Analysis of Demographic Characteristics and Drinking Habits at a Southern College Provide Critical Information for Developing an Effective Prevention Program.

IMPORTANCE: To examine the associations of basic demographics (age, race, and gender identity) on alcohol consumption among college students at a mid-sized university. OBJECTIVE: To evaluate the drinking habits of students using the survey tool that will measure basic demographics to collect data. DESIGN: A cross-sectional study that included college students ages 17-21 at Columbus State University in the fall of 2021. SETTING: Columbus, Georgia. PARTICIPANTS: University students (n = 260, mean age 20.5 ± 3.8). ANALYSIS: One-way ANOVA and independent t-tests were used to test differences in age on alcohol consumption and binge drinking. Chi-Square tests and Fisher's Exact were used to estimate differences in proportions of binge drinking for race and gender. RESULTS: Underage students (57.7%) reported having consumed alcohol in the past. Frequency of alcohol consumption increased with age (P = 0.004). Caucasian students reported drinking most frequently, with 14.8% (n = 12) drinking at least once a week, compared to 0 African American students reporting they drank at least once per week (P < 0.001). There were no significant findings when examining differences in binge drinking for demographics assessed in this sample (P > 0.05). CONCLUSION: and Relevance: In this cross-sectional research study, the prevalence of underage drinking among college-aged students, there is a need for targeted prevention methods to reduce adverse health outcomes among this vulnerable population.

Bipolar Disorder in the Menopausal Transition.

PURPOSE OF REVIEW: We review recent data on bipolar disorder in menopausal-aged women, particularly in women undergoing the menopausal transition (MT). We discuss evidence on the severity of symptoms in bipolar women during the MT. Moreover, we address two factors in bipolar disorder and menopausal research: standardized menopausal staging and women's conceptualization of their menopausal and bipolar symptoms. RECENT FINDINGS: While there are few studies within the last 5 years on bipolar women undergoing the MT, new evidence suggest that mood symptoms in women worsen with progression through the MT. Consistent use of the standardized menopausal staging system can facilitate understanding of the timing of worsening symptoms. Moreover, whether women conceptualize their symptoms as arising from their MT or bipolar disorder can influence whether they seek hormonal therapy or psychiatric treatment, respectively. The MT is a potential time for mood instability in vulnerable women, which can manifest as first-onset development of bipolar disorder or increased symptom severity in women with pre-existing bipolar disorder. Adoption of a standardized menopausal staging may offer novel frameworks for understanding of the role of the MT in bipolar disorder.

Rapid functional analysis of computationally complex rare human IRF6 gene variants using a novel zebrafish model.

Large-scale sequencing efforts have captured a rapidly growing catalogue of genetic variations. However, the accurate establishment of gene variant pathogenicity remains a central challenge in translating personal genomics information to clinical decisions. Interferon Regulatory Factor 6 (IRF6) gene variants are significant genetic contributors to orofacial clefts. Although approximately three hundred IRF6 gene variants have been documented, their effects on protein functions remain difficult to interpret. Here, we demonstrate the protein functions of human IRF6 missense gene variants could be rapidly assessed in detail by their abilities to rescue the irf6 -/- phenotype in zebrafish through variant mRNA microinjections at the one-cell stage. The results revealed many missense variants previously predicted by traditional statistical and computational tools to be loss-of-function and pathogenic retained partial or full protein function and rescued the zebrafish irf6 -/- periderm rupture phenotype. Through mRNA dosage titration and analysis of the Exome Aggregation Consortium (ExAC) database, IRF6 missense variants were grouped by their abilities to rescue at various dosages into three functional categories: wild type function, reduced function, and complete loss-of-function. This sensitive and specific biological assay was able to address the nuanced functional significances of IRF6 missense gene variants and overcome many limitations faced by current statistical and computational tools in assigning variant protein function and pathogenicity. Furthermore, it unlocked the possibility for characterizing yet undiscovered human IRF6 missense gene variants from orofacial cleft patients, and illustrated a generalizable functional genomics paradigm in personalized medicine.