Dennis Rasmussen (hillkick3)

KBG syndrome (KBGS) is a rare Mendelian condition caused by heterozygous mutations in ANKRD11 or microdeletions in chromosome 16q24.3 encompassing the gene. KBGS is clinically variable, which makes its diagnosis difficult in a significant proportion of cases. The present study aims at delineating the cognitive profile and adaptive functioning of children and adolescents with KBGS. Twenty-four Italian KBGS with a confirmed diagnosis by molecular testing of the causative ANKRD11 gene were recruited to define both cognitive profile as measured by the Wechsler Intelligence Scale and adaptive functioning as measured by Vineland Adaptive Behavior Scales-II Edition or the Adaptive Behavior Assessment System-II Edition. Among children and adolescents, 17 showed intellectual disability, six presented borderline intellectual functioning and only one child did not show cognitive defects. Concerning cognitive profile, results revealed significant differences between the four indexes of Wechsler Intelligence Scale. Namely, the verbal comprehension index was significantly higher than the perceptual reasoning index, working memory index and the processing speed index. Concerning adaptive functioning, no difference between the domains was found. In conclusion, in our cohort, a heterogeneous profile has been documented in cognitive profiles, with a spike on verbal comprehension, while a flat-trend has emerged in adaptive functioning. Our cognitive and adaptive characterization drives professionals to set the best clinical supports, capturing the complexity and heterogeneity of this rare condition.Photodynamic therapy (PDT) with methyl aminolevulinate (MAL) is a popular treatment for actinic keratoses (AK), and several PDT treatment modalities with similar cure rates are in use. The effect relies on the activation of protoporphyrin IX (PpIX) in premalignant cells. This study aimed to measure PpIX during each treatment modality to determine the minimal PpIX activation and shortest exposure time for optimal cure rate. In four different treatment modalities, we established the PpIX formation up to three hours after MAL application without illumination and measured the speed of PpIX photoactivation during 9 min of red light (37 J/cm2). read more The level of PpIX three hours after MAL application was set to 100 PpIX units. In comparison, 85 PpIX units were formed during daylight PDT, 57 PpIX units during pulse PDT, and 52 PpIX units without any curettage prior to MAL. The activation of 50 PpIX units should, therefore, be enough to obtain a full effect on AK. Further, red light illumination may be shortened from 9 min to 1-2 min. The results indicate that PDT can be performed successfully with half the illumination time used in daylight PDT today and with one fourth of the illumination time used in classical PDT.Blunt trauma is a potentially life-threatening injury that requires prompt diagnostic examination and therapeutic intervention. Nevertheless, how impactful a rapid response time is on mortality or functional outcomes has not been well-investigated. This study aimed to evaluate effects of earlier door-to-computed tomography time (D2CT) and door-to-bleeding control time (D2BC) on clinical outcomes in severe blunt trauma. This was a single-center, retrospective cohort study of patients with severe blunt trauma (Injury Severity Score > 16). To assess the effect of earlier D2CT and D2BC on clinical outcomes, we conducted multivariable regression analyses with a consideration for nonlinear associations. Among 671 patients with severe blunt trauma who underwent CT scanning, 163 patients received an emergency bleeding control procedure. The median D2CT and D2BC were 19 min and 57 min, respectively. In a Cox proportional hazard regression model, earlier D2CT was not associated with improved 28-day mortality (p = 0.30), but it was significantly associated with decreased mortality from exsanguination (p = 0.003). Earlier D2BC was significantly a