Background: Aboriginal Canadians are considered to be at increased risk of major trauma. However, population-based studies characterizing the distribution, determinants and outcomes of major trauma in this group are lacking. We sought to measure the impact of ethnicity, as reflected by Aboriginal status, on the incidence of severe trauma and to broadly define the epidemiologic characteristics of severe trauma among sta-

Therapeutic, III.

Purpose Deep phenotyping is an emerging trend in precision medicine for genetic disease. The shape of the face is affected in 30–40% of known genetic syndromes. Here, we determine whether syndromes can be diagnosed from 3D images of human faces. Methods We analyzed variation in three-dimensional (3D) facial images of 7057 subjects: 3327 with 396 different syndromes, 727 of their relatives, and 3003 unrelated, unaffected subjects. We developed and tested machine learning and parametric approaches to automated syndrome diagnosis using 3D facial images. Results Unrelated, unaffected subjects were correctly classified with 96% accuracy. Considering both syndromic and unrelated, unaffected subjects together, balanced accuracy was 73% and mean sensitivity 49%. Excluding unrelated, unaffected subjects substantially improved both balanced accuracy (78.1%) and sensitivity (56.9%) of syndrome diagnosis. The best predictors of classification accuracy were phenotypic severity and facial distinctiveness of syndromes. Surprisingly, unaffected relatives of syndromic subjects were frequently classified as syndromic, often to the syndrome of their affected relative. Conclusion Deep phenotyping by quantitative 3D facial imaging has considerable potential to facilitate syndrome diagnosis. Furthermore, 3D facial imaging of “unaffected” relatives may identify unrecognized cases or may reveal novel examples of semidominant inheritance.

The purpose of this study was to examine the perceived satisfaction and barriers to care for transgender patients after they decide to undergo gender-affirming surgery (GAS). Method: A survey consisting of 21 multiple-choice and short-answer questions was distributed to transgender organizations and online forums across Canada and the United States. The data were then analyzed using descriptive statistics. Results: There were 32 participants, 12 who identified as female to male and 20 as male to female. The mean age was 36 years, with a range of 18 to 81 years. The mean age of their first GAS was 33 years, and the range of wait time was 6 months to 7 years. Most of the participants received information about GAS from transgender websites and transgender surgery clinics (91% and 50%, respectively). Most participants (74%) felt like they had access to appropriate care and 89% felt like their surgeons provided enough information about GAS. There were 38% of participants who would change their experience with GAS. Participants stated several barriers toward receiving GAS: financial (73%), finding a physician (65%), and access to information (63%). Surgical transition was important to the quality of life for 91% of participants and 100% were happy with their decision to undergo GAS. Conclusions: Transgender participants demonstrated that GAS is important to their quality of life and this study showed significant barriers to GAS. Résumé Objectif : La présenteétude visait à examiner la perception de satisfaction et d'obstacles aux soins de la part des patients transgenres après qu'ils ont décidé de subir une opération de réassignation de genre (ORG). Méthodologie : Les chercheurs ont distribué un sondage composé de 21 questions à choix multiple et à réponse courte aux organisations transgenres et aux forums en ligne du Canada et des États-Unis. Ils ont ensuite analysé les données à l'aide de statistiques descriptives. Résultats : Au total, 32 personnes ont participé au sondage. Douze se sont identifiés comme hommes trans et 20, comme femmes trans. Ils avaient un âge moyen de 36 ans (plage de 18 à 81 ans). Ils avaient un âge moyen de 33 ans lors de leur première ORG et avaient dû attendre de six mois à sept ans pour la subir. La plupart des participants avaient reçu de l'information au sujet de l'ORG dans des sites pour les personnes transgenres et des cliniques chirurgicales de réassignation de genre (91 % et 50 %, respectivement). La plupart des participants (74 %) trouvaient qu'ils avaient eu accès à des soins appropriés et 89 % trouvaient que leur chirurgien leur avait fourni assez d'information sur l'ORG. Cependant, 38 % des participants auraient modifié leur expérience de l'ORG. Les participants ont souligné plusieurs obstacles à l'ORG : la question financière (73 %), la quête d'un médecin (65 %) et l'accès à l'information (63 %). La transition chirurgicaleétait importante pour la qualité de vie de 91 % des participants et ilsétaient tous heureux d'avoir subi une ORG. Conclusions : Les participants transgenres ont ...

The burden of injury mortality is significantly greater in Native children compared with non-Native children. Therefore, injury prevention strategies that target both intentional and unintentional injuries are needed.

Rotationplasty is a reconstructive, limb-sparing option for management of lower extremity bone deficiency. This technique involves an intercalary resection, followed by 180° rotation of the distal limb to allow the ankle to function as a knee joint when it is fitted with a modified below-knee prosthesis. Gait analysis and functional outcome studies have reported favorable results with rotationplasty compared with those of above-knee amputation. Moreover, patient satisfaction with rotationplasty is higher than with other limb salvage procedures. The primary drawback of this procedure is patient acceptance of the limb's appearance.

Hypertrophic scars, which commonly occur after thermal and traumatic injury of the skin, are a fibroproliferative disorder of the dermal matrix wherein components of the inflammatory process, including the fibrotic growth factor, transforming growth factor-beta, appear to activate dormant fibroblasts leading to cellular proliferation and excessive matrix synthesis. To investigate the potential beneficial role and mechanism of interferon alfa-2b in controlling excessive collagen production in hypertrophic scar, we measured dose response, time of onset, and duration of action in hypertrophic scar fibroblasts in vitro and compared them with those of site-matched normal fibroblasts obtained from four patients after thermal injury. Interferon alfa-2b reduced collagen protein synthesis and type I messenger RNA levels in both hypertrophic scar and normal fibroblasts after treatment, but these changes were apparent only after approximately 72 hours. Significant reductions in collagen synthesis occurred in four pairs of normal and hypertrophic scar fibroblasts (p < 0.05), accompanied by significant reductions in type I (p < 0.05) but not type III procollagen messenger RNA. Hypertrophic scar fibroblasts recovered completely from the effects of interferon alfa-2b on procollagen type I messenger RNA within 48 hours of cessation of treatment in contrast to normal skin fibroblasts, in which the reduction in type I procollagen messenger RNA by interferon alfa-2b persisted beyond 72 hours after treatment. These data suggest that interferon alfa-2b reduces collagen synthesis in both normal and hypertrophic fibroblasts but the hypertrophic fibroblast may remain less sensitive to its effects.

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