Hierarchical Data-Driven Analysis of Clinical Symptoms Among Patients With Parkinson's Disease

Mutations in the LRRK2 and GBA genes are the most common inherited causes of Parkinson's disease (PD). Studies exploring phenotypic differences based on genetic status used hypothesis-driven data-gathering and statistical-analyses focusing on specific symptoms, which may influence the validity of the results. We aimed to explore phenotypic expression in idiopathic PD (iPD) patients, G2019S-LRRK2-PD, and GBA-PD using a data-driven approach, allowing screening of large numbers of features while controlling selection bias. Data was collected from 1525 Ashkenazi Jews diagnosed with PD from the Tel-Aviv Medical center; 161 G2019S-LRRK2-PD, 222 GBA-PD, and 1142 iPD (no G2019S-LRRK2 or any of the 7 AJ GBA mutations tested). Data included 771 measures: demographics, cognitive, physical and neurological functions, performance-based measures, and non-motor symptoms. The association of the genotypes with each of the measures was tested while accounting for age at motor symptoms onset, gender, and disease duration; p-values were reported and corrected in a hierarchical approach for an average over the selected measures false discovery rate control, resulting in 32 measures. GBA-PD presented with more severe symptoms expression while LRRK2-PD had more benign symptoms compared to iPD. GBA-PD presented greater cognitive and autonomic involvement, more frequent hyposmia and REM sleep behavior symptoms while these were less frequent among LRRK2-PD compared to iPD. Using a data-driven analytical approach strengthens earlier studies and extends them to portray a possible unique disease phenotype based on genotype among AJ PD. Such findings could help direct a more personalized therapeutic approach

Cathodoluminescence of iron oxides and oxyhydroxides

Iron oxides and oxyhydroxides show promise as superconductor materials and as repositories of paleo-environmental information. However, there are no microscale non-destructive analytical techniques to characterize their combined mineralogy, chemical composition, and crystal properties. We address this by developing cathodoluminescence mounted on a scanning electron microscope (SEM-CL) as an in situ, non-destructive method for the crystallographic and petrographic study of iron oxides and oxyhydroxides. We show that goethite, hematite, and magnetite display different SEM-CL spectra, which may be used for mineral identification. We further show that different formation pH, manganese substitution for iron in goethite and hematite, and titanium substitution for iron in magnetite cause shifts in the SEM-CL spectra of these minerals. These spectral shifts are not always detectable as a change in the emission color but are easily discernable by quantitative analysis of the spectra. Together with subtle but observable variations in the SEM-CL spectra of natural goethite and hematite, we suggest that these dependences of the SEM-CL spectra on pH and chemical composition may be used as a means of identifying multiple episodes of mineralization and recrystallization. We apply the newly developed SEM-CL methods to two polished sections of natural samples and show that quantitative analysis of the spectra obtained allows the identification of differences between varieties of the same mineral that are not observable by other means. Like the application of SEM-CL to geologic samples in this study, we suggest that this approach may be used to explore the in situ chemistry and crystallinity of various natural and manufactured iron oxides and oxyhydroxides.ISSN:0003-004XISSN:1945-302

Global warming accelerates soil heterotrophic respiration

Carbon efflux from soils is the largest terrestrial carbon source to the atmosphere, yet it is still one of the most uncertain fluxes in the Earth’s carbon budget. A dominant component of this flux is heterotrophic respiration, influenced by several environmental factors, most notably soil temperature and moisture. Here, we develop a mechanistic model from micro to global scale to explore how changes in soil water content and temperature affect soil heterotrophic respiration. Simulations, laboratory measurements, and field observations validate the new approach. Estimates from the model show that heterotrophic respiration has been increasing since the 1980s at a rate of about 2% per decade globally. Using future projections of surface temperature and soil moisture, the model predicts a global increase of about 40% in heterotrophic respiration by the end of the century under the worst-case emission scenario, where the Arctic region is expected to experience a more than two-fold increase, driven primarily by declining soil moisture rather than temperature increase.ISSN:2041-172

Global warming accelerates soil heterotrophic respiration

Abstract Carbon efflux from soils is the largest terrestrial carbon source to the atmosphere, yet it is still one of the most uncertain fluxes in the Earth’s carbon budget. A dominant component of this flux is heterotrophic respiration, influenced by several environmental factors, most notably soil temperature and moisture. Here, we develop a mechanistic model from micro to global scale to explore how changes in soil water content and temperature affect soil heterotrophic respiration. Simulations, laboratory measurements, and field observations validate the new approach. Estimates from the model show that heterotrophic respiration has been increasing since the 1980s at a rate of about 2% per decade globally. Using future projections of surface temperature and soil moisture, the model predicts a global increase of about 40% in heterotrophic respiration by the end of the century under the worst-case emission scenario, where the Arctic region is expected to experience a more than two-fold increase, driven primarily by declining soil moisture rather than temperature increase

Nuclear spin effects in biological processes

Traditionally, nuclear spin is not considered to affect biological processes. Recently, this has changed as isotopic fractionation that deviates from classical mass dependence was reported both in vitro and in vivo. In these cases, the isotopic effect correlates with the nuclear magnetic spin. Here, we show nuclear spin effects using stable oxygen isotopes (16O, 17O, and 18O) in two separate setups: an artificial dioxygen production system and biological aquaporin channels in cells. We observe that oxygen dynamics in chiral environments (in particular its transport) depend on nuclear spin, suggesting future applications for controlled isotope separation to be used, for instance, in NMR. To demonstrate the mechanism behind our findings, we formulate theoretical models based on a nuclear-spin-enhanced switch between electronic spin states. Accounting for the role of nuclear spin in biology can provide insights into the role of quantum effects in living systems and help inspire the development of future biotechnology solutions