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Gaucher disease (GD) is a rare autosomal recessive disorder arising from bi-allelic variants in the GBA1 gene, encoding glucocerebrosidase. Deficiency of this enzyme leads to progressive accumulation of the sphingolipid glucosylsphingosine (lyso-Gb1). The international, multicenter, observational “Lyso-Gb1 as a Long-term Prognostic Biomarker in Gaucher Disease”—LYSO-PROOF study succeeded in enrolling a cohort of 160 treatment-naïve GD patients from diverse geographic regions and evaluated the potential of lyso-Gb1 as a specific biomarker for GD. Using genotypes based on established classifications for clinical presentation, patients were stratified into type 1 GD (n = 114) and further subdivided into mild (n = 66) and severe type 1 GD (n = 48). Due to having previously unreported genotypes, 46 patients could not be classified. Though lyso-Gb1 values at enrollment were widely distributed, they displayed a moderate and statistically highly significant correlation with disease severity measured by the GD-DS3 scoring system in all GD patients (r = 0.602, p < 0.0001). These findings support the utility of lyso-Gb1 as a sensitive biomarker for GD and indicate that it could help to predict the clinical course of patients with undescribed genotypes to improve personalized care in the future.

Research Highlights: novel fast and easily assessable proxies for vulnerability to cavitation of conifer sapwood are proposed that allow reliable estimation at the species level. Background and Objectives: global warming calls for fast and easily applicable methods to measure hydraulic vulnerability in conifers since they are one of the most sensitive plant groups regarding drought stress. Classical methods to determine P12, P50 and P88, i.e., the water potentials resulting in 12, 50 and 88% conductivity loss, respectively, are labour intensive, prone to errors and/or restricted to special facilities. Vulnerability proxies were established based on empirical relationships between hydraulic traits, basic density and sapwood anatomy. Materials and Methods: reference values for hydraulic traits were obtained by means of the air injection method on six conifer species. Datasets for potential P50 proxies comprised relative water loss (RWL), basic density, saturated water content as well as anatomical traits such as double wall thickness, tracheid lumen diameter and wall/lumen ratio. Results: our novel proxy P25W, defined as 25% RWL induced by air injection, was the most reliable estimate for P50 (r = 0.95) and P88 (r = 0.96). Basic wood density (r = −0.92), tangential lumen diameters in earlywood (r = 0.88), wall/lumen ratios measured in the tangential direction (r = −0.86) and the number of radial cell files/mm circumference (CF/mm, r = −0.85) were also strongly related to P50. Moreover, CF/mm was a very good predictor for P12 (r = −0.93). Conclusions: the proxy P25W is regarded a strong phenotyping tool for screening conifer species for vulnerability to cavitation assuming that the relationship between RWL and conductivity loss is robust in conifer sapwood. We also see a high potential for the fast and easily applicable proxy CF/mm as a screening tool for drought sensitivity and for application in dendroecological studies that investigate forest dieback.

Papyri belong to the oldest writing grounds in history. Their conservation is of the highest importance in preserving our cultural heritage, which is best achieved based on an extensive knowledge of the materials’ constituents to choose a tailored conservation approach. Thermogravimetric Analysis (TGA) has been widely employed to quantify cellulose and lignin in papyrus sheets, yielding reported lignin contents of 25% to 40%. In this work, the TGA method conventionally used for papyrus samples was repeated and compared to other lignin determination approaches (Klason-lignin and acetyl bromide-soluble lignin). TGA can lead to a large overestimation of the lignin content of commercial papyrus sheets (~27%) compared to the other methods (~5%). A similar overestimation of the lignin content was found for the pith and rind of the native papyrus plant. We concluded that the TGA method should, therefore, not be used for lignin quantification.

Research Highlights: Pronounced winter embolism and recovery were observed in the Alpine conifer shrub Pinus mugo L. Data indicated that the hydraulic courses and underlying mechanism were similar to timberline trees. Background and Objectives: At high elevation, plants above the snow cover are exposed to frost drought and temperature stress during winter. Previous studies demonstrated winter stress to induce low water potentials (Ψ) and significant xylem embolism (loss of conductivity, or LC) in evergreen conifer trees, and recovery from embolism in late winter. Here, we analyzed xylem hydraulics and related structural and cellular changes in a conifer shrub species. Materials and Methods: The uppermost branches of Pinus mugo shrubs growing at the Alpine timberline were harvested over one year, and the Ψ, water content, LC, proportion of aspirated pits, and carbohydrate contents were analyzed. Results: Minimum Ψ (−1.82 ± 0.04 MPa) and maximum LC (39.9% ± 14.5%) values were observed in mid and late winter, followed by a recovery phase. The proportion of aspirated pits was also highest in winter (64.7% ± 6.9% in earlywood, 27.0% ± 1.4% in latewood), and decreased in parallel with hydraulic recovery in late winter and spring. Glucose and fructose contents gradually decreased over the year, while starch contents (also microscopically visible as starch grains in needle and stem tissues) increased from May to July. Conclusions: The formation and recovery of embolism in Pinus mugo were similar to those of timberline trees, as were the underlying mechanisms, with pit aspiration enabling the isolation of embolized tracheids, and changes in carbohydrate contents indicating adjustments of osmotic driving forces for water re-distribution. The effects of future changes in snow cover regimes may have pronounced and complex effects on shrub-like growth forms, because a reduced snow cover may shorten the duration of frost drought, but expose the plants to increased temperature stress and impair recovery processes.