Determinants of penetrance and variable expressivity in monogenic metabolic conditions across 77,184 exomes

Penetrance of variants in monogenic disease and clinical utility of common polygenic variation has not been well explored on a large-scale. Here, the authors use exome sequencing data from 77,184 individuals to generate penetrance estimates and assess the utility of polygenic variation in risk prediction of monogenic variants

Expert opinion about laser and intense pulsed light (IPL)-induced leukoderma or vitiligo: a cross-sectional survey study

Vitiligo patients may desire laser hair removal, skin rejuvenation, vascular treatments, and other laser or intense pulsed light (IPL) assisted treatments. However, there is a risk of inducing new depigmented patches (Koebner phenomenon). In absence of guidelines on the safe use of laser or IPL in vitiligo patients, dermatologists tend to be reluctant to administer these treatments. The aim of this survey study was to provide an estimation of the occurrence and related risk factors of laser/IPL-induced leukoderma or vitiligo. A cross-sectional survey study was performed among 15 vitiligo experts from 11 countries, with 14 questions about affected patients, involved laser/IPL treatments and the physicians’ approach. In a total of 11,300 vitiligo patients, laser/IPL-induced leukoderma or vitiligo was reported in 30 patients (0.27%). Of these, 12 (40%) patients had a medical history of vitiligo and seven (58%) of these patients had stable (> 12 months) vitiligo before the treatment. Most frequently reported were hair removal procedures and localization of the face and legs. Side effects like blistering, crusting, and erosions occurred in 56.7% of the cases. These vitiligo experts based their advice on the risk of the laser treatment on stability of the vitiligo (43%) and activity signs (50%), and 50% discuss the risks before starting a laser treatment. Relevant activity signs are the Koebner phenomenon (57.1%), confetti-like lesions (57.1%) and hypochromic borders (50%). Laser-induced leukoderma or vitiligo is an uncommon phenomenon. Remarkably, a minority had a medical history of vitiligo of which 58% were stable. Consequently, most cases could not have been prevented by not treating vitiligo patients. However, a majority had laser/IPL-induced skin damage. Therefore, caution is advised with aggressive settings and test-spots prior to the treatment are recommended. This study showed significant variation in the current recommendations and approach of vitiligo experts regarding laser/IPL-induced leukoderma or vitiligo

Ecology under lake ice

Winter conditions are rapidly changing in temperate ecosystems, particularly for those that experi-ence periods of snow and ice cover. Relatively little is known of winter ecology in these systems,due to a historical research focus on summer ‘growing seasons’. We executed the first global quan-titative synthesis on under-ice lake ecology, including 36 abiotic and biotic variables from 42research groups and 101 lakes, examining seasonal differences and connections as well as how sea-sonal differences vary with geophysical factors. Plankton were more abundant under ice thanexpected; mean winter values were 43.2% of summer values for chlorophyll a, 15.8% of summerphytoplankton biovolume and 25.3% of summer zooplankton density. Dissolved nitrogen concen-trations were typically higher during winter, and these differences were exaggerated in smallerlakes. Lake size also influenced winter-summer patterns for dissolved organic carbon (DOC), withhigher winter DOC in smaller lakes. At coarse levels of taxonomic aggregation, phytoplanktonand zooplankton community composition showed few systematic differences between seasons,although literature suggests that seasonal differences are frequently lake-specific, species-specific,or occur at the level of functional group. Within the subset of lakes that had longer time series,winter influenced the subsequent summer for some nutrient variables and zooplankton biomas