Background Mutations involving the closely linked GJB2 and GJB6 at the DFNB1 locus are a common genetic cause of profound congenital hearing loss in many populations. In some deaf GJB2 heterozygotes, a 309 kb deletion involving the GJB6 has been found to be the cause for hearing loss when inherited in trans to a GJB2 mutation. Methods We screened 2,376 probands from a National DNA Repository of deaf individuals. Results Fifty‐two of 318 heterozygous probands with pathogenic GJB2 sequence variants had a GJB6 deletion. Additionally, eight probands had an isolated heterozygous GJB6 deletion that did not explain their hearing loss. In two deaf subjects, including one proband, a homozygous GJB6 deletion was the cause for their hearing loss, a rare occurrence not reported to date. Conclusion This study represents the largest US cohort of deaf individuals harboring GJB2 and GJB6 variants, including unique subsets of families with deaf parents. Testing additional members to clarify the phase of GJB2/GJB6 variants in multiplex families was crucial in interpreting clinical significance of the variants in the proband. It highlights the importance of determining the phase of GJB2/GJB6 variants when interpreting molecular test results especially in multiplex families with assortative mating.

Background Chronic pain is comorbid with psychiatric disorders, but information on the association of chronic pain with depressive symptoms, generalized anxiety, and suicidal behavior among occupational cohorts is inadequate. We investigated these associations among employed Chilean adults. Methods A total of 1946 working adults were interviewed during their outpatient visit. Pain was assessed using the Short Form McGill Pain questionnaire (SF-MPG) while depression and generalized anxiety were examined using the Patient Health Questionnaire-9 (PHQ-9) and Generalized Anxiety Disorder-7 (GAD-7), respectively. The Columbia–Suicide Severity Rating Scale was used to assess suicidal behavior and suicidal ideation. Multivariable logistic regression models were used to estimate adjusted odds ratios (aORs) and 95% confidence intervals (95%CI) for the association of chronic pain with mood disorders, as well as suicidal behavior. Results High chronic pain (SF-MPG > 11) was reported by 46% of participants. Approximately two-fifths of the study participants (38.2%) had depression, 23.8% generalized anxiety, 13.4% suicidal ideation, and 2.4% suicidal behavior. Compared to those with low pain (SF-MPG ≤11), participants with high chronic pain (SF-MPG > 11) had increased odds of experiencing depression only (aOR = 2.87; 95% CI: 2.21–3.73), generalized anxiety only (aOR = 2.38; 95% CI: 1.42–3.99), and comorbid depression and generalized anxiety (aOR = 6.91; 95% CI: 5.20–9.19). The corresponding aOR (95%CI) for suicidal ideation and suicidal behavior were (aOR = 2.20; 95% CI: 1.58–3.07) and (aOR = 2.18 = 95% CI: 0.99–4.79), respectively. Conclusions Chronic pain is associated with increased odds of depression, generalized anxiety, and suicidal behavior. Mental health support and appropriate management of patients experiencing chronic pain are critical.

BackgroundDespite advances in antivirals, disparities in hepatitis C (HCV) treatment remain. We evaluated persons diagnosed with HCV in 4 safety net sites in a large Southeastern county, using care cascades to conceptualize milestones in treatment.MethodsPersons diagnosed with HCV in 4 screening sites across Durham County, North Carolina, from December 2015 to May 2018 were included, allowing for 9 months of follow-up. Sites included the county health department (CHD), a federally qualified health center (FQHC) where providers trained in HCV care, jail and community outreach. Persons with HCV were eligible for a bridge counselor intervention to enhance linkage to care with an HCV-treating provider (either primary care or specialist). Outcomes were monitored by chart review. Persons linked to care in the prison (n = 36) were censored from subsequent cascade steps due to inability to obtain records. Cascades were compared by the site of diagnosis. Multivariable logistic regression was used to evaluate predictors of being prescribed antivirals.Results505 persons were diagnosed with HCV: 216 in the FQHC, 158 in the jail, 72 in the CHD, and 59 in community outreach. Overall, 89% were counseled on their diagnosis, 65% were linked to care, 41% prescribed antivirals, 38% started medications, 34% completed medications and 24% achieved sustained viral response at 12 weeks (SVR-12). Progression through the cascade was highest for those diagnosed at the FQHC (figure). In analyses adjusted for demographics and risk factors, diagnosis in a community outreach setting had lower odds of antiviral prescription, compared with diagnosis in the FQHC (OR 0.33, 95% CI 0.12–0.89). Linkage to care at a specialist clinic (vs. primary care) was associated with antiviral prescription (OR 3.82, CI 1.95–7.46). Sex, race/ethnicity, insurance status and HCV risk factors were not associated with antiviral prescription.ConclusionAmong persons diagnosed with HCV across four safety net sites, a quarter achieved SVR-12. Those diagnosed in community outreach had lower odds of antiviral prescription, and those who were linked to a specialist were more likely to receive antiviral prescription. Improving progression through cascade milestones across safety-net settings is integral to improving population-based HCV outcomes. Disclosures All authors: No reported disclosures.

Background Chronic pain is comorbid with psychiatric disorders, but information on the association of chronic pain with depressive symptoms, generalized anxiety, and suicidal behavior among occupational cohorts is inadequate. We investigated these associations among employed Chilean adults. Methods A total of 1,946 working adults were interviewed during their outpatient visit. Pain was assessed using the Short Form McGill Pain questionnaire (SF-MPG) while depression and generalized anxiety were examined using the Patient Health Questionnaire-9 (PHQ-9) and Generalized Anxiety Disorder-7 (GAD-7), respectively. The Columbia–Suicide Severity Rating Scale was used to assess suicidal behavior and suicidal ideation. Multivariable logistic regression models were used to estimate adjusted odds ratios (aORs) and 95% confidence intervals (95%CI) for the association of chronic pain with mood disorders, as well as suicidal behavior. Results High chronic pain (SF-MPG > 11) was reported by 46% of participants. Approximately two-fifths of the study participants (38.2%) had depression, 23.8% generalized anxiety, 13.4% suicidal ideation, and 2.4% suicidal behavior. Compared to those with low pain (SF-MPG ≤ 11), participants with high chronic pain (SF-MPG > 11) had increased odds of experiencing depression only (aOR = 2.87; 95% CI: 2.21–3.73), generalized anxiety only (aOR = 2.38; 95% CI: 1.42–3.99), and comorbid depression and generalized anxiety (aOR = 6.91; 95% CI: 5.20–9.19). The corresponding aOR (95%CI) for suicidal ideation and suicidal behavior were (aOR = 2.20; 95% CI: 1.58–3.07) and (aOR = 2.18 = 95% CI: 0.99–4.79), respectively. Conclusions Chronic pain is associated with increased odds of depression, generalized anxiety, and suicidal behavior. Mental health support and appropriate management of patients experiencing chronic pain are critical.