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Background: Biallelic variants in POLR1C are associated with POLR3-related leukodystrophy (POLR3-HLD), or 4H leukodystrophy (Hypomyelination, Hypodontia, Hypogonadotropic Hypogonadism), and Treacher Collins syndrome (TCS). The clinical spectrum of POLR3-HLD caused by variants in this gene has not been described. Methods: A cross-sectional observational study involving 25 centers worldwide was conducted between 2016 and 2018. The clinical, radiologic and molecular features of 23 unreported and previously reported cases of POLR3-HLD caused by POLR1C variants were reviewed. Results: Most participants presented between birth and age 6 years with motor difficulties. Neurological deterioration was seen during childhood, suggesting a more severe phenotype than previously described. The dental, ocular and endocrine features often seen in POLR3-HLD were not invariably present. Five patients (22%) had a combination of hypomyelinating leukodystrophy and abnormal craniofacial development, including one individual with clear TCS features. Several cases did not exhibit all the typical radiologic characteristics of POLR3-HLD. A total of 29 different pathogenic variants in POLR1C were identified, including 13 new disease-causing variants. Conclusions: Based on the largest cohort of patients to date, these results suggest novel characteristics of POLR1C-related disorder, with a spectrum of clinical involvement characterized by hypomyelinating leukodystrophy with or without abnormal craniofacial development reminiscent of TCS.
Transition metal perovskite chalcogenides, a class of materials with rich tunability in functionalities, are gaining increased attention as candidate materials for renewable energy applications. Perovskite oxides are considered excellent n-type thermoelectric materials. Compared to oxide counterparts, we expect the chalcogenides to possess more favorable thermoelectric properties such as lower lattice thermal conductivity and smaller band gap, making them promising material candidates for high temperature thermoelectrics. Thus, it is necessary to study the thermal properties of these materials in detail, especially thermal stability, to evaluate their potential. In this work, we report the synthesis and thermal stability study of five compounds, α-SrZrS3, β-SrZrS3, BaZrS3, Ba2ZrS4, and Ba3Zr2S7. These materials cover several structural types including distorted perovskite, needle-like, and Ruddlesden–Popper phases. Differential scanning calorimeter and thermogravimetric analysis measurements were performed up to 1200 °C in air. Structural and chemical characterizations such as X-ray diffraction, Raman spectroscopy, and energy dispersive analytical X-ray spectroscopy were performed on all the samples before and after the heat treatment to understand the oxidation process. Our studies show that perovskite chalcogenides possess excellent thermal stability in air at least up to 550 °C.
Cryo-electron microscopy (cryo-EM) is a powerful tool for macromolecular to near-atomic resolution structure determination in the biological sciences. The specimen is maintained in a near-native environment within a thin film of vitreous ice and imaged in a transmission electron microscope. The images can then be processed by a number of computational methods to produce three-dimensional information. Recent advances in sample preparation, imaging, and data processing have led to tremendous growth in the field of cryo-EM by providing higher resolution structures and the ability to investigate macromolecules within the context of the cell. Here, we review developments in sample preparation methods and substrates, detectors, phase plates, and cryo-correlative light and electron microscopy that have contributed to this expansion. We also have included specific biological applications.
Roughly 30 years ago researchers in the second language acquisition (SLA) field started to take a focused interest in the study of inner speech (IS) and private speech (PS) processes in second language (L2) learning and use. The purpose of this review is to assess the status of current research and the progress made during the last ten years on the development and experience of covertly using a language other than the first. The review begins with a critical discussion of the challenges involved in defining and conceptualizing IS and PS. To conduct the search of relevant sources, a broad understanding of IS as ‘silent speech for oneself’ and PS as ‘externalized speech for oneself’ was adopted. After a brief synopsis of past research on L2 IS and PS, recent (2005–2015) work is discussed both from a generic-language stance and an L2, bilingual, and multilingual perspective. The review then takes a critical look at the difficult methodological issue of data collection on IS and PS, highlighting strengths and limitations in recent research. Pedagogical implications derived from the research reviewed and suggestions for future studies are discussed.
The total solar eclipse of July 11, 1991 was observed from “La Matanza”, Baja California Sur, México, only 5 km south of the center line of totality, with several small instruments intended to obtain images of the corona during totality, and using a range of exposure times which allowed us to detect both the inner and outer corona. Relations between large and fine scale structures of the corona, the photospheric and chromospheric activity, and the presence of coronal holes are presented.
A pilot study by 6 Clinical and Translational Science Awards (CTSAs) explored how bibliometrics can be used to assess research influence.
Evaluators from 6 institutions shared data on publications (4202 total) they supported, and conducted a combined analysis with state-of-the-art tools. This paper presents selected results based on the tools from 2 widely used vendors for bibliometrics: Thomson Reuters and Elsevier.
Both vendors located a high percentage of publications within their proprietary databases (>90%) and provided similar but not equivalent bibliometrics for estimating productivity (number of publications) and influence (citation rates, percentage of papers in the top 10% of citations, observed citations relative to expected citations). A recently available bibliometric from the National Institutes of Health Office of Portfolio Analysis, examined after the initial analysis, showed tremendous potential for use in the CTSA context.
Despite challenges in making cross-CTSA comparisons, bibliometrics can enhance our understanding of the value of CTSA-supported clinical and translational research.
Magnetic instability is a key consideration for filament eruptions and subsequent CMEs. In this contribution we are considering different magnetic conditions for active and non-active regions, such as coronal hole regions and quiet sun, and also active regions of a simple magnetic configuration. The aim is to assess magnetic instability through potential and non-potential field modelling and 3D evaluation of the magnetic decay index. Some eruptive examples from solar cycle 24 using HMI/SDO data are presented, complemented with observations of AIA/SDO.
We have investigated the case of a coronal mass ejection that was eroded by the fast wind of a coronal hole in the interplanetary medium. When a solar ejection takes place close to a coronal hole, the flux rope magnetic topology of the coronal mass ejection (CME) may become misshapen at 1 AU as a result of the interaction. Detailed analysis of this event reveals erosion of the interplanetary coronal mass ejection (ICME) magnetic field. In this communication, we study the photospheric magnetic roots of the coronal hole and the coronal mass ejection area with HMI/SDO magnetograms to define their magnetic characteristics.
Cottonseed hulls are co-product of agribusiness that can be used in beef cattle rations, decreasing the cost of feed. The aim of this study was to evaluate the effects of different cottonseed hull levels, display and ageing times on visual and sensorial meat acceptability. Longissimus thoracis muscle from 30 crossbred young bulls finished on three high-grain diets (210, 270 or 330 g/kg of cottonseed hulls on dry matter, respectively) were visually evaluated during 10 days of display by 37 appraisers. Tenderness, flavour and overall acceptability from the three diets and three ageing times (1, 7 and 14 days) were evaluated by 120 consumers. On the visual study, time of display (P⩽0.001) was a more significant factor than diet. Cottonseed hull level had no effect on sensorial analyses, with tenderness acceptability improving with ageing time (P⩽0.001). Results indicate the possibility of using the three studied levels of cottonseed without damaging consumer meat acceptability.
Butterflies and moths are subject to different evolutionary pressures that affect several aspects of their behaviour and physiology, particularly sexual communication. Butterflies are day-flying insects (excluding hedylids) whose partner-finding strategy is mainly based on visual cues and female butterflies having apparently lost the typical sex pheromone glands. Moths, in contrast, are mostly night-flyers and use female-released long-range pheromones for partner-finding. However, some moth families are exclusively day-flyers, and therefore subject to evolutionary pressures similar to those endured by butterflies. Among them, the Castniidae, also called ‘butterfly-moths’ or ‘sun-moths’, behave like butterflies and, thus, castniid females appear to have also lost their pheromone glands, an unparallel attribute in the world of moths. In this paper, we review the sexual communication strategy in day-flying Lepidoptera, mainly butterflies (superfamily Papilionoidea), Zygaenidae and Castniidae moths, and compare their mating behaviour with that of moth families of nocturnal habits, paying particular attention to the recently discovered butterfly-like partner-finding strategy of castniids and the fascinating facts and debates that led to its discovery.
I deficiency is still a worldwide public health problem, with children being especially vulnerable. No nationwide study had been conducted to assess the I status of Spanish children, and thus an observational, multicentre and cross-sectional study was conducted in Spain to assess the I status and thyroid function in schoolchildren aged 6–7 years. The median urinary I (UI) and thyroid-stimulating hormone (TSH) levels in whole blood were used to assess the I status and thyroid function, respectively. A FFQ was used to determine the consumption of I-rich foods. A total of 1981 schoolchildren (52 % male) were included. The median UI was 173 μg/l, and 17·9 % of children showed UI<100 μg/l. The median UI was higher in males (180·8 v. 153·6 μg/l; P<0·001). Iodised salt (IS) intake at home was 69·8 %. IS consumption and intakes of ≥2 glasses of milk or 1 cup of yogurt/d were associated with significantly higher median UI. Median TSH was 0·90 mU/l and was higher in females (0·98 v. 0·83; P<0·001). In total, 0·5 % of children had known hypothyroidism (derived from the questionnaire) and 7·6 % had TSH levels above reference values. Median TSH was higher in schoolchildren with family history of hypothyroidism. I intake was adequate in Spanish schoolchildren. However, no correlation was found between TSH and median UI in any geographical area. The prevalence of TSH above reference values was high and its association with thyroid autoimmunity should be determined. Further assessment of thyroid autoimmunity in Spanish schoolchildren is desirable.
In this work, we studied the synthesis of biodegradable copolymers of the type poly(isobutyl vinyl ether)-co-(ε-caprolactone) (PIBVE-co-PCL) using a homogeneous mono-cyclopentadienyltitanium catalyst and methylaluminoxane (MAO) as co-catalyst. These copolymers can also be used as plasticizers for flexible poly(vinyl chloride) (PVC), improving its thermal properties. The copolymer PIBVE-co-PCL could be synthesized with a high conversion (>90%). The use of 39 wt.% of the copolymer in the formulation of PVC decreases its glass transition temperature (Tg) by -6.51 °C. By varying the copolymer composition it is possible to obtain PVC with different Tg values that could be used for different applications. A particular application where one could use this type of copolymer is in PVC formulations for the fabrication of blood bags. The toxicity of dioctyl phthalate (DOP), which is the more commonly used plasticizer for PVC, limits the use of these formulations for the mentioned purpose. The PVC plasticized with the biodegradable copolymer showed an increase in the degradation temperature, improving the thermal stability of the PVC formulation in comparison with the phthalates usually used as plasticizers.
This article outlines the use of quenching dilatometry in phase transformation kinetics research in steels under continuous cooling conditions. For this purpose, the phase transformation behavior of a hot-rolled heat treatable steel was investigated over the cooling rate range of 0.1 to 200 °C/s. The start and finish points of the austenite transformation were identified from the dilatometric curves and then the continuous cooling transformation (CCT) diagrams were constructed. The experimental CCT diagrams were verified by microstructural characterization using scanning electron microscopy (SEM) and Vickers micro-hardness. In general, results revealed that the quenching dilatometry technique is a powerful tool for the characterization and study of solid-solid phase transformations in steels. For cooling rates between 200 and 25 °C/s the final microstructure consists on plate-like martensite with the highest hardness values. By contrast, a mixture of phases of ferrite, bainite and pearlite predominated for slower cooling rates (10-0.1 °C/s).
The incidence of Mediterranean spotted fever (MSF) in Catalonia (Spain) has decreased in the last two decades. The prevalence of antibodies to Rickettsia conorii in human beings and dogs in the region of Vallès Occidental (Catalonia) was assessed by indirect immunofluorescence, and the results compared with those obtained in a similar study from 1987. Nineteen (5·0%) out of 383 human serum samples had antibodies to R. conorii. This seroprevalence was significantly lower (11·5%) (P = 0·003) than that recorded in the 1987 survey. Forty-two out (42·0%) of 100 canine serum samples had antibodies to R. conorii. A high proportion of the studied dogs (91·0%) were receiving anti-tick treatment, mainly with permethrin-imidacloprid spot-on (Advantix, Bayer, Germany). The current canine seroprevalence was not significantly different from that recorded in the 1987 survey (36.9%). In conclusion, this study shows a significant decrease in the prevalence of antibodies to R. conorii in the human population of Catalonia in the last 20 years, which corresponds with a decrease in the number of cases of MSF. We suggest that the widespread use of anti-tick treatment in dogs could limit the introduction of ticks to humans due to a reduction of infestation duration in dogs, thus contributing to the decrease in MSF incidence.
Volcanic eruptions can cause loss of life and livelihoods, damage critical infrastructure and have long-term impacts, including displaced populations and long-lasting economic implications. Many factors contribute to disasters from natural hazards. One of these is the institutional capacity to enable hazard assessment for pre-emergency planning to protect populations and environments, provide early warning when volcanoes threaten to erupt, to provide forecasts and scientific advice during volcanic emergencies, and to support post-eruption recovery and remediation. Volcano observatories play a critical role in supporting communities to reduce the adverse effects of eruptions [Chapter 15]. Their capacity to monitor volcanoes is thus a central component of disaster risk reduction.
The resources are not available for extensive monitoring of all 596 historically active volcanoes. The availability of resources varies on local, national, regional and global scales, resulting in highly variable monitoring levels from volcano to volcano. Some countries have observatories dedicated to volcano monitoring, others monitor from within larger organisations, and still others have no permanent monitoring group. Individual volcanoes may have large comprehensive monitoring networks of multiple monitoring systems whilst a neighbouring volcano is unmonitored.
It is therefore vital to understand the monitoring capacity at local, national, regional and global scales to establish how well volcanoes are monitored, the distribution of monitoring equipment, the human resources, experience and education and the instrumental and laboratory capabilities. To this end a database has been developed: Global Volcano Research and Monitoring Institutions Database (GLOVOREMID).
In 2011 IAVCEI funded the development of VOMODA (Volcano Monitoring Database), whose main purpose was to obtain a realistic diagnosis of volcano monitoring and training of the human resources working on volcanological research and monitoring institutions (VRMI) in Latin America. In 2013, VOMODA was adopted and adapted for worldwide use as GLOVOREMID. The Global Volcano Model (GVM) supports this work. It is currently in both Spanish and English. This database will contribute to improving communication and cooperation between scientists and technicians responsible for volcano monitoring and may help to reduce the effects of volcanic crises. GLOVOREMID can be accessed online via http://22.214.171.124/glovoremid/.
We describe the preliminary design of a magnetograph and visible-light imager instrument to study the solar dynamo processes through observations of the solar surface magnetic field distribution. The instrument will provide measurements of the vector magnetic field and of the line-of-sight velocity in the solar photosphere. As the magnetic field anchored at the solar surface produces most of the structures and energetic events in the upper solar atmosphere and significantly influences the heliosphere, the development of this instrument plays an important role in reaching the scientific goals of The Atmospheric and Space Science Coordination (CEA) at the Brazilian National Institute for Space Research (INPE). In particular, the CEA's space weather program will benefit most from the development of this technology. We expect that this project will be the starting point to establish a strong research program on Solar Physics in Brazil. Our main aim is acquiring progressively the know-how to build state-of-the-art solar vector magnetograph and visible-light imagers for space-based platforms to contribute to the efforts of the solar-terrestrial physics community to address the main unanswered questions on how our nearby Star works.
Flux emergence phenomena are relevant at different temporal and spatial scales. We have studied a flux emergence region underneath a filament. This filament elevated itself smoothly, and the associated CME reached the Earth. In this study we investigate the size and the amount of flux in the emergence event. The flux emergence site appeared just beneath a filament. The emergence acquired a size of 24 Mm in half a day. The unsigned magnetic flux density from LOS-magnetograms was around 1 kG at its maximum. The transverse field as well as the filament eruption were also analysed.