Kindler syndrome with palmoplantar hyperhidrosis and blonde hair

Kindler syndrome (KS) is a very rare genodermatosis characterized by acral blistering starting in infancy along with photosensitivity, progressive poikiloderma, cutaneous atrophy, and a variable degree of mucosal involvement. A large number of other cutaneous and extracutaneous features have been described, which aid in diagnosing it. Generally KS has been found to be associated with hypohidrosis/anhidrosis. We herein present a rare case of KS with unique features

An Approach for Selecting a Model for the Assessment of Potentially Contaminated Sites

Assessment of potentially contaminated sites (PCS) can be expensive; hence, simple and less demanding methods and models are required. This work attempts to provide an approach that can aid in selecting the most appropriate model for the PCS. The developed method uses over 100 field site data to evaluate four test models (analytical/empirical) that provide the maximum plume length (Lmax), which is used as a principal model ranking quantity in this work. Analysis of site data shows that field plume length (Lf) follows a log-normal distribution. Subsequently, Lmax is delineated with respect to Lf using a threshold probability as underestimating, overestimating, and overly-overestimating. Akaike information criterion (AIC) and analytical hierarchy process (AHP) are considered to support the threshold approach results. The classical AIC is modified (to AICmod) to fit the term represented by the difference between Lf and Lmax. Additionally, the threshold factors as a product of subjective weights are added to the AICmod. Using Lf and Lmax, the AICmod provides a distinct ranking of the test models. For the AHP approach, the goodness of fit, underestimation, overly overestimation, and model complexity are the four chosen criteria. Similar to AICmod, the AHP approach provides a distinct ranking of the test models. The final decision on the best fitting model can be made on user criteria following the scheme developed in this work

Molecular organization and dynamics of the melatonin MT1 receptor/RGS20/G(i) protein complex reveal asymmetry of receptor dimers for RGS and G(i) coupling

Functional asymmetry of G-protein-coupled receptor (GPCR) dimers has been reported for an increasing number of cases, but the molecular architecture of signalling units associated to these dimers remains unclear. Here, we characterized the molecular complex of the melatonin MT1 receptor, which directly and constitutively couples to G(i) proteins and the regulator of G-protein signalling (RGS) 20. The molecular organization of the ternary MT1/G(i)/RGS20 complex was monitored in its basal and activated state by bioluminescence resonance energy transfer between probes inserted at multiple sites of the complex. On the basis of the reported crystal structures of G(i) and the RGS domain, we propose a model wherein one G(i) and one RGS20 protein bind to separate protomers of MT1 dimers in a pre-associated complex that rearranges upon agonist activation. This model was further validated with MT1/MT2 heterodimers. Collectively, our data extend the concept of asymmetry within GPCR dimers, reinforce the notion of receptor specificity for RGS proteins and highlight the advantage of GPCRs organized as dimers in which each protomer fulfils its specific task by binding to different GPCR-interacting proteins. The EMBO Journal (2010) 29, 3646-3659. doi:10.1038/emboj.2010.236; Published online 21 September 201