80 research outputs found

    Linking hydrological connectivity to gully erosion in savanna rangelands tributary to the Great Barrier Reef using structure‐from‐motion photogrammetry

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    Gully erosion is a major land management challenge globally and a particularly important issue in dry tropical savanna rangelands tributary to the Great Barrier Reef, Australia. This study investigated linkages between hillslope hydrological connectivity pathways and gully geomorphic change in the Burdekin River Basin. High‐resolution (0.1 m) topographic and land cover data derived from low‐cost aerial (via unmanned aircraft system) structure‐from‐motion with multiview stereo photogrammetry (SfM) were used to map fine‐scale connectivity patterns and quantify headcut retreat at the hillslope scale (~150,000 m2). Very high resolution (0.01 m) topographic models derived from ground‐based (via handheld digital camera) SfM were used to quantify the morphology and geomorphic change of several gully arms (300–700 m2) between 2016 and 2018. Median linear, areal, and volumetric headcut (n = 21) retreat rates were 0.2 m, 0.8 m2, and 0.3 m3 yr−1, respectively. At all study sites, the points where modelled hydrological flow lines intersected gullies corresponded to observed geomorphic change, enabling spatially explicit identification of gully extension pathways as a result of overland flow. Application of an index of connectivity demarcated parts of the hillslope most connected to the gully network. Bare areas, roads, and cattle trails were identified as important runoff source areas and hydrological conduits driving gully extension. Ground‐based SfM accurately reconstructed complex morphologic features including undercuts, overhangs, rills, and flutes, providing insights into within‐channel erosion processes. This study contributes to an improved understanding and modelling of hydrogeomorphic drivers of gully erosion in degraded savanna rangelands, ultimately benefiting gully management

    Twenty-three unsolved problems in hydrology (UPH) – a community perspective

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    This paper is the outcome of a community initiative to identify major unsolved scientific problems in hydrology motivated by a need for stronger harmonisation of research efforts. The procedure involved a public consultation through on-line media, followed by two workshops through which a large number of potential science questions were collated, prioritised, and synthesised. In spite of the diversity of the participants (230 scientists in total), the process revealed much about community priorities and the state of our science: a preference for continuity in research questions rather than radical departures or redirections from past and current work. Questions remain focussed on process-based understanding of hydrological variability and causality at all space and time scales. Increased attention to environmental change drives a new emphasis on understanding how change propagates across interfaces within the hydrological system and across disciplinary boundaries. In particular, the expansion of the human footprint raises a new set of questions related to human interactions with nature and water cycle feedbacks in the context of complex water management problems. We hope that this reflection and synthesis of the 23 unsolved problems in hydrology will help guide research efforts for some years to come

    Association of Variants in the SPTLC1 Gene With Juvenile Amyotrophic Lateral Sclerosis

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    Importance: Juvenile amyotrophic lateral sclerosis (ALS) is a rare form of ALS characterized by age of symptom onset less than 25 years and a variable presentation.Objective: To identify the genetic variants associated with juvenile ALS.Design, Setting, and Participants: In this multicenter family-based genetic study, trio whole-exome sequencing was performed to identify the disease-associated gene in a case series of unrelated patients diagnosed with juvenile ALS and severe growth retardation. The patients and their family members were enrolled at academic hospitals and a government research facility between March 1, 2016, and March 13, 2020, and were observed until October 1, 2020. Whole-exome sequencing was also performed in a series of patients with juvenile ALS. A total of 66 patients with juvenile ALS and 6258 adult patients with ALS participated in the study. Patients were selected for the study based on their diagnosis, and all eligible participants were enrolled in the study. None of the participants had a family history of neurological disorders, suggesting de novo variants as the underlying genetic mechanism.Main Outcomes and Measures: De novo variants present only in the index case and not in unaffected family members.Results: Trio whole-exome sequencing was performed in 3 patients diagnosed with juvenile ALS and their parents. An additional 63 patients with juvenile ALS and 6258 adult patients with ALS were subsequently screened for variants in the SPTLC1 gene. De novo variants in SPTLC1 (p.Ala20Ser in 2 patients and p.Ser331Tyr in 1 patient) were identified in 3 unrelated patients diagnosed with juvenile ALS and failure to thrive. A fourth variant (p.Leu39del) was identified in a patient with juvenile ALS where parental DNA was unavailable. Variants in this gene have been previously shown to be associated with autosomal-dominant hereditary sensory autonomic neuropathy, type 1A, by disrupting an essential enzyme complex in the sphingolipid synthesis pathway.Conclusions and Relevance: These data broaden the phenotype associated with SPTLC1 and suggest that patients presenting with juvenile ALS should be screened for variants in this gene.</p

    Genome-wide Analyses Identify KIF5A as a Novel ALS Gene

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    To identify novel genes associated with ALS, we undertook two lines of investigation. We carried out a genome-wide association study comparing 20,806 ALS cases and 59,804 controls. Independently, we performed a rare variant burden analysis comparing 1,138 index familial ALS cases and 19,494 controls. Through both approaches, we identified kinesin family member 5A (KIF5A) as a novel gene associated with ALS. Interestingly, mutations predominantly in the N-terminal motor domain of KIF5A are causative for two neurodegenerative diseases: hereditary spastic paraplegia (SPG10) and Charcot-Marie-Tooth type 2 (CMT2). In contrast, ALS-associated mutations are primarily located at the C-terminal cargo-binding tail domain and patients harboring loss-of-function mutations displayed an extended survival relative to typical ALS cases. Taken together, these results broaden the phenotype spectrum resulting from mutations in KIF5A and strengthen the role of cytoskeletal defects in the pathogenesis of ALS.Peer reviewe
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