...

OBJECTIVE: The focus of this study was to evaluate the prevalence, type, and severity of hearing impairment in patients with velo-cardio-facial syndrome (VCFS) and to compare these characteristics with patient demographics and other otologic factors. STUDY DESIGN: Retrospective analysis of the AudGen Database. SETTING: Tertiary academic referral center. PATIENTS: Pediatric patients in AudGenDB with a diagnosis of velo-cardio-facial syndrome or DiGeorge syndrome...

OBJECTIVE: The focus of this study was to evaluate the prevalence, type, and severity of hearing impairment in patients with Duane's Retraction Syndrome and to relate these measures to patient demographics and other otologic and audiologic factors. STUDY DESIGN: Retrospective AudGen Database analysis SETTING: Tertiary academic referral center PATIENTS: Pediatric patients in AudGenDB with a diagnosis of Duane's Retraction Syndrome (DRS)...

OBJECTIVE: The focus of this study was to evaluate the prevalence, type, and severity of hearing impairment in patients with Ehlers-Danlos Syndrome (EDS) and to compare these characteristics with patient demographics and other otologic factors. STUDY DESIGN: Retrospective analysis of the AudGen Database. SETTING: Tertiary academic referral center. PATIENTS: Pediatric patients in AudGenDB with a diagnosis EDS. INTERVENTIONS: Appropriate audiologic, otologic, and demographic data were recorded...