Macropore flow in relation to the geometry and topology of soil macropore networks: Re-visiting the kinematic wave equation

The rapid flow of water through soil macropores significantly affects the partitioning of precipitation between surface runoff and infiltration and also the rate of solute transport in soil, both of which have an impact on the risk of contamination of surface water and groundwater. The kinematic wave equation is often employed as a model of gravity-driven water flow through soil macropores. The exponent in this simple model influences the pore water velocity attained in the macropores at any given input rate and is usually estimated by inverse modelling against measured flow rates or water contents. In theory, the exponent in the kinematic wave equation should depend on the geometry and topology of the conducting macropore networks, although these relationships have not so far been investigated. In this study, we related metrics of soil structure derived from X-ray images to values of the kinematic exponent estimated from drainage experiments on twenty-two columns sampled at three different field sites under two contrasting land uses and at three different depths. We found that smaller values of the exponent in the kinematic wave equation, which would equate to more rapid flow of water through soil macropores, were found in plough pan and subsoil columns of smaller macroporosity, for which biopores comprised a significant fraction. The macroporosity in these columns was more vertically oriented and poorly inter-connected, though still continuous across the sample. In contrast, topsoil columns from both arable land and grassland had better connected, denser and more isotropically-distributed macropore networks and larger values of the kinematic exponent. Our results suggest that for predictive modelling at large scales, it may be feasible to estimate the kinematic exponent using class pedotransfer functions based on pedological information such as land use and horizon type

Extreme phenotypic heterogeneity in non-expansion spinocerebellar ataxias

Although the best-known spinocerebellar ataxias (SCAs) are triplet repeat diseases, many SCAs are not caused by repeat expansions. The rarity of individual non-expansion SCAs, however, has made it difficult to discern genotype-phenotype correlations. We therefore screened individuals who had been found to bear variants in a non-expansion SCA-associated gene through genetic testing, and after we eliminated genetic groups that had fewer than 30 subjects, there were 756 subjects bearing single-nucleotide variants or deletions in one of seven genes: CACNA1A (239 subjects), PRKCG (175), AFG3L2 (101), ITPR1 (91), STUB1 (77), SPTBN2 (39), or KCNC3 (34). We compared age at onset, disease features, and progression by gene and variant. There were no features that reliably distinguished one of these SCAs from another, and several genes-CACNA1A , ITPR1 , SPTBN2 , and KCNC3-were associated with both adult-onset and infantile-onset forms of disease, which also differed in presentation. Nevertheless, progression was overall very slow, and STUB1- associated disease was the fastest. Several variants in CACNA1A showed particularly wide ranges in age at onset: one variant produced anything from infantile developmental delay to ataxia onset at 64 years of age within the same family. For CACNA1A , ITPR1 , and SPTBN2 , the type of variant and charge change on the protein greatly affected the phenotype, defying pathogenicity prediction algorithms. Even with next-generation sequencing, accurate diagnosis requires dialogue between the clinician and the geneticist