Miracle-dz/UniFAR-FTUs huggingface dataset:
Delayed diagnosis of adrenal insufficiency in a patient with severe penoscrotal hypospadias due to two novel P450 side-change cleavage enzyme (CYP11A1) mutations (p.R360W; p.R405X)

Context Cytochrome P450 side-chain cleavage enzyme (CYP11A1) catalyses the first and rate-limiting step of steroidogenesis, the conversion of cholesterol to pregnenolone. CYP11A1 deficiency is commonly associated with adrenal insufficiency, and in 46,XY individuals, with variable degrees of disorder of sex development (DSD). Patient and methods The patient was born with hyperpigmentation, micropenis, penoscrotal hypospadias, and mild cryptorchidism. Biochemical and hormonal findings were normal except for low testosterone and low-borderline cortisol. However, no short synacthen test was undertaken. Development was unremarkable apart from an episode labeled as sepsis with documented hyperkalemia and elevated C-reactive protein at age 15 days. Diagnosis of 46,XY DSD was made at age 2.5 months. Progression of hyperpigmentation prompted further investigations and the diagnosis of adrenal insufficiency was established at 2 years with raised ACTH, normal renin activity, and failure of cortisol to respond to short synacthen test. Genetic analyses were performed. The novel CYP11A1 mutations were characterized in vitro and in silico. Results The patient was compound heterozygous for two novel CYP11A1 mutations, p.R360W and p.R405X. p.R360W retained 30–40% of wild-type activity. In silico analyses confirmed these findings and indicated that p.R405X is severe. Conclusions This study demonstrates the pathogenicity of two novel CYP11A1 mutations found in a patient with delayed diagnosis of CYP11A1 deficiency. Patients with partial deficiencies of steroidogenic enzymes are at risk to be misdiagnosed if adrenal function is not assessed. The adrenocortical function should be routinely assessed in all patients with DSD including severe hypospadias of unknown origin to prevent life-threatening adrenal crises.
The influence of dam and lakes on the Yangtze River streamflow: long‐range correlation and complexity analyses

Employing long‐range correlation, complexity features and clustering, this study investigated the influence of dam and lake‐river systems on the Yangtze River flow. The impact of the Gezhouba Dam and the lake systems on streamflow was evaluated by analysing daily streamflow records at the Cuntan, the Yichang and the Datong station. Results indicated no evident influence of the Gezhouba Dam on streamflow changes. Distinct differences in scaling behaviour, long‐range correlation and clustering of streamflow at the Datong station when compared with those at the Cuntan and Yichang stations undoubtedly showed the influence of water storage and the buffering effect of the lake systems between the Datong station and other two hydrological stations on streamflow in the lower Yangtze River basin. Decreased regularity, enhanced long‐range correlation and increased clustering of streamflow in the lower Yangtze River basin due to the effect of water storage of the lake systems were corroborated. Copyright © 2011 John Wiley & Sons, Ltd.
Details of Magnetic Polarity Transition Recorded in Chinese Loess

The paleomagnetism of the loess unit L8 in Xifeng section of the Chinese Loess Plateau has been studied to determine the behavior of the Matuyama-Brunhes transitional field. Three primary results have been obtained. (1) The M-B transition is located in the low part of L8 and the time duration of this transition defined by directional changes is estimated to be about 3, 600 yrs, whereas the intensity changes last about 8, 000 yrs, both of the estimations being based on the SPECMAP δ18O time scale (IMBRIE et al., 1984). (2) The morphology of the M-B transition field is characterized not by a single reversal course, but at least by three reversals and one aborted reversal course. The VGP paths obtained are not consistent with a non-dipole axisymmetric field. (3) The geomagnetic fields during this transition seem to have the configurations that dipole field component is at least comparable to the non-dipole ones in magnitude, which does not support the commonly-accepted viewpoint.
Teleconnections between the tropical Pacific and the Amundsen‐Bellinghausens Sea: Role of the El Niño/Southern Oscillation

[1] Tropical Pacific–high southern latitude teleconnections are shown to be caused by Rossby wave dynamics and are sensitive to the exact pattern of sea surface temperature (SST) anomalies forcing anomalous ascent. Further, the signal becomes obscured by local natural variability at higher southern latitudes. Here it is shown that a Rossby wave with a source in the tropical Pacific can explain the general pattern of teleconnection found during the southern winter. Upper level divergence associated with deep convection in the tropical Pacific plays a major role in the generation of these Rossby waves. SST anomalies associated with El Nino/Southern Oscillation force the tropical deep convection. However, the relationship between deep convection and SST anomalies is complex and modeling experiments show that in areas of large-scale subsidence positive SST anomalies would have to be larger than any observed anomalies (>4°C) before they have any effect on the vertical motion. Large variations are observed between the high-latitude response to El Nino with apparently similar tropical forcings. This makes accurate prediction of the high-latitude response to tropical change difficult. Ensemble GCM runs show that variations due to the natural variation of the zonal flow in the Southern Hemisphere can swamp the signal resulting from changes in the Rossby wave source region.
Particle production in the remote marine atmosphere: Cloud outflow and subsidence during ACE 1

During November and December 1995 the First Aerosol Characterization Experiment (ACE 1) was undertaken as part of the International Global Atmospheric Chemistry (IGAC) Program. A key objective of the aircraft component of this experiment included the identification of source regions for new particles in the remote marine atmosphere. No evidence was found for particle production in the marine boundary layer (MBL), but extensive observations of enhanced layers of “new” particles were found in the free troposphere (FT). These layers were generally found at altitudes that corresponded to nearby cloud top heights and exhibited concentrations that exceeded MBL air by about 1000 to 10,000 cm−3. Many layers were also associated with enhanced concentrations of water vapor and sulfuric acid. Focused cloud experiments demonstrated that these particles were recently formed and originated in the outflow region of clouds preferentially after late morning when photochemical processes had become sufficiently active. The production and growth of these particles were rapid, and they appeared to evolve and merge with a background nuclei spectra on the scale of hours to a day. These measurements in midlatitude postfrontal air undergoing shallow convection indicated that particles were produced in the trailing cloud outflow region as low as 2 km altitude and that the base of this layer extended down to the inversion in the region of postfrontal subsidence. Other ACE 1 measurements made in transit near equatorial convection also revealed small nuclei aloft at altitudes up to 6 km and a trend in decreasing concentrations, in conjunction with steadily increasing size, during descent toward the surface. The concentration and size distributions in this these regions indicate that significant numbers of new nuclei are formed aloft in various cloud outflow regions and that they can provide a source for the MBL aerosol via subsidence. This nucleation appears to be favored when existing surface areas approach or drop below about 5–10 μm2 cm−3.
Turbulent flux calculation in the polar stable boundary layer: Multiresolution flux decomposition and wavelet analysis

[1] Airborne measurements in the Arctic stable boundary layer were performed using the helicopter-borne turbulence measurement system Helipod. The observations were carried out during the ARK-XII summer expedition of the research icebreaker Polarstern in the Arctic ocean. The boundary layer over closed sea ice exhibited mainly weakly stable stratification. Only flights in continuous turbulence were chosen for the analysis. The measurements of sensible heat flux H and latent heat flux λE were made 200 km away from land to reduce the influence of any captured mesoscale flux. Nevertheless, the analysis of multiresolution (MR) cospectra yield some small mesoscale flux contribution, visible at the larger timescales. A MR gap timescale τgap was defined to separate the turbulent flux from the mesoscale flux and used for the recalculation of the turbulent fluxes after high-pass filtering. This procedure also reduced the statistical error of the fluxes significantly. For comparison, wavelet transformations were performed that led to wavelet gap scales of the fluxes in good agreement with the MR gap scale. Additionally, the wavelet covariance gave a good representation of the homogeneity of the kinematic heat flux w′θ′ and the kinematic moisture flux w′m′ in time.
Modeling of an Anti-Tilting Outdoor Mobile Robot

This paper reports on the modeling of an anti-tilting outdoor mobile robot moving on an uneven terrain that is modeled as a warped, smooth surface. The dynamics has been derived using the natural orthogonal complement, and takes into account the terrain geometry, which has not been investigated before. The Euler-Rodrigues parameters have been chosen to describe the orientation of bodies in space because of their robustness. Simulation of the robot moving on distinct types of terrain are provided.Copyright © 2005 by ASME
Quantifying the impact of former glaciation on catchment‐wide denudation rates derived from cosmogenic 10Be

Glacial denudation can significantly perturb terrestrial cosmogenic nuclide depth profiles and, if this is not corrected for, derived apparent denudation rates will overestimate the actual denudation rates. Here we determine how much 10Be‐derived denudation rates – calculated under the assumption of steady state – deviate from actual denudation rates as a function of three parameters: (1) the total amount of glacial denudation, (2) the post‐glacial denudation rate and (3) the time elapsed since deglaciation. We provide correction lines for the full parameter space explored (glacial denudation: 0.01–100 m; post‐glacial denudation rate: 1–1000 mm/ka; deglaciation: 1–100 ka before present), to evaluate and, if necessary, correct denudation rates for the impact of glacial denudation. Applied to 10Be‐derived catchment‐averaged denudation rates for formerly glaciated catchments in the Black Forest, Germany, we find that uncorrected denudation rates overestimate actual rates by up to a factor of three.
Time-Dependent Dispersivity of Linearly Sorbing Solutes in a Single Fracture with Matrix Diffusion

Field studies show that the variance of travel distance often increases nonlinearly with time elapsed after release of solute tracers. The nonlinear relationship between variance of travel distance and time is attributed to the heterogeneity of the porous media. To describe the transport in such a heterogeneous system, a time-dependent dispersivity is necessary. Though more attention has been devoted toward the study of non-Fickian dispersion at early time, there are no known studies that explicitly describe the dispersivity behavior in a fracture–matrix-coupled system. The observation from numerical results suggests that dispersivity has a time-dependent behavior and it reaches asymptotic values after a long time. The preasymptotic behavior of a solute front in fracture is characterized by increasing effective dispersivity with time. The role of fracture and matrix transport parameters on this behavior is analyzed for linearly sorbing solutes. Approximate expression is provided for the time-dependent dispersivity of the solute front in a single fracture with matrix diffusion and the expression for the time required to attain the asymptotic behavior is also obtained. A comparison of the front dispersivity behavior between parallel multiple fractures with a constant aperture width model and smooth parallel multiple fractures with a varying aperture width model is done.
Generating starting models for seismic refraction tomography with common offset stacks

Common offset refraction (COR) traveltime attributes are derived from multi-fold data with novel adaptations of the generalised reciprocal method (GRM). COR GRM stacks are generated from a refraction equivalent of common midpoint (CMP) gathers, which are computed at each CMP with the COR GRM algorithms. The COR GRM stacks, which generate detailed spatially varying attributes for each layer detected in the near surface region, provide useful starting models for automatic refraction tomography. The spatial resolution of the depth models of the wavepath eikonal traveltime (WET) refraction tomograms obtained with starting models derived with the COR GRM is similar to the WET tomogram obtained with the standard GRM, whereas the COR GRM seismic velocity model is a smoothed version of the standard GRM model. In all cases, the GRM-derived WET tomograms avoid the generation of undetectable artefacts with common implementations of automatic refraction tomography, which can occur with the use of default starting models consisting of smooth vertical velocity gradients and with the need to minimise misfit errors through over-processing. The COR GRM attributes demonstrate that the traveltime data are consistent with minimal penetration within the sub-weathering, representative of uniform seismic velocities, and that the spatial variations in the time model and seismic velocities are more significant than any variations caused by vertical velocity gradients in the sub-weathered zone. However, the occurrence of vertical velocity gradients in the sub-weathering largely remains unresolved because minimal penetration of the first arrivals can occur even with large vertical velocity gradients, such as the hyperbolic velocity function. The WET tomograms generated with the COR GRM time model and seismic velocity attributes are generally very similar visually to the starting models, even though the misfit errors may differ. It is concluded that COR GRM starting models can frequently be a useful alternative to refraction tomography. Common offset implementations of the generalised reciprocal method generate detailed spatially varying models of the near surface from multi-fold seismic refraction data. These models facilitate the elimination of undetectable artefacts with automatic refraction tomography, the validation of vertical velocity gradients and the convenient evaluation of large sets of traveltime data.
Dust haze in Valles Marineris observed by HRSC and OMEGA on board Mars Express

[1] We present analysis of a bright haze observed inside Valles Marineris, which formed in mid northern spring. The data were collected by the High Resolution Stereo Camera (HRSC) and the imaging spectrometer, Observatoire pour la Mineralogie, l'Eau, les Glaces et l'Activite (OMEGA), aboard Mars Express. This study provides a case example of the power of simultaneous multiple emission angle and hyperspectral imaging for study of aerosols and clouds in the Martian atmosphere. The haze appeared thinner after three days and disappeared in nine days. It was limited to a 2-km layer at the bottom of the canyon. The color was redder than the underlying surface. The analysis of the OMEGA spectra indicates that this haze was composed of dust particles. The dust layer appeared brighter with the HRSC stereo channels than the nadir channel due to longer scattering paths. We have estimated the optical depth of the haze by fitting both HRSC and OMEGA data with radiative transfer calculations. The retrieval of the optical depth is very sensitive to the aerosol scattering model used and the reflectance of the surface. Applying an aerosol scattering model derived from sky surveys at a constant elevation by the Imager for Mars Pathfinder, the optical depth of the haze is estimated from HRSC data to be within 1.7 to 2.3 at the wavelength (λ) of 0.675 μm. The wavelength dependence is obtained from OMEGA spectrum. It increases to 2.2–2.6 at λ = 1.35 μm and moderately decreases to 1.2–1.8 at λ = 2.4 μm.
The buildup of the ice sheet in central Greenland

A study of the isotopic and gas composition of the basal silty ice recovered by the Greenland Ice Core Project (GRIP) core indicates that local ice formed in the absence of the Greenland Ice Sheet is still preserved at Summit. Such ice developed most probably within a peat deposit in a permafrost environment. This local ice was subsequently intimately mixed with glacier ice from an advancing ice sheet progressing on the site. This is in agreement with the “highland origin and windward growth” hypothesis for ice sheet development, not for an in situ or regional growth from snowbanks. The basal ice from the GRIP core possibly dates back to the original buildup of the Greenland Ice Sheet 2.4 million years ago.
Secondary organic aerosol formation from ethylene in the urban atmosphere of Hong Kong: A multiphase chemical modeling study

[1] Ethylene is one of the most abundant anthropogenic volatile organic compounds (VOCs) in urban atmospheres. The potential of forming secondary organic aerosol (SOA) by this smallest alkene in urban environments has not previously been considered because of the general lack of attention to SOA formation through in-cloud processing of soluble oxidation products. Ethylene reacts with OH radicals to form glycolaldehyde as one of its major products. Glycolaldehyde partitions into cloud water where it is oxidized to glyoxylic acid and oxalic acid and thereby contributing to SOA forming. A chemistry box model incorporating explicit multiphase reactions of relevant C2 oxygenated species is used to evaluate the SOA mass that can be formed from ethylene under the typical conditions of Hong Kong ambient atmosphere. In an idealized scenario involving five cloud cycles in a period of 5 d, the model predicts 59 ng m−3 aerosol phase organic acids from ethylene, corresponding to an aerosol yield of 0.3%. Sensitivity tests show that the SOA mass formed in the model depends strongly on the cloud liquid water content (LWC), increasing from 59 ng m−3 at a LWC of 0.3 g m−3 in the base case to 208 ng m−3 at a LWC of 1.0 g m−3. The SOA mass predicted increases with increasing cloud period length and is affected by the time of the day when the cloud events occur; however, it is little affected by the initial pH value of cloud droplets. The modeling results indicate that in-cloud processing is a viable pathway for SOA formation from ethylene. A more general implication is that in-cloud processing is a potentially important pathway to generate SOA, especially for places such as Hong Kong, where the annual cloud coverage is over 50%.
Atmospheric fluxes of 210Pb to the western Mediterranean Sea and the Saharan dust influence

[1] Pb 210 is a well known tracer of particle dynamics in the marine environment. Geochemical models partially rely on the knowledge of its atmospheric input. Unfortunately, this is poorly known in the western Mediterranean Sea, especially regarding long-term records. In this work we have evaluated the 210Pb annual atmospheric flux to this region from the analysis of 12 soil cores collected from coastal and island sites and total atmospheric deposition collected in Corsica during 1 year. The 210Pb fluxes ranged from 34 ± 3 to 121 ± 12 Bq m−2 yr−1, with an average of 75 Bq m−2 yr−1, and were strongly correlated (R2 = 0.95) with mean annual rainfall. This provides the possibility to determine 210Pb fluxes in a given location if the mean annual rainfall is well known, a useful outcome for both marine biogeochemical and soil erosion studies in this region. We have also estimated the mean annual atmospheric flux of 210Pb due to Saharan dust events registered in total deposition north of Barcelona during the last 17 years, yielding a value of 20 Bq m−2 yr−1. This flux represents a fraction of about 16% of the total atmospheric deposition of 210Pb in this area, but it could be up to 50% in sites with lower rainfall.
Telespectrometrical estimation of water transparency, chlorophyll-a and total phosphorus concentration of Lake Peipsi

Abstract The possibilities of solving the passive optical remote sensing inverse problem in the case of a turbid, multi-componental aquatic environment are considered using the data on Lake Peipsi. A well known method based on the correlative relations between the characteristics of the remotely-sensed radiance spectra and other characteristics of the water body is used. Telespectrometrical measurements above Lake Peipsi as well as the simultaneous underwater measurements were carried out during two helicopter and two ship expeditions. It was shown that using the remote sensing data obtained by means of a single measurement series it is possible to describe rather well the actual spatial distribution of the water mass characteristics on Lake Peipsi, but only for the expedition under consideration. However, not a single remote sensing characteristic of the twelve considered by us can give well matching isolines if we use the regression formulae determined on the basis of the whole data set (four expedition.
Laboratory measurements of the seismic properties of sedimentary rocks

Abstract A laboratory technique for the measurement of compressional and shear wave velocities and attenuations (quality factors) of sedimentary rocks at pressures up to 70 MPa and at frequencies up to 1 MHz was published by Winkler and Plona in 1982. In the method the rock sample is enclosed between buffer rods. The arrival times and amplitudes of the signals reflected from its top and base are compared. A similar technique has been used for many years in the non-destructive testing of metals and plastics. This paper describes the use of a single-frequency pulsed sine wave for the velocity and attenuation measurements, in addition to the transient pulse used in the Schlumberger method. Measurements were made on samples with accurately known compressional and shear wave properties and on replicated rock samples. The results demonstrate that the determinations of velocities are accurate to ± 0.3%, and that the determinations of attenuation are accurate to ±0.1 dB/cm at 0.85 MHz.
Cloud condensation nuclei closure during the International Consortium for Atmospheric Research on Transport and Transformation 2004 campaign: Effects of size-resolved composition

(1) Measurements of cloud condensation nuclei (CCN), aerosol size distribution and chemical composition were obtained at the UNH-AIRMAP Thompson Farms site, during the ICARTT 2004 campaign. This work focuses on the analysis of a week of measurements, during which semiurban and continental air were sampled. Predictions of CCN concentrations were carried out using ''simple'' Kohler theory; the predictions are subsequently compared with CCN measurements at 0.2%, 0.3%, 0.37%, 0.5% and 0.6% supersaturation. Using size-averaged chemical composition, CCN are substantially overpredicted (by 35.8 ± 28.5%). Introducing size-dependent chemical composition substantially improved closure (average error 17.4 ± 27.0%). CCN closure is worse during periods of changing wind direction, suggesting that the introduction of aerosol mixing state into CCN predictions may sometimes be required. Finally, knowledge of the soluble salt fraction is sufficient for description of CCN activity. Citation: Medina, J., A. Nenes, R. -E. P. Sotiropoulou, L. D. Cottrell, L. D. Ziemba, P. J. Beckman, and R. J. Griffin (2007), Cloud condensation nuclei closure during the International Consortium for Atmospheric Research on Transport and Transformation 2004 campaign: Effects of size-resolved composition, J. Geophys. Res., 112, D10S31, doi:10.1029/2006JD007588.