Posterior amorphous corneal dystrophy (PACD) is a rare, autosomal dominant disorder affecting the cornea and iris. Next-generation sequencing of the previously identified PACD linkage interval on chromosome 12q21.33 failed to yield a pathogenic mutation. However, array-based copy number analysis and qPCR were used to detect a hemizygous deletion in the PACD linkage interval containing 4 genes encoding small leucine-rich proteoglycans (SLRPs): KERA, LUM, DCN, and EPYC. Two other unrelated families with PACD also demonstrated deletion of these SLRPs, which play important roles in collagen fibrillogenesis and matrix assembly. Given that these genes are essential to the maintenance of corneal clarity and the observation that knockout murine models display corneal phenotypic similarities to PACD, we provide convincing evidence that PACD is associated with haploinsufficiency of these SLRPs.

Background Hereditary benign intraepithelial dyskeratosis (HBID) is a rare autosomal-dominant disorder of the conjunctiva and oral mucosa first described in and predominantly affecting descendents of Haliwa-Saponi Native Americans. We report a spontaneous case of histopathologically-confirmed HBID affecting an individual not of Native American ancestry. Materials and Methods Report of a case with histopathologic examination of an excised conjunctival specimen as well as molecular and cytogenetic analysis. Results A Caucasian boy with a history of oral lesions and conjunctival injection from birth developed bilateral corneal opacities at age 5 and underwent penetrating keratoplasty, with recurrence of the corneal opacification shortly after surgery. Examination of a conjuctival biopsy specimen revealed features consistent with HBID. Copy number variant (CNV) analysis revealed a de novo 4q35 duplication that overlapped the duplication previously associated with HBID, although no genes were identified in the common interval. NLRP1 gene sequencing failed to reveal a presumed pathogenic variant. Conclusions HBID may develop de novo in individuals who are not of Native American ancestry. The absence of coding regions in a duplicated region of 4q35 common to both the individual that we report and previously associated with HBID raises questions regarding the significance of this CNV in the pathogenesis of HBID.

INTRODUCTION. The primary purpose of this study was to evaluate the association between workplace stress and productivity among employees from worksites participating in a WorkWell KS Well-Being workshop and assess any differences by gender and race. METHODS. A multi-site, cross-sectional study was conducted to survey employees across four worksites participating in a WorkWell KS Well Being workshop to assess levels of stress and productivity. Stress was measured by the Perceived Stress Scale (PSS) and productivity was measured by the Health and Work Questionnaire (HWQ). Pearson correlations were conducted to measure the association between stress and productivity scores. T-tests evaluated differences in scores by gender and race. RESULTS. Of the 186 participants who completed the survey, most reported being white (94%), female (85%), married (80%), and having a college degree (74%). A significant inverse relationship was observed between the scores for PSS and HWQ, r = -0.35, p < 0.001; as stress increased, productivity appeared to decrease. Another notable inverse relationship was PSS with Work Satisfaction subscale, r = -0.61, p < 0.001. One difference was observed by gender- males scored significantly higher on the HWQ Supervisor Relations subscale compared with females, 8.4 (2.1) vs. 6.9 (2.7), respectively, p = 0.005. CONCLUSIONS. Scores from PSS and the HWQ appeared to be inversely correlated; higher stress scores were significantly associated with lower productivity scores. This negative association was observed for all HWQ subscales, but was especially strong for work satisfaction. This study also suggests that males may have better supervisor relations compared with females, although no gender differences were observed by perceived levels of stress.

Academic healthcare workforce diversity is important in addressing health disparities. Our goal was to evaluate trends and associations in faculty diversity of United States (US) medical schools over a five-year period. MethodsWe analyzed the Association of American Medical Colleges (AAMC) Faculty Roster data of 151 US medical schools from 2014-2018. Outcome faculty variables were female gender, underrepresented in medicine (UiM), age, and professorial representation. Predictor variables included geographical distributions, and institutional characteristics. Statistical analysis included Jonckheere-Terpstra test, ANOVA, and regression analysis. ResultsFemale faculty increased from 37.6% to 40.4% (p<0.001), senior faculty (age >60 years) from 22.6% to 25.9% (p=0.001) while UiM faculty stayed relatively flat from 9.74% to 10.08% (p=0.773). UiM [adjusted odds ratio (aOR) = 0.39, p=0.015], and female faculty (aOR=0.3, p=0.001) had independently significantly decreased associations with professorial representation, while senior faculty had increased associations (aOR=3.82, p<0.001). Significant independent differences occurred in female, UiM, and professorial faculty distributions within US regions; Hispanic faculty were highest in Southwest (6.57%) and lowest in Midwest region (1.59%), while African-American faculty were highest in Southeast (8.15%) but lowest in the West (3.12%). UiM faculty had significantly independent decreased associations with MD/PhD degree (aOR=0.30, p=0.004) and higher US ranking institutions (aOR=0.45, p=0.009). ConclusionsFrom 2014 to 2018, female faculty increased modestly while the UiM faculty trend remained flat. Female and UiM faculty were less represented at the professor level. UiM faculty were less represented in higher-ranking institutions. Geographic location is associated with faculty diversity.