IMPORTANCE To our knowledge, this is the first study on rosacea to formally define genetic and environmental contributions. OBJECTIVES To study a cohort of identical and fraternal twins to determine whether genetic factors contribute to rosacea development and, if genetic factors are present, quantitatively estimate the genetic contribution, as well as to identify environmental factors that correlate with rosacea by controlling for genetic susceptibility. DESIGN, SETTING, AND PARTICIPANTS Identical and fraternal twins were surveyed regarding risk factors implicated in rosacea. Faculty dermatologists determined a rosacea score for each twin participant according to the National Rosacea Society (NRS) grading system. Data were collected at the annual Twins Days Festival in Twinsburg, Ohio, on August 4-5, 2012, and August 2-3, 2013. Analysis was conducted for several months after each meeting. A cohort of 550 twin individuals, with most from Ohio, Pennsylvania, and the northeastern United States, participated. MAIN OUTCOMES AND MEASURESThe NRS score and rosacea subtype were assessed using the NRS grading system and physical examination by board-certified dermatologists. RESULTSAmong the 275 twin pairs (550 individuals), there were 233 identical twin pairs with a mean rosacea score of 2.46 and 42 fraternal twin pairs with a mean rosacea score of 0.75. We observed a higher association of NRS scores between identical vs fraternal twins (r = 0.69 vs r = 0.46; P = .04), demonstrating a genetic contribution. Using the ACE model (proportion of variance in a trait heritable secondary to additive genetics [A] vs the proportions due to a common environment [C] and unique environment [E]), we calculated this genetic contribution to be 46%. A higher NRS score was also significantly associated with the following factors: age (r = 0.38; P < .001) and lifetime UV radiation exposure (r = 0.26; P < .001). These associations remained after use of propensity score matching to adjust for multicollinearity. Other correlated variables included body mass index (r = 0.21; P < .001), smoking (r = 0.10; P < .02), alcohol consumption (r = 0.11; P = .01), cardiovascular comorbidity (r = 0.17; P < .001), and skin cancer comorbidity (r = 0.19; P < .001). CONCLUSIONS AND RELEVANCEThe study of twins allows us to separate genetic susceptibility and the influence of environmental factors affecting rosacea. We found that approximately half of the contribution to the NRS score could be accounted for by genetics and the other half by environment. We identified correlations between rosacea and UV radiation exposure, alcohol, smoking, skin cancer history, cardiac comorbidity, and age. These findings may help improve current management and expectations of individuals affected by rosacea.
The importance of increasing scholarly activity has been highlighted among residency programs currently accredited by the American Osteopathic Association (AOA) to ensure a smooth transition to the single accreditation system. The Scholar 7 program, a series of seven 2-hour sessions, was created to aid faculty and residents in the pursuit of scholarly work and to facilitate change in an entire community hospital system's environment by creating a self-replicating scholarly culture in a timely and cost-efficient manner. Skills were taught by means of preparation and submission of a research protocol to the institutional review board (IRB) along with grant proposals. The authors tracked scholarly work, IRB submissions, and grants awarded to participants during the 2015-2016 academic year. The results were compared in a post-hoc fashion with previous classes since 2007-2008 within the same hospitals system. The Scholar 7 program successfully aided faculty in achieving their required pursuit of scholarly work in 8 months. This program has the potential to help AOA-focused residency programs meet the scholarly requirements of the Accreditation Council for Graduate Medical Education.
RATIONALE: About 20% of patients with ADA deficiency have a ''delayed-onset'' presentation beyond the first year of life, with fewer infectious complications than those with ADA deficiency and SCID. A 4year-old girl presented with a history of recurrent infections, panhypogammaglobulinemia and CD4 lymphopenia but normal CD8 counts. Low copy numbers of CMV and adenovirus DNA were detected in the blood. METHODS: ADA activity was measured in erythrocytes and sorted T cells. Genomic DNA was utilized to sequence the ADA gene, and an identified missense variant was sequenced in sorted peripheral blood cell subpopulations. RESULTS: ADA enzyme activity in RBCs was 0.1 nmol/h/mg (reference range 63 +/-41). Genomic DNA showed two known mutations: c.955-959delGAAGA and c.467 G>A, which predicts the R156H substitution. ADA activity in sorted CD8 T cells was normal. Wild-type c.467 G was present in more than 50% of sequences from CD8+ T cells, indicating a somatic cell reversion. IgG and ADA replacement resulted in clinical improvement. CONCLUSIONS: R156H is among several ADA missense mutations that cause incomplete loss of ADA activity, leading to delayed-onset disease with less severe infectious complications. Somatic reversion to WT has also been associated with a milder phenotype. In our patient, functional CD8 T cells in which reversion of R156H to WT had occurred may have resulted in the partial control of viral infections, and specific antigenic stimulation may in turn have led to expansion of the reverted CD8 T cells. Additional work will attempt to identify the developmental stage where reversion occurred and the functional consequences.
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