How long is a hillslope?

Hillslope length is a fundamental attribute of landscapes, intrinsically linked to drainage density, landslide hazard, biogeochemical cycling and hillslope sediment transport. Existing methods to estimate catchment average hillslope lengths include inversion of drainage density or identification of a break in slope–area scaling, where the hillslope domain transitions into the fluvial domain. Here we implement a technique which models flow from point sources on hilltops across pixels in a digital elevation model (DEM), based on flow directions calculated using pixel aspect, until reaching the channel network, defined using recently developed channel extraction algorithms. Through comparisons between these measurement techniques, we show that estimating hillslope length from plots of topographic slope versus drainage area, or by inverting measures of drainage density, systematically underestimates hillslope length. In addition, hillslope lengths estimated by slope–area scaling breaks show large variations between catchments of similar morphology and area. We then use hillslope length–relief structure of landscapes to explore nature of sediment flux operating on a landscape. Distinct topographic forms are predicted for end-member sediment flux laws which constrain sediment transport on hillslopes as being linearly or nonlinearly dependent on hillslope gradient. Because our method extracts hillslope profiles originating from every ridgetop pixel in a DEM, we show that the resulting population of hillslope length–relief measurements can be used to differentiate between linear and nonlinear sediment transport laws in soil mantled landscapes. We find that across a broad range of sites across the continental United States, topography is consistent with a sediment flux law in which transport is nonlinearly proportional to topographic gradient

Global projection of lead-zinc supply from known resources

© 2018 by the authors. Lead and zinc are used extensively in the construction and automotive industries, and require sustainable supply. In order to understand the future availability of lead and zinc, we have projected global supplies on a country-by-country basis from a detailed global assessment of mineral resources for 2013. The model GeRS-DeMo was used to create projections of lead and zinc production from ores, as well as recycling for lead. Our modelling suggests that lead and zinc production from known resources is set to peak within 15 years (lead 2025, zinc 2031). For lead, the total supply declines relatively slowly post peak due to recycling. If additional resources are found, these peaks would shift further into the future. These results suggest that lead and zinc consumers will need to plan for the future, potentially by: seeking alternative supplies (e.g., mine tailings, smelter/refinery slags); obtaining additional value from critical metals contained in lead-zinc ore deposits to counter lower grade ores; identifying potential substitutes; redesigning their products; or by contributing to the development of recycling industries

Hypermethioninaemia due to methionine adenosyltransferase I/III (MAT I/III) deficiency: diagnosis in an expanded neonatal screening programme

The Expanded Newborn Screening Program (MS/MS) in the region of Galicia (NW Spain) was initiated in 2000 and includes the measurement of methionine levels in dried blood spots. Between June 2000 and June 2007, 140 818 newborns were analysed, and six cases of persistent hypermethioninaemia were detected: one homocystinuria due to cystathionine β-synthase (CβS) deficiency, and five methionine adenosyltransferase I/III (MAT I/III) deficiencies. The five cases of MAT I/III deficiency represent an incidence of 1/28 163 newborns. In these five patients, methionine levels in dried blood spots ranged from 50 to 147 μmol/L. At confirmation of the persistence of the hypermethioninaemia in a subsequent plasma sample, plasma methionine concentrations were moderately elevated in 4 of the 5 patients (mean 256 μmol/L), while total homocysteine (tHcy) was normal; the remaining patient showed plasma methionine of 573 μmol/L and tHcy of 22.8 μmol/L. All five patients were heterozygous for the same dominant mutation, R264H in the MAT1A gene. With a diet not exceeding recommended protein requirements for their age, all patients maintained methionine levels below 300 μmol/L. Currently, with a mean of 2.5 years since diagnosis, the patients are asymptomatic and show developmental quotients within the normal range. Our results show a rather high frequency of hypermethioninaemia due to MAT I/III deficiency in the Galician neonatal population, indicating a need for further studies to evaluate the impact of persistent isolated hypermethioninaemia in neonatal screening programmes

Birth Cohort Differences in Features of Antisocial Alcoholism among Men and Women

Background: This study examines the relations between birth cohort, gender, and family history of alcohol problems on alcohol dependence, and on the endorsement of alcohol abuse/dependence symptoms related to antisocial behavior. Methods: Men (n = 1365) and women (n = 625) were recruited from the community, hospitals, and other treatment sites and were given a structured diagnostic interview. Data were analyzed by using logistic regression. Results: Age of first regular alcohol use was lower in more recent birth cohorts for both men and women, with those born in the most recent cohort reporting earliest regular use. The decline across cohort was more dramatic in women than in men. For those participants with a diagnosis of alcohol dependence, being born in a more recent cohort was associated with increased risk of dependence onset before age 25. Among those participants with onset of alcohol dependence before age 25 (nmen = 400; nwomen = 51), being born in a more recent cohort was associated with increased risk of fights while drinking, police involvement, and drunk driving trouble as well as with increased risk for a diagnosis of abuse or dependence on another drug. Conclusions: These results suggest that the prevalence of antisocial alcoholism may be increasing for both men and women. These data exemplify how societal change may affect expression of underlying vulnerability for traits thought to be genetically influenced

Newborn Screening for Homocystinuria Revealed a High Frequency of MAT I/III Deficiency in Iberian Peninsula

Acessível em: http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4375120/Homocystinuria due to cystathionine β-synthase deficiency or "classical homocystinuria" is a rare autosomal recessive condition resulting in altered sulfur metabolism with elevated methionine and homocysteine in plasma and homocystine in urine. This condition is characterized by a high clinical heterogeneity, which contributes to late clinical diagnosis, usually only made after irreversible damage has occurred. Treatment is effective if started before clinical symptoms. The analysis of methionine levels by tandem mass spectrometry (MS/MS) allows the newborn screening for homocystinuria, but false-positive results can be frequently obtained and lead to the unwanted identification of methionine adenosyl transferase (MAT I/III) deficiency. This latter condition is biochemically characterized by isolated persistent hypermethioninemia, accompanied in some individuals with slightly elevated levels of homocysteine in plasma. A dominant form of MAT I/III deficiency, associated with mutation p.R264H, seems to be very frequent in the Iberian Peninsula and usually has a clinically benign course. Both these metabolic disorders are screened in Galicia and Portugal since the introduction of the MS/MS technology, in 2000 and 2004, respectively, resulting in the identification of three patients with classical homocystinuria and 44 patients with MAT I/III deficiency. All but one heterozygous parent of MAT I/III patients, identified with the p.R264H mutation, are healthy adults around the age of 30/40. The implementation of a second-tier test for homocysteine in dried blood spots would considerably reduce the number of MAT I/III-deficient patients identified and improve the specificity and positive predictive value for classical homocystinuria screening

Topographic roughness as a signature of the emergence of bedrock in eroding landscapes

Rock is exposed at the Earth surface when rates of erosion locally exceed rates of soil production. The thinning of soils and emergence of bedrock has implications spanning geomorphology, ecology and hydrology. Soil-mantled hillslopes are typically shaped by diffusion-like sediment transport processes that act to smooth topography through time, generating the familiar smooth, convex hillslope profiles that are common in low relief landscapes. Other processes, however, can roughen the landscape. Bedrock emergence can produce rough terrain; in this contribution we exploit the contrast between rough patches of bedrock outcrop and smooth, diffusion-dominated soil to detect bedrock outcrops. Specifically, we demonstrate that the local variability of surface normal vectors, measured from 1 m resolution airborne LiDAR data, can be used as a topographic signature to identify areas within landscapes where rock exposure is present. We then use this roughness metric to investigate the transition from soil-mantled to bedrock hillslopes as erosion rates increase in two transient landscapes, Bald Rock Basin, which drains into the Middle Fork Feather River, California, and Harrington Creek, a tributary of the Salmon River, Idaho. Rather than being abrupt, as predicted by traditional soil production models, in both cases the transition from fully soil-mantled to bedrock hillslopes is gradual and spatially heterogeneous, with rapidly eroding hillslopes supporting a patchwork of bedrock and soil that is well documented by changes in topographic roughness, highlighting the utility of this metric for testing hypotheses concerning the emergence of bedrock and adding to a growing body of evidence that indicates the persistence of partial soil mantles in steep, rapidly eroding landscapes

Environmental influences on familial discordance of phenotype in people with homocystinuria: a case report

<p>Abstract</p> <p>Introduction</p> <p>Non-heritable factors may have an influence on the clinical expression of monogenic inherited metabolic diseases.</p> <p>Case presentation</p> <p>This is a case report of a man whose mother had been diagnosed late in childhood with pyridoxine responsive homocystinuria with lens dislocation and neurodevelopmental delay. These severe complications were not observed in her son who was pyridoxine unresponsive but who had been treated appropriately since early infancy.</p> <p>Conclusion</p> <p>The phenotype of people with homocystinuria can be discordant within a family, with variability in metabolic and clinical expression depending upon both the genotype and therapeutic interventions. Offspring of people with homocystinuria should be screened in early infancy and, if positive, treated appropriately whether they have pyridoxine responsive or unresponsive disease.</p

Downstream rounding rate of pebbles in the Himalaya

Sediment grains are progressively rounded during their transport down a river. For more than a century, Earth scientists have used the roundness of pebbles within modern sediment, and of clasts within conglomerates, as a key metric to constrain the sediment's transport history and source area(s). However, the current practices of assessment of pebble roundness are mainly qualitative and based on time-consuming manual measurement methods. This qualitative judgement provides the transport history only in a broad sense, such as classifying distance as “near” or “far”. In this study, we propose a new model that quantifies the relationship between roundness and the transport distance. We demonstrate that this model can be applied to the clasts of multiple lithologies including modern sediment, as well as conglomerates, deposited by ancient river systems. We present field data from two Himalayan catchments in Nepal. We use the normalized isoperimetric ratio (IRn), which relates a pebble's area (A) to its perimeter (P), to quantify roundness. The maximum analytical value for IRn is 1, and IRn is expected to increase with transport distance. We propose a non-linear roundness model based on our field data, whereby the difference between a grain's IRn and the maximum value of 1 decays exponentially with transport distance, mirroring Sternberg's model of mass loss or size reduction by abrasion. This roundness model predicts an asymptotic behaviour for IRn, and the distance over which IRn approaches the asymptote is controlled by a rounding coefficient. Our field data suggest that the roundness coefficient for granite pebbles is 9 times that of quartzite pebbles. Using this model, we reconstruct the transport history of a Pliocene paleo-river deposit preserved at the base of the Kathmandu intermontane basin. These results, along with other sedimentary evidence, imply that the paleo-river was much longer than the length of the Kathmandu Basin and that it must have lost its headwaters through drainage capture. We further explore the extreme rounding of clasts from Miocene conglomerate of the Siwalik zone and find evidence of sediment recycling.</p