Mental Health Burden After Injury: It's About More than Just Posttraumatic Stress Disorder.

OBJECTIVE: Assess the prevalence of anxiety, depression, and posttraumatic stress disorder (PTSD) after injury and their association with long-term functional outcomes. BACKGROUND: Mental health disorders (MHD) after injury have been associated with worse long-term outcomes. However, prior studies almost exclusively focused on PTSD. METHODS: Trauma patients with an injury severity score ≥9 treated at 3 Level-I trauma centers were contacted 6-12 months post-injury to screen for anxiety (generalized anxiety disorder-7), depression (patient health questionnaire-8), PTSD (8Q-PCL-5), pain, and functional outcomes (trauma quality of life instrument, and short-form health survey)). Associations between mental and physical outcomes were established using adjusted multivariable logistic regression models. RESULTS: Of the 531 patients followed, 108 (20%) screened positive for any MHD: of those who screened positive for PTSD (7.9%, N = 42), all had co-morbid depression and/or anxiety. In contrast, 66 patients (12.4%) screened negative for PTSD but positive for depression and/or anxiety. Compared to patients with no MHD, patients who screened positive for PTSD were more likely to have chronic pain {odds ratio (OR): 8.79 [95% confidence interval (CI): 3.21, 24.08]}, functional limitations [OR: 7.99 (95% CI: 3.50, 18.25)] and reduced physical health [ß: -9.3 (95% CI: -13.2, -5.3)]. Similarly, patients who screened positive for depression/anxiety (without PTSD) were more likely to have chronic pain [OR: 5.06 (95% CI: 2.49, 10.46)], functional limitations [OR: 2.20 (95% CI: 1.12, 4.32)] and reduced physical health [ß: -5.1 (95% CI: -8.2, -2.0)] compared to those with no MHD. CONCLUSIONS: The mental health burden after injury is significant and not limited to PTSD. Distinguishing among MHD and identifying symptom-clusters that overlap among these diagnoses, may help stratify risk of poor outcomes, and provide opportunities for more focused screening and treatment interventions.

Chronic rejection of human face allografts.

Face vascularized composite allografts (FVCAs) have helped patients with severe facial disfigurement, with acute rejection now largely controlled through iatrogenic immunosuppression. However, little is known regarding the incidence and mechanism(s) of more long-term pathologic alterations in FVCAs that may affect function and graft durability. Protocol surveillance biopsy specimens for up to an 8-year interval in 7 patients who received FVCAs at our institution revealed histopathologic evidence of chronic rejection. Clinical manifestations included features of premature aging, mottled leukoderma accentuating suture lines, telangiectasia, and dryness of nasal mucosa. Pathologic changes consisted of epidermal thinning accompanied by discrete foci of lymphocyte-mediated cytotoxicity, hyperkeratosis, follicular plugging, vascular ectasia, and sclerosis beneath the epidermal layer associated with collagen type I deposition. Genomic interrogation and immunohistochemistry of sclerotic zones revealed upregulation of the AP-1 pathway components, JunB and c-Fos, previously implicated in overproduction of type I dermal collagen in the setting of systemic sclerosis. We conclude that some patients develop chronic rejection in FVCAs with striking similarities to alterations seen in certain autoimmune cutaneous disorders (lupus erythematosus and scleroderma/chronic sclerodermoid graft-versus-host disease). Identification of relevant pathways and genes, such as JunB and c-Fos, may provide new targets for preventative therapies for chronic immune-mediated changes in vascularized composite allografts.

Novel genetic mutations in a sporadic port-wine stain.

IMPORTANCE Port-wine stains (PWSs) are common congenital cutaneous capillary malformations. A somatic GNAQ mutation was recently identified in patients with sporadic PWSs and Sturge-Weber syndrome. However, subsequent studies to confirm or extend this observation are lacking.OBSERVATIONS We report a long-standing, unilateral facial PWS of a man in his early 70s confirmed by histopathological analysis. Staged surgical excision of the vascular malformation was performed, and genomic DNA was extracted from the vascular malformation specimen and normal skin. Targeted next-generation sequencing of the coding sequence of 275 known cancer genes including GNAQ was performed in both specimens. A single-nucleotide variant(c.548G>A, p.Arg183Gln) in GNAQ was identified in the PWS-affected tissue but not in the normal skin sample. In addition, this sequencing approach uncovered several additional novel somatic mutations in the genes SMARCA4, EPHA3, MYB, PDGFR-ß, and PIK3CA.CONCLUSIONS AND RELEVANCE Our findings confirm the presence of somatic mutations inGNAQ in the affected skin of a patient with congenital PWS, as well as alterations in several other novel genes of possible importance in the pathogenesis of PWS that may also offer substantial therapeutic targets.