Medical Aspects of Transitioning - A Guide for Transgender Youth

Interacting with the medical system can be intimidating for all youth, including those who are transgender. The goal of this project was to provide information about community resources and medical terminology and treatments that transgender youth may encounter during the medical transition process. The target audience is those that attend a community center dedicated to LGBTQ youth.https://scholarworks.uvm.edu/fmclerk/1369/thumbnail.jp

Prenatal Lead Exposure Risk Assessment by Vermont Maternity Care Providers

Introduction. One percent of women of childbearing age in the U.S. have blood lead levels ≥ 5 ug/dL, which are associated with maternal hypertension during pregnancy, neural tube and cardiac defects in infants, low birth weight, prematurity, and spontaneous abortion. It is unknown whether obstetrics providers in Vermont are screening their pregnant patients for lead levels and educating them on lead exposure risks. Objective. To gain an understanding of current lead screening practices in Vermont and issue recommendations for disseminating lead screening information. Methods. We developed and e-mailed a survey to practicing OB/GYN physicians, maternity care focused family medicine physicians, nurse midwives, and professional midwives. The survey assessed current screening practices for lead exposure in their pregnant patients, interest in receiving statewide guidelines, and guideline dissemination preferences. Results. Of the 41 respondents, 12% currently conduct risk assessments for lead exposure with all of their pregnant patients. Fifty four percent of maternity providers give all of their patients educational materials about lead exposure and risk of toxicity. Seventy one percent of maternity providers think that having guidelines provided by the Vermont Department of Health would encourage them to begin or continue lead exposure screening. The two preferred methods of communicating guidelines to physicians were grand rounds and email whereas non-physician providers preferred email and webinar. Discussion. The majority of pregnant patients in Vermont are not properly assessed or educated about lead risks. However, there is interest in having statewide standardized lead risk assessment guidelines, with dissemination preferences differing by provider type.https://scholarworks.uvm.edu/comphp_gallery/1248/thumbnail.jp

Determining the Likelihood of Disease Pathogenicity Among Incidentally Identified Genetic Variants in Rare Dilated Cardiomyopathy‐Associated Genes

Background As utilization of clinical exome sequencing (ES) has expanded, criteria for evaluating the diagnostic weight of incidentally identified variants are critical to guide clinicians and researchers. This is particularly important in genes associated with dilated cardiomyopathy (DCM), which can cause heart failure and sudden death. We sought to compare the frequency and distribution of incidentally identified variants in DCM‐associated genes between a clinical referral cohort with those in control and known case cohorts to determine the likelihood of pathogenicity among those undergoing genetic testing for non‐DCM indications. Methods and Results A total of 39 rare, non‐TTN DCM‐associated genes were identified and evaluated from a clinical ES testing referral cohort (n=14 005, Baylor Genetic Laboratories) and compared with a DCM case cohort (n=9442) as well as a control cohort of population variants (n=141 456) derived from the gnomAD database. Variant frequencies in each cohort were compared. Signal‐to‐noise ratios were calculated comparing the DCM and ES cohort with the gnomAD cohort. The likely pathogenic/pathogenic variant yield in the DCM cohort (8.2%) was significantly higher than in the ES cohort (1.9%). Based on signal‐to‐noise and correlation analysis, incidental variants found in FLNC, RBM20, MYH6, DSP, ABCC9, JPH2, and NEXN had the greatest chance of being DCM‐associated. Conclusions The distribution of pathogenic variants between the ES cohort and the DCM case cohort was gene specific, and variants found in the ES cohort were similar to variants found in the control cohort. Incidentally identified variants in specific genes are more associated with DCM than others

Signal-to-Noise Analysis Can Inform the Likelihood That Incidentally Identified Variants in Sarcomeric Genes Are Associated with Pediatric Cardiomyopathy

Background: Hypertrophic cardiomyopathy (HCM) is the most common heritable cardiomyopathy and can predispose individuals to sudden death. Most pediatric HCM patients host a known pathogenic variant in a sarcomeric gene. With the increase in exome sequencing (ES) in clinical settings, incidental variants in HCM-associated genes are being identified more frequently. Diagnostic interpretation of incidental variants is crucial to enhance clinical patient management. We sought to use amino acid-level signal-to-noise (S:N) analysis to establish pathogenic hotspots in sarcomeric HCM-associated genes as well as to refine the 2015 American College of Medical Genetics (ACMG) criteria to predict incidental variant pathogenicity. Methods and Results: Incidental variants in HCM genes (MYBPC3, MYH7, MYL2, MYL3, ACTC1, TPM1, TNNT2, TNNI3, and TNNC1) were obtained from a clinical ES referral database (Baylor Genetics) and compared to rare population variants (gnomAD) and variants from HCM literature cohort studies. A subset of the ES cohort was clinically evaluated at Texas Children’s Hospital. We compared the frequency of ES and HCM variants at specific amino acid locations in coding regions to rare variants (MAF < 0.0001) in gnomAD. S:N ratios were calculated at the gene- and amino acid-level to identify pathogenic hotspots. ES cohort variants were re-classified using ACMG criteria with S:N analysis as a correlate for PM1 criteria, which reduced the burden of variants of uncertain significance. In the clinical validation cohort, the majority of probands with cardiomyopathy or family history hosted likely pathogenic or pathogenic variants. Conclusions: Incidental variants in HCM-associated genes were common among clinical ES referrals, although the majority were not disease-associated. Leveraging amino acid-level S:N as a clinical tool may improve the diagnostic discriminatory ability of ACMG criteria by identifying pathogenic hotspots

Health Literacy and Antidepressant Medication Adherence Among Adults with Diabetes: The Diabetes Study of Northern California (DISTANCE)

BACKGROUND: Previous studies have reported that health literacy limitations are associated with poorer disease control for chronic conditions, but have not evaluated potential associations with medication adherence. OBJECTIVE: To determine whether health literacy limitations are associated with poorer antidepressant medication adherence. DESIGN: Observational new prescription cohort follow-up study. PARTICIPANTS: Adults with type 2 diabetes who completed a survey in 2006 and received a new antidepressant prescription during 2006–2010 (N = 1,366) at Kaiser Permanente Northern California. MAIN MEASURES: Validated three-item self-report scale measured health literacy. Discrete indices of adherence based on pharmacy dispensing data according to validated methods: primary non-adherence (medication never dispensed); early non-persistence (dispensed once, never refilled); non-persistence at 180 and 365 days; and new prescription medication gap (NPMG; proportion of time that the person is without medication during 12 months after the prescription date). KEY RESULTS: Seventy-two percent of patients were classified as having health literacy limitations. After adjusting for sociodemographic and clinical covariates, patients with health literacy limitations had significantly poorer adherence compared to patients with no limitations, whether measured as early non-persistence (46 % versus 38 %, p < 0.05), non-persistence at 180 days (55 % versus 46 %, p < 0.05), or NPMG (41 % versus 36%, p < 0.01). There were no significant associations with primary adherence or non-persistence at 365 days. CONCLUSIONS: Poorer antidepressant adherence among adults with diabetes and health literacy limitations may jeopardize the continuation and maintenance phases of depression pharmacotherapy. Findings underscore the importance of national efforts to address health literacy, simplify health communications regarding treatment options, improve public understanding of depression treatment, and monitor antidepressant adherence. ELECTRONIC SUPPLEMENTARY MATERIAL: The online version of this article (doi:10.1007/s11606-013-2402-8) contains supplementary material, which is available to authorized users

Toward a Dynamic Conceptualization of Social Ties and Context: Implications for Understanding Immigrant and Latino Health

Researchers have posited that social ties and social support may contribute to better-than-expected health outcomes among Mexican immigrants vis-à-vis their US-born counterparts. However, in our review of studies examining social ties and health by immigration-related variables among this group, we found little support for this hypothesis. To better understand the social factors that contribute to the health of Mexicans in the United States, we conducted a qualitative analysis of social relationships and social context among first- and second-generation Mexican women. Our results highlight the interplay between immigration processes and social ties, draw attention to the importance of identity support and transnational social relationships, and suggest ways to reconceptualize the relationship between social contexts, social ties, and immigrant and Latino health