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Hearing loss is a frequent sensory impairment in humans and genetic factors account for an elevated fraction of the cases. We have investigated a large family of five generations, with 15 reported individuals presenting non-syndromic, sensorineural, bilateral and progressive hearing loss, segregating as an autosomal dominant condition. Linkage analysis, using SNP-array and selected microsatellites, identified a region of near 13 cM in chromosome 20 as the best candidate to harbour the causative mutation. After exome sequencing and filtering of variants, only one predicted deleterious variant in the NCOA3 gene (NM_181659, c.2810C > G; p.Ser937Cys) fit in with our linkage data. RT-PCR, immunostaining and in situ hybridization showed expression of ncoa3 in the inner ear of mice and zebrafish. We generated a stable homozygous zebrafish mutant line using the CRISPR/Cas9 system. ncoa3-/- did not display any major morphological abnormalities in the ear, however, anterior macular hair cells showed altered orientation. Surprisingly, chondrocytes forming the ear cartilage showed abnormal behaviour in ncoa3-/-, detaching from their location, invading the ear canal and blocking the cristae. Adult mutants displayed accumulation of denser material wrapping the otoliths of ncoa3-/- and increased bone mineral density. Altered zebrafish swimming behaviour corroborates a potential role of ncoa3 in hearing loss. In conclusion, we identified a potential candidate gene to explain hereditary hearing loss, and our functional analyses suggest subtle and abnormal skeletal behaviour as mechanisms involved in the pathogenesis of progressive sensory function impairment.

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The Healer's Art curriculum (HART) is one of the best-known educational strategies to support medical student professional identity formation. HART has been widely used as an elective curriculum. We evaluated students' experience with HART when the curriculum was required. All one hundred eleven members of the class of 2019 University of New Mexico School of Medicine students were required to enroll in HART. We surveyed the students before and after the course to assess its self-reported impact on key elements of professional identity formation such as empathy towards patients and peers, commitment to service, and burnout. A majority of students (n=53 of 92, 57.6%) reported positive effects of the course on their empathy towards other students. This finding was significantly associated with self-reported willingness to have elected the course had it not been required. One-half of respondents (n=46 of 92, 50.0%) reported positive effects on their empathy towards future patients. At least one-quarter to one-third of respondents reported positive influences on commitment to service, conceptions about being a physician, and self-perceived burnout. Students report benefits on their professional identity formation after participating in a required course on humanism. Empathy-building among peers is one valuable outcome of such curricula.

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Background: Medical students are reluctant to access mental health services, despite having high rates of anxiety and depression. This reluctance persists through residency and into practice. Physicians and trainees who are unwell deliver lower quality patient care, behave less professionally, communicate less effectively and are at an increased risk for burnout and suicide. Little is known about whether students would disclose a mental health diagnosis on a state board medical license application.Objectives: The objectives of this study were to determine whether University of New Mexico School of Medicine (UNM SOM) students would be willing to disclose a mental health diagnosis on a medical licensing application if prompted to do so, and, if not, to identify the reasons for their unwillingness to do so.Design: We electronically invited all UNM SOM students enrolled in the Classes of 2019, 2020, 2021, and 2022 to participate in a confidential RedCap survey about mental health diagnoses and treatment. Four e-mail invitations and reminders were sent to students over a one-month period.Results: Response rate was 50.1%. Thirty-six percent of all respondents considered themselves to have had a mental health condition prior to medical school, and 47% of all respondents perceived a decline in mental health during medical school. The majority of respondents who perceived they had a mental health diagnosis (51%) stated they would not disclose this information on a New Mexico Medical Board (NMMB) license application. Fear of stigmatization, fear of repercussions, and a belief that such disclosure was irrelevant were the top reasons for non-disclosure.Conclusion: Students who perceive themselves to have mental health diagnoses are unlikely to disclose their mental health status on state medical board licensing applications when asked to do so. Addressing barriers to disclosure of mental health diagnoses is necessary for building a healthier physician workforce.

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Population genetic data from nuclear DNA has yet to be synthesized to allow broad scale comparisons of intraspecific diversity versus species diversity. The MacroPopGen database collates and geo-references vertebrate population genetic data across the Americas from 1,308 nuclear microsatellite DNA studies, 897 species, and 9,090 genetically distinct populations where genetic differentiation (FST) was measured. Caribbean populations were particularly distinguished from North, Central, and South American populations, in having higher differentiation (FST = 0.12 vs. 0.07-0.09) and lower mean numbers of alleles (MNA = 4.11 vs. 4.84-5.54). While mammalian populations had lower MNA (4.86) than anadromous fish, reptiles, amphibians, freshwater fish, and birds (5.34-7.81), mean heterozygosity was largely similar across groups (0.57-0.63). Mean FST was consistently lowest in anadromous fishes (0.06) and birds (0.05) relative to all other groups (0.09-0.11). Significant differences in Family/Genera variance among continental regions or taxonomic groups were also observed. MacroPopGen can be used in many future applications including latitudinal analyses, spatial analyses (e.g. central-margin), taxonomic comparisons, regional assessments of anthropogenic impacts on biodiversity, and conservation of wild populations.

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PURPOSE: To distinguish the origins of higher weight status and determine when and why intra- and interracial/ethnic disparities emerge. DESIGN: The study used a longitudinal analysis of the Early Childhood Longitudinal Study-Birth Cohort (ECLS-B). SETTING: The study was conducted in the United States. SUBJECTS: Participants were children of non-Hispanic white mothers and children of U.S.- and foreign-born mothers of Mexican origin from a nationally representative sample of children born in the year 2001 (N ≈ 3700). MEASURES: The Centers for Disease Control and Prevention growth charts determined sex- and age-specific weight status. Covariates were obtained from birth certificate records and parent interviews. ANALYSIS: Frequencies, growth curve trajectories, and ordinary least squares regression examined body mass index (BMI) and obesity across survey waves. RESULTS: Compared to their peers with non-Hispanic white mothers, children of Mexican-heritage mothers have higher average BMI and greater rates of obesity. The BMI of boys with Mexican-born mothers is higher relative to whites and children of U.S.-born Mexican mothers across early childhood, increasing sharply at about age 4.5 years. This divergence is driven by increases in the BMI of boys, as girls do not show the same growth. A number of measures, including descriptors of children's nutritional intake, lifestyle factors, and acculturation, do not explain the increased obesity rates among sons of Mexican mothers. CONCLUSION: Despite favorable perinatal health and weight, Mexican-American sons of foreign-born mothers show disadvantages in BMI that emerge close to the start of kindergarten.

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