Mutations in different genes encoding sarcomeric proteins are responsible for 50-60% of familial cases of hypertrophic cardiomyopathy (HCM); however, the genetic alterations causing the disease in ...one-third of patients are currently unknown. Here we describe a case with familial HCM of unknown cause. Whole-exome sequencing reveals a variant in the gene encoding the sarcomeric protein filamin C (p.A1539T) that segregates with the disease in this family. Sequencing of 92 HCM cases identifies seven additional variants segregating with the disease in eight families. Patients with FLNC mutations show marked sarcomeric abnormalities in cardiac muscle, and functional analysis reveals that expression of these FLNC variants resulted in the formation of large filamin C aggregates. Clinical studies indicate that FLNC-mutated patients have higher incidence of sudden cardiac death. On the basis of these findings, we conclude that mutations in the gene encoding the sarcomeric protein filamin C cause a new form of familial HMC.
Tropical forest responses to variation in water availability, which are critical for understanding and predicting the effects of climate change, depend on trait variation among trees.
We quantified ...interspecific and intraspecific variation in 18 branch, leaf and stomatal traits for 19–72 dominant tree species along a local topographic gradient in an aseasonal Amazon terra firme forest, and tested trait relationships with tree size, elevation, and species' topographic associations. We further tested whether correlation and coordination of traits vary among trees, among species and/or among trees within species.
Intraspecific trait variation was substantial and exceeded interspecific variation in 10 of 18 traits. For leaf acquisition traits, intraspecific variation was mainly related to tree topographic elevation, while most of the variation in branch, leaf and stomatal traits was related to tree size. Interspecific variation showed no clear relationships with species' habitat association. Although trait correlations and coordinations were generally maintained among trees and among species, bivariate relationships varied among trees within species, across habitat association classes and across tree size classes.
Our results demonstrate the magnitude and importance of intraspecific trait variation in tropical trees, especially as related to tree size. Furthermore, these results suggest that previous findings relating interspecific variation with topographic association in seasonal forests do not necessarily generalize to aseasonal forests.
Read the free Plain Language Summary for this article on the Journal blog.
Read the free Plain Language Summary for this article on the Journal blog.
Understanding ecohydrological dynamics that result from land-use conversions is fundamental in managing ecosystem services. One common forest transformation in the tropics is the establishment of ...monospecific plantations with exotic species for timber exploitation, replacing highly diverse natural forests. The impacts of establishing forest plantations in hydrological processes and biogeochemical dynamics have been highly controversial, with functions from structurally homogeneous plantations being sometimes assumed to be comparable to natural forests. To assess the effects of planting exotic conifer species versus natural forests on hydrological and biogeochemical functions, we measured incoming precipitation, throughfall, and stemflow. To compare between forest types, we propose the use of basal area for standardization of hydrochemical fluxes. While net precipitation was similar among forest types, the transmission of water to the forest floor per basal area unit was significantly higher in native forests. Yet, nutrient concentrations were similar among them. However, greater nutrient enrichment per unit basal area was observed for the native species. This more efficient nutrient cycling could be related to native forests being better adapted to oligotrophic soils. The re-establishment of native species rather than with exotic species can result in more efficient hydrochemical regulation, improving the capacity of these ecosystems to produce services.
The development of a novel protocol for the fast introduction of the picolinamide directing group in aliphatic ketones by using the ammonia–Ugi 4-CR reaction and the subsequent evaluation of the ...Pd-mediated γ-C(sp3)–H bond activation is described. The methodology allows the efficient construction of a series of γ-arylated α-aminoamides bearing a congested carbon in two steps.
Onychomycosis is the most common nail pathology, involving various pathogens such as dermatophytes, moulds and yeasts.
The objective of this study was to observe the prevalence of onychomycosis, ...analyse the most appropriate diagnostic test, and assess the distribution of pathogens based on age, sex, quarter of the year, duration of symptoms and previous treatment.
Retrospectively, mycological culture and PCR data and results were collected from 121 patients.
Of the 121 samples, 57% (69/121) tested positive when both microbiological study techniques were combined. The prevalence of onychomycosis was higher when PCR was performed (52.1%) compared to microbiological culture (33.1%). Among the 81 samples negative by microbiological culture, 31 were positive by PCR. Similarly, of the 58 samples negative by PCR, eight were positive by microbiological culture. Diagnostic accuracy data (with 95% confidence intervals) for PCR, using microbiological culture as the gold standard, were as follows: sensitivity of 0.8, specificity of 0.62, positive predictive value of 0.51 and negative predictive value of 0.86. The most frequently identified pathogen was Trichophyton rubrum, and the hallux nail plate was the most commonly affected location. However, no statistically significant associations were found between sex, age, quarter of the year and affected area with culture and PCR results.
Combining microbiological culture and PCR can increase the detection rate of onychomycosis and help avoid false-negative results.
The advent of quantum computing threatens blockchain protocols and networks because they utilize non-quantum resistant cryptographic algorithms. When quantum computers become robust enough to run ...Shor's algorithm on a large scale, the most used asymmetric algorithms, utilized for digital signatures and message encryption, such as RSA, (EC)DSA, and (EC)DH, will be no longer secure. Quantum computers will be able to break them within a short period of time. Similarly, Grover's algorithm concedes a quadratic advantage for mining blocks in certain consensus protocols such as proof of work. Today, there are hundreds of billions of dollars denominated in cryptocurrencies and other digital assets that rely on blockchain ledgers as well as thousands of blockchain-based applications storing value in blockchain networks. Cryptocurrencies and blockchain-based applications require solutions that guarantee quantum resistance in order to preserve the integrity of data and assets in these public and immutable ledgers. The quantum threat and some potential solutions are well understood and presented in the literature. However, most proposals are theoretical, require large QKD networks, or propose new quantum-resistant blockchain networks to be built from scratch. Our work, which is presented in this paper, is pioneer in proposing an end-to-end framework for post-quantum blockchain networks that can be applied to existing blockchain to achieve quantum-resistance. We have developed an open-source implementation in an Ethereum-based (i.e., EVM compatible) network that can be extended to other existing blockchains. For the implementation we have (i) used quantum entropy to generate post-quantum key pairs, (ii) established post-quantum TLS connections and X.509 certificates to secure the exchange of information between blockchain nodes over the internet without needing a large QKD network, (iii) introduced a post-quantum second signature in transactions using Falcon-512 post-quantum keys, and (iv) developed the first on-chain verification of post-quantum signatures using three different mechanisms that are compared and analyzed: Solidity smart-contracts run by the validators for each transaction, modified EVM Opcode, and precompiled smart contracts.
Background
Onychomycosis (ONM) is the most prevalent nail unit pathology, and its severity and monitoring are often based on the visual judgement of clinicians.
Objective
The objective of this study ...is to assess the reliability of the Onychomycosis Severity Index (OSI) classification when utilized by three clinicians with varying levels of clinical experience: an experienced podiatrist (with 5 years of experience), a moderately experienced podiatrist (with 2 years of experience) and an inexperienced podiatrist (a recent graduate familiar with the OSI classification but lacking clinical experience). Additionally, we compared the severity assessments made through visual inspection with those determined using the OSI by different clinicians.
Methods
We evaluated reliability using the intraclass correlation index (ICC), analysing 50 images of ONM.
Results
The OSI demonstrated a very high level of reliability (ICC: 0.889) across clinicians, irrespective of their experience levels. Conversely, a statistically significant increase in severity was observed when comparing visual assessments with the OSI (p < .001) for ONM severity evaluation.
Conclusion
The OSI proves to be a reproducible classification system, regardless of the clinical experience of the practitioner employing it.
•Plantations showed higher soil water depletion over the year than abandoned pastures.•Most tree species exhibited higher growth rate when growing in abandoned pastures.•Survival of tree species was ...similar or even higher in pastures than plantations.•Carbon economy and drought resistance traits in combination predicted tree species performance.•RWCtlp, LDMC and ε were the best predictors of growth rate and survival of species growing in plantations.
In the humid tropics, the substitution of forest cover by open pastures generates hotter and dryer conditions limiting the establishment of native plants. In this context reforestation of pastures using fast-growing tree species is commonly used to improve the environmental conditions, however, contrary to expected this strategy may lead to drier soil conditions due to the elevated transpiration rates of large trees, overall generating landscape mosaics with high variation in light and water availability. Despite the high sensitivity of tree species from the humid tropics to drought, efforts to predict species performance in reforestation campaigns have been focused mostly on carbon gain traits, while ignoring the drought resistance traits. In this study we addressed the hypothesis that both carbon gain and drought resistance traits are good predictors of growth rate and survival of species under contrasting vegetation cover types in a managed landscape. To test this hypothesis, the growth and survival over 38 months, and 17 physiological and morphological leaf traits related to carbon economy and drought resistance were measured in ten tree species planted in pastures and tree plantations. Plantations showed higher soil water depletion than pastures and the relative growth rate and survival of species were higher in pastures. Carbon economy and drought resistance traits together predicted interspecific growth rate and survival; however, the importance of functional traits as predictors depended on the cover type. Carbon acquisition traits (Am and AFE) were the best predictors in pastures, while drought resistance traits (RWCtlp, LDMC and ε) had the lowest magnitude of interspecific variation, but were the best predictors in plantations. This suggests that, despite its restricted variation, drought tolerance traits may be of paramount importance in defining tree performance and long-term success of managed species in the humid tropics, particularly under fast-growing tree covertures. This study shows that soil water might act as a limiting factor on plant performance in managed landscapes in the humid tropics, and challenges the common assumption that using a low diversity of fast-growing and highly resource-demanding species is the best strategy to reforest abandoned pastures and improve the environmental conditions for other species.
Mexico's recent energy reform (2013) has provided the foundations for increased private participation in attempts to offset or reverse the country's continued decline in fossil fuel production. This ...country is currently on path to becoming a net energy importer by 2020. Conversely, in 2015, and for the first time in over 20 years, the United States (US) became a net oil exporter to Mexico. One of the strategies being pursued by Mexico to prevent an impending supply–demand energy imbalance is the development of shale resources using horizontal drilling and hydraulic fracturing techniques. Hence, an evaluation of the inherent risks associated with hydraulic fracturing is crucial for Mexico's energy planning and decision-making process. This paper draws lessons from the recent ‘shale boom’ in the US, and it analyzes and summarizes the environmental, social, economic, and community impacts that Mexico should be aware of as its nascent shale industry develops. The analysis seeks to inform mainly Mexican policy makers, but also academics, nongovernmental organizations, and the public in general, about the main concerns regarding hydraulic fracturing activities, and the importance of regulatory enforcement and community engagement in advancing sustainability. We highlight that Mexico should only develop its unconventional resources after careful evaluation of all potential impacts and after the formulation of regulation intended for their mitigation. Furthermore, using the US as a case study, we argue that development of unconventional oil and gas resources in Mexico could lead to a short-term boom rather than to a dependable and sustainable long-term energy supply. Our analysis concludes with a set of recommendations for Mexico, featuring best practices that could be used to attenuate and address some of the impacts likely to emerge from shale oil and gas development.
Based on the framework of the self-determination theory, the present study aimed to test a predictive model in the Ecuadorian sports context by using autonomy support as a trigger, which was mediated ...by basic psychological needs and later by autonomous motivation. This procedure was used to predict the intention to be physically active and was carried out on 280 athletes from the province of Azuay (Ecuador) aged between 12 and 20 years (
= 15.28; SD = 1.71). Different scales were used to measure the perception of the interpersonal style of autonomy supported by the coach. The scales employed included the degree of satisfaction of basic psychological needs, motivation to practice sports, and intention to be physically active. A structural equation analysis revealed that perceived autonomy support positively predicted basic psychological needs, which in turn positively predicted autonomous motivation and, as a result, the athletes' intentions to be physically active. It was concluded that coaches' support for the interpersonal style of autonomy can benefit the development of basic psychological needs as well as autonomous motivation, which in turn can increase young athletes' intentions to be physically active. Future research is also recommended to verify this predictive model and to encourage further experimental studies in which coaches promote autonomy support for athletes intending to increase their adherence to practising sports.
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