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NASA'S Origins, Spectral Interpretation, Resource Identification and Security-Regolith Explorer (OSIRIS-REx) spacecraft recently arrived at the near-Earth asteroid (101955) Bennu, a primitive body that represents the objects that may have brought prebiotic molecules and volatiles such as water to Earth1. Bennu is a low-albedo B-type asteroid2 that has been linked to organic-rich hydrated carbonaceous chondrites3. Such meteorites are altered by ejection from their parent body and contaminated by atmospheric entry and terrestrial microbes. Therefore, the primary mission objective is to return a sample of Bennu to Earth that is pristine-that is, not affected by these processes4. The OSIRIS-REx spacecraft carries a sophisticated suite of instruments to characterize Bennu's global properties, support the selection of a sampling site and document that site at a sub-centimetre scale5-11. Here we consider early OSIRIS-REx observations of Bennu to understand how the asteroid's properties compare to pre-encounter expectations and to assess the prospects for sample return. The bulk composition of Bennu appears to be hydrated and volatile-rich, as expected. However, in contrast to pre-encounter modelling of Bennu's thermal inertia12 and radar polarization ratios13-which indicated a generally smooth surface covered by centimetre-scale particles-resolved imaging reveals an unexpected surficial diversity. The albedo, texture, particle size and roughness are beyond the spacecraft design specifications. On the basis of our pre-encounter knowledge, we developed a sampling strategy to target 50-metre-diameter patches of loose regolith with grain sizes smaller than two centimetres4. We observe only a small number of apparently hazard-free regions, of the order of 5 to 20 metres in extent, the sampling of which poses a substantial challenge to mission success.
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Meio Ambiente Extraterreno/química , Planetas Menores , Voo Espacial , Exobiologia , Origem da Vida , Voo Espacial/instrumentação , Propriedades de SuperfícieRESUMO
Two of the instruments onboard the OSIRIS-REx spacecraft, the MapCam color imager and the OVIRS visible and infrared spectrometer, observed the surface of asteroid (101955) Bennu in partially overlapping wavelengths. Significant scientific advances have been enabled by using data from these two instruments in tandem, but a robust statistical understanding of their relationship is needed for future analyses to cross-compare their data as accurately and sensitively as possible. Here we present a cross-instrument comparison of data acquired by MapCam and OVIRS, including methods and results for all global and site-specific observation campaigns in which both instruments were active. In our analysis, we consider both the absolute radiometric offset and the relative (normalized) variation between the two instruments; we find that both depend strongly on the photometric and instrumental conditions during the observation. The two instruments have a large absolute offset (>15%) due to their independent radiometric calibrations. However, they are very consistent (relative offset as low as 1%) when each instrument's response is normalized at a single wavelength, particularly at low phase angles where shadows on Bennu's rough surface are minimized. We recommend using the global datasets acquired at 12:30 pm local solar time for cross-comparisons; data acquired at higher phase angles have larger uncertainties.
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Carbonaceous asteroids, such as (101955) Bennu, preserve material from the early Solar System, including volatile compounds and organic molecules. We report spacecraft imaging and spectral data collected during and after retrieval of a sample from Bennu's surface. The sampling event mobilized rocks and dust into a debris plume, excavating a 9-meter-long elliptical crater. This exposed material is darker, spectrally redder, and more abundant in fine particulates than the original surface. The bulk density of the displaced subsurface material was 500 to 700 kilograms per cubic meter, which is about half that of the whole asteroid. Particulates that landed on instrument optics spectrally resemble aqueously altered carbonaceous meteorites. The spacecraft stored 250 ± 101 grams of material, which will be delivered to Earth in 2023.
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The OSIRIS-REx Camera Suite (OCAMS) onboard the OSIRIS-REx spacecraft is used to study the shape and surface of the mission's target, asteroid (101955) Bennu, in support of the selection of a sampling site. We present calibration methods and results for the three OCAMS cameras-MapCam, PolyCam, and SamCam-using data from pre-flight and in-flight calibration campaigns. Pre-flight calibrations established a baseline for a variety of camera properties, including bias and dark behavior, flat fields, stray light, and radiometric calibration. In-flight activities updated these calibrations where possible, allowing us to confidently measure Bennu's surface. Accurate calibration is critical not only for establishing a global understanding of Bennu, but also for enabling analyses of potential sampling locations and for providing scientific context for the returned sample.
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The composition of asteroids and their connection to meteorites provide insight into geologic processes that occurred in the early Solar System. We present spectra of the Nightingale crater region on near-Earth asteroid Bennu with a distinct infrared absorption around 3.4 micrometers. Corresponding images of boulders show centimeters-thick, roughly meter-long bright veins. We interpret the veins as being composed of carbonates, similar to those found in aqueously altered carbonaceous chondrite meteorites. If the veins on Bennu are carbonates, fluid flow and hydrothermal deposition on Bennu's parent body would have occurred on kilometer scales for thousands to millions of years. This suggests large-scale, open-system hydrothermal alteration of carbonaceous asteroids in the early Solar System.
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Thermal inertia and surface roughness are proxies for the physical characteristics of planetary surfaces. Global maps of these two properties distinguish the boulder population on near-Earth asteroid (NEA) (101955) Bennu into two types that differ in strength, and both have lower thermal inertia than expected for boulders and meteorites. Neither has strongly temperature-dependent thermal properties. The weaker boulder type probably would not survive atmospheric entry and thus may not be represented in the meteorite collection. The maps also show a high-thermal inertia band at Bennu's equator, which might be explained by processes such as compaction or strength sorting during mass movement, but these explanations are not wholly consistent with other data. Our findings imply that other C-complex NEAs likely have boulders similar to those on Bennu rather than finer-particulate regoliths. A tentative correlation between albedo and thermal inertia of C-complex NEAs may be due to relative abundances of boulder types.
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Visible-wavelength color and reflectance provide information about the geologic history of planetary surfaces. Here we present multispectral images (0.44 to 0.89 micrometers) of near-Earth asteroid (101955) Bennu. The surface has variable colors overlain on a moderately blue global terrain. Two primary boulder types are distinguishable by their reflectance and texture. Space weathering of Bennu surface materials does not simply progress from red to blue (or vice versa). Instead, freshly exposed, redder surfaces initially brighten in the near-ultraviolet region (i.e., become bluer at shorter wavelengths), then brighten in the visible to near-infrared region, leading to Bennu's moderately blue average color. Craters indicate that the time scale of these color changes is ~105 years. We attribute the reflectance and color variation to a combination of primordial heterogeneity and varying exposure ages.
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The population of heavy ions in lo's torus is ultimately derived from lo volcanism. Groundbased infrared observations of lo between October 1991 and March 1992, contemporaneous with the 8 February 1992 Ulysses observations of the lo torus, show that volcanic thermal emission was at the low end of the normal range at all lo longitudes during this period. In particular, the dominant hot spot Loki was quiescent. Resolved images show that there were at least four hot spots on lo's Jupiter-facing hemisphere, including Loki and a long-lived spot on the leading hemisphere (Kanehekili), of comparable 3.5-micrometer brightness but higher temperature.
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During its approach to asteroid (101955) Bennu, NASA's Origins, Spectral Interpretation, Resource Identification, and Security-Regolith Explorer (OSIRIS-REx) spacecraft surveyed Bennu's immediate environment, photometric properties, and rotation state. Discovery of a dusty environment, a natural satellite, or unexpected asteroid characteristics would have had consequences for the mission's safety and observation strategy. Here we show that spacecraft observations during this period were highly sensitive to satellites (sub-meter scale) but reveal none, although later navigational images indicate that further investigation is needed. We constrain average dust production in September 2018 from Bennu's surface to an upper limit of 150 g s-1 averaged over 34 min. Bennu's disk-integrated photometric phase function validates measurements from the pre-encounter astronomical campaign. We demonstrate that Bennu's rotation rate is accelerating continuously at 3.63 ± 0.52 × 10-6 degrees day-2, likely due to the Yarkovsky-O'Keefe-Radzievskii-Paddack (YORP) effect, with evolutionary implications.
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Early spectral data from the Origins, Spectral Interpretation, Resource Identification, and Security-Regolith Explorer (OSIRIS-REx) mission reveal evidence for abundant hydrated minerals on the surface of near-Earth asteroid (101955) Bennu in the form of a near-infrared absorption near 2.7 µm and thermal infrared spectral features that are most similar to those of aqueously altered CM carbonaceous chondrites. We observe these spectral features across the surface of Bennu, and there is no evidence of substantial rotational variability at the spatial scales of tens to hundreds of meters observed to date. In the visible and near-infrared (0.4 to 2.4 µm) Bennu's spectrum appears featureless and with a blue (negative) slope, confirming previous ground-based observations. Bennu may represent a class of objects that could have brought volatiles and organic chemistry to Earth.
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INTRODUCTION: Next-generation sequencing (NGS), now embedded within genomic laboratories, is well suited to the detection of small sequence changes but is less well adapt for detecting structural variants (SV), mainly due to the relatively short sequence reads. Of the available target enrichment methods, bait capture or whole-genome sequencing appears better suited to detecting SV as there is less PCR amplification and is therefore more representative of the genome being sequenced. MATERIAL AND METHODS: In 2015, we described the first inversion/deletion causing εγδß- thalassemia using an NGS approach, with base-pair resolution. Bioinformatic processing of the sequencing data was manual and time-consuming. The methodology relied on detecting the presence or absence of the SV by assessing sequence coverage and then mapping the deletion by capturing and sequencing breakpoint spanning reads (split reads). In the period between developing more automated analytical methods, we identified the first duplication of the entire beta globin cluster. RESULTS: Detecting the presence of the SV is reliable but capturing the breakpoint spanning reads is challenging. Confirmation by Sanger sequencing a breakpoint spanning amplicon has confirmed the NGS results in all cases. CONCLUSIONS: We have now streamlined and automated the bioinformatic approach using Exome Depth to assess sequence coverage and Delly to detect split and discordant reads. The combined NGS and bioinformatic strategy has proven to be highly successful and applicable to routine diagnostics.
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Pontos de Quebra do Cromossomo , Rearranjo Gênico , Genoma Humano , Globinas/genética , Sequenciamento de Nucleotídeos em Larga Escala/métodos , Família Multigênica , Talassemia/genética , HumanosRESUMO
Alpha-1-antitrypsin (AAT) is a protease inhibitor (PI), deficiency of which is associated with emphysema and liver disease. The most common deficiency alleles are the S (p.Glu288Val) and Z (p.Glu366Lys) alleles. The Z allele predisposes the AAT protein to polymerization with accumulation in hepatocytes leading to liver disease in PIZ individuals. Most AAT variants have a characteristic pattern of isoforms by isoelectric focusing (IEF). A novel AAT variant called PIZbristol (p.Thr109Met) with an unusual pattern on IEF was described in 1997. We report a patient with the PIZZbristol phenotype that has not been previously described. A 43-year-old man was referred by his GP to a respiratory clinic for breathlessness. His AAT concentration was 0.50 g/L (reference range 1.0-2.0 g/L). An unusual pattern on IEF was seen and sequencing revealed the presence of the rare variant Zbristol in combination with the Z mutation. This is the second reported case of Zbristol and the first in combination with the Z mutation. The patient maintained plasma AAT concentrations around 0.50-0.70 g/L which suggested that the Zbristol protein contributed to the low plasma concentration of AAT. The clinical symptoms associated with PIZ are usually attributed to the plasma deficiency, but his only respiratory complaint was that of breathlessness. This suggests that the PIZZbristol phenotype may confer an effect on respiratory function but is not involved in liver disease.
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Alelos , Heterozigoto , Mutação/genética , alfa 1-Antitripsina/genética , Adulto , Sequência de Bases , Genótipo , Humanos , MasculinoRESUMO
Two experiments were conducted to determine the effects of wet distillers grain plus solubles (WDG; <15% sorghum grain) concentration in steam-flaked corn (SFC) diets on feedlot performance, carcass characteristics, ruminal fermentation, and diet digestibility. In Exp. 1, six hundred crossbred steers (364 ± 35 kg of BW) were used in a randomized complete block design with 8 replications/treatment. Dietary treatments consisted of a dry-rolled corn (DRC) control diet without WDG, a SFC control without WDG, and SFC with 4 WDG concentrations (15, 30, 45, 60% DM basis) replacing SFC, cottonseed meal, urea, and yellow grease. Final BW, ADG, G:F, HCW, and 12th-rib fat depth were greater (P ≤ 0.05) for SFC compared with DRC. Dry matter intake tended (P = 0.06) to be greater for DRC compared with SFC. Final BW, ADG, G:F, HCW, 12th-rib fat depth, and marbling score decreased linearly (P < 0.01) with increasing WDG concentration. In Exp. 2, six ruminally and duodenally cannulated crossbred steers (481 ± 18 kg of BW) were used in a 6 × 6 Latin square design using the same diets as Exp. 1. Ruminal, postruminal, and total tract OM and NDF digestibility were not different (P > 0.14) for DRC compared with SFC. Ruminal and total tract starch digestibility were greater (P < 0.01) for SFC compared with DRC. Dry matter and OM intake were not different (P ≥ 0.43) among WDG treatments. Ruminal and total tract OM digestibility decreased linearly (P < 0.01) with increasing WDG concentration. Intake, ruminal digestibility, and total tract digestibility of NDF increased linearly (P < 0.01) with increasing WDG concentration. Starch intake decreased linearly (P < 0.01) with increasing WDG concentration. Ruminal starch digestibility increased (P = 0.01) with increasing concentration of WDG. Total tract starch digestibility decreased quadratically (P < 0.01) with increasing concentration of WDG. Feeding SFC improved steer performance compared with DRC. The concentration of WDG and corn processing method influences nutrient digestibility and ruminal fermentation. The addition of WDG in SFC-based diets appears to negatively affect animal performance by diluting the energy density of the diet.
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Ração Animal/análise , Composição Corporal/efeitos dos fármacos , Bovinos/crescimento & desenvolvimento , Dieta/veterinária , Digestão/fisiologia , Zea mays/química , Fenômenos Fisiológicos da Nutrição Animal , Animais , Metabolismo Energético/fisiologia , Fermentação , Manipulação de Alimentos , Masculino , Nitrogênio/metabolismo , Rúmen/microbiologia , Rúmen/fisiologiaRESUMO
A 2-yr study was conducted using a 3 × 2 factorial arrangement of treatments to evaluate the effects of feeding dried distillers grains throughout a beef production system on performance, carcass characteristics, and fatty acid profile of beef. Factors were wheat pasture supplement [no supplement (CON), dry-rolled corn (DRC), and dried distillers grains (DDG)] fed at 0.5% BW daily and finishing diet [steam-flaked corn based diet containing 0 (SFC) or 35% (35DDG) DDG]. Each year, 60 preconditioned Hereford steers (initial BW = 198 kg ± 3) grazed winter wheat pasture with or without supplement. Body weight gain was 8% greater for steers consuming DDG supplement compared with CON and DRC steers (P < 0.01). After the grazing period, pastures within supplement treatment were randomly assigned to SFC or 35DDG. There was no supplement by finishing diet interaction for any performance or carcass variable of interest (P ≥ 0.41). Previous supplementation on winter wheat affected BW at feedlot entry and adjusted G:F (P ≤ 0.05) but had no effect on finishing ADG or carcass traits (P ≥ 0.12). On a carcass-adjusted basis, steers consuming 35DDG had reduced final BW, ADG, G:F, and total BW gain throughout the system (P ≤ 0.04) compared with SFC. Additionally, steers consuming 35DDG had reduced HCW, dressing percent, and fat thickness (P ≤ 0.03) compared with SFC. There was a supplement by finishing diet interaction (P = 0.02) for 18:0, in which cattle supplemented with DRC and fed the SFC finishing diet had the lowest concentration of 18:0 but DRC supplemented steers fed the 35DDG diet had the greatest concentration. The interaction was not significant (P ≥ 0.18) for other fatty acids. Main effects of supplement and finishing diet affected (P ≤ 0.05) several other fatty acids of interest, particularly 18:2, which is associated with reduced flavor-stability of beef. The use of DDG as a supplement to wheat pasture resulted in greater ADG during wheat grazing and heavier BW at feedlot entry, but final BW was not different from CON or DRC groups. Feeding DDG at 35% DM in steam-flaked corn-based finishing diets reduced ADG, G:F, and HCW, and affected the fatty acid composition of beef.
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Ração Animal/análise , Ácidos Graxos/química , Carne/análise , Fenômenos Fisiológicos da Nutrição Animal , Animais , Composição Corporal , Bovinos , Dieta/veterinária , Ingestão de Energia , Masculino , Triticum , Zea maysRESUMO
The near-infrared spectrometer on board the Japanese Hayabusa spacecraft found a variation of more than 10% in albedo and absorption band depth in the surface reflectance of asteroid 25143 Itokawa. Spectral shape over the 1-micrometer absorption band indicates that the surface of this body has an olivine-rich mineral assemblage potentially similar to that of LL5 or LL6 chondrites. Diversity in the physical condition of Itokawa's surface appears to be larger than for other S-type asteroids previously explored by spacecraft, such as 433 Eros.
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In order to determine the role of the spinal muscles in the etiology of the scoliosis associated with Duchenne muscular dystrophy, we carried out a study of 16 children using computerized tomography. Scans were taken at the level of the 9th dorsal and the 3rd lumbar vertebrae. Density readings were taken in the medial and lateral portions of the erector spinae. The results confirmed the loss of muscle and replacement by fat which was greater on the concave side. The density differences between the convex and concave sides correlated with the degree of curvature measured by Cobb's method. Computed tomography may offer a prognostic indicator in the development of scoliosis.
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Distrofias Musculares/diagnóstico por imagem , Escoliose/diagnóstico por imagem , Tomografia Computadorizada por Raios X , Adolescente , Criança , Feminino , Humanos , Masculino , Atrofia Muscular Espinal/diagnóstico por imagem , Distrofias Musculares/complicações , Escoliose/etiologiaRESUMO
The haemoglobinopathies refer to a diverse group of inherited disorders characterized by a reduced synthesis of one or more globin chains (thalassaemias) or the synthesis of a structurally abnormal haemoglobin (Hb). In prevalent regions, the thalassaemias often coexist with a variety of structural Hb variants giving rise to complex genotypes and an extremely wide spectrum of clinical and haematological phenotypes. An appreciation of these phenotypes is needed to facilitate the definitive diagnosis of the causative mutations to inform management and counselling. Haematological and biochemical investigations, and family studies provide essential clues to the different interactions and are fundamental to DNA diagnostics of the Hb disorders. With the exception of a few rare deletions and rearrangements, the molecular lesions causing haemoglobinopathies are all identifiable by PCR-based techniques. Although a full spectrum of >1000 mutations causing haemoglobinopathies has been documented, in practice only a limited number are associated with disease states and clinical significance. Furthermore, each at-risk ethnic group has its own combination of common Hb variants and thalassaemia mutations. Prior identification of the ethnic origin is thus an important part of the diagnostic strategy which becomes less reliable in the UK because of the large ethnic mix. Although the current approach using a combination of different PCR-based techniques seems to work in most laboratories, practice pressures with the imminent implementation of universal antenatal screening for clinically significant Hb disorders in the UK will require a higher throughput approach for DNA diagnostics in the near future. The complex mutational spectrum and the compactness of the globin genes places them in an ideal position for the different non-gel based analytical platforms.
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Hemoglobinopatias/diagnóstico , Técnicas de Diagnóstico Molecular , Anemia Falciforme/diagnóstico , Anemia Falciforme/genética , Análise Mutacional de DNA , Técnicas Genéticas , Hemoglobinopatias/genética , Humanos , Talassemia/diagnóstico , Talassemia/genéticaRESUMO
Review of the spinal radiographs of a consecutive series of 11 patients with Pfeiffer syndrome presenting to the Australian Craniofacial Unit was performed. The prevalence of cervical spine fusions was high, and the pattern of fusion complex. Isolated anomalies were evident at lower levels, including two cases of sacrococcygeal eversion. Spinal anomalies occur more frequently in the more severely involved cases of Pfeiffer syndrome emphasizing the generalized dysostotic nature of this condition.
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Acrocefalossindactilia/complicações , Vértebras Cervicais/anormalidades , Humanos , Lactente , SinostoseRESUMO
A review of Pfeiffer's syndrome patients presenting in infancy identifies characteristic patterns of onset and progression of premature sutural fusion. Classic Pfeiffer's syndrome manifests symmetrical bicoronal synostosis; all other sutures are normal. The remaining patients, with a more extreme phenotypic expression, have superimposed on bicoronal synostosis progressive involvement of other cranial sutures, frequent hydrocephalus and craniolacunae, suggesting craniostenosis and intracranial hypertension. Although similar in clinical features and outcome, these patients have been subgrouped according to the presence or absence of a cloverleaf skull anomaly.
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Acrocefalossindactilia/patologia , Craniossinostoses/patologia , Crânio/anormalidades , Acrocefalossindactilia/classificação , Pré-Escolar , Humanos , Hidrocefalia/patologia , Lactente , Recém-Nascido , Pressão Intracraniana , Radiografia , Crânio/diagnóstico por imagemRESUMO
Although the need to prevent the secondary effects of craniosynostosis on the central nervous system is fundamental to the practice of craniofacial surgery, the detailed structural anatomy of the central nervous system in the syndromal craniosynostoses has become the subject of recent interest. A clinical and radiographic review of a population of 59 patients with Crouzon's syndrome determined the frequency of central nervous system deformities. Twelve percent of patients had evidence of decreased mental function. Ventriculomegaly on computed tomographic scan was present in 51% and found to be of three grades: mild, moderate, and severe (hydrocephalus). This was nonprogressive in 7 of the 11 patients with follow-up computed tomographic scans. Ten patients underwent surgical release to increase intracranial space; however, 6 of these patients showed no progression in ventricular size. Nonventricular anomalies were found less frequently (14%). Central nervous system findings show fewer nonventricular anomalies than in Apert's syndrome patients, with a corresponding higher mental function. The principal anomaly of ventriculomegaly is not directly related to suture defect and may represent a primary brain abnormality. Recommendations are made for the assessment and management of patients with Crouzon's syndrome with reference to these areas.