Tollefson, Megha M.

Abstract Purpose Medical school applicants engage in informal preference signaling by submitting letters of intent (which include a commitment to accept an admission offer) and letters of interest (which include no such commitment). Commitments are unenforceable and are based on an honor system. Applicants submit letters to medical schools before receiving financial aid offers, potentially disadvantaging low socioeconomic status (SES) applicants. This study describes postinterview communication patterns and analyzes associations among applicant demographics, letter submission rates, and admissions outcomes. It tests the hypothesis that low SES is negatively associated with letter of intent submission. Method The authors collected postinterview communications from all interviewees at the Mayo Clinic Alix School of Medicine during 3 admissions cycles (2021-2023). Authors developed and validated codebook definitions for the 2 letter types. SES was defined using the Association of American Medical Colleges education-occupation indicator. Letter submission rates were compared using mixed-effects logistic regression. Results Of 1,313 applicants, 1,109 submitted 1 letter or more. The sample included 257 (19.6%) low-SES and 1,056 (80.4%) non–low-SES applicants. Coders showed excellent interrater reliability (Gwet AC1 range, 0.89-0.995). Low-SES applicants submitted letters of intent with similar frequency to higher-SES applicants (33.9% [87/257] vs 33.5% [354/1,056]; odds ratio, 1.02; 95% CI, 0.76-1.37; P = .88) and submitted letters of interest at similar frequency (55.6% [143/257] vs 59.5% [628/1,056]; odds ratio, 0.86; 95% CI, 0.65-1.13; P = .27). Among 116 applicants who wrote letters of intent and were offered admission, 20 (17.2%) declined the admission offer. Conclusions There was no difference in letter of intent submission based on SES, and letter of intent submission was positively associated with matriculation. Among letter of intent writers who were offered admission, 1 in 6 declined. Undergraduate medical education may wish to consider a formalized preference signaling system to promote an honest and transparent application process.

ABSTRACTBackgroundRecent data demonstrate increased incidence of Infantile hemangioma (IH) over the past several decades. However, little is known about current trends in healthcare utilization and medication prescribing in patients with IH in the United States (US), particularly since the discovery and uptake of beta‐blockers as standard of care treatment.MethodsWe examined US ambulatory visits in infants (age ≤ 1 years) with any hemangioma (International Classification of Diseases [ICD] 9th Revision codes 228.00, 228.01, or 228.09 in the National Ambulatory Medical Care Survey [NAMCS] 2009–2015, and ICD 10th Revision code D18.0 in the NAMCS 2016–2019). We further trended the prescription of topical and systemic IH treatments during this period.ResultsYears of visit were bundled into 5‐year bins to minimize standard errors for the trend tests. The number of visits related to IH significantly increased from 878,725 (95% CI: 439,376–1,318,074) in 2009–2013 to 1,431,913 (95% CI: 940,036–1,923,790, p = 0.022) in 2014–2019. The number of visits with resulting timolol prescription concurrently significantly increased from 16,279 (95% CI: 0–40,600) to 424,845 (95% CI: 380,786–468,903, p < 0.001), while the increase in the number of propranolol prescriptions was nonsignificant (from 162,323 [95% CI: 0–331,537] to 208,139 [95% CI: 0–558,709], p = 0.652).ConclusionsThe US healthcare utilization for IH has been on the rise between 2009 and 2019, likely owing to increased awareness, earlier diagnosis, and enhanced therapies. While topical beta‐blocker prescriptions have significantly increased during that period of time, systemic beta‐blocker prescription rates have not.

Atopic dermatitis affects 20% to 25% of children and has significant impact on quality of life of patients and families. Recent studies of the pathogenesis of AD highlight the interplay between a defective skin barrier, immune dysfunction, and the cutaneous microbiome. Standard of care for AD treatment includes topical corticosteroids for active disease and moisturization to repair the barrier defect. Emerging treatments include dupilumab and Janus kinase (JAK) inhibitors. Reduction of triggers and proactive treatment with topical corticosteroids and/or topical calcineurin inhibitors can reduce flares. Treatment plans should be clear and as simple as possible to maximize adherence.

ABSTRACTBackgroundMany vascular anomalies harbor postzygotic somatic variants in GNAQ and GNA11; however, the phenotype of specific G‐protein variants has not been well described. We report the clinical characteristics of 17 patients with a GNA11 R183C variant.MethodsThis case series is derived from a multinational cohort of vascular anomaly patients whose pathogenic mutations were identified using high‐depth next generation sequencing. Data include vascular anomaly features, imaging reports, and extracutaneous manifestations of the GNA11 R183C variant.ResultsWe identified 17 subjects (median age 18 years [range 6–67]) with somatic GNA11 R183C variant. All patients had vascular lesions of the skin that presented as pink‐to‐red in children and deeper red in adults. Most lesions were large, poorly demarcated, and reticulated patches that were often bilaterally distributed. Nevus anemicus was observed in 53% (N = 9) and dermal melanocytosis in 13.3% (N = 2) of individuals. 82% (N = 14) of patients had limb growth discrepancies, and 1 patient had marked thoracic hypoplasia. 47% (N = 8) of patients had facial involvement, and 41% (N = 7) had forehead involvement. One patient experienced seizures due to right hemispheric leptomeningeal angiomatosis consistent with Sturge–Weber syndrome. Other findings included glaucoma (29%, N = 5) and psychomotor delay (29%, N = 5).ConclusionThese findings contribute to our understanding of the clinical spectrum of GNA11 R183C capillary malformations (CMs); patients characteristically present with extensive, bilateral, poorly demarcated, pink‐to‐red CMs associated with nevus anemicus. Glaucoma and growth discrepancies (overgrowth or undergrowth) are common. Leptomeningeal angiomatosis and developmental delay can occur, appearing potentially less prevalent and severe than GNAQ‐associated disease.

AbstractBackgroundInfantile hemangiomas (IHs), the most prevalent vascular tumors in infancy, are generally understood to be absent at birth, appearing in the initial weeks of life during their proliferative stage. While the classic presentation is recognizable, the precursor lesion of IHs may be misinterpreted as other entities, including vascular malformations.MethodsA retrospective, single‐center study was conducted, examining neonates with photographed IH precursor lesions on day of life (DOL) 1 and matured classical IHs. The study spanned from 2017 to 2023.ResultsThe case series is comprised of nine neonates all exhibiting precursor lesions on DOL 1. A comparative display of photographs featuring precursor lesions and classic IH is presented. Further tabulated information for each case includes IH locations, subsequent treatment modalities, and further diagnostic workup if necessary.ConclusionsImproving recognition of precursor lesions increases diagnostic accuracy, decreasing unnecessary workup. This, in turn, allows dermatologists to confidently employ close follow‐up management strategies. Additionally, in cases of extensive involvement, recognition of the precursor lesion allows for expedited investigation for syndromes such as PHACE (posterior fossa malformations, hemangioma, arterial anomalies, coarctation of the aorta/cardiac defects, and eye abnormalities) and LUMBAR (lower body IH, urogential anomalies, ulceration, myelopathy, bony deformities, anorectal malformations, arterial anomalies, and renal anomalies).

Abstract We present the case of a 3-week-old girl with LUMBAR syndrome, a rare condition involving segmental infantile hemangiomas (IH) in the lumbosacral region, myelopathy, and other congenital anomalies. The patient developed severe ulceration of a left buttock IH. Treatment included broad-spectrum antibiotics, debridement, and a laparoscopic temporary colostomy. Propranolol therapy, wound care, and fecal diversion led to successful healing of the ulceration. The report highlights the challenges of ulcerated IH in the perineal area due to exposure to urine and stool. The comprehensive approach resulted in positive outcomes, including the successful surgical treatment of spinal dysraphism, successful colostomy reversal, and developmental progress. This case contributes insight into the surgical management of severe perianal ulcerated IH associated with LUMBAR syndrome, highlighting the importance of a tailored surgical approach with a multidisciplinary framework.

Background Delivery of dermatologic care through telemedicine was accelerated by the COVID-19 pandemic. We sought to analyze the teledermatology experience across Mayo Clinic's health care system to identify strengths and limitations of teledermatology. Methods Electronic health records of dermatology televisits were reviewed from multiple U.S. Mayo Clinic sites from January 2020 through January 2021. Results A total of 13,181 dermatology televisits were conducted in 6468 unique patients. Patients were primarily female (60.2%), and mean age of all patients was 34.1 years. Synchronous / live video conferencing visits were the most common (40.0%) telecare modality. Synchronous / live audio conferencing and asynchronous / store-and-forward visits comprised 33.0% and 27.0% of appointments. In total, 3944 televisits (29.9%) were successfully concluded via a single appointment. An in-person appointment was needed for 1693 patients (26.2%) after their initial televisit. For patients with a single televisit, synchronous / live video conferencing was the most common virtual modality (58.0% vs 32.2% of patients with multiple visits, p < 0.001). Patients needing in-person follow-up visits were slightly older than those who did not (mean [SD], 38.8 [22.3] vs 35.0 [23.6] years; p < 0.001) but without any sex-based difference. Around one-third of patients needed an in-person follow-up visit after their initial asynchronous / store-and-forward visit which was higher when compared with synchronous / live audio and video conferencing. Conclusion Single dermatology televisits effectively managed nearly one-third of patients who did not require in-person follow-up. An initial synchronous / live video conferencing was more likely to yield a single clinical encounter, whereas asynchronous / store-and-forward visits required more in-person follow-up. Future studies are required that focus on dermatology-specific cost, diagnoses, access, quality of care, and outcomes.

The PI3K enzymes modify phospholipids to regulate cell growth and differentiation. Somatic variants in PI3K are recurrent in cancer and drive a proliferative phenotype. Somatic mosaicism of PIK3R1 and PIK3CA are associated with vascular anomalies and overgrowth syndromes. Germline PIK3R1 variants are associated with varying phenotypes, including immunodeficiency or facial dysmorphism with growth delay, lipoatrophy, and insulin resistance associated with SHORT syndrome. There has been limited study of the molecular mechanism to unify our understanding of how variants in PIK3R1 drive both undergrowth and overgrowth phenotypes. Thus, we compiled genomic variants from cancer and rare vascular anomalies and sought to interpret their effects using an unbiased physics-based simulation approach for the protein complex. We applied molecular dynamics simulations to mechanistically understand how genetic variants affect PIK3R1 and its interactions with PIK3CA. Notably, iSH2 genetic variants associated with undergrowth destabilize molecular interactions with the PIK3CA receptor binding domain in simulations, which is expected to decrease activity. On the other hand, overgrowth and cancer variants lead to loss of inhibitory interactions in simulations, which is expected to increase activity. We find that all disease variants display dysfunctions on either structural characteristics or intermolecular interaction energy. Thus, this comprehensive characterization of novel mosaic somatic variants associated with two opposing phenotypes has mechanistic importance and biomedical relevance and may aid in future therapeutic developments.

AbstractBackground/ObjectiveThere is limited information about the potential relationship of socioeconomic status (SES) with acne in preadolescents. Our objective was to assess the possible relationship between SES and preadolescent acne.MethodsA population‐based retrospective cohort study was conducted to identify Olmsted County, Minnesota, residents with an initial acne diagnosis between 7 and ≤12 years old during 2010 to 2018 using the Rochester Epidemiology Project. For each acne case, we randomly selected 2 sex‐ and age‐matched controls without an acne diagnosis from the county. Individual HOUsing‐based SocioEconomic Status index (HOUSES) derived from real property data was used to evaluate SES, represented as four quartiles with higher quartile representing higher SES.ResultsA total of 604 patients met the criteria. HOUSES distribution significantly differed between cases and controls (p = .001); a higher proportion of acne cases were in quartile 4 (42.2% vs. 32.7%), indicating higher SES. Race and ethnicity did not significantly differ between cases and controls. Among cases and controls, 74.5% and 72.3% were White, respectively. Study limitations include its retrospective design, only patients who visited a physician were included, and Olmsted County residents are largely non‐Hispanic White.ConclusionPreadolescents diagnosed with acne have a higher SES than those without diagnosed acne, highlighting a potential disparity in access to care and appropriate diagnosis.

ImportanceMorphea is an insidious inflammatory disorder of the skin and deeper tissues. Determining disease activity is challenging yet important to medical decision-making and patient outcomes.ObjectiveTo develop and validate a scoring tool, the Morphea Activity Measure (MAM), to evaluate morphea disease activity of any type or severity that is easy to use in clinical and research settings.Design, Setting, and ParticipantsThis pilot diagnostic study was conducted from September 9, 2019, to March 6, 2020, in 2 phases: development and validation. During the development phase, 14 morphea experts (dermatologists and pediatric dermatologists) used a Delphi consensus method to determine items that would be included in the MAM. The validation phase included 8 investigators who evaluated the tool in collaboration with 14 patients with pediatric morphea (recruited from a referral center [Medical College of Wisconsin]) during a 1-day in-person meeting on March 6, 2020.Main Outcomes and MeasuresDuring the development phase, online survey items were evaluated by experts in morphea using a Likert scale (score range, 0-10, with 0 indicating not important and 10 indicating very important); agreement was defined as a median score of 7.0 or higher, disagreement as a median score of 3.9 or lower, and no consensus as a median score of 4.0 to 6.9. During the validation phase, reliability (interrater and intrarater agreement using intraclass correlation coefficients), validity (using the content validity index and κ statistics as well as correlations with the modified Localized Scleroderma Severity Index and the Physician Global Assessment of Activity using Spearman ρ coefficients), and viability (using qualitative interviews of investigators who used the MAM tool) were evaluated. Descriptive statistics were used for quantitative variables. Data on race and ethnicity categories were collected but not analyzed because skin color was more relevant for the purposes of this study.ResultsAmong 14 survey respondents during the development phase, 9 (64.3%) were pediatric dermatologists and 5 (35.7%) were dermatologists. After 2 rounds, a final tool was developed comprising 10 items that experts agreed were indicative of morphea activity (new lesion in the past 3 months, enlarging lesion in the past 3 months, linear lesion developing progressive atrophy in the past 3 months, erythema, violaceous rim or color, warmth to the touch, induration, white-yellow or waxy appearance, shiny white wrinkling, and body surface area). The validation phase was conducted with 14 patients (median age, 14.5 years [range, 8.0-18.0 years]; 8 [57.1%] female), 2 dermatologists, and 6 pediatric dermatologists. Interrater and intrarater agreement for MAM total scores was good, with intraclass correlation coefficients of 0.844 (95% CI, 0.681-0.942) for interrater agreement and 0.856 (95% CI, 0.791-0.901) for intrarater agreement. Correlations between the MAM and the modified Localized Scleroderma Severity Index (Spearman ρ = 0.747; P &amp;lt; .001) and the MAM and the Physician Global Assessment of Activity (Spearman ρ = 0.729; P &amp;lt; .001) were moderately strong. In qualitative interviews, evaluators agreed that the tool was easy to use, measured morphea disease activity at a single time point, and should be responsive to changes in morphea disease activity over multiple time points.Conclusions and RelevanceIn this study, the MAM was found to be a reliable, valid, and viable tool to measure pediatric morphea activity. Further testing to assess validity in adults and responsiveness to change is needed.