Genomic Profiling of Vulvar Lichen Sclerosus Patients Shows Possible Pathogenetic Disease Mechanisms.

OBJECTIVE: Vulvar lichen sclerosus (LS) is known to occur in families, suggesting a genetic link. Genomic profiling of patients with vulvar LS was investigated to find underlying pathogenetic mechanisms, with the hope that targeted therapies and future clinical research will arise. METHODS: Two unrelated families with vulvar LS were investigated using whole-exome sequencing. Five affected sisters from 1 family were compared with their unaffected paternal aunt (unaffected control). A mother-daughter pair from a second affected family was compared with the first family. The results of the sequencing were compared with population-specific allele frequency databases to prioritize potential variants contributing to vulvar LS development. RESULTS: Recurrent germ-line variants in 4 genes were identified as likely to be deleterious to proper protein function in all of the 7 affected patients, but not in the unaffected control. The genes with variants included CD177 (neutrophil activation), CD200 (inhibitory signal to macrophages), ANKRD18A (ankyrin repeat protein, epigenetic regulation), and LATS2 (co-repressor of androgen signaling). CONCLUSIONS: Although many providers may see a mother and daughter with vulvar LS, this condition is rarely seen in multiple family members who are available for genetic testing. This is the first report to detail genomic profiling related to a familial association of vulvar LS.

Disorders of sex development (DSD): Clinical service delivery in the United States.

Following the principles of care recommended in the 2006 Consensus Statement on Disorders of Sex Development (DSD), along with input from representatives of peer support and advocacy groups, this study surveyed DSD clinical management practices at healthcare facilities in the United States. DSD are congenital conditions in which development of chromosomal, gonadal, or anatomic sex is atypical. Facilities providing care for patients with DSD were targeted for participation. Specialty providers completed a survey with questions in six broad categories: Institution Information, Nomenclature and Care Guidelines, Interdisciplinary Services, Staff and Community Education, DSD Management, and Research. Twenty-two of 36 targeted sites (61%) participated. Differences were observed between sites with regard to what conditions were considered to be DSD. All sites reported some degree of involvement of pediatric urology and/or surgery and pediatric endocrinology in the care of DSD patients. Gynecology and neonatology were most frequently not represented. Wide variation was observed across sites in continuing education standards, obtaining informed consent for clinical procedures, and in specific clinical management practices. This survey is the first to assess DSD clinical management practices in the United States. The findings establish a baseline of current practices against which providers delivering care to these patients and their families can benchmark their efforts. Such surveys also provide a practical framework for collaboration in identifying opportunities for change that enhance health and quality of life outcomes for patients and families affected by DSD.

Impact of Doximity Residency Rankings on Emergency Medicine Applicant Rank Lists.

INTRODUCTION: This study investigates the impact of the Doximity rankings on the rank list choices made by residency applicants in emergency medicine (EM). METHODS: We sent an 11-item survey by email to all students who applied to EM residency programs at four different institutions representing diverse geographical regions. Students were asked questions about their perception of Doximity rankings and how it may have impacted their rank list decisions. RESULTS: Response rate was 58% of 1,372 opened electronic surveys. This study found that a majority of medical students applying to residency in EM were aware of the Doximity rankings prior to submitting rank lists (67%). One-quarter of these applicants changed the number of programs and ranks of those programs when completing their rank list based on the Doximity rankings (26%). Though the absolute number of programs changed on the rank lists was small, the results demonstrate that the EM Doximity rankings impact applicant decision-making in ranking residency programs. CONCLUSION: While applicants do not find the Doximity rankings to be important compared to other factors in the application process, the Doximity rankings result in a small change in residency applicant ranking behavior. This unvalidated ranking, based principally on reputational data rather than objective outcome criteria, thus has the potential to be detrimental to students, programs, and the public. We feel it important for specialties to develop consensus around measurable training outcomes and provide freely accessible metrics for candidate education.

Effect of Doximity Residency Rankings on Residency Applicants' Program Choices.

INTRODUCTION: Choosing a residency program is a stressful and important decision. Doximity released residency program rankings by specialty in September 2014. This study sought to investigate the impact of those rankings on residency application choices made by fourth year medical students. METHODS: A 12-item survey was administered in October 2014 to fourth year medical students at three schools. Students indicated their specialty, awareness of and perceived accuracy of the rankings, and the rankings' impact on the programs to which they chose to apply. Descriptive statistics were reported for all students and those applying to Emergency Medicine (EM). RESULTS: A total of 461 (75.8%) students responded, with 425 applying in one of the 20 Doximity ranked specialties. Of the 425, 247 (58%) were aware of the rankings and 177 looked at them. On a 1-100 scale (100=very accurate), students reported a mean ranking accuracy rating of 56.7 (SD 20.3). Forty-five percent of students who looked at the rankings modified the number of programs to which they applied. The majority added programs. Of the 47 students applying to EM, 18 looked at the rankings and 33% changed their application list with most adding programs. CONCLUSION: The Doximity rankings had real effects on students applying to residencies as almost half of students who looked at the rankings modified their program list. Additionally, students found the rankings to be moderately accurate. Graduating students might benefit from emphasis on more objective characterization of programs to assess in light of their own interests and personal/career goals.

Parental Reports of Stigma Associated with Child's Disorder of Sex Development.

Disorders of sex development (DSD) are congenital conditions in which chromosomal, gonadal, or anatomic sex development is atypical. DSD-associated stigma is purported to threaten positive psychosocial adaptation. Parental perceptions of DSD-related stigma were assessed in 154 parents of 107 children (newborn-17 years) questionnaire comprising two scales, child-focused and parent-focused, and three subscales, perceived stigmatization, future worries, and feelings about the child's condition. Medical chart excerpts identified diagnoses and clinical management details. Stigma scale scores were generally low. Parents of children with DSD reported less stigma than parents of children with epilepsy; however, a notable proportion rated individual items in the moderate to high range. Stigma was unrelated to child's age or the number of DSD-related surgeries. Child-focused stigma scores exceeded parent-focused stigma and mothers reported more stigma than fathers, with a moderate level of agreement. Within 46,XY DSD, reported stigma was higher for children reared as girls. In conclusion, in this first quantitative study of ongoing experiences, DSD-related stigma in childhood and adolescence, while limited in the aggregate, is reported at moderate to high levels in specific areas. Because stigma threatens positive psychosocial adaptation, systematic screening for these concerns should be considered and, when reported, targeted for psychoeducational counseling.