Avian β-defensin variation in bottlenecked populations : the Seychelles warbler and other congeners

β-defensins are important components of the vertebrate innate immune system responsible for encoding a variety of anti-microbial peptides. Pathogen-mediated selection is thought to act on immune genes and potentially maintain allelic variation in the face of genetic drift. The Seychelles warbler, Acrocephalus sechellensis, is an endemic passerine that underwent a recent bottleneck in its last remaining population, resulting in a considerable reduction in genome-wide variation. We genotyped avian β-defensin (AvBD) genes in contemporary (2000–2008) and museum samples (1876–1940) of the Seychelles warbler to investigate whether immunogenetic variation was lost through this bottleneck, and examined AvBD variation across four other Acrocephalus species with varying demographic histories. No variation was detected at four of the six AvBD loci screened in the post-bottleneck population of Seychelles warbler, but two silent nucleotide polymorphisms were identified at AvBD8 and one potentially functional amino-acid variation was observed at AvBD11. Variation in the Seychelles warbler was significantly lower than in the mainland migratory congeneric species investigated, but it similar to that found in other bottlenecked species. In addition, screening AvBD7 in 15 museum specimens of Seychelles warblers sampled prior to the bottleneck (1877–1905) revealed that this locus possessed two alleles previously, compared to the single allele in the contemporary population. Overall, the results show that little AvBD variation remains in the Seychelles warbler, probably as a result of having low AvBD diversity historically rather than the loss of variation due to drift associated with past demographic history. Given the limited pathogen fauna, this lack of variation at the AvBD loci may currently not pose a problem for this isolate population of Seychelles warblers, but it may be detrimental to the species’ long-term survival if new pathogens reach the population in the future

Cool, but Is It Credible? Adolescents' and Parents' Approaches to Genetic Testing

Abstract Advances in genomic science create both opportunities and challenges for future generations. Both adolescents and adults may benefit or be harmed by decisions they make in response to this new science. Using a qualitative descriptive design, the authors interviewed 22 adolescents (11 who were aged 14-17 years and 11 who were 18-21 years) and 11 parents to determine levels of knowledge and approaches to decision making. It was found that younger adolescents and their parents have very limited knowledge about genetics and genetic testing. Older adolescents have more complete information and consider a broader range of points in making decisions about hypothetical situations involving genetic testing. Adolescents and parents need much more information to enhance their ability to make decisions about using genetic services. These findings have implications for developing interventions and public health policy highlighted by the need for improved education about the benefits and harms of genetic testing

Response to Commentary: “The Signal and the Noise”

The final published version of this article is available at: https://doi.org/10.1111/camh.12534The purpose of this response is to clarify points about the steps we took in a systematic review of the literature and to reaffirm our findings.UT LibrariesNursingDell Medical Schoo

Parents’ Experiences and Perceptions of Healthcare Transition in Adolescents with Asthma: A Qualitative Study

Adolescence marks a significant transition from pediatric to adult healthcare, and parents play critical roles in supporting their adolescents with chronic conditions through this process. However, little is known about parents’ experiences, perceptions, and needs during this healthcare transition. This qualitative study explores the experiences and perceptions of parents regarding the care transition of their 16–17-year-old adolescents with asthma. Nineteen mothers participated in either a focus group or individual interviews, and a content analysis was conducted on the data. Parents expressed negative emotions and various concerns about their teens’ transition readiness and asthma management. A need for early transition training for both adolescents and parents was discussed. Overall, the complexity and challenges associated with the healthcare transition of adolescents with asthma take a toll on parents, particularly when their teens are not adequately prepared to manage asthma independently. Parents need appropriate anticipatory guidance regarding the transition and skills to navigate changing roles and negotiate asthma care responsibilities with their teens. Timely interventions and support strategies for both adolescents and parents are needed to ensure the successful healthcare transition of adolescents with asthma

Puberty blockers for transgender and gender diverse youth—a critical review of the literature

The final published version of this article is available at: https://doi.org/10.1111/camh.12437Background: Increasingly, early adolescents who are transgender or gender diverse (TGD) are seeking gender-affirming health care services. Pediatric health care providers supported by professional guidelines are treating many of these children with gonadotropin-releasing hormone agonists (GnRHa), which block pubertal development, giving the child and their family more time in which to explore the possibility of medical transition. Methods: We conducted a critical review of the literature to answer a series of questions about criteria for using puberty-blocking medications, the specific drugs used, the risks and adverse consequences and/or the positive outcomes associated with their use. We searched four databases: LGBT Life, PsycINFO, PubMed, and Web of Science. From an initial sample of 211 articles, we systematically reviewed 9 research studies that met inclusion/exclusion criteria. Results: Studies reviewed had samples ranging from 1-192 (N = 543). The majority (71%) required a diagnosis of gender dysphoria to qualify for puberty suppression and were administered medication during Tanner stages 2 through 4. Positive outcomes were decreased suicidality in adulthood, improved affect/psychological and improved social life. Adverse factors associated with use were changes in body composition, slow growth, decreased height velocity, decreased bone turnover, cost of drugs, and lack of insurance coverage. One study met all quality criteria and was judged ‘excellent’, five studies met the majority of quality criteria resulting in ‘good’ ratings, whereas three studies were judged fair and had serious risks of bias. Conclusion: Given the potentially life-saving benefits of these medications for transgender youth, it is critical that rigorous longitudinal and mixed methods research be conducted that includes stakeholders and members of the gender diverse community with representative samples.UT LibrariesNursingDell Medical Schoo