DSD/WBL-consistent JWL equations of state for EDC35

NASA Astrophysics Data System (ADS)

Hodgson, Alexander N.; Handley, Caroline Angela

2012-03-01

The Detonation Shock Dynamics (DSD) model allows the calculation of curvature-dependent detonation propagation. It is of particular use when applied to insensitive high explosives, such as EDC35, since they have a greater non-ideal behaviour. The DSD model is used in conjunction with experimental cylinder test data to obtain the JWL Equation of State (EOS) for EDC35. Adjustment of parameters in the JWL equation changes the expansion profile of the cylinder wall in hydrocode simulations. The parameters are iterated until the best match can be made between simulation and experiment. Previous DSD models used at AWE have no mechanism to adjust the chemical energy release to match the detonation conditions. Two JWL calibrations are performed using the DSD model, with and without Hetherington's energy release model (these proceedings). Also in use is a newly-calibrated detonation speed-curvature relation.

Comparison between natural Rain drop size distributions and corresponding models near equilibrium state during warm rain

NASA Astrophysics Data System (ADS)

Barthes, Laurent; Mallet, Cécile

2010-05-01

Keywords: Rain Drop Size Distribution, Breakup, coalescence, disdrometer The study of the vertical evolution of raindrop size distributions (DSDs) during rainfall, from the freezing level isotherm to ground level, is a key to improving our understanding of the microphysics of rain. In numerous domains such as remote sensing, telecommunications, soil erosion, and the study of the rain's efficiency in 'washing' the atmosphere, the DSD plays an important role. Among the different processes affecting the evolution of DSD, breakup and coalescence are two of the most significant. Models of coalescence and breakup lead to equilibrium of the raindrop size distribution (DSD) after a fall through sufficient vertical height. At equilibrium, the DSD no longer evolves, and its shape is unique whatever the rain rate or LWC. This implies that the DSD is known, to within a multiplication constant. These models based on experimental measurements have been developed over the past 40 years. The Low and List (1982a,b) parameterization (hereinafter LL82) and the Greg M. McFarquhar (2004) model are both based on the same laboratory experiments, which lead to an equilibrium drop size distribution (EDSD) with two or three peaks, and an exponential tail with a slope of approximately Λ=65 cm-1. Numerous measurements using disdrometer collected in different climatic areas: Paris, France (Mars to October 2000), Iowa-City (April to October 2002), and Djougou (Benin June to September 2006) corresponding to 537 hours of rain period have shown that for high rain rates, close to a state of equilibrium, this slope lies between Λ=20 - 22 cm-1. This latter value is corroborated by others measurements found in the literature (Hu & Srivastava, 1995). Hu & Srivastava suggested that the Low and List parameterization may overestimate the effects of the breakup process. This hypothesis is in adequation with recent laboratory experiments (A.P. Barros 2008) in which the authors conclude that the number of fragments droplets produced when small drops and large drops collide is overestimate. As new parameterization of LL82 is not possible due to the lack of new sufficient large experimental dataset, we have simply tried in the present study to 'compensate' the problem previously mentioned by replacing the coalescence/breakup model proposed in LL82 by another one in which the breakup process is less dominant. In order to evaluate the relevance of this modification, some of the DSD parameters such as slope, mean volume diameter, and relation between moments are calculated, and comparisons with experimental DSD are made. Simulations at equilibrium lead to a DSD tail with a slope of 23 cm-1 and a mean volume diameter equal to 2.5 mm. These values are in good agreements with experimental data. Similarly, the linear relationship between No* and the rainfall rate is also in good agreement. In the last part, the modified parameterization is then used to study the evolution of an initially gamma-like DSD in a 1D vertical rain shaft. References Barros, A. P., O. P. Prat, P. Shrestha, F. Y. Testik, and L. F. Bliven, 2008. Revisiting Low and List (1982): evaluation of raindrop collision using laboratory observations and modeling. Journal of the Atmospheric Sciences. Vol. 65(9), pp. 2983-2993. Hu, Z., and R. C. Srivastava: 1995: Evolution of raindrop size distribution by coalescence, breakup, and evaporation: Theory and observations. J. Atmos. Sci., 52, 1761-1783. Low, T. B. and R. List, 1982a: Collision, coalescence, and breakup of raindrops. Part I: Experimentally established coalescence efficiencies and fragment size distributions in breakup. J. Atmos. Sci., 39, 1591-1606. ___ 1982b: Collision, coalescence, and breakup of raindrops. Part II: Parameterization of fragment size distributions. J. Atmos. Sci., 39, 1607-1618. McFarquhar, G. M, 2004: A new representation of collision-induced breakup of raindrops and its implications for the shapes of raindrop size distributions, J. Atmos. Sci., 61(7), 777-794.

Hormonal evaluation in relation to phenotype and genotype in 286 patients with a disorder of sex development from Indonesia.

PubMed

Juniarto, A Zulfa; van der Zwan, Yvonne G; Santosa, Ardy; Ariani, Mahayu Dewi; Eggers, Stefanie; Hersmus, Remko; Themmen, Axel P N; Bruggenwirth, Hennie T; Wolffenbuttel, Katja P; Sinclair, Andrew; White, Stefan J; Looijenga, Leendert H J; de Jong, Frank H; Faradz, Sultana M H; Drop, Stenvert L S

2016-08-01

The objective of this study was to determine the aetiological spectrum of disorders of sex development (DSD) in a large cohort of underprivileged and undiagnosed patients from Indonesia. A total of 286 patients with atypical external and/or internal genitalia were evaluated using clinical, hormonal, molecular genetic and histological parameters. The age (years) at presentation was 0-0·5 in 41 (14·3%), >0·5-12 in 181 (63·3%) and >12 in 64 cases (22·4%). 46,XY DSD was most common (68·2%, n = 195), 46,XX DSD was found in 23·4% (n = 67) and sex chromosomal DSD in 8·4% (n = 24). In 61·2% of 46,XX DSD patients, 17·9% of 46,XY DSD patients and all sex chromosome DSD patients (29·4% in total), a final diagnosis was reached based on genetic or histological gonadal tissue evaluation. 17-hydroxyprogesterone and androstenedione levels were the most distinctive parameters in 46,XX DSD patients. In 46,XY DSD, diagnostic groups were identified based on the external masculinization score: androgen action disorder (AAD), unknown male undermasculinization (UMU), and gonadal dysgenesis (GD). LH, FSH and testosterone levels were most informative especially in the older age group. HCG tests were of no additional value as no patients with androgen synthesis disorders were found. Hormonal profiles of patients with sex chromosome DSD and a Y-chromosome sequence containing karyotype showed high levels of LH and FSH, and low levels of AMH, inhibin B and testosterone compared with the normal male range. Gene mutations were found in all patients with CAH, but in only 24·5% and 1·8% of patients with AAD and UMU. In 32% of 46,XY GD patients, copy number variants of different genes were found. A stepwise diagnostic approach led to a molecularly or histologically proven final diagnosis in 29·4% of the patients. The most informative parameters were serum levels of 17-hydroxyprogesterone and androstenedione in 46,XX DSD patients, and serum LH, FSH and testosterone levels in 46,XY DSD patients. © 2016 John Wiley & Sons Ltd.

The Modelled Raindrop Size Distribution of Skudai, Peninsular Malaysia, Using Exponential and Lognormal Distributions

PubMed Central

Yakubu, Mahadi Lawan; Yusop, Zulkifli; Yusof, Fadhilah

2014-01-01

This paper presents the modelled raindrop size parameters in Skudai region of the Johor Bahru, western Malaysia. Presently, there is no model to forecast the characteristics of DSD in Malaysia, and this has an underpinning implication on wet weather pollution predictions. The climate of Skudai exhibits local variability in regional scale. This study established five different parametric expressions describing the rain rate of Skudai; these models are idiosyncratic to the climate of the region. Sophisticated equipment that converts sound to a relevant raindrop diameter is often too expensive and its cost sometimes overrides its attractiveness. In this study, a physical low-cost method was used to record the DSD of the study area. The Kaplan-Meier method was used to test the aptness of the data to exponential and lognormal distributions, which were subsequently used to formulate the parameterisation of the distributions. This research abrogates the concept of exclusive occurrence of convective storm in tropical regions and presented a new insight into their concurrence appearance. PMID:25126597

Illustration of microphysical processes in Amazonian deep convective clouds in the gamma phase space: introduction and potential applications

NASA Astrophysics Data System (ADS)

Cecchini, Micael A.; Machado, Luiz A. T.; Wendisch, Manfred; Costa, Anja; Krämer, Martina; Andreae, Meinrat O.; Afchine, Armin; Albrecht, Rachel I.; Artaxo, Paulo; Borrmann, Stephan; Fütterer, Daniel; Klimach, Thomas; Mahnke, Christoph; Martin, Scot T.; Minikin, Andreas; Molleker, Sergej; Pardo, Lianet H.; Pöhlker, Christopher; Pöhlker, Mira L.; Pöschl, Ulrich; Rosenfeld, Daniel; Weinzierl, Bernadett

2017-12-01

The behavior of tropical clouds remains a major open scientific question, resulting in poor representation by models. One challenge is to realistically reproduce cloud droplet size distributions (DSDs) and their evolution over time and space. Many applications, not limited to models, use the gamma function to represent DSDs. However, even though the statistical characteristics of the gamma parameters have been widely studied, there is almost no study dedicated to understanding the phase space of this function and the associated physics. This phase space can be defined by the three parameters that define the DSD intercept, shape, and curvature. Gamma phase space may provide a common framework for parameterizations and intercomparisons. Here, we introduce the phase space approach and its characteristics, focusing on warm-phase microphysical cloud properties and the transition to the mixed-phase layer. We show that trajectories in this phase space can represent DSD evolution and can be related to growth processes. Condensational and collisional growth may be interpreted as pseudo-forces that induce displacements in opposite directions within the phase space. The actually observed movements in the phase space are a result of the combination of such pseudo-forces. Additionally, aerosol effects can be evaluated given their significant impact on DSDs. The DSDs associated with liquid droplets that favor cloud glaciation can be delimited in the phase space, which can help models to adequately predict the transition to the mixed phase. We also consider possible ways to constrain the DSD in two-moment bulk microphysics schemes, in which the relative dispersion parameter of the DSD can play a significant role. Overall, the gamma phase space approach can be an invaluable tool for studying cloud microphysical evolution and can be readily applied in many scenarios that rely on gamma DSDs.

On Study of Air/Space-borne Dual-Wavelength Radar for Estimates of Rain Profiles

NASA Technical Reports Server (NTRS)

Liao, Liang; Meneghini, Robert

2004-01-01

In this study, a framework is discussed to apply air/space-borne dual-wavelength radar for the estimation of characteristic parameters of hydrometeors. The focus of our study is on the Global Precipitation Measurements (GPM) precipitation radar, a dual-wavelength radar that operates at Ku (13.8 GHz) and Ka (35 GHz) bands. As the droplet size distributions (DSD) of rain are expressed as the Gamma function, a procedure is described to derive the median volume diameter (D(sub 0)) and particle number concentration (N(sub T)) of rain. The correspondences of an important quantity of dual-wavelength radar, defined as deferential frequency ratio (DFR), to the D(sub 0) in the melting region are given as a function of the distance from the 0 C isotherm. A self-consistent iterative algorithm that shows a promising to account for rain attenuation of radar and infer the DSD without use of surface reference technique (SRT) is examined by applying it to the apparent radar reflectivity profiles simulated from the DSD model and then comparing the estimates with the model (true) results. For light to moderate rain the self-consistent rain profiling approach converges to unique and correct solutions only if the same shape factors of Gamma functions are used both to generate and retrieve the rain profiles, but does not converges to the true solutions if the DSD form is not chosen correctly. To further examine the dual-wavelength techniques, the self-consistent algorithm, along with forward and backward rain profiling algorithms, is then applied to the measurements taken from the 2nd generation Precipitation Radar (PR-2) built by Jet Propulsion Laboratory. It is found that rain profiles estimated from the forward and backward approaches are not sensitive to shape factor of DSD Gamma distribution, but the self-consistent method is.

Detonation Shock Dynamics (DSD) Calibration for LX-17

DOE Office of Scientific and Technical Information (OSTI.GOV)

Aslam, Tariq D

2012-04-24

The goal of this report is to summarize the results of a Detonation shock dynamics (DSD) calibration for the explosive LX-17. Considering that LX-17 is very similar to PBX 9502 (LX-17 is 92.5% TATB with 7.5% Kel-F 800 binder, while PBX 9502 is 95% TATB with 5% Kel-F 800 binder), we proceed with the analysis assuming many of the DSD constants are the same. We only change the parameters D{sub CJ}, B and {bar C}{sub 6} ({bar C}{sub 6} controls the how D{sub CJ} changes with pressing density). The parameters D{sub CJ} and {bar C}{sub 6} were given by Joshmore » Coe and Sam Shaw's EOS. So, only B was optimized in fitting all the calibration data. This report first discusses some general DSD background, followed by a presentation of the available dataset to perform the calibration, and finally gives the results of the calibration and draws some conclusions. A DSD calibration of LX-17 has been conducted using the existing diameter effect data and shock shape records. The new DSD fit is based off the current PBX 9502 calibration and takes into account the effect of pressing density. Utilizing the PBX 9502 calibration, the effects of initial temperature can also be taken into account.« less

DSD-Consistent JWL Equations of State for EDC35

NASA Astrophysics Data System (ADS)

Hodgson, Alexander

2011-06-01

The Detonation Shock Dynamics model (DSD) allows the calculation of curvature-dependent detonation propagation. It is of particular use when applied to insensitive high explosives, such as EDC35, since they have a greater non-ideal behaviour. The DSD model has been used in conjunction with an experimental cylinder test to obtain the JWL Equation of State (EoS) for EDC35. Adjustment of parameters in the JWL equation changes the expansion profile of the simulated wall expansion. The parameters are iterated until the best match can be made between simulation and experiment. Previous DSD models used at AWE have no energy release mechanism to adjust the release of chemical energy to match the detonation conditions. Two JWL calibrations are performed using the DSD model, with and without Hetherington's energy release model (these proceedings). Also in use is a newly-calibrated detonation speed-curvature relation that is much closer, compared to previous calibrations, to Bdzil's equivalent for PBX9502. This paper discusses the possible improvements that this approach makes to the EDC35 JWL EoS.

Relationships between the Raindrop Size Distribution and Properties of the Environment and Clouds Inferred from TRMM

NASA Technical Reports Server (NTRS)

Munchak, Stephen Joseph; Kummerow, Christian; Elsaesser, Gregory

2013-01-01

Variability in the raindrop sized distribution (DSD) has long been recognized as a source of uncertainty in relationships between radar reflectivity Z and rain rate R. In this study, we analyze DSD retrievals from two years of data gathered by the Tropical Rainfall Measuring Mission (TRMM) satellite and processed with a combined radar-radiometer retrieval algorithm over the global oceans equatorward of 35?. Numerous variables describing properties of each reflectivity profile, large-scale organization, and the background environment are examined for relationships to the reflectivity-normalized median drop diameter, epsilonDSD. In general, we find that higher freezing levels and relative humidities are associated with smaller epsilonDSD. Within a given environment, the mesoscale organization of precipitation and the vertical profile of reflectivity are associated with DSD characteristics. In the tropics, the smallest epsilonDSD values are found in large but shallow convective systems, where warm rain formation processes are thought to be predominant, whereas larger sizes are found in the stratiform regions of organized deep convection. In the extratropics, the largest epsilonDSD values are found in the scattered convection that occurs when cold, dry continental air moves over the much warmer ocean after the passage of a cold front. The geographical distribution of the retrieved DSDs is consistent with many of the observed regional Z-R relationships found in the literature as well as discrepancies between the TRMM radar-only and radiometer-only precipitation products. In particular, mid-latitude and tropical regions near land tend to have larger drops for a given reflectivity, whereas the smallest drops are found in the eastern Pacific Intertropical Convergence Zone.

Frequency and distribution of primary site among gender minority cancer patients: An analysis of U.S. national surveillance data.

PubMed

Nash, Rebecca; Ward, Kevin C; Jemal, Ahmedin; Sandberg, David E; Tangpricha, Vin; Goodman, Michael

2018-03-09

Transgender people and persons with disorders of sex development (DSD) are two separate categories of gender minorities, each characterized by unique cancer risk factors. Although cancer registry data typically include only two categories of sex, registrars have the option of indicating that a patient is transgender or has a DSD. Data for primary cancer cases in 46 states and the District of Columbia were obtained from the North American Association of Central Cancer Registries (NAACCR) database for the period 1995-2013. The distributions of primary sites and categories of cancers with shared risk factors were examined separately for transgender and DSD patients and compared to the corresponding distributions in male and female cancer patients. Proportional incidence ratios were calculated by dividing the number of observed cases by the number of expected cases. Expected cases were calculated based on the age- and year of diagnosis-specific proportions of cases in each cancer category observed among male and female patients. Transgender patients have significantly elevated proportional incidence ratios (95% confidence intervals) for viral infection induced cancers compared to either males (2.3; 2.0-2.7) or females (3.3; 2.8-3.7). Adult DSD cancer patients have a similar distribution of primary sites compared to male or female patients but DSD children with cancer have ten times more cases of testicular malignancies than expected (95% confidence interval: 4.7-20). The proportions of certain primary sites and categories of malignancies among transgender and DSD cancer patients are different from the proportions observed for male or female patients. Copyright © 2018 Elsevier Ltd. All rights reserved.

Microphysical Analysis using Airborne 2-D Cloud and Precipitation Imaging Probe Data

NASA Astrophysics Data System (ADS)

Guy, N.; Jorgensen, D.; Witte, M.; Chuang, P. Y.; Black, R. A.

2013-12-01

The NOAA P-3 instrumented aircraft provided in-situ cloud and precipitation microphysical observations during the DYNAMO (Dynamics of the Madden-Julian Oscillation) field experiment. The Particle Measuring System 2D cloud (2D-C) and precipitation (2D-P) probes collected data for particles between 12.5 μm - 1.55 mm (25 μm resolution) and 100 μm - 6.2 mm (100 μm resolution), respectively. Spectra from each instrument were combined to provide a broad distribution of precipitation particle sizes. The 'method of moments' technique was used to analyze drop size distribution (DSD) spectra, which were modeled by fitting a three-parameter (slope, shape, and intercept) gamma distribution to the spectra. The characteristic shape of the mean spectrum compares to previous maritime measurements. DSD variability will be presented with respect to the temporal evolution of cloud populations during a Madden-Julian Oscillation (MJO) event, as well as in-situ aircraft vertical wind velocity measurements. Using the third and sixth moments, rainfall rate (R) and equivalent radar reflectivity factor (Z), respectively, were computed for each DSD. Linear regression was applied to establish a Z-R relationship for the data for the estimation of precipitation. The study indicated unique characteristics of microphysical processes for this region. These results are important to continue to define the cloud population characteristics in the climatological MJO region. Improved representation of the cloud characteristics on the microphysical scale will serve as a check to model parameterizations, helping to improve numerical simulations.

Linkage between canopy water storage and drop size distributions of leaf drips

NASA Astrophysics Data System (ADS)

Nanko, Kazuki; Watanabe, Ai; Hotta, Norifumi; Suzuki, Masakazu

2013-04-01

Differences in drop size distribution (DSD) of leaf drips among tree species have been estimated and physically interpreted to clarify the leaf drip generation process. Leaf drip generation experiments for nine species were conducted in an indoor location without foliage vibration using an automatic mist spray. Broad-leaved species produced a similar DSD among species whose leaves had a matte surface and a second similar DSD among species whose leaves had a coated surface. The matte broad leaves produced a larger and wider range of DSDs than the coated broad leaves. Coated coniferous needles had a wider range of DSDs than the coated broad leaves and different DSDs were observed for different species. The species with shorter dense needles generated a larger DSD. The leaf drip diameter was calculated through the estimation of a state of equilibrium of a hanging drop on the leaves based on physical theory. The calculations indicated that the maximum diameter of leaf drips was determined by the contact angle, and the range of DSDs was determined by the variation in contact length and the contact diameter at the hanging points. The results revealed that leaf drip DSD changed due to variations in leaf hydrophobicity, leaf roughness, leaf geometry and leaf inclination among the different tree species. This study allows the modelization of throughfall DSD. Furthermore, it indicates the possibility of interpreting canopy water processes from canopy water storage to drainage through the contact angle and leaf drip DSD. The part of this study is published in Nanko et al. (2013, Agric. Forest. Meteorol. 169, 74-84).

A practical guide for evaluating gonadal germ cell tumor predisposition in differences of sex development.

PubMed

Pyle, Louise C; Nathanson, Katherine L

2017-06-01

Differences of Sex Development (DSD) includes a wide spectrum of etiologies and phenotypes. A subset of individuals with DSDs are predisposed to gonadal germ cell tumor (GCT). In this setting, GCT risk varies widely, depending on the DSD molecular etiology and penetrance. Prognostication based on molecular diagnosis remains challenging, as natural history data specific to recently identified molecular causes of DSD is lacking. In this review, we provide a framework for the clinical geneticist to consider GCT tumor risk in the patient with DSD. We discuss germ cell development and etiology of GCT growth, along with parameters to consider when recommending prophylactic gonadectomy including fertility, hormonal output, and malignant GTC treatment outcomes. Shortly after the 2006 reorganization of DSD nomenclature, literature reviews of natural history publications stratified GCT risk by a chromosomal, pathological, and hormonal taxonomy. Our 2017 literature review reveals a larger body of publications. However, the broad DSD GCT risk stratification within the 2006 taxonomy remains stable. We discuss precise GCT risk assessment for specific diagnoses, including androgen insensitivity, Smith-Lemli-Opitz, and 46,XY with MAP3K1 mutations and gonadal dysgenesis, as examples. We also examine the GCT risk in non-DSD syndromes, in addition to the cancer risks in DSD patients with dimorphic gonads and genitalia. This review is intended to provide a nuanced assessment of relative germ cell tumor risk in the DSD patient, including modern precise molecular diagnosis, for use by the clinical geneticist. © 2017 Wiley Periodicals, Inc.

Consistent Measurement and Physical Character of the DSD: Disdrometer to Satellite

NASA Technical Reports Server (NTRS)

Petersen, Walt; Thurai, Merhala; Gatlin, Patrick; Tokay, Ali; Morris, Bob; Wolff, David; Pippitt, Jason; Marks, David; Berendes, Todd

2017-01-01

Objective: Validate GPM (Global Precipitation Measurement) Drop Size Distribution Retrievals: Drop size distributions (DSD) are critical to GPM DPR (Dual-frequency Precipitation Radar)-based rainfall retrievals; NASA GPM Science Requirements stipulate that the GPM Core observatory radar estimation of D (sub m) (mean diameter) shall be within plus or minus 0.5 millimeters of GV (Ground Validation); GV translates disdrometer measurements to polarimetric radar-based DSD and precipitation type retrievals (e.g., convective vs. stratiform (C/S)) for coincident match-up to GPM core overpasses; How well do we meet the requirement across product versions, rain types (e.g., C/S partitioning), and rain rates (heavy, light) and is behavior physically and internally consistent?

Incidence, prevalence, diagnostic delay, morbidity, mortality and socioeconomic status in males with 46,XX disorders of sex development: a nationwide study.

PubMed

Berglund, A; Johannsen, T H; Stochholm, K; Aksglaede, L; Fedder, J; Viuff, M H; Main, K M; Gravholt, C H

2017-08-01

What is the epidemiology and trajectory of health and socioeconomic status in males with 46,XX disorders of sex development (DSD)? 46,XX DSD males had an increased overall morbidity compared to male background population controls, and the socioeconomic status was inferior on outcome parameters such as education and long-term income. 46,XX DSD males are rare and estimates of prevalence and incidence are limited. An increased morbidity and mortality as well as a negatively affected socioeconomic status are described in males with Klinefelter Syndrome. However, this has never been systematically studied in 46,XX DSD males. In this nationwide registry study including 44 males with a verified diagnosis of 46,XX DSD we aimed to estimate incidence, prevalence and diagnostic delay. Further, we aimed to study morbidity, mortality and socioeconomic outcome parameters using the Danish registries. The socioeconomic outcome parameters were education, income, retirement, parenthood and cohabitation. 46,XX DSD males were born during 1908-2012 and follow-up started at birth or at start of registration and ended in 2014. Potential cases (n = 69) were identified in the Danish Cytogenetic Central Registry and the diagnosis was verified by medical record evaluation (n = 44). A randomly selected age-matched control group of 100 males and 100 females per case was identified by Statistics Denmark. Among newborn males the prevalence of diagnosed 46,XX DSD males was 3.5-4.7 per 100 000. Median age at diagnosis was 17.0 years (range: 0.0-62.8). Overall morbidity was increased compared to male controls (hazard ratio [HR] = 2.4, 95% CI: 1.8-3.3) but not when excluding endocrine and urogenital diseases as well as congenital malformations (HR = 1.2, 95% CI: 0.8-1.6). Mortality was not increased (HR = 0.6, 95% CI: 0.2-2.5) compared to male controls. 46,XX DSD males had poorer education (HR = 0.1, 95% CI: 0.0-0.9) and fewer fatherhoods (HR = 0.4, 95% CI: 0.2-0.7) than male controls, and their income was reduced for the following age groups; 45-49 years: odds ratio [OR] = 0.4 (95% CI: 0.2-0.7); 50-54 years: OR = 0.1 (95% CI: 0.0-0.6). The study cohort is rather small, although it is large in comparison to other studies on 46,XX DSD males. Some 46,XX DSD males may have been excluded from the study owing to lack of data in medical records, making the diagnosis impossible to verify. As in all epidemiologic studies a risk of misclassification must be considered when interpreting the study results, and as the study included diagnosed 46,XX DSD males only, conclusions cannot be extended to non-diagnosed 46,XX DSD males. This study provides a new insight into trajectory of health and socioeconomic status of 46,XX DSD males. This study was funded by research grants from the Health Research Fund of Central Denmark Region, the A.P. Møller Foundation 'Fonden til Laegevidenskabens Fremme', the Lundbeck Foundation and the Novo Nordisk Foundation (NNF13OC0003234 and NNF15OC0016474). The authors have nothing to declare. N/A. © The Author 2017. Published by Oxford University Press on behalf of the European Society of Human Reproduction and Embryology. All rights reserved. For Permissions, please e-mail: journals.permissions@oup.com

Statistical Analysis of Instantaneous Frequency Scaling Factor as Derived From Optical Disdrometer Measurements At KQ Bands

NASA Technical Reports Server (NTRS)

Zemba, Michael; Nessel, James; Houts, Jacquelynne; Luini, Lorenzo; Riva, Carlo

2016-01-01

The rain rate data and statistics of a location are often used in conjunction with models to predict rain attenuation. However, the true attenuation is a function not only of rain rate, but also of the drop size distribution (DSD). Generally, models utilize an average drop size distribution (Laws and Parsons or Marshall and Palmer. However, individual rain events may deviate from these models significantly if their DSD is not well approximated by the average. Therefore, characterizing the relationship between the DSD and attenuation is valuable in improving modeled predictions of rain attenuation statistics. The DSD may also be used to derive the instantaneous frequency scaling factor and thus validate frequency scaling models. Since June of 2014, NASA Glenn Research Center (GRC) and the Politecnico di Milano (POLIMI) have jointly conducted a propagation study in Milan, Italy utilizing the 20 and 40 GHz beacon signals of the Alphasat TDP#5 Aldo Paraboni payload. The Ka- and Q-band beacon receivers provide a direct measurement of the signal attenuation while concurrent weather instrumentation provides measurements of the atmospheric conditions at the receiver. Among these instruments is a Thies Clima Laser Precipitation Monitor (optical disdrometer) which yields droplet size distributions (DSD); this DSD information can be used to derive a scaling factor that scales the measured 20 GHz data to expected 40 GHz attenuation. Given the capability to both predict and directly observe 40 GHz attenuation, this site is uniquely situated to assess and characterize such predictions. Previous work using this data has examined the relationship between the measured drop-size distribution and the measured attenuation of the link]. The focus of this paper now turns to a deeper analysis of the scaling factor, including the prediction error as a function of attenuation level, correlation between the scaling factor and the rain rate, and the temporal variability of the drop size distribution both within a given rain event and across different varieties of rain events. Index Terms-drop size distribution, frequency scaling, propagation losses, radiowave propagation.

Statistical Analysis of Instantaneous Frequency Scaling Factor as Derived From Optical Disdrometer Measurements At KQ Bands

NASA Technical Reports Server (NTRS)

Zemba, Michael; Nessel, James; Houts, Jacquelynne; Luini, Lorenzo; Riva, Carlo

2016-01-01

The rain rate data and statistics of a location are often used in conjunction with models to predict rain attenuation. However, the true attenuation is a function not only of rain rate, but also of the drop size distribution (DSD). Generally, models utilize an average drop size distribution (Laws and Parsons or Marshall and Palmer [1]). However, individual rain events may deviate from these models significantly if their DSD is not well approximated by the average. Therefore, characterizing the relationship between the DSD and attenuation is valuable in improving modeled predictions of rain attenuation statistics. The DSD may also be used to derive the instantaneous frequency scaling factor and thus validate frequency scaling models. Since June of 2014, NASA Glenn Research Center (GRC) and the Politecnico di Milano (POLIMI) have jointly conducted a propagation study in Milan, Italy utilizing the 20 and 40 GHz beacon signals of the Alphasat TDP#5 Aldo Paraboni payload. The Ka- and Q-band beacon receivers provide a direct measurement of the signal attenuation while concurrent weather instrumentation provides measurements of the atmospheric conditions at the receiver. Among these instruments is a Thies Clima Laser Precipitation Monitor (optical disdrometer) which yields droplet size distributions (DSD); this DSD information can be used to derive a scaling factor that scales the measured 20 GHz data to expected 40 GHz attenuation. Given the capability to both predict and directly observe 40 GHz attenuation, this site is uniquely situated to assess and characterize such predictions. Previous work using this data has examined the relationship between the measured drop-size distribution and the measured attenuation of the link [2]. The focus of this paper now turns to a deeper analysis of the scaling factor, including the prediction error as a function of attenuation level, correlation between the scaling factor and the rain rate, and the temporal variability of the drop size distribution both within a given rain event and across different varieties of rain events. Index Terms-drop size distribution, frequency scaling, propagation losses, radiowave propagation.

Drop Axis Ratio Distributions in Stratiform and Convective Rain

NASA Technical Reports Server (NTRS)

Thurai, M.; Bringi, V. N.; Petersen, W. A.; Schultz, C.

2010-01-01

A fully calibrated low profile 2D video disdrometer (2DVD) has been recording many different rainfall events in Northern Alabama (USA) since June 2007. An earlier publication reported drop shapes and axis ratio distributions determined for some of the events. For one of the cases examined, a noticeable shift in the 3.5 - 3.75 mm drop axis ratio distribution was noted. In this paper, we extend the earlier work by separating the 2DVD measurements into stratiform and convective rain. The separation is made possible by using the minute-by-minute drop size distribution (DSD) measured by the 2DVD. The 1-minute DSDs are fitted to a gamma distribution, and using a simple indexing technique which involves two of the fitted parameters, periods of convective and stratiform rain are separated for a given event. The output of the DSD indexing technique is qualitatively confirmed by comparing with simultaneous time series observations from a co-located UHF profiler which continuously records height profiles of reflectivity, Doppler mean and spectral width, all of which enable the identification of bright-band periods and, furthermore, periods of moderate and deep convection. Excellent consistency is found between the output of the DSD-based separation method and the profiler observations. Next, we utilize the output of DSD index-based separation method to flag the periods of severe convection for a given event. Drop axis ratios during the flagged periods are derived and compared with those during stratiform rain periods. Five cases have been considered. Axis ratio distributions do not show appreciable differences between stratiform and convective periods for four of the cases. The fifth case (the same case as reported earlier) shows a shift in the 3.5 - 3.75 mm drop axis ratios during a prolonged period of convection. The contoured shapes for these drops determined from the 2DVD camera data indicate the possibility of non-axisymmetric oscillations, compared with the contoured images for other events which fit well to our reference drop shapes. For all of above cases, observations from a C-band polarimetric radar - situated 15 km away are examined. The variations between the co-polar radar reflectivity and the differential reflectivity as well as the specific differential phase are compared with the 2DVD data based scattering calculations for the 5 events. The implications will be discussed.

Clinical review of 95 patients with 46,XX disorders of sex development based on the new Chicago classification.

PubMed

Öcal, Gönül; Berberoğlu, Merih; Sıklar, Zeynep; Aycan, Zehra; Hacıhamdioglu, Bülent; Savas Erdeve, Şenay; Çamtosun, Emine; Kocaay, Pınar; Ruhi, Hatice I; Kılıç, Birim G; Tukun, Ajlan

2015-02-01

The aim of our study was to determine the etiologic distribution of 46,XX disorder of sexual development (DSD) according to the new DSD classification system and to evaluate the clinical features of this DSD subgroup in our patient cohort. The evaluation criteria and clinical findings of 95 46,XX patients were described by clinical presentation, gonadal morphology, genital anatomy, associated dysmorphic features, presence during prenatal period with/without postnatal virilization, hormonal characteristics, and presence or absence of steroidogenic defects among 319 patients with DSD. Types and ratios of each presentation of our 95 patients with 46,XX DSD were as follows: 82 had androgen excess (86.3%): (74 had classical congenital adrenal hyperplasia, 2 had CAH variant possibility of P450-oxidoreductase gene defect), 6 had disorders of ovarian development (6.3%): (1 patient had gonadal dysgenesis with virilization at birth with bilateral streak gonad, 4 patients had complete gonadal dysgenesis, and 1 patient had ovotesticular DSD) and 7 had other 46,XX DSD. Two sisters, who had 46,XX complete gonadal dysgenesis,were diagnosed with Perrault Syndrome with ovarian failure due to streak gonads and associated with sensorineural deafness. 46,XX DSD are usually derived from intrauterine virilization and CAH is the most common cause of 46,XX DSD due to fetal androgen exposure. Copyright © 2015 North American Society for Pediatric and Adolescent Gynecology. Published by Elsevier Inc. All rights reserved.

The active structure of the Dead Sea depression

NASA Astrophysics Data System (ADS)

Shamir, G.

2003-04-01

The ~220km long gravitational and structural Dead Sea Depression (DSD), situated along the southern section of the Dead Sea Transform (DST), is centered by the Dead Sea basin sensu strictu (DSB), which has been described since the 1960?s as a pull-apart basin over a presumed left-hand fault step. However, several observations, or their lack thereof, question this scheme, e.g. (i) It is not supported by recent seismological and geomorphic data; (ii) It does not explain the fault pattern and mixed sinistral and dextral offset along the DSB western boundary; (iii) It does not simply explain the presence of intense deformation outside the presumed fault step zone; (iv) It is inconsistent with the orientation of seismically active faults within the Dead Sea and Jericho Valley; (v); It is apparently inconsistent with the symmetrical structure of the DSD; (vi) The length of the DSB exceeds the total offset along the Dead Sea Transform, while its subsidence is about the age of the DST. Integration of newly acquired and analyzed data (high resolution and petroleum seismic reflection data, earthquake relocation and fault plane solutions) with previously published data (structural mapping, fracture orientation distribution, Bouguer anomaly maps, sinkhole distribution, geomorphic lineaments) now shows that the active upper crustal manifestation of the DSD is a broad shear zone dominated by internal fault systems oriented NNE and NNW. These fault systems are identified by earthquake activity, seismic reflection observations, alignment of recent sinkholes, and distribution of Bouguer anomaly gradients. Motion on the NNE system is normal-dextral, suggesting that counterclockwise rotation may have taken place within the shear zone. The overall sinistral motion between the Arabian and Israel-Sinai plates along the DSD is thus accommodated by distributed shear across the N-S extending DSD. The three-dimensionality of this motion at the DSD may be related to the rate of convergence between the two plates.

Variability of the raindrop size distribution at small spatial scales

NASA Astrophysics Data System (ADS)

Berne, A.; Jaffrain, J.

2010-12-01

Because of the interactions between atmospheric turbulence and cloud microphysics, the raindrop size distribution (DSD) is strongly variable in space and time. The spatial variability of the DSD at small spatial scales (below a few km) is not well documented and not well understood, mainly because of a lack of adequate measurements at the appropriate resolutions. A network of 16 disdrometers (Parsivels) has been designed and set up over EPFL campus in Lausanne, Switzerland. This network covers a typical operational weather radar pixel of 1x1 km2. The question of the significance of the variability of the DSD at such small scales is relevant for radar remote sensing of rainfall because the DSD is often assumed to be uniform within a radar sample volume and because the Z-R relationships used to convert the measured radar reflectivity Z into rain rate R are usually derived from point measurements. Thanks to the number of disdrometers, it was possible to quantify the spatial variability of the DSD at the radar pixel scale and to show that it can be significant. In this contribution, we show that the variability of the total drop concentration, of the median volume diameter and of the rain rate are significant, taking into account the sampling uncertainty associated with disdrometer measurements. The influence of this variability on the Z-R relationship can be non-negligible. Finally, the spatial structure of the DSD is quantified using a geostatistical tool, the variogram, and indicates high spatial correlation within a radar pixel.

Drop size distribution comparisons between Parsivel and 2-D video disdrometers

NASA Astrophysics Data System (ADS)

Thurai, M.; Petersen, W. A.; Tokay, A.; Schultz, C.; Gatlin, P.

2011-05-01

Measurements from a 2-D video disdrometer (2DVD) have been used for drop size distribution (DSD) comparisons with co-located Parsivel measurements in Huntsville, Alabama. The comparisons were made in terms of the mass-weighted mean diameter, Dm, the standard deviation of the mass-spectrum, σm, and the rainfall rate, R, all based on 1-min DSD from the two instruments. Time series comparisons show close agreement in all three parameters for cases where R was less than 20 mm h-1. In four cases, discrepancies in all three parameters were seen for "heavy" events, with the Parsivel showing higher Dm, σm and R, when R reached high values (particularly above 30 mm h-1). Possible causes for the discrepancies include the presence of a small percentage of non-fully melted hydrometers, with higher than expected fall velocity and with very different axis ratios as compared with rain, indicating small hail or ice pellets or graupel. We also present here Parsivel-to-Parsivel comparisons as well as comparisons between two 2DVD instruments, namely a low-profile unit and the latest generation, "compact unit" which was installed at the same site in November 2009. The comparisons are included to assess the variability between the same types of instrument. Correlation coefficients and the fractional standard errors are compared.

Microwave Passive Ground-Based Retrievals of Cloud and Rain Liquid Water Path in Drizzling Clouds: Challenges and Possibilities

DOE PAGES

Cadeddu, Maria P.; Marchand, Roger; Orlandi, Emiliano; ...

2017-08-11

Satellite and ground-based microwave radiometers are routinely used for the retrieval of liquid water path (LWP) under all atmospheric conditions. The retrieval of water vapor and LWP from ground-based radiometers during rain has proved to be a difficult challenge for two principal reasons: the inadequacy of the nonscattering approximation in precipitating clouds and the deposition of rain drops on the instrument's radome. In this paper, we combine model computations and real ground-based, zenith-viewing passive microwave radiometer brightness temperature measurements to investigate how total, cloud, and rain LWP retrievals are affected by assumptions on the cloud drop size distribution (DSD) andmore » under which conditions a nonscattering approximation can be considered reasonably accurate. Results show that until the drop effective diameter is larger than similar to 200 mu m, a nonscattering approximation yields results that are still accurate at frequencies less than 90 GHz. For larger drop sizes, it is shown that higher microwave frequencies contain useful information that can be used to separate cloud and rain LWP provided that the vertical distribution of hydrometeors, as well as the DSD, is reasonably known. The choice of the DSD parameters becomes important to ensure retrievals that are consistent with the measurements. A physical retrieval is tested on a synthetic data set and is then used to retrieve total, cloud, and rain LWP from radiometric measurements during two drizzling cases at the atmospheric radiation measurement Eastern North Atlantic site.« less

Microwave Passive Ground-Based Retrievals of Cloud and Rain Liquid Water Path in Drizzling Clouds: Challenges and Possibilities

DOE Office of Scientific and Technical Information (OSTI.GOV)

Cadeddu, Maria P.; Marchand, Roger; Orlandi, Emiliano

Satellite and ground-based microwave radiometers are routinely used for the retrieval of liquid water path (LWP) under all atmospheric conditions. The retrieval of water vapor and LWP from ground-based radiometers during rain has proved to be a difficult challenge for two principal reasons: the inadequacy of the nonscattering approximation in precipitating clouds and the deposition of rain drops on the instrument's radome. In this paper, we combine model computations and real ground-based, zenith-viewing passive microwave radiometer brightness temperature measurements to investigate how total, cloud, and rain LWP retrievals are affected by assumptions on the cloud drop size distribution (DSD) andmore » under which conditions a nonscattering approximation can be considered reasonably accurate. Results show that until the drop effective diameter is larger than similar to 200 mu m, a nonscattering approximation yields results that are still accurate at frequencies less than 90 GHz. For larger drop sizes, it is shown that higher microwave frequencies contain useful information that can be used to separate cloud and rain LWP provided that the vertical distribution of hydrometeors, as well as the DSD, is reasonably known. The choice of the DSD parameters becomes important to ensure retrievals that are consistent with the measurements. A physical retrieval is tested on a synthetic data set and is then used to retrieve total, cloud, and rain LWP from radiometric measurements during two drizzling cases at the atmospheric radiation measurement Eastern North Atlantic site.« less

An extension of the directed search domain algorithm to bilevel optimization

NASA Astrophysics Data System (ADS)

Wang, Kaiqiang; Utyuzhnikov, Sergey V.

2017-08-01

A method is developed for generating a well-distributed Pareto set for the upper level in bilevel multiobjective optimization. The approach is based on the Directed Search Domain (DSD) algorithm, which is a classical approach for generation of a quasi-evenly distributed Pareto set in multiobjective optimization. The approach contains a double-layer optimizer designed in a specific way under the framework of the DSD method. The double-layer optimizer is based on bilevel single-objective optimization and aims to find a unique optimal Pareto solution rather than generate the whole Pareto frontier on the lower level in order to improve the optimization efficiency. The proposed bilevel DSD approach is verified on several test cases, and a relevant comparison against another classical approach is made. It is shown that the approach can generate a quasi-evenly distributed Pareto set for the upper level with relatively low time consumption.

Report on Microgravity Experiments of Dynamic Surface Deformation Effects on Marangoni Instability in High-Prandtl-Number Liquid Bridges

NASA Astrophysics Data System (ADS)

Yano, Taishi; Nishino, Koichi; Matsumoto, Satoshi; Ueno, Ichiro; Komiya, Atsuki; Kamotani, Yasuhiro; Imaishi, Nobuyuki

2018-04-01

This paper reports an overview and some important results of microgravity experiments called Dynamic Surf, which have been conducted on board the International Space Station from 2013 to 2016. The present project mainly focuses on the relations between the Marangoni instability in a high-Prandtl-number (Pr= 67 and 112) liquid bridge and the dynamic free surface deformation (DSD) as well as the interfacial heat transfer. The dynamic free surface deformations of large-scale liquid bridges (say, for diameters greater than 10 mm) are measured with good accuracy by an optical imaging technique. It is found that there are two causes of the dynamic free surface deformation in the present study: the first is the time-dependent flow behavior inside the liquid bridge due to the Marangoni instability, and the second is the external disturbance due to the residual acceleration of gravity, i.e., g-jitter. The axial distributions of DSD along the free surface are measured for several conditions. The critical parameters for the onset of oscillatory Marangoni convection are also measured for various aspect ratios (i.e., relative height to the diameter) of the liquid bridge and various thermal boundary conditions. The characteristics of DSD and the onset conditions of instability are discussed in this paper.

Interdisciplinary care in disorders/differences of sex development (DSD): The psychosocial component of the DSD-Translational research network.

PubMed

Sandberg, David E; Gardner, Melissa; Callens, Nina; Mazur, Tom

2017-06-01

Scientific discovery and clinical management strategies for Disorders/Differences of Sex Development (DSD) have advanced in recent years. The 2006 Consensus Statement on Management of Intersex Disorders stated that a mental health component to care is integral to promote positive adaptation, yet the parameters of this element have not been described. The objective of this paper is threefold: to describe the psychosocial screening protocol adopted by the clinical centers of the DSD-Translational Research Network; to summarize psychosocial data collected at 1 of the 10 network sites; and to suggest how systematic behavioral health screenings can be employed to tailor care in DSD that results in better health and quality of life outcomes. Steps taken in developing the largely "noncategorical" screening protocol are described. These preliminary findings suggest that DSD, as one category of pediatric chronic conditions, is not associated with marked disturbances of psychosocial adaptation, either for the family or the child; however, screening frequently uncovered "risk factors" for individual families or patients that can potentially be addressed in the context of ongoing clinical care. Administration of the DSD-TRN psychosocial screening protocol was demonstrated to be feasible in the context of interdisciplinary team care and was acceptable to families on a longitudinal basis. The ultimate value of systematic screening will be demonstrated through a tailoring of psychosocial, medical and surgical services, based on this information that enhances the quality of patient and family-centered care and subsequent outcomes. © 2017 Wiley Periodicals, Inc.

A lack of association between polymorphisms of three positional candidate genes (CLASP2 , UBP1, and FBXL2) and canine disorder of sexual development (78,XX; SRY -negative).

PubMed

Salamon, Sylwia; Nowacka-Woszuk, Joanna; Szczerbal, Izabela; Dzimira, Stanisław; Nizanski, Wojciech; Ochota, Malgorzata; Switonski, Marek

2014-01-01

A disorder of sexual development (DSD) of dogs with a female karyotype, missing SRY gene, and presence of testicles or ovotestes is quite commonly diagnosed. It is suggested that this disorder is caused by an autosomal recessive mutation; however, other models of inheritance have not been definitely ruled out. In an earlier study it was hypothesized that the mutation may reside in a pericentromeric region of canine chromosome 23 (CFA23). Three positional candidate genes (CLASP2, UBP1, and FBXL2) were selected in silico in the search for polymorphisms in 7 testicular or ovotesticular XX DSD dogs, 8 XX DSD dogs of unknown cause (SRY-negative, with enlarged clitoris and unknown histology of gonads), and 29 normal female dogs as a control group. Among the 15 molecularly studied dogs with enlarged clitoris there were 3 new cases of testicular or ovotesticular XX DSD and 4 new cases of XX DSD with unknown cause (histology of the gonads unknown). Altogether, 11 (including 10 novel) polymorphisms in 5'- and 3'-flanking regions of the studied genes were found. The distribution analysis of these polymorphisms showed no association with the DSD phenotypes. Thus, it was concluded that the presence of the causative mutation for testicular or ovotesticular XX DSD in the pericentromeric region of CFA23 is unlikely. © 2014 S. Karger AG, Basel.

Impact of the surface wind flow on precipitation characteristics over the southern Himalayas: GPM observations

NASA Astrophysics Data System (ADS)

Zhang, Aoqi; Fu, Yunfei; Chen, Yilun; Liu, Guosheng; Zhang, Xiangdong

2018-04-01

The distribution and influence of precipitation over the southern Himalayas have been investigated on regional and global scales. However, previous studies have been limited by the insufficient emphasis on the precipitation triggers or the lack of droplet size distribution (DSD) data. Here, precipitating systems were identified using Global Precipitation Mission dual-frequency radar data, and then categorized into five classes according to surface flow from the European Centre for Medium-Range Weather Forecast Interim data. The surface flow is introduced to indicate the precipitation triggers, which is validated in this study. Using case and statistical analysis, we show that the precipitating systems with different surface flow had different precipitation characteristics, including spatio-temporal features, reflectivity profile, DSD, and rainfall intensity. Furthermore, the results show that the source of the surface flow influences the intensity and DSD of precipitation. The terrain exerts different impacts on the precipitating systems of five categories, leading to various distributions of precipitation characteristics over the southern Himalayas. Our results suggest that the introduction of surface flow and DSD for precipitating systems provides insight into the complex precipitation of the southern Himalayas. The different characteristics of precipitating systems may be caused by the surface flow. Therefore, future study on the orographic precipitations should take account the impact of the surface flow and its relevant dynamic mechanism.

Interdisciplinary Care in Disorders/Differences of Sex Development (DSD): The Psychosocial Component of the DSD – Translational Research Network

PubMed Central

Sandberg, David E.; Gardner, Melissa; Callens, Nina; Mazur, Tom

2017-01-01

Scientific discovery and clinical management strategies for Disorders/Differences of Sex Development (DSD) have advanced in recent years. The 2006 Consensus Statement on Management of Intersex Disorders stated that a mental health component to care is integral to promote positive adaptation, yet the parameters of this element have not been described. The objective of this paper is three-fold: to describe the psychosocial screening protocol adopted by the clinical centers of the DSD-Translational Research Network; to summarize psychosocial data collected at one of the 10 network sites; and to suggest how systematic behavioral health screenings can be employed to tailor care in DSD that results in better health and quality of life outcomes. Steps taken in developing the largely “noncategorical” screening protocol are described. These preliminary findings suggest that DSD, as one category of pediatric chronic conditions, is not associated with marked disturbances of psychosocial adaptation, either for the family or the child; however, screening frequently uncovered “risk factors” for individual families or patients that can potentially be addressed in the context of ongoing clinical care. Administration of the DSD-TRN psychosocial screening protocol was demonstrated to be feasible in the context of interdisciplinary team care and was acceptable to families on a longitudinal basis. The ultimate value of systematic screening will be demonstrated through a tailoring of psychosocial, medical and surgical services, based on this information that enhances the quality of patient and family-centered care and subsequent outcomes. PMID:28574671

Dynamic structural disorder in supported nanoscale catalysts

NASA Astrophysics Data System (ADS)

Rehr, J. J.; Vila, F. D.

2014-04-01

We investigate the origin and physical effects of "dynamic structural disorder" (DSD) in supported nano-scale catalysts. DSD refers to the intrinsic fluctuating, inhomogeneous structure of such nano-scale systems. In contrast to bulk materials, nano-scale systems exhibit substantial fluctuations in structure, charge, temperature, and other quantities, as well as large surface effects. The DSD is driven largely by the stochastic librational motion of the center of mass and fluxional bonding at the nanoparticle surface due to thermal coupling with the substrate. Our approach for calculating and understanding DSD is based on a combination of real-time density functional theory/molecular dynamics simulations, transient coupled-oscillator models, and statistical mechanics. This approach treats thermal and dynamic effects over multiple time-scales, and includes bond-stretching and -bending vibrations, and transient tethering to the substrate at longer ps time-scales. Potential effects on the catalytic properties of these clusters are briefly explored. Model calculations of molecule-cluster interactions and molecular dissociation reaction paths are presented in which the reactant molecules are adsorbed on the surface of dynamically sampled clusters. This model suggests that DSD can affect both the prefactors and distribution of energy barriers in reaction rates, and thus can significantly affect catalytic activity at the nano-scale.

Analytical challenges and regulatory requirements for nasal drug products in europe and the u.s.

PubMed

Trows, Sabrina; Wuchner, Klaus; Spycher, Rene; Steckel, Hartwig

2014-04-11

Nasal drug delivery can be assessed by a variety of means and regulatory agencies, e.g., the Food and Drug Administration (FDA) and the European Medicines Agency (EMA) have published a set of guidelines and regulations proposing in vitro test methods for the characterization of nasal drug products. This article gives a summary of the FDA and EMA requirements regarding the determination of droplet size distribution (DSD), plume geometry, spray pattern and shot weights of solution nasal sprays and discusses the analytical challenges that can occur when performing these measurements. In order to support findings from the literature, studies were performed using a standard nasal spray pump and aqueous model formulations. The aim was to identify possible method-, device- and formulation-dependent influencing factors. The literature review, as well as the results from the studies show that DSD, plume geometry and spray pattern are influenced by, e.g., the viscosity of the solution, the design of the device and the actuation parameters, particularly the stroke length, actuation velocity and actuation force. The dominant factor influencing shot weights, however, is the adjustment of the actuation parameters, especially stroke length and actuation velocity. Consequently, for routine measurements assuring, e.g., the quality of a solution nasal spray or, for in vitro bioequivalence studies, the critical parameters, have to be identified and considered in method development in order to obtain reproducible and reliable results.

Pseudo-radar algorithms with two extremely wet months of disdrometer data in the Paris area

NASA Astrophysics Data System (ADS)

Gires, A.; Tchiguirinskaia, I.; Schertzer, D.

2018-05-01

Disdrometer data collected during the two extremely wet months of May and June 2016 at the Ecole des Ponts ParisTech are used to get insights on radar algorithms. The rain rate and pseudo-radar quantities (horizontal and vertical reflectivity, specific differential phase shift) are all estimated over several durations with the help of drop size distributions (DSD) collected at 30 s time steps. The pseudo-radar quantities are defined with simplifying hypotheses, in particular on the DSD homogeneity. First it appears that the parameters of the standard radar relations Zh - R, R - Kdp and R - Zh - Zdr for these pseudo-radar quantities exhibit strong variability between events and even within an event. Second an innovative methodology that relies on checking the ability of a given algorithm to reproduce the good scale invariant multifractal behaviour (on scales 30 s - few h) observed on rainfall time series is implemented. In this framework, the classical hybrid model (Zh - R for low rain rates and R - Kdp for great ones) performs best, as well as the local estimates of the radar relations' parameters. However, we emphasise that due to the hypotheses on which they rely these observations cannot be straightforwardly extended to real radar quantities.

Experimental investigation of liquid-liquid system drop size distribution in Taylor-Couette flow and its application in the CFD simulation

NASA Astrophysics Data System (ADS)

Farzad, Reza; Puttinger, Stefan; Pirker, Stefan; Schneiderbauer, Simon

Liquid-liquid systems are widely used in the several industries such as food, pharmaceutical, cosmetic, chemical and petroleum. Drop size distribution (DSD) plays a key role as it strongly affects the overall mass and heat transfer in the liquid-liquid systems. To understand the underlying mechanisms single drop breakup experiments have been done by several researchers in the Taylor-Couette flow; however, most of those studies concentrate on the laminar flow regime and therefore, there is no sufficient amount of data in the case of in turbulent flows. The well-defined pattern of the Taylor-Couette flow enables the possibility to investigate DSD as a function of the local fluid dynamic properties, such as shear rate, which is in contrast to more complex devices such as stirred tank reactors. This paper deals with the experimental investigation of liquid-liquid DSD in Taylor-Couette flow. From high speed camera images we found a simple correlation for the Sauter mean diameter as a function of the local shear employing image processing. It is shown that this correlation holds for different oil-in-water emulsions. Finally, this empirical correlation for the DSD is used as an input data for a CFD simulation to compute the local breakup of individual droplets in a stirred tank reactor.

The relation between moisture and liquid water content in fog - an experimental approach

NASA Astrophysics Data System (ADS)

Gonser, S.; Griessbaum, F.; Chang, S.-C.; Chu, H.-S.; Hsia, Y.-J.; Klemm, O.

2010-07-01

In July 2009, microphysical measurements of orographic fog were performed above a montane cloud forest in north eastern Taiwan (Chilan mountain site). At this location, orographic fog appears almost every day. The goal of this work was to study the short term variations of the droplet size distribution (DSD), temperature, and relative humidity (RH), with a temporal resolution of 3 Hz. The relative humidity was calculated from precise temperature readings and absolute humidity (AH) measurements, recorded by a temperature sensor with an accuracy of 0.002°C (Model TR-1050, RBR Ltd.) and an infrared gas analyzer (Model Li-7500, LI-COR Biosciences), respectively. DSD's were measured by an optical droplet spectrometer (Model FM100, Droplet Measurement Technologies). It provides droplet spectra between 2 and 50 µm diameter. The liquid water content (LWC) of the fog was deduced from the measured DSD's. Data showed that orographic fog is composed of various air parcels of different size, RH and DSD. Three general types of fog parcels have been identified via the recorded DSD’s. DSD-type 1 is characterized by narrow spectra with maximum concentrations in the smallest size class and a continuous decrease towards greater diameters, DSD-type 2 represents slightly broader spectra with a plateau or second peak around 10 µm, and DSD-type 3 exhibits broad spectra with the droplet number concentrations peaking around 15 µm diameter. The appearance of the three different DSD-types is strongly related to RH and the general evolutional state of the fog. At the onset of a fog event, DSD’s are largely dominated by small droplets (DSD-type 1). Later on the spectra tend to become broader, RH shows relative low values, and DSD-type 3 is dominating the DSD’s. A statistical analysis of the characteristics of these parcels was performed and yielded large variability in persistence, RH, and LWC. DSD-type 2 showed the shortest durations and can, therefore, be regarded as a transitional state between the other two DSD-types. Further, the 3 Hz data revealed an inverse relation between RH and LWC. In principle, this finding can be explained by the diffusional growth theory for droplets containing soluble or insoluble materials. Droplets with greater diameters are able to exist at lower ambient RH’s than smaller droplets. If, on the other hand, the large observed variabilities of both LWC and RH can be explained through these considerations, remains unclear so far. Likely, local disequilibrium between the fog droplets and the bulk gas phase during turbulent transport is a cause for the observed effects. More analyses including fog droplet chemistry and dynamic microphysical modeling are required to further analyze these findings. To our knowledge, this is the first experimental field observation of the anti-correlation between RH and LWC in fog.

Analytical Challenges and Regulatory Requirements for Nasal Drug Products in Europe and the U.S.

PubMed Central

Trows, Sabrina; Wuchner, Klaus; Spycher, Rene; Steckel, Hartwig

2014-01-01

Nasal drug delivery can be assessed by a variety of means and regulatory agencies, e.g., the Food and Drug Administration (FDA) and the European Medicines Agency (EMA) have published a set of guidelines and regulations proposing in vitro test methods for the characterization of nasal drug products. This article gives a summary of the FDA and EMA requirements regarding the determination of droplet size distribution (DSD), plume geometry, spray pattern and shot weights of solution nasal sprays and discusses the analytical challenges that can occur when performing these measurements. In order to support findings from the literature, studies were performed using a standard nasal spray pump and aqueous model formulations. The aim was to identify possible method-, device- and formulation-dependent influencing factors. The literature review, as well as the results from the studies show that DSD, plume geometry and spray pattern are influenced by, e.g., the viscosity of the solution, the design of the device and the actuation parameters, particularly the stroke length, actuation velocity and actuation force. The dominant factor influencing shot weights, however, is the adjustment of the actuation parameters, especially stroke length and actuation velocity. Consequently, for routine measurements assuring, e.g., the quality of a solution nasal spray or, for in vitro bioequivalence studies, the critical parameters, have to be identified and considered in method development in order to obtain reproducible and reliable results. PMID:24732068

Measurements of DSD Second Moment Based on Laser Extinction

NASA Technical Reports Server (NTRS)

Lane, John E.; Jones, Linwood; Kasparis, Takis C.; Metzger, Philip

2013-01-01

Using a technique recently developed for estimating the density of surface dust dispersed during a rocket landing, measuring the extinction of a laser passing through rain (or dust in the rocket case) yields an estimate of the 2nd moment of the particle cloud, and rainfall drop size distribution (DSD) in the terrestrial meteorological case. With the exception of disdrometers, instruments that measure rainfall make in direct measurements of the DSD. Most common of these instruments are the rainfall rate gauge measuring the 1 1/3 th moment, (when using a D(exp 2/3) dependency on terminal velocity). Instruments that scatter microwaves off of hydrometeors, such as the WSR-880, vertical wind profilers, and microwave disdrometers, measure the 6th moment of the DSD. By projecting a laser onto a target, changes in brightness of the laser spot against the target background during rain, yield a measurement of the DSD 2nd moment, using the Beer-Lambert law. In order to detect the laser attenuation within the 8-bit resolution of most camera image arrays, a minimum path length is required, depending on the intensity of the rainfall rate. For moderate to heavy rainfall, a laser path length of 100 m is sufficient to measure variations in optical extinction using a digital camera. A photo-detector could replace the camera, for automated installations. In order to spatially correlate the 2nd moment measurements to a collocated disdrometer or tipping bucket, the laser's beam path can be reflected multiple times using mirrors to restrict the spatial extent of the measurement. In cases where a disdrometer is not available, complete DSD estimates can be produced by parametric fitting of DSD model to the 2nd moment data in conjunction with tipping bucket data. In cases where a disdrometer is collocated, the laser extinction technique may yield a significant improvement to insitu disdrometer validation and calibration strategies

Droplet Size Distributions as a function of rainy system type and Cloud Condensation Nuclei concentrations

NASA Astrophysics Data System (ADS)

Cecchini, Micael A.; Machado, Luiz A. T.; Artaxo, Paulo

2014-06-01

This work aims to study typical Droplet Size Distributions (DSDs) for different types of precipitation systems and Cloud Condensation Nuclei concentrations over the Vale do Paraíba region in southeastern Brazil. Numerous instruments were deployed during the CHUVA (Cloud processes of tHe main precipitation systems in Brazil: a contribUtion to cloud resolVing modeling and to the GPM) Project in Vale do Paraíba campaign, from November 22, 2011 through January 10, 2012. Measurements of CCN (Cloud Condensation Nuclei) and total particle concentrations, along with measurements of rain DSDs and standard atmospheric properties, including temperature, pressure and wind intensity and direction, were specifically made in this study. The measured DSDs were parameterized with a gamma function using the moment method. The three gamma parameters were disposed in a 3-dimensional space, and subclasses were classified using cluster analysis. Seven DSD categories were chosen to represent the different types of DSDs. The DSD classes were useful in characterizing precipitation events both individually and as a group of systems with similar properties. The rainfall regime classification system was employed to categorize rainy events as local convective rainfall, organized convection rainfall and stratiform rainfall. Furthermore, the frequencies of the seven DSD classes were associated to each type of rainy event. The rainfall categories were also employed to evaluate the impact of the CCN concentration on the DSDs. In the stratiform rain events, the polluted cases had a statistically significant increase in the total rain droplet concentrations (TDCs) compared to cleaner events. An average concentration increase from 668 cm- 3 to 2012 cm- 3 for CCN at 1% supersaturation was found to be associated with an increase of approximately 87 m- 3 in TDC for those events. For the local convection cases, polluted events presented a 10% higher mass weighted mean diameter (Dm) on average. For the organized convection events, no significant results were found.

Management of children with disorders of sex development: 20-year experience in southern Thailand.

PubMed

Jaruratanasirikul, Somchit; Engchaun, Vorapun

2014-05-01

Disorders of sex development (DSD) is a group of sexual differentiation disorders resulting in genital anomalies with defects in gonadal hormone synthesis and/or incomplete genital development. These conditions result in problems concerning the sex assignment of the child. This study aims to describe the clinical features, diagnosis and management of children with DSD in southern Thailand. The medical records of 117 pediatric patients diagnosed with DSD during the period of 1991-2011 were retrospectively reviewed. Disorders of sex development were categorized into 3 groups: sex chromosome abnormalities (53.0%), 46,XX DSD (29.9%) and 46,XY DSD (17.1%). The two most common etiologies of DSD were Turner syndrome (36.8%) and congenital adrenal hyperplasia (29.9%). Ambiguous genitalia/intersex was the main problem in 46,XX DSD (94%) and 46,XY DSD (100%). Sex reassignment was done in 5 children (4.3%) at age of 3-5 years: from male to female in 4 children (1 patient with congenital adrenal hyperplasia, 1 patient with 45,X/46,XY DSD, and 2 patients with 46,XX ovotesticular DSD) and from female to male in 1 patient with 46,XX ovotesticular DSD. Of the total 20 children with 46,XY DSD, 16 (80%) were raised as females. Management of DSD children has many aspects of concern. Sex assignment/reassignment depends on the phenotype (phallus size) of the external genitalia rather than the sex chromosome.

Effort Drivers Estimation for Brazilian Geographically Distributed Software Development

NASA Astrophysics Data System (ADS)

Almeida, Ana Carina M.; Souza, Renata; Aquino, Gibeon; Meira, Silvio

To meet the requirements of today’s fast paced markets, it is important to develop projects on time and with the minimum use of resources. A good estimate is the key to achieve this goal. Several companies have started to work with geographically distributed teams due to cost reduction and time-to-market. Some researchers indicate that this approach introduces new challenges, because the teams work in different time zones and have possible differences in culture and language. It is already known that the multisite development increases the software cycle time. Data from 15 DSD projects from 10 distinct companies were collected. The analysis shows drivers that impact significantly the total effort planned to develop systems using DSD approach in Brazil.

Spatial Correlation of Rain Drop Size Distribution from Polarimetric Radar and 2D-Video Disdrometers

NASA Technical Reports Server (NTRS)

Thurai, Merhala; Bringi, Viswanathan; Gatlin, Patrick N.; Wingo, Matt; Petersen, Walter Arthur; Carey, Lawrence D.

2011-01-01

Spatial correlations of two of the main rain drop-size distribution (DSD) parameters - namely the median-volume diameter (Do) and the normalized intercept parameter (Nw) - as well as rainfall rate (R) are determined from polarimetric radar measurements, with added information from 2D video disdrometer (2DVD) data. Two cases have been considered, (i) a widespread, long-duration rain event in Huntsville, Alabama, and (ii) an event with localized intense rain-cells within a convection line which occurred during the MC3E campaign. For the first case, data from a C-band polarimetric radar (ARMOR) were utilized, with two 2DVDs acting as ground-truth , both being located at the same site 15 km from the radar. The radar was operated in a special near-dwelling mode over the 2DVDs. In the second case, data from an S-band polarimetric radar (NPOL) data were utilized, with at least five 2DVDs located between 20 and 30 km from the radar. In both rain event cases, comparisons of Do, log10(Nw) and R were made between radar derived estimates and 2DVD-based measurements, and were found to be in good agreement, and in both cases, the radar data were subsequently used to determine the spatial correlations For the first case, the spatial decorrelation distance was found to be smallest for R (4.5 km), and largest fo Do (8.2 km). For log10(Nw) it was 7.2 km (Fig. 1). For the second case, the corresponding decorrelation distances were somewhat smaller but had a directional dependence. In Fig. 2, we show an example of Do comparisons between NPOL based estimates and 1-minute DSD based estimates from one of the five 2DVDs.

Using raindrop size distributions from different types of disdrometer to establish weather radar algorithms

NASA Astrophysics Data System (ADS)

Baldini, Luca; Adirosi, Elisa; Roberto, Nicoletta; Vulpiani, Gianfranco; Russo, Fabio; Napolitano, Francesco

2015-04-01

Radar precipitation retrieval uses several relationships that parameterize precipitation properties (like rainfall rate and liquid water content and attenuation (in case of radars at attenuated frequencies such as those at C- and X- band) as a function of combinations of radar measurements. The uncertainty in such relations highly affects the uncertainty precipitation and attenuation estimates. A commonly used method to derive such relationships is to apply regression methods to precipitation measurements and radar observables simulated from datasets of drop size distributions (DSD) using microphysical and electromagnetic assumptions. DSD datasets are determined both by theoretical considerations (i.e. based on the assumption that the radar always samples raindrops whose sizes follow a gamma distribution) or from experimental measurements collected throughout the years by disdrometers. In principle, using long-term disdrometer measurements provide parameterizations more representative of a specific climatology. However, instrumental errors, specific of a disdrometer, can affect the results. In this study, different weather radar algorithms resulting from DSDs collected by diverse types of disdrometers, namely 2D video disdrometer, first and second generation of OTT Parsivel laser disdrometer, and Thies Clima laser disdrometer, in the area of Rome (Italy) are presented and discussed to establish at what extent dual-polarization radar algorithms derived from experimental DSD datasets are influenced by the different error structure of the different type of disdrometers used to collect the data.

Psychosexual development in adolescents and adults with disorders of sex development--results from the German Clinical Evaluation Study.

PubMed

Jürgensen, Martina; Kleinemeier, Eva; Lux, Anke; Steensma, Thomas D; Cohen-Kettenis, Peggy T; Hiort, Olaf; Thyen, Ute; Köhler, Birgit

2013-11-01

Both biological and psychosocial factors influence psychosexual development. High levels of pre- and postnatal androgens lead to more male-typical behavior. So far, the influence of androgens on gender identity and sexual orientation is unclear. Disorders of sex development (DSDs) are heterogeneous genetic conditions with different levels of prenatal androgens resulting in variations of genital development. Through DSD, the role of the different factors, especially androgen exposure, on psychosexual development can be evaluated. The purpose of the study was to assess psychosexual development in adolescents and adults with different forms of DSD. For the examination of psychosexual development of 66 adolescents and 110 adults with DSD, the authors used the Utrecht Gender Dysphoria Scale for adolescents, the Questionnaire of Gender Identity for adults, and a condition-specific DSD study questionnaire. Individuals were analyzed in four subgroups reflecting the karyotype, absence/presence of androgen effects, and gender of rearing. Main outcome measures used were gender identity, friendships, love and sexual relationships, and sexual orientation in adolescents and adults with DSD. Individuals with DSD did not show increased gender dysphoria. However, partnership and sexuality were identified to be difficult areas of life. Both adolescents and adults with DSD reported fewer experiences regarding love or sexual relationships compared with unaffected individuals. Especially men with DSD and undervirilization and women with DSD and androgen effects less often had a love relationship. Adult women with DSD and androgen effects more frequently engaged in love and sexual relationships with individuals of the same gender compared with women without DSD. Individuals with DSD experience atypical hormonal influences (higher levels of androgens in girls/women and lower levels in androgens in boys/men); however, they did not show increased gender dysphoria in this study. However, partnership and sexual relationships are difficult areas of life for adolescents and adults with DSD. We recommend that individuals with DSD should get support from a multiprofessional team with competency in assessing and counseling issues regarding relationships and sexuality. Contact to other individuals with DSD can be helpful for nonprofessional support and exchange of experiences. © 2012 International Society for Sexual Medicine.

Rainwater content estimated using polarimetric radar parameters in the Heihe River Basin

NASA Astrophysics Data System (ADS)

Zhao, Guo; Chu, Rongzhong; Zhang, Tong; Jia, Wei

2013-02-01

The rainwater content of cold and arid regions has strong spatial and temporal heterogeneity. Representing rainwater content at high resolution can help us understand the characteristics of inland river basin water cycles and improve the prediction accuracy of hydrological models. Data were used from the Watershed Allied Telemetry Experimental Research (WATER) project of the Heihe River Basin, which is the second largest inland river basin in the arid regions of northwest China. We used raindrop size distributions to improve the rain water content estimation of meteorological radar and to obtain accurate rain water content data in this area. Subsequently, four estimation methods applied in the polarimetric radar were tested. The results of a non-linear regression method show that M(KDP, ZH, ZDR) has the highest accuracy for measuring rain water content. Finally, the formula for measuring the spatial rain water content was applied to a polarimetric radar with an X-band (714XDP). The influence of raindrop size distribution (DSD) on the formula M(KDP, ZH, ZDR) is lowest sensitivity, and it can be explained as follows. On the one hand, the horizontal and vertical front reflection cross sections of the radar are different, so KDP is proportional to the 3rd power of the raindrop diameter. On the other hand, the rear cross section of the radar is proportional to the sixth power of the raindrop diameter. The rainfall's spatial water content M is proportional to the 3rd power of the raindrop diameter, so the influence of the drop size distribution (DSD) on KDP is much smaller than that of ZH.

Statistical Analysis of Instantaneous Frequency Scaling Factor as Derived from Optical Disdrometer Measurements at VW Bands

NASA Technical Reports Server (NTRS)

Zemba, Michael; Nessel, James; Tarasenko, Nicholas; Lane, Steven

2017-01-01

Since October 2015, NASA Glenn Research Center (GRC) and the Air Force Research Laboratory (AFRL) have collaboratively operated an RF terrestrial link in Albuquerque, New Mexico to characterize atmospheric propagation phenomena at 72 and 84 GHz. The WV-band Terrestrial Link Experiment (WTLE) consists of coherent transmitters at each frequency on the crest of the Sandia Mountains and a corresponding pair of receivers in south Albuquerque. The beacon receivers provide a direct measurement of the link attenuation, while concurrent weather instrumentation provides a measurement of the atmospheric conditions.Among the available weather instruments is an optical disdrometer which yields an optical measurement of rain rate, as well as droplet size and velocity distributions (DSD, DVD). In particular, the DSD can be used to derive an instantaneous scaling factor (ISF) by which the measured data at one frequency can be scaled to another for example, scaling the 72 GHz to an expected 84 GHz timeseries. Given the availability of both the DSD prediction and the directly observed 84 GHz attenuation, WTLE is thus uniquely able assess DSD-derived instantaneous frequency scaling at the VW-bands. Previous work along these lines has investigated the DSD-derived ISF at Ka and Q-band (20 GHz to 40 GHz) using a satellite beacon receiver experiment in Milan, Italy [1-3]. This work will expand the investigation to terrestrial links in the VW-bands, where the frequency scaling factor is lower and where the link is also much more sensitive to attenuation by rain, clouds, and other atmospheric effects.

Statistical Analysis of Instantaneous Frequency Scaling Factor as Derived from Optical Disdrometer Measurements at V/W Bands

NASA Technical Reports Server (NTRS)

Zemba, Michael; Nessel, James; Tarasenko, Nicholas; Lane, Steven

2017-01-01

Since October 2015, NASA Glenn Research Center (GRC) and the Air Force Research Laboratory (AFRL) have collaboratively operated an RF terrestrial link in Albuquerque, New Mexico to characterize atmospheric propagation phenomena at 72 and 84 GHz. The W/V-band Terrestrial Link Experiment (WTLE) consists of coherent transmitters at each frequency on the crest of the Sandia Mountains and a corresponding pair of receivers in south Albuquerque. The beacon receivers provide a direct measurement of the link attenuation, while concurrent weather instrumentation provides a measurement of the atmospheric conditions. Among the available weather instruments is an optical disdrometer which yields an optical measurement of rain rate, as well as droplet size and velocity distributions (DSD, DVD). In particular, the DSD can be used to derive an instantaneous scaling factor (ISF) by which the measured data at one frequency can be scaled to another - for example, scaling the 72 GHz to an expected 84 GHz timeseries. Given the availability of both the DSD prediction and the directly observed 84 GHz attenuation, WTLE is thus uniquely able assess DSD-derived instantaneous frequency scaling at the V/W-bands. Previous work along these lines has investigated the DSD-derived ISF at Ka and Q-band (20 GHz to 40 GHz) using a satellite beacon receiver experiment in Milan, Italy. This work will expand the investigation to terrestrial links in the V/W-bands, where the frequency scaling factor is lower and where the link is also much more sensitive to attenuation by rain, clouds, and other atmospheric effects.

Gender identity shows a high correlation with Prader score in patients with disorders of sex development (DSD) presenting in mid childhood.

PubMed

Chowdhury, Tanvir K; Chowdhury, Md Zonaid; Mili, Fahmida; Hutson, John M; Banu, Tahmina

2014-05-01

In developing countries like Bangladesh, delayed presentation for disorders of sex development (DSD) is common, and provides some special problems for management. There remains significant controversy about appropriate sex assignment in this group. We aimed, therefore, to assess gender identity (GI) in 50 consecutive patients with DSD presenting to a referral centre in Chittagong, Bangladesh, and correlate it with Prader score, to see if the latter could be used to predict GI. A cross-sectional, case-control study of 50 consecutive children with DSD and 50 children with vascular anomalies was conducted in the Pediatric Surgical Clinic, Chittagong Medical College and Hospital. After informed consent, patients and controls provided oral answers to a GI questionnaire and had a detailed history and physical examination. Sex-typed activities were assessed by observations of a structured toy play and the child's selection of a toy to keep. Both patients and parents then completed the Child Game Participation Questionnaire. There were no differences in age (2-16 years, mean 8.74) between controls and DSD patients (11 46, XX DSD, 32 46, XY DSD, 4 MGD, 3 ovo-testicular DSD). Fifteen of the DSD patients (30 %) came from consanguineous marriages and only 2 of the control patients had consanguinity of their parents. For the 13-question GI interview, there was no overall difference between DSD cases and controls. For the 46, XX DSD subgroup, there was a significantly higher score (11.1 ± 7.1) compared with control girls (4.5 ± 4.7) (p < 0.05), while for DSD and control boys, there was a positive correlation with age and GI (p < 0.01). Prader score correlated with GI score in both control (r = 0.91) and DSD patients (r = 0.75) (p < 0.01), DSD girls played significantly less with girls' toys than controls (p < 0.01), but there was no differences for the boys. Composite scores on GI and gender-related behaviour correlated with Prader score for DSD patients (r = 0.61) (p < 0.01). This study supports the view that GI and gender-role behaviour should be assessed routinely in DSD patients presenting after the neonatal period, so that sex assignment is in accordance with behaviour. Prader scores showed a good correlation with GI and gender role behaviour.

Disorders of sex development in children in KwaZulu-Natal Durban South Africa: 20-year experience in a tertiary centre.

PubMed

Ganie, Yasmeen; Aldous, Colleen; Balakrishna, Yusentha; Wiersma, Rinus

2017-01-01

The objective of the study was to describe the prevalence, clinical characteristics and aetiological diagnosis in children with disorders of sex development (DSDs) presenting to a tertiary referral centre. This is a retrospective review of all cases of DSD referred to the Paediatric Endocrine Unit in Inkosi Albert Luthuli Central Hospital (IALCH) from January 1995 to December 2014. A total of 416 children (15.1%; CI: 13.8%-16.5%) were diagnosed with DSD. The aetiological diagnosis based on the current classification [Lawson Wilkins Paediatric Endocrine Society (LWPES) and European Society for Paediatric Endocrinology (ESPE)] was sex chromosome DSD in 9.5% (n=33), 46 XX DSD in 33% (n=114) and 46 XY DSD in 57.5% (n=199). The most common diagnoses in descending order were a disorder in androgen synthesis and action (not classified) in 53% (n=182), ovotesticular DSD in 22% (n=75) and congenital adrenal hyperplasia (CAH) in 10% (n=36). Overall the median age of presentation was 10 months (IQR: 1 month-4.5 years). There was a significant relationship (p<0.001) between the age of presentation and aetiological diagnosis. The majority (97%) of African patients had a diagnosis of 46 XX DSD. Prematurity was present in 47% (n=83) of children with 46 XY DSD (p<0.001). DSD is not an uncommon diagnosis in African patients in sub-Saharan Africa. The most common aetiological diagnosis is 46 XY DSD in androgen synthesis and action, followed by ovotesticular DSD. CAH is only the third most common disorder.

DOE Office of Scientific and Technical Information (OSTI.GOV)

Bdzil, John Bohdan

The full level-set function code, DSD3D, is fully described in LA-14336 (2007) [1]. This ASCI-supported, DSD code project was the last such LANL DSD code project that I was involved with before my retirement in 2007. My part in the project was to design and build the core DSD3D solver, which was to include a robust DSD boundary condition treatment. A robust boundary condition treatment was required, since for an important local “customer,” the only description of the explosives’ boundary was through volume fraction data. Given this requirement, the accuracy issues I had encountered with our “fast-tube,” narrowband, DSD2D solver,more » and the difficulty we had building an efficient MPI-parallel version of the narrowband DSD2D, I decided DSD3D should be built as a full level-set function code, using a totally local DSD boundary condition algorithm for the level-­set function, phi, which did not rely on the gradient of the level-­set function being one, |grad(phi)| = 1. The narrowband DSD2D solver was built on the assumption that |grad(phi)| could be driven to one, and near the boundaries of the explosive this condition was not being satisfied. Since the narrowband is typically no more than10*dx wide, narrowband methods are discrete methods with a fixed, non-­resolvable error, where the error is related to the thickness of the band: the narrower the band the larger the errors. Such a solution represents a discrete approximation to the true solution and does not limit to the solution of the underlying PDEs under grid resolution.The full level-­set function code, DSD3D, is fully described in LA-14336 (2007) [1]. This ASCI-­supported, DSD code project was the last such LANL DSD code project that I was involved with before my retirement in 2007. My part in the project was to design and build the core DSD3D solver, which was to include a robust DSD boundary condition treatment. A robust boundary condition treatment was required, since for an important local “customer,” the only description of the explosives’ boundary was through volume fraction data. Given this requirement, the accuracy issues I had encountered with our “fast-­tube,” narrowband, DSD2D solver, and the difficulty we had building an efficient MPI-parallel version of the narrowband DSD2D, I decided DSD3D should be built as a full level-­set function code, using a totally local DSD boundary condition algorithm for the level-­set function, phi, which did not rely on the gradient of the level-­set function being one, |grad(phi)| = 1. The narrowband DSD2D solver was built on the assumption that |grad(phi)| could be driven to one, and near the boundaries of the explosive this condition was not being satisfied. Since the narrowband is typically no more than10*dx wide, narrowband methods are discrete methods with a fixed, non-resolvable error, where the error is related to the thickness of the band: the narrower the band the larger the errors. Such a solution represents a discrete approximation to the true solution and does not limit to the solution of the underlying PDEs under grid resolution.« less

Occurrence of virulence-associated genes among Staphylococcus saprophyticus isolated from different sources.

PubMed

de Paiva-Santos, Weslley; de Sousa, Viviane Santos; Giambiagi-deMarval, Marcia

2018-03-28

Staphylococcus saprophyticus is an important pathogen responsible for community urinary tract infections (UTI). Besides composing the human microbiota, this species is widely distributed in the environment and the origins of this organism for human infection is not fully characterized. Although some virulence determinants are known, such as d-serine deaminase (DsdA), urease and cell-wall associated proteins, few studies investigated the distribution of virulence-associated genes and analyzed the pathogenic potential of S. saprophyticus strains from different sources. The aim of the present study was to detect the presence of S. saprophyticus genes encoding surface proteins UafA, Aas, Ssp, SdrI, SssF as well as the DsdA and urease enzymes. A total of 142 S. saprophyticus strains were obtained from four sources: UTI, colonization, water and food. It was found, in every tested strain, the presence of genes encoding the surface proteins UafA, Aas, Ssp and SssF and the DsdA and urease enzymes. In contrast, the gene encoding SdrI surface protein was not detected in any of the strains of S. saprophyticus. These results provide a better understanding of the characteristics of S. saprophyticus strains and suggest that isolates from non-human sources have a potential to colonize the urinary tract. Copyright © 2018 Elsevier Ltd. All rights reserved.

Disorders of Sex Development (DSD): Networking and Standardization Considerations.

PubMed

Sandberg, D E; Callens, N; Wisniewski, A B

2015-05-01

Syndromes resulting in Disorders of Sex Development (DSD) are individually rare. Historically, this fact has hindered both clinical research and the delivery of evidence-based care. Recognizing the need for advancement, members of European and North American medical societies produced policy statements, notably the Consensus Statement on Management of Intersex Disorders, which recognize that optimal healthcare in DSD requires multidisciplinary teams in conjunction with networking of treatment centers and continued development of patient registries. This paper summarizes efforts in Europe and the U.S. toward creating networks focused on expanding discovery and improving healthcare and quality of life outcomes in DSD. The objectives and function of registry-based networks (EuroDSD/I-DSD), learning collaboratives (DSD-net), clinical outcomes research (DSD-Life), and networking hybrids (DSD-TRN) are reviewed. Opportunities for, and barriers to standardization in research and care are highlighted in light of practical considerations, for example, limitations in reliably classifying anatomic phenotypes and gaps in behavioral health staffing resources. The role of patient-reported outcomes is considered, with emphasis on integrating patient perspectives, given findings of limited agreement in outcome ratings by healthcare providers and patients. Finally, the characteristics of clinical centers likely to deliver the highest quality outcomes are discussed. © Georg Thieme Verlag KG Stuttgart · New York.

Quality of life in a large cohort of adult Brazilian patients with 46,XX and 46,XY disorders of sex development from a single tertiary centre.

PubMed

Cassia Amaral, Rita; Inacio, Marlene; Brito, Vinicius N; Bachega, Tania A S S; Oliveira, Ari A; Domenice, Sorahia; Denes, Francisco T; Sircili, Maria Helena; Arnhold, Ivo J P; Madureira, Guiomar; Gomes, Larissa; Costa, Elaine M F; Mendonca, Berenice B

2015-02-01

Few studies have focused on the quality of life (QoL) of patients with disorders of sex development (DSD). Our aim was to evaluate QoL in DSD patients with defined diagnoses followed until adulthood in a single tertiary centre. Adult patients with DSD (56 patients with 46,XX DSD - 49 with female social sex and 7 with male social sex as well as 88 patients with 46,XY DSD - 54 with female social sex and 34 with male social sex). QoL using WHOQOL-Bref questionnaire. Both patients with 46,XX DSD and patients with 46,XY DSD had similar QoL scores on the WHOQOL-Bref, comparable to the scores of the Brazilian general population. The chronological age at the start of treatment was negatively and significantly associated with general QoL score. Patients with male social sex DSD had better scores on the psychological domain than patients with female social sex DSD, as found in the Brazilian general population. In addition, among the 46,XY DSD group, the male social sex patients had better QoL compared with the female social sex patients. There was a positive and significant correlation between sexual performance and general QoL, although it explained only 4% of the variability of the general QoL score. The most influencing variables were general health, positive feelings and spirituality, religion and personal beliefs, each of them contributing with 18% of the variability of the general QoL score. Our large cohort of adult patients with DSD, which was followed by a multidisciplinary team in a single tertiary centre, had good QoL in adulthood; in addition, late treatment compromised the QoL of patients with DSD, whereas sexual performance has little influence on QoL. © 2014 John Wiley & Sons Ltd.

WHO Dengue Case Classification 2009 and its usefulness in practice: an expert consensus in the Americas

PubMed Central

Horstick, Olaf; Martinez, Eric; Guzman, Maria Guadalupe; Martin, Jose Luis San; Ranzinger, Silvia Runge

2015-01-01

Introduction: In 2009, the new World Health Organization (WHO) dengue case classification – dengue/severe dengue (D/SD) – was introduced, replacing the 1997 WHO dengue case classification: dengue fever/dengue haemorrhagic fever/dengue shock syndrome (DF/DHF/DSS). Methods: A 2-day expert consensus meeting in La Habana/Cuba aimed to (1) share the experiences from Pan American Health Organization (PAHO) member states when applying D/SD, (2) present national and local data using D/SD, and (3) agree with the presented evidence on a list of recommendations for or against the use of D/SD for PAHO, and also globally. Results: Eight key questions were discussed, concluding: (1) D/SD is useful describing disease progression because it considers the dynamic nature of the disease, (2) D/SD helps defining dengue cases correctly for clinical studies, because it defines more precisely disease severity and allows evaluating dynamically the progression of cases, (3) D/SD describes correctly all clinical forms of severe dengue. Further standards need to be developed regionally, especially related to severe organ involvement, (4) D/SD allows for pathophysiological research identifying – in a sequential manner – the clinical manifestations of dengue related to pathophysiological events, (5) the warning signs help identifying early cases at risk of shock (children and adults), pathophysiology of the warning signs deserves further studies, (6) D/SD helps treating individual dengue cases and also the reorganization of health-care services for outbreak management, (7) D/SD helps diagnosing dengue, in presumptive diagnosis and follow-up of the disease, because of its high sensitivity and high negative predictive value (NPV), and (8) there is currently no update of the International Disease Classification10 (ICD10) to include the new classification of dengue (D/SD); therefore, there are not enough experiences of epidemiological reporting. Once D/SD has been implemented in epidemiological surveillance, D/SD allows to (1) identify severity of dengue cases in real time, for any decision-making on actions, (2) measure and compare morbidity and mortality in countries, and also globally, and (3) trigger contingency plans early, not only based on the number of reported cases but also on the reported severity of cases. Conclusion: The expert panel recommends to (1) update ICD10, (2) include D/SD in country epidemiological reports, and (3) implement studies improving sensitivity/specificity of the dengue case definition. PMID:25630344

Optimization of Primary Drying in Lyophilization during Early Phase Drug Development using a Definitive Screening Design with Formulation and Process Factors.

PubMed

Goldman, Johnathan M; More, Haresh T; Yee, Olga; Borgeson, Elizabeth; Remy, Brenda; Rowe, Jasmine; Sadineni, Vikram

2018-06-08

Development of optimal drug product lyophilization cycles is typically accomplished via multiple engineering runs to determine appropriate process parameters. These runs require significant time and product investments, which are especially costly during early phase development when the drug product formulation and lyophilization process are often defined simultaneously. Even small changes in the formulation may require a new set of engineering runs to define lyophilization process parameters. In order to overcome these development difficulties, an eight factor definitive screening design (DSD), including both formulation and process parameters, was executed on a fully human monoclonal antibody (mAb) drug product. The DSD enables evaluation of several interdependent factors to define critical parameters that affect primary drying time and product temperature. From these parameters, a lyophilization development model is defined where near optimal process parameters can be derived for many different drug product formulations. This concept is demonstrated on a mAb drug product where statistically predicted cycle responses agree well with those measured experimentally. This design of experiments (DoE) approach for early phase lyophilization cycle development offers a workflow that significantly decreases the development time of clinically and potentially commercially viable lyophilization cycles for a platform formulation that still has variable range of compositions. Copyright © 2018. Published by Elsevier Inc.

Gender Identity and Gender Role in DSD Patients Raised as Females: A Preliminary Outcome Study

PubMed Central

Ercan, Oya; Kutlug, Seyhan; Uysal, Omer; Alikasifoglu, Mujgan; Inceoglu, Derya

2013-01-01

Gender identity and gender role are expected to be consistent with gender assignment for optimal DSD management outcome. To our knowledge, our study is the first to attempt evaluation of gender related outcomes in Turkish DSD patients. After receiving institutional ethical board approval and subject (or parent) informed consent, subjects with DSD raised as girls (22 patients 46 XX DSD, 11 patients 46 XY DSD) answered 566 questions of the Minnesota Multiphasic Personality Inventory (MMPI) questionnaire including 60-item Masculinity-Femininity (MF) subscale which was the focus in this study. Controls (n: 50) were females similar to the probands in age, level of education, relationship status, and having a job or not also answered all questions. The answers were evaluated by a trained psychologist (Derya Inceoglu) on MMPI. For statistical purposes, seven findings were obtained from the data related to the MF subscale from the patients and controls. Of these seven findings (S1–S7), two were associated with masculinity (S3–S4) and another two were associated with femininity (S5–S6). In DSD patients, the percentages of masculinity findings were significantly higher when compared to controls (p < 0.001 and p < 0.001 for S3 and S4, respectively). In controls, the percentages of femininity findings were significantly higher when compared to DSD females (p < 0.001 and p < 0.001 for S5 and S6 respectively). There was no significant difference between 46 XX DSD patients and 46 XY DSD patients with respect to the percentage of any of the seven findings. Two patients requested gender change to male; only these two patients had the finding stating that sexual impulses could come to existence as actions (S7). In conclusion efforts to identify modifiable factors with negative impact and thus modifying them, and professional guidance may be important in minimizing the encountered gender related problems in DSD patients. PMID:23874323

Gender Identity and Gender Role in DSD Patients Raised as Females: A Preliminary Outcome Study.

PubMed

Ercan, Oya; Kutlug, Seyhan; Uysal, Omer; Alikasifoglu, Mujgan; Inceoglu, Derya

2013-01-01

Gender identity and gender role are expected to be consistent with gender assignment for optimal DSD management outcome. To our knowledge, our study is the first to attempt evaluation of gender related outcomes in Turkish DSD patients. After receiving institutional ethical board approval and subject (or parent) informed consent, subjects with DSD raised as girls (22 patients 46 XX DSD, 11 patients 46 XY DSD) answered 566 questions of the Minnesota Multiphasic Personality Inventory (MMPI) questionnaire including 60-item Masculinity-Femininity (MF) subscale which was the focus in this study. Controls (n: 50) were females similar to the probands in age, level of education, relationship status, and having a job or not also answered all questions. The answers were evaluated by a trained psychologist (Derya Inceoglu) on MMPI. For statistical purposes, seven findings were obtained from the data related to the MF subscale from the patients and controls. Of these seven findings (S1-S7), two were associated with masculinity (S3-S4) and another two were associated with femininity (S5-S6). In DSD patients, the percentages of masculinity findings were significantly higher when compared to controls (p < 0.001 and p < 0.001 for S3 and S4, respectively). In controls, the percentages of femininity findings were significantly higher when compared to DSD females (p < 0.001 and p < 0.001 for S5 and S6 respectively). There was no significant difference between 46 XX DSD patients and 46 XY DSD patients with respect to the percentage of any of the seven findings. Two patients requested gender change to male; only these two patients had the finding stating that sexual impulses could come to existence as actions (S7). In conclusion efforts to identify modifiable factors with negative impact and thus modifying them, and professional guidance may be important in minimizing the encountered gender related problems in DSD patients.

The Escherichia coli argW-dsdCXA genetic island is highly variable, and E. coli K1 strains commonly possess two copies of dsdCXA.

PubMed

Moritz, Rebecca L; Welch, Rodney A

2006-11-01

The genome sequences of Escherichia coli pathotypes reveal extensive genetic variability in the argW-dsdCXA island. Interestingly, the archetype E. coli K1 neonatal meningitis strain, strain RS218, has two copies of the dsdCXA genes for d-serine utilization at the argW and leuX islands. Because the human brain contains d-serine, an epidemiological study emphasizing K1 isolates surveyed the dsdCXA copy number and function. Forty of 41 (97.5%) independent E. coli K1 isolates could utilize d-serine. Southern blot hybridization revealed physical variability within the argW-dsdC region, even among 22 E. coli O18:K1:H7 isolates. In addition, 30 of 41 K1 strains, including 21 of 22 O18:K1:H7 isolates, had two dsdCXA loci. Mutational analysis indicated that each of the dsdA genes is functional in a rifampin-resistant mutant of RS218, mutant E44. The high percentage of K1 strains that can use d-serine is in striking contrast to our previous observation that only 4 of 74 (5%) isolates in the diarrheagenic E. coli (DEC) collection have this activity. The genome sequence of diarrheagenic E. coli isolates indicates that the csrRAKB genes for sucrose utilization are often substituted for dsdC and a portion of dsdX present at the argW-dsdCXA island of extraintestinal isolates. Among DEC isolates there is a reciprocal pattern of sucrose fermentation versus d-serine utilization. The ability to use d-serine is a trait strongly selected for among E. coli K1 strains, which have the ability to infect a wide range of extraintestinal sites. Conversely, diarrheagenic E. coli pathotypes appear to have substituted sucrose for d-serine as a potential nutrient.

Microphysical Retrievals Over Stratiform Rain Using Measurements from an Airborne Dual-Wavelength Radar-Radiometer

NASA Technical Reports Server (NTRS)

Meneghini, Robert; Kumagai, Hiroshi; Wang, James R.; Iguchi, Toshio; Kozu, Toshiaki

1997-01-01

The need to understand the complementarity of the radar and radiometer is important not only to the Tropical Rain Measuring Mission (TRMM) program but to a growing number of multi-instrumented airborne experiment that combine single or dual-frequency radars with multichannel radiometers. The method of analysis used in this study begins with the derivation of dual-wavelength radar equations for the estimation of a two-parameter drop size distribution (DSD). Defining a "storm model" as the set of parameters that characterize snow density, cloud water, water vapor, and features of the melting layer, then to each storm model there will usually correspond a set of range-profiled drop size distributions that are approximate solutions of the radar equations. To test these solutions, a radiative transfer model is used to compute the brightness temperatures for the radiometric frequencies of interest. A storm model or class of storm models is considered optimum if it provides the best reproduction of the radar and radiometer measurements. Tests of the method are made for stratiform rain using simulated storm models as well as measured airborne data. Preliminary results show that the best correspondence between the measured and estimated radar profiles usually can be obtained by using a moderate snow density (0.1-0.2 g/cu cm), the Maxwell-Garnett mixing formula for partially melted hydrometeors (water matrix with snow inclusions), and low to moderate values of the integrated cloud liquid water (less than 1 kg/sq m). The storm-model parameters that yield the best reproductions of the measured radar reflectivity factors also provide brightness temperatures at 10 GHz that agree well with the measurements. On the other hand, the correspondence between the measured and modeled values usually worsens in going to the higher frequency channels at 19 and 34 GHz. In searching for possible reasons for the discrepancies, It is found that changes in the DSD parameter Mu, the radar constants, or the path-integrated attenuation can affect the high frequency channels significantly. In particular, parameters that cause only modest increases in the median mass diameter of the snow, and which have a minor effect on the radar returns or the low frequency brightness temperature, can produce a strong cooling of the 34 GHz brightness temperature.

Head-on collision of dust acoustic solitons in a nonextensive plasma with variable size dust grains of arbitrary charge

NASA Astrophysics Data System (ADS)

Behery, E. E.

2016-11-01

The head-on collision of two dust acoustic solitons (DASs) in a nonextensive plasma with positive or negative dust grains fluid including the effect of dust size distribution (DSD) is studied. The phase shifts for the two solitons due to the collision are derived by applying the extended Poincaré-Lighthill-Kuo (PLK) method. The influences of the power law DSD and the nonextensivity of plasma particles on the characteristic properties of the head-on collision of DASs are analyzed. It is found that the phase shifts can vanish, only for the case of positive dust grains, for certain values and ranges of the dust grain radius and the entropic index of ions (qi) . Also, they undergo a cutoff in the range of qi>1 for the subextensive distribution. A brief discussion of possible applications in laboratory and space plasmas is included.

Laser Calibration of an Impact Disdrometer

NASA Technical Reports Server (NTRS)

Lane, John E.; Kasparis, Takis; Metzger, Philip T.; Jones, W. Linwood

2014-01-01

A practical approach to developing an operational low-cost disdrometer hinges on implementing an effective in situ adaptive calibration strategy. This calibration strategy lowers the cost of the device and provides a method to guarantee continued automatic calibration. In previous work, a collocated tipping bucket rain gauge was utilized to provide a calibration signal to the disdrometer's digital signal processing software. Rainfall rate is proportional to the 11/3 moment of the drop size distribution (a 7/2 moment can also be assumed, depending on the choice of terminal velocity relationship). In the previous case, the disdrometer calibration was characterized and weighted to the 11/3 moment of the drop size distribution (DSD). Optical extinction by rainfall is proportional to the 2nd moment of the DSD. Using visible laser light as a means to focus and generate an auxiliary calibration signal, the adaptive calibration processing is significantly improved.

D-Serine Metabolism and Its Importance in Development of Dictyostelium discoideum

PubMed Central

Ito, Tomokazu; Hamauchi, Natsuki; Hagi, Taisuke; Morohashi, Naoya; Hemmi, Hisashi; Sato, Yukie G.; Saito, Tamao; Yoshimura, Tohru

2018-01-01

In mammals, D-Ser is synthesized by serine racemase (SR) and degraded by D-amino acid oxidase (DAO). D-Ser acts as an endogenous ligand for N-methyl-D-aspartate (NMDA)- and δ2 glutamate receptors, and is involved in brain functions such as learning and memory. Although SR homologs are highly conserved in eukaryotes, little is known about the significance of D-Ser in non-mammals. In contrast to mammals, the slime mold Dictyostelium discoideum genome encodes SR, DAO, and additionally D-Ser specific degradation enzyme D-Ser dehydratase (DSD), but not NMDA- and δ2 glutamate receptors. Here, we studied the significances of D-Ser and DSD in D. discoideum. Enzymatic assays demonstrated that DSD is 460- and 1,700-fold more active than DAO and SR, respectively, in degrading D-Ser. Moreover, in dsd-null cells D-Ser degradation activity is completely abolished. In fact, while in wild-type D. discoideum intracellular D-Ser levels were considerably low, dsd-null cells accumulated D-Ser. These results indicated that DSD but not DAO is the primary enzyme responsible for D-Ser decomposition in D. discoideum. We found that dsd-null cells exhibit delay in development and arrest at the early culmination stage. The efficiency of spore formation was considerably reduced in the mutant cells. These phenotypes were further pronounced by exogenous D-Ser but rescued by plasmid-borne expression of dsd. qRT-PCR analysis demonstrated that mRNA expression of key genes in the cAMP signaling relay is perturbed in the dsd knockout. Our data indicate novel roles for D-Ser and/or DSD in the regulation of cAMP signaling in the development processes of D. discoideum. PMID:29740415

Refining the regulatory region upstream of SOX9 associated with 46,XX testicular disorders of Sex Development (DSD).

PubMed

Hyon, Capucine; Chantot-Bastaraud, Sandra; Harbuz, Radu; Bhouri, Rakia; Perrot, Nicolas; Peycelon, Matthieu; Sibony, Mathilde; Rojo, Sandra; Piguel, Xavier; Bilan, Frederic; Gilbert-Dussardier, Brigitte; Kitzis, Alain; McElreavey, Ken; Siffroi, Jean-Pierre; Bashamboo, Anu

2015-08-01

Disorders of Sex Development (DSD) are a heterogeneous group of disorders affecting gonad and/or genito-urinary tract development and usually the endocrine-reproductive system. A genetic diagnosis is made in only around 20% of these cases. The genetic causes of 46,XX-SRY negative testicular DSD as well as ovotesticular DSD are poorly defined. Duplications involving a region located ∼600 kb upstream of SOX9, a key gene in testis development, were reported in several cases of 46,XX DSD. Recent studies have narrowed this region down to a 78 kb interval that is duplicated or deleted respectively in 46,XX or 46,XY DSD. We identified three phenotypically normal patients presenting with azoospermia and 46,XX testicular DSD. Two brothers carried a 83.8 kb duplication located ∼600 kb upstream of SOX9 that overlapped with the previously reported rearrangements. This duplication refines the minimal region associated with 46,XX-SRY negative DSD to a 40.7-41.9 kb element located ∼600 kb upstream of SOX9. Predicted enhancer elements and evolutionary-conserved binding sites for proteins known to be involved in testis determination are located within this region. © 2015 Wiley Periodicals, Inc.

Improving the rainfall rate estimation in the midstream of the Heihe River Basin using rain drop size distribution

NASA Astrophysics Data System (ADS)

Zhao, G.; Chu, R.; Li, X.; Zhang, T.; Shen, J.; Wu, Z.

2009-09-01

During the intensive observation period of the Watershed Allied Telemetry Experimental Research (WATER), a total of 1074 raindrop size distribution were measured by the Parsivel disdrometer, a latest state of the art optical laser instrument. Because of the limited observation data in Qinghai-Tibet Plateau, the modeling behavior was not well-done. We used raindrop size distributions to improve the rain rate estimator of meteorological radar, in order to obtain many accurate rain rate data in this area. We got the relationship between the terminal velocity of the rain drop and the diameter (mm) of a rain drop: v(D)=4.67 D0.53. Then four types of estimators for X-band polarimetric radar are examined. The simulation results show that the classical estimator R(Z) is most sensitive to variations in DSD and the estimator R (KDP, Z, ZDR) is the best estimator for estimating the rain rate. The lowest sensitivity of the rain rate estimator R (KDP, Z, ZDP) to variations in DSD can be explained by the following facts. The difference in the forward-scattering amplitudes at horizontal and vertical polarizations, which contributes KDP, is proportional to the 3rd power of the drop diameter. On the other hand, the exponent of the backscatter cross section, which contributes to Z, is proportional to the 6th power of the drop diameter. Because the rain rate R is proportional to the 3.57th power of the drop diameter, KDP is less sensitive to DSD variations than Z.

Improving the rainfall rate estimation in the midstream of the Heihe River Basin using raindrop size distribution

NASA Astrophysics Data System (ADS)

Zhao, G.; Chu, R.; Zhang, T.; Li, J.; Shen, J.; Wu, Z.

2011-03-01

During the intensive observation period of the Watershed Allied Telemetry Experimental Research (WATER), a total of 1074 raindrop size distribution were measured by the Parsivel disdrometer, the latest state-of-the-art optical laser instrument. Because of the limited observation data in Qinghai-Tibet Plateau, the modelling behaviour was not well done. We used raindrop size distributions to improve the rain rate estimator of meteorological radar in order to obtain many accurate rain rate data in this area. We got the relationship between the terminal velocity of the raindrop and the diameter (mm) of a raindrop: v(D) = 4.67D0.53. Then four types of estimators for X-band polarimetric radar are examined. The simulation results show that the classical estimator R (ZH) is most sensitive to variations in DSD and the estimator R (KDP, ZH, ZDR) is the best estimator for estimating the rain rate. An X-band polarimetric radar (714XDP) is used for verifying these estimators. The lowest sensitivity of the rain rate estimator R (KDP, ZH, ZDR) to variations in DSD can be explained by the following facts. The difference in the forward-scattering amplitudes at horizontal and vertical polarizations, which contributes KDP, is proportional to the 3rd power of the drop diameter. On the other hand, the exponent of the backscatter cross-section, which contributes to ZH, is proportional to the 6th power of the drop diameter. Because the rain rate R is proportional to the 3.57th power of the drop diameter, KDP is less sensitive to DSD variations than ZH.

Gender Development in 46,XY DSD: Influences of Chromosomes, Hormones, and Interactions with Parents and Healthcare Professionals

PubMed Central

Wisniewski, Amy B.

2012-01-01

Variables that impact gender development in humans are difficult to evaluate. This difficulty exists because it is not usually possible to tease apart biological influences on gender from social variables. People with disorders of sex development, or DSD, provide important opportunities to study gender within individuals for whom biologic components of sex can be discordant with social components of gender. While most studies of gender development in people with 46,XY DSD have historically emphasized the importance of genes and hormones on gender identity and gender role, more recent evidence for a significant role for socialization exists and is considered here. For example, the influence of parents' perceptions of, and reactions to, DSD are considered. Additionally, the impact of treatments for DSD such as receiving gonadal surgeries or genitoplasty to reduce genital ambiguity on the psychological development of people with 46,XY DSD is presented. Finally, the role of multi-disciplinary care including access to peer support for advancing medical, surgical and psychosexual outcomes of children and adults with 46,XY DSD, regardless of sex of rearing, is discussed. PMID:24278745

Duplication of SOX9 is not a common cause of 46,XX testicular or 46,XX ovotesticular DSD.

PubMed

Seeherunvong, Tossaporn; Ukarapong, Supamit; McElreavey, Kenneth; Berkovitz, Gary D; Perera, Erasmo M

2012-01-01

Translocation of the SRY gene to the paternal X chromosome is the explanation for testis development in the majority of subjects with 46,XX testicular disorder of sexual development (DSD). However, nearly all subjects with 46,XX ovotesticular DSD and up to one third of subjects with 46,XX testicular DSD lack SRY. SRY-independent expression of SOX9 has been implicated in the etiology of testis development in some individuals. We amplified microsatellite markers in the region of SOX9 from a cohort of 30 subjects with either 46,XX testicular or 46,XX ovotesticular DSD to detect SOX9 duplications. Duplication of the SOX9 region in 17q was not detected in any subject. Duplication in the region of 17q that contains SOX9 is not a common cause of testis development in subjects with SRY-negative 46,XX testicular or ovotesticular DSD.

Vertical Variability of Rain Drop Size Distribution from Micro Rain Radar Measurements during IFloodS

NASA Astrophysics Data System (ADS)

Adirosi, Elisa; Tokay, Ali; Roberto, Nicoletta; Gorgucci, Eugenio; Montopoli, Mario; Baldini, Luca

2017-04-01

Ground based weather radars are highly used to generate rainfall products for meteorological and hydrological applications. However, weather radar quantitative rainfall estimation is obtained at a certain altitude that depends mainly on the radar elevation angle and on the distance from the radar. Therefore, depending on the vertical variability of rainfall, a time-height ambiguity between radar measurement and rainfall at the ground can affect the rainfall products. The vertically pointing radars (such as the Micro Rain Radar, MRR) are great tool to investigate the vertical variability of rainfall and its characteristics and ultimately, to fill the gap between the ground level and the first available radar elevation. Furthermore, the knowledge of rain Drop Size Distribution (DSD) variability is linked to the well-known problem of the non-uniform beam filling that is one of the main uncertainties of Global Precipitation Measurement (GPM) mission Dual frequency Precipitation Radar (DPR). During GPM Ground Validation Iowa Flood Studies (IFloodS) field experiment, data collected with 2D video disdrometers (2DVD), Autonomous OTT Parsivel2 Units (APU), and MRR profilers at different sites were available. In three different sites co-located APU, 2DVD and MRR are available and covered by the S-band Dual Polarimetric Doppler radar (NPOL). The first elevation height of the radar beam varies, among the three sites, between 70 m and 1100 m. The IFloodS set-up has been used to compare disdrometers, MRR and NPOL data and to evaluate the uncertainties of those measurements. First, the performance of disdrometers and MRR in determining different rainfall parameters at ground has been evaluated and then the MRR based parameters have been compared with the ones obtained from NPOL data at the lowest elevations. Furthermore, the vertical variability of DSD and integral rainfall parameters within the MRR bins (from ground to 1085 m each 35 m) has been investigated in order to provide some insight on the variability of the rainfall microphysical characteristics within about 1 km above the ground.

Reducing bias in rainfall estimates from microwave links by considering variable drop size distribution

NASA Astrophysics Data System (ADS)

Fencl, Martin; Jörg, Rieckermann; Vojtěch, Bareš

2015-04-01

Commercial microwave links (MWL) are point-to-point radio systems which are used in backhaul networks of cellular operators. For several years, they have been suggested as rainfall sensors complementary to rain gauges and weather radars, because, first, they operate at frequencies where rain drops represent significant source of attenuation and, second, cellular networks almost completely cover urban and rural areas. Usually, path-average rain rates along a MWL are retrieved from the rain-induced attenuation of received MWL signals with a simple model based on a power law relationship. The model is often parameterized based on the characteristics of a particular MWL, such as frequency, polarization and the drop size distribution (DSD) along the MWL. As information on the DSD is usually not available in operational conditions, the model parameters are usually considered constant. Unfortunately, this introduces bias into rainfall estimates from MWL. In this investigation, we propose a generic method to eliminate this bias in MWL rainfall estimates. Specifically, we search for attenuation statistics which makes it possible to classify rain events into distinct groups for which same power-law parameters can be used. The theoretical attenuation used in the analysis is calculated from DSD data using T-Matrix method. We test the validity of our approach on observations from a dedicated field experiment in Dübendorf (CH) with a 1.85-km long commercial dual-polarized microwave link transmitting at a frequency of 38 GHz, an autonomous network of 5 optical distrometers and 3 rain gauges distributed along the path of the MWL. The data is recorded at a high temporal resolution of up to 30s. It is further tested on data from an experimental catchment in Prague (CZ), where 14 MWLs, operating at 26, 32 and 38 GHz frequencies, and reference rainfall from three RGs is recorded every minute. Our results suggest that, for our purpose, rain events can be nicely characterized based on only the maximum rain-induced attenuation of an event. Based on our experimental data, optimal results were achieved by classifying the rain events into three distinct groups with different power-law parameters for each group. In general, the classification of rain events based on attenuation data enables to substantially reduce bias in MWL rainfall estimates due to the power-law model. Thus, when using MWLs for rainfall estimation, reference rain events should be first classified and model parameters of a power-law retrieval model should be fitted for each of class separately. However, this at least requires rainfall data in sub-hourly resolution. It seems very promising to further investigate methods to adjust local MWL rainfall estimates to rainfall observations from traditional sensors. Messer, H., Zinevich, A., Alpert, P., 2006: Environmental Monitoring by Wireless Communication Networks. Science 312, 713-713. doi:10.1126/science.1120034 Fencl, M., Rieckermann, J., Sýkora, P., Stránský D. and Bareš V. 2014: Commercial microwave links instead of rain gauges - fiction or reality? Wat. Sci. Tech., in press doi:10.2166/wst.2014.466 Acknowledgements to Czech Science Foundation project No. 14-22978S and Czech Technical University in Prague project No. SGS13/127/OHK1/2T/11.

Clinical evaluation study of the German network of disorders of sex development (DSD)/intersexuality: study design, description of the study population, and data quality

PubMed Central

Lux, Anke; Kropf, Siegfried; Kleinemeier, Eva; Jürgensen, Martina; Thyen, Ute

2009-01-01

Background The German Network of Disorders of Sex Development (DSD)/Intersexuality carried out a large scale clinical evaluation study on quality of life, gender identity, treatment satisfaction, coping, and problems associated with diagnoses and therapies in individuals with disorders of sex development (DSD). DSD are a heterogeneous group of various genetic disorders of sex determination or sex differentiation, all of which are rare conditions. In about half of all cases the molecular genetic diagnosis is unknown and diagnosis rests on clinical features. Methods and design The multi-centre clinical evaluation study includes short-term follow-up in some and cross-sectional assessments in all age and diagnostic groups fitting the criteria of DSD. Recruitment was from January 2005 until December 2007 in whole Germany and, additionally, in 2007 in Austria and German-speaking Switzerland. The study consists of a psychosocial inquiry for children, adolescents and their parents, and adults with standardized instruments and the collection of DSD-specific medical data by the attending physician. The main goal was the description of clinical outcomes and the health-care situation of individuals with DSD using a broad generic definition of DSD including all conditions with a mismatch of chromosomal, gonadal and phenotypical sex. 439 children and adolescents, their parents and adults with DSD participated. Discussion The clinical evaluation study represents the most comprehensive study in this clinical field. The paper discusses the study protocol, the data management and data quality as well as the classification used, and it describes the study population. Given the lack of large datasets in rare conditions such as DSD and often biased results from small scale clinical case series, the study aims to generate concrete hypotheses for evidence-based guidelines, which should be tested in further studies. PMID:19383134

Surgery in disorders of sex development (DSD) with a gender issue: If (why), when, and how?

PubMed

Mouriquand, Pierre D E; Gorduza, Daniela Brindusa; Gay, Claire-Lise; Meyer-Bahlburg, Heino F L; Baker, Linda; Baskin, Laurence S; Bouvattier, Claire; Braga, Luis H; Caldamone, Anthony C; Duranteau, Lise; El Ghoneimi, Alaa; Hensle, Terry W; Hoebeke, Piet; Kaefer, Martin; Kalfa, Nicolas; Kolon, Thomas F; Manzoni, Gianantonio; Mure, Pierre-Yves; Nordenskjöld, Agneta; Pippi Salle, J L; Poppas, Dix Phillip; Ransley, Philip G; Rink, Richard C; Rodrigo, Romao; Sann, Léon; Schober, Justine; Sibai, Hisham; Wisniewski, Amy; Wolffenbuttel, Katja P; Lee, Peter

2016-06-01

Ten years after the consensus meeting on disorders of sex development (DSD), genital surgery continues to raise questions and criticisms concerning its indications, its technical aspects, timing and evaluation. This standpoint details each distinct situation and its possible management in 5 main groups of DSD patients with atypical genitalia: the 46,XX DSD group (congenital adrenal hyperplasia); the heterogeneous 46,XY DSD group (gonadal dysgenesis, disorders of steroidogenesis, target tissues impairments …); gonosomic mosaicisms (45,X/46,XY patients); ovo-testicular DSD; and "non-hormonal/non chromosomal" DSD. Questions are summarized for each DSD group with the support of literature and the feed-back of several world experts. Given the complexity and heterogeneity of presentation there is no consensus regarding the indications, the timing, the procedure nor the evaluation of outcome of DSD surgery. There are, however, some issues on which most experts would agree: 1) The need for identifying centres of expertise with a multidisciplinary approach; 2) A conservative management of the gonads in complete androgen insensitivity syndrome at least until puberty although some studies expressed concerns about the heightened tumour risk in this group; 3) To avoid vaginal dilatation in children after surgical reconstruction; 4) To keep asymptomatic mullerian remnants during childhood; 5) To remove confirmed streak gonads when Y material is present; 6) It is likely that 46,XY cloacal exstrophy, aphallia and severe micropenis would do best raised as male although this is based on limited outcome data. There is general acknowledgement among experts that timing, the choice of the individual and irreversibility of surgical procedures are sources of concerns. There is, however, little evidence provided regarding the impact of non-treated DSD during childhood for the individual development, the parents, society and the risk of stigmatization. The low level of evidence should lead to design collaborative prospective studies involving all parties and using consensual protocols of evaluation. Copyright © 2016 Journal of Pediatric Urology Company. Published by Elsevier Ltd. All rights reserved.

CHALLENGES OF DSD: DIVERSE PERCEPTIONS ACROSS STAKEHOLDERS

PubMed Central

Kogan, Barry A.; Gardner, Melissa; Alpern, Adrianne N.; Cohen, Laura M.; Grimley, Mary Beth; Quittner, Alexandra L.; Sandberg, David E.

2012-01-01

Background/Aims Disorders of Sex Development (DSD) are congenital conditions in which chromosomal, gonadal, or anatomic sex development is atypical. Optimal management is patient- and family-centered and delivered by interdisciplinary teams. The present pilot study elicits concerns held by important stakeholders on issues affecting young patients with DSD and their families. Methods Content from focus groups with expert clinicians (pediatric urologists [n=7], pediatric endocrinologists [n=10], mental health professionals [n=4]), DSD patient advocates (n=4), and interviews with parents of DSD-affected children (newborn to 6 yrs; n=11) was coded and content-analyzed to identify health-related quality of life issues. Results Key stressors varied across stakeholder groups. In general, family-centered issues were noted more than child-centered. In the child-centered domain, providers worried more about physical functioning; family and advocates emphasized gender concerns and body image. In the family-centered domain, parental concerns about medication management outweighed those of providers. Advocates reported more stressors regarding communication/information than other stakeholders. Conclusion Variability exists across stakeholder groups in the key concerns affecting young children/families with DSD. Interdisciplinary DSD healthcare team development should account for varying perspectives when counseling families and planning treatment. PMID:22832323

Gender Issues and Related Social Stigma Affecting Patients with a Disorder of Sex Development in India.

PubMed

Joseph, Angela Ann; Kulshreshtha, Bindu; Shabir, Iram; Marumudi, Eunice; George, Tony Sam; Sagar, Rajesh; Mehta, Manju; Ammini, Ariachery C

2017-02-01

Children with disorders of sex development (DSD) manifest at birth with malformed genitalia or later with atypical pubertal development. Those born with malformed genitalia are often diagnosed at birth. However, in resource-poor countries like India, where not all births are supervised by healthcare workers, some of these children remain undiagnosed until puberty or even later. The aim of this study was to assess the gender issues and psychosocial problems of children with DSD. Participants included 205 children with DSD (103 with 46,XX DSD and 102 with 46,XY DSD). Both the children with DSD and their parents underwent semistructured interviews by a clinical psychologist. The birth of a child with DSD was perceived as a major medical and social problem by parents from all socioeconomic strata. Mothers were distressed as many believed the DSD condition was transmitted through the mother. Children who were not diagnosed and treated during infancy or early childhood experienced considerable social discrimination not only from relatives and friends but also from medical and paramedical staff in hospitals. Several patients had been operated during infancy without an etiological diagnosis and without provision of adequate information to the parents. Some children had problems related to complications of surgery. Most teenage patients with 5α-reductase-2 deficiency reared as females presented with gender dysphoria, while children with androgen insensitivity (except for one) or with gonadal dysgenesis developed a gender identity concordant with their gender of rearing. Parents of children with DSD preferred a male gender assignment for their children (if that was possible) because of the social advantages of growing up male in a patriarchal society.

An Experimental Study of Small-Scale Variability of Raindrop Size Distribution

NASA Technical Reports Server (NTRS)

Tokay, Ali; Bashor, Paul G.

2010-01-01

An experimental study of small-scale variability of raindrop size distributions (DSDs) has been carried out at Wallops Island, Virginia. Three Joss-Waldvogel disdrometers were operated at a distance of 0.65, 1.05, and 1.70 km in a nearly straight line. The main purpose of the study was to examine the variability of DSDs and its integral parameters of liquid water content, rainfall, and reflectivity within a 2-km array: a typical size of Cartesian radar pixel. The composite DSD of rain events showed very good agreement among the disdrometers except where there were noticeable differences in midsize and large drops in a few events. For consideration of partial beam filling where the radar pixel was not completely covered by rain, a single disdrometer reported just over 10% more rainy minutes than the rainy minutes when all three disdrometers reported rainfall. Similarly two out of three disdrometers reported5%more rainy minutes than when all three were reporting rainfall. These percentages were based on a 1-min average, and were less for longer averaging periods. Considering only the minutes when all three disdrometers were reporting rainfall, just over one quarter of the observations showed an increase in the difference in rainfall with distance. This finding was based on a 15-min average and was even less for shorter averaging periods. The probability and cumulative distributions of a gamma-fitted DSD and integral rain parameters between the three disdrometers had a very good agreement and no major variability. This was mainly due to the high percentage of light stratiform rain and to the number of storms that traveled along the track of the disdrometers. At a fixed time step, however, both DSDs and integral rain parameters showed substantial variability. The standard deviation (SD) of rain rate was near 3 mm/h, while the SD of reflectivity exceeded 3 dBZ at the longest separation distance. These standard deviations were at 6-min average and were higher at shorter averaging periods. The correlations decreased with increasing separation distance. For rain rate, the correlations were higher than previous gauge-based studies. This was attributed to the differences in data processing and the difference in rainfall characteristics in different climate regions. It was also considered that the gauge sampling errors could be a factor. In this regard, gauge measurements were simulated employing existing disdrometer dataset. While a difference was noticed in cumulative distribution of rain occurrence between the simulated gauge and disdrometer observations, the correlations in simulated gauge measurements did not differ from the disdrometer measurements.

Psychosocial Implications of DSD Treatment for Parents

PubMed Central

Wisniewski, Amy B.

2017-01-01

Purpose of the review Historically, studies of caregivers of children with DSD have been limited. Recent findings Recent data reveal that parents of young children with DSD report increased stress, anxiety, depression and decreased quality of life (QoL) in ways that are similar to parents of children with other types of chronic illnesses. Also similar to other chronic illnesses of childhood, parents of children with DSD exhibit overprotective parenting and perceive their child as being vulnerable. These emotions and behaviors exhibited by parents are concerning as they may limit an affected child’s emotional and social development over time. Perhaps more unique to the situation of DSD is the perceived, or real, child-focused stigma experienced by parents of children with DSD. Summary Interventions to improve parents’ psychosocial adaptation to their child’s medical condition, including coaching in how to discuss their child’s condition in a manner that makes them feel safe and supported, are needed to optimize outcomes for families. PMID:27584026

Oil Droplet Size Distribution and Optical Properties During Wave Tank Simulated Oil Spills

NASA Astrophysics Data System (ADS)

Conmy, R. N.; Venosa, A.; Courtenay, S.; King, T.; Robinson, B.; Ryan, S.

2013-12-01

Fate and transport of spilled petroleum oils in aquatic environments is highly dependent upon oil droplet behavior which is a function of chemical composition, dispersibility (natural and chemically-enhanced) and droplet size distribution (DSD) of the oil. DSD is influenced by mixing energy, temperature, salinity, pressure, presence of dissolved and particulate materials, flow rate of release, and application of dispersants. To better understand DSD and droplet behavior under varying physical conditions, flask-scale experiments are often insufficient. Rather, wave tank simulations allow for scaling to field conditions. Presented here are experiment results from the Bedford Institute of Oceanography wave tank facility, where chemically-dispersed (Corexit 9500; DOR = 1:20) Louisiana Sweet crude, IFO-120 and ANS crude oil were exposed to mixing energies to achieve dispersant effectiveness observed in the field. Oil plumes were simulated, both surface and subsea releases with varying water temperature and flow rate. Fluorometers (Chelsea Technologies Group AQUATracka, Turner Designs Cyclops, WET Labs Inc ECO) and particle size analyzers (Sequoia LISST) were used to track the dispersed plumes in the tank and characterize oil droplets. Sensors were validated with known oil volumes (down to 300 ppb) and measured Total Petroleum Hydrocarbons (TPH) and Benzene-Toluene-Ethylbenzene-Xylene (BTEX) values. This work has large implications for tracking surface and deep sea oil plumes with fluorescence and particle size analyzers, improved weathering and biodegradation estimates, and understanding the fate and transport of spill oil.

Mobile Disdrometer Observations of Nocturnal Mesoscale Convective Systems During PECAN

NASA Astrophysics Data System (ADS)

Bodine, D. J.; Rasmussen, K. L.

2015-12-01

Understanding microphysical processes in nocturnal mesoscale convective systems (MCSs) is an important objective of the Plains Elevated Convection At Night (PECAN) experiment, which occurred from 1 June - 15 July 2015 in the central Great Plains region of the United States. Observations of MCSs were collected using a large array of mobile and fixed instrumentation, including ground-based radars, soundings, PECAN Integrated Sounding Arrays (PISAs), and aircraft. In addition to these observations, three mobile Parsivel disdrometers were deployed to obtain drop-size distribution (DSD) measurements to further explore microphysical processes in convective and stratiform regions of nocturnal MCSs. Disdrometers were deployed within close range of a multiple frequency network of mobile and fixed dual-polarization radars (5 - 30 km range), and near mobile sounding units and PISAs. Using mobile disdrometer and multiple-wavelength, dual-polarization radar data, microphysical properties of convective and stratiform regions of MCSs are investigated. The analysis will also examine coordinated Range-Height Indicator (RHI) scans over the disdrometers to elucidate vertical DSD structure. Analysis of dense observations obtained during PECAN in combination with mobile disdrometer DSD measurements contributes to a greater understanding of the structural characteristics and evolution of nocturnal MCSs.

Steroid hormone analysis in diagnosis and treatment of DSD: position paper of EU COST Action BM 1303 'DSDnet'.

PubMed

Kulle, A; Krone, N; Holterhus, P M; Schuler, G; Greaves, R F; Juul, A; de Rijke, Y B; Hartmann, M F; Saba, A; Hiort, O; Wudy, S A

2017-05-01

Disorders or differences in sex development (DSD) comprise a heterogeneous group of conditions with an atypical sex development. For optimal diagnosis, highly specialised laboratory analyses are required across European countries. Working group 3 of EU COST (European Cooperation in Science and Technology) Action BM 1303 'DSDnet' 'Harmonisation of Laboratory Assessment' has developed recommendations on laboratory assessment for DSD regarding the use of technologies and analytes to be investigated. This position paper on steroid hormone analysis in diagnosis and treatment of DSD was compiled by a group of specialists in DSD and/or hormonal analysis, either from participating European countries or international partner countries. The topics discussed comprised analytical methods (immunoassay/mass spectrometry-based methods), matrices (urine/serum/saliva) and harmonisation of laboratory tests. The following positions were agreed upon: support of the appropriate use of immunoassay- and mass spectrometry-based methods for diagnosis and monitoring of DSD. Serum/plasma and urine are established matrices for analysis. Laboratories performing analyses for DSD need to operate within a quality framework and actively engage in harmonisation processes so that results and their interpretation are the same irrespective of the laboratory they are performed in. Participation in activities of peer comparison such as sample exchange or when available subscribing to a relevant external quality assurance program should be achieved. The ultimate aim of the guidelines is the implementation of clinical standards for diagnosis and appropriate treatment of DSD to achieve the best outcome for patients, no matter where patients are investigated or managed. © 2017 The authors.

Otoacoustic emissions, auditory evoked potentials and self-reported gender in people affected by disorders of sex development (DSD).

PubMed

Wisniewski, Amy B; Espinoza-Varas, Blas; Aston, Christopher E; Edmundson, Shelagh; Champlin, Craig A; Pasanen, Edward G; McFadden, Dennis

2014-08-01

Both otoacoustic emissions (OAEs) and auditory evoked potentials (AEPs) are sexually dimorphic, and both are believed to be influenced by prenatal androgen exposure. OAEs and AEPs were collected from people affected by 1 of 3 categories of disorders of sex development (DSD) - (1) women with complete androgen insensitivity syndrome (CAIS); (2) women with congenital adrenal hyperplasia (CAH); and (3) individuals with 46,XY DSD including prenatal androgen exposure who developed a male gender despite initial rearing as females (men with DSD). Gender identity (GI) and role (GR) were measured both retrospectively and at the time of study participation, using standardized questionnaires. The main objective of this study was to determine if patterns of OAEs and AEPs correlate with gender in people affected by DSD and in controls. A second objective was to assess if OAE and AEP patterns differed according to degrees of prenatal androgen exposure across groups. Control males, men with DSD, and women with CAH produced fewer spontaneous OAEs (SOAEs) - the male-typical pattern - than control females and women with CAIS. Additionally, the number of SOAEs produced correlated with gender development across all groups tested. Although some sex differences in AEPs were observed between control males and females, AEP measures did not correlate with gender development, nor did they vary according to degrees of prenatal androgen exposure, among people with DSD. Thus, OAEs, but not AEPs, may prove useful as bioassays for assessing early brain exposure to androgens and predicting gender development in people with DSD. Copyright © 2014 Elsevier Inc. All rights reserved.

Otoacoustic Emissions, Auditory Evoked Potentials and Self-Reported Gender in People Affected by Disorders of Sex Development (DSD)

PubMed Central

Wisniewski, Amy B.; Espinoza-Varas, Blas; Aston, Christopher E.; Edmundson, Shelagh; Champlin, Craig A.; Pasanen, Edward G.; McFadden, Dennis

2014-01-01

Both otoacoustic emissions (OAEs) and auditory evoked potentials (AEPs) are sexually dimorphic, and both are believed to be influenced by prenatal androgen exposure. OAEs and AEPs were collected from people affected by 1 of 3 categories of disorders of sex development (DSD) – (1) women with complete androgen insensitivity syndrome (CAIS); (2) women with congenital adrenal hyperplasia (CAH); and (3) individuals with 46, XY DSD including prenatal androgen exposure who developed a male gender despite initial rearing as females (men with DSD). Gender identity (GI) and role (GR) were measured both retrospectively and at the time of study participation, using standardized questionnaires. The main objective of this study was to determine if patterns of OAEs and AEPs correlate with gender in people affected by DSD and in controls. A second objective was to assess if OAE and AEP patterns differed according to degrees of prenatal androgen exposure across groups. Control males, men with DSD, and women with CAH produced fewer spontaneous OAEs (SOAEs) – the male-typical pattern – than control females and women with CAIS. Additionally, the number of SOAEs produced correlated with gender development across all groups tested. Although some sex differences in AEPs were observed between control males and females, AEP measures did not correlate with gender development, nor did they vary according to degrees of prenatal androgen exposure, among people with DSD. Thus, OAEs, but not AEPs, may prove useful as bioassays for assessing early brain exposure to androgens and predicting gender development in people with DSD. PMID:25038289

XX Disorder of Sex Development is associated with an insertion on chromosome 9 and downregulation of RSPO1 in dogs (Canis lupus familiaris).

PubMed

Meyers-Wallen, Vicki N; Boyko, Adam R; Danko, Charles G; Grenier, Jennifer K; Mezey, Jason G; Hayward, Jessica J; Shannon, Laura M; Gao, Chuan; Shafquat, Afrah; Rice, Edward J; Pujar, Shashikant; Eggers, Stefanie; Ohnesorg, Thomas; Sinclair, Andrew H

2017-01-01

Remarkable progress has been achieved in understanding the mechanisms controlling sex determination, yet the cause for many Disorders of Sex Development (DSD) remains unknown. Of particular interest is a rare XX DSD subtype in which individuals are negative for SRY, the testis determining factor on the Y chromosome, yet develop testes or ovotestes, and both of these phenotypes occur in the same family. This is a naturally occurring disorder in humans (Homo sapiens) and dogs (C. familiaris). Phenotypes in the canine XX DSD model are strikingly similar to those of the human XX DSD subtype. The purposes of this study were to identify 1) a variant associated with XX DSD in the canine model and 2) gene expression alterations in canine embryonic gonads that could be informative to causation. Using a genome wide association study (GWAS) and whole genome sequencing (WGS), we identified a variant on C. familiaris autosome 9 (CFA9) that is associated with XX DSD in the canine model and in affected purebred dogs. This is the first marker identified for inherited canine XX DSD. It lies upstream of SOX9 within the canine ortholog for the human disorder, which resides on 17q24. Inheritance of this variant indicates that XX DSD is a complex trait in which breed genetic background affects penetrance. Furthermore, the homozygous variant genotype is associated with embryonic lethality in at least one breed. Our analysis of gene expression studies (RNA-seq and PRO-seq) in embryonic gonads at risk of XX DSD from the canine model identified significant RSPO1 downregulation in comparison to XX controls, without significant upregulation of SOX9 or other known testis pathway genes. Based on these data, a novel mechanism is proposed in which molecular lesions acting upstream of RSPO1 induce epigenomic gonadal mosaicism.

XX Disorder of Sex Development is associated with an insertion on chromosome 9 and downregulation of RSPO1 in dogs (Canis lupus familiaris)

PubMed Central

Boyko, Adam R.; Grenier, Jennifer K.; Mezey, Jason G.; Hayward, Jessica J.; Shannon, Laura M.; Gao, Chuan; Shafquat, Afrah; Rice, Edward J.; Eggers, Stefanie; Ohnesorg, Thomas; Sinclair, Andrew H.

2017-01-01

Remarkable progress has been achieved in understanding the mechanisms controlling sex determination, yet the cause for many Disorders of Sex Development (DSD) remains unknown. Of particular interest is a rare XX DSD subtype in which individuals are negative for SRY, the testis determining factor on the Y chromosome, yet develop testes or ovotestes, and both of these phenotypes occur in the same family. This is a naturally occurring disorder in humans (Homo sapiens) and dogs (C. familiaris). Phenotypes in the canine XX DSD model are strikingly similar to those of the human XX DSD subtype. The purposes of this study were to identify 1) a variant associated with XX DSD in the canine model and 2) gene expression alterations in canine embryonic gonads that could be informative to causation. Using a genome wide association study (GWAS) and whole genome sequencing (WGS), we identified a variant on C. familiaris autosome 9 (CFA9) that is associated with XX DSD in the canine model and in affected purebred dogs. This is the first marker identified for inherited canine XX DSD. It lies upstream of SOX9 within the canine ortholog for the human disorder, which resides on 17q24. Inheritance of this variant indicates that XX DSD is a complex trait in which breed genetic background affects penetrance. Furthermore, the homozygous variant genotype is associated with embryonic lethality in at least one breed. Our analysis of gene expression studies (RNA-seq and PRO-seq) in embryonic gonads at risk of XX DSD from the canine model identified significant RSPO1 downregulation in comparison to XX controls, without significant upregulation of SOX9 or other known testis pathway genes. Based on these data, a novel mechanism is proposed in which molecular lesions acting upstream of RSPO1 induce epigenomic gonadal mosaicism. PMID:29053721

Key discussions from the Working Party on Disorders of Sex Development (DSD) evaluation, Foundation Merieux, Annecy, France, March 14-17, 2012

PubMed Central

2013-01-01

Four topics from the DSD Working Party, a meeting to provide information regarding future studies, reported here are the complexities of hypospadias, surgical treatment of virilized genitalia of 46,XX DSD individuals, advances in phalloplasty and psychological, social and sexual outcomes. PMID:23829860

The challenges in diagnosis and gender assignment in disorders of sex development presenting to a pediatric surgical unit in a developing country: the role of laparoscopy and simple tests for gender identity.

PubMed

Chowdhury, Tanvir K; Kabir, Mahfuzul; Chowdhury, Md Zonaid; Hutson, John M; Banu, Tahmina

2014-12-01

We aimed to assess how the diagnosis and determination of gender identity of disorders of sex development (DSD) is different in a developing country from Western medicine, and whether a pediatric surgery department can determine the underlying diagnosis and use simple tools to determine the likely gender identity (GI). We reviewed the records of DSD patients admitted to the Department of Pediatric Surgery, Chittagong Medical College & Hospital (CMCH), Chittagong, Bangladesh, from January 2006 to December 2012 and performed a cross-sectional study on GI and gender-related behavior in these patients during the year 2012. DSD boys and girls answered a GI interview and had their gender role behavior assessed by observations of structural toy play and analyzed for differences in scores. This cohort of DSD patients presented in mid-childhood (6 months-16 years, mean 6.9 years) rather than infancy, and 30% came from consanguineous unions. Congenital adrenal hyperplasia (CAH) constituted only 11 of 50 (22%) of the DSD cohort, and not all families had access to steroid hormone replacement. A simple assessment of GI and gender-related behavior allowed effective gender assignment, as there was significant difference between DSD boys and girls in GI and gender-related behavior score. DSD management in Bangladesh provides some unique challenges because of limited resources. A national reference laboratory for biochemical and genetic testing and development of a quaternary referral center for DSD patients will be helpful. Continued use of the GI interview and gender-related behavior study will enable effective interim decisions about diagnosis and management. Copyright © 2014 Journal of Pediatric Urology Company. Published by Elsevier Ltd. All rights reserved.

Novel associations in disorders of sex development: findings from the I-DSD Registry.

PubMed

Cox, Kathryn; Bryce, Jillian; Jiang, Jipu; Rodie, Martina; Sinnott, Richard; Alkhawari, Mona; Arlt, Wiebke; Audi, Laura; Balsamo, Antonio; Bertelloni, Silvano; Cools, Martine; Darendeliler, Feyza; Drop, Stenvert; Ellaithi, Mona; Guran, Tulay; Hiort, Olaf; Holterhus, Paul-Martin; Hughes, Ieuan; Krone, Nils; Lisa, Lidka; Morel, Yves; Soder, Olle; Wieacker, Peter; Ahmed, S Faisal

2014-02-01

The focus of care in disorders of sex development (DSD) is often directed to issues related to sex and gender development. In addition, the molecular etiology remains unclear in the majority of cases. To report the range of associated conditions identified in the international DSD (I-DSD) Registry. Anonymized data were extracted from the I-DSD Registry for diagnosis, karyotype, sex of rearing, genetic investigations, and associated anomalies. If necessary, clarification was sought from the reporting clinician. Of 649 accessible cases, associated conditions occurred in 168 (26%); 103 (61%) cases had one condition, 31 (18%) had two conditions, 20 (12%) had three conditions, and 14 (8%) had four or more conditions. Karyotypes with most frequently reported associations included 45,X with 6 of 8 affected cases (75%), 45,X/46,XY with 19 of 42 cases (45%), 46,XY with 112 of 460 cases (24%), and 46,XX with 27 of 121 cases (22%). In the 112 cases of 46,XY DSD, the commonest conditions included small for gestational age in 26 (23%), cardiac anomalies in 22 (20%), and central nervous system disorders in 22 (20%), whereas in the 27 cases of 46,XX DSD, skeletal and renal anomalies were commonest at 12 (44%) and 8 (30%), respectively. Of 170 cases of suspected androgen insensitivity syndrome, 19 (11%) had reported anomalies and 9 of these had confirmed androgen receptor mutations. Over a quarter of the cases in the I-DSD Registry have an additional condition. These associations can direct investigators toward novel genetic etiology and also highlight the need for more holistic care of the affected person.

GATA4 Variants in Individuals With a 46,XY Disorder of Sex Development (DSD) May or May Not Be Associated With Cardiac Defects Depending on Second Hits in Other DSD Genes.

PubMed

Martinez de LaPiscina, Idoia; de Mingo, Carmen; Riedl, Stefan; Rodriguez, Amaia; Pandey, Amit V; Fernández-Cancio, Mónica; Camats, Nuria; Sinclair, Andrew; Castaño, Luis; Audi, Laura; Flück, Christa E

2018-01-01

Disorders of sex development (DSD) consist of a wide range of conditions involving numerous genes. Nevertheless, about half of 46,XY individuals remain genetically unsolved. GATA4 gene variants, mainly related to congenital heart defects (CHD), have also been recently associated with 46,XY DSD. In this study, we characterized three individuals presenting with 46,XY DSD with or without CHD and GATA4 variants in order to understand the phenotypical variability. We studied one patient presenting CHD and 46,XY gonadal dysgenesis, and two patients with a history of genetically unsolved 46,XY DSD, also known as male primary hypogonadism. Mutation analysis was carried out by candidate gene approach or targeted gene panel sequencing. Functional activity of GATA4 variants was tested in vitro on the CYP17 promoter involved in sex development using JEG3 cells. We found two novel and one previously described GATA4 variants located in the N-terminal zinc finger domain of the protein. Cys238Arg variant lost transcriptional activity on the CYP17 promoter reporter, while Trp228Cys and Pro226Leu behaved similar to wild type. These results were in line with bioinformatics simulation studies. Additional DSD variations, in the LRP4 and LHCGR genes, respectively, were identified in the two 46,XY individuals without CHD. Overall, our study shows that human GATA4 mutations identified in patients with 46,XY DSD may or may not be associated with CHD. Possible explanations for phenotypical variability may comprise incomplete penetrance, variable sensitivity of partner genes, and oligogenic mechanisms.

GATA4 Variants in Individuals With a 46,XY Disorder of Sex Development (DSD) May or May Not Be Associated With Cardiac Defects Depending on Second Hits in Other DSD Genes

PubMed Central

Martinez de LaPiscina, Idoia; de Mingo, Carmen; Riedl, Stefan; Rodriguez, Amaia; Pandey, Amit V.; Fernández-Cancio, Mónica; Camats, Nuria; Sinclair, Andrew; Castaño, Luis; Audi, Laura; Flück, Christa E.

2018-01-01

Disorders of sex development (DSD) consist of a wide range of conditions involving numerous genes. Nevertheless, about half of 46,XY individuals remain genetically unsolved. GATA4 gene variants, mainly related to congenital heart defects (CHD), have also been recently associated with 46,XY DSD. In this study, we characterized three individuals presenting with 46,XY DSD with or without CHD and GATA4 variants in order to understand the phenotypical variability. We studied one patient presenting CHD and 46,XY gonadal dysgenesis, and two patients with a history of genetically unsolved 46,XY DSD, also known as male primary hypogonadism. Mutation analysis was carried out by candidate gene approach or targeted gene panel sequencing. Functional activity of GATA4 variants was tested in vitro on the CYP17 promoter involved in sex development using JEG3 cells. We found two novel and one previously described GATA4 variants located in the N-terminal zinc finger domain of the protein. Cys238Arg variant lost transcriptional activity on the CYP17 promoter reporter, while Trp228Cys and Pro226Leu behaved similar to wild type. These results were in line with bioinformatics simulation studies. Additional DSD variations, in the LRP4 and LHCGR genes, respectively, were identified in the two 46,XY individuals without CHD. Overall, our study shows that human GATA4 mutations identified in patients with 46,XY DSD may or may not be associated with CHD. Possible explanations for phenotypical variability may comprise incomplete penetrance, variable sensitivity of partner genes, and oligogenic mechanisms. PMID:29670578

Thalassiella azotovora gen. nov., sp. nov., a New Member of the Family Kineosporiaceae Isolated from Sea Water in South Korea.

PubMed

Lee, Dongwook; Jang, Jun Hyeong; Cha, Seho; Seo, Taegun

2016-11-01

A gram-positive, nonmotile, rod-shaped, nonflagellated, aerobic bacterium, designated strain DSD2(T) was isolated from a seawater sample from Sadong wharf, Ulleung-Island, South Korea. Strain DSD2(T) was found to be able to grow at pH ranging from 6 to 11 (optimum 7-8), 0-7 % (w/v) NaCl (optimum 0 %), at 10-42 °C (optimum 37 °C). 16S rRNA gene sequence analysis revealed that strain DSD2(T) was 95.8 % similar to the type strain of Kineosporia rhamnosa KACC 15195(T), 95.8 % similar to Angustibacter aerolatus KACC 15527(T), and 95.5 % similar to Kineococcus xinjiangensis KCTC 19474(T) as its closest relatives. A neighbor-joining phylogenetic tree based on the 16S rRNA gene sequence showed that strain DSD2(T) related to Micrococcineae and Kineosporiineae suborder clade. The major polar lipids were phosphoglycolipids and phospholipids. Strain DSD2(T) was found to contain MK-8 (H2) and MK-9 (H4) as the predominant menaquinone and iso-C16:0 as the major fatty acid. The isolate contained meso-diaminopimelic acid (meso-A2pm) with alanine, glutamic acid, and glycine as the diagnostic diamino acid. The DNA G+C content of strain DSD2(T) was 73.2 mol%. On the basis of phylogenetic, biochemical, chemotaxonomic, and other physiological characteristics, strain DSD2(T) is assigned to a novel species of a novel genus within the suborder Kineosporiineae and the name Thalassiella azotovora gen nov., sp. nov., is proposed. The type strain is DSD2(T) (= KCTC 39634(T) = JCM 31134(T)).

Global application of disorders of sex development-related electronic resources: e-learning, e-consultation and e-information sharing.

PubMed

Muscarella, Miriam; Kranenburg-van Koppen, Laura; Grijpink-van den Biggelaar, Kalinka; Drop, Stenvert L S

2014-01-01

The past 20 years have seen proliferation of electronic (e) resources that promote improved understanding of disorders of sex development (DSD): e-learning for physicians and trainees, e-consultation between clinicians, and e-information for families and affected individuals. Recent e-learning advances have emerged from the European Society for Pediatric Endocrinology's online learning portal for current physicians and trainees. Developed with attention to developing clinical competencies incorporating learning theory, and presenting material that represents international best practice, this e-learning portal offers advances in training, making information more accessible for clinicians and trainees. Multiple levels of instruction, authentic case examples, collaborative forums for physicians and trainees, individualized feedback and user-friendly tools represent advances in trainee and physician learning that can take place in any location. e-consultation is an emerging tool that aims to connect physicians with specialists experienced in DSD care. Although it faces logistical challenges, e-consultation carries the potential to improve DSD care, especially in remote areas with limited access to DSD specialists. e-information for families and patients of all ages is widely accessible online, often with focus on DSD biology, medical care, and psychological and social support. e-information tools aid self-management and support of those affected by DSD. Efforts to improve these resources should aim to map information to individual users, incorporate optimally clear nomenclature, and continue as a 'shared enterprise' of clinicians, affected individuals, families and researchers. Improving the quality of DSD-related e-learning and e-information and developing e-consultation carries the potential to transform DSD care and support for patients, families and physicians worldwide. © 2014 S. Karger AG, Basel.

Psychosocial well-being in Dutch adults with disorders of sex development.

PubMed

de Neve-Enthoven, Nita G M; Callens, Nina; van Kuyk, Maaike; van Kuppenveld, Jet H; Drop, Stenvert L S; Cohen-Kettenis, Peggy T; Dessens, Arianne B

2016-04-01

Atypical sex development is associated with psychosocial vulnerability. We investigated psychosocial well-being in individuals with disorders of sex development (DSD) and hypothesized that psychosocial well-being was related to degree of genital atypicality at birth. 120 male (n=16) and female (n=104) persons with DSD, aged 14-60 years, participated in a follow-up audit on psychosocial well-being. They were stratified in: women with 1) 46,XY and female genitalia, 2) 46,XY or 46,XX and atypical genitalia, and 3) men with 46,XY and atypical genitalia. We used the Illness Cognition Questionnaire (ICQ), Checklist Individual Strength (CIS8R), TNO-AZL Quality of Life questionnaire (TAAQOL), Adult Self-Report (ASR), and the Rosenberg Self-Esteem Scale (RSES). Data were compared to reference groups. Participants generally were coping well with DSD (ICQ). Women with DSD reported elevated levels of fatigue (CIS8R) and slightly more attention and memory problems (TAAQOL, ASR). Women with atypical genitalia reported more emotional and behavioral problems. On the ASR Rule-breaking Behavior and Antisocial Personality scales, these women had similar scores as reference men. Women with DSD reported a higher self-esteem (RSES). No differences in psychosocial well-being were found between men with DSD and reference men. Individuals with DSD across all diagnostic groups generally reported a good psychosocial well-being. The results further suggest involvement of prenatal androgens in the development of personality traits related to assertiveness and egocentricity. We recommend that individuals with a DSD and their families are involved in decision-making processes and have access to multidisciplinary care. Copyright © 2016 Elsevier Inc. All rights reserved.

A Summary of Precipitation Characteristics from the 2006–11 Northern Australian Wet Seasons as Revealed by ARM Disdrometer Research Facilities (Darwin, Australia)

DOE PAGES

Giangrande, Scott E.; Bartholomew, Mary Jane; Pope, Mick; ...

2014-05-09

The variability of rainfall and drop size distributions (DSDs) as a function of large-scale atmospheric conditions and storm characteristics is investigated using measurements from the Atmospheric Radiation Measurement (ARM) program facility at Darwin, Australia. Observations are obtained from an impact disdrometer with a near continuous record of operation over five consecutive wet seasons (2006-2011). We partition bulk rainfall characteristics according to diurnal accumulation, convective and stratiform precipitation classifications, objective monsoonal regime and MJO phase. Our findings support previous Darwin studies suggesting a significant diurnal and DSD parameter signal associated with both convective-stratiform and wet season monsoonal regime classification. Negligible MJOmore » phase influence is determined for cumulative disdrometric statistics over the Darwin location.« less

Psychosocial implications of disorders of sex development treatment for parents.

PubMed

Wisniewski, Amy B

2017-01-01

Historically, studies of caregivers of children with disorders of sex development (DSD) have been limited. Recent data reveal that parents of young children with DSD report increased stress, anxiety, depression, and decreased quality of life in ways that are similar to parents of children with other types of chronic illnesses. Also similar to other chronic illnesses of childhood, parents of children with DSD exhibit overprotective parenting and perceive their child as being vulnerable. These emotions and behaviors exhibited by parents are concerning as they may limit an affected child's emotional and social development over time. Perhaps, more unique to the situation of DSD is the perceived, or real, child-focused stigma experienced by parents of children with DSD. Interventions to improve parents' psychosocial adaptation to their child's medical condition, including coaching in how to discuss their child's condition in a manner that makes them feel safe and supported, are needed to optimize outcomes for families.

Gonadal and Sex Differentiation Abnormalities of Dogs and Cats

PubMed Central

Meyers-Wallen, V.N.

2012-01-01

The molecular steps in normal sexual development were largely discovered by studying patients and animal models with disorders of sexual development (DSD). Although several types of DSD have been reported in the cat and dog, which are often strikingly similar to human DSD, these have been infrequently utilized to contribute to our knowledge of mammalian sexual development. Canine and feline cases of DSD with sufficient evidence to be considered as potential models are summarized in this report. The consensus DSD terminology, and reference to previous terminology, is used to foster adoption of a common nomenclature that will facilitate communication and collaboration between veterinarians, physicians, and researchers. To efficiently utilize these unique resources as molecular tools continue to improve, it will be helpful to deposit samples from valuable cases into repositories where they are available to contribute to our understanding of sexual development, and thus improve human and animal health. PMID:22005097

Gender identity outcomes in children with disorders/differences of sex development: Predictive factors.

PubMed

Bakula, Dana M; Mullins, Alexandria J; Sharkey, Christina M; Wolfe-Christensen, Cortney; Mullins, Larry L; Wisniewski, Amy B

2017-06-01

Disorders/differences of sex development (DSD) comprise multiple congenital conditions in which chromosomal, gonadal, and/or anatomical sex are discordant. The prediction of future gender identity (i.e., self-identifying as male, female, or other) in children with DSD can be imprecise, and current knowledge about the development of gender identity in people with, and without DSD, is limited. However, sex of rearing is the strongest predictor of gender identity for the majority of individuals with various DSD conditions. When making decisions regarding sex of rearing biological factors (e.g., possession of a Y chromosome, degree and duration of pre- and postnatal androgen exposure, phenotypic presentation of the external genitalia, and fertility potential), social and cultural factors, as well as quality of life should be considered. Information on gender identity outcomes across a range of DSD diagnoses is presented to aid in sex of rearing assignment. Copyright © 2017 Elsevier Inc. All rights reserved.

DOE Office of Scientific and Technical Information (OSTI.GOV)

Vila, Fernando D.; Rehr, John J.; Nuzzo, Ralph G.

Supported Pt nanocatalysts generally exhibit anomalous behavior, including negative thermal expansion and large structural disorder. Finite temperature DFT/MD simulations reproduce these properties, showing that they are largely explained by a combination of thermal vibrations and low-frequency disorder. We show in this paper that a full interpretation is more complex and that the DFT/MD mean-square relative displacements (MSRD) can be further separated into vibrational disorder, “dynamic structural disorder” (DSD), and long-time equilibrium fluctuations of the structure dubbed “anomalous structural disorder” (ASD). We find that the vibrational and DSD components behave normally, increasing linearly with temperature while the ASD decreases, reflecting themore » evolution of mean nanoparticle geometry. Finally, as a consequence the usual procedure of fitting the MSRD to normal vibrations plus temperature-independent static disorder results in unphysical bond strengths and Grüneisen parameters.« less

Methylation Patterns of SOX3, SOX9, and WNT4 Genes in Gonads of Dogs with XX (SRY-Negative) Disorder of Sexual Development.

PubMed

Salamon, Sylwia; Flisikowski, Krzysztof; Switonski, Marek

2017-01-01

Ovotesticular or testicular disorder of sexual development in dogs with female karyotype and lack of SRY (XX DSD) is a common sexual anomaly diagnosed in numerous breeds. The molecular background, however, remains unclear, and epigenetic mechanisms, including DNA methylation, have not been studied. The aim of our study was comparative methylation analysis of CpG islands in promoters of candidate genes for XX DSD: SOX9, SOX3, and WNT4. Methylation studies were performed on DNA extracted from formalin-fixed/paraffin-embedded or frozen gonads from 2 dogs with ovotesticular and 2 dogs with testicular XX DSD as well as control females (n = 4) and males (n = 2). Bisulfite-converted DNA was used for CpG methylation analysis using quantitative pyrosequencing. Promoter regions of SOX9 and WNT4 showed similar CpG methylation in each group, ranging from 0 to 5.5% and from 39 to 74%, respectively. The SOX3 promoter showed significantly higher methylation in the ovotesticular XX DSD cases and the testicular XX DSD and control males, suggesting that SOX3 methylation may play a role in canine XX DSD pathogenesis. © 2017 S. Karger AG, Basel.

Developing a Multidisciplinary Team for Disorders of Sex Development: Planning, Implementation, and Operation Tools for Care Providers

PubMed Central

Moran, Mary Elizabeth; Karkazis, Katrina

2012-01-01

In the treatment of patients with disorders of sex development (DSD), multidisciplinary teams (MDTs) represent a new standard of care. While DSDs are too complex for care to be delivered effectively without specialized team management, these conditions are often considered to be too rare for their medical management to be a hospital priority. Many specialists involved in DSD care want to create a clinic or team, but there is no available guidance that bridges the gap between a group of like-minded DSD providers who want to improve care and the formation of a functional MDT. This is an important dilemma, and one with serious implications for the future of DSD care. If a network of multidisciplinary DSD teams is to be a reality, those directly involved in DSD care must be given the necessary program planning and team implementation tools. This paper offers a protocol and set of tools to meet this need. We present a 6-step process to team formation, and a sample set of tools that can be used to guide, develop, and evaluate a team throughout the course of its operation. PMID:22792098

Disorders of sexual development and associated changes in the pituitary-gonadal axis in dogs.

PubMed

Buijtels, J J C W M; de Gier, J; Kooistra, H S; Grinwis, G C M; Naan, E C; Zijlstra, C; Okkens, A C

2012-10-15

Normal sexual differentiation depends on completion of chromosomal sex determination, gonadal differentiation, and development of the phenotypic sex. An irregularity in any of these three steps can lead to a disorder in sexual development (DSD). We examined nine dogs with DSD by abdominal ultrasonography, laparotomy, histologic examination of the gonads, and reproductive tract, cytogenetic analysis, and mRNA expression of the SRY gene. We also determined the plasma concentrations of luteinizing hormone (LH), estradiol-17β, and testosterone before and after administration of gonadotropin-releasing hormone (GnRH) and compared these results with those obtained in anestrous bitches and male control dogs. The gonads of three dogs with DSD contained both testicular and ovarian tissue, while in the other six only testicular tissue was found. Each of the dogs had a uterus. Based on gynecologic examination, cytogenetic analysis, and the histology of the gonads, seven of the nine dogs appeared to be XX sex reversals. Three of these were XX true hermaphrodites and four were XX males; the other two dogs had incomplete XY gonadal dysgenesis. All seven XX sex-reversed dogs were found to be negative for the SRY gene by polymerase chain reaction. The basal plasma luteinizing hormone (LH) concentration was significantly higher in dogs with DSD than in anestrous bitches but not significantly different from that in male dogs. The basal plasma LH concentration increased significantly after GnRH administration in all dogs with DSD. The basal plasma estradiol concentration was significantly higher in dogs with DSD than in anestrous bitches but not significantly different from that in male dogs. The basal plasma testosterone concentration was lower in dogs with DSD than in male dogs. In all dogs with DSD both the basal and GnRH-induced plasma testosterone concentrations were above the upper limit of their respective ranges in the anestrous bitches. In conclusion, the secretion of LH and estradiol in these dogs with DSD, all of which had testicular tissue in their gonads, was similar to that in male control dogs. These results indicate that the basal and/or GnRH-stimulated plasma testosterone concentration might be used to detect the presence of testicular tissue in dogs with DSD. Copyright © 2012 Elsevier Inc. All rights reserved.

Gender Dysphoria and Gender Change in Disorders of Sex Development/Intersex Conditions: Results From the dsd-LIFE Study.

PubMed

Kreukels, Baudewijntje P C; Köhler, Birgit; Nordenström, Anna; Roehle, Robert; Thyen, Ute; Bouvattier, Claire; de Vries, Annelou L C; Cohen-Kettenis, Peggy T

2018-05-01

Information on the psychosexual outcome of individuals with disorders of sex development (DSDs) and intersex conditions is of great importance for sex assignment at birth of newborns with DSD. To assess gender change and gender dysphoria in a large sample of individuals with different DSDs. A cross-sectional study was conducted in 14 European centers with 1,040 participants (717 female-identifying and 311 male-identifying persons and 12 persons identifying with another gender) with different forms of DSD. The cohort (mean age = 32.36 years, SD = 13.57) was divided into 6 major subgroups: women with 45,X DSD and variants (Turner syndrome; n = 325), men with 47,XXY DSD and variants (Klinefelter syndrome; n = 219), women with XY DSD without androgen effects (n = 107) and with androgen effects (n = 63), men with XY DSD (n = 87), and women with 46,XX congenital adrenal hyperplasia (n = 221). Data on psychosexual outcome were gathered by medical interviews and questionnaires. Gender change and gender dysphoria. Although gender changes were reported by 5% of participants, only in 1% (3% if those with Klinefelter and Turner syndromes-conditions in which gender issues are not prominent-are excluded) did the gender change take place after puberty and was likely initiated by the patient. 39 participants (4%) reported gender variance: between male and female, a gender other than male or female, or gender queer, alternating gender roles, or a gender expression that differed from the reported gender. This group had lower self-esteem and more anxiety and depression than the other participants. Clinicians should be aware of and sensitive to the possibility that their patients with DSD not only might have transgender feelings and a desire to change gender, but also identify as different from male or female. The complexity of their feelings might require counseling for some patients. The study is unique in the large number of participants from many different clinics, with sizable numbers in most subgroups, and in the large number of aspects that were measured. However, the very broadness of the study made it impossible to focus in detail on gender issues. Also, there is a need for instruments specifically measuring gender dysphoria in individuals with DSD that take non-binary genders into account. To make appropriate gender care possible for people with DSD, the gender-normative and gender-variant development of children with DSD should be studied in longitudinal studies. Kreukels BPC, Köhler B, Nordenström A, et al. Gender Dysphoria and Gender Change in Disorders of Sex Development/Intersex Conditions: Results From the dsd-LIFE Study. J Sex Med 2018;15:777-785. Copyright © 2018 International Society for Sexual Medicine. Published by Elsevier Inc. All rights reserved.

Rain retrieval from dual-frequency radar Doppler spectra: validation and potential for a midlatitude precipitating case-study

DOE Office of Scientific and Technical Information (OSTI.GOV)

Tridon, F.; Battaglia, A.; Luke, E.

A recently developed technique retrieving the binned raindrop size distributions (DSDs) and air state parameters from ground-based K a and W-band radars Doppler spectra profiles is improved and applied to a typical midlatitude rain event. The retrievals are thoroughly validated against DSD observations of a 2D video disdrometer and independent X-band observations. Here for this case-study, profiles of rain rate, R, mean volume diameter and concentration parameter are retrieved, with low bias and standard deviations. In light rain (0.1 < R < 1 mm h -1), the radar reflectivities must be calibrated with a collocated disdrometer which introduces random errorsmore » due to sampling mismatch between the two instruments. The best performances are obtained in moderate rain (1 < R < 20 mm h -1) where the retrieval is providing self-consistent estimates of the absolute calibration and of the attenuation caused by antenna or radome wetness for both radars.« less

Rain retrieval from dual-frequency radar Doppler spectra: validation and potential for a midlatitude precipitating case-study

DOE PAGES

Tridon, F.; Battaglia, A.; Luke, E.; ...

2017-01-27

A recently developed technique retrieving the binned raindrop size distributions (DSDs) and air state parameters from ground-based K a and W-band radars Doppler spectra profiles is improved and applied to a typical midlatitude rain event. The retrievals are thoroughly validated against DSD observations of a 2D video disdrometer and independent X-band observations. Here for this case-study, profiles of rain rate, R, mean volume diameter and concentration parameter are retrieved, with low bias and standard deviations. In light rain (0.1 < R < 1 mm h -1), the radar reflectivities must be calibrated with a collocated disdrometer which introduces random errorsmore » due to sampling mismatch between the two instruments. The best performances are obtained in moderate rain (1 < R < 20 mm h -1) where the retrieval is providing self-consistent estimates of the absolute calibration and of the attenuation caused by antenna or radome wetness for both radars.« less

Drop Size Distribution - Based Separation of Stratiform and Convective Rain

NASA Technical Reports Server (NTRS)

Thurai, Merhala; Gatlin, Patrick; Williams, Christopher

2014-01-01

For applications in hydrology and meteorology, it is often desirable to separate regions of stratiform and convective rain from meteorological radar observations, both from ground-based polarimetric radars and from space-based dual frequency radars. In a previous study by Bringi et al. (2009), dual frequency profiler and dual polarization radar (C-POL) observations in Darwin, Australia, had shown that stratiform and convective rain could be separated in the log10(Nw) versus Do domain, where Do is the mean volume diameter and Nw is the scaling parameter which is proportional to the ratio of water content to the mass weighted mean diameter. Note, Nw and Do are two of the main drop size distribution (DSD) parameters. In a later study, Thurai et al (2010) confirmed that both the dual-frequency profiler based stratiform-convective rain separation and the C-POL radar based separation were consistent with each other. In this paper, we test this separation method using DSD measurements from a ground based 2D video disdrometer (2DVD), along with simultaneous observations from a collocated, vertically-pointing, X-band profiling radar (XPR). The measurements were made in Huntsville, Alabama. One-minute DSDs from 2DVD are used as input to an appropriate gamma fitting procedure to determine Nw and Do. The fitted parameters - after averaging over 3-minutes - are plotted against each other and compared with a predefined separation line. An index is used to determine how far the points lie from the separation line (as described in Thurai et al. 2010). Negative index values indicate stratiform rain and positive index indicate convective rain, and, moreover, points which lie somewhat close to the separation line are considered 'mixed' or 'transition' type precipitation. The XPR observations are used to evaluate/test the 2DVD data-based classification. A 'bright-band' detection algorithm was used to classify each vertical reflectivity profile as either stratiform or convective, depending on whether or not a clearly-defined melting layer is present at an expected height, and if present, maximum reflectivity within the melting layer as well as the corresponding height are determined. We will present results of quantitative comparisons between the XPR observations-based classifications and the simultaneous 2DVD data-based classifications. Time series comparisons will be presented for thirteen events in Huntsville.

A reactive and sensitive diffusion sampler for the determination of aldehydes and ketones in ambient air

NASA Astrophysics Data System (ADS)

Uchiyama, Shigehisa; Hasegawa, Shuji

We developed a diffusive sampling device (DSD-carbonyl) for organic carbonyl compounds (aldehydes and ketones) which is suitable for collection and analysis of low concentration levels. This sampling device is composed of three parts, an exposure part made of a porous polytetrafluoroethylene (PPTFE) tube, an analysis part made of polypropylene (PP) tubing and an absorbent part made of 2,4-dinitrophenylhydrazine (DNPH) coated silica gel (DNPH-silica). Aldehydes and ketones diffuse to the DSD-carbonyl through PPTFE-tube by the mechanism of molecular diffusion and react specifically with DNPH to form a stable DNPH-derivatives. Collection is controlled by moving the absorbent from the exposure part to the analysis part by changing the posture of the DSD-carbonyl. DNPH-derivatives were eluted from an analysis part of DSD-carbonyl with acetonitrile directly and analyzed by high performance liquid chromatography (HPLC). The advantages of the DSD-carbonyl are the following: (1) The DSD-carbonyl can be used in a wide range of concentration of aldehydes and ketones in atmosphere, as the DSD-carbonyl exposure part has a variable diffusion area, (2) DNPH-derivatives are eluted from DNPH-silica without contamination of air. (3) The sampler can be applied to active sampling by connecting it with a pump. The limit of detection (LOD) for concentrations of major aldehydes and ketones ranged from 0.072 to 0.13 ppb, and the limit of quantitation (LOQ) ranged from 0.24 to 0.42 ppb. The coefficient variation (CV) for concentrations of major aldehydes and ketones ranged from 2.5 to 3.0% in laboratory air. The DSD-carbonyl method and active sampling method (US EPA method IP-6A) showed a good correlation (formaldehyde, r2=0.995). The uptake rates for formaldehyde, acetaldehyde, and acetone were estimated as 0.078, 0.062 and 0.079 nmol ppb -1 h -1, respectively. It is possible to estimate atmospheric aldehydes and ketones at parts per billion (ppb), with high sensitivity and precision, by using DSD-carbonyl.

Improved estimation of heavy rainfall by weather radar after reflectivity correction and accounting for raindrop size distribution variability

NASA Astrophysics Data System (ADS)

Hazenberg, Pieter; Leijnse, Hidde; Uijlenhoet, Remko

2015-04-01

Between 25 and 27 August 2010 a long-duration mesoscale convective system was observed above the Netherlands, locally giving rise to rainfall accumulations exceeding 150 mm. Correctly measuring the amount of precipitation during such an extreme event is important, both from a hydrological and meteorological perspective. Unfortunately, the operational weather radar measurements were affected by multiple sources of error and only 30% of the precipitation observed by rain gauges was estimated. Such an underestimation of heavy rainfall, albeit generally less strong than in this extreme case, is typical for operational weather radar in The Netherlands. In general weather radar measurement errors can be subdivided into two groups: (1) errors affecting the volumetric reflectivity measurements (e.g. ground clutter, radar calibration, vertical profile of reflectivity) and (2) errors resulting from variations in the raindrop size distribution that in turn result in incorrect rainfall intensity and attenuation estimates from observed reflectivity measurements. A stepwise procedure to correct for the first group of errors leads to large improvements in the quality of the estimated precipitation, increasing the radar rainfall accumulations to about 65% of those observed by gauges. To correct for the second group of errors, a coherent method is presented linking the parameters of the radar reflectivity-rain rate (Z-R) and radar reflectivity-specific attenuation (Z-k) relationships to the normalized drop size distribution (DSD). Two different procedures were applied. First, normalized DSD parameters for the whole event and for each precipitation type separately (convective, stratiform and undefined) were obtained using local disdrometer observations. Second, 10,000 randomly generated plausible normalized drop size distributions were used for rainfall estimation, to evaluate whether this Monte Carlo method would improve the quality of weather radar rainfall products. Using the disdrometer information, the best results were obtained in case no differentiation between precipitation type (convective, stratiform and undefined) was made, increasing the event accumulations to more than 80% of those observed by gauges. For the randomly optimized procedure, radar precipitation estimates further improve and closely resemble observations in case one differentiates between precipitation type. However, the optimal parameter sets are very different from those derived from disdrometer observations. It is therefore questionable if single disdrometer observations are suitable for large-scale quantitative precipitation estimation, especially if the disdrometer is located relatively far away from the main rain event, which was the case in this study. In conclusion, this study shows the benefit of applying detailed error correction methods to improve the quality of the weather radar product, but also confirms the need to be cautious using locally obtained disdrometer measurements.

The impact of reflectivity correction and accounting for raindrop size distribution variability to improve precipitation estimation by weather radar for an extreme low-land mesoscale convective system

NASA Astrophysics Data System (ADS)

Hazenberg, Pieter; Leijnse, Hidde; Uijlenhoet, Remko

2014-11-01

Between 25 and 27 August 2010 a long-duration mesoscale convective system was observed above the Netherlands, locally giving rise to rainfall accumulations exceeding 150 mm. Correctly measuring the amount of precipitation during such an extreme event is important, both from a hydrological and meteorological perspective. Unfortunately, the operational weather radar measurements were affected by multiple sources of error and only 30% of the precipitation observed by rain gauges was estimated. Such an underestimation of heavy rainfall, albeit generally less strong than in this extreme case, is typical for operational weather radar in The Netherlands. In general weather radar measurement errors can be subdivided into two groups: (1) errors affecting the volumetric reflectivity measurements (e.g. ground clutter, radar calibration, vertical profile of reflectivity) and (2) errors resulting from variations in the raindrop size distribution that in turn result in incorrect rainfall intensity and attenuation estimates from observed reflectivity measurements. A stepwise procedure to correct for the first group of errors leads to large improvements in the quality of the estimated precipitation, increasing the radar rainfall accumulations to about 65% of those observed by gauges. To correct for the second group of errors, a coherent method is presented linking the parameters of the radar reflectivity-rain rate (Z - R) and radar reflectivity-specific attenuation (Z - k) relationships to the normalized drop size distribution (DSD). Two different procedures were applied. First, normalized DSD parameters for the whole event and for each precipitation type separately (convective, stratiform and undefined) were obtained using local disdrometer observations. Second, 10,000 randomly generated plausible normalized drop size distributions were used for rainfall estimation, to evaluate whether this Monte Carlo method would improve the quality of weather radar rainfall products. Using the disdrometer information, the best results were obtained in case no differentiation between precipitation type (convective, stratiform and undefined) was made, increasing the event accumulations to more than 80% of those observed by gauges. For the randomly optimized procedure, radar precipitation estimates further improve and closely resemble observations in case one differentiates between precipitation type. However, the optimal parameter sets are very different from those derived from disdrometer observations. It is therefore questionable if single disdrometer observations are suitable for large-scale quantitative precipitation estimation, especially if the disdrometer is located relatively far away from the main rain event, which was the case in this study. In conclusion, this study shows the benefit of applying detailed error correction methods to improve the quality of the weather radar product, but also confirms the need to be cautious using locally obtained disdrometer measurements.

[Disorders of sex development and proximal hypospadias].

PubMed

Oswald, J

2016-01-01

Children with ambiguous genitalia due to different chromosome or gonadal sex are a particular challenge concerning the diagnostic and therapeutic implications. Proximal hypospadias patients with normal gonadal development should be distinguished from children with DSD (disorders of sex development) to guarantee normal gender identity and the best possible surgical therapy. This paper focuses on the terminology, embryology, and pathophysiology of the different manifestations of DSD. The state of knowledge about this disease pattern with particular emphasis on proximal hypospadias based on national and international scientific discussions is presented. The different clinical pictures as well as therapeutic options of DSD with a special focus on recent literature and giving particular attention to patients with proximal hypospadias are presented. Because of the complexity of patients suffering from disorders of sex development an interdisciplinary DSD healthcare team including a paediatric endocrinologist as well as paediatric urologist should be provided. These specialists enable an accurate diagnosis in severe hypospadias patients without reference to DSD diseases patterns.

Evolution of drop size distribution in natural rain

NASA Astrophysics Data System (ADS)

D'Adderio, Leo Pio; Porcù, Federico; Tokay, Ali

2018-02-01

Both numerical modeling and laboratory experiments document the possibility of a raindrop size distribution (DSD) to evolve to an equilibrium stage (EDSD), where all the principal processes occur at steady rates. The aim of this work is to observe the temporal behavior of the DSD and to directly investigate the conditions favorable to the onset of the EDSD in natural rain. We exploited a large disdrometer dataset collected in the framework of the Ground Validation activities related to the NASA Global Precipitation Measurement mission. More than 200,000 one-minute data of two-dimensional video disdrometer (2DVD) are collected over USA to represent a wide range of precipitation types. The original data are averaged over 2 min and an automatic algorithm is used on a selected subset to identify samples with EDSD. Results show that the EDSD occurs mainly in convective events and lasts for very short time intervals (2 to 4 min). It is more frequent for rain rate between 20 and 40 mm h- 1 and it mostly occurs during sharp increase of precipitation rates.

Impact of Uncertainty in the Drop Size Distribution on Oceanic Rainfall Retrievals From Passive Microwave Observations

NASA Technical Reports Server (NTRS)

Wilheit, Thomas T.; Chandrasekar, V.; Li, Wanyu

2007-01-01

The variability of the drop size distribution (DSD) is one of the factors that must be considered in understanding the uncertainties in the retrieval of oceanic precipitation from passive microwave observations. Here, we have used observations from the Precipitation Radar on the Tropical Rainfall Measuring Mission spacecraft to infer the relationship between the DSD and the rain rate and the variability in this relationship. The impact on passive microwave rain rate retrievals varies with the frequency and rain rate. The total uncertainty for a given pixel can be slightly larger than 10% at the low end (ca. 10 GHz) of frequencies commonly used for this purpose and smaller at higher frequencies (up to 37 GHz). Since the error is not totally random, averaging many pixels, as in a monthly rainfall total, should roughly halve this uncertainty. The uncertainty may be lower at rain rates less than about 30 mm/h, but the lack of sensitivity of the surface reference technique to low rain rates makes it impossible to tell from the present data set.

Anomalous Structural Disorder in Supported Pt Nanoparticles

DOE PAGES

Vila, Fernando D.; Rehr, John J.; Nuzzo, Ralph G.; ...

2017-07-02

Supported Pt nanocatalysts generally exhibit anomalous behavior, including negative thermal expansion and large structural disorder. Finite temperature DFT/MD simulations reproduce these properties, showing that they are largely explained by a combination of thermal vibrations and low-frequency disorder. We show in this paper that a full interpretation is more complex and that the DFT/MD mean-square relative displacements (MSRD) can be further separated into vibrational disorder, “dynamic structural disorder” (DSD), and long-time equilibrium fluctuations of the structure dubbed “anomalous structural disorder” (ASD). We find that the vibrational and DSD components behave normally, increasing linearly with temperature while the ASD decreases, reflecting themore » evolution of mean nanoparticle geometry. Finally, as a consequence the usual procedure of fitting the MSRD to normal vibrations plus temperature-independent static disorder results in unphysical bond strengths and Grüneisen parameters.« less

Gender identity, gender assignment and reassignment in individuals with disorders of sex development: a major of dilemma.

PubMed

Fisher, A D; Ristori, J; Fanni, E; Castellini, G; Forti, G; Maggi, M

2016-11-01

Disorders of Sex Development (DSD) are a wide range of congenital conditions characterized by an incongruence of components involved in sexual differentiation, including gender psychosexual development. The management of such disorders is complex, and one of the most crucial decision is represented by gender assignment. In fact, the primary goal in DSD is to have a gender assignment consistent with the underlying gender identity in order to prevent the distress related to a forthcoming Gender Dysphoria. Historically, gender assignment was based essentially on surgical outcomes, assuming the neutrality of gender identity at birth. This policy has been challenged in the past decade refocusing on the importance of prenatal and postnatal hormonal and genetic influences on psychosexual development. (1) to update the main psychological and medical issues that surround DSD, in particular regarding gender identity and gender assignment; (2) to report specific clinical recommendations according to the different diagnosis. A systematic search of published evidence was performed using Medline (from 1972 to March 2016). Review of the relevant literature and recommendations was based on authors' expertise. A review of gender identity and assignment in DSD is provided as well as clinical recommendations for the management of individuals with DSD. Given the complexity of this management, DSD individuals and their families need to be supported by a specialized multidisciplinary team, which has been universally recognized as the best practice for intersexual conditions. In case of juvenile GD in DSD, the prescription of gonadotropin-releasing hormone analogues, following the World Professional Association for Transgender Health and the Endocrine Society guidelines, should be considered. It should always be taken into account that every DSD person is unique and has to be treated with individualized care. In this perspective, international registries are crucial to improve the understanding of these challenging conditions and clinical practice, in providing a better prediction of gender identity.

Prevalence of c-KIT Mutations in Gonadoblastoma and Dysgerminomas of Patients with Disorders of Sex Development (DSD) and Ovarian Dysgerminomas

PubMed Central

Hersmus, Remko; Stoop, Hans; van de Geijn, Gert Jan; Eini, Ronak; Biermann, Katharina; Oosterhuis, J. Wolter; DHooge, Catharina; Schneider, Dominik T.; Meijssen, Isabelle C.; Dinjens, Winand N. M.; Dubbink, Hendrikus Jan; Drop, Stenvert L. S.; Looijenga, Leendert H. J.

2012-01-01

Activating c-KIT mutations (exons 11 and 17) are found in 10–40% of testicular seminomas, the majority being missense point mutations (codon 816). Malignant ovarian dysgerminomas represent ∼3% of all ovarian cancers in Western countries, resembling testicular seminomas, regarding chromosomal aberrations and c-KIT mutations. DSD patients with specific Y-sequences have an increased risk for Type II Germ Cell Tumor/Cancer, with gonadoblastoma as precursor progressing to dysgerminoma. Here we present analysis of c-KIT exon 8, 9, 11, 13 and 17, and PDGFRA exon 12, 14 and 18 by conventional sequencing together with mutational analysis of c-KIT codon 816 by a sensitive and specific LightCycler melting curve analysis, confirmed by sequencing. The results are combined with data on TSPY and OCT3/4 expression in a series of 16 DSD patients presenting with gonadoblastoma and dysgerminoma and 15 patients presenting pure ovarian dysgerminomas without DSD. c-KIT codon 816 mutations were detected in five out of the total of 31 cases (all found in pure ovarian dysgerminomas). A synonymous SNP (rs 5578615) was detected in two patients, one DSD patient (with bilateral disease) and one patient with dysgerminoma. Next to these, three codon N822K mutations were detected in the group of 15 pure ovarian dysgerminomas. In total activating c-KIT mutations were found in 53% of ovarian dysgerminomas without DSD. In the group of 16 DSD cases a N505I and D820E mutation was found in a single tumor of a patient with gonadoblastoma and dysgerminoma. No PDGFRA mutations were found. Positive OCT3/4 staining was present in all gonadoblastomas and dysgerminomas investigated, TSPY expression was only seen in the gonadoblastoma/dysgerminoma lesions of the 16 DSD patients. This data supports the existence of two distinct but parallel pathways in the development of dysgerminoma, in which mutational status of c-KIT might parallel the presence of TSPY. PMID:22937135

AB020. Chromosome rearrangement in patients with 46,XY disorders of sex development

PubMed Central

Vu, Dung Chi; Nguyen, Khanh Ngoc; Can, Ngoc Bich; Bui, Thao Phuong; Fukami, Maki

2017-01-01

Background Disorders of sex development (DSD) is defined by congenital conditions in which development of chromosomal, gonadal, or anatomical sex is atypical. Causative mutations have not been identified in more than 50% 46,XY DSD cases. We aimed to identify chromosomal rearrangement in the development of 46,XY DSD in Vietnamese patients. Methods Case series report including clinical presentations and data from array-based comparative genomic hybridization analysis for six genetic males with genital abnormalities combines with mental disability and other congenital anomalies. Results Heterozygous submicroscopic deletions and/or duplications were identified in six cases. A 7.2 Mb terminal deletion at chromosome 9 including deletion of DMRT1 gene and a 2.7 Mb terminal duplication at chromosome 17 were detected in case 1 that presented with prematurity, dysmorphism and ambiguous genitalia. A terminal deletion affects DMRT1-3 at 9p22-23 was identified in case 2 with ambiguous genitalia, mental disability and dysmorphism. An 18 Mb terminal duplication at chromosome 5 was detected in case 3 with DSD, growth retardation, microcephaly and dysmorphism, ptosis, ventricular septal defect and craniosynostosis. An interstitial deletion including deletions of WT1, PAX6, and PRRG4 genes at chromosome 11 was detected in case 4 with WAGR syndrome. A terminal duplication at chromosome 7 was detected in case 5 with DSD, severe hypospadias, small phallus size (1 cm at 3 years of age), and no testis found clinically. A 5 Mb terminal deletion at chromosome 4 and a 6 Mb terminal duplication of chromosome 16 were detected in case 6 with severe motor-mental retardation, microcephaly (head circumference −3.5 SD), micrognathia, and DSD. Conclusions The results indicate that chromosomal rearrangements constitute an important part of the molecular bases of 46,XY DSD and that submicroscopic deletions and/or duplication can lead to various types of 46,XY DSD combined with other congenital anomalies and/or mental disability.

Drop Size Distribution Measurements Supporting the NASA Global Precipitation Measurement Mission: Infrastructure and Preliminary Results

NASA Technical Reports Server (NTRS)

Petersen, Walter A.; Carey, Lawerence D.; Gatlin, Patrick N.; Wingo, Matthew; Tokay, Ali; Wolff, David B.; Bringi, V. N.

2011-01-01

Global Precipitation Measurement Mission (GPM) retrieval algorithm validation requires datasets that characterize the 4-D structure, variability, and correlation properties of hydrometeor particle size distributions (PSD) and accumulations over satellite fields of view (5 -- 50 km). Key to this process is the combined use of disdrometer and polarimetric radar platforms. Here the disdrometer measurements serve as a reference for up-scaling dual-polarimetric radar observations of the PSD to the much larger volumetric sampling domain of the radar. The PSD observations thus derived provide a much larger data set for assessing DSD variability, and satellite-based precipitation retrieval algorithm assumptions, in all three spatial dimensions for a range of storm types and seasons. As one component of this effort, the GPM Ground Validation program recently acquired five 3rd generation 2D Video disdrometers as part of its Disdrometer and Radar Observations of Precipitation Facility (DROP), currently hosted in northern Alabama by the NASA Marshall Space Flight Center and the University of Alabama in Huntsville. These next-generation 2DVDs were operated and evaluated in different phases of data collection under the scanning domain of the UAH ARMOR C-band dual-polarimetric radar. During this period approximately 7500 minutes of PSD data were collected and processed to create gamma size distribution parameters using a truncated method of moments approach. After creating the gamma parameter datasets the DSDs were then used as input to T-matrix code for computation of polarimetric radar moments at C-band. The combined dataset was then analyzed with two basic objectives in mind: 1) the investigation of seasonal variability in the rain PSD parameters as observed by the 2DVDs; 2) the use of combined polarimetric moments and observed gamma distribution parameters in a functional form to retrieve PSD parameters in 4-D using the ARMOR radar for precipitation occurring in different seasons and for different rain system types. Preliminary results suggest that seasonal variations in the DSD parameters do occur, but are most pronounced when comparing tropical PSDs to either winter or summer convective precipitation. For example the previously documented shift to relatively smaller drop diameters in higher number concentrations for equivalent rain rate bins was observed in tropical storm rainbands occurring over Huntsville. On a more inter seasonal basis empirical fits between parameters such as D0 and ZDR do not appear to exhibit robust seasonal biases- i.e., one fit seems to work for all seasons within acceptable standard error (O[10%]) for estimates of D0. In polarimetric retrievals of the vertical variability in PSD (rain layer) for a tropical rainband we find that the Do varies with height when partitioned by specified precipitation categories (e.g., convective or stratiform, heavy and light stratiform etc.) but this variation is of order 10-20% and is smaller than the difference in D0 observed between the basic delineation of convective and stratiform precipitation types. Currently we are expanding our analysis of the vertical structure of the PSD to include several seasonally and/or dynamically-different storm system types (e.g., winter convection and stratiform events; summer mid-latitude convective etc.) sampled by ARMOR. The study will present the results of our combined analyses.

Fertility outcome and information on fertility issues in individuals with different forms of disorders of sex development: findings from the dsd-LIFE study.

PubMed

Słowikowska-Hilczer, Jolanta; Hirschberg, Angelica Lindén; Claahsen-van der Grinten, Hedi; Reisch, Nicole; Bouvattier, Claire; Thyen, Ute; Cohen Kettenis, Peggy; Roehle, Robert; Köhler, Birgit; Nordenström, Anna

2017-11-01

To investigate fertility outcome in individuals with different forms of disorders of sex development (DSD), if assisted reproductive technology (ART) was used, and the patients' satisfaction with the information they had received. A cross-sectional multicenter study, dsd-LIFE. Not applicable. A total of 1,040 patients aged ≥16 years with different DSD diagnoses participated. A web-based questionnaire was filled out by all participants. The participants could chose to take part in somatic investigations including ultrasonography. Information on partner, number of children, ART, adoption and step-children, general health, presence of gonads and uterus, current education and economic situation, received information on fertility issues, and satisfaction with the information, was collected. In the total cohort, mean age 32 years, 33% lived with a partner, but only 14% reported having at least one child including 7% with ART, 4% adopted. Only 3.5% of the total cohort had been able to reproduce without ART, most frequently women with congenital adrenal hyperplasia, and only 0.7% of participants with other diagnoses. Of the participants, 72% had received information on fertility, but 17% were not satisfied with the information. Fertility outcome is significantly reduced in all types of DSD; however, fertility potential should be assessed individually. The satisfaction with how fertility problems have been discussed can be improved. The care of patients with DSD is complex, should be individualized, and new treatment possibilities incorporated. A close collaboration in multidisciplinary teams is therefore essential to improve the situation for individuals with DSD. Copyright © 2017 American Society for Reproductive Medicine. Published by Elsevier Inc. All rights reserved.

Rare cases of disorders of sex development (DSD) in adolescents with female phenotype.

PubMed

Kristesashvili, Jenara; Chipashvili, Mariam; Jorbenadze, Teimuraz; Greydanus, Donald E

2012-01-01

Disorders of sex development (DSD) belong to uncommon pathologies; in addition, there are especially rare forms, such are ovotesticular disorders (OT), Turner syndrome and early malignisation of intraabdominal located gonads in the cases of androgen insensitivity syndrome. In this article we present four rare cases of DSD in female phenotype adolescents: two cases of ovotesticular DSD with 46,XX and 46,XY karyotypes; one familial case of androgen insensitivity syndrome (AIS) with early malignancy (19-year-old) of intra-abdominally-located testicle in older siblings, and a case of spontaneous menstruation in a patient with Turner syndrome and mosaic karyotype 45,X/47,XXX. Rare cases of DSD are connected with diagnostic and management difficulties and so description of each such case and collection of data in this field is very important from a scientific, as well as a practical, point of view. Determination of prognosis and adequate management of each individual patient are also essential. Study of this issue is especially sensitive in the case of adolescent patients in order to avoid physiological stress, to reduce health risks and to improve quality of life.

Characterization of tropical precipitation using drop size distribution and rain rate-radar reflectivity relation

NASA Astrophysics Data System (ADS)

Das, Saurabh; Maitra, Animesh

2018-04-01

Characterization of precipitation is important for proper interpretation of rain information from remotely sensed data. Rain attenuation and radar reflectivity (Z) depend directly on the drop size distribution (DSD). The relation between radar reflectivity/rain attenuation and rain rate (R) varies widely depending upon the origin, topography, and drop evolution mechanism and needs further understanding of the precipitation characteristics. The present work utilizes 2 years of concurrent measurements of DSD using a ground-based disdrometer at five diverse climatic conditions in Indian subcontinent and explores the possibility of rain classification based on microphysical characteristics of precipitation. It is observed that both gamma and lognormal distributions are performing almost similar for Indian region with a marginally better performance by one model than other depending upon the locations. It has also been found that shape-slope relationship of gamma distribution can be a good indicator of rain type. The Z-R relation, Z = ARb, is found to vary widely for different precipitation systems, with convective rain that has higher values of A than the stratiform rain for two locations, whereas the reverse is observed for the rest of the three locations. Further, the results indicate that the majority of rainfall (>50%) in Indian region is due to the convective rain although the occurrence time of convective rain is low (<10%).

Rain attenuation studies from radiometric and rain DSD measurements at two tropical locations

NASA Astrophysics Data System (ADS)

Halder, Tuhina; Adhikari, Arpita; Maitra, Animesh

2018-05-01

Efficient use of satellite communication in tropical regions demands proper characterization of rain attenuation, particularly, in view of the available popular propagation models which are mostly based on temperate climatic data. Thus rain attenuations at frequencies 22.234, 23.834 and 31.4/30 GHz over two tropical locations Kolkata (22.57°N, 88.36°E, India) and Belem (1.45°S, 48.49° W, Brazil), have been estimated for the year 2010 and 2011, respectively. The estimation has been done utilizing ground-based disdrometer observations and radiometric measurements over Earth-space path. The results show that rain attenuation estimations from radiometric data are reliable only at low rain rates (<30 mm/h). However, the rain attenuation estimations from disdrometer measurements show good agreement with the ITU-R model, even at high rain rates (upto100 mm/h). Despite having significant variability in terms of drop size distribution (DSD), the attenuation values calculated from DSD data (disdrometer measurements) at Kolkata and Belem differ a little for the rain rates below 30 mm/h. However, the attenuation values, obtained from radiometric measurements at the two places, show significant deviations ranging from 0.54 dB to 3.2 dB up to a rain rate of 30 mm/h, on account of different rain heights, mean atmospheric temperatures and climatology of the two locations.

Broad phenotypes in heterozygous NR5A1 46,XY patients with a disorder of sex development: an oligogenic origin?

PubMed

Camats, Núria; Fernández-Cancio, Mónica; Audí, Laura; Schaller, André; Flück, Christa E

2018-06-11

SF-1/NR5A1 is a transcriptional regulator of adrenal and gonadal development. NR5A1 disease-causing variants cause disorders of sex development (DSD) and adrenal failure, but most affected individuals show a broad DSD/reproductive phenotype only. Most NR5A1 variants show in vitro pathogenic effects, but not when tested in heterozygote state together with wild-type NR5A1 as usually seen in patients. Thus, the genotype-phenotype correlation for NR5A1 variants remains an unsolved question. We analyzed heterozygous 46,XY SF-1/NR5A1 patients by whole exome sequencing and used an algorithm for data analysis based on selected project-specific DSD- and SF-1-related genes. The variants detected were evaluated for their significance in literature, databases and checked in silico using webtools. We identified 19 potentially deleterious variants (one to seven per patient) in 18 genes in four 46,XY DSD subjects carrying heterozygous NR5A1 disease-causing variants. We constructed a scheme of all these hits within the landscape of currently known genes involved in male sex determination and differentiation. Our results suggest that the broad phenotype in these heterozygous NR5A1 46,XY DSD subjects may well be explained by an oligogenic mode of inheritance, in which multiple hits, individually non-deleterious, may contribute to a DSD phenotype unique to each heterozygous SF-1/NR5A1 individual.

A 46,XX Ovotesticular Disorder of Sex Development Likely Caused by a Steroidogenic Factor-1 (NR5A1) Variant.

PubMed

Swartz, Jonathan M; Ciarlo, Ryan; Guo, Michael H; Abrha, Aser; Weaver, Benjamin; Diamond, David A; Chan, Yee-Ming; Hirschhorn, Joel N

2017-01-01

A variant in steroidogenic factor-1 (SF-1, encoded by the gene NR5A1), p.Arg92Trp, has recently been reported in multiple families with 46,XX ovotesticular or testicular disorders of sex development (DSD). This amino acid change impacts the DNA-binding domain and perturbs gonadal differentiation pathways. Whole-exome sequencing was performed on a 46,XX subject with ovotesticular DSD. Exome results identified a heterozygous NR5A1 variant, p.Arg92Gln, in the 46,XX ovotesticular DSD proband. This arginine-to-glutamine change has been previously reported in the homozygous state in a 46,XY patient with gonadal and adrenal dysgenesis, though 46,XY and 46,XX heterozygous carriers of this variant have not been previously reported to have any clinical phenotype. The NR5A1 p.Arg92Gln variant, which has thus far only been seen in a family with 46,XY DSD, most likely contributes to the ovotesticular DSD in this case. In light of the recent reports of unrelated 46,XX subjects with testicular or ovotesticular DSD with the NR5A1 variant p.Arg92Trp, it appears that other mutations in the DNA binding domain have the potential to impact the factors determining testicular and ovarian differentiation. This case demonstrates the variability of phenotypes with the same genotype and broadens our understanding of the role of SF-1 in gonadal differentiation. © 2016 S. Karger AG, Basel.

A Korean boy with 46,XX testicular disorder of sex development caused by SOX9 duplication.

PubMed

Lee, Gyung Min; Ko, Jung Min; Shin, Choong Ho; Yang, Sei Won

2014-06-01

The 46,XX testicular disorder of sex development (DSD), also known as 46,XX male syndrome, is a rare form of DSD and clinical phenotype shows complete sex reversal from female to male. The sex-determining region Y (SRY) gene can be identified in most 46,XX testicular DSD patients; however, approximately 20% of patients with 46,XX testicular DSD are SRY-negative. The SRY-box 9 (SOX9) gene has several important functions during testis development and differentiation in males, and overexpression of SOX9 leads to the male development of 46,XX gonads in the absence of SRY. In addition, SOX9 duplication has been found to be a rare cause of 46,XX testicular DSD in humans. Here, we report a 4.2-year-old SRY-negative 46,XX boy with complete sex reversal caused by SOX9 duplication for the first time in Korea. He showed normal external and internal male genitalia except for small testes. Fluorescence in situ hybridization and polymerase chain reaction (PCR) analyses failed to detect the presence of SRY, and SOX9 intragenic mutation was not identified by direct sequencing analysis. Therefore, we performed real-time PCR analyses with specific primer pairs, and duplication of the SOX9 gene was revealed. Although SRY-negative 46,XX testicular DSD is a rare condition, an effort to make an accurate diagnosis is important for the provision of proper genetic counseling and for guiding patients in their long-term management.

Gender Development in Indonesian Children, Adolescents, and Adults with Disorders of Sex Development.

PubMed

Ediati, Annastasia; Juniarto, Achmad Zulfa; Birnie, Erwin; Drop, Stenvert L S; Faradz, Sultana M H; Dessens, Arianne B

2015-07-01

In most Western countries, clinical management of disorders of sex development (DSD), including ambiguous genitalia, begins at diagnosis soon after birth. For many Indonesian patients born with ambiguous genitalia, limited medical treatment is available. Consequently, affected individuals are raised with ambiguous genitalia and atypical secondary sex characteristics. We investigated gender identity and gender role behavior in 118 Indonesian subjects (77 males, 41 females) with different types of DSD in comparison with 118 healthy controls matched for gender, age, and residential setting (rural, suburban, or urban). In Study 1, we report on methodological aspects of the investigation, including scale adaptation, pilot testing, and determining reliability and validity of measures. In Study 2, we report on gender development in 60 children (42 boys, 18 girls), 24 adolescents (15 boys, 9 girls), and 34 adults (19 men, 15 women) with DSD. The majority of participants with DSD never received any medical or surgical treatment prior to this study. We observed a gender change in all age groups, with the greatest incidence in adults. Among patients who changed, most changed from female to male, possessed a 46,XY karyotype, and had experienced significant masculinization during life. Gender identity confusion and cross-gender behavior was more frequently observed in children with DSD raised as girls compared to boys. Puberty and associated masculinization were related to gender problems in individuals with 46,XY DSD raised female. An integrated clinical and psychological follow-up on gender outcome is necessary prior to puberty and adulthood.

MAP3K1-related gonadal dysgenesis: Six new cases and review of the literature.

PubMed

Granados, Andrea; Alaniz, Veronica I; Mohnach, Lauren; Barseghyan, Hayk; Vilain, Eric; Ostrer, Harry; Quint, Elisabeth H; Chen, Ming; Keegan, Catherine E

2017-06-01

Investigation of disorders of sex development (DSD) has resulted in the discovery of multiple sex-determining genes. MAP3K1 encodes a signal transduction regulator in the sex determination pathway and is emerging as one of the more common genes responsible for 46,XY DSD presenting as complete or partial gonadal dysgenesis. Clinical assessment, endocrine evaluation, and genetic analysis were performed in six individuals from four unrelated families with 46,XY DSD. All six individuals were found to have likely pathogenic MAP3K1 variants. Three of these individuals presented with complete gonadal dysgenesis, characterized by bilateral streak gonads with typical internal and external female genitalia, while the other three presented with partial gonadal dysgenesis, characterized by incomplete testicular development, resulting in clitoral hypertrophy with otherwise typical female external genitalia. Testing for MAP3K1 variants should be considered in patients with 46,XY complete or partial gonadal dysgenesis, particularly in families with multiple members affected with 46,XY DSD. Identification of a MAP3K1 variant should prompt an evaluation for DSD in female siblings of the proband. © 2017 Wiley Periodicals, Inc.

Society for Endocrinology UK guidance on the initial evaluation of an infant or an adolescent with a suspected disorder of sex development (Revised 2015).

PubMed

Ahmed, S Faisal; Achermann, John C; Arlt, Wiebke; Balen, Adam; Conway, Gerry; Edwards, Zoe; Elford, Sue; Hughes, Ieuan A; Izatt, Louise; Krone, Nils; Miles, Harriet; O'Toole, Stuart; Perry, Les; Sanders, Caroline; Simmonds, Margaret; Watt, Andrew; Willis, Debbie

2016-05-01

It is paramount that any child or adolescent with a suspected disorder of sex development (DSD) is assessed by an experienced clinician with adequate knowledge about the range of conditions associated with DSD. If there is any doubt, the case should be discussed with the regional DSD team. In most cases, particularly in the case of the newborn, the paediatric endocrinologist within the regional team acts commonly as the first point of contact. This clinician should be part of a multidisciplinary team experienced in management of DSD and should ensure that the affected person and parents have access to specialist psychological support and that their information needs are comprehensively addressed. The underlying pathophysiology of DSD and the strengths and weaknesses of the tests that can be performed should be discussed with the parents and affected young person and tests undertaken in a timely fashion. Finally, in the field of rare conditions, it is imperative that the clinician shares the experience with others through national and international clinical and research collaboration. © 2015 John Wiley & Sons Ltd. Original manuscript © 2015 The Society for Endocrinology.

Subjective need for psychological support (PsySupp) in parents of children and adolescents with disorders of sex development (dsd).

PubMed

Bennecke, Elena; Werner-Rosen, Knut; Thyen, Ute; Kleinemeier, Eva; Lux, Anke; Jürgensen, Martina; Grüters, Annette; Köhler, Birgit

2015-10-01

Disorders/diversity of sex development (dsd) is an umbrella term for congenital conditions often diagnosed within childhood. As most parents are unprepared for this situation, psychological support (PsySupp) is recommended. The aim of this study was to analyse the extent to which parents express a need for PsySupp. Three hundred twenty-nine parents of children with dsd were included; 40.4 % of the parents indicated to have a need for PsySupp, only 50 % of this group received it adequately. The diagnoses partial gonadal dysgenesis, partial androgen insensitivity syndrome (pAIS) and disorders of androgen synthesis are associated with a high need for PsySupp in parents (54, 65, and 50 %). Sex assignment surgery neither reduced nor increased the need for PsySupp. Taking a picture, radiography, laparoscopy, gonadal biopsy, gonadectomy and hormonal puberty induction are associated with a high need for PsySupp. There was no association between the need for PsySupp and the parents' perception of the appearance of the genitalia. Having a child with dsd is associated with a high need for PsySupp in parents. In particular, parents of children with XY-dsd with androgen effects other than hypospadias expressed a high need of PsySupp. PsySupp for parents should be an obligatory part of interdisciplinary care to reduce fears and concerns. What is known • In parents, having a child with dsd provokes insecurities and fears. Hence, psychological support is recommended as part of the interdisciplinary care. What is new • This is the first study investigating the subjective need for psychological support in a large sample of parents of children with dsd in Germany. We present data on the subjective need for psychological support of the parents, related diagnoses and factors, which should be considered in psychological counselling.

Is it possible to preserve lumbar lordosis after hybrid stabilization? Preliminary results of a novel rigid-dynamic stabilization system in degenerative lumbar pathologies.

PubMed

Formica, Matteo; Cavagnaro, Luca; Basso, Marco; Zanirato, Andrea; Felli, Lamberto; Formica, Carlo

2015-11-01

To evaluate the results of a novel rigid-dynamic stabilization technique in lumbar degenerative segment diseases (DSD), expressly pointing out the preservation of postoperative lumbar lordosis (LL). Forty-one patients with one level lumbar DSD and initial disc degeneration at the adjacent level were treated. Circumferential lumbar arthrodesis and posterior hybrid instrumentation were performed to preserve an initial disc degeneration above the segment that has to be fused. Clinical and spino-pelvic parameters were evaluated pre- and postoperatively. At 2-year follow-up, a significant improvement of clinical outcomes was reported. No statistically significant difference was noted between postoperative and 2-year follow-up in LL and in disc/vertebral body height ratio at the upper adjacent fusion level. When properly selected, this technique leads to good results. A proper LL should be achieved after any hybrid stabilization to preserve the segment above the fusion.

Psychological distress, self-harming behavior, and suicidal tendencies in adults with disorders of sex development.

PubMed

Schützmann, Karsten; Brinkmann, Lisa; Schacht, Melanie; Richter-Appelt, Hertha

2009-02-01

Evaluation of psychological distress has received relatively little attention in research on persons with disorders of sex development (DSD). Results of previous studies varied considerably, but most studies did not find increased levels of psychological distress. We conducted a pilot study based on a sample of 37 persons with diverse forms of DSD recruited via various strategies. The Brief Symptom Inventory (BSI) was used to assess self-reported psychological distress. Psychological distress varied broadly across all diagnostic subgroups. Overall, the BSI Global Severity Index indicated higher distress in the sample of persons with DSD compared to a non-clinical norm population of women, with an effect size of d = 0.67. According to predefined BSI criteria, 59% of participants were classified as a clinical case. Self-harming behavior and suicidal tendencies were also assessed and compared to a community based sample of women, including subgroups of traumatized women with a history of physical or sexual abuse. The prevalence rates of self-harming behavior and suicidal tendencies in the DSD sample exceeded the rates of the non-traumatized comparison subgroup, with rates comparable to the traumatized comparison groups of women with physical or sexual abuse. As possible explanations for the higher distress found here compared to most previous studies, differences in measures and sample recruitment are discussed. Our results suggest that adults with DSD are markedly psychologically distressed with rates of suicidal tendencies and self-harming behavior on a level comparable to non-DSD women with a history of physical or sexual abuse, but sample recruitment procedures do not permit a firm generalization.

Copy number variation in the region harboring SOX9 gene in dogs with testicular/ovotesticular disorder of sex development (78,XX; SRY-negative).

PubMed

Marcinkowska-Swojak, Malgorzata; Szczerbal, Izabela; Pausch, Hubert; Nowacka-Woszuk, Joanna; Flisikowski, Krzysztof; Dzimira, Stanislaw; Nizanski, Wojciech; Payan-Carreira, Rita; Fries, Ruedi; Kozlowski, Piotr; Switonski, Marek

2015-10-01

Although the disorder of sex development in dogs with female karyotype (XX DSD) is quite common, its molecular basis is still unclear. Among mutations underlying XX DSD in mammals are duplication of a long sequence upstream of the SOX9 gene (RevSex) and duplication of the SOX9 gene (also observed in dogs). We performed a comparative analysis of 16 XX DSD and 30 control female dogs, using FISH and MLPA approaches. Our study was focused on a region harboring SOX9 and a region orthologous to the human RevSex (CanRevSex), which was located by in silico analysis downstream of SOX9. Two highly polymorphic copy number variable regions (CNVRs): CNVR1 upstream of SOX9 and CNVR2 encompassing CanRevSex were identified. Although none of the detected copy number variants were specific to either affected or control animals, we observed that the average number of copies in CNVR1 was higher in XX DSD. No copy variation of SOX9 was observed. Our extensive studies have excluded duplication of SOX9 as the common cause of XX DSD in analyzed samples. However, it remains possible that the causative mutation is hidden in highly polymorphic CNVR1.

Copy number variation in the region harboring SOX9 gene in dogs with testicular/ovotesticular disorder of sex development (78,XX; SRY-negative)

PubMed Central

Marcinkowska-Swojak, Malgorzata; Szczerbal, Izabela; Pausch, Hubert; Nowacka-Woszuk, Joanna; Flisikowski, Krzysztof; Dzimira, Stanislaw; Nizanski, Wojciech; Payan-Carreira, Rita; Fries, Ruedi; Kozlowski, Piotr; Switonski, Marek

2015-01-01

Although the disorder of sex development in dogs with female karyotype (XX DSD) is quite common, its molecular basis is still unclear. Among mutations underlying XX DSD in mammals are duplication of a long sequence upstream of the SOX9 gene (RevSex) and duplication of the SOX9 gene (also observed in dogs). We performed a comparative analysis of 16 XX DSD and 30 control female dogs, using FISH and MLPA approaches. Our study was focused on a region harboring SOX9 and a region orthologous to the human RevSex (CanRevSex), which was located by in silico analysis downstream of SOX9. Two highly polymorphic copy number variable regions (CNVRs): CNVR1 upstream of SOX9 and CNVR2 encompassing CanRevSex were identified. Although none of the detected copy number variants were specific to either affected or control animals, we observed that the average number of copies in CNVR1 was higher in XX DSD. No copy variation of SOX9 was observed. Our extensive studies have excluded duplication of SOX9 as the common cause of XX DSD in analyzed samples. However, it remains possible that the causative mutation is hidden in highly polymorphic CNVR1. PMID:26423656

The Spectrum of Ovotesticular Disorders of Sex Development in South Africa: A Single-Centre Experience.

PubMed

Ganie, Yasmeen; Aldous, Colleen; Balakrishna, Yusentha; Wiersma, Rinus

2017-01-01

To describe the clinical characteristics, biochemistry, histopathology, and long-term outcomes in subjects with ovotesticular (OT) disorder of sex development (DSD). This is a retrospective subset analysis of 64 cases of histologically confirmed OT DSD. All subjects were South African; 97% (n = 62) were African and 92% (n = 59) were of Zulu ethnicity. The most common karyotype was 46,XX (88%; n = 56), followed by 46,XY (8%), 46,XY/45,X (3%), and 46,XX/46,XY (1%). The median age at presentation was 7 months (0.5 months to 5.1 years). Sixty-one of the subjects (95%) presented with DSD. The ovotestis was the most frequent gonad (56%), followed by the ovary (23%) and the testis (16%). Testes were more commonly located on the right and ovaries on the left (p < 0.0001). The male gender was the predominant sex of rearing in two-thirds of the subjects. Gender dysphoria was noted in 8 subjects (11%) at a median of 6.4 (4.3-9.3) years. Long-term follow-up (n = 14) revealed spontaneous puberty in 5 subjects, gender dysphoria in 2 subjects, and neuropsychiatric disorders in 4 subjects. OT DSD is an important differential diagnosis in Black South Africans with 46,XX DSD. © 2017 S. Karger AG, Basel.

Promoting Shared Decision Making in Disorders of Sex Development (DSD): Decision Aids and Support Tools.

PubMed

Siminoff, L A; Sandberg, D E

2015-05-01

Specific complaints and grievances from adult patients with disorders of sex development (DSD), and their advocates center around the lack of information or misinformation they were given about their condition and feeling stigmatized and shamed by the secrecy surrounding their condition and its management. Many also attribute poor sexual function to damaging genital surgery and/or repeated, insensitive genital examinations. These reports suggest the need to reconsider the decision-making process for the treatment of children born with DSD. This paper proposes that shared decision making, an important concept in adult health care, be operationalized for the major decisions commonly encountered in DSD care and facilitated through the utilization of decision aids and support tools. This approach may help patients and their families make informed decisions that are better aligned with their personal values and goals. It may also lead to greater confidence in decision making with greater satisfaction and less regret. A brief review of the past and current approach to DSD decision making is provided, along with a review of shared decision making and decision aids and support tools. A case study explores the need and potential utility of this suggested new approach. © Georg Thieme Verlag KG Stuttgart · New York.

Future fertility for individuals with differences of sex development: Parent attitudes and perspectives about decision-making.

PubMed

Johnson, Emilie K; Rosoklija, Ilina; Shurba, Angela; D'Oro, Anthony; Gordon, Elisa J; Chen, Diane; Finlayson, Courtney; Holl, Jane L

2017-08-01

Children, adolescents, and young adults (children/youth) with differences/disorders of sex development (DSD) face challenges related to future fertility; this may be due to variations in gonadal development, and, for some, gonadectomy performed to reduce the risk of malignancy. Childhood may be the only time for preservation of biological fertility potential for children/youth who undergo gonadectomy or have early gonadal failure. Fertility-related decision-making for these patients is particularly complicated, due to the need for parental proxy decision-making, potential discordance between gender identity and gonadal type, and uncertain future assisted reproductive technologies. This study aimed to assess: (1) attitudes regarding future fertility, and (2) healthcare needs for fertility-related decision-making among parents of children/youth with DSD. Semi-structured qualitative interviews about future fertility were conducted with parents of children/youth with DSD. Parents who had never discussed fertility with a healthcare provider were excluded. Grounded theory methodology was used to identify emergent themes and patterns. Demographics and clinical characteristics were assessed via survey and medical chart review. Nineteen parents were interviewed (participation rate: 60%, 14 mothers/5 fathers, median patient age at diagnosis 6 months (range 0-192), eight DSD diagnoses). The most common emergent themes are summarized in the Summary Table. Most parents identified fertility as a key concern, both at time of diagnosis and throughout development. Parents expressed difficulty with timing of disclosure about potential infertility to their children. Multiple preferences related to medical decision-making about future fertility and fertility preservation were expressed, including: a desire for step-by-step decision-making, and use of medically vetted information and research to guide decisions. This qualitative study provided new information about the perspectives of parents of children/youth with DSD regarding future fertility. Previous studies have suggested that the possibility of biological parenthood is important to many individuals with DSD. This study provided an in-depth parental perspective. This is important because many decisions that affect future fertility are made in childhood, and require parents to make decisions on behalf of their children. The study sample was limited in its geographic diversity. Strengths of the study included diversity in age of the child/youth, ethnic backgrounds, and the DSD diagnoses that were represented. Future fertility was a concern for many parents of children/youth with DSD. Parents expressed multiple priorities and preferences related to making difficult fertility-related medical decisions for their children. Many of the study findings could be incorporated into future best practices for discussions about fertility with families of children/youth with DSD. Copyright © 2017 Journal of Pediatric Urology Company. Published by Elsevier Ltd. All rights reserved.

Concepts and Updates in the Evaluation and Diagnosis of Common Disorders of Sexual Development.

PubMed

Rawal, Amar Y; Austin, Paul F

2015-12-01

Our understanding of disorders of sexual differentiation (DSD) has evolved from aberrations of human genital development to a broad group of complex disorders of etiological and functional significance. The unique challenge of DSD conditions is that they create a cause for significant angst and concern for both parents and physician, as they frequently lead to questions with regards to gender assignment, surgically corrective options, long-term outlook regarding gender identity, and reproductive potential. To further add to the burden, many patients who present with genital abnormalities do not have a clear explanation as to the underlying basis of their disorder. This review looks at DSD from a pediatric urology point of view with emphasis on evaluation, diagnosis, and algorithm for work-up. We also discuss novel genetic analysis techniques and their value in diagnosis. Overall, this is an all-encompassing review on a diagnostic approach to DSD, with inclusion of recent developments and controversies, which will benefit urologists and other physicians alike.

Parenting Children with Disorders of Sex Development (DSD): A Developmental Perspective Beyond Gender.

PubMed

Wisniewski, A B; Sandberg, D E

2015-05-01

Advances in therapeutics for specific conditions have contributed to a categorical psychological approach to chronic diseases that affect children. Consensus statements and clinical guidelines recognize stress associated with disorders of sex development (DSD) for patients and their caregivers - yet much remains to be learned concerning the social adjustment, mental health, and quality of life of affected children and their families. We present preliminary data on the psychosocial comorbidities of caregivers of children with DSD, including stigma, isolation, stress, anxiety, and depressive symptomatology. Evidence is offered in support of individualized psychological approaches for families according to such variables as: 1) gender of the caregiver, 2) gender of the affected child and 3) presence of genital ambiguity at birth. Development of feasible, targeted interventions to ameliorate psychosocial comorbidities among caregivers is needed to optimize social adjustment, mental health, and health-related quality of life (HRQoL) for children with DSD. © Georg Thieme Verlag KG Stuttgart · New York.

MO/DSD online information server and global information repository access

NASA Technical Reports Server (NTRS)

Nguyen, Diem; Ghaffarian, Kam; Hogie, Keith; Mackey, William

1994-01-01

Often in the past, standards and new technology information have been available only in hardcopy form, with reproduction and mailing costs proving rather significant. In light of NASA's current budget constraints and in the interest of efficient communications, the Mission Operations and Data Systems Directorate (MO&DSD) New Technology and Data Standards Office recognizes the need for an online information server (OLIS). This server would allow: (1) dissemination of standards and new technology information throughout the Directorate more quickly and economically; (2) online browsing and retrieval of documents that have been published for and by MO&DSD; and (3) searching for current and past study activities on related topics within NASA before issuing a task. This paper explores a variety of available information servers and searching tools, their current capabilities and limitations, and the application of these tools to MO&DSD. Most importantly, the discussion focuses on the way this concept could be easily applied toward improving dissemination of standards and new technologies and improving documentation processes.

TESTOSTERONE AND SPORT: CURRENT PERSPECTIVES

PubMed Central

Wood, Ruth I.; Stanton, Steven J.

2011-01-01

Testosterone and other anabolic-androgenic steroids enhance athletic performance in men and women. As a result, exogenous androgen is banned from most competitive sports. However, due to variability in endogenous secretion, and similarities with exogenous testosterone, it has been challenging to establish allowable limits for testosterone in competition. Endogenous androgen production is dynamically regulated by both exercise and winning in competition. Furthermore, testosterone may promote athletic performance, not only through its long-term anabolic actions, but also through rapid effects on behavior. In women, excess production of endogenous testosterone due to inborn disorders of sexual development (DSD) may convey a competitive advantage. For many years, female competitors have been subject to tests of sexual genotype and phenotype known as gender verification. Although gender verification has not identified any normal man competing as a woman, this process has identified women athletes with DSD. As understanding of DSD has expanded in recent years, women with DSD are increasingly able to continue athletic competition. PMID:21983229

Preservation of Fertility Potential for Gender and Sex Diverse Individuals.

PubMed

Johnson, Emilie K; Finlayson, Courtney

2016-01-01

Gender and sex diverse individuals-transgender individuals and those with disorders of sex development (DSD)-both face medical treatments that may impair biological fertility potential. Young DSD patients also often have abnormal gonadal development. Fertility preservation for these populations has historically been poorly understood and rarely addressed. Future fertility should be discussed with gender and sex diverse individuals, particularly given recent advances in fertility preservation technologies and evolving views of fertility potential. Key ethical issues include parental proxy decision-making and uncertainty regarding prepubertal fertility preservation technologies. Many opportunities exist for advancing fertility-related care and research for transgender and DSD patients.

Simultaneous determination of 11 fluorescent whitening agents in food-contact paper and board by ion-pairing high-performance liquid chromatography with fluorescence detection.

PubMed

Jiang, Dingguo; Chen, Lisong; Fu, Wusheng; Qiu, Hanquan

2015-02-01

4,4'-Diaminostilbene-2,2'-disulfonic acid based fluorescent whitening agents (DSD-FWAs) are prohibited in food-contact paper and board in many countries. In this work, a reliable high-performance liquid chromatography method was developed for the simultaneous determination of 11 common DSD-FWAs in paper material. Sample preparation and extraction as well as chromatographic separation of multicomponent DSD-FWAs were successfully optimized. DSD-FWAs in prepared samples were ultrasonically extracted with acetonitrile/water/triethylamine (40:60:1, v/v/v), separated on the C(18) column with the mobile phase containing tetrabutylammonium bromide, and then detected by a fluorescence detector. The limits of detection were 0.12-0.24 mg/kg, and the calibration curves showed the linear correlation (R(2) ≥ 0.9994) within the range of 8.0-100 ng/mL, which was equivalent to the range of 0.80-10 mg/kg in the sample. The average recoveries and the RSDs were 81-106% and 2-9% at two fortification levels (1.0 and 5.0 mg/kg) in paper bowls, respectively. The successful determination of 11 DSD-FWAs in food-contact paper and board obtained from local markets indicated that the newly developed method was rapid, accurate, and highly selective. © 2014 WILEY-VCH Verlag GmbH & Co. KGaA, Weinheim.

Investigations on the links between rain intensity or reflectivity structures estimated from radar and drop size distributions

NASA Astrophysics Data System (ADS)

Hachani, Sahar; Boudevillain, Brice; Bargaoui, Zoubeida; Delrieu, Guy

2015-04-01

During the first Special Observation Period (SOP) of the Hydrological cycle in the Mediterranean Experiment (HyMeX, www.hymex.org) held in fall 2012 in the Northwestern Mediterranean region, an observation network dedicated to rain studies was implemented in the Cévennes region, France. It was mainly constituted by weather radars, micro rain radars, disdrometers and rain gauges. Observations are performed by a network of 25 OTT Parsivel optical disdrometers distributed with inter-distances ranging from a few meters up to about one hundred kilometers. This presentation focuses on the comparison of one optical disdrometer observations located at Villeneuve-de-berg to observations using weather Météo-France / ARAMIS radar located at Bollène which is in a neighborhood of 60 km from the disdrometer.The period from September to November 2012 is studied. To analyze the structure of the rain observed by radar, a window of investigation centered on the disdrometer was selected and the mean spatial values, standard deviation, gradients, and intermittency of radar reflectivity or rainfall intensity were computed for a time step of 5 minutes.Four different windowsizes were analyzed: 1 km², 25 km², 100 km² and 400 km². On the other hand, the total concentration of drops Nt, the characteristic diameter of drops Dc, and a Gamma distribution shape parameter µ were estimated. Gamma distribution for the DSD related to disdrometer observations was estimated according to the modeling framework proposed by Yu et al. (2014). Correlation coefficient between intensity R obtained by the disdrometer and windowaverage R estimated using radar data is nearly 0.70 whatever the window. The highest value is found for the window 25 km² (0.74). Correlation coefficients between Dc and window average R vary from 0.35 for the window 1 km² to 0.4 for the window 400 km². So, they areweak and not sensitive to the choice of the window. Contrarily, formean radar reflectivityZ, correlation coefficients with Dc, Nt and µ vary to some extent from the window size 1 km² to the window size 100 km². The most sensitive is the correlation coefficient between Z and Nt. However it presents the smallest correlations while the highest correlations are found for Dc (respectively 0.80 and 0.74). The overall of relations between the rainfall structure variables and DSD parameters will be presented in the communication with a special attention to the weather and/or rainfall types (orographic, stratiform, and convective). References: Yu, N., Delrieu, G., Boudevillain, B., Hazenberg, P., and Uijlenhoet, R., 2014: Unified formulation of single and multi-moment normalizations of the raindrop size distribution based on the gamma probability density function. Journal of Applied Meteorology and Climatology, 53, pp 166-179.

Comparison of Instantaneous Frequency Scaling from Rain Attenuation and Optical Disdrometer Measurements at K/Q bands

NASA Technical Reports Server (NTRS)

Nessel, James; Zemba, Michael; Luini, Lorenzo; Riva, Carlo

2015-01-01

Rain attenuation is strongly dependent on the rain rate, but also on the rain drop size distribution (DSD). Typically, models utilize an average drop size distribution, such as those developed by Laws and Parsons, or Marshall and Palmer. However, individual rain events may possess drop size distributions which could be significantly different from the average and will impact, for example, fade mitigation techniques which utilize channel performance estimates from a signal at a different frequency. Therefore, a good understanding of the characteristics and variability of the raindrop size distribution is extremely important in predicting rain attenuation and instantaneous frequency scaling parameters on an event-toevent basis. Since June 2014, NASA Glenn Research Center (GRC) and the Politecnico di Milano (POLIMI) have measured the attenuation due to rain in Milan, Italy, on the 20/40 GHz beacon signal broadcast from the Alphasat TDP#5 Aldo Paraboni Q/V-band Payload. Concomitant with these measurements are the measurements of drop size distribution and rain rate utilizing a Thies Clima laser precipitation monitor (disdrometer). In this paper, we discuss the comparison of the predicted rain attenuation at 20 and 40 GHz derived from the drop size distribution data with the measured rain attenuation. The results are compared on statistical and real-time bases. We will investigate the performance of the rain attenuation model, instantaneous frequency scaling, and the distribution of the scaling factor. Further, seasonal rain characteristics will be analysed.

Elucidation of Formulation and Delivery Device-Related Effects on In Vitro Performance of Nasal Spray with Implication to Rational Product Specification Identification.

PubMed

Grmaš, Jernej; Stare, Katarina; Božič, Dane; Injac, Rade; Dreu, Rok

2017-08-01

The aim of this work is to use an experimental design approach to identify and study influential formulation and delivery device properties, which can be controlled by final product manufacturer, to establish design space, within which desired in vitro performance can be reached. Combining three factors, viscosity of suspension, nozzle orifice diameter (OD), and shot weight (SW), at three levels resulted in D-optimal experimental design with 20 runs. Responses within this study were droplet size distribution (DSD) and spray pattern (SP) in vitro tests. In addition, the amount of mechanical work needed for actuation was integrated from force profiles and used as a response. Results were fit to quadratic model by regression, which allowed also for determination of second-order and interaction effects between factors. Models were further optimized by keeping significant terms only. Optimized models were used to create response surfaces and design space with confidence levels. Viscosity has a dominant effect on DSD and modest effect on SP, with lower viscosities related to generation of smaller DSD and larger SP. Orifice diameter was found to have the highest impact on SP, with larger diameter resulting in larger SP. This effect was additionally confirmed by results of Plume Geometry in vitro test. Shot weight factor exerts significant influence on all tested metrics. Work, however, did not vary greatly with suspension viscosity or orifice diameter. Shot weight is the most dominant factor for work and important for DSD having a positive effect on both responses. In the case of SP, its relationship with shot weight is described by second-order polynomial fit. Inspection of raw data revealed that density of droplets within SP area is different for different shot weights. Presented study elucidated an inherent relationship between factors and responses and established mathematical models (response surfaces) for predictive purposes to target specific in vitro performance of nasal sprays by appropriate specification of factors, taking into account control space with included risk and uncertainty analysis.

A simple model for the dependence on local detonation speed of the product entropy

NASA Astrophysics Data System (ADS)

Hetherington, David C.; Whitworth, Nicholas J.

2012-03-01

The generation of a burn time field as a pre-processing step ahead of a hydrocode calculation has been mostly upgraded in the explosives modelling community from the historical model of singlespeed programmed burn to DSD/WBL (Detonation Shock Dynamics / Whitham Bdzil Lambourn). The problem with this advance is that the previously conventional approach to the hydrodynamic stage of the model results in the entropy of the detonation products (s) having the wrong correlation with detonation speed (D). Instead of being higher where D is lower, the conventional method leads to s being lower where D is lower, resulting in a completely fictitious enhancement of available energy where the burn is degraded! A technique is described which removes this deficiency of the historical model when used with a DSD-generated burn time field. By treating the conventional JWL equation as a semi-empirical expression for the local expansion isentrope, and constraining the local parameter set for consistency with D, it is possible to obtain the two desirable outcomes that the model of the detonation wave is internally consistent, and s is realistically correlated with D.

A Simple Model for the Dependence on Local Detonation Speed (D) of the Product Entropy (S)

NASA Astrophysics Data System (ADS)

Hetherington, David

2011-06-01

The generation of a burn time field as a pre-processing step ahead of a hydrocode calculation has been mostly upgraded in the explosives modelling community from the historical model of single-speed programmed burn to DSD. However, with this advance has come the problem that the previously conventional approach to the hydrodynamic stage of the model results in S having the wrong correlation with D. Instead of being higher where the detonation speed is lower, i.e. where reaction occurs at lower compression, the conventional method leads to S being lower where D is lower, resulting in a completely fictitious enhancement of available energy where the burn is degraded! A technique is described which removes this deficiency of the historical model when used with a DSD-generated burn time field. By treating the conventional JWL equation as a semi-empirical expression for the local expansion isentrope, and constraining the local parameter set for consistency with D, it is possible to obtain the two desirable outcomes that the model of the detonation wave is internally consistent, and S is realistically correlated with D.

Gender monitoring and gender reassignment of children and adolescents with a somatic disorder of sex development.

PubMed

Meyer-Bahlburg, Heino F L

2011-10-01

Individuals born with a somatic disorder of sex development (DSD) have high rates of gender-atypical behavior, gender uncertainty, gender dysphoria, and patient-initiated gender change in childhood, adolescence,and adulthood. This article addresses the issues a mental health services provider has to consider in evaluating and assisting such patients and provides examples of assessment-method batteries. To date, the World Professional Association for Transgender Health's Standards of Care, 6th version, for non-DSD patients with gender dysphoria, may be cautiously used for guidance, taking into account the considerable differences in presentation and medical context between gender dysphoric patients with and without a DSD.

21st International Conference on DNA Computing and Molecular Programming

DTIC Science & Technology

2016-05-24

ratio [24], which allows plants to ration starch reserves during seasonally changing nights . 28 N. Dalchau et al. We specify the division problem...design of leak- resistant DSD systems. T his motif forms t he basis of a number of DSD schemes t hat do not rely on toehold sequestration alone to prevent

ACTIVATION OF A CRYPTIC D-SERINE DEAMINASE (DSD) GENE FROM PSEUDOMONAS CEPACIA 17616

EPA Science Inventory

D-serine inhibits growth of P. cepacia 17616; however, resistant mutants able to express an ordinarily cryptic D-serine deaminase (dsd) gene were isolated readily. The resistant strains formed high levels of a D-serine deaminase active on D-threonine as well as D-serine. IS eleme...

Genome-Wide Identification of CBX2 Targets: Insights in the Human Sex Development Network

PubMed Central

Eid, Wassim; Opitz, Lennart

2015-01-01

Chromobox homolog 2 (CBX2) is a chromatin modifier that plays an important role in sexual development and its disorders (disorders of sex development [DSD]), yet the exact rank and function of human CBX2 in this pathway remains unclear. Here, we performed large-scale mapping and analysis of in vivo target loci of the protein CBX2 in Sertoli-like NT-2D1 cells, using the DNA adenine methyltransferase identification technique. We identified close to 1600 direct targets for CBX2. Intriguingly, validation of selected candidate genes using qRT-PCR in cells overexpressing CBX2 or in which CBX2 has been knocked down indicated that several CBX2-responsive genes encode proteins that are involved in DSD. We further validated these effects on the candidate genes using a mutated CBX2 causing DSD in human patient. Overall, our findings suggest that CBX2 role in the sex development cascade is to stimulate the male pathway and concurrently inhibit the female pathway. These data provide fundamental insights into potential etiology of DSD. PMID:25569159

Exploring stakeholder experiences of interprofessional teamwork in sex development outpatient clinics.

PubMed

Sanders, Caroline; Edwards, Zoe; Keegan, Kimberley

2017-05-01

Adopting an interprofessional team approach to care of the child with rare conditions that can affect sex development (DSD) has been advocated by a consensus document within the last decade. In the United Kingdom, the approach appears orientated towards an interprofessional model with the integration of separate professions working in single consultations with families working collaboratively to focus on care using a person and family-centred lens. This concurrent mixed-methods UK study using questionnaires, observation, and interviews aimed to examine professionals', patients', and parents' expectations and interactions during DSD clinic. In adapting a model of patient and family-centred care, we were able to analyse the dimensions of care at the micro-, meso-, and macro-level. The micro captured the unique nature of the bio-psychosocial aspects of DSD, professional capabilities, and communication. The meso examined shared learning and objective setting as well as aspects of knowledge translation. The macro focused on the operational aspects and the emancipatory knowing embedded within DSD care. Complete data from participants (n = 105) were analysed from 47 outpatient clinical consultations and are reported as numerical data, tables, and participants' voices. Interestingly, all participants identified topics or concerns that were absent in the dialogues during consultation. Our findings informed the adaptation of a patient-focused model, thereby supporting the development of the concept of patient-centeredness, integration, and collaboration. This framework may serve as a platform, embedding existing evaluative tools and acknowledging the patient and professional partnership necessary in DSD care.

Renaissance architecture for Ground Data Systems

NASA Technical Reports Server (NTRS)

Perkins, Dorothy C.; Zeigenfuss, Lawrence B.

1994-01-01

The Mission Operations and Data Systems Directorate (MO&DSD) has embarked on a new approach for developing and operating Ground Data Systems (GDS) for flight mission support. This approach is driven by the goals of minimizing cost and maximizing customer satisfaction. Achievement of these goals is realized through the use of a standard set of capabilities which can be modified to meet specific user needs. This approach, which is called the Renaissance architecture, stresses the engineering of integrated systems, based upon workstation/local area network (LAN)/fileserver technology and reusable hardware and software components called 'building blocks.' These building blocks are integrated with mission specific capabilities to build the GDS for each individual mission. The building block approach is key to the reduction of development costs and schedules. Also, the Renaissance approach allows the integration of GDS functions that were previously provided via separate multi-mission facilities. With the Renaissance architecture, the GDS can be developed by the MO&DSD or all, or part, of the GDS can be operated by the user at their facility. Flexibility in operation configuration allows both selection of a cost-effective operations approach and the capability for customizing operations to user needs. Thus the focus of the MO&DSD is shifted from operating systems that we have built to building systems and, optionally, operations as separate services. Renaissance is actually a continuous process. Both the building blocks and the system architecture will evolve as user needs and technology change. Providing GDS on a per user basis enables this continuous refinement of the development process and product and allows the MO&DSD to remain a customer-focused organization. This paper will present the activities and results of the MO&DSD initial efforts toward the establishment of the Renaissance approach for the development of GDS, with a particular focus on both the technical and process implications posed by Renaissance to the MO&DSD.

Screening and Familial Characterization of Copy-Number Variations in NR5A1 in 46,XY Disorders of Sex Development and Premature Ovarian Failure

PubMed Central

Harrison, Steven M.; Campbell, Ian M.; Keays, Melise; Granberg, Candace F.; Villanueva, Carlos; Tannin, Grace; Zinn, Andrew R.; Castrillon, Diego H.; Shaw, Chad A.; Stankiewicz, Paweł; Baker, Linda A.

2013-01-01

The NR5A1 gene encodes for steroidogenic factor 1, a nuclear receptor that regulates proper adrenal and gonadal development and function. Mutations identified by NR5A1 sequencing have been associated with disorders of sex development (DSD), ranging from sex reversal to severe hypospadias in 46,XY patients and premature ovarian failure (POF) in 46,XX patients. Previous reports have identified four families with a history of both 46,XY DSD and 46,XX POF carrying segregating NR5A1 sequence mutations. Recently, three 46,XY DSD sporadic cases with NR5A1 microdeletions have been reported. Here, we identify the first NR5A1 microdeletion transmitted in a pedigree with both 46,XY DSD and 46,XX POF. A 46,XY individual with DSD due to gonadal dysgenesis was born to a young mother who developed POF. Array CGH analysis revealed a maternally inherited 0.23 Mb microdeletion of chromosome 9q33.3, including the NR5A1 gene. Based on this finding, we screened patients with unexplained 46,XY DSD (n=11), proximal hypospadias (n=21) and 46,XX POF (n=36) for possible NR5A1 copy-number variations (CNVs) via multiplex ligation-dependent probe amplification (MLPA), but did not identify any additional CNVs involving NR5A1. These data suggest that NR5A1 CNVs are an infrequent cause of these disorders but that array CGH and MLPA are useful genomic screening tools to uncover the genetic basis of such unexplained cases. This case is the first report of a familial NR5A1 CNV transmitting in a pedigree, causing both the male and female phenotypes associated with NR5A1 mutations, and the first report of a NR5A1 CNV associated with POF. PMID:23918653

Feasibility of low frequency ultrasound for water removal from crude oil emulsions.

PubMed

Antes, Fabiane G; Diehl, Liange O; Pereira, Juliana S F; Guimarães, Regina C L; Guarnieri, Ricardo A; Ferreira, Bianca M S; Dressler, Valderi L; Flores, Erico M M

2015-07-01

The feasibility of indirect application of low frequency ultrasound for demulsification of crude oil was investigated without using chemical demulsifiers. Experiments were performed in an ultrasonic bath with frequency of 35 kHz. Synthetic emulsions with water content of 12%, 35% and 50% and median of droplet size distribution (DSD), median D(0.5), of 5, 10 and 25 μm were prepared from crude oil with API density of 19 (heavy crude oil) and submitted to the proposed ultrasound-assisted demulsification procedure. Experimental conditions as temperature, time of exposition to ultrasound and ultrasonic power were evaluated. Separation of water from crude oil emulsion was observed for all emulsions investigated. Demulsification efficiency up to 65% was obtained for emulsion with 50% of water content and DSD of 10 μm. Higher efficiency of demulsification was achieved using US temperature of 45 °C and ultrasound power of 160 W by 15 min. Results obtained in this study showed that ultrasound could be considered a promising technology for industrial crude oil treatment and respective water removal. Copyright © 2015 Elsevier B.V. All rights reserved.

New Technologies for the Identification of Novel Genetic Markers of Disorders of Sex Development (DSD)

PubMed Central

Bashamboo, A.; Ledig, S.; Wieacker, P.; Achermann, J.; McElreavey, K.

2010-01-01

Although the genetic basis of human sexual determination and differentiation has advanced considerably in recent years, the fact remains that in most subjects with disorders of sex development (DSD) the underlying genetic cause is unknown. Where pathogenic mutations have been identified, the phenotype can be highly variable, even within families, suggesting that other genetic variants are influencing the expression of the phenotype. This situation is likely to change, as more powerful and affordable tools become widely available for detailed genetic analyses. Here, we describe recent advances in comparative genomic hybridisation, sequencing by hybridisation and next generation sequencing, and we describe how these technologies will have an impact on our understanding of the genetic causes of DSD. PMID:20820110

Clinical Management of Gender in Egypt: Intersexuality and Transsexualism.

PubMed

Mazen, Inas A

2017-02-01

This article reviews the literature on intersexuality (disorders of sex development [DSD]) and transsexuality in Egypt. Egypt's resources for the diagnosis and treatment of rare conditions, such as DSD and transsexualism, are quite limited. The birth of a child with a DSD is likely to be stressful, especially in regard to decisions on gender assignment, and genital abnormalities are associated with stigma and shame. Gender assignment may be biased toward the male gender, because female infertility precludes marriage and female gender adversely affects employment prospects and inheritance. Later gender change in either direction may also carry stigma. Gender reassignment surgery for transsexuals without somatic intersexuality was legalized in Egypt in 2005, but requires permission by a national Sex Identification and Determination Committee.

Ambiguous genitalia: what prenatal genetic testing is practical?

PubMed

Adam, Margaret P; Fechner, Patricia Y; Ramsdell, Linda A; Badaru, Angela; Grady, Richard E; Pagon, Roberta A; McCauley, Elizabeth; Cheng, Edith Y; Parisi, Melissa A; Shnorhavorian, Margarett

2012-06-01

Concern for ambiguous genitalia or chromosome-phenotype discordance detected in a prenatal setting has increased over the last two decades. Practitioners faced with this prenatal finding have a variety of genetic tests available to them; however, it is unclear to what extent prenatal testing for disorders of sex development (DSD) is useful or practical. We undertook a retrospective review of the medical records of 140 individuals evaluated through the DSD clinic at Seattle Children's Hospital with birthdates from 01/01/1994 through 08/16/2011 to determine the rate of prenatal detection of ambiguous genitalia in individuals with DSD, what prenatal diagnostic workup was undertaken, and the postnatal outcome, including whether a postnatal genetic diagnosis was confirmed. Of all 140 subjects, 34 (24%) were identified prenatally. The most common postnatal diagnoses were penoscrotal hypospadias with transposition of the scrotum with no known genetic cause (24/140; 17%) and 21-hydroxylase deficiency (20/140; 14%). Apart from these, no single diagnosis comprised more than a few cases. Prenatal diagnostic testing varied widely, from no tests to multiple molecular tests with amniotic fluid hormone concentrations. In the absence of other fetal anomalies or growth retardation on ultrasound, prenatal karyotype with fluorescence in situ hybridization for the SRY gene is the most useful test when ambiguous genitalia is suspected. Further prenatal testing for Smith-Lemli-Opitz syndrome in 46,XY individuals and congenital adrenal hyperplasia in 46,XX individuals may be considered. However, targeted molecular testing for rare DSD conditions in the absence of a family history of DSD has a low yield. Copyright © 2012 Wiley Periodicals, Inc.

Challenges in educating patients and parents about differences in sex development.

PubMed

McCauley, Elizabeth

2017-06-01

This article reviews practical approaches to talking with parents and youth about Differences in Sex Development (DSD) which are conditions that affect chromosomal, gonadal, or anatomic sexual development, one of the most personal, and in our society, private areas of life. Talking with parents and patients about these conditions can be challenging given the complexity of sexual development and the sensitive nature of the information being shared. Changing approaches to disclosing or communicating information about conditions, such as DSD are reviewed as well as factors leading to revision in the diagnostic nomenclature. Building on these developments, strategies used by an established DSD team to enhance shared decision making and partnership with families and patients are presented followed by examples of how some particularly challenging, but not uncommon clinical situations were approached. The paper concludes by endorsing the importance of understanding the social and cultural needs and beliefs of the parents and patients with DSD to set the stage for effective disclosure of medical facts. To be most useful to parents and youth, medical disclosure needs to include discussion of practical implications and strategies to help families and patients digest, understand, and work with the information provided. © 2017 Wiley Periodicals, Inc.

Coping With Diverse Sex Development: Treatment Experiences and Psychosocial Support During Childhood and Adolescence and Adult Well-Being.

PubMed

Schweizer, Katinka; Brunner, Franziska; Gedrose, Benjamin; Handford, Christina; Richter-Appelt, Hertha

2017-06-01

The purpose of this exploratory, retrospective, and correlational study was to examine the relationships between childhood treatment experiences, parental care, and social support, and outcome in adults with different diverse sex development (DSD). The data of 69 participants from an exploratory questionnaire were collected in a retrospective German study. The majority received medical treatment in relation to their DSD during childhood and adolescence. Seventy percent reported having had a best friend and 29% a confidant during childhood. Sixty-one percent showed clinically relevant psychological distress, and 45% reported suicidal thoughts at least at one point in their lives. Quality of parental care and having had a best friend correlated positively with adult outcome, whereas treatment experiences correlated with aspects of impaired adjustment. Social support and DSD-related treatment experiences appear to have an impact on adult well-being. Appropriate psychosocial care including peer-to-peer support should be made available to children with DSD and their families. © The Author 2016. Published by Oxford University Press on behalf of the Society of Pediatric Psychology. All rights reserved. For permissions, please e-mail: journals.permissions@oup.com

3D Drop Size Distribution Extrapolation Algorithm Using a Single Disdrometer

NASA Technical Reports Server (NTRS)

Lane, John

2012-01-01

Determining the Z-R relationship (where Z is the radar reflectivity factor and R is rainfall rate) from disdrometer data has been and is a common goal of cloud physicists and radar meteorology researchers. The usefulness of this quantity has traditionally been limited since radar represents a volume measurement, while a disdrometer corresponds to a point measurement. To solve that problem, a 3D-DSD (drop-size distribution) method of determining an equivalent 3D Z-R was developed at the University of Central Florida and tested at the Kennedy Space Center, FL. Unfortunately, that method required a minimum of three disdrometers clustered together within a microscale network (.1-km separation). Since most commercial disdrometers used by the radar meteorology/cloud physics community are high-cost instruments, three disdrometers located within a microscale area is generally not a practical strategy due to the limitations of these kinds of research budgets. A relatively simple modification to the 3D-DSD algorithm provides an estimate of the 3D-DSD and therefore, a 3D Z-R measurement using a single disdrometer. The basis of the horizontal extrapolation is mass conservation of a drop size increment, employing the mass conservation equation. For vertical extrapolation, convolution of a drop size increment using raindrop terminal velocity is used. Together, these two independent extrapolation techniques provide a complete 3DDSD estimate in a volume around and above a single disdrometer. The estimation error is lowest along a vertical plane intersecting the disdrometer position in the direction of wind advection. This work demonstrates that multiple sensors are not required for successful implementation of the 3D interpolation/extrapolation algorithm. This is a great benefit since it is seldom that multiple sensors in the required spatial arrangement are available for this type of analysis. The original software (developed at the University of Central Florida, 1998.- 2000) has also been modified to read standardized disdrometer data format (Joss-Waldvogel format). Other modifications to the software involve accounting for vertical ambient wind motion, as well as evaporation of the raindrop during its flight time.

Neonatal Sex Assignment in Disorders of Sex Development: A Philosophical Introspection

PubMed Central

Raveenthiran, V.

2017-01-01

Management of ambiguous genitalia is highly controversial. This condition was known previously as intersex and presently as disorders of sex development (DSD). There is no consensus regarding the choice, timing and method of sex assignment in neonates with DSD. Consensus conferences could not unify the views of various stakeholders and third parties. This article philosophically examines the nature and origin of such controversies. Misconception, bias and conflicting priorities are identified as the three cardinal sources of controversies. Conceptual duality of sexes, confused notion of sex and gender, bias towards penetrative intercourse, conflict between utopian ideals and reality, unwillingness to compromise are identified as perpetuators of controversies. Suggestions are made regarding sex assignment in various types of DSD based on the understanding of published literature and the author’s personal experience. PMID:28920018

Two males with SRY-positive 46,XX testicular disorder of sex development.

PubMed

Gunes, Sezgin; Asci, Ramazan; Okten, Gülsen; Atac, Fatih; Onat, Onur E; Ogur, Gonul; Aydin, Oguz; Ozcelik, Tayfun; Bagci, Hasan

2013-02-01

The 46,XX testicular disorder of sex development (46,XX testicular DSD) is a rare phenotype associated with disorder of the sex chromosomes. We describe the clinical, molecular, and cytogenetic findings of a 16- and a 30-year-old male patient with sex-determining region Y (SRY)-positive 46,XX testicular DSD. Chromosomal analysis revealed 46,XX karyotype. Fluorescence in situ hybridization (FISH) showed the SRY region translocated to the short arm of the X chromosome. The presence of the SRY gene was also confirmed by polymerase chain reaction (PCR). The X chromosome inactivation (XCI) assay showed that both patients have a random pattern of X chromosome inactivation. This report compares the symptoms and features of the SRY-positive 46,XX testicular DSD patients.

Distillability sudden death in qutrit-qutrit systems under global and multilocal dephasing

DOE Office of Scientific and Technical Information (OSTI.GOV)

Ali, Mazhar

2010-04-15

Recently Song et al. [Phys. Rev. A 80, 012331 (2009)] discovered that certain two-qutrit entangled states interacting with multilocal dephasing undergo distillability sudden death (DSD). We generalized their studies for quantum states under global, collective, and multilocal dephasing. We found that for a specific family of quantum states DSD and entanglement sudden death may happen under global dephasing as well as under multilocal dephasing. Moreover, for these states simple local unitary transformations may not avoid DSD under the current dynamics. As there is no definitive criterion for separability or entanglement of density matrices with dimensions greater than six, therefore wemore » believe that the results obtained in this article are restricted to the specific family of states considered here.« less

Accurate Characterization of Rain Drop Size Distribution Using Meteorological Particle Spectrometer and 2D Video Disdrometer for Propagation and Remote Sensing Applications

NASA Technical Reports Server (NTRS)

Thurai, Merhala; Bringi, Viswanathan; Kennedy, Patrick; Notaros, Branislav; Gatlin, Patrick

2017-01-01

Accurate measurements of rain drop size distributions (DSD), with particular emphasis on small and tiny drops, are presented. Measurements were conducted in two very different climate regions, namely Northern Colorado and Northern Alabama. Both datasets reveal a combination of (i) a drizzle mode for drop diameters less than 0.7 mm and (ii) a precipitation mode for larger diameters. Scattering calculations using the DSDs are performed at S and X bands and compared with radar observations for the first location. Our accurate DSDs will improve radar-based rain rate estimates as well as propagation predictions.

Body image and self-esteem in disorders of sex development: A European multicenter study.

PubMed

van de Grift, Tim C; Cohen-Kettenis, Peggy T; de Vries, Annelou L C; Kreukels, Baudewijntje P C

2018-04-01

Disorders/differences of sex development (DSD) refer to congenital conditions with atypical sex development and are associated with psychosexual issues. The aim of this study was to assess body image and self-esteem across the DSD spectrum and to study the impact of diagnosis and mediating characteristics. Data collection was part of dsd-LIFE, a cross-sectional study conducted by 14 European expert clinics on wellbeing and health care evaluation of adults diagnosed with DSD. Main outcome measures in the present analyses were the Body Image Scale and Rosenberg Self-Esteem Scale. Additional data were obtained on treatments, openness, body embarrassment, sexual satisfaction, anxiety, and depression. The participating sample (n = 1,040) included 226 classified as Congenital Adrenal Hyperplasia, 225 as Klinefelter Syndrome, 322 as Turner Syndrome, and 267 as conditions with 46,XY karyotype. Many participants had received hormonal and surgical treatments. Participants scored lower on body image and self-esteem compared to control values, whereas each diagnosis showed different areas of concern. Limited openness, body embarrassment, and sexual issues were frequently reported. Overall body satisfaction was associated with BMI, hormone use, openness, body embarrassment, anxiety, and depression; genital satisfaction with age at diagnosis, openness, sexual satisfaction, and body embarrassment. Body embarrassment, anxiety, and depression predicted lower self-esteem. While each DSD showed specific issues related to body image and self-esteem, our findings indicate that the related factors were similar across the conditions. Clinical care on this subject could be improved by giving specific attention to factors like openness, body embarrassment, sexuality, anxiety, and depression. (PsycINFO Database Record (c) 2018 APA, all rights reserved).

Identification of an AR Mutation-Negative Class of Androgen Insensitivity by Determining Endogenous AR Activity.

PubMed

Hornig, N C; Ukat, M; Schweikert, H U; Hiort, O; Werner, R; Drop, S L S; Cools, M; Hughes, I A; Audi, L; Ahmed, S F; Demiri, J; Rodens, P; Worch, L; Wehner, G; Kulle, A E; Dunstheimer, D; Müller-Roßberg, E; Reinehr, T; Hadidi, A T; Eckstein, A K; van der Horst, C; Seif, C; Siebert, R; Ammerpohl, O; Holterhus, P-M

2016-11-01

Only approximately 85% of patients with a clinical diagnosis complete androgen insensitivity syndrome and less than 30% with partial androgen insensitivity syndrome can be explained by inactivating mutations in the androgen receptor (AR) gene. The objective of the study was to clarify this discrepancy by in vitro determination of AR transcriptional activity in individuals with disorders of sex development (DSD) and male controls. Quantification of DHT-dependent transcriptional induction of the AR target gene apolipoprotein D (APOD) in cultured genital fibroblasts (GFs) (APOD assay) and next-generation sequencing of the complete coding and noncoding AR locus. The study was conducted at a university hospital endocrine research laboratory. GFs from 169 individuals were studied encompassing control males (n = 68), molecular defined DSD other than androgen insensitivity syndrome (AIS; n = 18), AR mutation-positive AIS (n = 37), and previously undiagnosed DSD including patients with a clinical suspicion of AIS (n = 46). There were no interventions. DHT-dependent APOD expression in cultured GF and AR mutation status in 169 individuals was measured. The APOD assay clearly separated control individuals (healthy males and molecular defined DSD patients other than AIS) from genetically proven AIS (cutoff < 2.3-fold APOD-induction; 100% sensitivity, 93.3% specificity, P < .0001). Of 46 DSD individuals with no AR mutation, 17 (37%) fell below the cutoff, indicating disrupted androgen signaling. AR mutation-positive AIS can be reliably identified by the APOD assay. Its combination with next-generation sequencing of the AR locus uncovered an AR mutation-negative, new class of androgen resistance, which we propose to name AIS type II. Our data support the existence of cellular components outside the AR affecting androgen signaling during sexual differentiation with high clinical relevance.

Copy Number Variation in Patients with Disorders of Sex Development Due to 46,XY Gonadal Dysgenesis

PubMed Central

White, Stefan; Ohnesorg, Thomas; Notini, Amanda; Roeszler, Kelly; Hewitt, Jacqueline; Daggag, Hinda; Smith, Craig; Turbitt, Erin; Gustin, Sonja; van den Bergen, Jocelyn; Miles, Denise; Western, Patrick; Arboleda, Valerie; Schumacher, Valerie; Gordon, Lavinia; Bell, Katrina; Bengtsson, Henrik; Speed, Terry; Hutson, John; Warne, Garry; Harley, Vincent; Koopman, Peter; Vilain, Eric; Sinclair, Andrew

2011-01-01

Disorders of sex development (DSD), ranging in severity from mild genital abnormalities to complete sex reversal, represent a major concern for patients and their families. DSD are often due to disruption of the genetic programs that regulate gonad development. Although some genes have been identified in these developmental pathways, the causative mutations have not been identified in more than 50% 46,XY DSD cases. We used the Affymetrix Genome-Wide Human SNP Array 6.0 to analyse copy number variation in 23 individuals with unexplained 46,XY DSD due to gonadal dysgenesis (GD). Here we describe three discrete changes in copy number that are the likely cause of the GD. Firstly, we identified a large duplication on the X chromosome that included DAX1 (NR0B1). Secondly, we identified a rearrangement that appears to affect a novel gonad-specific regulatory region in a known testis gene, SOX9. Surprisingly this patient lacked any signs of campomelic dysplasia, suggesting that the deletion affected expression of SOX9 only in the gonad. Functional analysis of potential SRY binding sites within this deleted region identified five putative enhancers, suggesting that sequences additional to the known SRY-binding TES enhancer influence human testis-specific SOX9 expression. Thirdly, we identified a small deletion immediately downstream of GATA4, supporting a role for GATA4 in gonad development in humans. These CNV analyses give new insights into the pathways involved in human gonad development and dysfunction, and suggest that rearrangements of non-coding sequences disturbing gene regulation may account for significant proportion of DSD cases. PMID:21408189

A comprehensive pathophysiology of dandruff and seborrheic dermatitis - towards a more precise definition of scalp health.

PubMed

Schwartz, James R; Messenger, Andrew G; Tosti, Antonella; Todd, Gail; Hordinsky, Maria; Hay, Roderick J; Wang, Xuemin; Zachariae, Claus; Kerr, Kathy M; Henry, James P; Rust, Rene C; Robinson, Michael K

2013-03-27

Despite an increasing knowledge of dandruff and seborrheic dermatitis (D/SD), the pathophysiological understanding is still incomplete but suggests a role of Malassezia yeasts in triggering inflammatory and hyper-proliferative epidermal responses. The objective of this report is to review published literature from in vivo studies of D/SD populations to provide a more complete description of overall scalp health. New biomolecular capabilities establish a depth of pathophysiological understanding not previously achievable with traditional means of investigation. Biomarkers representing inflammation, hyper-proliferation and barrier function are all perturbed by the D/SD condition and robustly respond to therapeutic resolution. These biomarkers can be sampled noninvasively, enabling their use in routine clinical evaluations as either surrogate endpoints or complementary ones to classical signs/symptoms to broaden the etiological learning.

Stochastic anomaly of methylome but persistent SRY hypermethylation in disorder of sex development in canine somatic cell nuclear transfer

PubMed Central

Jeong, Young-Hee; Lu, Hanlin; Park, Chi-Hun; Li, Meiyan; Luo, Huijuan; Kim, Joung Joo; Liu, Siyang; Ko, Kyeong Hee; Huang, Shujia; Hwang, In Sung; Kang, Mi Na; Gong, Desheng; Park, Kang Bae; Choi, Eun Ji; Park, Jung Hyun; Jeong, Yeon Woo; Moon, Changjong; Hyun, Sang-Hwan; Kim, Nam Hyung; Jeung, Eui-Bae; Yang, Huanming; Hwang, Woo Suk; Gao, Fei

2016-01-01

Somatic cell nuclear transfer (SCNT) provides an excellent model for studying epigenomic reprogramming during mammalian development. We mapped the whole genome and whole methylome for potential anomalies of mutations or epimutations in SCNT-generated dogs with XY chromosomal sex but complete gonadal dysgenesis, which is classified as 78, XY disorder of sex development (DSD). Whole genome sequencing revealed no potential genomic variations that could explain the pathogenesis of DSD. However, extensive but stochastic anomalies of genome-wide DNA methylation were discovered in these SCNT DSD dogs. Persistent abnormal hypermethylation of the SRY gene was observed together with its down-regulated mRNA and protein expression. Failure of SRY expression due to hypermethylation was further correlated with silencing of a serial of testis determining genes, including SOX9, SF1, SOX8, AMH and DMRT1 in an early embryonic development stage at E34 in the XYDSD gonad, and high activation of the female specific genes, including FOXL2, RSPO1, CYP19A1, WNT4, ERα and ERβ, after one postnatal year in the ovotestis. Our results demonstrate that incomplete demethylation on the SRY gene is the driving cause of XYDSD in these XY DSD dogs, indicating a central role of epigenetic regulation in sex determination. PMID:27501986

Disorders of Sex Development with Testicular Differentiation in SRY-Negative 46,XX Individuals: Clinical and Genetic Aspects.

PubMed

Grinspon, Romina P; Rey, Rodolfo A

2016-01-01

Virilisation of the XX foetus is the result of androgen excess, resulting most frequently from congenital adrenal hyperplasia in individuals with typical ovarian differentiation. In rare cases, 46,XX gonads may differentiate into testes, a condition known as 46,XX testicular disorders of sex development (DSD), or give rise to the coexistence of ovarian and testicular tissue, a condition known as 46,XX ovotesticular DSD. Testicular tissue differentiation may be due to the translocation of SRY to the X chromosome or an autosome. In the absence of SRY, overexpression of other pro-testis genes, e.g. SOX family genes, or failure of pro-ovarian/anti-testis genes, such as WNT4 and RSPO1, may underlie the development of testicular tissue. Recent experimental and clinical evidence giving insight into SRY-negative 46,XX testicular or ovotesticular DSD is discussed. © 2016 S. Karger AG, Basel.

Structural Damage Prediction and Analysis for Hypervelocity Impact. UDRI Light Gas Gun Test Data Summaries

NASA Technical Reports Server (NTRS)

1995-01-01

The HEX bumper was originally developed for use with the Defensive Shields Demonstration (DSD) Program. The University of Dayton Research Institute was a subcontractor to the Martin Marietta Astronautics Group in Denver Colorado at the time the HEX bumper was designed for use on the DSD Program. The design originated at the University and was essentially made available to interested parties. All HEX bumpers used in the DSD Program were fabricated at the University by rolling sheet stock through a special set of rollers. Two pieces of 3003-H14 aluminum sheet were rolled to produce the bumpers evaluated in Shots 4-1302 and 4-1304. A brief summary of the results of these tests is given in below. Contact prints of the multiple-exposure, orthogonal view radiographs of the debris clouds produced by the tests are attached. A sketch of the HEX bumper design is also attached.

Differences in anxiety and depression between male and female caregivers of children with a disorder of sex development.

PubMed

Wolfe-Christensen, Cortney; Fedele, David A; Mullins, Larry L; Lakshmanan, Yegappan; Wisniewski, Amy B

2014-07-01

To examine whether male and female caregivers of children with a disorder of sex development (DSD) differ in levels of anxious and depressive symptoms. Participants included 80 caregivers (40 males, 40 females) of 40 children with a DSD. Children were categorized based on illness characteristics including ambiguous genitalia, life-threatening, and life-threatening with ambiguous genitalia. Caregivers completed measures of anxious and depressive symptoms. A significant caregiver × diagnosis interaction for anxious symptoms emerged, with male caregivers of children with both ambiguous genitalia and a life-threatening condition reporting significantly lower levels of anxious symptoms than female caregivers of the same children. The findings are surprising because of the low level of anxious symptoms reported by male caregivers of children with a complex DSD. It is possible that they have disengaged themselves from the child and/or diagnosis, causing their female counterparts to take on more responsibility.

Vitamin D and parathyroid hormone are associated with gait instability and poor balance performance in mid-age to older aged women.

PubMed

Bird, Marie-Louise; El Haber, Natalie; Batchelor, Frances; Hill, Keith; Wark, John D

2018-01-01

Vitamin D status and parathyroid hormone (PTH) levels influence the risk of accidental falls in older people, but the mechanisms underlying this effect remain unclear. Investigate the relationship between circulating PTH and 25 hydroxyvitamin D (25-OHD) levels and clinical tests of gait stability and balance as physical fall risk factors. We hypothesized that high levels of PTH and low 25-OHD levels would be significantly associated with gait stability and decreased balance performance. Observational cohort study. Australian community. 119 healthy, ambulatory female twin adults aged 47-80 years residing in Victoria, Australia. Serum PTH and 25-OHD levels with clinical tests of gait stability [double support duration (DSD)] and dynamic balance (Step Test). Associations were investigated by regression analysis and by comparing groups divided by tertiles of PTH (<3.5, 3.5-4.9, >4.9pmol/L) and 25-OHD (<53, 53-75, >75 nmol/L) using analysis of variance. Serum PTH was associated positively with DSD, with an increase of 10.6-15.7% when the mid and highest PTH tertiles were compared to the lowest tertile (p <0.025) when 25-OHD was included in the regression analysis. 25-OHD was significantly associated with DSD (greater by 10.6-11.1% when lowest and mid-tertiles compared with the highest 25-OHD tertile) (p <0.025) and dynamic balance (better performance by 12.6% in the highest compared with the lowest 25OHD tertile) (p <0.025). These findings reveal an important new relationship between parathyroid hormone and gait stability parameters and add to understanding of the role of 25-OHD in motor control of gait and dynamic balance in community-dwelling women across a wide age span. Copyright © 2017 Elsevier B.V. All rights reserved.

Ground Validation Assessments of GPM Core Observatory Science Requirements

NASA Astrophysics Data System (ADS)

Petersen, Walt; Huffman, George; Kidd, Chris; Skofronick-Jackson, Gail

2017-04-01

NASA Global Precipitation Measurement (GPM) Mission science requirements define specific measurement error standards for retrieved precipitation parameters such as rain rate, raindrop size distribution, and falling snow detection on instantaneous temporal scales and spatial resolutions ranging from effective instrument fields of view [FOV], to grid scales of 50 km x 50 km. Quantitative evaluation of these requirements intrinsically relies on GPM precipitation retrieval algorithm performance in myriad precipitation regimes (and hence, assumptions related to physics) and on the quality of ground-validation (GV) data being used to assess the satellite products. We will review GPM GV products, their quality, and their application to assessing GPM science requirements, interleaving measurement and precipitation physical considerations applicable to the approaches used. Core GV data products used to assess GPM satellite products include 1) two minute and 30-minute rain gauge bias-adjusted radar rain rate products and precipitation types (rain/snow) adapted/modified from the NOAA/OU multi-radar multi-sensor (MRMS) product over the continental U.S.; 2) Polarimetric radar estimates of rain rate over the ocean collected using the K-Pol radar at Kwajalein Atoll in the Marshall Islands and the Middleton Island WSR-88D radar located in the Gulf of Alaska; and 3) Multi-regime, field campaign and site-specific disdrometer-measured rain/snow size distribution (DSD), phase and fallspeed information used to derive polarimetric radar-based DSD retrievals and snow water equivalent rates (SWER) for comparison to coincident GPM-estimated DSD and precipitation rates/types, respectively. Within the limits of GV-product uncertainty we demonstrate that the GPM Core satellite meets its basic mission science requirements for a variety of precipitation regimes. For the liquid phase, we find that GPM radar-based products are particularly successful in meeting bias and random error requirements associated with retrievals of rain rate and required +/- 0.5 millimeter error bounds for mass-weighted mean drop diameter. Version-04 (V4) GMI GPROF radiometer-based rain rate products exhibit reasonable agreement with GV, but do not completely meet mission science requirements over the continental U.S. for lighter rain rates (e.g., 1 mm/hr) due to excessive random error ( 75%). Importantly, substantial corrections were made to the V4 GPROF algorithm and preliminary analysis of Version 5 (V5) rain products indicates more robust performance relative to GV. For the frozen phase and a modest GPM requirement to "demonstrate detection of snowfall", DPR products do successfully identify snowfall within the sensitivity and beam sampling limits of the DPR instrument ( 12 dBZ lower limit; lowest clutter-free bins). Similarly, the GPROF algorithm successfully "detects" falling snow and delineates it from liquid precipitation. However, the GV approach to computing falling-snow "detection" statistics is intrinsically tied to GPROF Bayesian algorithm-based thresholds of precipitation "detection" and model analysis temperature, and is not sufficiently tied to SWER. Hence we will also discuss ongoing work to establish the lower threshold SWER for "detection" using combined GV radar, gauge and disdrometer-based case studies.

[Hermaphroditos in Greek mythology--DSD in moderne medicine].

PubMed

Oestmann, A; Mullis, P E; Stanga, Z

2009-01-07

We report a case of 34 year old woman how has been hospitalized at the age of 6 month with persistent vomitus. The vomitus was found to be caused by adrenal insufficiency with lack of all hormones of steroidobiosynthesis. The phenotypical femal child was diagnosed to have congenital lipoid adrenal hyperplasia with 46,XY DSD. 24 years later a homozygote mutation in the StAR-gene (L260P), which was first described in Switzerland, has been identified.

Management framework paradigms for disorders of sex development.

PubMed

Telles-Silveira, Mariana; Knobloch, Felicia; Kater, Claudio E

2015-10-01

Until 2005, questions regarding medical treatment and diagnostic information on Disorders of Sex Development (DSD) were not systematically discussed with both the patients and their families; however, the way these patients are currently treated have been changing with time. Interventional changes in the clinical-psychotherapeutic-surgical areas of DSD determine not only different medical recommendations but also help to place the patient and the family into the decisional process of therapy. We must consider two paradigmatic periods that have influenced and transformed the clinical management framework of patients with DSD: a) The "Money era" (1955), which emphasized the role of the gonads as the diagnostic criterion, having the environment as determinant of the sex identity; and b) The Chicago Consensus (2005) phase, in which the role of genetics and molecular biology was critical for an early identification, as well as in building a proper sex identity, emphasizing ethical questions and the "stigma culture". In addition, recent data have focused on the importance of interdisciplinarity and statements on questions concerning Human Rights as key factors in treatment decision making. Despite each of these management models being able to determine specific directions and recommendations regarding the clinical handling of these patients, we verify that a composite of these several models is the clinical routine nowadays. In the present paper, we discuss these several paradigms, and pinpoint clinical differences and their unfolding regarding management of DSD patients and their families.

Unexpected ethical dilemmas in sex assignment in 46,XY DSD due to 5-alpha reductase type 2 deficiency.

PubMed

Byers, Heather M; Mohnach, Lauren H; Fechner, Patricia Y; Chen, Ming; Thomas, Inas H; Ramsdell, Linda A; Shnorhavorian, Margarett; McCauley, Elizabeth A; Amies Oelschlager, Anne-Marie E; Park, John M; Sandberg, David E; Adam, Margaret P; Keegan, Catherine E

2017-06-01

Sex assignment at birth remains one of the most clinically challenging and controversial topics in 46,XY disorders of sexual development (DSD). This is particularly challenging in deficiency of 5-alpha reductase type 2 given that external genitalia are typically undervirilized at birth but typically virilize at puberty to a variable degree. Historically, most individuals with 5-alpha reductase deficiency were raised females. However, reports that over half of patients who underwent a virilizing puberty adopted an adult male gender identity have challenged this practice. Consensus guidelines on assignment of sex of rearing at birth are equivocal or favor male assignment in the most virilized cases. While a male sex of rearing assignment may avoid lifelong hormonal therapy and/or allow the potential for fertility, female sex assignment may be more consistent with external anatomy in the most severely undervirilized cases. Herein, we describe five patients with 46,XY DSD due 5-alpha-reductase type 2 deficiency, all with a severe phenotype. An inter-disciplinary DSD medical team at one of two academic centers evaluated each patient. This case series illustrates the complicated decision-making process of assignment of sex of rearing at birth in 5-alpha reductase type 2 deficiency and the challenges that arise when the interests of the child, parental wishes, recommendations of the medical team, and state law collide. © 2017 Wiley Periodicals, Inc.

Comparison of Raindrop Size Distribution Measurements by Collocated Disdrometers

NASA Technical Reports Server (NTRS)

Tokay, Ali; Petersen, Walter A.; Gatlin, Patrick; Wingo, Matthew

2013-01-01

An impact-type Joss-Waldvogel disdrometer (JWD), a two-dimensional video disdrometer (2DVD), and a laser optical OTT Particle Size and Velocity (PARSIVEL) disdrometer (PD) were used to measure the raindrop size distribution (DSD) over a 6-month period in Huntsville, Alabama. Comparisons indicate event rain totals for all three disdrometers that were in reasonable agreement with a reference rain gauge. In a relative sense, hourly composite DSDs revealed that the JWD was more sensitive to small drops (,1 mm), while the PD appeared to severely underestimate small drops less than 0.76mm in diameter. The JWD and 2DVD measured comparable number concentrations of midsize drops (1-3mm) and large drops (3-5 mm), while the PD tended to measure relatively higher drop concentrations at sizes larger than 2.44mm in diameter. This concentration disparity tended to occur when hourly rain rates and drop counts exceeded 2.5mm/h and 400/min, respectively. Based on interactions with the PD manufacturer, the partially inhomogeneous laser beam is considered the cause of the PD drop count overestimation. PD drop fall speeds followed the expected terminal fall speed relationship quite well, while the 2DVD occasionally measured slower drops for diameters larger than 2.4mm, coinciding with events where wind speeds were greater than 4m/s. The underestimation of small drops by the PD had a pronounced effect on the intercept and shape of parameters of gamma-fitted DSDs, while the overestimation of midsize and larger drops resulted in higher mean values for PD integral rain parameters

Identification of an AR Mutation-Negative Class of Androgen Insensitivity by Determining Endogenous AR Activity

PubMed Central

Ukat, M.; Schweikert, H. U.; Hiort, O.; Werner, R.; Drop, S. L. S.; Cools, M.; Hughes, I. A.; Audi, L.; Ahmed, S. F.; Demiri, J.; Rodens, P.; Worch, L.; Wehner, G.; Kulle, A. E.; Dunstheimer, D.; Müller-Roßberg, E.; Reinehr, T.; Hadidi, A. T.; Eckstein, A. K.; van der Horst, C.; Seif, C.; Siebert, R.; Ammerpohl, O.; Holterhus, P.-M.

2016-01-01

Context: Only approximately 85% of patients with a clinical diagnosis complete androgen insensitivity syndrome and less than 30% with partial androgen insensitivity syndrome can be explained by inactivating mutations in the androgen receptor (AR) gene. Objective: The objective of the study was to clarify this discrepancy by in vitro determination of AR transcriptional activity in individuals with disorders of sex development (DSD) and male controls. Design: Quantification of DHT-dependent transcriptional induction of the AR target gene apolipoprotein D (APOD) in cultured genital fibroblasts (GFs) (APOD assay) and next-generation sequencing of the complete coding and noncoding AR locus. Setting: The study was conducted at a university hospital endocrine research laboratory. Patients: GFs from 169 individuals were studied encompassing control males (n = 68), molecular defined DSD other than androgen insensitivity syndrome (AIS; n = 18), AR mutation-positive AIS (n = 37), and previously undiagnosed DSD including patients with a clinical suspicion of AIS (n = 46). Intervention(s): There were no interventions. Main Outcome Measure(s): DHT-dependent APOD expression in cultured GF and AR mutation status in 169 individuals was measured. Results: The APOD assay clearly separated control individuals (healthy males and molecular defined DSD patients other than AIS) from genetically proven AIS (cutoff < 2.3-fold APOD-induction; 100% sensitivity, 93.3% specificity, P < .0001). Of 46 DSD individuals with no AR mutation, 17 (37%) fell below the cutoff, indicating disrupted androgen signaling. Conclusions: AR mutation-positive AIS can be reliably identified by the APOD assay. Its combination with next-generation sequencing of the AR locus uncovered an AR mutation-negative, new class of androgen resistance, which we propose to name AIS type II. Our data support the existence of cellular components outside the AR affecting androgen signaling during sexual differentiation with high clinical relevance. PMID:27583472

Sex steroids and variants of gender identity.

PubMed

Meyer-Bahlburg, Heino F L

2013-09-01

This article summarizes for the practicing endocrinologist the current literature on the psychobiology of the development of gender identity and its variants in individuals with disorders of sex development (DSD) or with non-DSD transgenderism. Gender reassignment remains the treatment of choice for strong and persistent gender dysphoria in both categories, but more research is needed on the short-term and long-term effects of puberty-suppressing medications and cross-sex hormones on brain and behavior. Copyright © 2013 Elsevier Inc. All rights reserved.

FRACTAL DIMENSION OF SPIN-GLASSES INTERFACES IN DIMENSION d = 2 AND d = 3 VIA STRONG DISORDER RENORMALIZATION AT ZERO TEMPERATURE

NASA Astrophysics Data System (ADS)

Monthus, Cécile

2015-09-01

For Gaussian Spin-Glasses in low dimensions, we introduce a simple Strong Disorder renormalization at zero temperature in order to construct ground states for Periodic and Anti-Periodic boundary conditions. The numerical study in dimensions d = 2 (up to sizes 20482) and d = 3 (up to sizes 1283) yields that Domain Walls are fractal of dimensions ds(d = 2) ≃ 1.27 and ds(d = 3) ≃ 2.55, respectively.

Notes on the ExactPack Implementation of the DSD Explosive Arc Solver

DOE Office of Scientific and Technical Information (OSTI.GOV)

Kaul, Ann; Doebling, Scott William

It has been shown above that the discretization scheme implemented in the ExactPack solver for the DSD Explosive Arc equation is consistent with the Explosive Arc PDE. In addition, a stability analysis has provided a CFL condition for a stable time step. Together, consistency and stability imply convergence of the scheme, which is expected to be close to first-order in time and second-order in space. It is understood that the nonlinearity of the underlying PDE will affect this rate somewhat.

Ovotesticular disorder of sexual development and a rare 46,XX/47,XXY karyotype.

PubMed

Ozsu, Elif; Mutlu, Gul Yesiltepe; Cizmecioglu, Filiz M; Ekingen, Gülsen; Muezzinoglu, Bahar; Hatun, Sukru

2013-01-01

Ovotesticular disorder of sexual development (DSD) is characterized by the presence of both ovarian and testicular tissues in the same individual. The most common karyotype is 46,XX. Here, we report the case of a boy with a 46,XX/47,XXY karyotype diagnosed as ovotesticular DSD by gonadal biopsy. A 5-month-old boy presented with hypospadias, unilateral cryptorchidism, and a micropenis. Pelvic magnetic resonance imaging revealed a suspicious gonad tissue that is solid in structure in the right scrotum and a suspicious gonad that is cystic in structure in the left inguinal canal. He underwent a diagnostic laparoscopy. Cytogenetic analysis of peripheral blood revealed a 46,XX/47,XXY karyotype. Histopathologic examination of the left gonad showed ovarian tissue containing primordial follicles with ipsilateral undifferentiated tuba uterina. The right gonad showed immature testis tissue. He underwent left gonadectomy and hypospadias repair, and was raised as a male. Through this rare case, we highlight the importance of histological and cytogenetic investigation in DSD.

A Case of Two Sisters Suffering from 46,XY Gonadal Dysgenesis and Carrying a Mutation of a Novel Candidate Sex-Determining Gene STARD8 on the X Chromosome.

PubMed

Ilaslan, Erkut; Calvel, Pierre; Nowak, Dominika; Szarras-Czapnik, Maria; Slowikowska-Hilczer, Jolanta; Spik, Anna; Sararols, Pauline; Nef, Serge; Jaruzelska, Jadwiga; Kusz-Zamelczyk, Kamila

2018-06-08

Identification of novel genes involved in sexual development is crucial for understanding disorders of sex development (DSD). Here, we propose a member of the START domain family, the X chromosome STARD8, as a DSD candidate gene. We have identified a missense mutation of this gene in 2 sisters with 46,XY gonadal dysgenesis, inherited from their heterozygous mother. Gonadal tissue of one of the sisters contained Leydig cells overloaded with cholesterol droplets, i.e., structures previously identified in 46,XY DSD patients carrying mutations in the STAR gene encoding another START domain family member, which is crucial for steroidogenesis. Based on the phenotypes of our patients, we propose a dual role of STARD8 in sexual development, namely in testes determination and testosterone synthesis. However, further studies are needed to confirm the involvement of STARD8 in sexual development. © 2018 S. Karger AG, Basel.

Parenting characteristics of female caregivers of children affected by chronic endocrine conditions: a comparison between disorders of sex development and type 1 diabetes mellitus.

PubMed

Kirk, Katherine D; Fedele, David A; Wolfe-Christensen, Cortney; Phillips, Timothy M; Mazur, Tom; Mullins, Larry L; Chernausek, Steven D; Wisniewski, Amy B

2011-12-01

Rearing a child with a chronic illness is stressful and can potentially affect parenting style, which may result in poorer outcomes for children. The purpose of this study was to compare parenting characteristics of female caregivers rearing children with a disorder of sex development (DSD) to female caregivers rearing children with type 1 diabetes mellitus (T1DM). Caregivers of both groups were matched according to age and compared on measures of stress and parenting practices. Both groups demonstrated significant levels of stress and negative parenting practices. Children with T1DM and male children with non-life-threatening DSD were perceived as more vulnerable by their caregivers. Better understanding of parenting experiences of female caregivers rearing children with DSD, particularly male children, will facilitate the development of individualized interventions to ameliorate negative parenting practices and stress, with the long-term goal of improved health outcomes for their children. Copyright © 2011 Elsevier Inc. All rights reserved.

The assessment of Global Precipitation Measurement estimates over the Indian subcontinent

NASA Astrophysics Data System (ADS)

Murali Krishna, U. V.; Das, Subrata Kumar; Deshpande, Sachin M.; Doiphode, S. L.; Pandithurai, G.

2017-08-01

Accurate and real-time precipitation estimation is a challenging task for current and future spaceborne measurements, which is essential to understand the global hydrological cycle. Recently, the Global Precipitation Measurement (GPM) satellites were launched as a next-generation rainfall mission for observing the global precipitation characteristics. The purpose of the GPM is to enhance the spatiotemporal resolution of global precipitation. The main objective of the present study is to assess the rainfall products from the GPM, especially the Integrated Multi-satellitE Retrievals for the GPM (IMERG) data by comparing with the ground-based observations. The multitemporal scale evaluations of rainfall involving subdaily, diurnal, monthly, and seasonal scales were performed over the Indian subcontinent. The comparison shows that the IMERG performed better than the Tropical Rainfall Measuring Mission (TRMM)-3B42, although both rainfall products underestimated the observed rainfall compared to the ground-based measurements. The analyses also reveal that the TRMM-3B42 and IMERG data sets are able to represent the large-scale monsoon rainfall spatial features but are having region-specific biases. The IMERG shows significant improvement in low rainfall estimates compared to the TRMM-3B42 for selected regions. In the spatial distribution, the IMERG shows higher rain rates compared to the TRMM-3B42, due to its enhanced spatial and temporal resolutions. Apart from this, the characteristics of raindrop size distribution (DSD) obtained from the GPM mission dual-frequency precipitation radar is assessed over the complex mountain terrain site in the Western Ghats, India, using the DSD measured by a Joss-Waldvogel disdrometer.

The Route to Raindrop Formation in a Shallow Cumulus Cloud Simulated by a Lagrangian Cloud Model

NASA Astrophysics Data System (ADS)

Noh, Yign; Hoffmann, Fabian; Raasch, Siegfried

2017-11-01

The mechanism of raindrop formation in a shallow cumulus cloud is investigated using a Lagrangian cloud model (LCM). The analysis is focused on how and under which conditions a cloud droplet grows to a raindrop by tracking the history of individual Lagrangian droplets. It is found that the rapid collisional growth, leading to raindrop formation, is triggered when single droplets with a radius of 20 μm appear in the region near the cloud top, characterized by a large liquid water content, strong turbulence, large mean droplet size, a broad drop size distribution (DSD), and high supersaturations. Raindrop formation easily occurs when turbulence-induced collision enhancement(TICE) is considered, with or without any extra broadening of the DSD by another mechanism (such as entrainment and mixing). In contrast, when TICE is not considered, raindrop formation is severely delayed if no other broadening mechanism is active. The reason leading to the difference is clarified by the additional analysis of idealized box-simulations of the collisional growth process for different DSDs in varied turbulent environments. It is found that TICE does not accelerate the timing of the raindrop formation for individual droplets, but it enhances the collisional growth rate significantly afterward. KMA R & D Program (Korea), DFG (Germany).

Associations of SRAP markers with dried-shrink disease resistance in a germplasm collection of sea buckthorn (Hippophae L.).

PubMed

Li, He; Ruan, Cheng-Jiang; Teixeira da Silva, Jaime A; Liu, Bao-Quan

2010-06-01

Sea buckthorn (Hippophae L.) is a woody, outcrossing dioecious pioneer plant, being widely planted as a new berry crop with rich nutritional and medicinal compounds. This long-juvenile and long-lived woody plant can be more difficult to cultivate than other crop plants. Dried-shrink disease (DSD) is a dangerous pathogen that destroys sea buckthorn and halts commercial production. We estimated variability of sequence-related amplified polymorphism (SRAP) markers in 77 accessions of 22 sea buckthorn cultivars to seek markers associated with DSD resistance and help to identify potential breeding cultivars. Seventeen SRAP primer combinations generated 289 bands, with a mean of 17 bands per primer combination. At a Dice coefficient of 0.852, the dendrogram generated with 191 polymorphic bands clustered 73 accessions of Hippophae rhamnoides into 2 groups and 4 accessions of Hippophae salicifolia into 1 group. Eleven SRAP markers (Me1-Em3(600), Me1-Em1(680), Me2-Em1(650), Me2-Em1(950), Me3-Em6(1300), Me2-Em6(320), Me2-Em6(400), Me1-Em2(600), Me1-Em1(1200), Me1-Em1(1700), Me2-Em2(250)) were significantly correlated with DSD resistance (P < 0.001). These markers provide a viable option for breeding programs that select lineages with DSD resistance, especially when no other genetic information, such as linkage maps and quantitative trait loci, are available.

Urodynamics findings in transverse myelitis patients with lower urinary tract symptoms: Results from a tertiary referral urodynamic center.

PubMed

Gliga, Louise A; Lavelle, Rebecca S; Christie, Alana L; Coskun, Burhan; Greenberg, Benjamin M; Carmel, Maude E; Lemack, Gary E

2017-02-01

To characterize urodynamic findings in patients referred with transverse myelitis (TM) and lower urinary tract symptoms (LUTS), as well as to identify any characteristics predictive of urodynamics findings. This is a retrospective review of an IRB-approved neurogenic bladder database of patients followed by a single surgeon between 2001 and 2013. Patient characteristics, questionnaire data, radiologic studies, and urodynamic parameters were analyzed. Of the 836 patients in the neurogenic bladder database, 28 patients (17 females, 11 males) were referred with a principle diagnosis of TM (3%). Twenty-one of twenty-eight patients (75%) underwent urodynamics testing. Bladder management at initial urologic evaluation was CIC or urethral catheter for 16/28 patients (57.1%). Median MCC was 303 ml (85-840 ml), detrusor overactivity (DO) was present in 16/21 (76%), detrusor sphincter dyssynergia (DSD) in 10/21 (48%), and decreased compliance in 7/21 (33%). For those voiding, mean Qmax was 12 ± 10 ml/sec and pdet at Qmax was 41 ± 17 cmH 2 O. Longitudinally extensive TM (LETM) was the only patient characteristic associated with DO (P = 0.0276). No other patient characteristics were associated with urodynamics parameters. Significant urodynamic testing abnormalities are noted in the majority of TM patients undergoing urodynamics, with 95% having DO, DSD, altered compliance, or detrusor underactivity. Other than the association between LETM and DO, there were no patient characteristics predictive of urodynamics findings. Based on the severity of urodynamics findings in our series, patients with TM and LUTS should have thorough baseline urological evaluations including urodynamics and be offered ongoing surveillance. Neurourol. Urodynam. 36:360-363, 2017. © 2015 Wiley Periodicals, Inc. © 2015 Wiley Periodicals, Inc.

DOE Office of Scientific and Technical Information (OSTI.GOV)

Cecchini, Micael A.; Machado, Luiz A. T.; Comstock, Jennifer M.

The remote atmosphere over the Amazon can be similar to oceanic regions in terms of aerosol conditions and cloud type formations. This is especially true during the wet season. The main aerosol-related disturbances over the Amazon have both natural sources, such as dust transport from Africa, and anthropogenic sources, such as biomass burning or urban pollution. The present work considers the impacts of the latter on the microphysical properties of warm-phase clouds by analysing observations of the interactions between the Manaus pollution plume and its surroundings, as part of the GoAmazon2014/5 Experiment. The analysed period corresponds to the wet seasonmore » (specifically from February to March 2014 and corresponding to the first Intensive Operating Period (IOP1) of GoAmazon2014/5). The droplet size distributions reported are in the range 1 µm ≤ D≤50 µm in order to capture the processes leading up to the precipitation formation. The wet season largely presents a clean background atmosphere characterized by frequent rain showers. As such, the contrast between background clouds and those affected by the Manaus pollution can be observed and detailed. The focus is on the characteristics of the initial microphysical properties in cumulus clouds predominantly at their early stages. The pollution-affected clouds are found to have smaller effective diameters and higher droplet number concentrations. The differences range from 10 to 40% for the effective diameter and are as high as 1000% for droplet concentration for the same vertical levels. The growth rates of droplets with altitude are slower for pollution-affected clouds (2.90 compared to 5.59 µm km ₋1), as explained by the absence of bigger droplets at the onset of cloud development. Clouds under background conditions have higher concentrations of larger droplets (>20 µm) near the cloud base, which would contribute significantly to the growth rates through the collision–coalescence process. The overall shape of the droplet size distribution (DSD) does not appear to be predominantly determined by updraught strength, especially beyond the 20 µm range. The aerosol conditions play a major role in that case. However, the updraughts modulate the DSD concentrations and are responsible for the vertical transport of water in the cloud. The larger droplets found in background clouds are associated with weak water vapour competition and a bimodal distribution of droplet sizes in the lower levels of the cloud, which enables an earlier initiation of the collision–coalescence process. This study shows that the pollution produced by Manaus significantly affects warm-phase microphysical properties of the surrounding clouds by changing the initial DSD formation. The corresponding effects on ice-phase processes and precipitation formation will be the focus of future endeavours.« less

Sex determination and disorders of sex development according to the revised nomenclature and classification in 46,XX individuals.

PubMed

Kousta, Eleni; Papathanasiou, Asteroula; Skordis, Nicos

2010-01-01

There have been considerable advances concerning understanding of the early and later stages of ovarian development; a number of genes have been implicated and their mutations have been associated with developmental abnormalities. The most important genes controlling the initial phase of gonadal development, identical in females and males, are Wilms' tumor suppressor 1 (WT1) and steroidogenic factor 1 (SF1). Four genes are likely to be involved in the subsequent stages of ovarian development (WNT4, DAX1, FOXL2 and RSPO1), but none is yet proven to be the ovarian determining factor. Changes in nomenclature and classification were recently proposed in order to incorporate genetic advances and substitute gender-based diagnostic labels in terminology. The term "disorders of sex development" (DSD) is proposed to substitute the previous term "intersex disorders". Three main categories have been used to describe DSD in the 46,XX individual: 1) disorders of gonadal (ovarian) development: ovotesticular DSD, previously named true hermaphroditism, testicular DSD, previously named XX males, and gonadal dysgenesis; 2) disorders related to androgen excess (congenital adrenal hyperplasia, aromatase deficiency and P450 oxidoreductase deficiency); and 3) other rare disorders. In this mini-review, recent advances concerning development of the genital system in 46,XX individuals and related abnormalities are discussed. Basic embryology of the ovary and molecular pathways determining ovarian development are reviewed, focusing on mutations disrupting normal ovarian development. Disorders of sex development according to the revised nomenclature and classification in 46,XX individuals are summarized, including genetic progress in the field.

NR5A1 is a novel disease gene for 46,XX testicular and ovotesticular disorders of sex development.

PubMed

Baetens, Dorien; Stoop, Hans; Peelman, Frank; Todeschini, Anne-Laure; Rosseel, Toon; Coppieters, Frauke; Veitia, Reiner A; Looijenga, Leendert H J; De Baere, Elfride; Cools, Martine

2017-04-01

We aimed to identify the genetic cause in a cohort of 11 unrelated cases and two sisters with 46,XX SRY-negative (ovo)testicular disorders of sex development (DSD). Whole-exome sequencing (n = 9), targeted resequencing (n = 4), and haplotyping were performed. Immunohistochemistry of sex-specific markers was performed on patients' gonads. The consequences of mutation were investigated using luciferase assays, localization studies, and RNA-seq. We identified a novel heterozygous NR5A1 mutation, c.274C>T p.(Arg92Trp), in three unrelated patients. The Arg92 residue is highly conserved and located in the Ftz-F1 region, probably involved in DNA-binding specificity and stability. There were no consistent changes in transcriptional activation or subcellular localization. Transcriptomics in patient-derived lymphocytes showed upregulation of MAMLD1, a direct NR5A1 target previously associated with 46,XY DSD. In gonads of affected individuals, ovarian FOXL2 and testicular SRY-independent SOX9 expression observed. We propose NR5A1, previously associated with 46,XY DSD and 46,XX primary ovarian insufficiency, as a novel gene for 46,XX (ovo)testicular DSD. We hypothesize that p.(Arg92Trp) results in decreased inhibition of the male developmental pathway through downregulation of female antitestis genes, thereby tipping the balance toward testicular differentiation in 46,XX individuals. In conclusion, our study supports a role for NR5A1 in testis differentiation in the XX gonad.Genet Med 19 4, 367-376.

Building Trust: The History and Ongoing Relationships Amongst DSD Clinicians, Researchers, and Patient Advocacy Groups.

PubMed

Lossie, A C; Green, J

2015-05-01

Individuals born with differences or disorders of sex development (DSD) have been marginalized by society and the health care system. Standards of care in the mid-20(th) century were based on fixing the child with a DSD, using hormonal and surgical interventions; these treatments and the diagnoses were almost never disclosed to the child, and sometimes they were not disclosed to the parents. This led to secrecy, shame, and stigma. When these children became adults and demanded access to their medical records, the realization of the depth of secrecy led to the formation of activism groups that shook the medical community. Despite precarious beginnings, advocates, health care professionals, and researchers were able to elicit changes in the standard of care. The 2006 Consensus Statement on Management of Intersex Disorders called for a multidisciplinary approach to care and questioned the evidence for many of the standard procedures. Standard of care moved from a concealment model to a patient-centered paradigm, and funding agencies put resources into determining the future paths of research on DSD. Recognition of the need to address patient priorities led to changing international standards for including patients in research design. Some challenges that remain include: the findings from the Institute of Medicine that sexual and gender minorities experience poor health outcomes; establishing trust across all parties; developing a common language and creating venues where individuals can participate in dialogue that addresses personal experiences, research design, clinical practices and intervention strategies. © Georg Thieme Verlag KG Stuttgart · New York.

Plant utilization against digestive system disorder in Southern Assam, India.

PubMed

Choudhury, Prakash Roy; Choudhury, Manabendra Dutta; Ningthoujam, Sanjoy Singh; Mitra, Abhijit; Nath, Deepa; Talukdar, Anupam Das

2015-12-04

Being one of the most common types of life threatening diseases in Southern Assam, India, the digestive system disorders (DSD) have gained much attention in recent decades. Traditional beliefs and inadequate income of mass population result in the use of alternative phytotherapies to treat the diseases. The present paper documents the medicinal knowledge and utilization of plants for treatment of digestive system disorders in Southern Assam, India by Disease Consensus Index (DCI). It also determines the most suitable plant species used to treat digestive system disorders in the study area. The study was based on ethnomedicinal field survey covering a period of 1 year from 2014-2015. The ethnomedicinal information was collected by using semi-structured questionnaires from different traditional Bengali people having knowledge on medicinal plants. Collected data were analyzed by calculating DCI. During the survey, 29 informants were interviewed and a total of 49 plants under 46 genera belonging to 33 families were listed. Data analysis revealed that Litsea glutinosa, Momordica charantia, Andrographis paniculata, Lawsonia inermis, Cleome viscosa, Psidium guajava, Ageratum conyzoides, Cuscuta reflexa, Cynodon dactylon and Carica papaya are the most prominent plants among the people of Southern Assam for treating DSD. This explorative survey emphasizes the need to preserve and document the traditional healing practices for managing DSD inviting for more imminent scientific research on the plants to determine their efficacy as well as safety. With the help of statistical analysis (DCI), we propose 10 priority plants for DSD in present work. Systematic pharmacological study with these plants may contribute significant result. Copyright © 2015 Elsevier Ireland Ltd. All rights reserved.

NR5A1 is a novel disease gene for 46,XX testicular and ovotesticular disorders of sex development

PubMed Central

Baetens, Dorien; Stoop, Hans; Peelman, Frank; Todeschini, Anne-Laure; Rosseel, Toon; Coppieters, Frauke; Veitia, Reiner A.; Looijenga, Leendert H.J.; De Baere, Elfride; Cools, Martine

2017-01-01

Purpose: We aimed to identify the genetic cause in a cohort of 11 unrelated cases and two sisters with 46,XX SRY-negative (ovo)testicular disorders of sex development (DSD). Methods: Whole-exome sequencing (n = 9), targeted resequencing (n = 4), and haplotyping were performed. Immunohistochemistry of sex-specific markers was performed on patients' gonads. The consequences of mutation were investigated using luciferase assays, localization studies, and RNA-seq. Results: We identified a novel heterozygous NR5A1 mutation, c.274C>T p.(Arg92Trp), in three unrelated patients. The Arg92 residue is highly conserved and located in the Ftz-F1 region, probably involved in DNA-binding specificity and stability. There were no consistent changes in transcriptional activation or subcellular localization. Transcriptomics in patient-derived lymphocytes showed upregulation of MAMLD1, a direct NR5A1 target previously associated with 46,XY DSD. In gonads of affected individuals, ovarian FOXL2 and testicular SRY-independent SOX9 expression observed. Conclusions: We propose NR5A1, previously associated with 46,XY DSD and 46,XX primary ovarian insufficiency, as a novel gene for 46,XX (ovo)testicular DSD. We hypothesize that p.(Arg92Trp) results in decreased inhibition of the male developmental pathway through downregulation of female antitestis genes, thereby tipping the balance toward testicular differentiation in 46,XX individuals. In conclusion, our study supports a role for NR5A1 in testis differentiation in the XX gonad. Genet Med 19 4, 367–376. PMID:27490115

Testicular differentiation factor SF-1 is required for human spleen development

PubMed Central

Zangen, David; Kaufman, Yotam; Banne, Ehud; Weinberg-Shukron, Ariella; Abulibdeh, Abdulsalam; Garfinkel, Benjamin P.; Dweik, Dima; Kanaan, Moein; Camats, Núria; Flück, Christa; Renbaum, Paul; Levy-Lahad, Ephrat

2014-01-01

The transcription factor steroidogenic factor 1 (SF-1; also known as NR5A1) is a crucial mediator of both steroidogenic and nonsteroidogenic tissue differentiation. Mutations within SF1 underlie different disorders of sexual development (DSD), including sex reversal, spermatogenic failure, ovarian insufficiency, and adrenocortical deficiency. Here, we identified a recessive mutation within SF1 that resulted in a substitution of arginine to glutamine at codon 103 (R103Q) in a child with both severe 46,XY-DSD and asplenia. The R103Q mutation decreased SF-1 transactivation of TLX1, a transcription factor that has been shown to be essential for murine spleen development. Additionally, the SF1 R103Q mutation impaired activation of steroidogenic genes, without affecting synergistic SF-1 and sex-determining region Y (SRY) coactivation of the testis development gene SOX9. Together, our data provide evidence that SF-1 is required for spleen development in humans via transactivation of TLX1 and that mutations that only impair steroidogenesis, without altering the SF1/SRY transactivation of SOX9, can lead to 46,XY-DSD. PMID:24905461

DOE Office of Scientific and Technical Information (OSTI.GOV)

Miranda, Adelaide; De Beule, Pieter A. A., E-mail: pieter.de-beule@inl.int; Martins, Marco

Combined microscopy techniques offer the life science research community a powerful tool to investigate complex biological systems and their interactions. Here, we present a new combined microscopy platform based on fluorescence optical sectioning microscopy through aperture correlation microscopy with a Differential Spinning Disk (DSD) and nanomechanical mapping with an Atomic Force Microscope (AFM). The illumination scheme of the DSD microscope unit, contrary to standard single or multi-point confocal microscopes, provides a time-independent illumination of the AFM cantilever. This enables a distortion-free simultaneous operation of fluorescence optical sectioning microscopy and atomic force microscopy with standard probes. In this context, we discussmore » sample heating due to AFM cantilever illumination with fluorescence excitation light. Integration of a DSD fluorescence optical sectioning unit with an AFM platform requires mitigation of mechanical noise transfer of the spinning disk. We identify and present two solutions to almost annul this noise in the AFM measurement process. The new combined microscopy platform is applied to the characterization of a DOPC/DOPS (4:1) lipid structures labelled with a lipophilic cationic indocarbocyanine dye deposited on a mica substrate.« less

Notes on the ExactPack Implementation of the DSD Rate Stick Solver

DOE Office of Scientific and Technical Information (OSTI.GOV)

Kaul, Ann

It has been shown above that the discretization scheme implemented in the ExactPack solver for the DSD Rate Stick equation is consistent with the Rate Stick PDE. In addition, a stability analysis has provided a CFL condition for a stable time step. Together, consistency and stability imply convergence of the scheme, which is expected to be close to first-order in time and second-order in space. It is understood that the nonlinearity of the underlying PDE will affect this rate somewhat. In the solver I implemented in ExactPack, I used the one-sided boundary condition described above at the outer boundary. Inmore » addition, I used 80% of the time step calculated in the stability analysis above. By making these two changes, I was able to implement a solver that calculates the solution without any arbitrary limits placed on the values of the curvature at the boundary. Thus, the calculation is driven directly by the conditions at the boundary as formulated in the DSD theory. The chosen scheme is completely coherent and defensible from a mathematical standpoint.« less

Surprising performance for vibrational frequencies of the distinguishable clusters with singles and doubles (DCSD) and MP2.5 approximations

NASA Astrophysics Data System (ADS)

Kesharwani, Manoj K.; Sylvetsky, Nitai; Martin, Jan M. L.

2017-11-01

We show that the DCSD (distinguishable clusters with all singles and doubles) correlation method permits the calculation of vibrational spectra at near-CCSD(T) quality but at no more than CCSD cost, and with comparatively inexpensive analytical gradients. For systems dominated by a single reference configuration, even MP2.5 is a viable alternative, at MP3 cost. MP2.5 performance for vibrational frequencies is comparable to double hybrids such as DSD-PBEP86-D3BJ, but without resorting to empirical parameters. DCSD is also quite suitable for computing zero-point vibrational energies in computational thermochemistry.

A salient region detection model combining background distribution measure for indoor robots.

PubMed

Li, Na; Xu, Hui; Wang, Zhenhua; Sun, Lining; Chen, Guodong

2017-01-01

Vision system plays an important role in the field of indoor robot. Saliency detection methods, capturing regions that are perceived as important, are used to improve the performance of visual perception system. Most of state-of-the-art methods for saliency detection, performing outstandingly in natural images, cannot work in complicated indoor environment. Therefore, we propose a new method comprised of graph-based RGB-D segmentation, primary saliency measure, background distribution measure, and combination. Besides, region roundness is proposed to describe the compactness of a region to measure background distribution more robustly. To validate the proposed approach, eleven influential methods are compared on the DSD and ECSSD dataset. Moreover, we build a mobile robot platform for application in an actual environment, and design three different kinds of experimental constructions that are different viewpoints, illumination variations and partial occlusions. Experimental results demonstrate that our model outperforms existing methods and is useful for indoor mobile robots.

Space-time VMS computation of wind-turbine rotor and tower aerodynamics

NASA Astrophysics Data System (ADS)

Takizawa, Kenji; Tezduyar, Tayfun E.; McIntyre, Spenser; Kostov, Nikolay; Kolesar, Ryan; Habluetzel, Casey

2014-01-01

We present the space-time variational multiscale (ST-VMS) computation of wind-turbine rotor and tower aerodynamics. The rotor geometry is that of the NREL 5MW offshore baseline wind turbine. We compute with a given wind speed and a specified rotor speed. The computation is challenging because of the large Reynolds numbers and rotating turbulent flows, and computing the correct torque requires an accurate and meticulous numerical approach. The presence of the tower increases the computational challenge because of the fast, rotational relative motion between the rotor and tower. The ST-VMS method is the residual-based VMS version of the Deforming-Spatial-Domain/Stabilized ST (DSD/SST) method, and is also called "DSD/SST-VMST" method (i.e., the version with the VMS turbulence model). In calculating the stabilization parameters embedded in the method, we are using a new element length definition for the diffusion-dominated limit. The DSD/SST method, which was introduced as a general-purpose moving-mesh method for computation of flows with moving interfaces, requires a mesh update method. Mesh update typically consists of moving the mesh for as long as possible and remeshing as needed. In the computations reported here, NURBS basis functions are used for the temporal representation of the rotor motion, enabling us to represent the circular paths associated with that motion exactly and specify a constant angular velocity corresponding to the invariant speeds along those paths. In addition, temporal NURBS basis functions are used in representation of the motion and deformation of the volume meshes computed and also in remeshing. We name this "ST/NURBS Mesh Update Method (STNMUM)." The STNMUM increases computational efficiency in terms of computer time and storage, and computational flexibility in terms of being able to change the time-step size of the computation. We use layers of thin elements near the blade surfaces, which undergo rigid-body motion with the rotor. We compare the results from computations with and without tower, and we also compare using NURBS and linear finite element basis functions in temporal representation of the mesh motion.

Space-Time VMS Computation of Wind-Turbine Rotor and Tower Aerodynamics

NASA Astrophysics Data System (ADS)

McIntyre, Spenser W.

This thesis is on the space{time variational multiscale (ST-VMS) computation of wind-turbine rotor and tower aerodynamics. The rotor geometry is that of the NREL 5MW offshore baseline wind turbine. We compute with a given wind speed and a specified rotor speed. The computation is challenging because of the large Reynolds numbers and rotating turbulent ows, and computing the correct torque requires an accurate and meticulous numerical approach. The presence of the tower increases the computational challenge because of the fast, rotational relative motion between the rotor and tower. The ST-VMS method is the residual-based VMS version of the Deforming-Spatial-Domain/Stabilized ST (DSD/SST) method, and is also called "DSD/SST-VMST" method (i.e., the version with the VMS turbulence model). In calculating the stabilization parameters embedded in the method, we are using a new element length definition for the diffusion-dominated limit. The DSD/SST method, which was introduced as a general-purpose moving-mesh method for computation of ows with moving interfaces, requires a mesh update method. Mesh update typically consists of moving the mesh for as long as possible and remeshing as needed. In the computations reported here, NURBS basis functions are used for the temporal representation of the rotor motion, enabling us to represent the circular paths associated with that motion exactly and specify a constant angular velocity corresponding to the invariant speeds along those paths. In addition, temporal NURBS basis functions are used in representation of the motion and deformation of the volume meshes computed and also in remeshing. We name this "ST/NURBS Mesh Update Method (STNMUM)." The STNMUM increases computational efficiency in terms of computer time and storage, and computational exibility in terms of being able to change the time-step size of the computation. We use layers of thin elements near the blade surfaces, which undergo rigid-body motion with the rotor. We compare the results from computations with and without tower, and we also compare using NURBS and linear finite element basis functions in temporal representation of the mesh motion.

A rare case of lateral ovotesticular disorder with Klinefelter syndrome mosaicism 46, XX/47, XXY: An unusual presentation.

PubMed

Talreja, Shyam M; Banerjee, Indraneel; Yadav, Sher Singh; Tomar, Vinay

2015-01-01

Ovotesticular disorder of sex development (OT-DSD) is a rare disorder of sexual differentiation characterized by the presence of both ovarian and testicular tissues in the same individual. It's incidence ranges from 3% to 10% of all disorder of DSD's, and the most common presentation is 46, XX followed by 46, XX/46, XY mosaicism and 46, XY. Klinefelter syndrome (KS) mosaicism 46, XX/47, XXY is extremely rare, and its association with the ovotesticular disorder is even rarer. We report an unusual case of 16-year-old with male habitus who presented with complains of cyclic hematuria. On examination, he had bilateral gynecomastia, unilateral left cryptorchidism, absent facial hair, sparse axillary hair growth, and pubic hair distribution of feminine type. The right testis was of normal size located normally in hemiscrotum and was confirmed by radio imaging. Ultrasonography and magnetic resonance imaging revealed a cystic area behind posterior half of urinary bladder. Chromosomal analysis revealed 46, XX/47, XXY mosaicism of female karyotype and KS. Histopathological report of this left side excised specimen confirmed the structures to be ovary, uterus, and fallopian tube, thus confirming our diagnosis of the lateral ovotesticular disorder. Meticulous workup combined interdisciplinary approach will lead to early diagnosis and resolve timely sex reassignment issues and also prevent consequences arising due to gonadal insufficiency.

Incidence, Prevalence, Diagnostic Delay, and Clinical Presentation of Female 46,XY Disorders of Sex Development.

PubMed

Berglund, Agnethe; Johannsen, Trine H; Stochholm, Kirstine; Viuff, Mette H; Fedder, Jens; Main, Katharina M; Gravholt, Claus H

2016-12-01

The prevalence of phenotypic females with a 46,XY karyotype is low, thus current knowledge about age and clinical presentation at diagnosis is sparse even for the most frequent conditions, androgen insensitivity syndrome (AIS), and gonadal dysgenesis. To estimate incidence, prevalence, age at diagnosis, and clinical presentation at diagnosis in 46,XY females. A nationwide study covering all known females with a 46,XY karyotype in Denmark since 1960. The diagnosis of 46,XY disorder of sex development (DSD) was determined by medical record evaluation, data from the Danish National Patient Registry, and genetic testing, if available. A total of 166 females registered as 46,XY females in the Danish Cytogenetic Central Registry were identified. A total of 124 females were classified as having 46,XY DSD, 78 with AIS and 25 with gonadal dysgenesis, whereas the remaining subjects had a variety of different diagnoses. The prevalence of 46,XY females was 6.4 per 100 000 live born females, and for AIS and gonadal dysgenesis, it was 4.1 and 1.5 per 100 000, respectively. Median age at diagnosis was 7.5 years (95% confidence interval, 4.0-13.5; range, 0-34 y) in AIS and 17.0 years (95% confidence interval, 15.5-19.0; range, 0-28 y) in gonadal dysgenesis (P = .001). Clinical presentation was dependent on cause of DSD. The first estimate on prevalence of 46,XY females is 6.4 per 100 000 live born females. The presentation of AIS and gonadal dysgenesis is distinctly different, with AIS being diagnosed during childhood and gonadal dysgenesis during pubertal years. The presenting phenotype is dependent on the cause of 46,XY DSD.

Novel mutations of the SRD5A2 and AR genes in Thai patients with 46, XY disorders of sex development.

PubMed

Ittiwut, Chupong; Pratuangdejkul, Jaturong; Supornsilchai, Vichit; Muensri, Sasipa; Hiranras, Yodporn; Sahakitrungruang, Taninee; Watcharasindhu, Suttipong; Suphapeetiporn, Kanya; Shotelersuk, Vorasuk

2017-01-01

Abnormalities of dihydrotestosterone conversion [5α-reductase deficiency: online Mendelian inheritance in man (OMIM) 607306] or actions of androgens [partial androgen insensitivity syndrome (PAIS): OMIM 312300] during the 8th-12th weeks of gestation cause varying degrees of undervirilized external genitalia in 46, XY disorders of sex development (DSD) with increased testosterone production. The objective of the study was to determine clinical and genetic characteristics of Thai patients with 46, XY DSD. A cross-sectional study was conducted in 46, XY DSD with increased testosterone production (n=43) evaluated by a human chorionic gonadotropin (hCG) stimulation test or clinical features consistent with 5α-reductase deficiency or PAIS. PCR sequencing of the entire coding regions of the SRD5A2 and AR genes was performed. Molecular modeling analysis of the androgen receptor-ligand-binding domain (AR-LBD) of a novel mutation was constructed. Mutations were found in seven patients (16.3%): five (11.6%) and two (4.7%) patients had mutations in SRD5A2 and AR, respectively. Two novel mutations, SRD5A2 c.383A>G (p.Y128C) and AR c.2176C>T (p.R726C), were identified. Dimensional structural analysis of the novel mutated AR (p.R726C) revealed that it affected the co-activator binding [binding function-3 (BF-3)], not the testosterone binding site. Short phallus length was associated with 5α-reductase deficiency. Around 16.3% of our patients with 46, XY DSD had 5α-reductase deficiency or PAIS. Two novel mutations of SRD5A2 and AR were identified. The novel mutated AR (p.R726C) might affect the co-activator binding (BF-3), not the testosterone binding site.

OMMYDCLD: a New A-train Cloud Product that Co-locates OMI and MODIS Cloud and Radiance Parameters onto the OMI Footprint

NASA Technical Reports Server (NTRS)

Fisher, Brad; Joiner, Joanna; Vasilkov, Alexander; Veefkind, Pepijn; Platnick, Steven; Wind, Galina

2014-01-01

Clouds cover approximately 60% of the earth's surface. When obscuring the satellite's field of view (FOV), clouds complicate the retrieval of ozone, trace gases and aerosols from data collected by earth observing satellites. Cloud properties associated with optical thickness, cloud pressure, water phase, drop size distribution (DSD), cloud fraction, vertical and areal extent can also change significantly over short spatio-temporal scales. The radiative transfer models used to retrieve column estimates of atmospheric constituents typically do not account for all these properties and their variations. The OMI science team is preparing to release a new data product, OMMYDCLD, which combines the cloud information from sensors on board two earth observing satellites in the NASA A-Train: Aura/OMI and Aqua/MODIS. OMMYDCLD co-locates high resolution cloud and radiance information from MODIS onto the much larger OMI pixel and combines it with parameters derived from the two other OMI cloud products: OMCLDRR and OMCLDO2. The product includes histograms for MODIS scientific data sets (SDS) provided at 1 km resolution. The statistics of key data fields - such as effective particle radius, cloud optical thickness and cloud water path - are further separated into liquid and ice categories using the optical and IR phase information. OMMYDCLD offers users of OMI data cloud information that will be useful for carrying out OMI calibration work, multi-year studies of cloud vertical structure and in the identification and classification of multi-layer clouds.

Physical Interpretation of Mixing Diagrams

NASA Astrophysics Data System (ADS)

Khain, Alexander; Pinsky, Mark; Magaritz-Ronen, L.

2018-01-01

Type of mixing at cloud edges is often determined by means of mixing diagrams showing the dependence of normalized cube of the mean volume radius on the dilution level. The mixing diagrams correspond to the final equilibrium state of mixing between two air volumes. While interpreting in situ measurements, scattering diagrams are plotted in which normalized droplet concentration is used instead of dilution level. Utilization of such scattering diagrams for interpretation of in situ observations faces significant difficulties and often leads to misinterpretation of the mixing process and to uncertain conclusions concerning the mixing type. In this study we analyze the scattering diagrams obtained by means of a Lagrangian-Eulerian model of a stratocumulus cloud. The model consists of 2,000 interacting Largangian parcels which mix with their neighbors during their motion in the atmospheric boundary layer. In the diagram, each parcel is denoted by a point. Changes of microphysical parameters of the parcel are represented by movements of the point in the scattering diagram. The method of plotting the scattering diagrams using the model is in many aspects similar to that used in in situ measurements. It is shown that a scattering diagram shows snapshots of a transient mixing process. The location of points in the scattering diagrams reflects largely the history and the origin of air parcels. Location of points on scattering diagram characterizes intensity of entrainment, and different parameters of droplet size distributions (DSDs) like concentration, mean volume (or effective) radius, and DSD width.

Development of Health-Related Quality of Life Instruments for Young Children With Disorders of Sex Development (DSD) and Their Parents.

PubMed

Alpern, Adrianne N; Gardner, Melissa; Kogan, Barry; Sandberg, David E; Quittner, Alexandra L

2017-06-01

Research in disorders of sex development (DSD) is hindered by a lack of standardized measures sensitive to the experiences of affected children and families. We developed and evaluated parent proxy (children 2-6 years) and parent self-report (children ≤6 years) health-related quality of life (HRQoL) instruments for DSD. Items were derived from focus groups and open-ended interviews. Clarity and comprehensiveness were assessed with cognitive interviews. Psychometric properties were examined in a field survey of 94 families. Measures demonstrated adequate to good psychometrics, including internal consistency, test-retest reliability, convergent validity, and ability to detect known-group differences. Parents reported greatest stress on Early Experiences , Surgery , and Future Concerns scales. These instruments identify patients' and families' needs, monitor health and quality of life status, and can evaluate clinical interventions. Findings highlight the need for improved psychosocial support during the diagnostic period, better parent-provider communication, and shared decision-making. HRQoL measures are needed for older youth. © The Author 2016. Published by Oxford University Press on behalf of the Society of Pediatric Psychology. All rights reserved. For permissions, please e-mail: journals.permissions@oup.com

Mature vs. Active Deep-Seated Landslides: A Comparison Through Two Case Histories in the Alps

NASA Astrophysics Data System (ADS)

Delle Piane, Luca; Perello, Paolo; Baietto, Alessandro; Giorza, Alessandra; Musso, Alessia; Gabriele, Piercarlo; Baster, Ira

2016-06-01

Two case histories are presented, concerning the still poorly known alpine deep-seated gravitational slope deformations (DSD) located nearby Lanzada (central Italian Alps), and Sarre (north-western Italian Alps). The Lanzada DSD is a constantly monitored, juvenile, and active phenomenon, partly affecting an existing hydropower plant. Its well-developed landforms allow a precise field characterization of the instability-affected area. The Sarre DSD is a mature, strongly remodeled phenomenon, where the only hazard factor is represented by secondary instability processes at the base of the slope. In this case, the remodeling imposed the adoption of complementary analytical techniques to support the field work. The two presented studies had to be adapted to external factors, namely (a) available information, (b) geological and geomorphological setting, and (c) final scope of the work. The Lanzada case essentially relied upon accurate field work; the Sarre case was mostly based on digital image and DTM processing. In both cases a sound field structural analysis formed the necessary background to understand the mechanisms leading to instability. A back-analysis of the differences between the study methods adopted in the two cases is finally presented, leading to suggestions for further investigations and design.

Caregivers of children with a disorder of sex development: associations between parenting capacities and psychological distress.

PubMed

Wolfe-Christensen, Cortney; Fedele, David A; Kirk, Katherine; Mullins, Larry L; Lakshmanan, Yegappan; Wisniewski, Amy B

2014-06-01

Caregivers of children with a disorder of sex development (DSD) are at increased risk for maladaptive parenting capacities, such as high levels of parental overprotection and perceived vulnerability of their child, in addition to parenting stress. The current study aims to examine whether there are relationships between these parenting capacities and psychological distress, including depressive and anxious symptoms. Participants included 134 caregivers of 90 children with a DSD. Caregivers completed measures of parental overprotection, perceived vulnerability, parenting stress, anxiety, and depression. Hierarchical regression analyses revealed that higher levels of parenting stress were related to more anxious and depressive symptoms in caregivers. Higher levels of perceived vulnerability were related to more anxious symptoms. Levels of parental overprotection were unrelated to anxious or depressive symptoms. There is a relationship between parenting capacities and mental health outcomes in caregivers of children with DSD, although the direction of this relationship is not clear. Given the strong relationships between parenting stress and anxious and depressive symptoms, targeting parenting stress and/or psychological distress in these caregivers could result in better functioning overall. Copyright © 2013 Journal of Pediatric Urology Company. Published by Elsevier Ltd. All rights reserved.

Managing Communication among Geographically Distributed Teams: A Brazilian Case

NASA Astrophysics Data System (ADS)

Almeida, Ana Carina M.; de Farias Junior, Ivaldir H.; de S. Carneiro, Pedro Jorge

The growing demand for qualified professionals is making software companies opt for distributed software development (DSD). At the project conception, communication and synchronization of information are critical factors for success. However problems such as time-zone difference between teams, culture, language and different development processes among sites could difficult the communication among teams. In this way, the main goal of this paper is to describe the solution adopted by a Brazilian team to improve communication in a multisite project environment. The purposed solution was based on the best practices described in the literature, and the communication plan was created based on the infrastructure needed by the project. The outcome of this work is to minimize the impact of communication issues in multisite projects, increasing productivity, good understanding and avoiding rework on code and document writing.

Impacts of the Manaus pollution plume on the microphysical properties of Amazonian warm-phase clouds in the wet season

DOE Office of Scientific and Technical Information (OSTI.GOV)

Cecchini, Micael A.; Machado, Luiz A. T.; Comstock, Jennifer M.

The remote atmosphere over the Amazon can be similar to oceanic regions in terms of aerosol conditions and cloud type formations. This is especially true during the wet season. The main aerosol-related disturbances over the Amazon have both natural sources, such as dust transport from Africa, and anthropogenic sources, such as biomass burning or urban pollution. The present work considers the impacts of the latter on the microphysical properties of warm-phase clouds by analyzing observations of the interactions between the Manaus pollution plume and its surroundings, as part of the GoAmazon2014/5 Experiment. The analyzed period corresponds to the wet seasonmore » (specifically from February to March 2014 and corresponding to the first Intensive Operating Period (IOP1) of GoAmazon2014/5). The droplet size distributions reported are in the range 1 µm ≤ D ≤ 50 µm in order to capture the processes leading up to the precipitation formation. The wet season largely presents a clean background atmosphere characterized by frequent rain showers. As such, the contrast between background clouds and those affected by the Manaus pollution can be observed and detailed. The focus is on the characteristics of the initial microphysical properties in cumulus clouds predominantly at their early stages. The pollution-affected clouds are found to have smaller effective diameters and higher droplet number concentrations. The differences range from 10 to 40 % for the effective diameter and are as high as 1000% for droplet concentration for the same vertical levels. The growth rates of droplets with altitude are slower for pollution-affected clouds (2.90 compared to 5.59 µm km –1), as explained by the absence of bigger droplets at the onset of cloud development. Clouds under background conditions have higher concentrations of larger droplets (> 20 µm) near the cloud base, which would contribute significantly to the growth rates through the collision–coalescence process. The overall shape of the droplet size distribution (DSD) does not appear to be predominantly determined by updraught strength, especially beyond the 20 µm range. The aerosol conditions play a major role in that case. However, the updraughts modulate the DSD concentrations and are responsible for the vertical transport of water in the cloud. The larger droplets found in background clouds are associated with weak water vapour competition and a bimodal distribution of droplet sizes in the lower levels of the cloud, which enables an earlier initiation of the collision–coalescence process. This paper shows that the pollution produced by Manaus significantly affects warm-phase microphysical properties of the surrounding clouds by changing the initial DSD formation. The corresponding effects on ice-phase processes and precipitation formation will be the focus of future endeavors.« less

Impacts of the Manaus pollution plume on the microphysical properties of Amazonian warm-phase clouds in the wet season

DOE PAGES

Cecchini, Micael A.; Machado, Luiz A. T.; Comstock, Jennifer M.; ...

2016-06-09

The remote atmosphere over the Amazon can be similar to oceanic regions in terms of aerosol conditions and cloud type formations. This is especially true during the wet season. The main aerosol-related disturbances over the Amazon have both natural sources, such as dust transport from Africa, and anthropogenic sources, such as biomass burning or urban pollution. The present work considers the impacts of the latter on the microphysical properties of warm-phase clouds by analyzing observations of the interactions between the Manaus pollution plume and its surroundings, as part of the GoAmazon2014/5 Experiment. The analyzed period corresponds to the wet seasonmore » (specifically from February to March 2014 and corresponding to the first Intensive Operating Period (IOP1) of GoAmazon2014/5). The droplet size distributions reported are in the range 1 µm ≤ D ≤ 50 µm in order to capture the processes leading up to the precipitation formation. The wet season largely presents a clean background atmosphere characterized by frequent rain showers. As such, the contrast between background clouds and those affected by the Manaus pollution can be observed and detailed. The focus is on the characteristics of the initial microphysical properties in cumulus clouds predominantly at their early stages. The pollution-affected clouds are found to have smaller effective diameters and higher droplet number concentrations. The differences range from 10 to 40 % for the effective diameter and are as high as 1000% for droplet concentration for the same vertical levels. The growth rates of droplets with altitude are slower for pollution-affected clouds (2.90 compared to 5.59 µm km –1), as explained by the absence of bigger droplets at the onset of cloud development. Clouds under background conditions have higher concentrations of larger droplets (> 20 µm) near the cloud base, which would contribute significantly to the growth rates through the collision–coalescence process. The overall shape of the droplet size distribution (DSD) does not appear to be predominantly determined by updraught strength, especially beyond the 20 µm range. The aerosol conditions play a major role in that case. However, the updraughts modulate the DSD concentrations and are responsible for the vertical transport of water in the cloud. The larger droplets found in background clouds are associated with weak water vapour competition and a bimodal distribution of droplet sizes in the lower levels of the cloud, which enables an earlier initiation of the collision–coalescence process. This paper shows that the pollution produced by Manaus significantly affects warm-phase microphysical properties of the surrounding clouds by changing the initial DSD formation. The corresponding effects on ice-phase processes and precipitation formation will be the focus of future endeavors.« less

Psychological Aspects of the Treatment of Patients with Disorders of Sex Development

PubMed Central

Sandberg, David E.; Gardner, Melissa; Cohen-Kettenis, Peggy T.

2013-01-01

Research on the psychological development of persons with Disorders of Sex Development (DSD) has focused on understanding the influence of atypical sex hormone exposure during steroid-sensitive periods of prenatal brain development on the process of psychosexual differentiation (i.e., gender identity, gender role, and sexual orientation). In contrast, analysis of clinical management strategies has focused on gender assignment and the desirability and timing of genital surgery. This review focuses on the psychological issues that confront clinicians managing the care of persons born with DSD and their families. Particular attention is paid to processes and factors that potentially mediate or moderate psychosocial and psychosexual outcomes within and across developmental stages. PMID:23044882

A Summary of Large Raindrop Observations from GPM GV Field Campaigns

NASA Technical Reports Server (NTRS)

Gatlin, Patrick N.; Petersen, Walter; Tokay, Ali; Thurai, Merhala; Bringi, V. N.; Carey, Lawrence; Wingo, Matthew

2013-01-01

NASA's Global Precipitation Measurement Mission (GPM) has conducted as series of Ground Validation (GV) studies to assist algorithm development for the GPM core satellite. Characterizing the drop size distribution (DSD) for different types of precipitation systems is critical in order to accurately estimate precipitation across the majority of the planet. Thus far, GV efforts have sampled DSDs in a variety of precipitation systems from Finland to Oklahoma. This dataset consists of over 33 million raindrops sampled by GPM GV's two-dimensional video disdrometers (2DVD) and includes RSD observations from the LPVEx, MC3E, GCPEx, HyMEx and IFloodS campaigns as well as from GV sites in Huntsville, AL and Wallops Island, VA. This study focuses on the larger end of the raindrop size spectrum, which greatly influences radar reflectivity and has implications for moment estimation. Thus knowledge of the maximum diameter is critical to GPM algorithm development. There are over 24,000 raindrops exceeding 5 mm in diameter contained within this disdrometer dataset. The largest raindrops in the 2DVD dataset (>7-8 mm in diameter) are found within intense convective thunderstorms, and their origins are believed to be hailstones. In stratiform rainfall, large raindrops have also been found to fall from lower and thicker melting layers. The 2DVD dataset will be combined with that collected by dual-polarimetric radar and aircraft particle imaging probes to "follow" the vertical evolution of the DSD tail (i.e., retrace the large drops from the surface to their origins aloft).

Development and application of the dynamic system doctor to nuclear reactor probabilistic risk assessments.

DOE Office of Scientific and Technical Information (OSTI.GOV)

Kunsman, David Marvin; Aldemir, Tunc; Rutt, Benjamin

2008-05-01

This LDRD project has produced a tool that makes probabilistic risk assessments (PRAs) of nuclear reactors - analyses which are very resource intensive - more efficient. PRAs of nuclear reactors are being increasingly relied on by the United States Nuclear Regulatory Commission (U.S.N.R.C.) for licensing decisions for current and advanced reactors. Yet, PRAs are produced much as they were 20 years ago. The work here applied a modern systems analysis technique to the accident progression analysis portion of the PRA; the technique was a system-independent multi-task computer driver routine. Initially, the objective of the work was to fuse the accidentmore » progression event tree (APET) portion of a PRA to the dynamic system doctor (DSD) created by Ohio State University. Instead, during the initial efforts, it was found that the DSD could be linked directly to a detailed accident progression phenomenological simulation code - the type on which APET construction and analysis relies, albeit indirectly - and thereby directly create and analyze the APET. The expanded DSD computational architecture and infrastructure that was created during this effort is called ADAPT (Analysis of Dynamic Accident Progression Trees). ADAPT is a system software infrastructure that supports execution and analysis of multiple dynamic event-tree simulations on distributed environments. A simulator abstraction layer was developed, and a generic driver was implemented for executing simulators on a distributed environment. As a demonstration of the use of the methodological tool, ADAPT was applied to quantify the likelihood of competing accident progression pathways occurring for a particular accident scenario in a particular reactor type using MELCOR, an integrated severe accident analysis code developed at Sandia. (ADAPT was intentionally created with flexibility, however, and is not limited to interacting with only one code. With minor coding changes to input files, ADAPT can be linked to other such codes.) The results of this demonstration indicate that the approach can significantly reduce the resources required for Level 2 PRAs. From the phenomenological viewpoint, ADAPT can also treat the associated epistemic and aleatory uncertainties. This methodology can also be used for analyses of other complex systems. Any complex system can be analyzed using ADAPT if the workings of that system can be displayed as an event tree, there is a computer code that simulates how those events could progress, and that simulator code has switches to turn on and off system events, phenomena, etc. Using and applying ADAPT to particular problems is not human independent. While the human resources for the creation and analysis of the accident progression are significantly decreased, knowledgeable analysts are still necessary for a given project to apply ADAPT successfully. This research and development effort has met its original goals and then exceeded them.« less

Malassezia globosa and restricta: breakthrough understanding of the etiology and treatment of dandruff and seborrheic dermatitis through whole-genome analysis.

PubMed

Dawson, Thomas L

2007-12-01

Dandruff and seborrheic dermatitis (D/SD) share an etiology dependent upon three factors: sebum, microbial metabolism (specifically, Malassezia yeasts), and individual susceptibility. Advances in microbiological and analytical techniques permit a more detailed understanding of these etiologic factors, especially the role of Malassezia. Malassezia are lipid-dependent and demonstrate adaptation allowing them to exploit a narrow niche on sebum-rich skin. Work in our and our collaborators' laboratories has focused on understanding these adaptations by detailed analysis of biochemistry and gene expression. We have shown that Malassezia globosa and M. restricta predominate on dandruff scalp, that oleic acid alone can initiate dandruff-like desquamation, that M. globosa is the most likely initiating organism by virtue of its high lipase activity, and that an M. globosa lipase is expressed on human scalp. Considering the importance of M. globosa in D/SD (and the overall importance of commensal fungi), we have sequenced the M. globosa and M. restricta genomes. Genomic analysis indicates key adaptations to the skin environment, several of which yield important clues to the role Malassezia play in human disease. This work offers the promise of defining new treatments to D/SD that are targeted at changing the level or activities of Malassezia genes.

Gender identity and gender of rearing in 46 XY disorders of sexual development

PubMed Central

Gangaher, Arushi; Chauhan, Vasundhera; Jyotsna, Viveka P.; Mehta, Manju

2016-01-01

Background: Disorders of sexual development (DSD) may pose a challenge to live as a fully-functioning male or female. In this study, we prospectively assessed eleven 46 XY DSD patients who were being treated at our center over the last 8 months for gender dysphoria. Materials and Methods: To determine gender dysphoria, age-appropriate gender identity (GI) questionnaires were used. For patients, 12 years and below, parent report GI questionnaire for children was used and for those above 12 years of age, GI/gender dysphoria questionnaire for adolescents and adults was administered. Results: Of 11 patients with 46 XY DSD, three were diagnosed with 5 alpha reductase deficiency (5aRD), two with partial gonadal dysgenesis, three with partial androgen insensitivity syndrome, one each with ovotesticular, complete gonadal dysgenesis, and complete androgen insensitivity. Gender assigned at birth was female in eight and male in three patients. Among the eight reared as female, gender had been reassigned as male in three patients well before the present study was conducted. None of the eleven patients had gender dysphoria at the time of this study. Conclusion: Early gender of rearing was seen to be a critical indicator of present GI in our patients except in cases of 5aRD. PMID:27366722

Review disorders of sex development: The evolving role of genomics in diagnosis and gene discovery.

PubMed

Croft, Brittany; Ayers, Katie; Sinclair, Andrew; Ohnesorg, Thomas

2016-12-01

Disorders of Sex Development (DSDs) are a major paediatric concern and are estimated to occur in around 1.7% of all live births (Fausto-Sterling, Sexing the Body: Gender Politics and the Construction of Sexuality, Basic Books, New York, 2000). They are often caused by the breakdown in the complex genetic mechanisms that underlie gonadal development and differentiation. Having a genetic diagnosis can be important for patients with a DSD: it can increase acceptance of a disorder often surrounded by stigma, alter clinical management and it can assist in reproductive planning. While Massively Parallel Sequencing (MPS) is advancing the genetic diagnosis of rare Mendelian disorders, it is not yet clear which MPS assay is best suited for the clinical diagnosis of DSD patients and to what extent other established methods are still relevant. To complicate matters, DSDs represent a wide spectrum of disorders caused by an array of different genetic changes, many of which are yet unknown. Here we discuss the different genetic lesions that are known to contribute to different DSDs, and review the utility of a range of MPS approaches for diagnosing DSD patients. Birth Defects Research (Part C) 108:337-350, 2016. © 2016 Wiley Periodicals, Inc. © 2016 Wiley Periodicals, Inc.

Copy number variation of two separate regulatory regions upstream of SOX9 causes isolated 46,XY or 46,XX disorder of sex development.

PubMed

Kim, Gwang-Jin; Sock, Elisabeth; Buchberger, Astrid; Just, Walter; Denzer, Friederike; Hoepffner, Wolfgang; German, James; Cole, Trevor; Mann, Jillian; Seguin, John H; Zipf, William; Costigan, Colm; Schmiady, Hardi; Rostásy, Moritz; Kramer, Mildred; Kaltenbach, Simon; Rösler, Bernd; Georg, Ina; Troppmann, Elke; Teichmann, Anne-Christin; Salfelder, Anika; Widholz, Sebastian A; Wieacker, Peter; Hiort, Olaf; Camerino, Giovanna; Radi, Orietta; Wegner, Michael; Arnold, Hans-Henning; Scherer, Gerd

2015-04-01

SOX9 mutations cause the skeletal malformation syndrome campomelic dysplasia in combination with XY sex reversal. Studies in mice indicate that SOX9 acts as a testis-inducing transcription factor downstream of SRY, triggering Sertoli cell and testis differentiation. An SRY-dependent testis-specific enhancer for Sox9 has been identified only in mice. A previous study has implicated copy number variations (CNVs) of a 78 kb region 517-595 kb upstream of SOX9 in the aetiology of both 46,XY and 46,XX disorders of sex development (DSD). We wanted to better define this region for both disorders. By CNV analysis, we identified SOX9 upstream duplications in three cases of SRY-negative 46,XX DSD, which together with previously reported duplications define a 68 kb region, 516-584 kb upstream of SOX9, designated XXSR (XX sex reversal region). More importantly, we identified heterozygous deletions in four families with SRY-positive 46,XY DSD without skeletal phenotype, which define a 32.5 kb interval 607.1-639.6 kb upstream of SOX9, designated XY sex reversal region (XYSR). To localise the suspected testis-specific enhancer, XYSR subfragments were tested in cell transfection and transgenic experiments. While transgenic experiments remained inconclusive, a 1.9 kb SRY-responsive subfragment drove expression specifically in Sertoli-like cells. Our results indicate that isolated 46,XY and 46,XX DSD can be assigned to two separate regulatory regions, XYSR and XXSR, far upstream of SOX9. The 1.9 kb SRY-responsive subfragment from the XYSR might constitute the core of the Sertoli-cell enhancer of human SOX9, representing the so far missing link in the genetic cascade of male sex determination. Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://group.bmj.com/group/rights-licensing/permissions.

Recalled and current gender role behavior, gender identity and sexual orientation in adults with Disorders/Differences of Sex Development.

PubMed

Callens, Nina; Van Kuyk, Maaike; van Kuppenveld, Jet H; Drop, Stenvert L S; Cohen-Kettenis, Peggy T; Dessens, Arianne B

2016-11-01

The magnitude of sex differences in human brain and behavior and the respective contributions of biology versus socialization remain a topic of ongoing study in science. The preponderance of evidence attests to the notion that sexual differentiation processes are at least partially hormonally mediated, with high levels of prenatal androgens facilitating male-typed and inhibiting female-typed behaviors. In individuals with Disorders/Differences of Sex Development (DSD), hormonal profiles or sensitivities have been altered due to genetic influences, presumably affecting gender(ed) activity interests as well as gender identity development in a minority of the affected population. While continued postnatal androgen exposure in a number of DSD syndromes has been associated with higher rates of gender dysphoria and gender change, the role of a number of mediating and moderating factors, such as initial gender assignment, syndrome severity and clinical management remains largely unclear. Limited investigations of the associations between these identified influences and gendered development outcomes impede optimization of clinical care. Participants with DSD (n=123), recruited in the context of a Dutch multi-center follow-up audit, were divided in subgroups reflecting prenatal androgen exposure, genital appearance at birth and gender of rearing. Recalled childhood play and playmate preferences, gender identity and sexual orientation were measured with questionnaires and semi-structured interviews. Data were compared to those of control male (n=46) and female participants (n=79). The findings support that (a) prenatal androgen exposure has large effects on (gendered) activity interests, but to a much lesser extent on sexual orientation and that (b) initial gender of rearing remains a better predictor of gender identity contentedness than prenatal androgen exposure, beyond syndrome severity and medical treatment influences. Nonetheless, 3.3% of individuals with DSD in our sample self-reported gender dysphoria from an early age and changed gender, which further underlines the need for thorough long- term follow-up and specific clinical support. Copyright © 2016 Elsevier Inc. All rights reserved.

Level set methods for detonation shock dynamics using high-order finite elements

DOE Office of Scientific and Technical Information (OSTI.GOV)

Dobrev, V. A.; Grogan, F. C.; Kolev, T. V.

Level set methods are a popular approach to modeling evolving interfaces. We present a level set ad- vection solver in two and three dimensions using the discontinuous Galerkin method with high-order nite elements. During evolution, the level set function is reinitialized to a signed distance function to maintain ac- curacy. Our approach leads to stable front propagation and convergence on high-order, curved, unstructured meshes. The ability of the solver to implicitly track moving fronts lends itself to a number of applications; in particular, we highlight applications to high-explosive (HE) burn and detonation shock dynamics (DSD). We provide results for two-more » and three-dimensional benchmark problems as well as applications to DSD.« less

Digital Smile Design concept delineates the final potential result of crown lengthening and porcelain veneers to correct a gummy smile.

PubMed

Trushkowsky, Richard; Arias, David Montalvo; David, Steven

Prior to initiating any treatment, it is necessary to visualize the desired outcomes. It then becomes possible to formulate the steps required to achieve this result. Digital Smile Design (DSD) utilizes patient input and information gathered through diagnostic procedures to create an esthetic treatment scheme. In the case presented here, the NYUCD Esthetic Evaluation Form, intraoral and extraoral photographs, mounted diagnostic casts, physical examination, and radiographs were the diagnostic modalities. The gathered information served as a starting point for a wax-up and intraoral mock-up. This case report demonstrates how the DSD served as a template for crown lengthening procedures and design of the final porcelain veneer restorations.

Psychological aspects of the treatment of patients with disorders of sex development.

PubMed

Sandberg, David E; Gardner, Melissa; Cohen-Kettenis, Peggy T

2012-10-01

Research on the psychological development of persons with Disorders of Sex Development (DSD) has focused on understanding the influence of atypical sex hormone exposure during steroid-sensitive periods of prenatal brain development on the process of psychosexual differentiation (i.e., gender identity, gender role, and sexual orientation). In contrast, analysis of clinical management strategies has focused on gender assignment and the desirability and timing of genital surgery. This review focuses on the psychological issues that confront clinicians managing the care of persons born with DSD and their families. Particular attention is paid to processes and factors that potentially mediate or moderate psychosocial and psychosexual outcomes within and across developmental stages. Thieme Medical Publishers 333 Seventh Avenue, New York, NY 10001, USA.

Impact of Scattering Model on Disdrometer Derived Attenuation Scaling

NASA Technical Reports Server (NTRS)

Zemba, Michael; Luini, Lorenzo; Nessel, James; Riva, Carlo (Compiler)

2016-01-01

NASA Glenn Research Center (GRC), the Air Force Research Laboratory (AFRL), and the Politecnico di Milano (POLIMI) are currently entering the third year of a joint propagation study in Milan, Italy utilizing the 20 and 40 GHz beacons of the Alphasat TDP5 Aldo Paraboni scientific payload. The Ka- and Q-band beacon receivers were installed at the POLIMI campus in June of 2014 and provide direct measurements of signal attenuation at each frequency. Collocated weather instrumentation provides concurrent measurement of atmospheric conditions at the receiver; included among these weather instruments is a Thies Clima Laser Precipitation Monitor (optical disdrometer) which records droplet size distributions (DSD) and droplet velocity distributions (DVD) during precipitation events. This information can be used to derive the specific attenuation at frequencies of interest and thereby scale measured attenuation data from one frequency to another. Given the ability to both predict the 40 GHz attenuation from the disdrometer and the 20 GHz timeseries as well as to directly measure the 40 GHz attenuation with the beacon receiver, the Milan terminal is uniquely able to assess these scaling techniques and refine the methods used to infer attenuation from disdrometer data.In order to derive specific attenuation from the DSD, the forward scattering coefficient must be computed. In previous work, this has been done using the Mie scattering model, however, this assumes a spherical droplet shape. The primary goal of this analysis is to assess the impact of the scattering model and droplet shape on disdrometer derived attenuation predictions by comparing the use of the Mie scattering model to the use of the T-matrix method, which does not assume a spherical droplet. In particular, this paper will investigate the impact of these two scattering approaches on the error of the resulting predictions as well as on the relationship between prediction error and rain rate.

Impact of Scattering Model on Disdrometer Derived Attenuation Scaling

NASA Technical Reports Server (NTRS)

Zemba, Michael; Luini, Lorenzo; Nessel, James; Riva, Carlo

2016-01-01

NASA Glenn Research Center (GRC), the Air Force Research Laboratory (AFRL), and the Politecnico di Milano (POLIMI) are currently entering the third year of a joint propagation study in Milan, Italy utilizing the 20 and 40 GHz beacons of the Alphasat TDP#5 Aldo Paraboni scientific payload. The Ka- and Q-band beacon receivers were installed at the POLIMI campus in June of 2014 and provide direct measurements of signal attenuation at each frequency. Collocated weather instrumentation provides concurrent measurement of atmospheric conditions at the receiver; included among these weather instruments is a Thies Clima Laser Precipitation Monitor (optical disdrometer) which records droplet size distributions (DSD) and droplet velocity distributions (DVD) during precipitation events. This information can be used to derive the specific attenuation at frequencies of interest and thereby scale measured attenuation data from one frequency to another. Given the ability to both predict the 40 gigahertz attenuation from the disdrometer and the 20 gigahertz time-series as well as to directly measure the 40 gigahertz attenuation with the beacon receiver, the Milan terminal is uniquely able to assess these scaling techniques and refine the methods used to infer attenuation from disdrometer data. In order to derive specific attenuation from the DSD, the forward scattering coefficient must be computed. In previous work, this has been done using the Mie scattering model, however, this assumes a spherical droplet shape. The primary goal of this analysis is to assess the impact of the scattering model and droplet shape on disdrometer-derived attenuation predictions by comparing the use of the Mie scattering model to the use of the T-matrix method, which does not assume a spherical droplet. In particular, this paper will investigate the impact of these two scattering approaches on the error of the resulting predictions as well as on the relationship between prediction error and rain rate.

Toward a Global Map of Raindrop Size Distributions. Part 1; Rain-Type Classification and Its Implications for Validating Global Rainfall Products

NASA Technical Reports Server (NTRS)

L'Ecuyer, Tristan S.; Kummerow, Christian; Berg,Wesley

2004-01-01

Variability in the global distribution of precipitation is recognized as a key element in assessing the impact of climate change for life on earth. The response of precipitation to climate forcings is, however, poorly understood because of discrepancies in the magnitude and sign of climatic trends in satellite-based rainfall estimates. Quantifying and ultimately removing these biases is critical for studying the response of the hydrologic cycle to climate change. In addition, estimates of random errors owing to variability in algorithm assumptions on local spatial and temporal scales are critical for establishing how strongly their products should be weighted in data assimilation or model validation applications and for assigning a level of confidence to climate trends diagnosed from the data. This paper explores the potential for refining assumed drop size distributions (DSDs) in global radar rainfall algorithms by establishing a link between satellite observables and information gleaned from regional validation experiments where polarimetric radar, Doppler radar, and disdrometer measurements can be used to infer raindrop size distributions. By virtue of the limited information available in the satellite retrieval framework, the current method deviates from approaches adopted in the ground-based radar community that attempt to relate microphysical processes and resultant DSDs to local meteorological conditions. Instead, the technique exploits the fact that different microphysical pathways for rainfall production are likely to lead to differences in both the DSD of the resulting raindrops and the three-dimensional structure of associated radar reflectivity profiles. Objective rain-type classification based on the complete three-dimensional structure of observed reflectivity profiles is found to partially mitigate random and systematic errors in DSDs implied by differential reflectivity measurements. In particular, it is shown that vertical and horizontal reflectivity structure obtained from spaceborne radar can be used to reproduce significant differences in Z(sub dr) between the easterly and westerly climate regimes observed in the Tropical Rainfall Measuring Mission Large-scale Biosphere-Atmosphere (TRMM-LBA) field experiment as well as the even larger differences between Amazonian rainfall and that observed in eastern Colorado. As such, the technique offers a potential methodology for placing locally observed DSD information into a global framework.

46,XY disorder of sex development (DSD) due to 17β-hydroxysteroid dehydrogenase type 3 deficiency.

PubMed

Mendonca, Berenice B; Gomes, Nathalia Lisboa; Costa, Elaine M F; Inacio, Marlene; Martin, Regina M; Nishi, Mirian Y; Carvalho, Filomena Marino; Tibor, Francisco Denes; Domenice, Sorahia

2017-01-01

17β-hydroxysteroid dehydrogenase 3 deficiency consists of a defect in the last phase of steroidogenesis, in which androstenedione is converted into testosterone and estrone into estradiol. External genitalia range from female-like to atypical genitalia and most affected males are raised as females. Virilization in subjects with 17β-HSD3 deficiency occurs at the time of puberty and several of them change to male social sex. In male social sex patients, testes can be safely maintained, as long as they are positioned inside the scrotum The phenotype of 46,XY DSD due to 17β-HSD3 deficiency is extremely variable and clinically indistinguishable from other causes of 46,XY DSD such as partial androgen insensitivity syndrome and 5α-reductase 2 deficiency. Laboratory diagnosis is based on a low testosterone/androstenedione ratio due to high serum levels of androstenedione and low levels of testosterone. The disorder is caused by a homozygous or compound heterozygous mutations in the HSD17B3 gene that encodes the 17β-HSD3 isoenzyme leading to an impairment of the conversion of 17-keto into 17-hydroxysteroids. Molecular genetic testing confirms the diagnosis and provides the orientation for genetic counseling. Our proposal in this article is to review the previously reported cases of 17β-HSD3 deficiency adding our own cases. Copyright © 2016. Published by Elsevier Ltd.

Comparison of Ground- and Space-based Radar Observations with Disdrometer Measurements During the PECAN Field Campaign

NASA Astrophysics Data System (ADS)

Torres, A. D.; Rasmussen, K. L.; Bodine, D. J.; Dougherty, E.

2015-12-01

Plains Elevated Convection At Night (PECAN) was a large field campaign that studied nocturnal mesoscale convective systems (MCSs), convective initiation, bores, and low-level jets across the central plains in the United States. MCSs are responsible for over half of the warm-season precipitation across the central U.S. plains. The rainfall from deep convection of these systems over land have been observed to be underestimated by satellite radar rainfall-retrieval algorithms by as much as 40 percent. These algorithms have a strong dependence on the generally unmeasured rain drop-size distribution (DSD). During the campaign, our group measured rainfall DSDs, precipitation fall velocities, and total precipitation in the convective and stratiform regions of MCSs using Ott Parsivel optical laser disdrometers. The disdrometers were co-located with mobile pod units that measured temperature, wind, and relative humidity for quality control purposes. Data from the operational NEXRAD radar in LaCrosse, Wisconsin and space-based radar measurements from a Global Precipitation Measurement satellite overpass on July 13, 2015 were used for the analysis. The focus of this study is to compare DSD measurements from the disdrometers to radars in an effort to reduce errors in existing rainfall-retrieval algorithms. The error analysis consists of substituting measured DSDs into existing quantitative precipitation estimation techniques (e.g. Z-R relationships and dual-polarization rain estimates) and comparing these estimates to ground measurements of total precipitation. The results from this study will improve climatological estimates of total precipitation in continental convection that are used in hydrological studies, climate models, and other applications.

Hydrometeor Size Distribution Measurements by Imaging the Attenuation of a Laser Spot

NASA Technical Reports Server (NTRS)

Lane, John

2013-01-01

The optical extinction of a laser due to scattering of particles is a well-known phenomenon. In a laboratory environment, this physical principle is known as the Beer-Lambert law, and is often used to measure the concentration of scattering particles in a fluid or gas. This method has been experimentally shown to be a usable means to measure the dust density from a rocket plume interaction with the lunar surface. Using the same principles and experimental arrangement, this technique can be applied to hydrometeor size distributions, and for launch-pad operations, specifically as a passive hail detection and measurement system. Calibration of a hail monitoring system is a difficult process. In the past, it has required comparison to another means of measuring hydrometeor size and density. Using a technique recently developed for estimating the density of surface dust dispersed during a rocket landing, measuring the extinction of a laser passing through hail (or dust in the rocket case) yields an estimate of the second moment of the particle cloud, and hydrometeor size distribution in the terrestrial meteorological case. With the exception of disdrometers, instruments that measure rain and hail fall make indirect measurements of the drop-size distribution. Instruments that scatter microwaves off of hydrometeors, such as the WSR-88D (Weather Surveillance Radar 88 Doppler), vertical wind profilers, and microwave disdrometers, measure the sixth moment of the drop size distribution (DSD). By projecting a laser onto a target, changes in brightness of the laser spot against the target background during rain and hail yield a measurement of the DSD's second moment by way of the Beer-Lambert law. In order to detect the laser attenuation within the 8-bit resolution of most camera image arrays, a minimum path length is required. Depending on the intensity of the hail fall rate for moderate to heavy rainfall, a laser path length of 100 m is sufficient to measure variations in optical extinction using a digital camera. For hail fall only, the laser path may be shorter because of greater scattering due to the properties of hailstones versus raindrops. A photodetector may replace the camera in automated installations. Laser-based rain and hail measurement systems are available, but they are based on measuring the interruption of a thin laser beam, thus counting individual hydrometeors. These systems are true disdrometers since they also measure size and velocity. The method reported here is a simple method, requiring far less processing, but it is not a disdrometer.

Disorders of sex development and gender identity outcome in adolescence and adulthood: understanding gender identity development and its clinical implications.

PubMed

de Vries, Annelou L C; Doreleijers, Theo A H; Cohen-Kettenis, Peggy T

2007-06-01

This article reviews studies on gender identity outcome in individuals with disorders of sex development (DSD). It appears that a high percentage of affected individuals suffer from gender dysphoria. However, these figures differ substantially among the various DSD and they never reach 100%. From the studies it also becomes clear that a distinction should be made between gender role behavior and gender identity. Put in a broader theoretical framework, there is now more evidence that biological factors influence the development of gender role behavior than gender identity. Developmental psychology studies add evidence that social and psychological factors play a role as well in gender development. Clinicians should be aware of, but not overestimate the influences of neurobiological factors in gender development.

Human NR5A1/SF-1 Mutations Show Decreased Activity on BDNF (Brain-Derived Neurotrophic Factor), an Important Regulator of Energy Balance: Testing Impact of Novel SF-1 Mutations Beyond Steroidogenesis

PubMed Central

Malikova, Jana; Camats, Núria; Fernández-Cancio, Mónica; Heath, Karen; González, Isabel; Caimarí, María; del Campo, Miguel; Albisu, Marian; Kolouskova, Stanislava; Audí, Laura; Flück, Christa E.

2014-01-01

Context Human NR5A1/SF-1 mutations cause 46,XY disorder of sex development (DSD) with broad phenotypic variability, and rarely cause adrenal insufficiency although SF-1 is an important transcription factor for many genes involved in steroidogenesis. In addition, the Sf-1 knockout mouse develops obesity with age. Obesity might be mediated through Sf-1 regulating activity of brain-derived neurotrophic factor (BDNF), an important regulator of energy balance in the ventromedial hypothalamus. Objective To characterize novel SF-1 gene variants in 4 families, clinical, genetic and functional studies were performed with respect to steroidogenesis and energy balance. Patients 5 patients with 46,XY DSD were found to harbor NR5A1/SF-1 mutations including 2 novel variations. One patient harboring a novel mutation also suffered from adrenal insufficiency. Methods SF-1 mutations were studied in cell systems (HEK293, JEG3) for impact on transcription of genes involved in steroidogenesis (CYP11A1, CYP17A1, HSD3B2) and in energy balance (BDNF). BDNF regulation by SF-1 was studied by promoter assays (JEG3). Results Two novel NR5A1/SF-1 mutations (Glu7Stop, His408Profs*159) were confirmed. Glu7Stop is the 4th reported SF-1 mutation causing DSD and adrenal insufficiency. In vitro studies revealed that transcription of the BDNF gene is regulated by SF-1, and that mutant SF-1 decreased BDNF promoter activation (similar to steroid enzyme promoters). However, clinical data from 16 subjects carrying SF-1 mutations showed normal birth weight and BMI. Conclusions Glu7Stop and His408Profs*159 are novel SF-1 mutations identified in patients with 46,XY DSD and adrenal insufficiency (Glu7Stop). In vitro, SF-1 mutations affect not only steroidogenesis but also transcription of BDNF which is involved in energy balance. However, in contrast to mice, consequences on weight were not found in humans with SF-1 mutations. PMID:25122490

Human NR5A1/SF-1 mutations show decreased activity on BDNF (brain-derived neurotrophic factor), an important regulator of energy balance: testing impact of novel SF-1 mutations beyond steroidogenesis.

PubMed

Malikova, Jana; Camats, Núria; Fernández-Cancio, Mónica; Heath, Karen; González, Isabel; Caimarí, María; del Campo, Miguel; Albisu, Marian; Kolouskova, Stanislava; Audí, Laura; Flück, Christa E

2014-01-01

Human NR5A1/SF-1 mutations cause 46,XY disorder of sex development (DSD) with broad phenotypic variability, and rarely cause adrenal insufficiency although SF-1 is an important transcription factor for many genes involved in steroidogenesis. In addition, the Sf-1 knockout mouse develops obesity with age. Obesity might be mediated through Sf-1 regulating activity of brain-derived neurotrophic factor (BDNF), an important regulator of energy balance in the ventromedial hypothalamus. To characterize novel SF-1 gene variants in 4 families, clinical, genetic and functional studies were performed with respect to steroidogenesis and energy balance. 5 patients with 46,XY DSD were found to harbor NR5A1/SF-1 mutations including 2 novel variations. One patient harboring a novel mutation also suffered from adrenal insufficiency. SF-1 mutations were studied in cell systems (HEK293, JEG3) for impact on transcription of genes involved in steroidogenesis (CYP11A1, CYP17A1, HSD3B2) and in energy balance (BDNF). BDNF regulation by SF-1 was studied by promoter assays (JEG3). Two novel NR5A1/SF-1 mutations (Glu7Stop, His408Profs*159) were confirmed. Glu7Stop is the 4th reported SF-1 mutation causing DSD and adrenal insufficiency. In vitro studies revealed that transcription of the BDNF gene is regulated by SF-1, and that mutant SF-1 decreased BDNF promoter activation (similar to steroid enzyme promoters). However, clinical data from 16 subjects carrying SF-1 mutations showed normal birth weight and BMI. Glu7Stop and His408Profs*159 are novel SF-1 mutations identified in patients with 46,XY DSD and adrenal insufficiency (Glu7Stop). In vitro, SF-1 mutations affect not only steroidogenesis but also transcription of BDNF which is involved in energy balance. However, in contrast to mice, consequences on weight were not found in humans with SF-1 mutations.

Wide spectrum of NR5A1‐related phenotypes in 46,XY and 46,XX individuals

PubMed Central

Domenice, Sorahia; Machado, Aline Zamboni; Ferreira, Frederico Moraes; Ferraz‐de‐Souza, Bruno; Lerario, Antonio Marcondes; Lin, Lin; Nishi, Mirian Yumie; Gomes, Nathalia Lisboa; da Silva, Thatiana Evelin; Silva, Rosana Barbosa; Correa, Rafaela Vieira; Montenegro, Luciana Ribeiro; Narciso, Amanda; Costa, Elaine Maria Frade; Achermann, John C

2016-01-01

Steroidogenic factor 1 (NR5A1, SF‐1, Ad4BP) is a transcriptional regulator of genes involved in adrenal and gonadal development and function. Mutations in NR5A1 have been among the most frequently identified genetic causes of gonadal development disorders and are associated with a wide phenotypic spectrum. In 46,XY individuals, NR5A1‐related phenotypes may range from disorders of sex development (DSD) to oligo/azoospermia, and in 46,XX individuals, from 46,XX ovotesticular and testicular DSD to primary ovarian insufficiency (POI). The most common 46,XY phenotype is atypical or female external genitalia with clitoromegaly, palpable gonads, and absence of Müllerian derivatives. Notably, an undervirilized external genitalia is frequently seen at birth, while spontaneous virilization may occur later, at puberty. In 46,XX individuals, NR5A1 mutations are a rare genetic cause of POI, manifesting as primary or secondary amenorrhea, infertility, hypoestrogenism, and elevated gonadotropin levels. Mothers and sisters of 46,XY DSD patients carrying heterozygous NR5A1 mutations may develop POI, and therefore require appropriate counseling. Moreover, the recurrent heterozygous p.Arg92Trp NR5A1 mutation is associated with variable degrees of testis development in 46,XX patients. A clear genotype‐phenotype correlation is not seen in patients bearing NR5A1 mutations, suggesting that genetic modifiers, such as pathogenic variants in other testis/ovarian‐determining genes, may contribute to the phenotypic expression. Here, we review the published literature on NR5A1‐related disease, and discuss our findings at a single tertiary center in Brazil, including ten novel NR5A1 mutations identified in 46,XY DSD patients. The ever‐expanding phenotypic range associated with NR5A1 variants in XY and XX individuals confirms its pivotal role in reproductive biology, and should alert clinicians to the possibility of NR5A1 defects in a variety of phenotypes presenting with gonadal dysfunction. Birth Defects Research (Part C) 108:309–320, 2016. © 2016 The Authors Birth Defects Research Part C: Embryo Today: Reviews Published by Wiley Periodicals, Inc. PMID:28033660

Detonation Shock Dynamics Calibration for Non-Ideal He: Anfo

NASA Astrophysics Data System (ADS)

Short, Mark; Salyer, Terry R.; Aslam, Tariq D.; Kiyanda, Charles B.; Morris, John S.; Zimmerly, Tony

2009-12-01

Linear Dn-κ detonation shock dynamics (DSD) fitting forms are obtained for four ammonium nitrate-fuel oil (ANFO) mixtures involving variations in the ammonium nitrate prill properties and ANFO stoichiometries.

Survival of the most transferable at the top of Jacob's ladder: Defining and testing the ωB97M(2) double hybrid density functional

NASA Astrophysics Data System (ADS)

Mardirossian, Narbe; Head-Gordon, Martin

2018-06-01

A meta-generalized gradient approximation, range-separated double hybrid (DH) density functional with VV10 non-local correlation is presented. The final 14-parameter functional form is determined by screening trillions of candidate fits through a combination of best subset selection, forward stepwise selection, and random sample consensus (RANSAC) outlier detection. The MGCDB84 database of 4986 data points is employed in this work, containing a training set of 870 data points, a validation set of 2964 data points, and a test set of 1152 data points. Following an xDH approach, orbitals from the ωB97M-V density functional are used to compute the second-order perturbation theory correction. The resulting functional, ωB97M(2), is benchmarked against a variety of leading double hybrid density functionals, including B2PLYP-D3(BJ), B2GPPLYP-D3(BJ), ωB97X-2(TQZ), XYG3, PTPSS-D3(0), XYGJ-OS, DSD-PBEP86-D3(BJ), and DSD-PBEPBE-D3(BJ). Encouragingly, the overall performance of ωB97M(2) on nearly 5000 data points clearly surpasses that of all of the tested density functionals. As a Rung 5 density functional, ωB97M(2) completes our family of combinatorially optimized functionals, complementing B97M-V on Rung 3, and ωB97X-V and ωB97M-V on Rung 4. The results suggest that ωB97M(2) has the potential to serve as a powerful predictive tool for accurate and efficient electronic structure calculations of main-group chemistry.

46,XY disorder of sex development due to 17-beta hydroxysteroid dehydrogenase type 3 deficiency: a plea for timely genetic testing.

PubMed

Grimbly, Chelsey; Caluseriu, Oana; Metcalfe, Peter; Jetha, Mary M; Rosolowsky, Elizabeth T

2016-01-01

17β-hydroxysteroid dehydrogenase type 3 (17βHSD3) deficiency is a rare cause of disorder of sex development (DSD) due to impaired conversion of androstenedione to testosterone. Traditionally, the diagnosis was determined by βHCG-stimulated ratios of testosterone:androstenedione < 0.8. An otherwise phenotypically female infant presented with bilateral inguinal masses and a 46,XY karyotype. βHCG stimulation (1500 IU IM for 2 days) suggested 17βHSD3 deficiency although androstenedione was only minimally stimulated (4.5 nmol/L to 5.4 nmol/L). Expedient genetic testing for the HSD17B3 gene provided the unequivocal diagnosis. We advocate for urgent genetic testing in rare causes of DSD as indeterminate hormone results can delay diagnosis and prolong intervention.

Measurement of the CP asymmetry in B - → D s - D 0 and B - → D - D 0 decays

NASA Astrophysics Data System (ADS)

Aaij, R.; Adeva, B.; Adinolfi, M.; Ajaltouni, Z.; Akar, S.; Albicocco, P.; Albrecht, J.; Alessio, F.; Alexander, M.; Alfonso Albero, A.; Ali, S.; Alkhazov, G.; Alvarez Cartelle, P.; Alves, A. A.; Amato, S.; Amerio, S.; Amhis, Y.; An, L.; Anderlini, L.; Andreassi, G.; Andreotti, M.; Andrews, J. E.; Appleby, R. B.; Archilli, F.; d'Argent, P.; Arnau Romeu, J.; Artamonov, A.; Artuso, M.; Aslanides, E.; Atzeni, M.; Auriemma, G.; Bachmann, S.; Back, J. J.; Baker, S.; Balagura, V.; Baldini, W.; Baranov, A.; Barlow, R. J.; Barsuk, S.; Barter, W.; Baryshnikov, F.; Batozskaya, V.; Battista, V.; Bay, A.; Beddow, J.; Bedeschi, F.; Bediaga, I.; Beiter, A.; Bel, L. J.; Beliy, N.; Bellee, V.; Belloli, N.; Belous, K.; Belyaev, I.; Ben-Haim, E.; Bencivenni, G.; Benson, S.; Beranek, S.; Berezhnoy, A.; Bernet, R.; Berninghoff, D.; Bertholet, E.; Bertolin, A.; Betancourt, C.; Betti, F.; Bettler, M. O.; van Beuzekom, M.; Bezshyiko, Ia.; Bifani, S.; Billoir, P.; Birnkraut, A.; Bizzeti, A.; Bjørn, M.; Blake, T.; Blanc, F.; Blusk, S.; Bocci, V.; Boente Garcia, O.; Boettcher, T.; Bondar, A.; Bondar, N.; Borghi, S.; Borisyak, M.; Borsato, M.; Bossu, F.; Boubdir, M.; Bowcock, T. J. V.; Bowen, E.; Bozzi, C.; Braun, S.; Brodski, M.; Brodzicka, J.; Brundu, D.; Buchanan, E.; Burr, C.; Bursche, A.; Buytaert, J.; Byczynski, W.; Cadeddu, S.; Cai, H.; Calabrese, R.; Calladine, R.; Calvi, M.; Calvo Gomez, M.; Camboni, A.; Campana, P.; Campora Perez, D. H.; Capriotti, L.; Carbone, A.; Carboni, G.; Cardinale, R.; Cardini, A.; Carniti, P.; Carson, L.; Carvalho Akiba, K.; Casse, G.; Cassina, L.; Cattaneo, M.; Cavallero, G.; Cenci, R.; Chamont, D.; Chapman, M. G.; Charles, M.; Charpentier, Ph.; Chatzikonstantinidis, G.; Chefdeville, M.; Chen, S.; Chitic, S.-G.; Chobanova, V.; Chrzaszcz, M.; Chubykin, A.; Ciambrone, P.; Cid Vidal, X.; Ciezarek, G.; Clarke, P. E. L.; Clemencic, M.; Cliff, H. V.; Closier, J.; Coco, V.; Cogan, J.; Cogneras, E.; Cogoni, V.; Cojocariu, L.; Collins, P.; Colombo, T.; Comerma-Montells, A.; Contu, A.; Coombs, G.; Coquereau, S.; Corti, G.; Corvo, M.; Costa Sobral, C. M.; Couturier, B.; Cowan, G. A.; Craik, D. C.; Crocombe, A.; Cruz Torres, M.; Currie, R.; D'Ambrosio, C.; Da Cunha Marinho, F.; Da Silva, C. L.; Dall'Occo, E.; Dalseno, J.; Danilina, A.; Davis, A.; De Aguiar Francisco, O.; De Bruyn, K.; De Capua, S.; De Cian, M.; De Miranda, J. M.; De Paula, L.; De Serio, M.; De Simone, P.; Dean, C. T.; Decamp, D.; Del Buono, L.; Delaney, B.; Dembinski, H.-P.; Demmer, M.; Dendek, A.; Derkach, D.; Deschamps, O.; Dettori, F.; Dey, B.; Di Canto, A.; Di Nezza, P.; Didenko, S.; Dijkstra, H.; Dordei, F.; Dorigo, M.; Dosil Suárez, A.; Douglas, L.; Dovbnya, A.; Dreimanis, K.; Dufour, L.; Dujany, G.; Durante, P.; Durham, J. M.; Dutta, D.; Dzhelyadin, R.; Dziewiecki, M.; Dziurda, A.; Dzyuba, A.; Easo, S.; Egede, U.; Egorychev, V.; Eidelman, S.; Eisenhardt, S.; Eitschberger, U.; Ekelhof, R.; Eklund, L.; Ely, S.; Ene, A.; Escher, S.; Esen, S.; Evans, H. M.; Evans, T.; Falabella, A.; Farley, N.; Farry, S.; Fazzini, D.; Federici, L.; Fernandez, G.; Fernandez Declara, P.; Fernandez Prieto, A.; Ferrari, F.; Ferreira Lopes, L.; Ferreira Rodrigues, F.; Ferro-Luzzi, M.; Filippov, S.; Fini, R. A.; Fiorini, M.; Firlej, M.; Fitzpatrick, C.; Fiutowski, T.; Fleuret, F.; Fontana, M.; Fontanelli, F.; Forty, R.; Franco Lima, V.; Frank, M.; Frei, C.; Fu, J.; Funk, W.; Färber, C.; Gabriel, E.; Gallas Torreira, A.; Galli, D.; Gallorini, S.; Gambetta, S.; Gandelman, M.; Gandini, P.; Gao, Y.; Garcia Martin, L. M.; Garcia Plana, B.; García Pardiñas, J.; Garra Tico, J.; Garrido, L.; Gascon, D.; Gaspar, C.; Gavardi, L.; Gazzoni, G.; Gerick, D.; Gersabeck, E.; Gersabeck, M.; Gershon, T.; Ghez, Ph.; Gianí, S.; Gibson, V.; Girard, O. G.; Giubega, L.; Gizdov, K.; Gligorov, V. V.; Golubkov, D.; Golutvin, A.; Gomes, A.; Gorelov, I. V.; Gotti, C.; Govorkova, E.; Grabowski, J. P.; Graciani Diaz, R.; Granado Cardoso, L. A.; Graugés, E.; Graverini, E.; Graziani, G.; Grecu, A.; Greim, R.; Griffith, P.; Grillo, L.; Gruber, L.; Gruberg Cazon, B. R.; Grünberg, O.; Gushchin, E.; Guz, Yu.; Gys, T.; Göbel, C.; Hadavizadeh, T.; Hadjivasiliou, C.; Haefeli, G.; Haen, C.; Haines, S. C.; Hamilton, B.; Han, X.; Hancock, T. H.; Hansmann-Menzemer, S.; Harnew, N.; Harnew, S. T.; Hasse, C.; Hatch, M.; He, J.; Hecker, M.; Heinicke, K.; Heister, A.; Hennessy, K.; Henry, L.; van Herwijnen, E.; Heß, M.; Hicheur, A.; Hill, D.; Hopchev, P. H.; Hu, W.; Huang, W.; Huard, Z. C.; Hulsbergen, W.; Humair, T.; Hushchyn, M.; Hutchcroft, D.; Ibis, P.; Idzik, M.; Ilten, P.; Ivshin, K.; Jacobsson, R.; Jalocha, J.; Jans, E.; Jawahery, A.; Jiang, F.; John, M.; Johnson, D.; Jones, C. R.; Joram, C.; Jost, B.; Jurik, N.; Kandybei, S.; Karacson, M.; Kariuki, J. M.; Karodia, S.; Kazeev, N.; Kecke, M.; Keizer, F.; Kelsey, M.; Kenzie, M.; Ketel, T.; Khairullin, E.; Khanji, B.; Khurewathanakul, C.; Kim, K. E.; Kirn, T.; Klaver, S.; Klimaszewski, K.; Klimkovich, T.; Koliiev, S.; Kolpin, M.; Kopecna, R.; Koppenburg, P.; Kotriakhova, S.; Kozeiha, M.; Kravchuk, L.; Kreps, M.; Kress, F.; Krokovny, P.; Krupa, W.; Krzemien, W.; Kucewicz, W.; Kucharczyk, M.; Kudryavtsev, V.; Kuonen, A. K.; Kvaratskheliya, T.; Lacarrere, D.; Lafferty, G.; Lai, A.; Lanfranchi, G.; Langenbruch, C.; Latham, T.; Lazzeroni, C.; Le Gac, R.; Leflat, A.; Lefrançois, J.; Lefèvre, R.; Lemaitre, F.; Lenisa, P.; Leroy, O.; Lesiak, T.; Leverington, B.; Li, P.-R.; Li, T.; Li, Z.; Liang, X.; Likhomanenko, T.; Lindner, R.; Lionetto, F.; Lisovskyi, V.; Liu, X.; Loh, D.; Loi, A.; Longstaff, I.; Lopes, J. H.; Lucchesi, D.; Lucio Martinez, M.; Lupato, A.; Luppi, E.; Lupton, O.; Lusiani, A.; Lyu, X.; Machefert, F.; Maciuc, F.; Macko, V.; Mackowiak, P.; Maddrell-Mander, S.; Maev, O.; Maguire, K.; Maisuzenko, D.; Majewski, M. W.; Malde, S.; Malecki, B.; Malinin, A.; Maltsev, T.; Manca, G.; Mancinelli, G.; Marangotto, D.; Maratas, J.; Marchand, J. F.; Marconi, U.; Marin Benito, C.; Marinangeli, M.; Marino, P.; Marks, J.; Martellotti, G.; Martin, M.; Martinelli, M.; Martinez Santos, D.; Martinez Vidal, F.; Massafferri, A.; Matev, R.; Mathad, A.; Mathe, Z.; Matteuzzi, C.; Mauri, A.; Maurice, E.; Maurin, B.; Mazurov, A.; McCann, M.; McNab, A.; McNulty, R.; Mead, J. V.; Meadows, B.; Meaux, C.; Meier, F.; Meinert, N.; Melnychuk, D.; Merk, M.; Merli, A.; Michielin, E.; Milanes, D. A.; Millard, E.; Minard, M.-N.; Minzoni, L.; Mitzel, D. S.; Mogini, A.; Molina Rodriguez, J.; Mombächer, T.; Monroy, I. A.; Monteil, S.; Morandin, M.; Morello, G.; Morello, M. J.; Morgunova, O.; Moron, J.; Morris, A. B.; Mountain, R.; Muheim, F.; Mulder, M.; Müller, D.; Müller, J.; Müller, K.; Müller, V.; Naik, P.; Nakada, T.; Nandakumar, R.; Nandi, A.; Nasteva, I.; Needham, M.; Neri, N.; Neubert, S.; Neufeld, N.; Neuner, M.; Nguyen, T. D.; Nguyen-Mau, C.; Nieswand, S.; Niet, R.; Nikitin, N.; Nogay, A.; O'Hanlon, D. P.; Oblakowska-Mucha, A.; Obraztsov, V.; Ogilvy, S.; Oldeman, R.; Onderwater, C. J. G.; Ossowska, A.; Otalora Goicochea, J. M.; Owen, P.; Oyanguren, A.; Pais, P. R.; Palano, A.; Palutan, M.; Panshin, G.; Papanestis, A.; Pappagallo, M.; Pappalardo, L. L.; Parker, W.; Parkes, C.; Passaleva, G.; Pastore, A.; Patel, M.; Patrignani, C.; Pearce, A.; Pellegrino, A.; Penso, G.; Pepe Altarelli, M.; Perazzini, S.; Pereima, D.; Perret, P.; Pescatore, L.; Petridis, K.; Petrolini, A.; Petrov, A.; Petruzzo, M.; Pietrzyk, B.; Pietrzyk, G.; Pikies, M.; Pinci, D.; Pisani, F.; Pistone, A.; Piucci, A.; Placinta, V.; Playfer, S.; Plo Casasus, M.; Polci, F.; Poli Lener, M.; Poluektov, A.; Polukhina, N.; Polyakov, I.; Polycarpo, E.; Pomery, G. J.; Ponce, S.; Popov, A.; Popov, D.; Poslavskii, S.; Potterat, C.; Price, E.; Prisciandaro, J.; Prouve, C.; Pugatch, V.; Puig Navarro, A.; Pullen, H.; Punzi, G.; Qian, W.; Qin, J.; Quagliani, R.; Quintana, B.; Rachwal, B.; Rademacker, J. H.; Rama, M.; Ramos Pernas, M.; Rangel, M. S.; Ratnikov, F.; Raven, G.; Ravonel Salzgeber, M.; Reboud, M.; Redi, F.; Reichert, S.; dos Reis, A. C.; Remon Alepuz, C.; Renaudin, V.; Ricciardi, S.; Richards, S.; Rinnert, K.; Robbe, P.; Robert, A.; Rodrigues, A. B.; Rodrigues, E.; Rodriguez Lopez, J. A.; Rogozhnikov, A.; Roiser, S.; Rollings, A.; Romanovskiy, V.; Romero Vidal, A.; Rotondo, M.; Rudolph, M. S.; Ruf, T.; Ruiz Vidal, J.; Saborido Silva, J. J.; Sagidova, N.; Saitta, B.; Salustino Guimaraes, V.; Sanchez Mayordomo, C.; Sanmartin Sedes, B.; Santacesaria, R.; Santamarina Rios, C.; Santimaria, M.; Santovetti, E.; Sarpis, G.; Sarti, A.; Satriano, C.; Satta, A.; Savrina, D.; Schael, S.; Schellenberg, M.; Schiller, M.; Schindler, H.; Schmelling, M.; Schmelzer, T.; Schmidt, B.; Schneider, O.; Schopper, A.; Schreiner, H. F.; Schubiger, M.; Schune, M. H.; Schwemmer, R.; Sciascia, B.; Sciubba, A.; Semennikov, A.; Sepulveda, E. S.; Sergi, A.; Serra, N.; Serrano, J.; Sestini, L.; Seyfert, P.; Shapkin, M.; Shcheglov, Y.; Shears, T.; Shekhtman, L.; Shevchenko, V.; Siddi, B. G.; Silva Coutinho, R.; Silva de Oliveira, L.; Simi, G.; Simone, S.; Skidmore, N.; Skwarnicki, T.; Smith, I. T.; Smith, M.; Soares Lavra, l.; Sokoloff, M. D.; Soler, F. J. P.; Souza De Paula, B.; Spaan, B.; Spradlin, P.; Stagni, F.; Stahl, M.; Stahl, S.; Stefko, P.; Stefkova, S.; Steinkamp, O.; Stemmle, S.; Stenyakin, O.; Stepanova, M.; Stevens, H.; Stone, S.; Storaci, B.; Stracka, S.; Stramaglia, M. E.; Straticiuc, M.; Straumann, U.; Strokov, S.; Sun, J.; Sun, L.; Swientek, K.; Syropoulos, V.; Szumlak, T.; Szymanski, M.; T'Jampens, S.; Tang, Z.; Tayduganov, A.; Tekampe, T.; Tellarini, G.; Teubert, F.; Thomas, E.; van Tilburg, J.; Tilley, M. J.; Tisserand, V.; Tobin, M.; Tolk, S.; Tomassetti, L.; Tonelli, D.; Tourinho Jadallah Aoude, R.; Tournefier, E.; Traill, M.; Tran, M. T.; Tresch, M.; Trisovic, A.; Tsaregorodtsev, A.; Tully, A.; Tuning, N.; Ukleja, A.; Usachov, A.; Ustyuzhanin, A.; Uwer, U.; Vacca, C.; Vagner, A.; Vagnoni, V.; Valassi, A.; Valat, S.; Valenti, G.; Vazquez Gomez, R.; Vazquez Regueiro, P.; Vecchi, S.; van Veghel, M.; Velthuis, J. J.; Veltri, M.; Veneziano, G.; Venkateswaran, A.; Verlage, T. A.; Vernet, M.; Vesterinen, M.; Viana Barbosa, J. V.; Vieira, D.; Vieites Diaz, M.; Viemann, H.; Vilasis-Cardona, X.; Vitkovskiy, A.; Vitti, M.; Volkov, V.; Vollhardt, A.; Voneki, B.; Vorobyev, A.; Vorobyev, V.; Voß, C.; de Vries, J. A.; Vázquez Sierra, C.; Waldi, R.; Walsh, J.; Wang, J.; Wang, M.; Wang, Y.; Wang, Z.; Ward, D. R.; Wark, H. M.; Watson, N. K.; Websdale, D.; Weiden, A.; Weisser, C.; Whitehead, M.; Wicht, J.; Wilkinson, G.; Wilkinson, M.; Williams, M. R. J.; Williams, M.; Williams, T.; Wilson, F. F.; Wimberley, J.; Winn, M.; Wishahi, J.; Wislicki, W.; Witek, M.; Wormser, G.; Wotton, S. A.; Wyllie, K.; Xiao, D.; Xie, Y.; Xu, A.; Xu, M.; Xu, Q.; Xu, Z.; Xu, Z.; Yang, Z.; Yang, Z.; Yao, Y.; Yin, H.; Yu, J.; Yuan, X.; Yushchenko, O.; Zarebski, K. A.; Zavertyaev, M.; Zhang, L.; Zhang, Y.; Zhelezov, A.; Zheng, Y.; Zhu, X.; Zhukov, V.; Zonneveld, J. B.; Zucchelli, S.

2018-05-01

The CP asymmetry in B - → D s - D 0 and B - → D - D 0 decays is measured using LHCb data corresponding to an integrated luminosity of 3.0 fb-1, collected in pp collisions at centre-of-mass energies of 7 and 8 TeV. The results are A^{CP}({B}-\\to {D}_s-{D}^0)=(-0.4± 0.5± 0.5) and A^{CP}({B}-\\to {D}-{D}^0)=(2.3± 2.7± 0.4)% , where the first uncertainties are statistical and the second systematic. This is the first measurement of A^{CP}({B}-\\to {D}_s-{D}^0) and the most precise determination of A^{CP}({B}-\\to {D}-{D}^0) . Neither result shows evidence of CP violation. [Figure not available: see fulltext.

Disorders of sex development: a genetic study of patients in a multidisciplinary clinic

PubMed Central

Laino, Luigi; Majore, Silvia; Preziosi, Nicoletta; Grammatico, Barbara; De Bernardo, Carmelilia; Scommegna, Salvatore; Rapone, Anna Maria; Marrocco, Giacinto; Bottillo, Irene; Grammatico, Paola

2014-01-01

Sex development is a process under genetic control directing both the bi-potential gonads to become either a testis or an ovary, and the consequent differentiation of internal ducts and external genitalia. This complex series of events can be altered by a large number of genetic and non-genetic factors. Disorders of sex development (DSD) are all the medical conditions characterized by an atypical chromosomal, gonadal, or phenotypical sex. Incomplete knowledge of the genetic mechanisms involved in sex development results in a low probability of determining the molecular definition of the genetic defect in many of the patients. In this study, we describe the clinical, cytogenetic, and molecular study of 88 cases with DSD, including 29 patients with 46,XY and disorders in androgen synthesis or action, 18 with 46,XX and disorders in androgen excess, 17 with 46,XY and disorders of gonadal (testicular) development, 11 classified as 46,XX other, eight with 46,XX and disorders of gonadal (ovarian) development, and five with sex chromosome anomalies. In total, we found a genetic variant in 56 out of 88 of them, leading to the clinical classification of every patient, and we outline the different steps required for a coherent genetic testing approach. In conclusion, our results highlight the fact that each category of DSD is related to a large number of different DNA alterations, thus requiring multiple genetic studies to achieve a precise etiological diagnosis for each patient. PMID:25248670

The first case of 38,XX (SRY-positive) disorder of sex development in a cat.

PubMed

Szczerbal, Izabela; Stachowiak, Monika; Dzimira, Stanislaw; Sliwa, Krystyna; Switonski, Marek

2015-01-01

SRY-positive XX testicular disorder of sex development (DSD) caused by X;Y translocations was not yet reported in domestic animals. In humans it is rarely diagnosed and a majority of clinical features resemble those which are typical for Klinefelter syndrome (KS). Here we describe the first case of SRY-positive XX DSD in a tortoiseshell cat with a rudimentary penis and a lack of scrotum. Molecular analysis showed the presence of two Y-linked genes (SRY and ZFY) and a normal sequence of the SRY gene. Application of classical cytogenetic techniques revealed two X chromosomes (38,XX), but further FISH studies with the use of the whole X chromosome painting probe and BAC probes specific to the Yp chromosome facilitated identification of Xp;Yp translocation. The SRY gene was localised at a distal position of Xp. The karyotype of the studied case was described as: 38,XX.ish der(X)t(X;Y)(p22;p12)(SRY+). Moreover, the X inactivation status assessed by a sequential R-banding and FISH with the SRY-specific probe showed a random inactivation of the derivative X(SRY) chromosome. Our study showed that among DSD tortoiseshell cats, apart from XXY trisomy and XX/XY chimerism, also SRY-positive XX cases may occur. It is hypothesized that the extremely rare occurrence of this abnormality in domestic animals, when compared with humans, may be associated with a different organisation of the Yp arm in these species.

Gender role behavior in children with XY karyotype and disorders of sex development.

PubMed

Jürgensen, Martina; Hiort, Olaf; Holterhus, Paul-Martin; Thyen, Ute

2007-03-01

Children exhibit gender-typical preferences in play, toys, activities and interests, and playmates. Several studies suggest that high concentrations of pre- and postnatal androgens contribute to male-typical behavior development, whereas female-typical behavior develops in the absence of high androgens levels. This study aims to explore the consequences of hypoandrogenization on gender-typical behavior in children who have an XY karyotype and disorder of sex development (DSD). Participants included 33 children (ages 2-12 years) with an XY karyotype and DSD; 21 reared as girls and 12 reared as boys. Children's preferred activities and interests and playmate preferences were assessed with parent report questionnaires, a structured free-play task, and choice of a toy to keep as a gift. Participant's responses were compared to those of children recruited in a pre-school and elementary school survey (N=166). In this study, the degree of hypoandrogenization as indicated by genital stage and diagnosis showed a significant relationship to nearly all of the gender-related behaviors assessed, supporting the hypothesis that masculinization of gender role behavior is a function of prenatal androgen exposure. Despite the fact that children with partial androgen effects reared as girls showed increased "boyish" behaviors, they did not show increased signs of gender identity confusion or instability on a group level. We conclude that androgen exposure plays a decisive role in the development of gender-typical behavior in children with XY karyotype and DSD conditions.

Alcohol assessment among college students using wireless mobile technology.

PubMed

Bernhardt, Jay M; Usdan, Stuart; Mays, Darren; Martin, Ryan; Cremeens, Jennifer; Arriola, Kimberly Jacob

2009-09-01

This study used a two-group randomized design to assess the validity of measuring self-reported alcohol consumption among college students using the Handheld Assisted Network Diary (HAND), a daily diary assessment administered using wireless mobile devices. A convenience sample of college students was recruited at a large, public university in the southeastern United States and randomized into two groups. A randomly assigned group of 86 students completed the daily HAND assessment during the 30-day study and a Timeline Followback (TLFB) at 30-day follow-up. A randomly assigned group of 82 students completed the paper-and-pencil Daily Social Diary (DSD) over the same study period. Data from the daily HAND assessment were compared with the TLFB completed at follow-up by participants who completed the HAND using 95% limits of agreement analysis. Furthermore, individual growth models were used to examine differences between the HAND and DSD by comparing the total drinks, drinking days, and drinks per drinking day captured by the two assessments over the study period. Results suggest that the HAND captured similar levels of alcohol use compared with the TLFB completed at follow-up by the same participants. In addition, comparisons of the two study groups suggest that, controlling for baseline alcohol use and demographics, the HAND assessment captured similar levels of total drinks, drinking days, and drinks per drinking day as the paper-and-pencil DSD. The study findings support the validity of wireless mobile devices as a daily assessment of alcohol use among college students.

Techno-economic analysis of extraction-based separation systems for acetone, butanol, and ethanol recovery and purification.

PubMed

Grisales Díaz, Víctor Hugo; Olivar Tost, Gerard

2017-01-01

Dual extraction, high-temperature extraction, mixture extraction, and oleyl alcohol extraction have been proposed in the literature for acetone, butanol, and ethanol (ABE) production. However, energy and economic evaluation under similar assumptions of extraction-based separation systems are necessary. Hence, the new process proposed in this work, direct steam distillation (DSD), for regeneration of high-boiling extractants was compared with several extraction-based separation systems. The evaluation was performed under similar assumptions through simulation in Aspen Plus V7.3 ® software. Two end distillation systems (number of non-ideal stages between 70 and 80) were studied. Heat integration and vacuum operation of some units were proposed reducing the energy requirements. Energy requirement of hybrid processes, substrate concentration of 200 g/l, was between 6.4 and 8.3 MJ-fuel/kg-ABE. The minimum energy requirements of extraction-based separation systems, feeding a water concentration in the substrate equivalent to extractant selectivity, and ideal assumptions were between 2.6 and 3.5 MJ-fuel/kg-ABE, respectively. The efficiencies of recovery systems for baseline case and ideal evaluation were 0.53-0.57 and 0.81-0.84, respectively. The main advantages of DSD were the operation of the regeneration column at atmospheric pressure, the utilization of low-pressure steam, and the low energy requirements of preheating. The in situ recovery processes, DSD, and mixture extraction with conventional regeneration were the approaches with the lowest energy requirements and total annualized costs.

Clinical aspects of 49 infertile males with 45,X/46,XY mosaicism karyotype: A case series.

PubMed

Mohammadpour Lashkari, F; Sadighi Gilani, M A; Ghaheri, A; Zamanian, M R; Borjian Boroujeni, P; Mohseni Meybodi, A; Sabbaghian, M

2018-06-01

Disorders of sex development (DSD) are congenital abnormalities as an atypical development process in either gonadal or chromosomal structure. It is the cause of the abnormality in phenotype and characteristics. Chromosomal analysis plays an important role in the DSD determination. 45,X/46,XY mosaicism is a rare karyotype, and its prevalence is about 1.5 in 10,000 newborns. It affects the growth, hormonal balance, gonad development and histology. All data such as height, male general appearance, testis size and volume, external genitalia, spermogram and hormonal levels, testis pathology, Y chromosome microdeletion and karyotype, and assisted reproductive technology (ART) outcome were recorded based on patients profile and history. We investigated 64 infertile males with 45,X/46,XY mosaicism. Fifteen cases who had structural abnormalities in Y chromosome were excluded. From 49 available spermogram, 21 cases reported as azoospermic men, while 28 of them classified as nonazoospermic patients in which four of them displayed normal spermogram. According to hormonal evaluation, there were no significant differences between azoospermic and nonazoospermic groups. In azoospermia, only three couples underwent an ART cycle in which all of them failed. From 14 nonazoospermic cases who entered into the ART cycle, three cases experienced a successful pregnancy that one of the prosperous outcomes was twins. In 45,X/46,XY cases, both 45,X and 46,XY cell lines are seen. Various distributions of both cell lines can reflect a wide range of phenotypes that may be the most comprehensive evaluation in infertile males with 45,X/46,XY karyotype. It assumes that karyotyping as a main diagnostic test can enable us to find these rare cases. © 2018 Blackwell Verlag GmbH.

A Multisensor Investigation of Convection During HyMeX SOP1 IOP13

NASA Technical Reports Server (NTRS)

Roberto, N.; Adirosi, E.; Baldini, L.; Casella, D.; Dietrich, S.; Panegrossi, G.; Petracca, M.; Sano, P.; Gatlin, P.

2014-01-01

A multisensor analysis of the convective precipitation event occurred over Rome during the IOP13 (October 15th, 2012) of the HyMeX (Hydrological cycle in the Mediterranean eXperiment) Special Observation Period (SOP) 1 is presented. Thanks to the cooperation among Italian meteorological services and scientific community and a specific agreement with NASA-GSFC, different types of devices for meteorological measurements were made available during the HyMeX SOP.1. For investigating this event, used are the 3-D lightning data provided by the LINET, the CNR ISAC dual-pol C-band radar (Polar 55C), located in Rome, the Drop Size Distributions (DSD) collected by the 2D Video Disdrometer (2DVD) and the collocated Micro Rain Radar (MRR) installed at the Radio Meteorology Lab. of "Sapienza" University of Rome, located 14 km from the Polar 55C radar. The relation between microphysical structure and electrical activity during the convective phase of the event was investigated using LINET lightning data and Polar 55C (working both in PPI and RHI scanning mode) observations. Location of regions of high horizontal reflectivity (Zh) values ( > 50 dBz), indicating convective precipitation, were found to be associated to a high number of LINET strokes. In addition, an hydrometeor classification scheme applied to the Polar 55C scans was used to detect graupel and to identify a relation between number of LINET strokes and integrated IWC of graupel along the event. Properties of DSDs measured by the 2DVD and vertical DSD profiles estimated by MRR and their relation with the lighting activity registered by LINET were investigated with specific focus on the transition from convective to stratiform regimes. A good agreement was found between convection detected by these instruments and the number of strokes detected by LINET.

A Preliminary Analysis of Precipitation Properties and Processes during NASA GPM IFloodS

NASA Technical Reports Server (NTRS)

Carey, Lawrence; Gatlin, Patrick; Petersen, Walt; Wingo, Matt; Lang, Timothy; Wolff, Dave

2014-01-01

The Iowa Flood Studies (IFloodS) is a NASA Global Precipitation Measurement (GPM) ground measurement campaign, which took place in eastern Iowa from May 1 to June 15, 2013. The goals of the field campaign were to collect detailed measurements of surface precipitation using ground instruments and advanced weather radars while simultaneously collecting data from satellites passing overhead. Data collected by the radars and other ground instruments, such as disdrometers and rain gauges, will be used to characterize precipitation properties throughout the vertical column, including the precipitation type (e.g., rain, graupel, hail, aggregates, ice crystals), precipitation amounts (e.g., rain rate), and the size and shape of raindrops. The impact of physical processes, such as aggregation, melting, breakup and coalescence on the measured liquid and ice precipitation properties will be investigated. These ground observations will ultimately be used to improve rainfall estimates from satellites and in particular the algorithms that interpret raw data for the upcoming GPM mission's Core Observatory satellite, which launches in 2014. The various precipitation data collected will eventually be used as input to flood forecasting models in an effort to improve capabilities and test the utility and limitations of satellite precipitation data for flood forecasting. In this preliminary study, the focus will be on analysis of NASA NPOL (S-band, polarimetric) radar (e.g., radar reflectivity, differential reflectivity, differential phase, correlation coefficient) and NASA 2D Video Disdrometers (2DVDs) measurements. Quality control and processing of the radar and disdrometer data sets will be outlined. In analyzing preliminary cases, particular emphasis will be placed on 1) documenting the evolution of the rain drop size distribution (DSD) as a function of column melting processes and 2) assessing the impact of range on ground-based polarimetric radar estimates of DSD properties.

DOE Office of Scientific and Technical Information (OSTI.GOV)

Schumacher, Courtney

One of the U.S. Department of Energy (DOE) Atmospheric Radiation Measurement (ARM) Climate Research Facility’s Parsivel2 disdrometers was deployed at the first ARM Mobile Facility (AMF1) T3 site in Manacapuru, Brazil at the beginning of the second Green Ocean Amazon (GoAmazon)2014/15 intensive operational period (IOP2) in September 2014 through the end of the field campaign in December 2015. The Parsivel2 provided one-minute drop-size distribution (DSD) observations that have already been used for a number of applications related to GoAmazon2014/15 science objectives. The first use was the creation of a reflectivity-rain rate (Z-R) relation enabling the calculation of rain rates frommore » the Brazilian Sistema de Protecao da Amazonia (SIPAM) S-band operational radar in Manaus. The radar-derived rainfall is an important constraint for the variational analysis of a large-scale forcing data set, which was recently released for the two IOPs that took place in the 2014 wet and transition seasons, respectively. The SIPAM radar rainfall is also being used to validate a number of cloud-resolving model simulations being run for the campaign. A second use of the Parsivel2 DSDs has been to provide a necessary reference point to calibrate the vertical velocity retrievals from the AMF1 W Band ARM Cloud Radar (WACR) cloud-profiling and ultra-high-frequency (UHF) wind-profiling instruments. Accurate retrievals of in-cloud vertical velocities are important to understand the microphysical and kinematic properties of Amazonian convective clouds and their interaction with the land surface and atmospheric aerosols. Further use of the Parsivel2 DSD observations can be made to better understand precipitation characteristics and their variability during GoAmazon2014/15.« less

Ambiguous Genitalia

MedlinePlus

... to ask your doctor • What is my baby’s sex? • Does my child need treatment now or later? • Are there support ... for people dealing with this condition? • Should my child see a ... for Parents: http: / / dsdguidelines. org • dsd ...

Efficient high-throughput biological process characterization: Definitive screening design with the ambr250 bioreactor system.

PubMed

Tai, Mitchell; Ly, Amanda; Leung, Inne; Nayar, Gautam

2015-01-01

The burgeoning pipeline for new biologic drugs has increased the need for high-throughput process characterization to efficiently use process development resources. Breakthroughs in highly automated and parallelized upstream process development have led to technologies such as the 250-mL automated mini bioreactor (ambr250™) system. Furthermore, developments in modern design of experiments (DoE) have promoted the use of definitive screening design (DSD) as an efficient method to combine factor screening and characterization. Here we utilize the 24-bioreactor ambr250™ system with 10-factor DSD to demonstrate a systematic experimental workflow to efficiently characterize an Escherichia coli (E. coli) fermentation process for recombinant protein production. The generated process model is further validated by laboratory-scale experiments and shows how the strategy is useful for quality by design (QbD) approaches to control strategies for late-stage characterization. © 2015 American Institute of Chemical Engineers.

Coexistence of Trisomy 13 and SRY (-) XX Ovotesticular Disorder of Sex Development.

PubMed

Ürel Demir, Gizem; Doğan, Özlem Akgün; Şimşek Kiper, Pelin Özlem; Utine, Gülen Eda; Boduroğlu, Koray; Gucer, Safak; Alikaşifoğlu, Mehmet

2017-12-01

Ovotesticular disorder of sex development (OT-DSD) is a rare disorder of sexual differentiation characterized by the presence of both testicular and ovarian tissue in an individual and the majority of cases have been reported with 46,XX karyotype. In 46,XX cases, testicular differentiation may occur due to the translocation of SRY to the X chromosome or to an autosome. Herein, we present a female newborn with a combination of trisomy 13 and SRY (-) XX OT-DSD. Trisomy 13 is a relatively common and well-known chromosomal disorder in which disorders of sexual differentiation are not frequent. In the absence of SRY, overexpression of pro-testis genes, or decreased expression of pro-ovarian/anti-testis genes have been suggested as underlying mechanisms of testicular formation. The findings in this patient were suggestive of an underlying genomic disorder associated with FGF9 and/or SPRY2.

Phenotypic Variation in 46,XX Disorders of Sex Development due to the NR5A1 p.R92W Variant: A Sibling Case Report and Literature Review.

PubMed

Takasawa, Kei; Igarashi, Maki; Ono, Makoto; Takemoto, Akira; Takada, Shuji; Yamataka, Atsuyuki; Ogata, Tsutomu; Morio, Tomohiro; Fukami, Maki; Kashimada, Kenichi

2017-01-01

Recently, a heterozygous missense mutation in NR5A1, p.R92W, was identified as a cause of 46,XX testicular/ovo-testicular disorders of sexual development (DSD). We report a sibling pair with 46,XX DSD due to an NR5A1 mutation with distinct phenotypes, including external and internal genitalia and gonads, for whom different rearing sexes were selected. Thus, the phenotypes of p.R92W vary, even within a family. The father of the patients showed oligozoospermia with the p.R92W mutation, suggesting that in 46,XY individuals, the mutation would cause various gonadal phenotypes. We review and discuss the general role of the R92W mutation in sexual development. © 2018 S. Karger AG, Basel.

A numerical study of linear and nonlinear kinematic models in fish swimming with the DSD/SST method

NASA Astrophysics Data System (ADS)

Tian, Fang-Bao

2015-03-01

Flow over two fish (modeled by two flexible plates) in tandem arrangement is investigated by solving the incompressible Navier-Stokes equations numerically with the DSD/SST method to understand the differences between the geometrically linear and nonlinear models. In the simulation, the motions of the plates are reconstructed from a vertically flowing soap film tunnel experiment with linear and nonlinear kinematic models. Based on the simulations, the drag, lift, power consumption, vorticity and pressure fields are discussed in detail. It is found that the linear and nonlinear models are able to reasonably predict the forces and power consumption of a single plate in flow. Moreover, if multiple plates are considered, these two models yield totally different results, which implies that the nonlinear model should be used. The results presented in this work provide a guideline for future studies in fish swimming.

Gender verification: a term whose time has come and gone.

PubMed

Hercher, Laura

2010-12-01

The process of testing to determine gender in putatively female athletes was developed in order to prevent cheating, but has devolved instead into a clumsy mechanism for detecting disorders of sexual development (DSD's). In over thirty years of compulsory testing, individuals with DSD's have been stigmatized and some have been denied the right to compete, although frequently their condition provided no competitive advantage. More recent guidelines require testing only on a case-by-case basis; the South African runner Caster Semenya was the first major test of this policy, and her experience points to the need for a more sensitive and confidential process. In addition, her case dramatizes the inadequacy of the term "gender verification." Gender identity is a complex entity and resists simple classification. Sports authorities may set guidelines for who can compete, but they should refrain from taking on themselves the authority to decide who is and who is not a female.

Mutations involving the SRY-related gene SOX8 are associated with a spectrum of human reproductive anomalies.

PubMed

Portnoi, Marie-France; Dumargne, Marie-Charlotte; Rojo, Sandra; Witchel, Selma F; Duncan, Andrew J; Eozenou, Caroline; Bignon-Topalovic, Joelle; Yatsenko, Svetlana A; Rajkovic, Aleksandar; Reyes-Mugica, Miguel; Almstrup, Kristian; Fusee, Leila; Srivastava, Yogesh; Chantot-Bastaraud, Sandra; Hyon, Capucine; Louis-Sylvestre, Christine; Validire, Pierre; de Malleray Pichard, Caroline; Ravel, Celia; Christin-Maitre, Sophie; Brauner, Raja; Rossetti, Raffaella; Persani, Luca; Charreau, Eduardo H; Dain, Liliana; Chiauzzi, Violeta A; Mazen, Inas; Rouba, Hassan; Schluth-Bolard, Caroline; MacGowan, Stuart; McLean, W H Irwin; Patin, Etienne; Rajpert-De Meyts, Ewa; Jauch, Ralf; Achermann, John C; Siffroi, Jean-Pierre; McElreavey, Ken; Bashamboo, Anu

2018-04-01

SOX8 is an HMG-box transcription factor closely related to SRY and SOX9. Deletion of the gene encoding Sox8 in mice causes reproductive dysfunction but the role of SOX8 in humans is unknown. Here, we show that SOX8 is expressed in the somatic cells of the early developing gonad in the human and influences human sex determination. We identified two individuals with 46, XY disorders/differences in sex development (DSD) and chromosomal rearrangements encompassing the SOX8 locus and a third individual with 46, XY DSD and a missense mutation in the HMG-box of SOX8. In vitro functional assays indicate that this mutation alters the biological activity of the protein. As an emerging body of evidence suggests that DSDs and infertility can have common etiologies, we also analysed SOX8 in a cohort of infertile men (n = 274) and two independent cohorts of women with primary ovarian insufficiency (POI; n = 153 and n = 104). SOX8 mutations were found at increased frequency in oligozoospermic men (3.5%; P < 0.05) and POI (5.06%; P = 4.5 × 10-5) as compared with fertile/normospermic control populations (0.74%). The mutant proteins identified altered SOX8 biological activity as compared with the wild-type protein. These data demonstrate that SOX8 plays an important role in human reproduction and SOX8 mutations contribute to a spectrum of phenotypes including 46, XY DSD, male infertility and 46, XX POI.

Disorders of sex development expose transcriptional autonomy of genetic sex and androgen-programmed hormonal sex in human blood leukocytes

PubMed Central

Holterhus, Paul-Martin; Bebermeier, Jan-Hendrik; Werner, Ralf; Demeter, Janos; Richter-Unruh, Annette; Cario, Gunnar; Appari, Mahesh; Siebert, Reiner; Riepe, Felix; Brooks, James D; Hiort, Olaf

2009-01-01

Background Gender appears to be determined by independent programs controlled by the sex-chromosomes and by androgen-dependent programming during embryonic development. To enable experimental dissection of these components in the human, we performed genome-wide profiling of the transcriptomes of peripheral blood mononuclear cells (PBMC) in patients with rare defined "disorders of sex development" (DSD, e.g., 46, XY-females due to defective androgen biosynthesis) compared to normal 46, XY-males and 46, XX-females. Results A discrete set of transcripts was directly correlated with XY or XX genotypes in all individuals independent of male or female phenotype of the external genitalia. However, a significantly larger gene set in the PBMC only reflected the degree of external genital masculinization independent of the sex chromosomes and independent of concurrent post-natal sex steroid hormone levels. Consequently, the architecture of the transcriptional PBMC-"sexes" was either male, female or even "intersex" with a discordant alignment of the DSD individuals' genetic and hormonal sex signatures. Conclusion A significant fraction of gene expression differences between males and females in the human appears to have its roots in early embryogenesis and is not only caused by sex chromosomes but also by long-term sex-specific hormonal programming due to presence or absence of androgen during the time of external genital masculinization. Genetic sex and the androgen milieu during embryonic development might therefore independently modulate functional traits, phenotype and diseases associated with male or female gender as well as with DSD conditions. PMID:19570224

Predictors of posttraumatic stress in parents of children diagnosed with a disorder of sex development.

PubMed

Pasterski, Vickie; Mastroyannopoulou, Kiki; Wright, Deborah; Zucker, Kenneth J; Hughes, Ieuan A

2014-02-01

The aims of the current study were twofold: (1) to assess the prevalence/severity of posttraumatic stress symptoms (PTSS) as well as cognitive and emotional responses in parents whose children were diagnosed with a disorder of sex development (DSD); and (2) to assess factors which contributed to PTSS. We hypothesized that parents would show elevated levels of PTSS and that negative cognitive and/or emotional responses would be predictive. Participants were parents of children diagnosed with a DSD. Thirty-six mothers and 11 fathers completed a measure of posttraumatic stress and reported difficulties in the domains of cognition (e.g., confusion) and emotion (e.g., grief). Using multiple regression, we determined factors contributing to parental PTSS. Reported PTSS was high: 31 % of mothers and 18 % of fathers met the threshold for caseness for Posttraumatic Stress Disorder. Regression included: child sex, parent sex, child age at diagnosis, years since diagnosis, genital ambiguity, father occupation, cognitive confusion, and emotional distress. Only cognitive confusion contributed significantly to variance in PTSS. Parents of children with DSD may experience the diagnosis as traumatic, evidenced by high rates of PTSS in the current report. Assessment of reactions to their children's diagnoses revealed that cognitive confusion, and not emotional distress, predicted PTSS. In this case, direct cognitive interventions may be applicable. Though psychological support is widely recommended, no detailed intervention has been offered. Our findings suggest that we may directly apply models successful in other areas of pediatrics, such as pediatric oncology. Future studies may assess the usefulness of such an intervention.

[Measurement of Chemical Compounds in Indoor and Outdoor Air in Chiba City Using Diffusive Sampling Devices].

PubMed

Sakamoto, Hironari; Uchiyama, Shigehisa; Kihara, Akiko; Tsutake, Toyoshige; Bekki, Kanae; Inaba, Yohei; Nakagome, Hideki; Kunugita, Naoki

2015-01-01

Indoor air quality (IAQ) is a major concern, because people on average spend the vast majority of their time indoors and they are repeatedly exposed to indoor air pollutants. In this study, to assess indoor air quality in Chiba City, gaseous chemical compounds were surveyed using four types of diffusive sampler. Gaseous chemical compounds such as carbonyls, volatile organic compounds (VOC), acid gases, basic gases, and ozone were measured in indoor and outdoor air of 50 houses throughout Chiba City in winter and summer. Four types of diffusive sampler were used in this study: DSD-BPE/DNPH packed with 2,4-dinitrophenyl hydrazine and trans-1,2-bis(2-pyridyl)ethylene-coated silica for ozone and carbonyls; VOC-SD packed with Carboxen 564 particles for volatile organic compounds; DSD-TEA packed with triethanolamine-impregnated silica for acid gases; and DSD-NH3 packed with phosphoric acid-impregnated silica for basic gases. Almost all compounds in indoor air were detected at higher concentrations in summer than in winter. However, the nitrogen dioxide concentration in indoor air particularly increased only in winter, which well correlated with the formic acid concentration (correlation coefficient=0.974). The compound with the highest concentrations in indoor air was p-dichlorobenzene, with recorded levels of 13,000 μg m(-3) in summer and 1,100 μg m(-3) in winter in indoor air. p-Dichlorobenzene in summer and nitrogen dioxide in winter are detected at markedly high concentrations. Pollution control and continuous monitoring of IAQ are indispensable for human health.

[Mechanical behaviour of three types of surgical knots using 4/0 monofilament].

PubMed

Gil Santos, Luis; Más-Estellés, Jorge; Salmerón Sánchez, Manuel; Barrios, Carlos

2012-01-01

To experimentally study the behaviour of 4 types of monofilament with 3 knotting techniques, very often used in surgery, employing mechanical tests. Four 4/0 monofilaments were chosen, two of nylon, and the other two of polypropylene. Three types of knot designs were made with each thread. The first design (D-S-S) consisted of a double half-knot (D) followed by one single (S) in the opposite direction, a third S in turn in the opposite direction. The configuration of the second design was D-S-D, and the third, S-S-D. A mechanical fracture test was performed by stretching the thread at a rate of 4N/s, the force and deformation being recorded at intervals of 100 ms. There was a decrease in the force and deformation in the tests on threads with knots compared to threads without knots. In all cases the rupture of the thread occurred in the knot area, presumably due to damage caused to the thread during the knotting process. The D-S-D knot had the greatest resistance with polypropylene threads, and S-S-D provided the greatest resistance with nylon threads Polypropylene threads, with D-S-D knots, should be more indicated to suture tissues that have to support great forces and with little deformation of the suture (e.g., tendons). Nylon threads, with S-S-D knots, would be better indicated for tissues that have to support smaller forces and that require greater elasticity (e.g., skin). Copyright © 2011 AEC. Published by Elsevier Espana. All rights reserved.

Wide spectrum of NR5A1-related phenotypes in 46,XY and 46,XX individuals.

PubMed

Domenice, Sorahia; Machado, Aline Zamboni; Ferreira, Frederico Moraes; Ferraz-de-Souza, Bruno; Lerario, Antonio Marcondes; Lin, Lin; Nishi, Mirian Yumie; Gomes, Nathalia Lisboa; da Silva, Thatiana Evelin; Silva, Rosana Barbosa; Correa, Rafaela Vieira; Montenegro, Luciana Ribeiro; Narciso, Amanda; Costa, Elaine Maria Frade; Achermann, John C; Mendonca, Berenice Bilharinho

2016-12-01

Steroidogenic factor 1 (NR5A1, SF-1, Ad4BP) is a transcriptional regulator of genes involved in adrenal and gonadal development and function. Mutations in NR5A1 have been among the most frequently identified genetic causes of gonadal development disorders and are associated with a wide phenotypic spectrum. In 46,XY individuals, NR5A1-related phenotypes may range from disorders of sex development (DSD) to oligo/azoospermia, and in 46,XX individuals, from 46,XX ovotesticular and testicular DSD to primary ovarian insufficiency (POI). The most common 46,XY phenotype is atypical or female external genitalia with clitoromegaly, palpable gonads, and absence of Müllerian derivatives. Notably, an undervirilized external genitalia is frequently seen at birth, while spontaneous virilization may occur later, at puberty. In 46,XX individuals, NR5A1 mutations are a rare genetic cause of POI, manifesting as primary or secondary amenorrhea, infertility, hypoestrogenism, and elevated gonadotropin levels. Mothers and sisters of 46,XY DSD patients carrying heterozygous NR5A1 mutations may develop POI, and therefore require appropriate counseling. Moreover, the recurrent heterozygous p.Arg92Trp NR5A1 mutation is associated with variable degrees of testis development in 46,XX patients. A clear genotype-phenotype correlation is not seen in patients bearing NR5A1 mutations, suggesting that genetic modifiers, such as pathogenic variants in other testis/ovarian-determining genes, may contribute to the phenotypic expression. Here, we review the published literature on NR5A1-related disease, and discuss our findings at a single tertiary center in Brazil, including ten novel NR5A1 mutations identified in 46,XY DSD patients. The ever-expanding phenotypic range associated with NR5A1 variants in XY and XX individuals confirms its pivotal role in reproductive biology, and should alert clinicians to the possibility of NR5A1 defects in a variety of phenotypes presenting with gonadal dysfunction. Birth Defects Research (Part C) 108:309-320, 2016. © 2016 The Authors Birth Defects Research Part C: Embryo Today: Reviews Published by Wiley Periodicals, Inc. © 2016 The Authors Birth Defects Research Part C: Embryo Today: Reviews Published by Wiley Periodicals, Inc.

Management of pediatric patients with DSD and ambiguous genitalia: Balancing the child's moral claims to self-determination with parental values and preferences.

PubMed

Diamond, David A; Swartz, Jonathan; Tishelman, Amy; Johnson, Judith; Chan, Yee-Ming

2018-06-01

A central ethical dilemma in management of the patient with a disorder of sex development (DSD) is the potential conflict between respect for the fundamental right of the child for physical and emotional integrity and self-determination, and the right of parents to serve as surrogate decision-makers and act in their child's best interest. Over the past 2 years we have encountered three complex DSD cases on the spectrum of mixed gonadal dysgenesis to ovotesticular DSD in which gender assignment and therefore optimal surgical management was uncertain. All patients had mosaic karyotypes with Y chromosome, dysgenetic ovary and dysgenetic testis, a urogenital sinus, and prominent phallus. In all three cases a team approach was taken to assess functional potential and risks along either gender pathway and to develop a spectrum of treatment options for parental consideration, including: 1. masculinization with removal of dysgenetic ovary; 2. initial vaginoplasty but with retention of the phallus (±bilateral gonadectomy); 3. initial vaginoplasty with "burial" of corporal bodies (Pippi Salle procedure) (±bilateral gonadectomy); 4. full feminization: vaginoplasty and clitoroplasty (with bilateral gonadectomy); 5. no surgical intervention. In all three cases, after consideration of risks and benefits of all options, parents selected option 2: gonadectomy to eliminate tumor risk and vaginoplasty, taking advantage of the child's young age to exteriorize urinary and reproductive tracts to avoid incontinence and infection and supporting parental bias toward female gender, but preservation of phallic structures to ensure a male option should the patient later declare a male gender identity. Parents of the three patients were contacted post-operatively (at 7, 17, and 22 months) for follow-up. All (3/3) regarded their child's development and wellbeing positively, and their own decisions regarding gender assignment and surgical plan favorably. All (3/3) regarded the team advisory process as balanced and supportive. In the setting of exposure of the neonatal brain to testosterone, vaginoplasty and phallic preservation afforded a balance between parental preferences and preservation of anatomic options, allowing potential reconstruction of male or female phenotype as gender identity is ascertained thereby respecting both parent and patient rights. Parents valued a spectrum of options, transparency, and the team decision-making process. Copyright © 2018 Journal of Pediatric Urology Company. Published by Elsevier Ltd. All rights reserved.

Raindrop Size Distribution Measurements at 4,500 m on the Tibetan Plateau During TIPEX-III

NASA Astrophysics Data System (ADS)

Chen, Baojun; Hu, Zhiqun; Liu, Liping; Zhang, Guifu

2017-10-01

As part of the third Tibetan Plateau Atmospheric Scientific Experiment field campaign, raindrop size distribution (DSD) measurements were taken with a laser optical disdrometer in Naqu, China, at 4,508 m above sea level (asl) during the summer months of 2013, 2014, and 2015. The characteristics of DSDs for five different rain rates, for two rain types (convective and stratiform), and for daytime and nighttime rains were studied. The shapes of the averaged DSDs were similar for different rain rates, and the width increased with rainfall intensity. Little difference was found in stratiform DSDs between day and night, whereas convective DSDs exhibited a significant day-night difference. Daytime convective DSDs had larger mass-weighted mean diameters (Dm) and smaller generalized intercepts (NW) than the nighttime DSDs. The constrained relations between the intercept N0 and shape μ, slope Λ and μ, and NW and Dm of gamma DSDs were derived. We also derived empirical relations between Dm and the radar reflectivity factor in the Ku and Ka bands.

Identification of De Novo Copy Number Variants Associated with Human Disorders of Sexual Development

PubMed Central

Tannour-Louet, Mounia; Han, Shuo; Corbett, Sean T.; Louet, Jean-Francois; Yatsenko, Svetlana; Meyers, Lindsay; Shaw, Chad A.; Kang, Sung-Hae L.; Cheung, Sau Wai; Lamb, Dolores J.

2010-01-01

Disorders of sexual development (DSD), ranging in severity from genital abnormalities to complete sex reversal, are among the most common human birth defects with incidence rates reaching almost 3%. Although causative alterations in key genes controlling gonad development have been identified, the majority of DSD cases remain unexplained. To improve the diagnosis, we screened 116 children born with idiopathic DSD using a clinically validated array-based comparative genomic hybridization platform. 8951 controls without urogenital defects were used to compare with our cohort of affected patients. Clinically relevant imbalances were found in 21.5% of the analyzed patients. Most anomalies (74.2%) evaded detection by the routinely ordered karyotype and were scattered across the genome in gene-enriched subtelomeric loci. Among these defects, confirmed de novo duplication and deletion events were noted on 1p36.33, 9p24.3 and 19q12-q13.11 for ambiguous genitalia, 10p14 and Xq28 for cryptorchidism and 12p13 and 16p11.2 for hypospadias. These variants were significantly associated with genitourinary defects (P = 6.08×10−12). The causality of defects observed in 5p15.3, 9p24.3, 22q12.1 and Xq28 was supported by the presence of overlapping chromosomal rearrangements in several unrelated patients. In addition to known gonad determining genes including SRY and DMRT1, novel candidate genes such as FGFR2, KANK1, ADCY2 and ZEB2 were encompassed. The identification of risk germline rearrangements for urogenital birth defects may impact diagnosis and genetic counseling and contribute to the elucidation of the molecular mechanisms underlying the pathogenesis of human sexual development. PMID:21048976

Total urogenital sinus mobilization for ambiguous genitalia.

PubMed

Jesus, Vinicius Menezes; Buriti, Francisco; Lessa, Rodrigo; Toralles, Maria Betânia; Oliveira, Luciana Barros; Barroso, Ubirajara

2018-04-01

Genital ambiguity is a very common phenomenon in disorders of sex development (DSD). According to the Chicago Consensus 2006, feminizing genitoplasty, when indicated, should be performed in the most virilized cases (Prader III to V). Advances in the knowledge of genital anatomy in DSD have enabled the development and improvement of various surgical techniques. Mobilization of the urogenital sinus (MUS), first described by Peña, has become incorporated by most surgeons. However, the proximity of the urethral sphincter prompts concern over urinary incontinence, especially for full mobilization of the urogenital sinus. To retrospectively evaluate the short-term surgical results of feminizing genitoplasty with total mobilization of the urogenital sinus in patients with DSD. Review of medical records of all patients undergoing feminizing genitoplasty with mobilization of the urogenital sinus. We evaluated the rates of complications from surgery and of urinary incontinence, as well as cosmetic results, according to the opinion of the surgeon and the family. A total of 8 patients were included in the study. The mean age at surgery was 51months. Congenital adrenal hyperplasia (CAH) was diagnosed in six patients, and gonadal dysgenesis in the other two. The vagina was separated from the urethra, with suitable distance in all cases. No patient had urinary incontinence after surgery. The mean follow-up of patients was. 20months (3-56months). In all cases, surgeons recorded being satisfied with the aesthetic result of post-surgical genitalia. The family was recorded as satisfied with the aesthetic result of the genitalia after surgery. In every case, there was no need for a second surgical procedure. The total mobilization of the urogenital sinus is a feasible and safe technique. The technique permits good cosmetic results, and urinary incontinence is absent. Therapeutic study. Level III. Copyright © 2017 Elsevier Inc. All rights reserved.

Profile of patients with genitourinary anomalies treated in a clinical genetics service in the Brazilian unified health system

PubMed Central

Gazzaneo, Ilanna Fragoso Peixoto; de Queiroz, Camila Maia Costa; Goes, Larissa Clara Vieira; Lessa, Victor José Correia; de Omena, Reinaldo Luna; do Nascimento, Diogo Lucas Lima; Petroli, Reginaldo José; Zanotti, Susane Vasconcelos; Monlleó, Isabella Lopes

2016-01-01

Abstract Objective: To describe the profile of patients with genitourinary abnormalities treated at a tertiary hospital genetics service. Methods: Cross-sectional study of 1068 medical records of patients treated between April/2008 and August/2014. A total of 115 cases suggestive of genitourinary anomalies were selected, regardless of age. A standardized clinical protocol was used, as well as karyotype, hormone levels and genitourinary ultrasound for basic evaluation. Laparoscopy, gonadal biopsy and molecular studies were performed in specific cases. Patients with genitourinary malformations were classified as genitourinary anomalies (GUA), whereas the others, as Disorders of Sex Differentiation (DSD). Chi-square, Fisher and Kruskal–Wallis tests were used for statistical analysis and comparison between groups. Results: 80 subjects met the inclusion criteria, 91% with DSD and 9% with isolated/syndromic GUA. The age was younger in the GUA group (p<0.02), but these groups did not differ regarding external and internal genitalia, as well as karyotype. Karyotype 46,XY was verified in 55% and chromosomal aberrations in 17.5% of cases. Ambiguous genitalia occurred in 45%, predominantly in 46,XX patients (p<0.006). Disorders of Gonadal Differentiation accounted for 25% and congenital adrenal hyperplasia, for 17.5% of the sample. Consanguinity occurred in 16%, recurrence in 12%, lack of birth certificate in 20% and interrupted follow-up in 31% of cases. Conclusions: Patients with DSD predominated. Ambiguous genitalia and abnormal sexual differentiation were more frequent among infants and prepubertal individuals. Congenital adrenal hyperplasia was the most prevalent nosology. Younger patients were more common in the GUA group. Abandonment and lower frequency of birth certificate occurred in patients with ambiguous or malformed genitalia. These characteristics corroborate the literature and show the biopsychosocial impact of genitourinary anomalies. PMID:26522823

Morbidity, Mortality, and Socioeconomics in Females With 46,XY Disorders of Sex Development: A Nationwide Study.

PubMed

Berglund, Agnethe; Johannsen, Trine H; Stochholm, Kirstine; Viuff, Mette H; Fedder, Jens; Main, Katharina M; Gravholt, Claus H

2018-04-01

Little is known about long-term health outcomes in phenotypic females with 46,XY disorders of sex development (XY females), and the socioeconomic profile has not been described in detail. To describe morbidity, mortality, and socioeconomic status in XY females in a comparison to the general population. Nationwide registry study with complete follow-up. Uniform public health care system. A total of 123 XY females karyotyped in Denmark during 1960 to 2012 and a randomly selected age-matched control cohort of 12,300 females and 12,300 males from the general population. Overall mortality and morbidity as well as cause-specific morbidity; medicine use and socioeconomics (education, income, cohabitation, motherhood, and retirement). Compared with female controls, overall morbidity was increased in XY females [hazard ratio (HR), 1.72; 95% confidence interval (CI), 1.43 to 2.08] but not when excluding diagnoses associated with the specific disorder of sex development (DSD) diagnosis or pregnancy and birth (HR, 1.13; CI, 0.93 to 1.37). Mortality was similar to controls (HR, 0.79; CI, 0.35 to 1.77). Cohabitation (HR, 0.44; CI, 0.33 to 0.58) and motherhood (HR, 0.10; CI, 0.05 to 0.18) were reduced in XY females but education (HR, 0.92; CI, 0.61 to 1.37) was similar to controls. Income was higher than among controls in the older years. Morbidity was not increased in XY females when excluding diagnoses associated to the DSD condition per se. Judged on education and income, XY females perform well in the labor market. However, DSD seems to impact on the prospects of family life.

Utility of Ultrasound and Magnetic Resonance Imaging in Patients with Disorders of Sex Development Who Undergo Prophylactic Gonadectomy.

PubMed

Alaniz, V I; Kobernik, E K; Dillman, J; Quint, E H

2016-12-01

To evaluate ultrasonography and magnetic resonance imaging (MRI) in identifying gonads in patients with disorders of sex development (DSD) who undergo prophylactic gonadectomy, and to assess the capacity of preoperative imaging to detect premalignant and malignant transformation. Retrospective cohort at a tertiary referral center of 39 patients with DSD who underwent MRI and/or ultrasonography before prophylactic gonadectomy. None. Identification of gonads on preoperative imaging. Thirty-three patients underwent ultrasonography, which identified 54% (35/65) of gonads and 14 patients had MRI, which identified 41% (11/27) of gonads. There was no significant difference between imaging modalities in the proportion of gonads identified (P = .25). The proportion of pathology-confirmed dysgenetic gonads identified was higher on ultrasound compared with MRI (51% vs 8%; P = .02). There was no difference in the proportion of pathology-confirmed testes identified on ultrasound and MRI (54% vs 71%; P = .33). Eleven out of 39 patients (28%) were diagnosed with a premalignant lesion, and there were no distinguishing characteristics documented on imaging reports to suggest transformation. The only diagnosed malignancy in this series had imaging describing a "normal-sized ovary." Ultrasonography and MRI identified 40%-50% of gonads in patients with DSD who underwent prophylactic gonadectomy, with no significant difference between the 2 modalities. Clinicians should, therefore, consider ultrasonography as a first-line imaging modality. Premalignant lesions were not detected on either imaging modality. The only malignancy was described as a "normal-sized ovary" which should raise concern in a patient with complete gonadal dysgenesis expected to have streak gonads. Copyright © 2016 North American Society for Pediatric and Adolescent Gynecology. Published by Elsevier Inc. All rights reserved.

Supply support of NASA tracking networks

NASA Technical Reports Server (NTRS)

1973-01-01

The extent which supply support for Jet Propulsion Laboratory's Deep Space Network and Goddard Space Flight Center's Space Flight Tracking and Data Network should be consolidated is considered along with the Identification of opportunities for improvements in each of the supply systems without regard to consolidation. There is a considerable amount of commonality between the items in the stock catalogs at the two network depots, 58% for federal stock number items and 30% overall. The workload at the DSIF Supply Depot (DSD) is small (less than 20%) compared to the Network Logistics Depot (NLD). A number of important benefits in supply support would result from a consolidation of DSD into NLD. LMI found that a consolidation as is, without any changes in inventory management techniques, would reduce annual operating costs by from $208,000 to $358,000. However, if the consolidation were coupled with a change to use of economic order quantities, the annual operating cost reduction would range from $930,000 to $1,078,000.

Beyond the Caster Semenya controversy: the case of the use of genetics for gender testing in sport.

PubMed

Wonkam, Ambroise; Fieggen, Karen; Ramesar, Raj

2010-12-01

Caster Semenya won the eight-hundred-meter title in the Berlin World Athletics Championships in 2009. Few hours after, Caster was at the center of a harsh contestation on gender. The International Association of Athletics Federations started an investigation, which was not respectful of her privacy. Caster's case highlights the need for an improvement in the awareness of genetic counseling principles amongst professionals, the public and various stakeholders. We critically examine the historical steps of gender verification in the Olympics, the violation of genetic counseling principles in Caster's case and outline some reflections on the complexity of the genetics of Disorders of sex development (DSD). Variability in both genotypes and phenotypes in DSD may not allow any etiological or functional classification at this point in time that could permit uncontroversial gender verification for fairer sport participation. We strongly suggest revisiting the pertinence of gender verification, and the process whereby this is done.

Parents' experiences of having a baby with ambiguous genitalia.

PubMed

Oliveira, Mailme de Souza; de Paiva-e-Silva, Roberto Benedito; Guerra-Junior, Gil; Maciel-Guerra, Andréa Trevas

2015-07-01

Health professionals must be aware of the impact on parents of the birth of children with ambiguous genitalia. This study aimed to analyze the experiences and perceptions of such parents. Parents of 30 children who were evaluated in a reference center for disorders of sex development (DSD) were interviewed. The questionnaire covered the prenatal period, the moment they were told about the disorder, initial management by health professionals, and problems they experienced. Only two cases were detected during pregnancy. The news was usually given to the mother alone by pediatricians. Most parents kept it secret and avoided exposing the baby to the prejudice of others. Parents of children who were referred without sex assignment usually held a personal belief of their child's sex. Previous assignment was based on clinical examination and/or karyotype. Spreading knowledge about DSD could increase awareness of this issue, thus reducing parents' shock and societal stigma. Training of neonatal care teams is required to avoid assignment before evaluation.

Detecting Delirium Superimposed on Dementia: Evaluation of the Diagnostic Performance of the Richmond Agitation and Sedation Scale.

PubMed

Morandi, Alessandro; Han, Jin H; Meagher, David; Vasilevskis, Eduard; Cerejeira, Joaquim; Hasemann, Wolfgang; MacLullich, Alasdair M J; Annoni, Giorgio; Trabucchi, Marco; Bellelli, Giuseppe

2016-09-01

Delirium disproportionately affects patients with dementia and is associated with adverse outcomes. The diagnosis of delirium superimposed on dementia (DSD), however, can be challenging due to several factors, including the absence of caregivers or the severity of preexisting cognitive impairment. Altered level of consciousness has been advocated as a possible useful indicator of delirium in this population. Here we evaluated the performance of the Richmond Agitation and Sedation Scale (RASS) and the modified-RASS (m-RASS), an ultra-brief measure of the level of consciousness, in the diagnosis of DSD. Multicenter prospective observational study. RASS and m-RASS results were analyzed together, labeled RASS/m-RASS. Acute geriatric wards, in-hospital rehabilitation, emergency department. Patients 65 years and older with dementia. Delirium was diagnosed with the Diagnostic and Statistical Manual of Mental Disorders, 4th edition (DSM-IV) or with the Delirium Rating Scale-Revised (DRS-R-98), or with the 4 A's Test (4AT). Dementia was detected with the Clinical Dementia Rating (CDR) Scale, the Short Form-Informant Questionnaire on Cognitive Decline in the Elderly (IQCODE) or via the clinical records. Of the 645 patients included, 376 (58%) had delirium. According to the instrument used to evaluate delirium, the prevalence was 66% with the 4AT, 23% with the DSM, and 100% with the DRS-R-98. Overall a RASS/m-RASS score other than 0 was 70.5% sensitive (95% confidence interval [CI] 65.9%-75.1%) and 84.8% (CI 80.5%-89.1%) specific for DSD. Using a RASS/m-RASS value greater than +1 or less than -1 as a cutoff, the sensitivity was 30.6% (CI 25.9%-35.2%) and the specificity was 95.5% (CI 93.1%-98.0%). The sensitivity and the specificity did not greatly vary according to the method of delirium diagnosis and the dementia ascertainment, although the specificity was slightly higher when the DSM and the IQCODE were used. In older patients admitted to different clinical settings, the RASS and m-RASS analyzed as a single group had moderate sensitivity and very high specificity for the detection of DSD. Level of consciousness is therefore a valuable clinical indicator that should form part of delirium screening strategies, although for higher sensitivity other methods of assessment should be used. Copyright © 2016 AMDA – The Society for Post-Acute and Long-Term Care Medicine. Published by Elsevier Inc. All rights reserved.

Changes in levels of parental distress after their child with atypical genitalia undergoes genitoplasty.

PubMed

Wolfe-Christensen, Cortney; Wisniewski, Amy B; Mullins, Alexandria J; Reyes, Kristy J; Austin, Paul; Baskin, Laurence; Bernabé, Kerlly; Cheng, Earl; Fried, Allyson; Frimberger, Dominic; Galan, Denise; Gonzalez, Lynette; Greenfield, Saul; Kolon, Thomas; Kropp, Bradley; Lakshmanan, Yegappan; Meyer, Sabrina; Meyer, Theresa; Nokoff, Natalie J; Palmer, Blake; Poppas, Dix; Paradis, Alethea; Yerkes, Elizabeth; Mullins, Larry L

2017-02-01

The birth of a child with a disorder of sex development (DSD) and atypical genitalia can be traumatizing and isolating for families. Parents of children with DSD are at risk for increased levels of psychological distress, including depression, anxiety, illness uncertainty (IU), post-traumatic stress symptoms (PTSS), and impairments in quality of life (QOL). Our previous report indicated that although the majority of parents of children with atypical genitalia were coping well prior to the child's genitoplasty, approximately 25% of them reported experiencing some type of psychological distress. The current study sought to examine the trajectory of parental psychological distress prior to, and 6 months after their child underwent genitoplasty. Parents were recruited as part of an ongoing, prospective, multi-site study involving 10 pediatric hospitals with specialized care for children with atypical genitalia. Results from 49 parents (27 mothers, 22 fathers) of 28 children (17 female sex of rearing, 11 male sex of rearing) born with atypical genitalia (Prader rating of 3-5 in 46,XX DSD or by a Quigley rating of 3-6 in 46,XY DSD or 45,XO/46,XY) were included in the study. There were no significant changes in level of depressive or anxious symptoms or quality of life between baseline and 6-month post-operative follow-up, although mothers continued to report significantly higher levels of depressive symptoms than fathers, and as a group, these parents reported lower QOL than published norms. The level of PTSS significantly decreased for all parents, suggesting that parents may have come through the acute stress phase associated with their child's diagnosis. Finally, while there were no significant changes in IU over the time period, the level of IU for parents of boys actually increased, while parents of girls reported no change (Figure). Six months after their child has undergone genitoplasty, the majority of parents report minimal levels of psychological distress. However, a subset of these parents continue to experience significant distress related to their child's diagnosis. Specifically, parents of boys appear to be at increased risk for difficulties, which may be related to either the lack of clinical diagnosis for almost half of these children or the necessity of two-stage surgeries for the majority of them. We will continue collecting data on these families to better understand the trajectory of these adjustment variables. Copyright © 2016 Journal of Pediatric Urology Company. Published by Elsevier Ltd. All rights reserved.

Raindrop Size Distribution and rainfall in São Paulo, Brazil

NASA Astrophysics Data System (ADS)

Foster, P.; Pereira Filho, A.

2011-12-01

A dataset of 34,452 samples (sampling interval of one minute) collected with a Joss-Waldvogel disdrometer (JWD-RD80) at São Paulo (23°39'S; 46°37'W; 799m), Brazil, between 8 August 2009 and 31 January 2010 was used to study the characteristics of the raindrop size distribution at the transition between convective and stratiform regions. This corresponds to a total of 999.18 mm of rainfall in 574 hours. Most of these rain systems made up of an intense convective line followed by a wide stratiform area. The convective rain area is found to represent about 13% of rain duration, but 75% of the cumulative rainfall. The raindrop size distributions (DSD) were stratified into six rain-rate classes and were fitted to exponential distributions. The radar reflectivity factor - rain-rate (Z-R) relation is found to be different for convective and stratiform areas, with linear and power coefficients smaller and higher, respectively. Results suggests a relation Z = 248R1,43, with the correlation coefficient between rain rate (mm h-1) and radar reflectivity factor (mm6 m-3) of 0.94. The study reveals sharp fluctuations in the drop spectra within and between rainy systems that significantly affect weather radar precipitation estimates. It is intended in the continuation of research work, jointly evaluate the spectra of drops of disdrômetro against measures with polarimetric radar MXPOL. We selected one rain events to present the simultaneous measurements of drop size distributions by JWD-RD80 and radar MXPOL. This rain event occurred on 11 January 2010. This day was chosen because among the events penetration of sea breeze associated with runoff, flooding, floods, landslides, lightning, falling trees and hail was what produced the largest number of occurrences in the MASP. It consisted of a convective shower followed by stratiform rain. The rain gauge recorded 45.4mm of rainfall in just over 1.4h. The JWD-RD80 measured 42.2mm of rainfall. During the convective shower, there were 36 consecutive minutes during which rain rates were above 20mm.h-1. In this time, in 20 minutes the rain rate were above 50mm.h-1. The composite DSD derived from this period showed a good agreement between two spectra except for very small drops. The underestimation of small drops by JWD-RD80 is again the main reason for the discrepancy in drop concentrations. The fallout from the afternoon of 11 January 2010 detected by JWD-RD80 fluctuated between moderate and extreme, with instantaneous precipitation exceeding 124mm.h-1. About 73% of precipitation rates were greater than 10 mm h-1, ie, there was more precipitation associated with convective systems than stratiform. The highest rate of precipitation was estimated at 124.3mm.h-1.

Dog as a model in studies on human hereditary diseases and their gene therapy.

PubMed

Switonski, Marek

2014-03-01

During the last 15 years spectacular progress has been achieved in knowledge on the dog genome organization and the molecular background of hereditary diseases in this species. A majority of canine genetic diseases have their counterparts in humans and thus dogs are considered as a very important large animal model in human biomedicine. Among canine monogenic diseases with known causative gene mutations there are two large groups classified as retinal dystrophies and lysosomal storage diseases. Specific types of these diseases are usually diagnosed in a single or several breeds. A well known disorder, restricted to a single breed, is congenital stationary night blindness described in Briards. This disease is a counterpart of Leber amaurosis in children. On the other hand, one of the most common monogenic human diseases (Duchenne muscular dystrophy), has its canine counterparts in several breeds (e.g., the Golden retriever, Beagle and German short-haired pointer). For some of the canine diseases gene therapy strategy was successfully applied, e.g., for congenital stationary night blindness, rod-cone dystrophy and muccopolysaccharydoses type I, IIIB and VII. Since phenotypic variability between the breeds is exceptionally high, the dog is an interesting model to study the molecular background of congenital malformations (e.g., dwarfism and osteoporosis imperfecta). Also disorders of sexual development (DSD), especially testicular or ovotesticular DSD (78,XX; SRY-negative), which is widely distributed across dozens of breeds, are of particular interest. Studies on the genetic background of canine cancers, a major health problem in this species, are also quite advanced. On the other hand, genetic studies on canine counterparts of major human complex diseases (e.g., obesity, the metabolic syndrome and diabetes mellitus) are still in their infancy. Copyright © 2014 Society for Biology of Reproduction & the Institute of Animal Reproduction and Food Research of Polish Academy of Sciences in Olsztyn. Published by Elsevier Urban & Partner Sp. z o.o. All rights reserved.

DSD Characteristics of a Mid-Winter Tornadic Storm Using C-Band Polarimetric Radar and Two 2D-Video Disdrometers

NASA Technical Reports Server (NTRS)

Thurai, M.; Petersen, W. A.; Carey, L. A.

2010-01-01

Drop size distributions in an evolving tornadic storm are examined using C-band polarimetric radar observations and two 2D-video disdrometers. The E-F2 storm occurred in mid-winter (21 January 2010) in northern Alabama, USA, and caused widespread damage. The evolution of the storm occurred within the C-band radar coverage and moreover, several minutes prior to touch down, the storm passed over a site where several disdrometers including two 2D video disdrometers (2DVD) had been installed. One of the 2DVDs is a low profile unit and the other is a new next generation compact unit currently undergoing performance evaluation. Analyses of the radar data indicate that the main region of precipitation should be treated as a "big-drop" regime case. Even the measured differential reflectivity values (i.e. without attenuation correction) were as high as 6-7 dB within regions of high reflectivity. Standard attenuation-correction methods using differential propagation phase have been "fine tuned" to be applicable to the "big drop" regime. The corrected reflectivity and differential reflectivity data are combined with the co-polar correlation coefficient and specific differential phase to determine the mass-weighted mean diameter, Dm, and the width of the mass spectrum, (sigma)M, as well as the intercept parameter , Nw. Significant areas of high Dm (3-4 mm) were retrieved within the main precipitation areas of the tornadic storm. The "big drop" regime assumption is substantiated by the two sets of 2DVD measurements. The Dm values calculated from 1-minute drop size distributions reached nearly 4 mm, whilst the maximum drop diameters were over 6 mm. The fall velocity measurements from the 2DVD indicate almost all hydrometeors to be fully melted at ground level. Drop shapes for this event are also being investigated from the 2DVD camera data.

Proceedings of the Working Group Session on Fertility Preservation for Individuals with Gender and Sex Diversity.

PubMed

Finlayson, Courtney; Johnson, Emilie K; Chen, Diane; Dabrowski, Elizabeth; Gosiengfiao, Yasmin; Campo-Engelstein, Lisa; Rosoklija, Ilina; Jacobson, Jill; Shnorhavorian, Margarett; Pavone, Mary Ellen; Moravek, Molly B; Bonifacio, Herbert J; Simons, Lisa; Hudson, Janella; Fechner, Patricia Y; Gomez-Lobo, Veronica; Kadakia, Rachel; Shurba, Angela; Rowell, Erin; Woodruff, Teresa K

2016-01-01

Children and adolescents with gender and sex diversity include (1) gender-nonconforming and transgender individuals for whom gender identity or expression are incongruent with birth-assigned sex (heretofore, transgender) and (2) individuals who have differences in sex development (DSD). Although these are largely disparate groups, there is overlap in the medical expertise necessary to care for individuals with both gender and sex diversity. In addition, both groups face potential infertility or sterility as a result of desired medical and surgical therapies. The Ann & Robert H. Lurie Children's Hospital of Chicago (Lurie Children's) gender and sex development program (GSDP) provides specialized multidisciplinary care for both transgender and DSD patients. In response to patient concerns that recommended medical treatments have the potential to affect fertility, the Lurie Children's GSDP team partnered with experts from the Oncofertility Consortium at Northwestern University to expand fertility preservation options to gender and sex diverse youth. This article summarizes the results of a meeting of experts across this field at the annual Oncofertility Consortium conference with thoughts on next steps toward a unified protocol for this patient group.

Identical NR5A1 Missense Mutations in Two Unrelated 46,XX Individuals with Testicular Tissues.

PubMed

Igarashi, Maki; Takasawa, Kei; Hakoda, Akiko; Kanno, Junko; Takada, Shuji; Miyado, Mami; Baba, Takashi; Morohashi, Ken-Ichirou; Tajima, Toshihiro; Hata, Kenichiro; Nakabayashi, Kazuhiko; Matsubara, Yoichi; Sekido, Ryohei; Ogata, Tsutomu; Kashimada, Kenichi; Fukami, Maki

2017-01-01

The role of monogenic mutations in the development of 46,XX testicular/ovotesticular disorders of sex development (DSD) remains speculative. Although mutations in NR5A1 are known to cause 46,XY gonadal dysgenesis and 46,XX ovarian insufficiency, such mutations have not been implicated in testicular development of 46,XX gonads. Here, we identified identical NR5A1 mutations in two unrelated Japanese patients with 46,XX testicular/ovotesticular DSD. The p.Arg92Trp mutation was absent from the clinically normal mothers and from 200 unaffected Japanese individuals. In silico analyses scored p.Arg92Trp as probably pathogenic. In vitro assays demonstrated that compared with wild-type NR5A1, the mutant protein was less sensitive to NR0B1-induced suppression on the SOX9 enhancer element. Other sequence variants found in the patients were unlikely to be associated with the phenotype. The results raise the possibility that specific mutations in NR5A1 underlie testicular development in genetic females. © 2016 WILEY PERIODICALS, INC.

Disorders of sex development: Mothers' experiences of support.

PubMed

Chivers, Clare; Burns, Jan; Deiros Collado, Martha

2017-10-01

An increasing body of research has sought to determine the impact of Disorders of Sex Development (DSD) on the family of the affected child. Little is currently understood about the support needs of the family and how well these needs are met. Interpretive Phenomenological Analysis was used to analyse semi-structured interviews with eight mothers of children with DSD about their experiences of support. Four master themes emerged which encapsulated (a) the stages in their child's development when mothers most needed support, (b) the importance of developing an understanding of the child's condition, (c) the lack of acknowledgement of the emotional needs of the parent and (d) the importance of having close and trusted networks for support. Continuity and availability of support were considered important and while all participants prioritised maintaining privacy about the condition, a minority felt that this impacted the level of support they received. Key time points for support were identified and while some felt that they were well supported others felt that the support available did not meet their emotional needs. Clinical implications and directions for future research were considered.

Loss-of-function mutation in GATA4 causes anomalies of human testicular development

PubMed Central

Lourenço, Diana; Brauner, Raja; Rybczyńska, Magda; Nihoul-Fékété, Claire; McElreavey, Ken; Bashamboo, Anu

2011-01-01

Approximately 1 of every 250 newborns has some abnormality of genital and/or gonadal development. However, a specific molecular cause is identified in only 20% of these cases of disorder of sex development (DSD). We identified a family of French origin presenting with 46,XY DSD and congenital heart disease. Sequencing of the ORF of GATA4 identified a heterozygous missense mutation (p.Gly221Arg) in the conserved N-terminal zinc finger of GATA4. This mutation was not observed in 450 ancestry-matched control individuals. The mutation compromised the ability of the protein to bind to and transactivate the anti-Müllerian hormone (AMH) promoter. The mutation does not interfere with the direct protein–protein interaction, but it disrupts synergistic activation of the AMH promoter by GATA4 and NR5A1. The p.Gly221Arg mutant protein also failed to bind to a known protein partner FOG2 that is essential for gonad formation. Our data demonstrate the key role of GATA4 in human testicular development. PMID:21220346

Design and analysis of DNA strand displacement devices using probabilistic model checking

PubMed Central

Lakin, Matthew R.; Parker, David; Cardelli, Luca; Kwiatkowska, Marta; Phillips, Andrew

2012-01-01

Designing correct, robust DNA devices is difficult because of the many possibilities for unwanted interference between molecules in the system. DNA strand displacement has been proposed as a design paradigm for DNA devices, and the DNA strand displacement (DSD) programming language has been developed as a means of formally programming and analysing these devices to check for unwanted interference. We demonstrate, for the first time, the use of probabilistic verification techniques to analyse the correctness, reliability and performance of DNA devices during the design phase. We use the probabilistic model checker prism, in combination with the DSD language, to design and debug DNA strand displacement components and to investigate their kinetics. We show how our techniques can be used to identify design flaws and to evaluate the merits of contrasting design decisions, even on devices comprising relatively few inputs. We then demonstrate the use of these components to construct a DNA strand displacement device for approximate majority voting. Finally, we discuss some of the challenges and possible directions for applying these methods to more complex designs. PMID:22219398

Disorders of Sex Development: Pediatric Psychology and the Genital Exam.

PubMed

Tishelman, Amy C; Shumer, Daniel E; Nahata, Leena

2017-06-01

To provide suggestions for clinical care of youth with disorders of sex development (DSD) and their families, by drawing on preexisting pediatric psychology literature with a particular focus on child sexual abuse (CSA) genital exams. Relevant peer-reviewed papers published since 1990 in the CSA literature were systematically reviewed, as well as an illustrative sample of general pediatric psychology papers. Empirical research from the CSA literature provided information on prevalence of distress and the impact of provider behavior, the importance of preparation, and proposed interventions. Expert recommendations from CSA literature and general findings gleaned from pediatric psychology also address these issues. Psychological findings in the CSA pediatric population suggest that fears and anxieties are not universal and can be linked to a number of variables. Based on this review, we make a number of recommendations for potential interventions for youth with DSD and their families, emphasizing the need for further clinical research. © The Author 2016. Published by Oxford University Press on behalf of the Society of Pediatric Psychology. All rights reserved. For permissions, please e-mail: journals.permissions@oup.com

A missense mutation in the human cytochrome b5 gene causes 46,XY disorder of sex development due to true isolated 17,20 lyase deficiency.

PubMed

Idkowiak, Jan; Randell, Tabitha; Dhir, Vivek; Patel, Pushpa; Shackleton, Cedric H L; Taylor, Norman F; Krone, Nils; Arlt, Wiebke

2012-03-01

Isolated 17,20 lyase deficiency is commonly defined by apparently normal 17α-hydroxylase activity but severely reduced 17,20 lyase activity of the bifunctional enzyme cytochrome P450 (CYP) enzyme 17A1 (CYP17A1), resulting in sex steroid deficiency but normal glucocorticoid and mineralocorticoid reserve. Cytochrome b5 (CYB5A) is thought to selectively enhance 17,20 lyase activity by facilitating the allosteric interaction of CYP17A1 with its electron donor P450 oxidoreductase (POR). We investigated a large consanguineous family including three siblings with 46,XY disorder of sex development (DSD) presenting with isolated 17,20 lyase deficiency. We investigated the clinical and biochemical phenotype, conducted genetic analyses, and functionally characterized the identified CYB5A mutation in cell-based CYP17A1 coexpression assays. All three siblings presented with 46,XY DSD, sex steroid deficiency, normal mineralocorticoids and glucocorticoids, and a urine steroid metabolome suggestive of isolated 17,20 lyase deficiency. CYP17A1 and POR sequences were normal, but we detected a homozygous CYB5A missense mutation (g.28,400A→T; p.H44L). Functional in vitro analysis revealed normal CYP17A1 17α-hydroxylase activity but severely impaired 17,20 lyase activity. In silico analysis suggested the disruption of CYB5A heme binding by p.H44L. We have identified the first human CYB5A missense mutation as the cause of isolated 17,20 lyase deficiency in three individuals with 46,XY DSD. Detailed review of previously reported cases with apparently isolated 17,20 lyase deficiency due to mutant CYP17A1 and POR reveals impaired 17α-hydroxylase activity as assessed by steroid metabolome analysis and short cosyntropin testing. This suggests that truly isolated 17,20 lyase deficiency is observed only in individuals with inactivating CYB5A mutations.

Shaping parents: impact of contrasting professional counseling on parents' decision making for children with disorders of sex development.

PubMed

Streuli, Jürg C; Vayena, Effy; Cavicchia-Balmer, Yvonne; Huber, Johannes

2013-08-01

The management of disorders or differences of sex development (DSD) remains complex, especially with respect to parents' decision for or against early genitoplasty. Most parents still tend to disfavor postponing surgery until the child is old enough to provide consent. To identify the determinants of parental decisions for or against early sex assignment surgery in DSD children, and in particular to assess the influence of contrasting behavior of health-care professionals and the information they dispense. Preliminary data analysis from a focus group identified two broad approaches to counseling information. Two six-minute counseling videos were produced on this basis: one medicalized, by an endocrinologist, the other demedicalized, by a psychologist. Third-year medical students (N = 89) were randomized to watch either video as prospective parents and report its impact on their decision in a self-administered questionnaire. Statistical analysis of questionnaire responses regarding decisions for or against surgery, including self-assessed impact of potential determinants. Thirty-eight of eighty-nine "parents" (43%) chose early surgery for "their" child, including 27/41 "parents" (66%) shown the medicalized video vs. 11/48 (23%) shown the demedicalized video (P < 0.001). Desired aims for "their" child also differed significantly depending on the counseling approach viewed. Yet "parents" perceived their personal attitudes on a four-point Likert scale as the main influence on their decision although their "attitude" was significantly shaped by the video. Parental decisions concerning early sex assignment surgery for DSD children depend on the health professional counseling received, to a degree of which neither parents nor professionals appear fully aware. In the absence of conclusive data for or against early surgery, there is a danger of medicalized or demedicalized parentalism resulting in irreversible and inadequately grounded decisions, regardless of the consensus statement of 2005 and the subsequent call for multidisciplinary management. © 2013 International Society for Sexual Medicine.

Global Application of the Assessment of Communication Skills of Paediatric Endocrinology Fellows in the Management of Differences in Sex Development Using the ESPE E-Learning.Org Portal.

PubMed

Kranenburg, Laura J C; Reerds, Sam T H; Cools, Martine; Alderson, Julie; Muscarella, Miriam; Magrite, Ellie; Kuiper, Martijn; Abdelgaffar, Shereen; Balsamo, Antonio; Brauner, Raja; Chanoine, Jean Pierre; Deeb, Asma; Fechner, Patricia; German, Alina; Holterhus, Paul Martin; Juul, Anders; Mendonca, Berenice B; Neville, Kristen; Nordenstrom, Anna; Oostdijk, Wilma; Rey, Rodolfo A; Rutter, Meilan M; Shah, Nalini; Luo, Xiaoping; Grijpink, Kalinka; Drop, Stenvert L S

2017-01-01

Information sharing in chronic conditions such as disorders of/differences in sex development (DSD) is essential for a comprehensive understanding by parents and patients. We report on a qualitative analysis of communication skills of fellows undergoing training in paediatric endocrinology. Guidelines are created for the assessment of communication between health professionals and individuals with DSD and their parents. Paediatric endocrinology fellows worldwide were invited to study two interactive online cases (www.espe-elearning.org) and to describe a best practice communication with (i) the parents of a newborn with congenital adrenal hyperplasia and (ii) a young woman with 46,XY gonadal dysgenesis. The replies were analysed regarding completeness, quality, and evidence of empathy. Guidelines for structured assessment of responses were developed by 22 senior paediatric endocrinologists worldwide who assessed 10 selected replies. Consensus of assessors was established and the evaluation guidelines were created. The replies of the fellows showed considerable variation in completeness, quality of wording, and evidence of empathy. Many relevant aspects of competent clinical communication were not mentioned; 15% (case 1) and 17% (case 2) of the replies were considered poor/insufficient. There was also marked variation between 17 senior experts in the application of the guidelines to assess communication skills. The guidelines were then adjusted to a 3-level assessment with empathy as a separate key item to better reflect the qualitative differences in the replies and for simplicity of use by evaluators. E-learning can play an important role in assessing communication skills. A practical tool is provided to assess how information is shared with patients with DSD and their families and should be refined by all stakeholders, notably interdisciplinary health professionals and patient representatives. © 2017 S. Karger AG, Basel.

Prevalence of endocrine and genetic abnormalities in boys evaluated systematically for a disorder of sex development.

PubMed

Nixon, R; Cerqueira, V; Kyriakou, A; Lucas-Herald, A; McNeilly, J; McMillan, M; Purvis, A I; Tobias, E S; McGowan, R; Ahmed, S F

2017-10-01

What is the likelihood of identifying genetic or endocrine abnormalities in a group of boys with 46, XY who present to a specialist clinic with a suspected disorder of sex development (DSD)? An endocrine abnormality of the gonadal axis may be present in a quarter of cases and copy number variants (CNVs) or single gene variants may be present in about half of the cases. Evaluation of 46, XY DSD requires a combination of endocrine and genetic tests but the prevalence of these abnormalities in a sufficiently large group of boys presenting to one specialist multidisciplinary service is unclear. This study was a retrospective review of investigations performed on 122 boys. All boys who attended the Glasgow DSD clinic, between 2010 and 2015 were included in the study. The median external masculinization score (EMS) of this group was 9 (range 1-11). Details of phenotype, endocrine and genetic investigations were obtained from case records. An endocrine abnormality of gonadal function was present in 28 (23%) with a median EMS of 8.3 (1-10.5) whilst the median EMS of boys with normal endocrine investigations was 9 (1.5-11) (P = 0.03). Endocrine abnormalities included a disorder of gonadal development in 19 (16%), LH deficiency in 5 (4%) and a disorder of androgen synthesis in 4 (3%) boys. Of 43 cases who had array-comparative genomic hybridization (array-CGH), CNVs were reported in 13 (30%) with a median EMS of 8.5 (1.5-11). Candidate gene analysis using a limited seven-gene panel in 64 boys identified variants in 9 (14%) with a median EMS of 8 (1-9). Of the 21 boys with a genetic abnormality, 11 (52%) had normal endocrine investigations. A selection bias for performing array-CGH in cases with multiple congenital malformations may have led to a high yield of CNVs. It is also possible that the yield of single gene variants may have been higher than reported if the investigators had used a more extended gene panel. The lack of a clear association between the extent of under-masculinization and presence of endocrine and genetic abnormalities suggests a role for parallel endocrine and genetic investigations in cases of suspected XY DSD. RN was supported by the James Paterson Bursary and the Glasgow Children's Hospital Charity Summer Scholarship. SFA, RM and EST are supported by a Scottish Executive Health Department grant 74250/1 for the Scottish Genomes Partnership. EST is also supported by MRC/EPSRC Molecular Pathology Node and Wellcome Trust ISSF funding. There are no conflicts of interest. None. © The Author 2017. Published by Oxford University Press on behalf of the European Society of Human Reproduction and Embryology.

Gender Identity and Coping in Female 46, XY Adults with Androgen Biosynthesis Deficiency (Intersexuality/DSD)

ERIC Educational Resources Information Center

Schweizer, Katinka; Brunner, Franziska; Schutzmann, Karsten; Schonbucher, Verena; Richter-Appelt, Hertha

2009-01-01

Individuals living with an intersex condition have not received much attention in counseling psychology, although a high need for psychosocial care is obvious. Using a mixed-methods multiple case study with qualitative and quantitative data, the authors explore coping and gender experiences in seven 46, XY intersexual persons with deficiencies of…

ICCE/ICCAI 2000 Full & Short Papers (Virtual Reality in Education).

ERIC Educational Resources Information Center

2000

This document contains the full text of the following full and short papers on virtual reality in education from ICCE/ICCAI 2000 (International Conference on Computers in Education/International Conference on Computer-Assisted Instruction): (1) "A CAL System for Appreciation of 3D Shapes by Surface Development (C3D-SD)" (Stephen C. F. Chan, Andy…

True hermaphrodite: a case report.

PubMed

Iqbal, Muhammad Zafar; Jam, Mazhar Rafee; Saleem, Muhammad; Ahmad, Mushtaq

2011-05-01

True hermaphrodite is one of the rarest variety of disorders of sexual differentiation (DSD) and represents only 5% cases of all. A 3-year-old child presented with left sided undescended testis and penoscrotal hypospadias. Chordee correction was performed 18 months back, elsewhere. At laparotomy Mullerian structures were present on left side. On right side testis was normally descended into the scrotum.

Effects of Physiotherapy in the Treatment of Neurogenic Bladder in Patients Infected with Human T-Lymphotropic Virus 1 (HTLV-1)

PubMed Central

Andrade, Rosana C.P.; Neto, José A.; Andrade, Luciana; Oliveira, Tatiane S. S.; Santos, Dislene N.; Oliveira, Cassius J.V.; Prado, Márcio J.; Carvalho, Edgar M.

2016-01-01

Objective To evaluate the efficacy of physiotherapy for urinary manifestations in patients with HTLV-1-associated lower urinary tract dysfunction. Methods Open clinical trial with 21 patients attending the physiotherapy clinic of the Hospital Universitário, Bahia, Brazil. Combinations of behavioral therapy, perineal exercises and intravaginal/intra-anal electrical stimulation were used. Results The mean age was 54±12 years and 67% were female. After treatment, there was an improvement in symptoms of urinary urgency, frequency, incontinence, nocturia and in the sensation of incomplete emptying (p<0.001). There was also a reduction in the overactive bladder symptom score from 10±4 to 6±3 (p<0.001) and an increasing in the perineal muscle strength (p<0.001). The urodynamic parameters improved, with reduction in the frequency of patients with detrusor hyperactivity from 57.9% to 42.1%; detrusor-sphincter dyssynergia (DSD) from 31.6% to 5.3%; detrusor hypocontractility from 15.8% to 0% and detrusor areflexia from 10.5% to 0%, with positive repercussions in the quality of life in all patients. Conclusion Physiotherapy was effective in cases of HTLV-1-associated neurogenic bladder, reducing symptoms, increasing perineal muscle strength, improving urodynamic parameters and quality of life. PMID:26724409

A Possible Explanation for the Z -R Parameter Inconsistency when Comparing Stratiform and Convective Rainfall

NASA Astrophysics Data System (ADS)

Lane, John; Kasparis, Takis; Michaelides, Silas

2016-04-01

The well-known Z -R power law Z = ARb uses two parameters, A and b, in order to relate rainfall rate R to measured weather radar reflectivity Z. A common method used by researchers is to compute Z and R from disdrometer data and then extract the A-bparameter pair from a log-linear line fit to a scatter plot of Z -R pairs. Even though it may seem far more truthful to extract the parameter pair from a fit of radar ZR versus gauge rainfall rate RG, the extreme difference in spatial and temporal sampling volumes between radar and rain gauge creates a slew of problems that can generally only be solved by using rain gauge arrays and long sampling averages. Disdrometer derived A - b parameters are easily obtained and can provide information for the study of stratiform versus convective rainfall. However, an inconsistency appears when comparing averaged A - b pairs from various researchers. Values of b range from 1.26 to 1.51 for both stratiform and convective events. Paradoxically the values of Afall into three groups: 150 to 200 for convective; 200 to 400 for stratiform; and 400 to 500 again for convective. This apparent inconsistency can be explained by computing the A - b pair using the gamma DSD coupled with a modified drop terminal velocity model, v(D) = αDβ - w, where w is a somewhat artificial constant vertical velocity of the air above the disdrometer. This model predicts three regions of A, corresponding to w < 0, w = 0, and w > 0, which approximately matches observed data.

LBNL DSD Whole Frog Project

Science.gov Websites

500 x 1Byte x 136 images. So each 500 bytes from this dataset represents one scan line of the slice image. For example, using PBM: Get frame one: rawtopgm 256 256 < tomato.data > frame1 Get frames one to four into a single image: rawtopgm 256 1024 < tomato.data >frame1-4 Get frame two (skip

Detrimental soil disturbance associated with timber harvest systems on National Forests in the Northern Region

Treesearch

Derrick Reeves; Deborah Page-Dumroese; Mark Coleman

2011-01-01

Maintaining site productivity on forested lands within the National Forest System is a Federal mandate. To meet this mandate, soil conditions on timber harvest units within the Northern Region of the USDA Forest Service cannot exceed a threshold of 15% areal extent of detrimental soil disturbance (DSD; defined as a combination of compaction, puddling, rutting, burning...

True Hermaphrodite: A Case Report

PubMed Central

Jam, Mazhar Rafee; Saleem, Muhammad; Ahmad, Mushtaq

2011-01-01

True hermaphrodite is one of the rarest variety of disorders of sexual differentiation (DSD) and represents only 5% cases of all. A 3-year-old child presented with left sided undescended testis and penoscrotal hypospadias. Chordee correction was performed 18 months back, elsewhere. At laparotomy Mullerian structures were present on left side. On right side testis was normally descended into the scrotum. PMID:22953283

Evaluation of the Green Microalga Monoraphidium sp. Dek19 Growth Utilizing Ethanol Plant Side Streams and Potential for Biofuel Production

NASA Astrophysics Data System (ADS)

Colson, David Michael

This research was conducted to evaluate the potential for growth of Monoraphidium sp. Dek19 using side streams from an ethanol plant for culture medium. Additionally, the potential of using enzymes to break down the cell wall material to release fermentable sugars and oil was examined. The ethanol streams selected were methanator influent, methanator effluent, and thin stillage. This species of microalgae has been previously studied and found to have the ability to grow in and remediate the effluent water from the DeKalb Sanitary District (DSD). The Monoraphidium sp. Dek19 was grown in various concentrations of the ethanol plant side streams concurrently with algae cultures grown in the DSD effluent. The algae cultures were grown in 250ml flasks to determine the optimal concentrations of the ethanol streams. The concentrations with the growth rate and cell counts closest to or higher than the DSD effluents were selected for further examination. These concentrations were repeated to evaluate the most optimal growth conditions using the ethanol streams in comparison to the DSD effluent grown algae. The selected growth condition for the ethanol streams was determined to be using the methanator effluent as the base water component with the thin stillage added to a 2% concentration. The 2% concentration showed an average increase in cell count to be 8.49% higher than the control cell count. The methanator influent was discarded as a base water component, as the growth of the algae was 40.18% less than that of the control. Other concentrations considered resulted in a decrease in cell. count ranging from 9.20-48.97%. The three closest growth results of the concentration of thin stillage and methanator effluent (1%, 2%, and 4%) were scaled up to 2L flasks to confirm the results on a larger scale. The results showed a greater reduction in the cell count of the 1% and 4% concentrations, 23.52% and 16.31% reduction in cell count respectively. The 2% concentration showed a similar increase in cell count as before at 12.59% increase in cell count over the control. The 2% concentration algae growth cultures were grown exclusively alongside of the control group of DSD effluent grown algae. The solutions were grown to carrying capacity and the algae biomass was extracted from the solution by centrifugation and air drying in a dehydrator. This was repeated until enough biomass was collected to conduct rehydration and a typical anaerobic fermentation process. The resuspended algae were pH adjusted to a pH of 5.2 ±0.2. The algae were treated with a combination of cellulase and alpha-amylase, and put through a liquefaction process at 80°C for 3 hours. The resulting solutions were analyzed using High Performance Liquid Chromatography (HPLC) to evaluate the sugar profile of each treatment. The liquefaction solutions were treated with further enzymes, nutrients, and yeast and ran through an anaerobic fermentation process. The fermentations were allowed to progress for 72 hours, and were again analyzed using an HPLC for ethanol and sugar profile. The fermentation results showed a potential of up to 0.587%w/v ethanol production in a 10% solids microalgae slurry. The remaining fermentation products were analyzed using a petroleum ether lipid extraction unit. This analysis showed that the DSD effluent microalgae had an average of 15.53% lipid content on a dry matter basis, and the methanator effluent with 2% thin stillage added resulted in 28.02% lipid content on a dry matter basis. The fermentation products were also treated with a demulsifier, spun down with a centrifuge, and examination of a released lipid layer was conducted. This analysis showed that there was a thin layer of oil on almost all treatments of the algae solutions when spun down in a centrifuge. These. results indicate that the cellulosic enzymes broke down the cell wall material sufficiently for the quick extraction of the oil without the use of hexane. The entirety of the resulting analysis showed that Monoraphidium sp. Dek19 is a viable option for growth using the side streams from an ethanol plant and the use of enzymes will breakdown the biomass of the algae for production of cellulosic ethanol. Additionally, the extraction of oil can be performed in a quicker and safer manner.

Prevalence of endocrine and genetic abnormalities in boys evaluated systematically for a disorder of sex development

PubMed Central

Nixon, R.; Cerqueira, V.; Kyriakou, A.; Lucas-Herald, A.; McNeilly, J.; McMillan, M.; Purvis, A.I.; Tobias, E.S.; McGowan, R.

2017-01-01

Abstract STUDY QUESTION What is the likelihood of identifying genetic or endocrine abnormalities in a group of boys with 46, XY who present to a specialist clinic with a suspected disorder of sex development (DSD)? SUMMARY ANSWER An endocrine abnormality of the gonadal axis may be present in a quarter of cases and copy number variants (CNVs) or single gene variants may be present in about half of the cases. WHAT IS KNOWN ALREADY Evaluation of 46, XY DSD requires a combination of endocrine and genetic tests but the prevalence of these abnormalities in a sufficiently large group of boys presenting to one specialist multidisciplinary service is unclear. STUDY, DESIGN, SIZE, DURATION This study was a retrospective review of investigations performed on 122 boys. PARTICIPANTS/MATERIALS, SETTING, METHODS All boys who attended the Glasgow DSD clinic, between 2010 and 2015 were included in the study. The median external masculinization score (EMS) of this group was 9 (range 1–11). Details of phenotype, endocrine and genetic investigations were obtained from case records. MAIN RESULTS AND THE ROLE OF CHANCE An endocrine abnormality of gonadal function was present in 28 (23%) with a median EMS of 8.3 (1–10.5) whilst the median EMS of boys with normal endocrine investigations was 9 (1.5–11) (P = 0.03). Endocrine abnormalities included a disorder of gonadal development in 19 (16%), LH deficiency in 5 (4%) and a disorder of androgen synthesis in 4 (3%) boys. Of 43 cases who had array-comparative genomic hybridization (array-CGH), CNVs were reported in 13 (30%) with a median EMS of 8.5 (1.5–11). Candidate gene analysis using a limited seven-gene panel in 64 boys identified variants in 9 (14%) with a median EMS of 8 (1–9). Of the 21 boys with a genetic abnormality, 11 (52%) had normal endocrine investigations. LIMITATIONS, REASONS FOR CAUTION A selection bias for performing array-CGH in cases with multiple congenital malformations may have led to a high yield of CNVs. It is also possible that the yield of single gene variants may have been higher than reported if the investigators had used a more extended gene panel. WIDER IMPLICATIONS OF THE FINDINGS The lack of a clear association between the extent of under-masculinization and presence of endocrine and genetic abnormalities suggests a role for parallel endocrine and genetic investigations in cases of suspected XY DSD. STUDY FUNDING/COMPETING INTEREST(S) RN was supported by the James Paterson Bursary and the Glasgow Children's Hospital Charity Summer Scholarship. SFA, RM and EST are supported by a Scottish Executive Health Department grant 74250/1 for the Scottish Genomes Partnership. EST is also supported by MRC/EPSRC Molecular Pathology Node and Wellcome Trust ISSF funding. There are no conflicts of interest. TRIAL REGISTRATION NUMBER None. PMID:28938747

The Sensitivity of Soil Moisture in Western U.S. Mountains to Changes in Snowmelt

NASA Astrophysics Data System (ADS)

Harpold, A. A.

2014-12-01

Snowmelt is the primary water source for human needs and ecosystems services in much of the Western U.S. Regional warming is expected to hasten snow disappearance and reduce snowpacks. The soil water budget strongly mediates the effects of changing snowmelt patterns by storing water and altering is partitioning to evaporation, transpiration, and runoff. This study therefore asked the research question, "Under what conditions was soil water availability coupled to snowmelt magnitudes and timing across Western U.S. mountains?" We posed three potential hypotheses to explain decoupling between soil water availability and snowmelt: 1. Contributions from post-snowmelt rainfall, 2. Longer growing season length and/or greater water demand, and/or 3. Insufficient soil water storage. Using 259 Snow Telemetry (SNOTEL) stations, we showed that the timing of Peak Soil Moisture (PSM) was strongly explained by snow disappearance (Pearson r-value of 0.62). However, differences in the coupling of PSM with DSD were dependent on soil and bedrock type, with well-drained areas having earlier PSM relative to DSD. A second analysis focused on 48 SNOTEL and Soil Climate Analysis Network (SCAN) stations in the Northwest and Intermountain Western U.S. where detailed soil hydraulic properties existed. We found the timing of snow disappearance was a strong influence (p<0.01) on the number of days per year that soil moisture was below wilting point at individual stations, whereas summer precipitation was a weaker predictor. We develop a framework to classify stations into three classes: 1. stations that were not subject to water stress from changing snowmelt patterns over the historical records, 2. stations subject to water stress during poor snowmelt years, and 3. stations that relied on rainfall to avoid water stress across historical records. Our combined results demonstrate that snow disappearance timing is a first-order control on soil water availability across many Western U.S. mountain ecosystems. However, soils properties could make areas more/less sensitive to changing snowpacks depending on seasonal precipitation patterns. This type of simple framework could be used to identify areas at risk of changing snowpacks and help constrain vegetation distributions as a consequence of climate change.

In Search of "Best Practice": A Professional Journey

ERIC Educational Resources Information Center

Martin, Karen

2012-01-01

In this article, the author tells her professional journey as an educator of students who are deaf and hard of hearing. The author started her career in 1991, fresh out of college with her bachelor's degree in education of the deaf K-12. She took a job at the Delaware School for the Deaf (DSD) as a resident advisor in the dorm program. Here she is…

Habit-based interventions for weight loss maintenance in adults with overweight and obesity: a randomized controlled trial.

PubMed

Cleo, Gina; Glasziou, Paul; Beller, Elaine; Isenring, Elisabeth; Thomas, Rae

2018-04-23

The objective of this study was to determine whether habit-based interventions are clinically beneficial in achieving long-term (12-month) weight loss maintenance and explore whether making new habits or breaking old habits is more effective. Volunteer community members aged 18-75 years who had overweight or obesity (BMI ≥ 25 kg/m 2 ) were randomized in a single-blind, three-arm, randomized controlled trial. Ten Top Tips (TTT), Do Something Different (DSD), and the attention-only waitlist (WL) control groups were conducted for 12 weeks from July to October 2015. Participants were followed up post-intervention (all groups) and at 6 and 12-month post-intervention (Ten Top Tips and Do Something Different only). The primary outcome was weight-loss maintenance at 12-month follow-up. Secondary outcomes included weight loss at all time points, fruit and vegetable consumption, exercise, wellbeing, depression, anxiety, habit strength, and openness to change. Of the 130 participants assessed for eligibility, 75 adults (mean BMI 34.5 kg/m 2 [SD 6.2]), with a mean age of 51 years were recruited. Assessments were completed post-intervention by 66/75 (88%) of participants and by 43/50 (86%) at 12 months. At post-intervention, participants in the Ten Top Tips (-3.3 kg; 95% CI -5.2, -1.4) and Do Something Different (-2.9 kg; 95% CI -4.3, -1.4) interventions lost significantly more weight (P = < .001) than those on the waitlist control (-0.4 kg; 95% CI -1.2, 0.3). Both intervention groups continued to lose further weight to the 12-month follow-up; TTT lost an additional -2.4 kg (95% CI -5.1, 0.4) and DSD lost -1.7 kg (95% CI -3.4, -0.1). At 12-month post-intervention, 28/43 (65%) of participants in both intervention groups had reduced their total body weight by ≥5%, a clinically important change. Habit-based weight-loss interventions-forming new habits (TTT) and breaking old habits (DSD), resulted in clinically important weight-loss maintenance at 12-month follow-up.

Soft drink consumption and gestational diabetes risk in the SUN project.

PubMed

Donazar-Ezcurra, Mikel; Lopez-Del Burgo, Cristina; Martinez-Gonzalez, Miguel A; Basterra-Gortari, Francisco J; de Irala, Jokin; Bes-Rastrollo, Maira

2018-04-01

Gestational diabetes mellitus (GDM) prevalence is increasing worldwide. To the best of our knowledge the specific evaluation of soft drink consumption as a risk factor for developing GDM has only been conducted in the Nurses' Health Study II. To investigate the incidence of GDM according to soft drink consumption in the SUN project. The "Seguimiento Universidad de Navarra" (SUN) project is a prospective and dynamic cohort which included data of 3396 women who notified at least one pregnancy between December 1999 and March 2012. A validated 136-item semi-quantitative food frequency questionnaire was used to assess soft drink consumption. Four categories of sugar-sweetened soft drink (SSSD) and diet soft drink (DSD) consumption (servings) were established: rarely or never (<1/month), low (1-3/month), intermediate (>3/month and ≤1/week) and high (≥2/week). Potential confounders were adjusted through non-conditional logistic regression models. During the follow-up, we identified 172 incident cases of GDM. After adjusting for age, baseline body mass index, family history of diabetes, smoking, total energy intake, physical activity, parity, fast-food consumption, adherence to Mediterranean dietary pattern, alcohol intake, multiple pregnancy, cardiovascular disease/hypertension at baseline, fiber intake, following special diet and snacking, SSSD consumption was significantly associated with an increased risk of incident GDM, with multivariable adjusted odds ratios (OR) of 2.03 (95% confidence interval [CI]: 1.25-3.31) and 1.67 (95% CI: 1.01-2.77) for the highest and intermediate categories, respectively, versus the lowest category (p for linear trend: 0.006). Conversely, DSD consumption was not associated with GDM incidence (adjusted OR: 0.82; 95% CI: 0.52-1.31) for the highest versus the lowest category (p for linear trend: 0.258). Additional sensitivity analyses did not change the results. Higher consumption of SSSDs before pregnancy was an independent risk factor for GDM, however, no association was observed between DSD consumption and GDM risk. Copyright © 2017 Elsevier Ltd and European Society for Clinical Nutrition and Metabolism. All rights reserved.

Using the raindrop size distribution to quantify the soil detachment rate at the laboratory scale

NASA Astrophysics Data System (ADS)

Jomaa, S.; Jaffrain, J.; Barry, D. A.; Berne, A.; Sander, G. C.

2010-05-01

Rainfall simulators are beneficial tools for studying soil erosion processes and sediment transport for different circumstances and scales. They are useful to better understand soil erosion mechanisms and, therefore, to develop and validate process-based erosion models. Simulators permit experimental replicates for both simple and complex configurations. The 2 m × 6 m EPFL erosion flume is equipped with a hydraulic slope control and a sprinkling system located on oscillating bars 3 m above the surface. It provides a near-uniform spatial rainfall distribution. The intensity of the precipitation can be adjusted by changing the oscillation interval. The flume is filled to a depth of 0.32 m with an agricultural loamy soil. Raindrop detachment is an important process in interrill erosion, the latter varying with the soil properties as well as the raindrop size distribution and drop velocity. Since the soil detachment varies with the kinetic energy of raindrops, an accurate characterization of drop size distribution (DSD, measured, e.g., using a laser disdrometer) can potentially support erosion calculations. Here, a laser disdrometer was used at different rainfall intensities in the EPFL flume to quantify the rainfall event in terms of number of drops, diameter and velocity. At the same time, soil particle motion was measured locally using splash cups. These cups measured the detached material rates into upslope and downslope compartments. In contrast to previously reported splash cup experiments, the cups used in this study were equipped at the top with upside-down funnels, the upper part having the same diameter as the soil sampled at the bottom. This ensured that the soil detached and captured by the device was not re-exposed to rainfall. The experimental data were used to quantify the relationship between the raindrop distribution and the splash-driven sediment transport.

Orographic precipitation and vertical velocity characteristics from drop size and fall velocity spectra observed by disdrometers

NASA Astrophysics Data System (ADS)

Lee, Dong-In; Kim, Dong-Kyun; Kim, Ji-Hyeon; Kang, Yunhee; Kim, Hyeonjoon

2017-04-01

During a summer monsoon season each year, severe weather phenomena caused by front, mesoscale convective systems, or typhoons often occur in the southern Korean Peninsula where is mostly comprised of complex high mountains. These areas play an important role in controlling formation, amount, and distribution of rainfall. As precipitation systems move over the mountains, they can develop rapidly and produce localized heavy rainfall. Thus observational analysis in the mountainous areas is required for studying terrain effects on the rapid rainfall development and its microphysics. We performed intensive field observations using two s-band operational weather radars around Mt. Jiri (1950 m ASL) during summertime on June and July in 2015-2016. Observation data of DSD (Drop Size Distribution) from Parsivel disdrometer and (w component) vertical velocity data from ultrasonic anemometers were analyzed for Typhoon Chanhom on 12 July 2015 and the heavy rain event on 1 July 2016. During the heavy rain event, a dual-Doppler radar analysis using Jindo radar and Gunsan radar was also conducted to examine 3-D wind fields and vertical structure of reflectivity in these areas. For examining up-/downdrafts in the windward or leeward side of Mt. Jiri, we developed a new scheme technique to estimate vertical velocities (w) from drop size and fall velocity spectra of Parsivel disdrometers at different stations. Their comparison with the w values observed by the 3D anemometer showed quite good agreement each other. The Z histogram with regard to the estimated w was similar to that with regard to R, indicating that Parsivel-estimated w is quite reasonable for classifying strong and weak rain, corresponding to updraft and downdraft, respectively. Mostly, positive w values (upward) were estimated in heavy rainfall at the windward side (D1 and D2). Negative w values (downward) were dominant even during large rainfall at the leeward side (D4). For D1 and D2, the upward w percentages were larger than the downward w percentages. At the leeward side, the downward w percentages were larger than the upward at D4. Importantly, this suggests that rainfall with R >10 mm hr-1 at the leeward side was more associated by negative w-components of winds. Therefore, we confirmed the possibility of w (up/down draft) estimation by DSD observation using disdrometers and quantitative contribution of w in orographic precipitation, roughly. In addition, the rainrates (R) of precipitation, radar reflectivities (Z) and vertical velocities (w) characteristics are related to the size and fall velocity spectra distributions by disdrometer. The vertical velocities contributed to the orographic precipitation development and dissipation and they clearly showed different values between windward side and leeward side with R variation. Acknowledgement This work was funded by the Korea Meteorological Industry Promotion Agency under Grants KMIPA 2015-5060 and KMIPA 2015-1050.

Analysis of car’s frontal collision against pole

NASA Astrophysics Data System (ADS)

Ispas, N.; Nastasoiu, M.

2017-10-01

Reducing the effects of traffic accidents over the occupants is a major objective of collision attempts. Impacts between the car and the pole are very dangerous for the physical integrity of the car’s occupants. To minimalize the effects of such events on the passengers of a vehicle, a whole series of efforts by both designers and experienced engineers led to increasingly the vehicles safety. The main aim of these paper is to quantify the influences over the car passengers of loads involved by car against pole collisions using the same car model at different speeds. Also, this kind on occupant influences were study using a small car model. Other goal of the paper was the study of the cars stiffness in frontal collision against the pole. The paper’s experimental results were obtained by support of DSD, Dr. Steffan Datentechnik GmbH - Linz, Austria. The described tests were performed in full test facility of DSD Linz, in “Easter 2016 PC-Crash Seminar”. Cars accelerations, velocities, rotations angles after pole impact were registered and discussed. The novelty of the paper consists in studies referred for the same car model involved in car against pole collisions at different impact speeds. Paper’s conclusions can be future used for car safety improvement.

Assessing sex assignment concordance with genotype and phenotype.

PubMed

Suresh, Deepa; Crawford, Jessica; Axelrad, Marni E; Gunn, Sheila K; McCullough, Laurence; Smith, O' Brian; Sutton, Vernon R; Roth, David; Karaviti, Lefkothea P; Dietrich, Jennifer E

2013-03-14

To catalogue patients with DSD and to assess the concordance of genotype and phenotype with sex assignment at birth compared to sex assignment before and following assessment by a Gender Medicine Team (GMT) at one institution, as an initial step in formulating standardized guidelines for management of these conditions. After obtaining IRB approval, a retrospective chart review was conducted patients seen in the Gender Medicine Clinic (GMC) between 2006-2009 at Texas Children's Hospital (TCH), Houston, Texas. McNemar's test and Kappa agreement provided associations of various factors with sex assignment at birth prior to GMT assessment and after GMT assessment. Forty-seven patients seen in the GMC with confirmed DSD. Forty-seven patients met the inclusion criteria. The mean age of the patients at the time of GMT evaluation was 9.1+/-6.1 years; 61.7% had male karyotype, and 38.3% had female karyotype; 51.1% had a male external phenotype, 42.6% had a female external phenotype, and 6.4% had phenotypic ambiguity. Sex assignment was concordant with genotype and phenotype in 63.8% and 86.4%, respectively of cases at the time of birth and in 76.6% and 97.7%, respectively, of cases after assessment by GMT. Long-term outcomes are needed to establish standardized practice guidelines for decision-making.

Body image and sexuality in Indonesian adults with a disorder of sex development (DSD).

PubMed

Ediati, Annastasia; Juniarto, Achmad Zulfa; Birnie, Erwin; Drop, Stenvert L S; Faradz, Sultana M H; Dessens, Arianne B

2015-01-01

In Indonesia, disorders of sex development (DSDs) are not well recognized and medical care for affected individuals is scarce. Consequently, many patients live with ambiguous genitalia and appearance. We compared reported outcomes on body image, sexual functioning, and sexual orientation of 39 adults with DSDs (aged 18 to 41) and 39 healthy controls matched for gender, age, and residential setting (urban, suburban, rural). Differences in gender and treatment status (treated or untreated) were also explored. On body image, adults with DSDs reported dissatisfaction with sex-related body parts. Compared to the matched controls, women with DSDs reported greater sexual distress, and men with DSDs reported lower erectile and ejaculation frequencies, and more dissatisfaction with sexual life but not with sexual desire and activities. Men with DSDs who had undergone genital surgery reported higher erectile and ejaculation frequencies than untreated men. More women than men in the DSDs group reported a nonexclusive heterosexual orientation. DSDs and infertility had a great impact on sexuality. Fear of ostracism complicated DSD acceptance. Findings were compared to those of Western studies. Based on these results, education about DSDs and their psychosexual consequences may help reduce the sexual distress and problems in adults with DSDs and improve quality of life.

Unified Aerosol Microphysics for NWP

DTIC Science & Technology

2013-09-30

it may be treated as a generic variable such as when it is processed by advection, or it may be used specifically like dust in ice nucleation...interactions. We shifted instead to a winter-time passage of a low pressure system across North Africa and the Mediterranean Sea (Figure 1). The strong...MODIS multispectral albedo data, MODIS land surface data, and the NRL DSD for SW Asia and E Asia a multi-variate, non-linear classification was

Crimp-Imbalanced Protective (CRIMP) Fabrics

DTIC Science & Technology

2010-03-31

ILLUSTRATIONS ii LIST OF TABLES iv LIST OF ABBREVIATIONS, ACRONYMS, AND SYMBOLS iv INTRODUCTION 1 THREAT TYPES AND PROTECTION LEVELS 2 HISTORICAL...velocity 3-D Three-dimensional v (vi blank) CRIMP-IMBALANCED PROTECTIVE (CRIMP) FABRICS INTRODUCTION Lightweight, soft-armor systems have...1200 ft/sec D-4 (qi-uO /(B jaug UIBJJS 3i;sei3 (qi-uO 3* dSd ui uoipnpay > .’/ .7 • ’/ i •’/ !/ / *- IT> *- m y / II

Depletion-based techniques for super-resolution imaging of NV-diamond

NASA Astrophysics Data System (ADS)

Jaskula, Jean-Christophe; Trifonov, Alexei; Glenn, David; Walsworth, Ronald

2012-06-01

We discuss the development and application of depletion-based techniques for super-resolution imaging of NV centers in diamond: stimulated emission depletion (STED), metastable ground state depletion (GSD), and dark state depletion (DSD). NV centers in diamond do not bleach under optical excitation, are not biotoxic, and have long-lived electronic spin coherence and spin-state-dependent fluorescence. Thus NV-diamond has great potential as a fluorescent biomarker and as a magnetic biosensor.

The Implications of Using Integrated Software Support Environment for Design of Guidance and Control Systems Software

DTIC Science & Technology

1990-02-01

inspections are performed before each formal review of each software life cycle phase. * Required software audits are performed . " The software is acceptable... Audits : Software audits are performed bySQA consistent with thegeneral audit rules and an auditreportis prepared. Software Quality Inspection (SQI...DSD Software Development Method 3-34 DEFINITION OF ACRONYMS Acronym Full Name or Description MACH Methode d’Analyse et de Conception Flierarchisee

A duplication upstream of SOX9 was not positively correlated with the SRY-negative 46,XX testicular disorder of sex development: A case report and literature review

PubMed Central

XIA, XIN-YI; ZHANG, CUI; LI, TIAN-FU; WU, QIU-YUE; LI, NA; LI, WEI-WEI; CUI, YING-XIA; LI, XIAO-JUN; SHI, YI-CHAO

2015-01-01

The 46,XX male disorder of sex development (DSD) is rarely observed in humans. Patients with DSD are all male with testicular tissue differentiation. The mechanism of sex determination and differentiation remains to be elucidated. In the present case report, an 46,XX inv (9) infertile male negative for the sex-determining region of the Y chromosome (SRY) gene was examined. This infertile male was systemically assessed by semen analysis, serum hormone testing and gonadal biopsy. Formalin-fixed and paraffin-embedded gonad tissues were assessed histochemically. The SRY gene was analyzed by fluorescence in situ hybridization (FISH) and polymerase chain reaction (PCR). The other 23 specific loci, including the azoospermia factor region on the Y chromosome and the sequence-targeted sites of the SRY-box 9 (SOX9) gene were analyzed by PCR. The genes RSPO1, DAX1, SOX3, ROCK, DMRT1, SPRY2 and FGF9 were also assessed using sequencing analysis. Affymetrix Cytogenetics Whole Genome 2.7 M Arrays were used for detecting the genomic DNA from the patient and the parents. The patient with the 46,XX inv (9) (p11q13) karyotype exhibited male primary, however, not secondary sexual characteristics. However, the patient's mother with the 46, XX inv (9) karyotype was unaffected. The testicular tissue dysplasia of the patient was confirmed by tissue biopsy and absence of the SRY gene, and the other 23 loci on the Y chromosome were confirmed by FISH and/or PCR. The RSPO1, DAX1, SOX3, ROCK, DMRT1, SPRY2 and FGF9 genes were sequenced and no mutations were detected. A duplication on the 3 M site in the upstream region of SOX9 was identified in the patient as well as in the mother. The patient with the 46,XX testicular DSD and SRY-negative status was found to be infertile. The duplication on the 3 M site in the upstream region of SOX9 was a polymorphism, which indicated that the change was not a cause of 46,XX male SDS. These clinical, molecular and cytogenetic findings suggested that other unidentified genetic or environmental factors are significant in the regulation of SDS. PMID:26260363

A duplication upstream of SOX9 was not positively correlated with the SRY‑negative 46,XX testicular disorder of sex development: A case report and literature review.

PubMed

Xia, Xin-Yi; Zhang, Cui; Li, Tian-Fu; Wu, Qiu-Yue; Li, Na; Li, Wei-Wei; Cui, Ying-Xia; Li, Xiao-Jun; Shi, Yi-Chao

2015-10-01

The 46,XX male disorder of sex development (DSD) is rarely observed in humans. Patients with DSD are all male with testicular tissue differentiation. The mechanism of sex determination and differentiation remains to be elucidated. In the present case report, an 46,XX inv (9) infertile male negative for the sex‑determining region of the Y chromosome (SRY) gene was examined. This infertile male was systemically assessed by semen analysis, serum hormone testing and gonadal biopsy. Formalin‑fixed and paraffin‑embedded gonad tissues were assessed histochemically. The SRY gene was analyzed by fluorescence in situ hybridization (FISH) and polymerase chain reaction (PCR). The other 23 specific loci, including the azoospermia factor region on the Y chromosome and the sequence-targeted sites of the SRY‑box 9 (SOX9) gene were analyzed by PCR. The genes RSPO1, DAX1, SOX3, ROCK, DMRT1, SPRY2 and FGF9 were also assessed using sequencing analysis. Affymetrix Cytogenetics Whole Genome 2.7 M Arrays were used for detecting the genomic DNA from the patient and the parents. The patient with the 46,XX inv (9) (p11q13) karyotype exhibited male primary, however, not secondary sexual characteristics. However, the patient's mother with the 46, XX inv (9) karyotype was unaffected. The testicular tissue dysplasia of the patient was confirmed by tissue biopsy and absence of the SRY gene, and the other 23 loci on the Y chromosome were confirmed by FISH and/or PCR. The RSPO1, DAX1, SOX3, ROCK, DMRT1, SPRY2 and FGF9 genes were sequenced and no mutations were detected. A duplication on the 3 M site in the upstream region of SOX9 was identified in the patient as well as in the mother. The patient with the 46,XX testicular DSD and SRY‑negative status was found to be infertile. The duplication on the 3 M site in the upstream region of SOX9 was a polymorphism, which indicated that the change was not a cause of 46,XX male SDS. These clinical, molecular and cytogenetic findings suggested that other unidentified genetic or environmental factors are significant in the regulation of SDS.

Long-term psychosocial adjustments, satisfaction related to gender and the family equations in disorders of sexual differentiation with male sex assignment.

PubMed

Gupta, Deepika; Bhardwaj, Madhu; Sharma, Shilpa; Ammini, A C; Gupta, Devendra K

2010-10-01

The varied management and counseling in disorders of sexual differentiation (DSD) depends a lot on the socioeconomic structure. A follow-up study was designed to evaluate the outcome in terms of patient satisfaction with strong socio-cultural issues. Of the 1,134 DSD patients being followed up in pediatric intersex clinic, 60 adolescents and adults assigned male sex in childhood were called for follow-up. They were interviewed for psychosocial and family adjustments including level of acceptance of gender, social relationships and future expectations. The ages ranged from 15 to 25 years (mean, 19.3 ± 3.7 years). The disorders were male pseudo hermaphrodite (MPH)-43, mixed gonadal dysgenesis (MGD)-3, true hermaphrodite (TH)-7 and congenital adrenal hyperplasia (CAH)-7. Of all patients, 85% (51/60) felt satisfied with their gender assignment; 76.9% (46/60) did not feel comfortable with the opposite sex. Penile erections; ejaculation and masculine voice were present in 53, 44 and 47 patients. Facial hair was normal; sparse and absent in 16, 26 and 18 patients, respectively. Stretched penile length was 2.5-9 cm (median, 5.5 cm) and 16/60 patients were satisfied with their penile length; 28 patients required redo surgeries for scrotum diverticulum (1), proximal penile diverticulum (1), stricture urethra (2), hair in the urethra (3), vaginal pouch dilatation (1), orchiopexy (2), residual chordee correction (3), distal urethroplasty (4), urethral fistula repair (21), mastectomy (6) and testicular prosthesis (4). Family support was available to all 85% (51/60) of the patients who had good family relationships. However, only 15% (9/60) felt that they fitted into society. Peer relationships were considered 'good' by 43/60 and poor by 17/60. Two patients had got married and 44.8% (26/58) patients would consider marriage in future. Most patients (42/60) were worried about the smaller size of the phallus and lack of adequate semen, leading to apprehension before marriage. As much as 15 patients had jobs, 15 attended school, 3 attended colleges and 17 illiterate patients were dependent on their families. Despite moral, social and economic support provided by the parents, children with DSD continue to have apprehensions in social adjustments.

Should we question early feminizing genitoplasty for patients with congenital adrenal hyperplasia and XX karyotype?

PubMed

Binet, A; Lardy, H; Geslin, D; Francois-Fiquet, C; Poli-Merol, M L

2016-03-01

There is a wide difference of opinion between the medical-surgical community and advocacy group regarding Disorders of Sexual Development (DSD) secondary to congenital adrenal hyperplasia (CAH) being ranked in the intersex category. This rupture is even more evident when the issue of genitoplasty is brought up. For physicians it is obvious and unequivocal that a person with CAH and an XX karyotype has a female gender identity, whereas associations tend to rank persons with CAH in the intersex category and advocate holding-off on surgical management. A retrospective case study vs. control group, spanning over 40years, included 21 patients who were treated in 3 different centers. Each patient and their parents were contacted independently and interviewed regarding interpersonal relationships, psychological impact of genitoplasty, gender identity and opinion on optimal care management for this disorder. Three couples controls (parent-child) per CAH patients were used and matched according to age, sex assigned at birth and ethnic origin. Sex assigned at birth seemed to concord with the gender identity perceived by the patients in 85.7% of cases. In fact, 89.7% of patients and 100% of parents felt that feminizing genitoplasty should be performed within the first year of life. There is however a significant difference compared to controls who felt that surgical management should occur later on in life. No difference was highlighted during childhood regarding parents-child relationships or social integration. However, during adolescence, the parents-child relationship tended to be significantly more painful for the CAH group. Integrating their parenting role was significantly harder for patients in the CAH-DSD group. In the population of CAH-DSD patients who had genitoplasty the level of sexual fulfillment was not lower to the one reported by the control group. Female sex assignment seems legitimate according to this study and the development of gender identity in these patients matches the sex assigned at birth. Resolving early on the adequacy of the genital anatomy with the sex assigned is promoted by patients as well as their parents. Proper psychomotor development and sexual satisfaction underline the absence of complications related to the surgical technique and the relevance of early surgical management. Copyright © 2016 Elsevier Inc. All rights reserved.

Thoughts on the nature of identity: how disorders of sex development inform clinical research about gender identity disorders.

PubMed

Reiner, William G; Reiner, D Townsend

2012-01-01

Disorders of sex development (DSD), like gender dysphoria, are conditions with major effects on child sexuality and identity, as well as sexual orientation. Each may in some cases lead to change of gender from that assigned neonatally. These similarities-and the conditions' differences-provide a context for reviewing the articles in this issue about clinical approaches to children with gender dysphoria, in relation to assessment, intervention, and ethics.

Male gender identity in children with 46,XX DSD with congenital adrenal hyperplasia after delayed presentation in mid-childhood.

PubMed

Chowdhury, Tanvir Kabir; Laila, Kamrun; Hutson, John M; Banu, Tahmina

2015-12-01

Girls with congenital adrenal hyperplasia (CAH) diagnosed at birth have some masculine behaviors but rarely convert to male gender. In developing countries, however, diagnosis and treatment (with secondary androgen suppression) are delayed. We aimed to assess effect of delayed treatment of CAH on gender identity. As part of a cross-sectional, case-control study of children with disorders of sex development (DSD), there were 11 patients with CAH. Patients and caregivers answered a questionnaire about gender identity, and behavior was assessed by observing toy play. Patients were examined for Prader score and gender identity. Of 11 CAH patients initially raised as girls, 3 (27%) had converted to male gender at presentation (5, 9, 9years) (Prader 3, 4, 4). Of the remaining 8 patients, one 4-year-old (Prader 2) had a male gender identity score. The remaining girls (2-13years, mean 8.1) (Prader 1-3) had gender identity scores in the female range. One third (4/11) of CAH patients presenting in mid-childhood had male gender identity scores, and ¾ had assumed male gender role. Although social and cultural factors are important in developing countries, this result suggests that delayed treatment may trigger male gender identity, and delayed female genital surgery may be unwise. Copyright © 2015 Elsevier Inc. All rights reserved.

Involving Individuals with Disorders of Sex Development and Their Parents in Exploring New Models of Shared Learning: Proceedings from a DSDnet COST Action Workshop.

PubMed

Sanders, Caroline; Hall, Joanne; Sanders, Caroline; Dessens, Arianne; Bryce, Jillian; Callens, Nina; Cools, Martine; Kourime, Mariam; Kyriakou, Andreas; Springer, Alexander; Audi, Laura; Balsamo, Antonio; Iotova, Violeta; Mladenov, Vilhelm; Krawczynski, Maciej; Nordenskjöld, Agneta; Rozas, Marta; Claahsen-van der Grinten, Hedi; Hiort, Olaf; Riedl, Stefan; Ahmed, S Faisal

2018-06-23

The level of connection between health care professionals and people who experience a condition that affects sex development is variable. These people and associated support groups need to be included in discussions about research and healthcare delivery. The aim of this study was to understand the experiences of individuals with disorders of sexual development (DSD), their parents, health care providers, and support groups. Workshop planning, preparation, delivery, and evaluation involved members of working groups from the COST Action DSDnet. A coordinator, in collaboration with a support group representative, led the workshop design and delivery. Our successful, facilitated workshop involved 33 attendees from 8 EU countries. The workshop provided individuals with DSD, parents, advisory groups, and professionals with an opportunity for shared learning. Outputs focused on 7 key areas, including diagnosis, childhood, and transition to adult care as well as fostering discussion around registries, future research topics, consent processes, and information needs across the life course. The importance of trustworthy and knowledgeable providers, time to understand such rare conditions, and the place support groups have in a life course approach were valuable learning points for all attendees. In conclusion, workshops can be designed and delivered in meaningful ways for all those involved in care of individuals with rare conditions. © 2018 S. Karger AG, Basel.

Duplication of SOX9 associated with 46,XX ovotesticular disorder of sex development.

PubMed

López-Hernández, Berenice; Méndez, Juan Pablo; Coral-Vázquez, Ramón Mauricio; Benítez-Granados, Jesús; Zenteno, Juan Carlos; Villegas-Ruiz, Vanessa; Calzada-León, Raúl; Soderlund, Daniela; Canto, Patricia

2018-04-04

The purpose of the present study was to investigate whether ten unrelated SRY-negative individuals with this sex differentiation disorder presented a double dose of SOX9 as the cause of their disease. Ten unrelated SRY-negative 46,XX ovotesticular disorder of sexual development (DSD) subjects were molecularly studied. Multiplex-ligation dependent probe amplification (MLPA) and quantitative real-time PCR analysis (qRT-PCR) for SOX9 were performed. The MLPA analysis demonstrated that one patient presented a heterozygous duplication of the entire SOX9 coding region (above 1.3 value of peak ratio), as well as at least a ~ 483 kb upstream duplication. Moreover, no duplication of other SOX9 probes was observed corresponding to the region between -1007 and -1500 kb upstream. A qRT-PCR analysis showed a duplication of at least -581 kb upstream and ~1.63 kb of the coding region that encompasses exon 3. The limits of the duplication were mapped approximately from ~71539762 to 72122741 of Chr17. No molecular abnormalities were found in the remaining nine patients. This study is thought to be the first report regarding a duplication of SOX9 that is associated with the presence of 46,XX ovotesticular DSD, encompassing at least -581 kb upstream, and the almost entire coding region of the gene. Copyright © 2018 Reproductive Healthcare Ltd. Published by Elsevier Ltd. All rights reserved.

Adrenal Insufficiency, Sex Reversal, and Angelman Syndrome due to Uniparental Disomy Unmasking a Mutation in CYP11A1.

PubMed

Kim, Ahlee; Fujimoto, Masanobu; Hwa, Vivian; Backeljauw, Philippe; Dauber, Andrew

2018-01-01

Cholesterol side-chain cleavage enzyme (P450scc) deficiency is a rare genetic disorder causing primary adrenal insufficiency with or without a 46,XY disorder of sexual development (DSD). Herein, we report a case of the combination of primary adrenal insufficiency, a DSD (testes with female external genitalia in a setting of a 47,XXY karyotype), and Angelman syndrome. Comprehensive genetic analyses were performed, including a single nucleotide polymorphism microarray and whole-exome sequencing. In vitro studies were performed to evaluate the pathogenicity of the novel mutation that was identified by whole-exome sequencing. The patient was found to have segmental uniparental disomy (UPD) of chromosome 15 explaining her diagnosis of Angelman syndrome. Whole-exome sequencing further revealed a novel homozygous intronic variant in CYP11A1, the gene encoding P450scc, found within the region of UPD. In vitro studies confirmed that this variant led to decreased efficiency of CYP11A1 splicing. We report the first case of the combination of 2 rare genetic disorders, Angelman syndrome, and P450scc deficiency. After 20 years of diagnostic efforts, significant advances in genetic diagnostic technology allowed us to determine that these 2 disorders originate from a unified genetic etiology, segmental UPD unmasking a novel recessive mutation in CYP11A1. © 2018 S. Karger AG, Basel.

Optical Extinction Measurements of Laser Side-Scatter During Tropical Storm Colin

NASA Technical Reports Server (NTRS)

Lane, John E.; Kasparis, Takis; Metzger, Philip; Michaelides, Silas

2017-01-01

A side-scatter imaging (SSI) technique using a 447 nm, 500 mW laser and a Nikon D80 camera was tested at Kennedy Space Center, Florida during the passing of a rain band associated with Tropical Storm Colin. The June 6, 2016, 22:00 GMT rain event was intense but short-lived owing to the strong west-to-east advection of the rain band. An effort to validate the optical extinction measurement was conducted by setting up a line of three tipping rain gauges along an 80 m east-west path and below the laser beam. Differences between tipping bucket measurements were correlated to the extinction coefficient profile along the lasers path, as determined by the SSI measurement. In order to compare the tipping bucket to the optical extinction data, a Marshall-Palmer DSD model was assumed. Since this was a daytime event, the laser beam was difficult to detect in the camera images, pointing out an important limitation of SSI measurements: the practical limit of DSD density that can be effectively detected and analyzed under daylight conditions using this laser and camera, corresponds to a fairly moderate rainfall rate on the order of 20 mmh (night measurements achieve a much improved sensitivity). The SSI analysis model under test produced promising results, but in order to use the SSI method for routine meteorological studies, improvements to the math model will be required.

XY (SRY-positive) Ovarian Disorder of Sex Development in Cattle.

PubMed

De Lorenzi, Lisa; Arrighi, Silvana; Rossi, Elena; Grignani, Pierangela; Previderè, Carlo; Bonacina, Stefania; Cremonesi, Fausto; Parma, Pietro

2018-06-13

In mammals, the sex of the embryo depends on the SRY gene. In the presence of at least one intact and functional copy of this genetic factor (XY embryo) undifferentiated gonads will develop as testicles that subsequently determine the male phenotype. When this factor is not present, i.e., in subjects with 2 X chromosomes, an alternative pathway induces the development of ovaries, hence a female phenotype. In this case study, we describe a female cattle affected by a disorder of sex development (DSD). The subject, despite having a chromosomal XY constitution, did not develop testicles but ovaries, although they were underdeveloped. Moreover, genetic analysis highlighted the presence of the SRY gene with a normal coding region in both blood- and tissue-derived DNA. A chimeric condition was excluded in blood by sexing more than 350 cells and by allele profile investigation of 18 microsatellite markers. Array CGH analysis showed the presence of a not yet described 99-kb duplication (BTA18), but its relationship with the phenotype remains to be demonstrated. Gonadal histology demonstrated paired ovaries: the left one containing a large corpus luteum and the right one showing an underdeveloped aspect and very few early follicles. To our knowledge, we describe the first case of XY (SRY+) DSD in cattle with a normal SRY gene coding sequence. © 2018 S. Karger AG, Basel.

Close-range radar rainfall estimation and error analysis

NASA Astrophysics Data System (ADS)

van de Beek, C. Z.; Leijnse, H.; Hazenberg, P.; Uijlenhoet, R.

2016-08-01

Quantitative precipitation estimation (QPE) using ground-based weather radar is affected by many sources of error. The most important of these are (1) radar calibration, (2) ground clutter, (3) wet-radome attenuation, (4) rain-induced attenuation, (5) vertical variability in rain drop size distribution (DSD), (6) non-uniform beam filling and (7) variations in DSD. This study presents an attempt to separate and quantify these sources of error in flat terrain very close to the radar (1-2 km), where (4), (5) and (6) only play a minor role. Other important errors exist, like beam blockage, WLAN interferences and hail contamination and are briefly mentioned, but not considered in the analysis. A 3-day rainfall event (25-27 August 2010) that produced more than 50 mm of precipitation in De Bilt, the Netherlands, is analyzed using radar, rain gauge and disdrometer data. Without any correction, it is found that the radar severely underestimates the total rain amount (by more than 50 %). The calibration of the radar receiver is operationally monitored by analyzing the received power from the sun. This turns out to cause a 1 dB underestimation. The operational clutter filter applied by KNMI is found to incorrectly identify precipitation as clutter, especially at near-zero Doppler velocities. An alternative simple clutter removal scheme using a clear sky clutter map improves the rainfall estimation slightly. To investigate the effect of wet-radome attenuation, stable returns from buildings close to the radar are analyzed. It is shown that this may have caused an underestimation of up to 4 dB. Finally, a disdrometer is used to derive event and intra-event specific Z-R relations due to variations in the observed DSDs. Such variations may result in errors when applying the operational Marshall-Palmer Z-R relation. Correcting for all of these effects has a large positive impact on the radar-derived precipitation estimates and yields a good match between radar QPE and gauge measurements, with a difference of 5-8 %. This shows the potential of radar as a tool for rainfall estimation, especially at close ranges, but also underlines the importance of applying radar correction methods as individual errors can have a large detrimental impact on the QPE performance of the radar.

The development and operation of the international solar-terrestrial physics central data handling facility

NASA Technical Reports Server (NTRS)

Lehtonen, Kenneth

1994-01-01

The National Aeronautics and Space Administration (NASA) Goddard Space Flight Center (GSFC) International Solar-Terrestrial Physics (ISTP) Program is committed to the development of a comprehensive, multi-mission ground data system which will support a variety of national and international scientific missions in an effort to study the flow of energy from the sun through the Earth-space environment, known as the geospace. A major component of the ISTP ground data system is an ISTP-dedicated Central Data Handling Facility (CDHF). Acquisition, development, and operation of the ISTP CDHF were delegated by the ISTP Project Office within the Flight Projects Directorate to the Information Processing Division (IPD) within the Mission Operations and Data Systems Directorate (MO&DSD). The ISTP CDHF supports the receipt, storage, and electronic access of the full complement of ISTP Level-zero science data; serves as the linchpin for the centralized processing and long-term storage of all key parameters generated either by the ISTP CDHF itself or received from external, ISTP Program approved sources; and provides the required networking and 'science-friendly' interfaces for the ISTP investigators. Once connected to the ISTP CDHF, the online catalog of key parameters can be browsed from their remote processing facilities for the immediate electronic receipt of selected key parameters using the NASA Science Internet (NSI), managed by NASA's Ames Research Center. The purpose of this paper is twofold: (1) to describe how the ISTP CDHF was successfully implemented and operated to support initially the Japanese Geomagnetic Tail (GEOTAIL) mission and correlative science investigations, and (2) to describe how the ISTP CDHF has been enhanced to support ongoing as well as future ISTP missions. Emphasis will be placed on how various project management approaches were undertaken that proved to be highly effective in delivering an operational ISTP CDHF to the Project on schedule and within budget. Examples to be discussed include: the development of superior teams; the use of Defect Causal Analysis (DCA) concepts to improve the software development process in a pilot Total Quality Management (TQM) initiative; and the implementation of a robust architecture that will be able to support the anticipated growth in the ISTP Program science requirements with only incremental upgrades to the baseline system. Further examples include the use of automated data management software and the implementation of Government and/or industry standards, whenever possible, into the hardware and software development life-cycle. Finally, the paper will also report on several new technologies (for example, the installation of a Fiber Data Distribution Interface network) that were successfully employed.

Accounting for rainfall evaporation using dual-polarization radar and mesoscale model data

NASA Astrophysics Data System (ADS)

Pallardy, Quinn; Fox, Neil I.

2018-02-01

Implementation of dual-polarization radar should allow for improvements in quantitative precipitation estimates due to dual-polarization capability allowing for the retrieval of the second moment of the gamma drop size distribution. Knowledge of the shape of the DSD can then be used in combination with mesoscale model data to estimate the motion and evaporation of each size of drop falling from the height at which precipitation is observed by the radar to the surface. Using data from Central Missouri at a range between 130 and 140 km from the operational National Weather Service radar a rain drop tracing scheme was developed to account for the effects of evaporation, where individual raindrops hitting the ground were traced to the point in space and time where they interacted with the radar beam. The results indicated evaporation played a significant role in radar rainfall estimation in situations where the atmosphere was relatively dry. Improvements in radar estimated rainfall were also found in these situations by accounting for evaporation. The conclusion was made that the effects of raindrop evaporation were significant enough to warrant further research into the inclusion high resolution model data in the radar rainfall estimation process for appropriate locations.

The variability of the rainfall rate as a function of area

NASA Astrophysics Data System (ADS)

Jameson, A. R.; Larsen, M. L.

2016-01-01

Distributions of drop sizes can be expressed as DSD = Nt × PSD, where Nt is the total number of drops in a sample and PSD is the frequency distribution of drop diameters (D). Their discovery permitted remote sensing techniques for rainfall estimation using radars and satellites measuring over large domains of several kilometers. Because these techniques depend heavily on higher moments of the PSD, there has been a bias toward attributing the variability of the intrinsic rainfall rates R over areas (σR) to the variability of the PSDs. While this variability does increase up to a point with increasing domain dimension L, the variability of the rainfall rate R also depends upon the variability in the total number of drops Nt. We show that while the importance of PSDs looms large for small domains used in past studies, it is the variability of Nt that dominates the variability of R as L increases to 1 km and beyond. The PSDs contribute to the variability of R through the relative dispersion of χ = D3Vt, where Vt is the terminal fall speed of drops of diameter D. However, the variability of χ is inherently limited because drop sizes and fall speeds are physically limited. In contrast, it is shown that the variance of Nt continuously increases as the domain expands for physical reasons explained below. Over domains larger than around 1 km, it is shown that Nt dominates the variance of the rainfall rate with increasing L regardless of the PSD.

Study concerning the loads over driver's chests in car crashes with cars of the same or different generation

NASA Astrophysics Data System (ADS)

Ispas, N.; Năstăsoiu, M.

2016-08-01

Reducing occupant injuries for cars involves in traffic accidents is a main target of today cars designers. Known as active or passive safety, many technological solutions were developing over the time for an actual better car's occupant safety. In the real world, in traffic accidents are often involved cars from different generations with various safety historical solutions. The main aim of these papers are to quantify the influences over the car driver chest loads in cases of same or different generation of cars involved in side car crashes. Both same and different cars generations were used for the study. Other goal of the paper was the study of in time loads conformity for diver's chests from both cars involved in crash. The paper's experimental results were obtained by support of DSD, Dr. Steffan Datentechnik GmbH - Linz, Austria. The described tests were performed in full test facility of DSD Linz, in “Easter 2015 PC-Crash Seminar”. In all crashes we obtaining results from both dummy placed in impacted and hits car. The novelty of the paper are the comparisons of data set from each of driver (dummy) of two cars involved in each of six experimental crashes. Another novelty of this paper consists in possibilities to analyse the influences of structural historical cars solutions over deformation and loads in cases of traffic accidents involved. Paper's conclusions can be future used for car passive safety improvement.

The transcriptome of the medullary area postrema: the thirsty rat, the hungry rat and the hypertensive rat.

PubMed

Hindmarch, Charles C T; Fry, Mark; Smith, Pauline M; Yao, Song T; Hazell, Georgina G J; Lolait, Stephen J; Paton, Julian F R; Ferguson, Alastair V; Murphy, David

2011-05-01

The area postrema (AP) is a sensory circumventricular organ characterized by extensive fenestrated vasculature and neurons which are capable of detecting circulating signals of osmotic, cardiovascular, immune and metabolic status. The AP can communicate these messages via efferent projections to brainstem and hypothalamic structures that are able to orchestrate an appropriate response. We have used microarrays to profile the transcriptome of the AP in the Sprague-Dawley (SD) and Wistar-Kyoto rat and present here a comprehensive catalogue of gene expression, focusing specifically on the population of ion channels, receptors and G protein-coupled receptors expressed in this sensory tissue; of the G protein-coupled receptors expressed in the rat AP, we identified ∼36% that are orphans, having no established ligand. We have also looked at the ways in which the AP transcriptome responds to the physiological stressors of 72 h dehydration (DSD) and 48 h fasting (FSD) and have performed microarrays in these conditions. Comparison between the DSD and SD or between FSD and SD revealed only a modest number of AP genes that are regulated by these homeostatic challenges. The expression levels of a much larger number of genes are altered in the spontaneously hypertensive rat AP compared with the normotensive Wistar-Kyoto control rat, however. Finally, analysis of these 'hypertension-related' elements revealed genes that are involved in the regulation of both blood pressure and immune function and as such are excellent targets for further study.

Evaluation of a diffusive sampler for measurement of carbonyl compounds in air

NASA Astrophysics Data System (ADS)

Uchiyama, Shigehisa; Aoyagi, Shohei; Ando, Masanori

A diffusive sampling device (DSD-DNPH) has been developed for collection of ppb levels of 21 carbonyl compounds in indoor air. It is comprised of silica gel coated with 2,4-dinitrophenylhydrazine (DNPH) as the absorbent, a porous sintered polyethylene tube (PSP-diffusion filter) which acts as a diffusive membrane, and a small polypropylene syringe (PP-reservoir) which is used for the elution of the analytes from the absorbent. As the diffusive membrane comprises the entire cylindrical surface of the tube, it allows 'radial' exposure from all sides. A side-by-side comparison was made with active samplers, demonstrating good correlation (formaldehyde r2=0.992). The sampling rate (71.9 ml min -1) of formaldehyde was determined from comparison with an active sampling method and the sampling rates of other carbonyl compounds were calculated from their diffusion coefficients. These calculated sampling rates agreed with the experimental values. Little influence of wind velocity on the sampler was observed. The relative standard deviations for formaldehyde and acetaldehyde concentrations were 5.5% and 8.6%, respectively, with face velocity from 0 to 5.0 m/s. The DSD-DNPH enables the estimation of time-weighted average concentration of carbonyl compounds. Concentrations of formaldehyde estimated by the 7-day sampling method were nearly equal to the mean value calculated from the 24-hour sampling method measured over 7 days. This confirmed that the concentration of formaldehyde could be precisely monitored by 7-day continuous sampling.

Islamic bioethical deliberation on the issue of newborns with disorders of sex development.

PubMed

Mohamed, Mohd Salim; Noor, Siti Nurani Mohd

2015-04-01

This article presents the Islamic bioethical deliberation on the issue of sex assignment surgery (SAS) for infants with disorders of sex development (DSD) or intersexed as a case study. The main objective of this study is to present a different approach in assessing a biomedical issue within the medium of the Maqasid al-Shari'ah. Within the framework of the maqasidic scheme of benefits and harms, any practice where benefits are substantial is considered permissible, while those promoting harms are prohibited. The concept of Maqasid al-Shari'ah which is the mechanistic interpretation of Qur'an and Hadith presents the holistic attention of Islam on many life activities, including healthcare. Indeed, this concept encompasses many aspects of worldly life, both for the human individual and collectively for the whole society. In healthcare, the practice of SAS on DSD newborns has presented an assortment of implications on the future livelihood of the affected individual. The process of decision-making seems to be very multifaceted since every element such as the determination of the 'correct' sex and the urgency of early surgery must consider the benefits and harms, as well as the child's rights and best interest. The application of the concept of Maqasid al-Shari'ah, would convey a pragmatic approach that is often disregarded in Western medicine. This approach considers the right of the individual to live life optimally, individually and socially and practice his faith, precisely, in accordance with the assigned gender.

On the wind-induced undercatch in rainfall measurement using CFD-based simulations

NASA Astrophysics Data System (ADS)

Colli, Matteo; Lanza, Luca

2016-04-01

The reliability of liquid atmospheric precipitation measurements is a basic requirement since rainfall data represent the fundamental input variables of many scientific applications (hydrologic models, weather forecasting data assimilation, climate change studies, calibration of weather radar, etc.). The scientific community and the National Meteorological Services worldwide are facing the issue of improving the accuracy of precipitation measurements, with an increased focus on retrieving the information at a high temporal resolution. The rainfall intensity is indeed fundamental information for the precise quantification of the markedly time-varying behavior of precipitation events. Environmental conditions have a relevant impact on the rain collection/sensing efficiency. Among other effects, wind is recognized as a major source of underestimation since it reduces the collection efficiency of the catching-type gauges (Nespor and Sevruk, 1999), the most common type of instruments used worldwide in the national observation networks. The collection efficiency is usually obtained by comparing the rainfall amounts measured by the gauge with the reference, which was defined by EN-13798 standard (CEN, 2002) as a gauge placed below the ground level inside a pit. A lot of scatter can be observed for a given wind speed, which is mainly caused by comparability issues among the tested gauges. An additional source of uncertainty is the drops size distribution (DSD) of the rain, which varies on an event-by-event basis. The goal of this study is to understand the role of the physical characteristics of precipitation particles on the wind-induced rainfall underestimation observed for catching-type gauges. To address this issue, a detailed analysis of the flow field in the vicinity of the gauge is conducted using time-averaged computational fluid dynamics (CFD) simulations (Colli et al., 2015). Using a Lagrangian model, which accounts for the hydrodynamic behavior of liquid particles in the atmosphere, droplets trajectories are calculated to obtain the collection efficiency associated with different drop size distribution and varying the wind speed. The main benefit of investigating this error by means of CFD simulations is the possibility to single out the prevailing environmental factors from the instrumental performance of the gauges under analysis. The preliminary analysis shows the variations in the catch efficiency due to the horizontal wind speeds and the DSD. Overall, this study contributes to a better understanding of the environmental sources of uncertainty in rainfall measurements. References: Colli, M., R. Rasmussen, J. M. Theriault, L. G. Lanza, C. B. Baker & J. Kochendorfer (2015) An Improved Trajectory Model to Evaluate the Collection Performance of Snow Gauges. Journal of Applied Meteorology and Climatology, 54, 1826-1836 Nespor, V. and Sevruk, B. (1999). Estimation of wind-induced error of rainfall gauge measurements using a numerical simulation. J. Atmos. Ocean. Tech, 16(4), 450-464. CEN (2002). EN 13798:2002 Hydrometry - Specification for a reference raingauge pit. European Committee for Standardization.

System engineering approach to GPM retrieval algorithms

DOE Office of Scientific and Technical Information (OSTI.GOV)

Rose, C. R.; Chandrasekar, V.

2004-01-01

System engineering principles and methods are very useful in large-scale complex systems for developing the engineering requirements from end-user needs. Integrating research into system engineering is a challenging task. The proposed Global Precipitation Mission (GPM) satellite will use a dual-wavelength precipitation radar to measure and map global precipitation with unprecedented accuracy, resolution and areal coverage. The satellite vehicle, precipitation radars, retrieval algorithms, and ground validation (GV) functions are all critical subsystems of the overall GPM system and each contributes to the success of the mission. Errors in the radar measurements and models can adversely affect the retrieved output values. Groundmore » validation (GV) systems are intended to provide timely feedback to the satellite and retrieval algorithms based on measured data. These GV sites will consist of radars and DSD measurement systems and also have intrinsic constraints. One of the retrieval algorithms being studied for use with GPM is the dual-wavelength DSD algorithm that does not use the surface reference technique (SRT). The underlying microphysics of precipitation structures and drop-size distributions (DSDs) dictate the types of models and retrieval algorithms that can be used to estimate precipitation. Many types of dual-wavelength algorithms have been studied. Meneghini (2002) analyzed the performance of single-pass dual-wavelength surface-reference-technique (SRT) based algorithms. Mardiana (2003) demonstrated that a dual-wavelength retrieval algorithm could be successfully used without the use of the SRT. It uses an iterative approach based on measured reflectivities at both wavelengths and complex microphysical models to estimate both No and Do at each range bin. More recently, Liao (2004) proposed a solution to the Do ambiguity problem in rain within the dual-wavelength algorithm and showed a possible melting layer model based on stratified spheres. With the No and Do calculated at each bin, the rain rate can then be calculated based on a suitable rain-rate model. This paper develops a system engineering interface to the retrieval algorithms while remaining cognizant of system engineering issues so that it can be used to bridge the divide between algorithm physics an d overall mission requirements. Additionally, in line with the systems approach, a methodology is developed such that the measurement requirements pass through the retrieval model and other subsystems and manifest themselves as measurement and other system constraints. A systems model has been developed for the retrieval algorithm that can be evaluated through system-analysis tools such as MATLAB/Simulink.« less

Painful ovulation in a 46,XX SRY −ve adult male with SOX9 duplication

PubMed Central

Kean, Anne-Maree; Ewans, Lisa; Ohnesorg, Thomas; Ayers, Katie L; Watson, Geoff; Vasilaras, Arthur; Sinclair, Andrew H; Twigg, Stephen M; Handelsman, David J

2017-01-01

46,XX disorders of sexual development (DSDs) occur rarely and result from disruptions of the genetic pathways underlying gonadal development and differentiation. We present a case of a young phenotypic male with 46,XX SRY-negative ovotesticular DSD resulting from a duplication upstream of SOX9 presenting with a painful testicular mass resulting from ovulation into an ovotestis. We present a literature review of ovulation in phenotypic men and discuss the role of SRY and SOX9 in testicular development, including the role of SOX9 upstream enhancer region duplication in female-to-male sex reversal. Learning points: In mammals, the early gonad is bipotent and can differentiate into either a testis or an ovary. SRY is the master switch in testis determination, responsible for differentiation of the bipotent gonad into testis. SRY activates SOX9 gene, SOX9 as a transcription factor is the second major gene involved in male sex determination. SOX9 drives the proliferation of Sertoli cells and activates AMH/MIS repressing the ovary. SOX9 is sufficient to induce testis formation and can substitute for SRY function. Assessing karyotype and then determination of the presence or absence of Mullerian structures are necessary serial investigations in any case of DSD, except for mixed gonadal dysgenesis identified by karyotype alone. Treatment is ideal in a multidisciplinary setting with considerations to genetic (implications to family and reproductive recurrence risk), psychological aspects (sensitive individualized counseling including patient gender identity and preference), endocrinological (hormone replacement), surgical (cosmetic, prophylactic gonadectomy) fertility preservation and reproductive opportunities and metabolic health (cardiovascular and bones). PMID:28620497

A case report of an incidental finding of a 46,XX, SRY-negative male with masculine phenotype during standard fertility workup with review of the literature and proposed immediate and long-term management guidance.

PubMed

Ryan, Neil A J; Akbar, Shahnaz

2013-04-01

To describe and explore the current literature on the rare genetic condition of 46,XX SRY-negative males. In addition, we propose comprehensive clinical guidelines in the management of this condition to aid fertility clinicians in their management of affected individuals. Case report with expert consensus-derived clinical management guidance. Fertility outpatient clinic at a tertiary referral center. A 40-year-old male found to have 46,XX disorder of sex development (DSD) on routine fertility screening. A review of the literature, expert consultation, and formulation of comprehensive clinical guidance. We report an interesting and rare case of a phenotypical male with the karyotype 46,XX DSD without an SRY region. There is limited literature exploring this condition, and its etiology remains poorly understood. There is currently no clinical guidance available for fertility clinicians to follow when treating this condition. A male phenotype with a 46 karyotype without the sex-defining region of the Y chromosome. A multidisciplinary approach should be adopted in the management of 46,XX individuals. All patients with azoospermia must be karyotyped. Sperm donation remains the only fertility treatment available. The 46,XX patients need lifelong followup led by an endocrinologist with regular imaging of the gonads, bone density measurements, baseline blood tests, and T supplementation. Psychological support is a key part of a holistic approach. Copyright © 2013 American Society for Reproductive Medicine. Published by Elsevier Inc. All rights reserved.

Painful ovulation in a 46,XX SRY -ve adult male with SOX9 duplication.

PubMed

Shankara Narayana, Nandini; Kean, Anne-Maree; Ewans, Lisa; Ohnesorg, Thomas; Ayers, Katie L; Watson, Geoff; Vasilaras, Arthur; Sinclair, Andrew H; Twigg, Stephen M; Handelsman, David J

2017-01-01

46,XX disorders of sexual development (DSDs) occur rarely and result from disruptions of the genetic pathways underlying gonadal development and differentiation. We present a case of a young phenotypic male with 46,XX SRY-negative ovotesticular DSD resulting from a duplication upstream of SOX9 presenting with a painful testicular mass resulting from ovulation into an ovotestis. We present a literature review of ovulation in phenotypic men and discuss the role of SRY and SOX9 in testicular development, including the role of SOX9 upstream enhancer region duplication in female-to-male sex reversal. In mammals, the early gonad is bipotent and can differentiate into either a testis or an ovary. SRY is the master switch in testis determination, responsible for differentiation of the bipotent gonad into testis.SRY activates SOX9 gene, SOX9 as a transcription factor is the second major gene involved in male sex determination. SOX9 drives the proliferation of Sertoli cells and activates AMH/MIS repressing the ovary. SOX9 is sufficient to induce testis formation and can substitute for SRY function.Assessing karyotype and then determination of the presence or absence of Mullerian structures are necessary serial investigations in any case of DSD, except for mixed gonadal dysgenesis identified by karyotype alone.Treatment is ideal in a multidisciplinary setting with considerations to genetic (implications to family and reproductive recurrence risk), psychological aspects (sensitive individualized counseling including patient gender identity and preference), endocrinological (hormone replacement), surgical (cosmetic, prophylactic gonadectomy) fertility preservation and reproductive opportunities and metabolic health (cardiovascular and bones).

An Intron 9 CYP19 Gene Variant (IVS9+5G>A), Present in an Aromatase-Deficient Girl, Affects Normal Splicing and Is Also Present in Normal Human Steroidogenic Tissues.

PubMed

Saraco, Nora; Nesi-Franca, Suzana; Sainz, Romina; Marino, Roxana; Marques-Pereira, Rosana; La Pastina, Julia; Perez Garrido, Natalia; Sandrini, Romolo; Rivarola, Marco Aurelio; de Lacerda, Luiz; Belgorosky, Alicia

2015-01-01

Splicing CYP19 gene variants causing aromatase deficiency in 46,XX disorder of sexual development (DSD) patients have been reported in a few cases. A misbalance between normal and aberrant splicing variants was proposed to explain spontaneous pubertal breast development but an incomplete sex maturation progress. The aim of this study was to functionally characterize a novel CYP19A1 intronic homozygote mutation (IVS9+5G>A) in a 46,XX DSD girl presenting spontaneous breast development and primary amenorrhea, and to evaluate similar splicing variant expression in normal steroidogenic tissues. Genomic DNA analysis, splicing prediction programs, splicing assays, and in vitro protein expression and enzyme activity analyses were carried out. CYP19A1 mRNA expression in human steroidogenic tissues was also studied. A novel IVS9+5G>A homozygote mutation was found. In silico analysis predicts the disappearance of the splicing donor site in intron 9, confirmed by patient peripheral leukocyte cP450arom and in vitro studies. Protein analysis showed a shorter and inactive protein. The intron 9 transcript variant was also found in human steroidogenic tissues. The mutation IVS9+5G>A generates a splicing variant that includes intron 9 which is also present in normal human steroidogenic tissues, suggesting that a misbalance between normal and aberrant splicing variants might occur in target tissues, explaining the clinical phenotype in the affected patient. © 2015 S. Karger AG, Basel.

The Islamic Perspectives of Gender-Related Issues in the Management of Patients With Disorders of Sex Development.

PubMed

Zainuddin, Ani Amelia; Mahdy, Zaleha Abdullah

2017-02-01

In Islam, the person with somatic sex ambiguity due to a disorder of sex development (DSD), such as 46,XX congenital adrenal hyperplasia or 46,XY androgen insensitivity, is recognized as khunsa. Two types of khunsa are distinguished: wadhih (discernible) and musykil (intractable). A recent fatwa (religious edict) in Malaysia decreed that it is permissible for male-assigned patients from these two groups to have gender reassignment surgery to female following diagnosis; however, the religious authority has yet to rule on the reassignment from female to male, if requested. The different schools of law in Islam agree on some aspects of gender-related issues like the position of khunsa in prayer congregations, but differ in their opinions on others such as property inheritance and bathing rituals. For purposes of illustration, this article includes three case reports on Muslim patients with DSD in Malaysia, focusing on issues of gender assignment: (1) a patient with 46,XX CAH, assigned as female, requesting reassignment to male; (2) a patient with 46,XX CAH, assigned female, and gender dysphoric, but undecided on the gender to be; and (3) a patient with 46,XY complete gonadal dysgenesis, raised female due to her phenotype at birth, diagnosed late, at age 18 years, and content to remain female. Gender-related issues from the perspective of Islamic jurisprudence are highlighted and discussed. To ensure holistic care, health-service providers involved in the care of Muslim patients with DSDs need to be aware of the Islamic perspectives on gender-related issues and involve expert religious authorities.

Bridging the condensation-collision size gap: a direct numerical simulation of continuous droplet growth in turbulent clouds

NASA Astrophysics Data System (ADS)

Chen, Sisi; Yau, Man-Kong; Bartello, Peter; Xue, Lulin

2018-05-01

In most previous direct numerical simulation (DNS) studies on droplet growth in turbulence, condensational growth and collisional growth were treated separately. Studies in recent decades have postulated that small-scale turbulence may accelerate droplet collisions when droplets are still small when condensational growth is effective. This implies that both processes should be considered simultaneously to unveil the full history of droplet growth and rain formation. This paper introduces the first direct numerical simulation approach to explicitly study the continuous droplet growth by condensation and collisions inside an adiabatic ascending cloud parcel. Results from the condensation-only, collision-only, and condensation-collision experiments are compared to examine the contribution to the broadening of droplet size distribution (DSD) by the individual process and by the combined processes. Simulations of different turbulent intensities are conducted to investigate the impact of turbulence on each process and on the condensation-induced collisions. The results show that the condensational process promotes the collisions in a turbulent environment and reduces the collisions when in still air, indicating a positive impact of condensation on turbulent collisions. This work suggests the necessity of including both processes simultaneously when studying droplet-turbulence interaction to quantify the turbulence effect on the evolution of cloud droplet spectrum and rain formation.

The application of pulse field gradient (PFG) NMR methods to characterize the efficiency of separation of water-in-crude oil emulsions.

PubMed

Marques, Debora Salomon; Sørland, Geir; Less, Simone; Vilagines, Regis

2018-02-15

Demulsification of water-in-crude oil emulsions is an essential and sometimes challenging procedure for crude oil processing facilities. Pulse field gradient (PFG) NMR techniques are known to monitor the dynamics of emulsion separation. This method has limitations that restrict its application to some crude oils. A comprehensive methodology applicable to all types of crude oil regardless of its viscosity, without assumptions, and providing a large number of data with fast measurements, is proposed in this paper. The coalescence and sedimentation of unstable emulsions was observed through simultaneous measurements of the evolution of the brine profile and droplet size distribution (DSD). Measurements of emulsions after stabilization, with and without the contribution of the free water layer, revealed the residual emulsified water quantity and location in the sample. A new, faster approach to separate the oil and water overlapping T 2 relaxation signals was demonstrated on real water-in-crude oil emulsions, using the root mean square displacement (RMSD) measured with the spoiler recovery and a loop of 13-interval pulsed field gradient stimulated echo (PFGSTE) oneshot sequences. The residual water within the crude oils after separation was determined and used to quantify the efficiency of the demulsifier used. Copyright © 2017 Elsevier Inc. All rights reserved.

A Comparison between the Decimated Padé Approximant and Decimated Signal Diagonalization Methods for Leak Detection in Pipelines Equipped with Pressure Sensors.

PubMed

Lay-Ekuakille, Aimé; Fabbiano, Laura; Vacca, Gaetano; Kitoko, Joël Kidiamboko; Kulapa, Patrice Bibala; Telesca, Vito

2018-06-04

Pipelines conveying fluids are considered strategic infrastructures to be protected and maintained. They generally serve for transportation of important fluids such as drinkable water, waste water, oil, gas, chemicals, etc. Monitoring and continuous testing, especially on-line, are necessary to assess the condition of pipelines. The paper presents findings related to a comparison between two spectral response algorithms based on the decimated signal diagonalization (DSD) and decimated Padé approximant (DPA) techniques that allow to one to process signals delivered by pressure sensors mounted on an experimental pipeline.

Retrievals of Cloud Droplet Size from the RSP Data: Validation Using in Situ Measurements

NASA Technical Reports Server (NTRS)

Alexandrov, Mikhail D.; Cairns, Brian; Sinclair, Kenneth; Wasilewski, Andrzej P.; Ziemba, Luke; Crosbie, Ewan; Hair, John; Hu, Yongxiang; Hostetler, Chris; Stamnes, Snorre

2016-01-01

We present comparisons of cloud droplet size distributions retrieved from the Research Scanning Polarimeter (RSP) data with correlative in situ measurements made during the North Atlantic Aerosols and Marine Ecosystems Study (NAAMES). This field experiment was based at St. Johns airport, Newfoundland, Canada with the latest deployment in May - June 2016. RSP was onboard the NASA C-130 aircraft together with an array of in situ and other remote sensing instrumentation. The RSP is an along-track scanner measuring polarized and total reflectances in9 spectral channels. Its unique high angular resolution allows for characterization of liquid water droplet size using the rainbow structure observed in the polarized reflectances in the scattering angle range between 135 and 165 degrees. A parametric fitting algorithm applied to the polarized reflectances provides retrievals of the droplet effective radius and variance assuming a prescribed size distribution shape (gamma distribution). In addition to this, we use a non-parametric method, Rainbow Fourier Transform (RFT), which allows us to retrieve the droplet size distribution (DSD) itself. The latter is important in the case of clouds with complex structure, which results in multi-modal DSDs. During NAAMES the aircraft performed a number of flight patterns specifically designed for comparison of remote sensing retrievals and in situ measurements. These patterns consisted of two flight segments above the same straight ground track. One of these segments was flown above clouds allowing for remote sensing measurements, while the other was at the cloud top where cloud droplets were sampled. We compare the DSDs retrieved from the RSP data with in situ measurements made by the Cloud Droplet Probe (CDP). The comparisons show generally good agreement with deviations explainable by the position of the aircraft within cloud and by presence of additional cloud layers in RSP view that do not contribute to the in situ DSDs. In the latter case the distributions retrieved from the RSP data were consistent with the multi-layer cloud structures observed in the correlative High Spectral Resolution Lidar (HSRL) profiles. The comparison results provide a rare validation of polarimetric droplet size retrieval techniques, which can be used for analysis of satellite data on global scale.

Gender Identity in Patients with Congenital Adrenal Hyperplasia.

PubMed

Razzaghy-Azar, Maryam; Karimi, Sakineh; Shirazi, Elham

2017-07-01

Sex assignment in infancy for patients with disorder of sex development (DSD) is a challenging problem. Some of the patients with congenital adrenal hyperplasia (CAH) have DSD that may affect their gender identity. The study aimed to assess gender identity in patients with CAH. In this study, 52 patients with CAH, including 22 prepubertal children and 30 adolescents and adults, were assessed using two separate gender identity questionnaires for children and adults based on the criteria of diagnostic and statistical manual of mental disorders, 5th edition. In the children group, compatibility was seen between gender identity and rearing gender. In the adult group, there were three cases of mismatching between gender identity and sex assignment composed of two females with poor control and one male with good control with 21-hydroxylase deficiency (21-OHD). Three girls with 11-hydroxylase deficiency (11-OHD) were reared as boy. Two of them with late diagnosis at 5 and 6 years of age had pseudoprecocious puberty. Parents and children did not accept to change the gender. One of them is 36 years old now, is depressed and unsatisfied with her gender, another girl is still child and has male sexual identity. One girl with 11-OHD and early diagnosis at birth with Prader 5 virilization but with good hormonal control was changed to female gender at 12 years of age when female sexual characteristics appeared; she is 34-years-old now, married, and with two children, and she is satisfied with her gender. In patients with CAH, gender identity disorder is a rare finding. Hormonal control, social, familial, and religious beliefs have impacts on gender identity of these patients.

Gender Identity in Patients with Congenital Adrenal Hyperplasia

PubMed Central

Razzaghy-Azar, Maryam; Karimi, Sakineh; Shirazi, Elham

2017-01-01

Background Sex assignment in infancy for patients with disorder of sex development (DSD) is a challenging problem. Some of the patients with congenital adrenal hyperplasia (CAH) have DSD that may affect their gender identity. Objectives The study aimed to assess gender identity in patients with CAH. Methods In this study, 52 patients with CAH, including 22 prepubertal children and 30 adolescents and adults, were assessed using two separate gender identity questionnaires for children and adults based on the criteria of diagnostic and statistical manual of mental disorders, 5th edition. Results In the children group, compatibility was seen between gender identity and rearing gender. In the adult group, there were three cases of mismatching between gender identity and sex assignment composed of two females with poor control and one male with good control with 21-hydroxylase deficiency (21-OHD). Three girls with 11-hydroxylase deficiency (11-OHD) were reared as boy. Two of them with late diagnosis at 5 and 6 years of age had pseudoprecocious puberty. Parents and children did not accept to change the gender. One of them is 36 years old now, is depressed and unsatisfied with her gender, another girl is still child and has male sexual identity. One girl with 11-OHD and early diagnosis at birth with Prader 5 virilization but with good hormonal control was changed to female gender at 12 years of age when female sexual characteristics appeared; she is 34-years-old now, married, and with two children, and she is satisfied with her gender. Conclusions In patients with CAH, gender identity disorder is a rare finding. Hormonal control, social, familial, and religious beliefs have impacts on gender identity of these patients. PMID:29201068

Gender role across development in adults with 46,XY disorders of sex development including perineoscrotal hypospadias and small phallus raised male or female.

PubMed

Pappas, Kara B; Wisniewski, Amy B; Migeon, Claude J

2008-07-01

Self-rated degree of femininity and masculinity across development were evaluated for 40 adults affected by 46,XY disorders of sex development (DSDs) who presented at birth with a small phallus and perineoscrotal hypospadias, raised either male (n = 22) or female (n = 18). Most participants were confirmed or presumed to be affected by partial androgen insensitivity syndrome (n = 14), partial gonadal dysgenesis (n = 11), or were considered to have a poorly defined case of 46,XY DSD including ambiguous external genitalia (n = 15). Participants retrospectively evaluated their degree of masculinity and femininity during their childhood, adolescence, adulthood, and in the past 12 months of filling out a questionnaire pertaining to their psychosexual development. Participants raised male reported more masculinity than those raised female due to an increase in masculinization during adolescence and adulthood. Participants raised male also reported less femininity than those raised female throughout development. Participants raised female reported more femininity than those raised male due to an increase in feminization during adolescence and adulthood. Participants raised female also reported less masculinity than those raised male throughout development. These data support the proposition that some aspects of gender role (GR), such as masculinity and femininity, are capable of proceeding along female- or male-typic patterns depending on sex of rearing among individuals affected by specific types of 46,XY DSD. Furthermore, regardless of male or female rearing, GR increasingly corresponds with assigned sex as individuals proceed through sexual maturity and into adulthood. These results are consistent with the idea that socialization/learning contributes to GR development in humans in addition to data from others demonstrating endocrine influences.

Enhancing Lifestyle Change in Cardiac Patients Through the Do CHANGE System (“Do Cardiac Health: Advanced New Generation Ecosystem”): Randomized Controlled Trial Protocol

PubMed Central

Broers, Eva; Piera-Jimenez, Jordi; Wetzels, Mart; Ayoola, Idowu; Denollet, Johan; Widdershoven, Jos

2018-01-01

Background Promoting a healthy lifestyle (eg, physical activity, healthy diet) is crucial for the primary and secondary prevention of cardiac disease in order to decrease disease burden and mortality. Objective The current trial aims to evaluate the effectiveness of the Do Cardiac Health: Advanced New Generation Ecosystem (Do CHANGE) service, which is developed to assist cardiac patients in adopting a healthy lifestyle and improving their quality of life. Methods Cardiac patients (ie, people who have been diagnosed with heart failure, coronary artery disease, and/or hypertension) will be recruited at three pilot sites (Badalona Serveis Assistencials, Badalona, Spain [N=75]; Buddhist Tzu Chi Dalin General Hospital, Dalin, Taiwan [N=100] and Elisabeth-TweeSteden Hospital, Tilburg, The Netherlands [N=75]). Patients will be assisted by the Do Something Different (DSD) program to change their unhealthy habits and/or lifestyle. DSD has been developed to increase behavioral flexibility and subsequently adopt new (healthier) habits. In addition, patients’ progress will be monitored with a number of (newly developed) devices (eg, Fitbit, Beddit, COOKiT, FLUiT), which will be integrated in one application. Results The Do CHANGE trial will provide us with new insights regarding the effectiveness of the proposed intervention in different cultural settings. In addition, it will give insight into what works for whom and why. Conclusions The Do CHANGE service integrates new technologies into a behavior change intervention in order to change the unhealthy lifestyles of cardiac patients. The program is expected to facilitate long-term, sustainable behavioral change. Trial Registration Clinicaltrials.gov NCT03178305; https://clinicaltrials.gov/ct2/show/NCT03178305 (Archived by WebCite at http://www.webcitation.org/6wfWHvuyU). PMID:29422454

A simple all-time model for the birth, big bang, and death of the universe

NASA Astrophysics Data System (ADS)

Fischer, Arthur E.

We model the standard ΛCDM model of the universe by the spatially flat FLRW line element dsΛCDM2 = -c2dt2 + 8πGρm,0 Λc22/3 sinh 1 23Λct4/3dσ Euclid2 which we extend for all time t ∈ (-∞,∞). Although there is a cosmological singularity at the big bang t = 0, since the spatial part of the metric collapses to zero, nevertheless, this line element is defined for all time t ∈ (-∞,∞), is C∞ for all t≠0, is C1 differentiable at t = 0, and is non-degenerate and solves Friedmann’s equation for all t≠0. Thus, we can use this extended line element to model the universe from its past-asymptotic initial state dS4- at t = -∞, through the big bang at t = 0, and onward to its future-asymptotic final state dS4+ at t = ∞. Since in this model the universe existed before the big bang, we conclude that (1) the universe was not created de novo at the big bang and (2) cosmological singularities such as black holes or the big bang itself need not be an end to spacetime. Our model shows that the universe was asymptotically created de novo out of nothing at t = -∞ from an unstable vacuum negative half de Sitter dsdS4-2 initial state and then dies asymptotically at t = ∞ as the stable positive half de Sitter dsdS4+2 final state. Since the de Sitter states are vacuum matter states, our model shows that the universe was created from nothing at t = -∞ and dies at t = ∞ to nothing.

Disorders of sex development (DSDs), their presentation and management in different cultures.

PubMed

Warne, Garry L; Raza, Jamal

2008-09-01

The way disorders of sex development (DSD) are viewed and managed in different cultures varies widely. They are complex conditions and even well-educated lay people find them difficult to understand, but when families are very poor and lacking in basic education, and the health system is starved of resources, traditional beliefs, folk remedies and prejudice combine to make the lives of children and adults with DSD extremely difficult and sad. Rumour and discrimination isolate them from their communities and they become devalued. People with DSDs desire the same things in life as everyone else-to find someone who will love them, to be valued as human beings, to feel at home in their own bodies, to be able to have satisfactory sexual relations should these be desired, to be able to trust their medical advisers and to be integrated into the general community. Long term outcome studies have been published from many countries, but these studies have not necessarily been critical of the values that underpinned the type of treatment given to the patients. There is a need for standardized instruments that would allow a true comparison of the quality of outcomes from the patients' perspective. Much could be done to improve equity between rich and poor countries for the benefit of people with DSDs. A focus on developing cheap, robust diagnostic tests, making essential medicines available for all, training surgeons to do better operations, educating health professionals, families and the general community in order to break down prejudice against people with DSDs, and training mental health workers in this specialized field, would do much to alleviate the burden of the condition.

A cloud-evaporation parameterization for general ciculation models

DOE Office of Scientific and Technical Information (OSTI.GOV)

Schlesinger, M.E.; Oh, J.H.

1993-04-01

An evaporation-zone (EZ) model for cloud evaporation is developed. In this model a cloud consists of I [open quotes]cloudlets,[close quotes] each comprising cloud droplets with radii from zero to r[sub max], the latter value depending on the drop size distribution (DSD). Evaporation occurs only within the EZ comprised of J[le]I cloudlets. When the cloudlet at cloud edge evaporates, the EZ progresses one cloudlet into the cloud's interior. This eventually results in evaporation of the cloud in time t[sub E] = K(H/h)r[sup 2][sub max](1[minus]S[sub e])[sup [minus]1] where H is the cloud thickness, h the EZ thickness, S[sub e] the environmental saturationmore » ratio, and K a constant. Values of t[sub E](1[minus]S[sub e]) versus h are presented for eight observed DSDs. For use in atmospheric general circulation models (GCMs), the cloud evaporation process is represented by dm/dt=[minus](1[minus]S[sub e])m/[tau], where m is the cloud-water mixing ratio and [tau]=K(H/h)r[sup 2][sub max]n[sup [minus]1]. With parameter n chosen sufficiently large, a GCM cloud will evaporate virtually entirely in time t[sub E], for example, 99.3% for n = 5. Values of [tau] for use in the multilayer atmospheric CRCM have been determined by performing ten perpetual-January simulations and ten perpetual-July simulations, each set of ten for prescribed pairs of [tau] values for stratiform ([tau][sub s]) and cumuloform ([tau][sub c]) clouds. An optimum choice of [tau][sub s] and [tau][sub c], based on minimizing the errors of the model's simulated cloudiness, planetary albedo, outgoing longwave radiation, and precipitation, is [tau][sub s]=[tau][sub c] = 3 min. This corresponds to t[sub E](1-S[sub e]) = 15 min for both stratiform and cumuloform clouds; hence, to an EZ thickness of about 0.6-0.8 m for stratus, stratocumulus, and altostratus clouds, 2-3 m for nimbostratus and cumulus clouds, and 17 m for cumulonimbus clouds. 18 refs., 6 figs.« less

Formulation characteristics and in vitro release testing of cyclosporine ophthalmic ointments.

PubMed

Dong, Yixuan; Qu, Haiou; Pavurala, Naresh; Wang, Jiang; Sekar, Vasanthakumar; Martinez, Marilyn N; Fahmy, Raafat; Ashraf, Muhammad; Cruz, Celia N; Xu, Xiaoming

2018-06-10

The aim of the present study was to investigate the relationship between formulation/process variables versus the critical quality attributes (CQAs) of cyclosporine ophthalmic ointments and to explore the feasibility of using an in vitro approach to assess product sameness. A definitive screening design (DSD) was used to evaluate the impact of formulation and process variables. The formulation variables included drug percentage, percentage of corn oil and lanolin alcohol. The process variables studied were mixing temperature, mixing time and the method of mixing. The quality and performance attributes examined included drug assay, content uniformity, image analysis, rheology (storage modulus, shear viscosity) and in vitro drug release. Of the formulation variables evaluated, the percentage of the drug substance and the percentage of corn oil in the matrix were the most influential factors with respect to in vitro drug release. Conversely, the process parameters tested were observed to have minimal impact. An evaluation of the release mechanism of cyclosporine from the ointment revealed an interplay between formulation (e.g. physicochemical properties of the drug and ointment matrix type) and the release medium. These data provide a scientific basis to guide method development for in vitro drug release testing of ointment dosage forms. These results demonstrate that the in vitro methods used in this investigation were fit-for-purpose for detecting formulation and process changes and therefore amenable to assessment of product sameness. Published by Elsevier B.V.

Characterization of Titan III-D Acoustic Pressure Spectra by Least-Squares Fit to Theoretical Model

DTIC Science & Technology

1980-01-01

P(f) for a set value of P0 and f0" Mhe inverse transform was taken and the result multiplied by a decaying exponential which modelled the envelope of...0 FORWARD TRANSFORM C IF=1 INVERSE TRANSFORM c C M 0 XREAL AND XIMAG RETURNED AS REAL AND IMAG. FOR FORWARD Xr"RM9; C M= " " " MAGNITUDE AND PHASE...34 .. .. C (PHASE IN DEGREE9) C M=2 XREAL RETURNED AS ’PSD’ XIMAG =0. C HERE ’DSD’ MEANS SUM OF N VALUES OF XREAL = MEAN SQU\\Riz OF INPUT C C FOR INVERSE

Study of pH Stability of R-Salbutamol Sulfate Aerosol Solution and Its Antiasthmatic Effects in Guinea Pigs.

PubMed

Liu, Qing; Li, Qingrui; Han, Ting; Hu, Tingting; Zhang, Xuemei; Hu, Junhua; Hu, Hui; Tan, Wen

2017-09-01

Currently, all commercial available nebulized salbutamol in China is in its racemic form. It is known that only R-salbutamol (eutomer) has therapeutic effects, while S-salbutamol (distomer) may exacerbate asthma after chronic use. Therefore, it is an unmet clinical need to develop R-salbutamol as a nebulized product that is more convenient for young and old patients. In our study, a stable aerosol solution of R-salbutamol sulfate was established, and its antiasthmatic effects were confirmed. The decomposition rate and racemization effect of the R-salbutamol sulfate solution were evaluated over a pH range from 1 to 10 (except pH=7, 8) at 60°C. The aerodynamic particle size of the R-salbutamol sulfate solution and commercial RS-salbutamol sulfate solution were both tested in vitro by Next-Generation Impactor (NGI) in 5°C. Laser diffractometer was used to characterize the droplet-size distribution (DSD) of both solutions. We next conducted an in vivo animal study to document the antiasthmatic effect of R-salbutamol aerosol sulfate solution and determine the relationship to RS-salbutamol. The results showed that the R-salbutamol sulfate solution was more stable at pH 6. In vitro comparison studies indicated that there was no distribution difference between R-salbutamol sulfate solution and the commercial RS-salbutamol solution. The animal results showed that R-salbutamol was more potent than RS-salbutamol against the same dose of histamine challenge. Unlike commercial RS-salbutamol, which was acidified to a pH of 3.5 to extend bench life but may cause bronchoconstriction in asthmatic patients, the neutralized R-salbutamol solution was more suitable for clinic use.

Some properties of a 5-parameter bivariate probability distribution

NASA Technical Reports Server (NTRS)

Tubbs, J. D.; Brewer, D. W.; Smith, O. E.

1983-01-01

A five-parameter bivariate gamma distribution having two shape parameters, two location parameters and a correlation parameter was developed. This more general bivariate gamma distribution reduces to the known four-parameter distribution. The five-parameter distribution gives a better fit to the gust data. The statistical properties of this general bivariate gamma distribution and a hypothesis test were investigated. Although these developments have come too late in the Shuttle program to be used directly as design criteria for ascent wind gust loads, the new wind gust model has helped to explain the wind profile conditions which cause large dynamic loads. Other potential applications of the newly developed five-parameter bivariate gamma distribution are in the areas of reliability theory, signal noise, and vibration mechanics.

Parameter estimation of multivariate multiple regression model using bayesian with non-informative Jeffreys’ prior distribution

NASA Astrophysics Data System (ADS)

Saputro, D. R. S.; Amalia, F.; Widyaningsih, P.; Affan, R. C.

2018-05-01

Bayesian method is a method that can be used to estimate the parameters of multivariate multiple regression model. Bayesian method has two distributions, there are prior and posterior distributions. Posterior distribution is influenced by the selection of prior distribution. Jeffreys’ prior distribution is a kind of Non-informative prior distribution. This prior is used when the information about parameter not available. Non-informative Jeffreys’ prior distribution is combined with the sample information resulting the posterior distribution. Posterior distribution is used to estimate the parameter. The purposes of this research is to estimate the parameters of multivariate regression model using Bayesian method with Non-informative Jeffreys’ prior distribution. Based on the results and discussion, parameter estimation of β and Σ which were obtained from expected value of random variable of marginal posterior distribution function. The marginal posterior distributions for β and Σ are multivariate normal and inverse Wishart. However, in calculation of the expected value involving integral of a function which difficult to determine the value. Therefore, approach is needed by generating of random samples according to the posterior distribution characteristics of each parameter using Markov chain Monte Carlo (MCMC) Gibbs sampling algorithm.

Derivation of WECC Distributed PV System Model Parameters from Quasi-Static Time-Series Distribution System Simulations

DOE Office of Scientific and Technical Information (OSTI.GOV)

Mather, Barry A; Boemer, Jens C.; Vittal, Eknath

The response of low voltage networks with high penetration of PV systems to transmission network faults will, in the future, determine the overall power system performance during certain hours of the year. The WECC distributed PV system model (PVD1) is designed to represent small-scale distribution-connected systems. Although default values are provided by WECC for the model parameters, tuning of those parameters seems to become important in order to accurately estimate the partial loss of distributed PV systems for bulk system studies. The objective of this paper is to describe a new methodology to determine the WECC distributed PV system (PVD1)more » model parameters and to derive parameter sets obtained for six distribution circuits of a Californian investor-owned utility with large amounts of distributed PV systems. The results indicate that the parameters for the partial loss of distributed PV systems may differ significantly from the default values provided by WECC.« less

On the problem of modeling for parameter identification in distributed structures

NASA Technical Reports Server (NTRS)

Norris, Mark A.; Meirovitch, Leonard

1988-01-01

Structures are often characterized by parameters, such as mass and stiffness, that are spatially distributed. Parameter identification of distributed structures is subject to many of the difficulties involved in the modeling problem, and the choice of the model can greatly affect the results of the parameter identification process. Analogously to control spillover in the control of distributed-parameter systems, identification spillover is shown to exist as well and its effect is to degrade the parameter estimates. Moreover, as in modeling by the Rayleigh-Ritz method, it is shown that, for a Rayleigh-Ritz type identification algorithm, an inclusion principle exists in the identification of distributed-parameter systems as well, so that the identified natural frequencies approach the actual natural frequencies monotonically from above.

Relationships Between Lower-Body Muscle Structure and Lower-Body Strength, Power, and Muscle-Tendon Complex Stiffness.

PubMed

Secomb, Josh L; Lundgren, Lina E; Farley, Oliver R L; Tran, Tai T; Nimphius, Sophia; Sheppard, Jeremy M

2015-08-01

The purpose of this study was to determine whether any relationships were present between lower-body muscle structure and strength and power qualities. Fifteen elite male surfing athletes performed a battery of lower-body strength and power tests, including countermovement jump (CMJ), squat jump (SJ), isometric midthigh pull (IMTP), and had their lower-body muscle structure assessed with ultrasonography. In addition, lower-body muscle-tendon complex (MTC) stiffness and dynamic strength deficit (DSD) ratio were calculated from the CMJ and IMTP. Significant relationships of large to very large strength were observed between the vastus lateralis (VL) thickness of the left (LVL) and right (RVL) leg and peak force (PF) (r = 0.54-0.77, p < 0.01-0.04), peak velocity (PV) (r = 0.66-0.83, p < 0.01), and peak jump height (r = 0.62-0.80, p < 0.01) in the CMJ and SJ, as well as IMTP PF (r = 0.53-0.60, p = 0.02-0.04). Furthermore, large relationships were found between left lateral gastrocnemius (LG) pennation angle and SJ and IMTP PF (r = 0.53, p = 0.04, and r = 0.70, p < 0.01, respectively) and between LG and IMTP relative PF (r = 0.63, p = 0.01). Additionally, large relationships were identified between lower-body MTC stiffness and DSD ratio (r = 0.68, p < 0.01), right (LG) pennation angle (r = 0.51, p = 0.05), CMJ PF (r = 0.60, p = 0.02), and jump height (r = 0.53, p = 0.04). These results indicate that greater VL thickness and increased LG pennation angle are related to improved performance in the CMJ, SJ, and IMTP. Furthermore, these results suggest that lower-body MTC stiffness explains a large amount of variance in determining an athlete's ability to rapidly apply force during a dynamic movement.

Coral diseases and bleaching on Colombian Caribbean coral reefs.

PubMed

Navas-Camacho, Raúl; Gil-Agudelo, Diego Luis; Rodríguez-Ramírez, Alberto; Reyes-Nivia, María Catalina; Garzón-Ferreira, Jaime

2010-05-01

Since 1998 the National Monitoring System for the Coral Reefs of Colombia (SIMAC) has monitored the occurrence of coral bleaching and diseases in some Colombian coral reefs (permanent stations at San Andres Island, Rosario Islands, Tayrona, San Bernardo Islands and Urabá). The main purpose is to evaluate their health status and to understand the factors that have been contributing to their decline. To estimate these occurrences, annual surveys in 126 permanent belt transects (10 x 2m) with different depth intervals (3-6 meters, 9-12 meters and 15-18 meters) are performed at all reef sites. Data from the 1998-2004 period, revealed that San Andrés Island had many colonies with diseases (38.9 colonies/m2), and Urabá had high numbers with bleaching (54.4 colonies/m2). Of the seven reported coral diseases studied, Dark Spots Disease (DSD), and White Plague Disease (WPD) were noteworthy because they occurred in all Caribbean monitored sites, and because of their high interannual infection incidence. Thirty five species of scleractinian corals were affected by at least one disease and a high incidence of coral diseases on the main reef builders is documented. Bleaching was present in 34 species. During the whole monitoring period, Agaricia agaricites and Siderastrea siderea were the species most severely affected by DSD and bleaching, respectively. Diseases on species such as Agaricia fragilis, A. grahamae, A. humilis, Diploria clivosa, Eusmilia fastigiata, Millepora complanata, and Mycetophyllia aliciae are recorded for first time in Colombia. We present bleaching and disease incidences, kinds of diseases, coral species affected, reef localities studied, depth intervals of surveys, and temporal (years) variation for each geographic area. This variation makes difficult to clearly determine defined patterns or general trends for monitored reefs. This is the first long-term study of coral diseases and bleaching in the Southwestern Caribbean, and one of the few long-term monitoring studies on coral diseases worldwide.

Normal female phenotype and ovarian development despite the ovarian expression of the sex-determining region of Y chromosome (SRY) in a 46,XX/69,XXY diploid/triploid mosaic child conceived after in vitro fertilization-intracytoplasmic sperm injection.

PubMed

Oktem, Ozgur; Paduch, Darius A; Xu, Kangpu; Mielnik, Anna; Oktay, Kutluk

2007-03-01

Diploid/triploid mosaicism (mixoploidy) is a rare chromosomal abnormality characterized by mental and growth retardation, hypotonia, and dysmorphic features such as facial asymmetry, low-set ears, and syndactyly. All 46,XX/69,XXY cases fall into three phenotypic groups: male with testicular development, ovotestis disorder of sex development (DSD), or undervirilized male DSD. All phenotypic females with diploid/triploid mosaic reported so far had 46,XX/69,XXX karyotype. We report an 8-year-old girl conceived after in vitro fertilization-intracytoplasmic sperm injection with normal internal/external genital and ovarian development despite 46,XX/69,XXY mosaicism and normal expression of sex-determining region of Y chromosome (SRY) in her gonads. Because of the increased risk of gonadoblastoma resulting from Y chromosome mosaicism, her ovaries were removed by laparoscopy. Ovarian tissue was analyzed histologically as well as by fluorescence in situ hybridization, PCR, and RT-PCR amplification to determine the localization of Y chromosome and expression of SRY and DAX1 mRNA. Methylation-specific PCR was used to assess the inactivation pattern of X chromosomes. By laparoscopy, internal female genital anatomy appeared to be normal. Cytogenetic and molecular methods confirmed the presence of intact and functionally active Y chromosome in the ovary. Strikingly, histological assessment of the gonads showed normal ovarian architecture with abundant primordial follicles despite the presence of the Y chromosome in ovarian follicles and the expression of SRY mRNA in gonadal tissue. This case illustrates that normal ovarian development is possible in the presence of Y chromosome in ovarian follicles and despite the expression of SRY in ovarian tissue. Furthermore, this is the first documented case of mixoploidy after in vitro fertilization-intracytoplasmic sperm injection and the only phenotypic female with 46,XX/69,XXY karyotype.

DOE Office of Scientific and Technical Information (OSTI.GOV)

Arbanas, G; Dietrich, F S; Kerman, A K

A method for computing direct-semidirect (DSD) neutron radiative capture is presented and applied to thermal neutron capture on {sup 19}F, {sup 27}Al, {sup 28,29.30}Si, {sup 35,37}Cl, {sup 39,41}K, {sup 56}Fe, and {sup 238}U, in support of data evaluation effort at the O.R.N.L. The DSD method includes both direct and semidirect capture; the latter is a core-polarization term in which the giant dipole resonance is formed. We study the effects of a commonly used ''density'' approximation to the EM operator and find it to be unsatisfactory for the nuclei considered here. We also study the magnitude of semidirect capture relative tomore » the pure direct capture. Furthermore, we compare our results with those obtained from another direct capture code (Tedca [17]). We also compare our results with those obtained from analytical expression for external capture derived by Lane and Lynn [3], and its extension to include internal capture [7]. To estimate the effect of nuclear deformation on direct capture, we computed direct thermal capture on {sup 238}U with and without imposition of spherical symmetry. Direct capture for a spherically symmetric {sup 238}U was approximately 6 mb, while a quadrupole deformation of 0.215 on the shape of {sup 238}U lowers this cross section down to approximately 2 mb. This result suggests that effects of nuclear deformation on direct capture warrant a further study. We also find out that contribution to the direct capture on {sup 238}U from the nuclear interior significantly cancels that coming from the exterior region, and hence both contributions must be taken into account. We reproduced a well known discrepancy between the computed and observed branching ratios in {sup 56}Fe(n,{gamma}). This will lead us to revisit the concept of doorway states in the particle-hole model.« less

Enhancing Lifestyle Change in Cardiac Patients Through the Do CHANGE System ("Do Cardiac Health: Advanced New Generation Ecosystem"): Randomized Controlled Trial Protocol.

PubMed

Habibović, Mirela; Broers, Eva; Piera-Jimenez, Jordi; Wetzels, Mart; Ayoola, Idowu; Denollet, Johan; Widdershoven, Jos

2018-02-08

Promoting a healthy lifestyle (eg, physical activity, healthy diet) is crucial for the primary and secondary prevention of cardiac disease in order to decrease disease burden and mortality. The current trial aims to evaluate the effectiveness of the Do Cardiac Health: Advanced New Generation Ecosystem (Do CHANGE) service, which is developed to assist cardiac patients in adopting a healthy lifestyle and improving their quality of life. Cardiac patients (ie, people who have been diagnosed with heart failure, coronary artery disease, and/or hypertension) will be recruited at three pilot sites (Badalona Serveis Assistencials, Badalona, Spain [N=75]; Buddhist Tzu Chi Dalin General Hospital, Dalin, Taiwan [N=100] and Elisabeth-TweeSteden Hospital, Tilburg, The Netherlands [N=75]). Patients will be assisted by the Do Something Different (DSD) program to change their unhealthy habits and/or lifestyle. DSD has been developed to increase behavioral flexibility and subsequently adopt new (healthier) habits. In addition, patients' progress will be monitored with a number of (newly developed) devices (eg, Fitbit, Beddit, COOKiT, FLUiT), which will be integrated in one application. The Do CHANGE trial will provide us with new insights regarding the effectiveness of the proposed intervention in different cultural settings. In addition, it will give insight into what works for whom and why. The Do CHANGE service integrates new technologies into a behavior change intervention in order to change the unhealthy lifestyles of cardiac patients. The program is expected to facilitate long-term, sustainable behavioral change. Clinicaltrials.gov NCT03178305; https://clinicaltrials.gov/ct2/show/NCT03178305 (Archived by WebCite at http://www.webcitation.org/6wfWHvuyU). ©Mirela Habibović, Eva Broers, Jordi Piera-Jimenez, Mart Wetzels, Idowu Ayoola, Johan Denollet, Jos Widdershoven. Originally published in JMIR Research Protocols (http://www.researchprotocols.org), 08.02.2018.

Fate of recently fixed carbon in European beech (Fagus sylvatica) saplings during drought and subsequent recovery.

PubMed

Zang, Ulrich; Goisser, Michael; Grams, Thorsten E E; Häberle, Karl-Heinz; Matyssek, Rainer; Matzner, Egbert; Borken, Werner

2014-01-01

Drought reduces the carbon (C) assimilation of trees and decouples aboveground from belowground carbon fluxes, but little is known about the response of drought-stressed trees to rewetting. This study aims to assess dynamics and patterns of C allocation in beech saplings under dry and rewetted soil conditions. In October 2010, 5-year-old beech saplings from a forest site were transplanted into 20 l pots. In 2011, the saplings were subjected to different levels of soil drought ranging from non-limiting water supply (control) to severe water limitation with soil water potentials of less than -1.5 MPa. As a physiologically relevant measure of drought, the cumulated soil water potential (i.e., drought stress dose (DSD)) was calculated for the growing season. In late August, the saplings were transferred into a climate chamber and pulse-labeled with (13)C-depleted CO2 (δ(13)C of -47‰). Isotopic signatures in leaf and soil respiration were repeatedly measured. Five days after soil rewetting, a second label was applied using 99 atom% (13)CO2. After another 12 days, the fate of assimilated C in each sapling was assessed by calculating the (13)C mass balance. Photosynthesis decreased by 60% in saplings under severe drought. The mean residence time (MRT) of recent assimilates in leaf respiration was more than three times longer than under non-limited conditions and was positively correlated to DSD. Also, the appearance of the label in soil respiration was delayed. Within 5 days after rewetting, photosynthesis, MRT of recent assimilates in leaf respiration and appearance of the label in soil respiration recovered fully. Despite the fast recovery, less label was recovered in the biomass of the previously drought-stressed plants, which also allocated less C to the root compartment (45 vs 64% in the control). We conclude that beech saplings quickly recover from extreme soil drought, although transitional after-effects prevail in C allocation, possibly due to repair-driven respiratory processes.

Very Large Rain Drops from 2D Video Disdrometers and Concomitant Polarimetric Radar Observations

NASA Technical Reports Server (NTRS)

Thurai, Merhala; Gatlin, Patrick; Bringi, V. N.; Carey, Lawrence

2014-01-01

Drop size distribution (DSD) measurements using ground-based disdrometers (point measurements) have often been used to derive equations to relate radar observations to the integral rainfall parameters (Atlas et al. 1999, Bringi et al., 2003, Kozu et al., 2006, Tokay and Short, 1996, Ajayi and Owolabi, 1987, Battan, 1973). Disdrometers such as JWD, MRR and several others have a major limitation in measuring drops with equi-volume diameters (D(sub eq)) larger than 5 mm because they often rely on the velocity-diameter relationship which plateaus beyond this diameter range (Atlas et al., 1973, Gunn & Kinzer, 1949). Other disdrometers such as Parsivel also lack accuracy beyond this diameter range. The 2D video disdrometer (2DVD: Schönhuber et al., 2008) on the other hand gives drop-shape contours and velocities for each individual drop/hydrometeor falling through its sensor area; this provides a unique opportunity to study the role of very-large drops on radar measurements in particular those with polarimetric radar capability where DSDs with a significant component of very large drops may require special consideration given that the differential reflectivity and other polarimetric radar parameters including attenuation-correction methods will be sensitive to the concentrations of these large drops. A recent study on the occurrence of large drops by Gatlin et al. (2014) has compiled a large and diverse set of measurements made with the 2D video disdrometers from many locations around the globe. Some of the largest drops found in this study were 9 mm D(sub eq) and larger, and in this paper, we report on three such events, with maximum D(sub eq's) of 9.0, 9.1 and 9.7 mm, which occurred in Colorado, Northern Alabama, and Oklahoma, respectively. Detailed examination of the 2DVD data - in terms of shapes and fall velocities - has confirmed that these are fully-melted hydrometeors, although for the last case in Oklahoma, a bigger and non-fully-melted hydrometeor was also observed. All three events were also captured by polarimetric radars, namely the S-band CHILL radar operated by Colorado State University (Brunkow et al., 2000), the C-band ARMOR radar (Petersen et al., 2007) operated by University of Alabama in Huntsville, and NEXRADKVNX, operated by the US National Weather Service, respectively. For the last event, several other radar observations were also made, including two X-band radars operated by the US Dept. of Energy. Analyses of 2DVD data in conjunction with the corresponding radar observations are presented, along with some discussion on sampling issues related to the measurements of such large rain drops. The latter is addressed using maximum diameter D(sub max) measurements from 1-minute DSDs using two collocated 2DVDs for 37 events in Huntsville.

Regional probability distribution of the annual reference evapotranspiration and its effective parameters in Iran

NASA Astrophysics Data System (ADS)

Khanmohammadi, Neda; Rezaie, Hossein; Montaseri, Majid; Behmanesh, Javad

2017-10-01

The reference evapotranspiration (ET0) plays an important role in water management plans in arid or semi-arid countries such as Iran. For this reason, the regional analysis of this parameter is important. But, ET0 process is affected by several meteorological parameters such as wind speed, solar radiation, temperature and relative humidity. Therefore, the effect of distribution type of effective meteorological variables on ET0 distribution was analyzed. For this purpose, the regional probability distribution of the annual ET0 and its effective parameters were selected. Used data in this research was recorded data at 30 synoptic stations of Iran during 1960-2014. Using the probability plot correlation coefficient (PPCC) test and the L-moment method, five common distributions were compared and the best distribution was selected. The results of PPCC test and L-moment diagram indicated that the Pearson type III distribution was the best probability distribution for fitting annual ET0 and its four effective parameters. The results of RMSE showed that the ability of the PPCC test and L-moment method for regional analysis of reference evapotranspiration and its effective parameters was similar. The results also showed that the distribution type of the parameters which affected ET0 values can affect the distribution of reference evapotranspiration.

Recovering Parameters of Johnson's SB Distribution

Treesearch

Bernard R. Parresol

2003-01-01

A new parameter recovery model for Johnson's SB distribution is developed. This latest alternative approach permits recovery of the range and both shape parameters. Previous models recovered only the two shape parameters. Also, a simple procedure for estimating the distribution minimum from sample values is presented. The new methodology...

Transmuted of Rayleigh Distribution with Estimation and Application on Noise Signal

NASA Astrophysics Data System (ADS)

Ahmed, Suhad; Qasim, Zainab

2018-05-01

This paper deals with transforming one parameter Rayleigh distribution, into transmuted probability distribution through introducing a new parameter (λ), since this studied distribution is necessary in representing signal data distribution and failure data model the value of this transmuted parameter |λ| ≤ 1, is also estimated as well as the original parameter (⊖) by methods of moments and maximum likelihood using different sample size (n=25, 50, 75, 100) and comparing the results of estimation by statistical measure (mean square error, MSE).

Overview and Scientific Agenda of Global Precipitation Mission

NASA Technical Reports Server (NTRS)

Smith, Eric A.; Einaudi, Franco (Technical Monitor)

2001-01-01

This paper addresses the status of the Global Precipitation Mission (GPM) currently planned for launch in the 2007-2008 time frame. The GPM notional design involves a 9-member satellite constellation, one of which wilt be an advanced TRMM-like "core" satellite carrying a dual-frequency Ku-Ka band radar (DFPR) and a TMI-like radiometer. The other eight members of the constellation will be considered daughters of the core satellite, each carrying some type of passive microwave radiometer measuring across the 10.7 - 85 GHz ,frequency range - likely to include a combination of lightweight satellites and co-existing operational/Experimental satellites carrying passive microwave radiometers (i.e., SSM/I and AMSR-E & -F). The constellation is designed to provide no worse than 3-hour sampling at any spot on the globe using sun-synchronous orbit architecture for the daughter satellites, with the core satellite providing relevant measurements on internal cloud-precipitation microphysical processes and the "training-calibrating" information for retrieval algorithms used on daughter satellite measurements. The GPM is organized internationally, currently involving a partnership between NASA in the US, NASDA in Japan, and ESA in Europe (representing the European community nations). The mission is expected to involve additional international participants, sister agencies to the mainstream space agencies, and a diverse collection scientists from academia, government, and the private sector, A critical element in understanding the scientific thinking which has motivated the GPM project is an understanding of what scientific problems TRMM has and has not been able to address and at what scales. The TRMM satellite broke important scientific ground because it carried to space an array of rain-sensitive instruments, two of which were specifically designed for physical precipitation retrieval. These were the 9-channel TRMM Microwave Imager (TMI) and the 13.8 GHz Precipitation Radar (PR). By the same token, because TRMM is a single satellite in a low inclination, low altitude, non-sun-synchronous orbit, it cannot provide global coverage or regular diurnal sampling. These features are essential for many current scientific inquiries involving physical processes of climate and the global water cycle, the modeling of hydrometeorological-biogeochemical cycling, and coupled land-atmosphere/ocean-atmosphere exchanges. Moreover, TRMM has not been able to retrieve explicit properties of the drop size distribution (DSD), a final major barrier to making accurate rain measurements, because the single frequency TRMM radar cannot measure differential reflectivity. which is a minimal requirement for attacking rain retrieval within the framework of extinction cross-section-dependency. GPM is expected to surmount much of the DSD retrieval problem because its core satellite wilt have the capacity to make differential reflectivity measurements with its Ku-Ka band radar (13.6 - 35 GHz) called DFPR - being developed by NASDA/CRL in Japan. This paper will provide an overview of the above issues as well as present a discussion on the expected measurement improvements.

Reconstruction of atmospheric pollutant concentrations from remote sensing data - An application of distributed parameter observer theory

NASA Technical Reports Server (NTRS)

Koda, M.; Seinfeld, J. H.

1982-01-01

The reconstruction of a concentration distribution from spatially averaged and noise-corrupted data is a central problem in processing atmospheric remote sensing data. Distributed parameter observer theory is used to develop reconstructibility conditions for distributed parameter systems having measurements typical of those in remote sensing. The relation of the reconstructibility condition to the stability of the distributed parameter observer is demonstrated. The theory is applied to a variety of remote sensing situations, and it is found that those in which concentrations are measured as a function of altitude satisfy the conditions of distributed state reconstructibility.

Generalized Pseudo-Reaction Zone Model for Non-Ideal Explosives

NASA Astrophysics Data System (ADS)

Wescott, B. L.

2007-12-01

The pseudo-reaction zone model was proposed to improve engineering scale simulations with high explosives that have a slow reaction component. In this work an extension of the pseudo-reaction zone model is developed for non-ideal explosives that propagate well below the steady-planar Chapman-Jouguet velocity. A programmed burn method utilizing Detonation Shock Dynamics (DSD) and a detonation velocity dependent pseudo-reaction rate has been developed for non-ideal explosives and applied to the explosive mixture of ammonium nitrate and fuel oil (ANFO). The pseudo-reaction rate is calibrated to the experimentally obtained normal detonation velocity—shock curvature relation. Cylinder test simulations predict the proper expansion to within 1% even though significant reaction occurs as the cylinder expands.

Gender identity of children and young adults with 5alpha-reductase deficiency.

PubMed

Praveen, E P; Desai, Ankush K; Khurana, M L; Philip, Jim; Eunice, Marumudi; Khadgawat, Rajesh; Kulshreshtha, Bindu; Kucheria, Kiran; Gupta, Devendra K; Seith, Ashu; Ammini, Ariachery C

2008-02-01

Male pseudohermaphroditism (46,XY DSD) due to 5alpha-reductase deficiency has been recognized for the last few decades. There is scant literature on this entity in India. We compiled data on five patients with this disorder. Four of our five patients were reared as females. Our assessment of these children reveals that they had male gender identity from childhood. Three of the four reared as females chose to change gender role at adolescence, while the fourth is still prepubertal. We conclude that all these patients had male gender identity from early childhood. The parents took note of this only after the appearance of male secondary sexual characteristics at puberty, thereby giving an impression of change in gender identity and gender role.

Development of uncertainty-based work injury model using Bayesian structural equation modelling.

PubMed

Chatterjee, Snehamoy

2014-01-01

This paper proposed a Bayesian method-based structural equation model (SEM) of miners' work injury for an underground coal mine in India. The environmental and behavioural variables for work injury were identified and causal relationships were developed. For Bayesian modelling, prior distributions of SEM parameters are necessary to develop the model. In this paper, two approaches were adopted to obtain prior distribution for factor loading parameters and structural parameters of SEM. In the first approach, the prior distributions were considered as a fixed distribution function with specific parameter values, whereas, in the second approach, prior distributions of the parameters were generated from experts' opinions. The posterior distributions of these parameters were obtained by applying Bayesian rule. The Markov Chain Monte Carlo sampling in the form Gibbs sampling was applied for sampling from the posterior distribution. The results revealed that all coefficients of structural and measurement model parameters are statistically significant in experts' opinion-based priors, whereas, two coefficients are not statistically significant when fixed prior-based distributions are applied. The error statistics reveals that Bayesian structural model provides reasonably good fit of work injury with high coefficient of determination (0.91) and less mean squared error as compared to traditional SEM.

Distribution of rain height over subtropical region: Durban, South Africa for satellite communication systems

NASA Astrophysics Data System (ADS)

Olurotimi, E. O.; Sokoya, O.; Ojo, J. S.; Owolawi, P. A.

2018-03-01

Rain height is one of the significant parameters for prediction of rain attenuation for Earth-space telecommunication links, especially those operating at frequencies above 10 GHz. This study examines Three-parameter Dagum distribution of the rain height over Durban, South Africa. 5-year data were used to study the monthly, seasonal, and annual variations using the parameters estimated by the maximum likelihood of the distribution. The performance estimation of the distribution was determined using the statistical goodness of fit. Three-parameter Dagum distribution shows an appropriate distribution for the modeling of rain height over Durban with the Root Mean Square Error of 0.26. Also, the shape and scale parameters for the distribution show a wide variation. The probability exceedance of time for 0.01% indicates the high probability of rain attenuation at higher frequencies.

Mathematical Model to estimate the wind power using four-parameter Burr distribution

NASA Astrophysics Data System (ADS)

Liu, Sanming; Wang, Zhijie; Pan, Zhaoxu

2018-03-01

When the real probability of wind speed in the same position needs to be described, the four-parameter Burr distribution is more suitable than other distributions. This paper introduces its important properties and characteristics. Also, the application of the four-parameter Burr distribution in wind speed prediction is discussed, and the expression of probability distribution of output power of wind turbine is deduced.

Parameter estimation for the 4-parameter Asymmetric Exponential Power distribution by the method of L-moments using R

USGS Publications Warehouse

Asquith, William H.

2014-01-01

The implementation characteristics of two method of L-moments (MLM) algorithms for parameter estimation of the 4-parameter Asymmetric Exponential Power (AEP4) distribution are studied using the R environment for statistical computing. The objective is to validate the algorithms for general application of the AEP4 using R. An algorithm was introduced in the original study of the L-moments for the AEP4. A second or alternative algorithm is shown to have a larger L-moment-parameter domain than the original. The alternative algorithm is shown to provide reliable parameter production and recovery of L-moments from fitted parameters. A proposal is made for AEP4 implementation in conjunction with the 4-parameter Kappa distribution to create a mixed-distribution framework encompassing the joint L-skew and L-kurtosis domains. The example application provides a demonstration of pertinent algorithms with L-moment statistics and two 4-parameter distributions (AEP4 and the Generalized Lambda) for MLM fitting to a modestly asymmetric and heavy-tailed dataset using R.

Kuduck Dwsr-88c Radar Rainfall Estimation and Z-r Relationship By Poss During 2001 In Korea

NASA Astrophysics Data System (ADS)

Lee, D. I.; Jang, M.; You, C. H.; Kim, K. E.; Suh, A. S.

The Z-R relationship is derived by linear regression and is used to convert the radar reflectivity Z into the rainfall rate R. It is expressed in terms of an equation of the form as Z=aR^b. The a and b are constant values which have been determined empirically and carried out studies on the calibration of Z-R relationship by many people in many places. However our operational weather radars have been using such as Z=200R^1.6 which can be applied in the case of stratiform clouds. In considering the seasonal vari- ation and rainfall type, this equation is not adequate for many kinds of rainfall events. This fact gives an uncertain result for rainfall estimation and has damage of proper- ties by the incorrect forecast. A statistical Z-R relationship and correction of rainrate were obtained by the drop size distribution(DSD) with calibration of the radar Z-R relationship in Busan city. Precipitation data were observed and measured by a dis- drometer(POSS), a weather radar and a rain gauge of AWS from March to September 2001. As a result, Z-R relationship obtained by disdrometer(POSS) was Z=415R^1.51, even though they can not be sufficiently coverd at all precipitation, since it was not considered the classification of precipitation type and long terms data. New calculated Z-R relationship which was converted to the correlation reflectivity(Zc) between radar reflectivity(Zr) and POSS reflectivity(Zp) was well applied to the estimation of rain- fall rate and it was very variable according to the precipitation events. Therefore, it is found that Kuduck DWSR-88C weather radar has to be operated at more accurate one calibrated and calculated to the new Z-R relationship. In addition, through long precipitation observations with drop size distribution measurements, Z-R relationship has to be continuously provided at each precipitation type.

Verification of the Global Precipitation Measurement (GPM) Satellite by the Olympic Mountains Experiment (OLYMPEX)

NASA Astrophysics Data System (ADS)

McMurdie, L. A.; Houze, R.

2017-12-01

Measurements of global precipitation are critical for monitoring Earth's water resources and hydrological processes, including flooding and snowpack accumulation. As such, the Global Precipitation Measurement (GPM) Mission `Core' satellite detects precipitation ranging from light snow to heavy downpours in a wide range locations including remote mountainous regions. The Olympic Mountains Experiment (OLYMPEX) during the 2015-2016 fall-winter season in the mountainous Olympic Peninsula of Washington State provide physical and hydrological validation for GPM precipitation algorithms and insight into the modification of midlatitude storms by passage over mountains. The instrumentation included ground-based dual-polarization Doppler radars on the windward and leeward sides of the Olympic Mountains, surface stations that measured precipitation rates, particle size distributions and fall velocities at various altitudes, research aircraft equipped with cloud microphysics probes, radars, lidar, and passive radiometers, supplemental rawinsondes and dropsondes, and autonomous recording cameras that monitored snowpack accumulation. Results based on dropsize distributions (DSDs) and cross-sections of radar reflectivity over the ocean and windward slopes have revealed important considerations for GPM algorithm development. During periods of great precipitation accumulation and enhancement by the mountains on windward slopes, both warm rain and ice-phase processes are present, implying that it is important for GPM retrievals be sensitive to both types of precipitation mechanisms and to represent accurately the concentration of precipitation at the lowest possible altitudes. OLYMPEX data revealed that a given rain rate could be associated with a variety of DSDs, which presents a challenge for GPM precipitation retrievals in extratropical cyclones passing over mountains. Some of the DSD regimes measured during OLYMPEX stratiform periods have the same characteristics found in prior studies of tropical convection, and it was common to observe high reflectivities in the stratiform brightband region. These findings cast doubt on traditional methods of identifying and measuring convective and stratiform rain based on DSDs and radar reflectivity thresholds.

S-wave velocities of the lithosphere-asthenosphere system in the Lesser Antilles from the joint inversion of surface wave dispersion and receiver function analysis

NASA Astrophysics Data System (ADS)

González, O'Leary; Clouard, Valerie; Tait, Stephen; Panza, Giuliano F.

2018-06-01

We present an overview of S-wave velocities (Vs) within the crust and upper mantle of the Lesser Antilles as determined with 19 seismic broadband stations. Receiver functions (RF) have been computed from teleseismic recordings of earthquakes, and Rayleigh wave group velocity dispersion relations have been taken from earlier surface wave tomographic studies in the Caribbean area. Local smoothness optimization (LSO) procedure has been applied, combined with an H-K stacking method, the spatial distribution of hypocenters of local earthquakes and of the energy they released, in order to identify an optimum 1D model of Vs below each station. Several features of the Caribbean plate and its interaction with the Atlantic subducting slab are visible in the resulting models: (a) relatively thick oceanic crust below these stations ranges from 21 km to 33 km, being slight thinner in the middle of the island arc; (b) crustal low velocity zones are present below stations SABA, SEUS, SKI, SMRT, CBE, DSD, GCMP and TDBA; (c) lithospheric thickness range from 40 km to 105 km but lithosphere-asthenosphere boundary was not straightforward to correlate between stations; (d) the aseismic mantle wedge between the Caribbean seismic lithosphere and the subducted slab varies in thickness as well as Vs values which are, in general, lower below the West of Martinique than below the West of Guadeloupe; (e) the depth of the subducted slab beneath the volcanic arc, appears to be greater to the North, and relatively shallower below some stations (e.g. DLPL, SAM, BIM and FDF) than was estimated in previous studies based on the depth-distribution of seismicity; f) the WBZ is >10-15 km deeper than the top of the slab below the Central Lesser Antilles (Martinique and Dominica) where the presence of partial melt in the mantle wedge seems also to be more evident.

The Sensitivity of Parameter Estimates to the Latent Ability Distribution. Research Report. ETS RR-11-40

ERIC Educational Resources Information Center

Xu, Xueli; Jia, Yue

2011-01-01

Estimation of item response model parameters and ability distribution parameters has been, and will remain, an important topic in the educational testing field. Much research has been dedicated to addressing this task. Some studies have focused on item parameter estimation when the latent ability was assumed to follow a normal distribution,…

Probability Analysis of the Wave-Slamming Pressure Values of the Horizontal Deck with Elastic Support

NASA Astrophysics Data System (ADS)

Zuo, Weiguang; Liu, Ming; Fan, Tianhui; Wang, Pengtao

2018-06-01

This paper presents the probability distribution of the slamming pressure from an experimental study of regular wave slamming on an elastically supported horizontal deck. The time series of the slamming pressure during the wave impact were first obtained through statistical analyses on experimental data. The exceeding probability distribution of the maximum slamming pressure peak and distribution parameters were analyzed, and the results show that the exceeding probability distribution of the maximum slamming pressure peak accords with the three-parameter Weibull distribution. Furthermore, the range and relationships of the distribution parameters were studied. The sum of the location parameter D and the scale parameter L was approximately equal to 1.0, and the exceeding probability was more than 36.79% when the random peak was equal to the sample average during the wave impact. The variation of the distribution parameters and slamming pressure under different model conditions were comprehensively presented, and the parameter values of the Weibull distribution of wave-slamming pressure peaks were different due to different test models. The parameter values were found to decrease due to the increased stiffness of the elastic support. The damage criterion of the structure model caused by the wave impact was initially discussed, and the structure model was destroyed when the average slamming time was greater than a certain value during the duration of the wave impact. The conclusions of the experimental study were then described.

Probability weighted moments: Definition and relation to parameters of several distributions expressable in inverse form

USGS Publications Warehouse

Greenwood, J. Arthur; Landwehr, J. Maciunas; Matalas, N.C.; Wallis, J.R.

1979-01-01

Distributions whose inverse forms are explicitly defined, such as Tukey's lambda, may present problems in deriving their parameters by more conventional means. Probability weighted moments are introduced and shown to be potentially useful in expressing the parameters of these distributions.

Probability Distribution Estimated From the Minimum, Maximum, and Most Likely Values: Applied to Turbine Inlet Temperature Uncertainty

NASA Technical Reports Server (NTRS)

Holland, Frederic A., Jr.

2004-01-01

Modern engineering design practices are tending more toward the treatment of design parameters as random variables as opposed to fixed, or deterministic, values. The probabilistic design approach attempts to account for the uncertainty in design parameters by representing them as a distribution of values rather than as a single value. The motivations for this effort include preventing excessive overdesign as well as assessing and assuring reliability, both of which are important for aerospace applications. However, the determination of the probability distribution is a fundamental problem in reliability analysis. A random variable is often defined by the parameters of the theoretical distribution function that gives the best fit to experimental data. In many cases the distribution must be assumed from very limited information or data. Often the types of information that are available or reasonably estimated are the minimum, maximum, and most likely values of the design parameter. For these situations the beta distribution model is very convenient because the parameters that define the distribution can be easily determined from these three pieces of information. Widely used in the field of operations research, the beta model is very flexible and is also useful for estimating the mean and standard deviation of a random variable given only the aforementioned three values. However, an assumption is required to determine the four parameters of the beta distribution from only these three pieces of information (some of the more common distributions, like the normal, lognormal, gamma, and Weibull distributions, have two or three parameters). The conventional method assumes that the standard deviation is a certain fraction of the range. The beta parameters are then determined by solving a set of equations simultaneously. A new method developed in-house at the NASA Glenn Research Center assumes a value for one of the beta shape parameters based on an analogy with the normal distribution (ref.1). This new approach allows for a very simple and direct algebraic solution without restricting the standard deviation. The beta parameters obtained by the new method are comparable to the conventional method (and identical when the distribution is symmetrical). However, the proposed method generally produces a less peaked distribution with a slightly larger standard deviation (up to 7 percent) than the conventional method in cases where the distribution is asymmetric or skewed. The beta distribution model has now been implemented into the Fast Probability Integration (FPI) module used in the NESSUS computer code for probabilistic analyses of structures (ref. 2).

Distributed activation energy model parameters of some Turkish coals

DOE Office of Scientific and Technical Information (OSTI.GOV)

Gunes, M.; Gunes, S.K.

2008-07-01

A multi-reaction model based on distributed activation energy has been applied to some Turkish coals. The kinetic parameters of distributed activation energy model were calculated via computer program developed for this purpose. It was observed that the values of mean of activation energy distribution vary between 218 and 248 kJ/mol, and the values of standard deviation of activation energy distribution vary between 32 and 70 kJ/mol. The correlations between kinetic parameters of the distributed activation energy model and certain properties of coal have been investigated.

Bayesian Parameter Inference and Model Selection by Population Annealing in Systems Biology

PubMed Central

Murakami, Yohei

2014-01-01

Parameter inference and model selection are very important for mathematical modeling in systems biology. Bayesian statistics can be used to conduct both parameter inference and model selection. Especially, the framework named approximate Bayesian computation is often used for parameter inference and model selection in systems biology. However, Monte Carlo methods needs to be used to compute Bayesian posterior distributions. In addition, the posterior distributions of parameters are sometimes almost uniform or very similar to their prior distributions. In such cases, it is difficult to choose one specific value of parameter with high credibility as the representative value of the distribution. To overcome the problems, we introduced one of the population Monte Carlo algorithms, population annealing. Although population annealing is usually used in statistical mechanics, we showed that population annealing can be used to compute Bayesian posterior distributions in the approximate Bayesian computation framework. To deal with un-identifiability of the representative values of parameters, we proposed to run the simulations with the parameter ensemble sampled from the posterior distribution, named “posterior parameter ensemble”. We showed that population annealing is an efficient and convenient algorithm to generate posterior parameter ensemble. We also showed that the simulations with the posterior parameter ensemble can, not only reproduce the data used for parameter inference, but also capture and predict the data which was not used for parameter inference. Lastly, we introduced the marginal likelihood in the approximate Bayesian computation framework for Bayesian model selection. We showed that population annealing enables us to compute the marginal likelihood in the approximate Bayesian computation framework and conduct model selection depending on the Bayes factor. PMID:25089832

L-moments and TL-moments of the generalized lambda distribution

USGS Publications Warehouse

Asquith, W.H.

2007-01-01

The 4-parameter generalized lambda distribution (GLD) is a flexible distribution capable of mimicking the shapes of many distributions and data samples including those with heavy tails. The method of L-moments and the recently developed method of trimmed L-moments (TL-moments) are attractive techniques for parameter estimation for heavy-tailed distributions for which the L- and TL-moments have been defined. Analytical solutions for the first five L- and TL-moments in terms of GLD parameters are derived. Unfortunately, numerical methods are needed to compute the parameters from the L- or TL-moments. Algorithms are suggested for parameter estimation. Application of the GLD using both L- and TL-moment parameter estimates from example data is demonstrated, and comparison of the L-moment fit of the 4-parameter kappa distribution is made. A small simulation study of the 98th percentile (far-right tail) is conducted for a heavy-tail GLD with high-outlier contamination. The simulations show, with respect to estimation of the 98th-percent quantile, that TL-moments are less biased (more robost) in the presence of high-outlier contamination. However, the robustness comes at the expense of considerably more sampling variability. ?? 2006 Elsevier B.V. All rights reserved.

Photon statistics of a two-mode squeezed vacuum

NASA Technical Reports Server (NTRS)

Schrade, Guenter; Akulin, V. M.; Schleich, W. P.; Manko, Vladimir I.

1994-01-01

We investigate the general case of the photon distribution of a two-mode squeezed vacuum and show that the distribution of photons among the two modes depends on four parameters: two squeezing parameters, the relative phase between the two oscillators and their spatial orientation. The distribution of the total number of photons depends only on the two squeezing parameters. We derive analytical expressions and present pictures for both distributions.

Statistical Characterization of the Mechanical Parameters of Intact Rock Under Triaxial Compression: An Experimental Proof of the Jinping Marble

NASA Astrophysics Data System (ADS)

Jiang, Quan; Zhong, Shan; Cui, Jie; Feng, Xia-Ting; Song, Leibo

2016-12-01

We investigated the statistical characteristics and probability distribution of the mechanical parameters of natural rock using triaxial compression tests. Twenty cores of Jinping marble were tested under each different levels of confining stress (i.e., 5, 10, 20, 30, and 40 MPa). From these full stress-strain data, we summarized the numerical characteristics and determined the probability distribution form of several important mechanical parameters, including deformational parameters, characteristic strength, characteristic strains, and failure angle. The statistical proofs relating to the mechanical parameters of rock presented new information about the marble's probabilistic distribution characteristics. The normal and log-normal distributions were appropriate for describing random strengths of rock; the coefficients of variation of the peak strengths had no relationship to the confining stress; the only acceptable random distribution for both Young's elastic modulus and Poisson's ratio was the log-normal function; and the cohesive strength had a different probability distribution pattern than the frictional angle. The triaxial tests and statistical analysis also provided experimental evidence for deciding the minimum reliable number of experimental sample and for picking appropriate parameter distributions to use in reliability calculations for rock engineering.

Numerical details and SAS programs for parameter recovery of the SB distribution

Treesearch

Bernard R. Parresol; Teresa Fidalgo Fonseca; Carlos Pacheco Marques

2010-01-01

The four-parameter SB distribution has seen widespread use in growth-and-yield modeling because it covers a broad spectrum of shapes, fitting both positively and negatively skewed data and bimodal configurations. Two recent parameter recovery schemes, an approach whereby characteristics of a statistical distribution are equated with attributes of...

Frequency distributions and correlations of solar X-ray flare parameters

NASA Technical Reports Server (NTRS)

Crosby, Norma B.; Aschwanden, Markus J.; Dennis, Brian R.

1993-01-01

Frequency distributions of flare parameters are determined from over 12,000 solar flares. The flare duration, the peak counting rate, the peak hard X-ray flux, the total energy in electrons, and the peak energy flux in electrons are among the parameters studied. Linear regression fits, as well as the slopes of the frequency distributions, are used to determine the correlations between these parameters. The relationship between the variations of the frequency distributions and the solar activity cycle is also investigated. Theoretical models for the frequency distribution of flare parameters are dependent on the probability of flaring and the temporal evolution of the flare energy build-up. The results of this study are consistent with stochastic flaring and exponential energy build-up. The average build-up time constant is found to be 0.5 times the mean time between flares.

Characterizing and Optimizing Photocathode Laser Distributions for Ultra-low Emittance Electron Beam Operations

DOE Office of Scientific and Technical Information (OSTI.GOV)

Zhou, F.; Bohler, D.; Ding, Y.

2015-12-07

Photocathode RF gun has been widely used for generation of high-brightness electron beams for many different applications. We found that the drive laser distributions in such RF guns play important roles in minimizing the electron beam emittance. Characterizing the laser distributions with measurable parameters and optimizing beam emittance versus the laser distribution parameters in both spatial and temporal directions are highly desired for high-brightness electron beam operation. In this paper, we report systematic measurements and simulations of emittance dependence on the measurable parameters represented for spatial and temporal laser distributions at the photocathode RF gun systems of Linac Coherent Lightmore » Source. The tolerable parameter ranges for photocathode drive laser distributions in both directions are presented for ultra-low emittance beam operations.« less

Estimation and impact assessment of input and parameter uncertainty in predicting groundwater flow with a fully distributed model

NASA Astrophysics Data System (ADS)

Touhidul Mustafa, Syed Md.; Nossent, Jiri; Ghysels, Gert; Huysmans, Marijke

2017-04-01

Transient numerical groundwater flow models have been used to understand and forecast groundwater flow systems under anthropogenic and climatic effects, but the reliability of the predictions is strongly influenced by different sources of uncertainty. Hence, researchers in hydrological sciences are developing and applying methods for uncertainty quantification. Nevertheless, spatially distributed flow models pose significant challenges for parameter and spatially distributed input estimation and uncertainty quantification. In this study, we present a general and flexible approach for input and parameter estimation and uncertainty analysis of groundwater models. The proposed approach combines a fully distributed groundwater flow model (MODFLOW) with the DiffeRential Evolution Adaptive Metropolis (DREAM) algorithm. To avoid over-parameterization, the uncertainty of the spatially distributed model input has been represented by multipliers. The posterior distributions of these multipliers and the regular model parameters were estimated using DREAM. The proposed methodology has been applied in an overexploited aquifer in Bangladesh where groundwater pumping and recharge data are highly uncertain. The results confirm that input uncertainty does have a considerable effect on the model predictions and parameter distributions. Additionally, our approach also provides a new way to optimize the spatially distributed recharge and pumping data along with the parameter values under uncertain input conditions. It can be concluded from our approach that considering model input uncertainty along with parameter uncertainty is important for obtaining realistic model predictions and a correct estimation of the uncertainty bounds.

Oxide vapor distribution from a high-frequency sweep e-beam system

NASA Astrophysics Data System (ADS)

Chow, R.; Tassano, P. L.; Tsujimoto, N.

1995-03-01

Oxide vapor distributions have been determined as a function of operating parameters of a high frequency sweep e-beam source combined with a programmable sweep controller. We will show which parameters are significant, the parameters that yield the broadest oxide deposition distribution, and the procedure used to arrive at these conclusions. A design-of-experimental strategy was used with five operating parameters: evaporation rate, sweep speed, sweep pattern (pre-programmed), phase speed (azimuthal rotation of the pattern), profile (dwell time as a function of radial position). A design was chosen that would show which of the parameters and parameter pairs have a statistically significant effect on the vapor distribution. Witness flats were placed symmetrically across a 25 inches diameter platen. The stationary platen was centered 24 inches above the e-gun crucible. An oxide material was evaporated under 27 different conditions. Thickness measurements were made with a stylus profilometer. The information will enable users of the high frequency e-gun systems to optimally locate the source in a vacuum system and understand which parameters have a major effect on the vapor distribution.

A Comparative Study of Distribution System Parameter Estimation Methods

DOE Office of Scientific and Technical Information (OSTI.GOV)

Sun, Yannan; Williams, Tess L.; Gourisetti, Sri Nikhil Gup

2016-07-17

In this paper, we compare two parameter estimation methods for distribution systems: residual sensitivity analysis and state-vector augmentation with a Kalman filter. These two methods were originally proposed for transmission systems, and are still the most commonly used methods for parameter estimation. Distribution systems have much lower measurement redundancy than transmission systems. Therefore, estimating parameters is much more difficult. To increase the robustness of parameter estimation, the two methods are applied with combined measurement snapshots (measurement sets taken at different points in time), so that the redundancy for computing the parameter values is increased. The advantages and disadvantages of bothmore » methods are discussed. The results of this paper show that state-vector augmentation is a better approach for parameter estimation in distribution systems. Simulation studies are done on a modified version of IEEE 13-Node Test Feeder with varying levels of measurement noise and non-zero error in the other system model parameters.« less

Advanced computational techniques for incompressible/compressible fluid-structure interactions

NASA Astrophysics Data System (ADS)

Kumar, Vinod

2005-07-01

Fluid-Structure Interaction (FSI) problems are of great importance to many fields of engineering and pose tremendous challenges to numerical analyst. This thesis addresses some of the hurdles faced for both 2D and 3D real life time-dependent FSI problems with particular emphasis on parachute systems. The techniques developed here would help improve the design of parachutes and are of direct relevance to several other FSI problems. The fluid system is solved using the Deforming-Spatial-Domain/Stabilized Space-Time (DSD/SST) finite element formulation for the Navier-Stokes equations of incompressible and compressible flows. The structural dynamics solver is based on a total Lagrangian finite element formulation. Newton-Raphson method is employed to linearize the otherwise nonlinear system resulting from the fluid and structure formulations. The fluid and structural systems are solved in decoupled fashion at each nonlinear iteration. While rigorous coupling methods are desirable for FSI simulations, the decoupled solution techniques provide sufficient convergence in the time-dependent problems considered here. In this thesis, common problems in the FSI simulations of parachutes are discussed and possible remedies for a few of them are presented. Further, the effects of the porosity model on the aerodynamic forces of round parachutes are analyzed. Techniques for solving compressible FSI problems are also discussed. Subsequently, a better stabilization technique is proposed to efficiently capture and accurately predict the shocks in supersonic flows. The numerical examples simulated here require high performance computing. Therefore, numerical tools using distributed memory supercomputers with message passing interface (MPI) libraries were developed.

Detection of small orientation changes and the precision of visual working memory.

PubMed

Salmela, Viljami R; Saarinen, Jussi

2013-01-14

We investigated the precision of orientation representations with two tasks, change detection and recall. Previously change detection has been measured only with relatively large orientation changes compared to psychophysical thresholds. In the first experiment, we measured the observers' ability (d') to detect small changes in orientation (5-30°) with 1-4 Gabor items. With one item even a 10° change was well detected (average d'=2.5). As the amount of change increased to 30°, the d' increased to 5.2. When the number of items was increased, the d's gradually decreased. In the second experiment, we used a recall task and the observers adjusted the orientation of a probe Gabor to match the orientation of a Gabor held in the memory. The standard deviation (s.d.) of errors was calculated from the Gaussian distribution fitted to the data. As the number of items increased from 1 to 6, the s.d. increased from 8.6° to 19.6°. Even with six items, the observers did not make any random adjustments. The results show a square root relation between the d'/s.d. and the number of items. The d' in change detection is directly proportional to the square root of (1/n) and the orientation change. The increase of the s.d. in recall task is inversely proportional to square root of (1/n). The results suggest that limited resources and precision of representations, without additional assumptions, determine the memory performance. Copyright © 2012 Elsevier Ltd. All rights reserved.

Loss of function mutation in the palmitoyl-transferase HHAT leads to syndromic 46,XY disorder of sex development by impeding Hedgehog protein palmitoylation and signaling.

PubMed

Callier, Patrick; Calvel, Pierre; Matevossian, Armine; Makrythanasis, Periklis; Bernard, Pascal; Kurosaka, Hiroshi; Vannier, Anne; Thauvin-Robinet, Christel; Borel, Christelle; Mazaud-Guittot, Séverine; Rolland, Antoine; Desdoits-Lethimonier, Christèle; Guipponi, Michel; Zimmermann, Céline; Stévant, Isabelle; Kuhne, Françoise; Conne, Béatrice; Santoni, Federico; Lambert, Sandy; Huet, Frederic; Mugneret, Francine; Jaruzelska, Jadwiga; Faivre, Laurence; Wilhelm, Dagmar; Jégou, Bernard; Trainor, Paul A; Resh, Marilyn D; Antonarakis, Stylianos E; Nef, Serge

2014-05-01

The Hedgehog (Hh) family of secreted proteins act as morphogens to control embryonic patterning and development in a variety of organ systems. Post-translational covalent attachment of cholesterol and palmitate to Hh proteins are critical for multimerization and long range signaling potency. However, the biological impact of lipid modifications on Hh ligand distribution and signal reception in humans remains unclear. In the present study, we report a unique case of autosomal recessive syndromic 46,XY Disorder of Sex Development (DSD) with testicular dysgenesis and chondrodysplasia resulting from a homozygous G287V missense mutation in the hedgehog acyl-transferase (HHAT) gene. This mutation occurred in the conserved membrane bound O-acyltransferase (MBOAT) domain and experimentally disrupted the ability of HHAT to palmitoylate Hh proteins such as DHH and SHH. Consistent with the patient phenotype, HHAT was found to be expressed in the somatic cells of both XX and XY gonads at the time of sex determination, and Hhat loss of function in mice recapitulates most of the testicular, skeletal, neuronal and growth defects observed in humans. In the developing testis, HHAT is not required for Sertoli cell commitment but plays a role in proper testis cord formation and the differentiation of fetal Leydig cells. Altogether, these results shed new light on the mechanisms of action of Hh proteins. Furthermore, they provide the first clinical evidence of the essential role played by lipid modification of Hh proteins in human testicular organogenesis and embryonic development.

Loss of Function Mutation in the Palmitoyl-Transferase HHAT Leads to Syndromic 46,XY Disorder of Sex Development by Impeding Hedgehog Protein Palmitoylation and Signaling

PubMed Central

Makrythanasis, Periklis; Bernard, Pascal; Kurosaka, Hiroshi; Vannier, Anne; Thauvin-Robinet, Christel; Borel, Christelle; Mazaud-Guittot, Séverine; Rolland, Antoine; Desdoits-Lethimonier, Christèle; Guipponi, Michel; Zimmermann, Céline; Stévant, Isabelle; Kuhne, Françoise; Conne, Béatrice; Santoni, Federico; Lambert, Sandy; Huet, Frederic; Mugneret, Francine; Jaruzelska, Jadwiga; Faivre, Laurence; Wilhelm, Dagmar; Jégou, Bernard; Trainor, Paul A.; Resh, Marilyn D.; Antonarakis, Stylianos E.; Nef, Serge

2014-01-01

The Hedgehog (Hh) family of secreted proteins act as morphogens to control embryonic patterning and development in a variety of organ systems. Post-translational covalent attachment of cholesterol and palmitate to Hh proteins are critical for multimerization and long range signaling potency. However, the biological impact of lipid modifications on Hh ligand distribution and signal reception in humans remains unclear. In the present study, we report a unique case of autosomal recessive syndromic 46,XY Disorder of Sex Development (DSD) with testicular dysgenesis and chondrodysplasia resulting from a homozygous G287V missense mutation in the hedgehog acyl-transferase (HHAT) gene. This mutation occurred in the conserved membrane bound O-acyltransferase (MBOAT) domain and experimentally disrupted the ability of HHAT to palmitoylate Hh proteins such as DHH and SHH. Consistent with the patient phenotype, HHAT was found to be expressed in the somatic cells of both XX and XY gonads at the time of sex determination, and Hhat loss of function in mice recapitulates most of the testicular, skeletal, neuronal and growth defects observed in humans. In the developing testis, HHAT is not required for Sertoli cell commitment but plays a role in proper testis cord formation and the differentiation of fetal Leydig cells. Altogether, these results shed new light on the mechanisms of action of Hh proteins. Furthermore, they provide the first clinical evidence of the essential role played by lipid modification of Hh proteins in human testicular organogenesis and embryonic development. PMID:24784881

Conventional and Explicitly Correlated ab Initio Benchmark Study on Water Clusters: Revision of the BEGDB and WATER27 Data Sets.

PubMed

Manna, Debashree; Kesharwani, Manoj K; Sylvetsky, Nitai; Martin, Jan M L

2017-07-11

Benchmark ab initio energies for BEGDB and WATER27 data sets have been re-examined at the MP2 and CCSD(T) levels with both conventional and explicitly correlated (F12) approaches. The basis set convergence of both conventional and explicitly correlated methods has been investigated in detail, both with and without counterpoise corrections. For the MP2 and CCSD-MP2 contributions, rapid basis set convergence observed with explicitly correlated methods is compared to conventional methods. However, conventional, orbital-based calculations are preferred for the calculation of the (T) term, since it does not benefit from F12. CCSD(F12*) converges somewhat faster with the basis set than CCSD-F12b for the CCSD-MP2 term. The performance of various DFT methods is also evaluated for the BEGDB data set, and results show that Head-Gordon's ωB97X-V and ωB97M-V functionals outperform all other DFT functionals. Counterpoise-corrected DSD-PBEP86 and raw DSD-PBEPBE-NL also perform well and are close to MP2 results. In the WATER27 data set, the anionic (deprotonated) water clusters exhibit unacceptably slow basis set convergence with the regular cc-pVnZ-F12 basis sets, which have only diffuse s and p functions. To overcome this, we have constructed modified basis sets, denoted aug-cc-pVnZ-F12 or aVnZ-F12, which have been augmented with diffuse functions on the higher angular momenta. The calculated final dissociation energies of BEGDB and WATER27 data sets are available in the Supporting Information. Our best calculated dissociation energies can be reproduced through n-body expansion, provided one pushes to the basis set and electron correlation limit for the two-body term; for the three-body term, post-MP2 contributions (particularly CCSD-MP2) are important for capturing the three-body dispersion effects. Terms beyond four-body can be adequately captured at the MP2-F12 level.

Modeling normal shock velocity curvature relations for heterogeneous explosives

NASA Astrophysics Data System (ADS)

Yoo, Sunhee; Crochet, Michael; Pemberton, Steven

2017-01-01

The theory of Detonation Shock Dynamics (DSD) is, in part, an asymptotic method to model a functional form of the relation between the shock normal, its time rate and shock curvature κ. In addition, the shock polar analysis provides a relation between shock angle θ and the detonation velocity Dn that is dependent on the equations of state (EOS) of two adjacent materials. For the axial detonation of an explosive material confined by a cylinder, the shock angle is defined as the angle between the shock normal and the normal to the cylinder liner, located at the intersection of the shock front and cylinder inner wall. Therefore, given an ideal explosive such as PBX-9501 with two functional models determined, a unique, smooth detonation front shape ψ can be determined that approximates the steady state detonation shock front of the explosive. However, experimental measurements of the Dn(κ) relation for heterogeneous explosives such as PBXN-111 [D. K. Kennedy, 2000] are challenging due to the non-smoothness and asymmetry usually observed in the experimental streak records of explosion fronts. Out of many possibilities the asymmetric character may be attributed to the heterogeneity of the explosives; here, material heterogeneity refers to compositions with multiple components and having a grain morphology that can be modeled statistically. Therefore in extending the formulation of DSD to modern novel explosives, we pose two questions: (1) is there any simple hydrodynamic model that can simulate such an asymmetric shock evolution, and (2) what statistics can be derived for the asymmetry using simulations with defined structural heterogeneity in the unreacted explosive? Saenz, Taylor and Stewart [1] studied constitutive models for derivation of the Dn(κ) relation for porous homogeneous explosives and carried out simulations in a spherical coordinate frame. In this paper we extend their model to account for heterogeneity and present shock evolutions in heterogeneous explosives using 2-D hydrodynamic simulations with some statistical examination. As an initial work, we assume that the heterogeneity comes from the local density variation or porosity only.

Probabilistic biosphere modeling for the long-term safety assessment of geological disposal facilities for radioactive waste using first- and second-order Monte Carlo simulation.

PubMed

Ciecior, Willy; Röhlig, Klaus-Jürgen; Kirchner, Gerald

2018-10-01

In the present paper, deterministic as well as first- and second-order probabilistic biosphere modeling approaches are compared. Furthermore, the sensitivity of the influence of the probability distribution function shape (empirical distribution functions and fitted lognormal probability functions) representing the aleatory uncertainty (also called variability) of a radioecological model parameter as well as the role of interacting parameters are studied. Differences in the shape of the output distributions for the biosphere dose conversion factor from first-order Monte Carlo uncertainty analysis using empirical and fitted lognormal distribution functions for input parameters suggest that a lognormal approximation is possibly not always an adequate representation of the aleatory uncertainty of a radioecological parameter. Concerning the comparison of the impact of aleatory and epistemic parameter uncertainty on the biosphere dose conversion factor, the latter here is described using uncertain moments (mean, variance) while the distribution itself represents the aleatory uncertainty of the parameter. From the results obtained, the solution space of second-order Monte Carlo simulation is much larger than that from first-order Monte Carlo simulation. Therefore, the influence of epistemic uncertainty of a radioecological parameter on the output result is much larger than that one caused by its aleatory uncertainty. Parameter interactions are only of significant influence in the upper percentiles of the distribution of results as well as only in the region of the upper percentiles of the model parameters. Copyright © 2018 Elsevier Ltd. All rights reserved.

The evolution of Zipf's law indicative of city development

NASA Astrophysics Data System (ADS)

Chen, Yanguang

2016-02-01

Zipf's law of city-size distributions can be expressed by three types of mathematical models: one-parameter form, two-parameter form, and three-parameter form. The one-parameter and one of the two-parameter models are familiar to urban scientists. However, the three-parameter model and another type of two-parameter model have not attracted attention. This paper is devoted to exploring the conditions and scopes of application of these Zipf models. By mathematical reasoning and empirical analysis, new discoveries are made as follows. First, if the size distribution of cities in a geographical region cannot be described with the one- or two-parameter model, maybe it can be characterized by the three-parameter model with a scaling factor and a scale-translational factor. Second, all these Zipf models can be unified by hierarchical scaling laws based on cascade structure. Third, the patterns of city-size distributions seem to evolve from three-parameter mode to two-parameter mode, and then to one-parameter mode. Four-year census data of Chinese cities are employed to verify the three-parameter Zipf's law and the corresponding hierarchical structure of rank-size distributions. This study is revealing for people to understand the scientific laws of social systems and the property of urban development.

Probability distribution functions for unit hydrographs with optimization using genetic algorithm

NASA Astrophysics Data System (ADS)

Ghorbani, Mohammad Ali; Singh, Vijay P.; Sivakumar, Bellie; H. Kashani, Mahsa; Atre, Atul Arvind; Asadi, Hakimeh

2017-05-01

A unit hydrograph (UH) of a watershed may be viewed as the unit pulse response function of a linear system. In recent years, the use of probability distribution functions (pdfs) for determining a UH has received much attention. In this study, a nonlinear optimization model is developed to transmute a UH into a pdf. The potential of six popular pdfs, namely two-parameter gamma, two-parameter Gumbel, two-parameter log-normal, two-parameter normal, three-parameter Pearson distribution, and two-parameter Weibull is tested on data from the Lighvan catchment in Iran. The probability distribution parameters are determined using the nonlinear least squares optimization method in two ways: (1) optimization by programming in Mathematica; and (2) optimization by applying genetic algorithm. The results are compared with those obtained by the traditional linear least squares method. The results show comparable capability and performance of two nonlinear methods. The gamma and Pearson distributions are the most successful models in preserving the rising and recession limbs of the unit hydographs. The log-normal distribution has a high ability in predicting both the peak flow and time to peak of the unit hydrograph. The nonlinear optimization method does not outperform the linear least squares method in determining the UH (especially for excess rainfall of one pulse), but is comparable.

Sequential Testing of Hypotheses Concerning the Reliability of a System Modeled by a Two-Parameter Weibull Distribution.

DTIC Science & Technology

1981-12-01

CONCERNING THE RELIABILITY OF A SYSTEM MODELED BY A TWO-PARAMETER WEIBULL DISTRIBUTION THESIS AFIT/GOR/MA/81D-8 Philippe A. Lussier 2nd Lt USAF... MODELED BY A TWO-PARAMETER WEIBULL DISTRIBUTION THESIS Presented to the Faculty of the School of Engineering of the Air Force Institute of Technology...repetitions are used for these test procedures. vi Sequential Testing of Hypotheses Concerning the Reliability of a System Modeled by a Two-Parameter

Comparison of z-known GRBs with the Main Groups of Bright BATSE Events

NASA Technical Reports Server (NTRS)

Mitrofanov, Igor G.; Sanin, Anton B.; Anfimov, Dmitrij S.; Litvak, Maxim L.; Briggs, Michael S.; Paciesas, William S.; Pendleton, Geoffrey N.; Preece, Robert D.; Meegan, Charles A.; Whitaker, Ann F. (Technical Monitor)

2001-01-01

The small reference sample of six BATSE gamma-ray bursts with known redshifts from optical afterglows is compared with a comparison group of the 218 brightest BATSE bursts. These two groups are shown to be consistent both with respect to the distributions of the spectral peak parameter in the observer's frame and also with respect to the distributions of the frame-independent cosmological invariant parameter (CIP). Using the known values of the redshifts z for the reference sample, the rest-frame distribution of spectral parameters is built. The de-redshifted distribution of the spectral parameters of the reference sample is compared with distribution of these parameters for the comparison group after de-redshifting by the factor 1/(1+z), with z a free parameter. Requiring consistency between these two distributions produces a collective estimation of the best fitting redshifts z for the comparison group, z=1.8--3.6. These values can be considered as the average cosmological redshift of the sources of the brightest BATSE bursts. The most probable value of the peak energy of the spectrum in the rest frame is 920 keV, close to the rest mass of an electron-positron pair.

Investigating the Impact of Item Parameter Drift for Item Response Theory Models with Mixture Distributions.

PubMed

Park, Yoon Soo; Lee, Young-Sun; Xing, Kuan

2016-01-01

This study investigates the impact of item parameter drift (IPD) on parameter and ability estimation when the underlying measurement model fits a mixture distribution, thereby violating the item invariance property of unidimensional item response theory (IRT) models. An empirical study was conducted to demonstrate the occurrence of both IPD and an underlying mixture distribution using real-world data. Twenty-one trended anchor items from the 1999, 2003, and 2007 administrations of Trends in International Mathematics and Science Study (TIMSS) were analyzed using unidimensional and mixture IRT models. TIMSS treats trended anchor items as invariant over testing administrations and uses pre-calibrated item parameters based on unidimensional IRT. However, empirical results showed evidence of two latent subgroups with IPD. Results also showed changes in the distribution of examinee ability between latent classes over the three administrations. A simulation study was conducted to examine the impact of IPD on the estimation of ability and item parameters, when data have underlying mixture distributions. Simulations used data generated from a mixture IRT model and estimated using unidimensional IRT. Results showed that data reflecting IPD using mixture IRT model led to IPD in the unidimensional IRT model. Changes in the distribution of examinee ability also affected item parameters. Moreover, drift with respect to item discrimination and distribution of examinee ability affected estimates of examinee ability. These findings demonstrate the need to caution and evaluate IPD using a mixture IRT framework to understand its effects on item parameters and examinee ability.

Investigating the Impact of Item Parameter Drift for Item Response Theory Models with Mixture Distributions

PubMed Central

Park, Yoon Soo; Lee, Young-Sun; Xing, Kuan

2016-01-01

This study investigates the impact of item parameter drift (IPD) on parameter and ability estimation when the underlying measurement model fits a mixture distribution, thereby violating the item invariance property of unidimensional item response theory (IRT) models. An empirical study was conducted to demonstrate the occurrence of both IPD and an underlying mixture distribution using real-world data. Twenty-one trended anchor items from the 1999, 2003, and 2007 administrations of Trends in International Mathematics and Science Study (TIMSS) were analyzed using unidimensional and mixture IRT models. TIMSS treats trended anchor items as invariant over testing administrations and uses pre-calibrated item parameters based on unidimensional IRT. However, empirical results showed evidence of two latent subgroups with IPD. Results also showed changes in the distribution of examinee ability between latent classes over the three administrations. A simulation study was conducted to examine the impact of IPD on the estimation of ability and item parameters, when data have underlying mixture distributions. Simulations used data generated from a mixture IRT model and estimated using unidimensional IRT. Results showed that data reflecting IPD using mixture IRT model led to IPD in the unidimensional IRT model. Changes in the distribution of examinee ability also affected item parameters. Moreover, drift with respect to item discrimination and distribution of examinee ability affected estimates of examinee ability. These findings demonstrate the need to caution and evaluate IPD using a mixture IRT framework to understand its effects on item parameters and examinee ability. PMID:26941699

Dynamics of a distributed drill string system: Characteristic parameters and stability maps

NASA Astrophysics Data System (ADS)

Aarsnes, Ulf Jakob F.; van de Wouw, Nathan

2018-03-01

This paper involves the dynamic (stability) analysis of distributed drill-string systems. A minimal set of parameters characterizing the linearized, axial-torsional dynamics of a distributed drill string coupled through the bit-rock interaction is derived. This is found to correspond to five parameters for a simple drill string and eight parameters for a two-sectioned drill-string (e.g., corresponding to the pipe and collar sections of a drilling system). These dynamic characterizations are used to plot the inverse gain margin of the system, parametrized in the non-dimensional parameters, effectively creating a stability map covering the full range of realistic physical parameters. This analysis reveals a complex spectrum of dynamics not evident in stability analysis with lumped models, thus indicating the importance of analysis using distributed models. Moreover, it reveals trends concerning stability properties depending on key system parameters useful in the context of system and control design aiming at the mitigation of vibrations.

Log-Normal Distribution of Cosmic Voids in Simulations and Mocks

NASA Astrophysics Data System (ADS)

Russell, E.; Pycke, J.-R.

2017-01-01

Following up on previous studies, we complete here a full analysis of the void size distributions of the Cosmic Void Catalog based on three different simulation and mock catalogs: dark matter (DM), haloes, and galaxies. Based on this analysis, we attempt to answer two questions: Is a three-parameter log-normal distribution a good candidate to satisfy the void size distributions obtained from different types of environments? Is there a direct relation between the shape parameters of the void size distribution and the environmental effects? In an attempt to answer these questions, we find here that all void size distributions of these data samples satisfy the three-parameter log-normal distribution whether the environment is dominated by DM, haloes, or galaxies. In addition, the shape parameters of the three-parameter log-normal void size distribution seem highly affected by environment, particularly existing substructures. Therefore, we show two quantitative relations given by linear equations between the skewness and the maximum tree depth, and between the variance of the void size distribution and the maximum tree depth, directly from the simulated data. In addition to this, we find that the percentage of voids with nonzero central density in the data sets has a critical importance. If the number of voids with nonzero central density reaches ≥3.84% in a simulation/mock sample, then a second population is observed in the void size distributions. This second population emerges as a second peak in the log-normal void size distribution at larger radius.

Reliability Estimation of Aero-engine Based on Mixed Weibull Distribution Model

NASA Astrophysics Data System (ADS)

Yuan, Zhongda; Deng, Junxiang; Wang, Dawei

2018-02-01

Aero-engine is a complex mechanical electronic system, based on analysis of reliability of mechanical electronic system, Weibull distribution model has an irreplaceable role. Till now, only two-parameter Weibull distribution model and three-parameter Weibull distribution are widely used. Due to diversity of engine failure modes, there is a big error with single Weibull distribution model. By contrast, a variety of engine failure modes can be taken into account with mixed Weibull distribution model, so it is a good statistical analysis model. Except the concept of dynamic weight coefficient, in order to make reliability estimation result more accurately, three-parameter correlation coefficient optimization method is applied to enhance Weibull distribution model, thus precision of mixed distribution reliability model is improved greatly. All of these are advantageous to popularize Weibull distribution model in engineering applications.

Note about a pure spin-connection formulation of general relativity and spin-2 duality in (A)dS

NASA Astrophysics Data System (ADS)

Basile, Thomas; Bekaert, Xavier; Boulanger, Nicolas

2016-06-01

We investigate the problem of finding a pure spin-connection formulation of general relativity with nonvanishing cosmological constant. We first revisit the problem at the linearized level and find that the pure spin-connection, quadratic Lagrangian, takes a form reminiscent to Weyl gravity, given by the square of a Weyl-like tensor. Upon Hodge dualization, we show that the dual gauge field in (A )dSD transforms under G L (D ) in the same representation as a massive graviton in the flat spacetime of the same dimension. We give a detailed proof that the physical degrees of freedom indeed correspond to a massless graviton propagating around the (anti-) de Sitter background and finally speculate about a possible nonlinear pure-connection theory dual to general relativity with cosmological constant.

Degradation sources in GaAs--AlGaAs double-heterostructure lasers

DOE Office of Scientific and Technical Information (OSTI.GOV)

Ito, R.; Nakashima, H.; Kishino, S.

1975-07-01

Several sources of the dark-line defect (DLD) that causes rapid degradation of GaAs-AlGaAs double-heterostructure (DH) lasers have been identified by means of photoluminescence (PL) topography and a laser-induced degradation technique. All the sources that have been identified correspond to crystal defects, among which dark-spot defects (DSD) that are native to as-grown wafers are found to be most important. The growth and propagation processes of DLDs and DSDs have also been investigated. These defects are found to be highly mobile under high-intensity laser pumping. The correlation between the substrate dislocations and the DSDs has been examined by etching and x-ray topography.more » Although most DSDs correspond to etch-pits in epilayers, they are not always correlated with substrate dislocations. (auth)« less

Ethical decision-making in the dilemma of the intersex infant.

PubMed

Lathrop, Breanna L; Cheney, Teresa B; Hayman, Annette B

2014-03-01

The Making Ethical Decisions about Surgical Intervention (MEDSI) tool is designed to guide health care professionals, patients, and families faced with ethically charged decisions regarding surgical interventions for pediatric patients. MEDSI is built on the principles of beneficence, nonmaleficence, and patient autonomy and created to promote truth-telling, compassion, respect for patient cultural and religious preferences, and appropriate follow up in the clinical setting. Following an overview of the 8 steps that compose MEDSI, the tool is applied to the management of intersex infants. The birth of a child with a disorder of sexual development (DSD) and ambiguous genitalia presents an ethically challenging situation for the family and health care team. The use of the MEDSI model is demonstrated in a case study involving the decision of surgical intervention in the management of an intersex child.

Systems and methods for optimal power flow on a radial network

DOEpatents

Low, Steven H.; Peng, Qiuyu

2018-04-24

Node controllers and power distribution networks in accordance with embodiments of the invention enable distributed power control. One embodiment includes a node controller including a distributed power control application; a plurality of node operating parameters describing the operating parameter of a node and a set of at least one node selected from the group consisting of an ancestor node and at least one child node; wherein send node operating parameters to nodes in the set of at least one node; receive operating parameters from the nodes in the set of at least one node; calculate a plurality of updated node operating parameters using an iterative process to determine the updated node operating parameters using the node operating parameters that describe the operating parameters of the node and the set of at least one node, where the iterative process involves evaluation of a closed form solution; and adjust node operating parameters.

Approximation of the breast height diameter distribution of two-cohort stands by mixture models I Parameter estimation

Treesearch

Rafal Podlaski; Francis A. Roesch

2013-01-01

Study assessed the usefulness of various methods for choosing the initial values for the numerical procedures for estimating the parameters of mixture distributions and analysed variety of mixture models to approximate empirical diameter at breast height (dbh) distributions. Two-component mixtures of either the Weibull distribution or the gamma distribution were...

Multiplication and Presence of Shielding Material from Time-Correlated Pulse-Height Measurements of Subcritical Plutonium Assemblies

DOE PAGES

Monterial, Mateusz; Marleau, Peter; Paff, Marc; ...

2017-01-20

Here, we present the results from the first measurements of the Time-Correlated Pulse-Height (TCPH) distributions from 4.5 kg sphere of α-phase weapons-grade plutonium metal in five configurations: bare, reflected by 1.27 cm and 2.54 cm of tungsten, and 2.54 cm and 7.62 cm of polyethylene. A new method for characterizing source multiplication and shielding configuration is also demonstrated. The method relies on solving for the underlying fission chain timing distribution that drives the spreading of the measured TCPH distribution. We found that a gamma distribution fits the fission chain timing distribution well and that the fit parameters correlate with bothmore » multiplication (rate parameter) and shielding material types (shape parameter). The source-to-detector distance was another free parameter that we were able to optimize, and proved to be the most well constrained parameter. MCNPX-PoliMi simulations were used to complement the measurements and help illustrate trends in these parameters and their relation to multiplication and the amount and type of material coupled to the subcritical assembly.« less

Multiplication and Presence of Shielding Material from Time-Correlated Pulse-Height Measurements of Subcritical Plutonium Assemblies

NASA Astrophysics Data System (ADS)

Monterial, Mateusz; Marleau, Peter; Paff, Marc; Clarke, Shaun; Pozzi, Sara

2017-04-01

We present the results from the first measurements of the Time-Correlated Pulse-Height (TCPH) distributions from 4.5 kg sphere of α-phase weapons-grade plutonium metal in five configurations: bare, reflected by 1.27 cm and 2.54 cm of tungsten, and 2.54 cm and 7.62 cm of polyethylene. A new method for characterizing source multiplication and shielding configuration is also demonstrated. The method relies on solving for the underlying fission chain timing distribution that drives the spreading of the measured TCPH distribution. We found that a gamma distribution fits the fission chain timing distribution well and that the fit parameters correlate with both multiplication (rate parameter) and shielding material types (shape parameter). The source-to-detector distance was another free parameter that we were able to optimize, and proved to be the most well constrained parameter. MCNPX-PoliMi simulations were used to complement the measurements and help illustrate trends in these parameters and their relation to multiplication and the amount and type of material coupled to the subcritical assembly.

Exact Scheffé-type confidence intervals for output from groundwater flow models: 2. Combined use of hydrogeologic information and calibration data

USGS Publications Warehouse

Cooley, Richard L.

1993-01-01

Calibration data (observed values corresponding to model-computed values of dependent variables) are incorporated into a general method of computing exact Scheffé-type confidence intervals analogous to the confidence intervals developed in part 1 (Cooley, this issue) for a function of parameters derived from a groundwater flow model. Parameter uncertainty is specified by a distribution of parameters conditioned on the calibration data. This distribution was obtained as a posterior distribution by applying Bayes' theorem to the hydrogeologically derived prior distribution of parameters from part 1 and a distribution of differences between the calibration data and corresponding model-computed dependent variables. Tests show that the new confidence intervals can be much smaller than the intervals of part 1 because the prior parameter variance-covariance structure is altered so that combinations of parameters that give poor model fit to the data are unlikely. The confidence intervals of part 1 and the new confidence intervals can be effectively employed in a sequential method of model construction whereby new information is used to reduce confidence interval widths at each stage.

Measurement of Device Parameters Using Image Recovery Techniques in Large-Scale IC Devices

NASA Technical Reports Server (NTRS)

Scheick, Leif; Edmonds, Larry

2004-01-01

Devices that respond to radiation on a cell level will produce histograms showing the relative frequency of cell damage as a function of damage. The measured distribution is the convolution of distributions from radiation responses, measurement noise, and manufacturing parameters. A method of extracting device characteristics and parameters from measured distributions via mathematical and image subtraction techniques is described.

Investigation of Dielectric Breakdown Characteristics for Double-break Vacuum Interrupter and Dielectric Breakdown Probability Distribution in Vacuum Interrupter

NASA Astrophysics Data System (ADS)

Shioiri, Tetsu; Asari, Naoki; Sato, Junichi; Sasage, Kosuke; Yokokura, Kunio; Homma, Mitsutaka; Suzuki, Katsumi

To investigate the reliability of equipment of vacuum insulation, a study was carried out to clarify breakdown probability distributions in vacuum gap. Further, a double-break vacuum circuit breaker was investigated for breakdown probability distribution. The test results show that the breakdown probability distribution of the vacuum gap can be represented by a Weibull distribution using a location parameter, which shows the voltage that permits a zero breakdown probability. The location parameter obtained from Weibull plot depends on electrode area. The shape parameter obtained from Weibull plot of vacuum gap was 10∼14, and is constant irrespective non-uniform field factor. The breakdown probability distribution after no-load switching can be represented by Weibull distribution using a location parameter. The shape parameter after no-load switching was 6∼8.5, and is constant, irrespective of gap length. This indicates that the scatter of breakdown voltage was increased by no-load switching. If the vacuum circuit breaker uses a double break, breakdown probability at low voltage becomes lower than single-break probability. Although potential distribution is a concern in the double-break vacuum cuicuit breaker, its insulation reliability is better than that of the single-break vacuum interrupter even if the bias of the vacuum interrupter's sharing voltage is taken into account.

Distribution of water quality parameters in Dhemaji district, Assam (India).

PubMed

Buragohain, Mridul; Bhuyan, Bhabajit; Sarma, H P

2010-07-01

The primary objective of this study is to present a statistically significant water quality database of Dhemaji district, Assam (India) with special reference to pH, fluoride, nitrate, arsenic, iron, sodium and potassium. 25 water samples collected from different locations of five development blocks in Dhemaji district have been studied separately. The implications presented are based on statistical analyses of the raw data. Normal distribution statistics and reliability analysis (correlation and covariance matrix) have been employed to find out the distribution pattern, localisation of data, and other related information. Statistical observations show that all the parameters under investigation exhibit non uniform distribution with a long asymmetric tail either on the right or left side of the median. The width of the third quartile was consistently found to be more than the second quartile for each parameter. Differences among mean, mode and median, significant skewness and kurtosis value indicate that the distribution of various water quality parameters in the study area is widely off normal. Thus, the intrinsic water quality is not encouraging due to unsymmetrical distribution of various water quality parameters in the study area.

On the Use of the Beta Distribution in Probabilistic Resource Assessments

DOE Office of Scientific and Technical Information (OSTI.GOV)

Olea, Ricardo A., E-mail: olea@usgs.gov

2011-12-15

The triangular distribution is a popular choice when it comes to modeling bounded continuous random variables. Its wide acceptance derives mostly from its simple analytic properties and the ease with which modelers can specify its three parameters through the extremes and the mode. On the negative side, hardly any real process follows a triangular distribution, which from the outset puts at a disadvantage any model employing triangular distributions. At a time when numerical techniques such as the Monte Carlo method are displacing analytic approaches in stochastic resource assessments, easy specification remains the most attractive characteristic of the triangular distribution. Themore » beta distribution is another continuous distribution defined within a finite interval offering wider flexibility in style of variation, thus allowing consideration of models in which the random variables closely follow the observed or expected styles of variation. Despite its more complex definition, generation of values following a beta distribution is as straightforward as generating values following a triangular distribution, leaving the selection of parameters as the main impediment to practically considering beta distributions. This contribution intends to promote the acceptance of the beta distribution by explaining its properties and offering several suggestions to facilitate the specification of its two shape parameters. In general, given the same distributional parameters, use of the beta distributions in stochastic modeling may yield significantly different results, yet better estimates, than the triangular distribution.« less

Statistical distributions of earthquake numbers: consequence of branching process

NASA Astrophysics Data System (ADS)

Kagan, Yan Y.

2010-03-01

We discuss various statistical distributions of earthquake numbers. Previously, we derived several discrete distributions to describe earthquake numbers for the branching model of earthquake occurrence: these distributions are the Poisson, geometric, logarithmic and the negative binomial (NBD). The theoretical model is the `birth and immigration' population process. The first three distributions above can be considered special cases of the NBD. In particular, a point branching process along the magnitude (or log seismic moment) axis with independent events (immigrants) explains the magnitude/moment-frequency relation and the NBD of earthquake counts in large time/space windows, as well as the dependence of the NBD parameters on the magnitude threshold (magnitude of an earthquake catalogue completeness). We discuss applying these distributions, especially the NBD, to approximate event numbers in earthquake catalogues. There are many different representations of the NBD. Most can be traced either to the Pascal distribution or to the mixture of the Poisson distribution with the gamma law. We discuss advantages and drawbacks of both representations for statistical analysis of earthquake catalogues. We also consider applying the NBD to earthquake forecasts and describe the limits of the application for the given equations. In contrast to the one-parameter Poisson distribution so widely used to describe earthquake occurrence, the NBD has two parameters. The second parameter can be used to characterize clustering or overdispersion of a process. We determine the parameter values and their uncertainties for several local and global catalogues, and their subdivisions in various time intervals, magnitude thresholds, spatial windows, and tectonic categories. The theoretical model of how the clustering parameter depends on the corner (maximum) magnitude can be used to predict future earthquake number distribution in regions where very large earthquakes have not yet occurred.

Integrating satellite actual evapotranspiration patterns into distributed model parametrization and evaluation for a mesoscale catchment

NASA Astrophysics Data System (ADS)

Demirel, M. C.; Mai, J.; Stisen, S.; Mendiguren González, G.; Koch, J.; Samaniego, L. E.

2016-12-01

Distributed hydrologic models are traditionally calibrated and evaluated against observations of streamflow. Spatially distributed remote sensing observations offer a great opportunity to enhance spatial model calibration schemes. For that it is important to identify the model parameters that can change spatial patterns before the satellite based hydrologic model calibration. Our study is based on two main pillars: first we use spatial sensitivity analysis to identify the key parameters controlling the spatial distribution of actual evapotranspiration (AET). Second, we investigate the potential benefits of incorporating spatial patterns from MODIS data to calibrate the mesoscale Hydrologic Model (mHM). This distributed model is selected as it allows for a change in the spatial distribution of key soil parameters through the calibration of pedo-transfer function parameters and includes options for using fully distributed daily Leaf Area Index (LAI) directly as input. In addition the simulated AET can be estimated at the spatial resolution suitable for comparison to the spatial patterns observed using MODIS data. We introduce a new dynamic scaling function employing remotely sensed vegetation to downscale coarse reference evapotranspiration. In total, 17 parameters of 47 mHM parameters are identified using both sequential screening and Latin hypercube one-at-a-time sampling methods. The spatial patterns are found to be sensitive to the vegetation parameters whereas streamflow dynamics are sensitive to the PTF parameters. The results of multi-objective model calibration show that calibration of mHM against observed streamflow does not reduce the spatial errors in AET while they improve only the streamflow simulations. We will further examine the results of model calibration using only multi spatial objective functions measuring the association between observed AET and simulated AET maps and another case including spatial and streamflow metrics together.

A Bayesian approach to parameter and reliability estimation in the Poisson distribution.

NASA Technical Reports Server (NTRS)

Canavos, G. C.

1972-01-01

For life testing procedures, a Bayesian analysis is developed with respect to a random intensity parameter in the Poisson distribution. Bayes estimators are derived for the Poisson parameter and the reliability function based on uniform and gamma prior distributions of that parameter. A Monte Carlo procedure is implemented to make possible an empirical mean-squared error comparison between Bayes and existing minimum variance unbiased, as well as maximum likelihood, estimators. As expected, the Bayes estimators have mean-squared errors that are appreciably smaller than those of the other two.

Optimal Bayesian Adaptive Design for Test-Item Calibration.

PubMed

van der Linden, Wim J; Ren, Hao

2015-06-01

An optimal adaptive design for test-item calibration based on Bayesian optimality criteria is presented. The design adapts the choice of field-test items to the examinees taking an operational adaptive test using both the information in the posterior distributions of their ability parameters and the current posterior distributions of the field-test parameters. Different criteria of optimality based on the two types of posterior distributions are possible. The design can be implemented using an MCMC scheme with alternating stages of sampling from the posterior distributions of the test takers' ability parameters and the parameters of the field-test items while reusing samples from earlier posterior distributions of the other parameters. Results from a simulation study demonstrated the feasibility of the proposed MCMC implementation for operational item calibration. A comparison of performances for different optimality criteria showed faster calibration of substantial numbers of items for the criterion of D-optimality relative to A-optimality, a special case of c-optimality, and random assignment of items to the test takers.

Double density dynamics: realizing a joint distribution of a physical system and a parameter system

NASA Astrophysics Data System (ADS)

Fukuda, Ikuo; Moritsugu, Kei

2015-11-01

To perform a variety of types of molecular dynamics simulations, we created a deterministic method termed ‘double density dynamics’ (DDD), which realizes an arbitrary distribution for both physical variables and their associated parameters simultaneously. Specifically, we constructed an ordinary differential equation that has an invariant density relating to a joint distribution of the physical system and the parameter system. A generalized density function leads to a physical system that develops under nonequilibrium environment-describing superstatistics. The joint distribution density of the physical system and the parameter system appears as the Radon-Nikodym derivative of a distribution that is created by a scaled long-time average, generated from the flow of the differential equation under an ergodic assumption. The general mathematical framework is fully discussed to address the theoretical possibility of our method, and a numerical example representing a 1D harmonic oscillator is provided to validate the method being applied to the temperature parameters.

A note about Gaussian statistics on a sphere

NASA Astrophysics Data System (ADS)

Chave, Alan D.

2015-11-01

The statistics of directional data on a sphere can be modelled either using the Fisher distribution that is conditioned on the magnitude being unity, in which case the sample space is confined to the unit sphere, or using the latitude-longitude marginal distribution derived from a trivariate Gaussian model that places no constraint on the magnitude. These two distributions are derived from first principles and compared. The Fisher distribution more closely approximates the uniform distribution on a sphere for a given small value of the concentration parameter, while the latitude-longitude marginal distribution is always slightly larger than the Fisher distribution at small off-axis angles for large values of the concentration parameter. Asymptotic analysis shows that the two distributions only become equivalent in the limit of large concentration parameter and very small off-axis angle.

Evaluation of the Three Parameter Weibull Distribution Function for Predicting Fracture Probability in Composite Materials

DTIC Science & Technology

1978-03-01

for the risk of rupture for a unidirectionally laminat - ed composite subjected to pure bending. (5D This equation can be simplified further by use of...C EVALUATION OF THE THREE PARAMETER WEIBULL DISTRIBUTION FUNCTION FOR PREDICTING FRACTURE PROBABILITY IN COMPOSITE MATERIALS. THESIS / AFIT/GAE...EVALUATION OF THE THREE PARAMETER WE1BULL DISTRIBUTION FUNCTION FOR PREDICTING FRACTURE PROBABILITY IN COMPOSITE MATERIALS THESIS Presented

Reliability analysis of structural ceramic components using a three-parameter Weibull distribution

NASA Technical Reports Server (NTRS)

Duffy, Stephen F.; Powers, Lynn M.; Starlinger, Alois

1992-01-01

Described here are nonlinear regression estimators for the three-Weibull distribution. Issues relating to the bias and invariance associated with these estimators are examined numerically using Monte Carlo simulation methods. The estimators were used to extract parameters from sintered silicon nitride failure data. A reliability analysis was performed on a turbopump blade utilizing the three-parameter Weibull distribution and the estimates from the sintered silicon nitride data.

Off-line tracking of series parameters in distribution systems using AMI data

DOE Office of Scientific and Technical Information (OSTI.GOV)

Williams, Tess L.; Sun, Yannan; Schneider, Kevin

2016-05-01

Electric distribution systems have historically lacked measurement points, and equipment is often operated to its failure point, resulting in customer outages. The widespread deployment of sensors at the distribution level is enabling observability. This paper presents an off-line parameter value tracking procedure that takes advantage of the increasing number of measurement devices being deployed at the distribution level to estimate changes in series impedance parameter values over time. The tracking of parameter values enables non-diurnal and non-seasonal change to be flagged for investigation. The presented method uses an unbalanced Distribution System State Estimation (DSSE) and a measurement residual-based parameter estimationmore » procedure. Measurement residuals from multiple measurement snapshots are combined in order to increase the effective local redundancy and improve the robustness of the calculations in the presence of measurement noise. Data from devices on the primary distribution system and from customer meters, via an AMI system, form the input data set. Results of simulations on the IEEE 13-Node Test Feeder are presented to illustrate the proposed approach applied to changes in series impedance parameters. A 5% change in series resistance elements can be detected in the presence of 2% measurement error when combining less than 1 day of measurement snapshots into a single estimate.« less

Splash erosion in recently-burnt area in North-West Spain

NASA Astrophysics Data System (ADS)

Fernández Raga, María

2013-04-01

Splash erosion is generally acknowledged as the main erosive agent, because it represents the first step in water erosion (Ellison, 1944, Sempere Torres et al., 1994). The impact of raindrops not only modifies the structure of the earth's surface, (Moss, 1991) but also breaks down and emits soil fragments which are later transported over long distances in the case of additional surface runoff processes (Moss and Green, 1983). In the whole process we need to take into account not only the specific kinetic energy associated to each rain event, but also the type of soil and the size of the particles released (Sharma et al 1991), as well as the characteristics of the layer of water formed on the surface (Moss and Green, 1983, Kinnell, 1991, Leguédois et al., 2005). The erosion process is more obvious when it affects vulnerable areas that have recently been devastated by a wildfire. This study has computed the raindrop size, its volume, the fall velocity, and its kinetic energy by means of an optical disdrometer. The data have subsequently been compared with the mass of soil that was splashed and collected in a particular area devastated by an important wildfire on the 17th of May 2012. The splash erosion produced in 6 months has been analyzed. 2. Study Site The data were gathered in the period between the 29th May and the 30th November 2012, in the area of Congosto, in the province of León, Spain. The study zone is part of a transition area between the plain and the mountainous regions. The dominant climate is the continentalized Mediterranean climate, although with more moderate temperatures. In general, in this area we find a wide temperature range (from 12 to 20°C), long and cold winters, short springs and autumns, and short and warm summers. Precipitation is irregularly scattered along the year, and may reach, depending on the area, up to 1,500 mm per year. Intense precipitation events may occur. The area presents a coarse-grained siliceous lithology, that is, quartzite with sandstone and slate, with a soil cover of inceptisol of franc-sandy texture. The vegetation, which is the first defense line against erosion in the area, is limited to holm oaks and pine trees, all of which were virtually eliminated by the virulence of the wildfire in May 2012. 3. Materials and Methods Precipitation was measured using a Thies optical disdrometer which registers raindrop size spectra every minute. This device is described in detail in Bloemink and Lanzinger (2005). The instruments used to carry out this study on splash erosion have been the funnels described in Fernández-Raga 2010. The area affected by the wildfire was divided into 2 sections, one former pine tree area, and another former scrubland area. Five sampling points were installed in each area. Similar control areas were established in the part of land not affected by the fire, with the same type of vegetation, and with another 5 sampling points in each case. In addition, control devices were installed to collect airborne soil. 4. The kinetic energy of rain The kinetic energy of rain was assessed using data obtained by the disdrometer: raindrop size distribution (DSD). This information enables us to compute the mass of the raindrop and its fall velocity (Ryzhkov et al 1999). To compute the mass, we need to know the shape of the drop. The shape of raindrops has been the object of many previous studies (Brandes, 2002, Sansom, 2004). The main conclusion is that drops smaller than 1 mm are spherical, but raindrops with diameters larger than 1 mm take on a shape that resembles more an ellipsoid. Considering that size, we adopt a polynomial equation of degree 12 (Fernández-Raga 2010). 5. Evolution of splash erosion The study has assessed the amount of splash erosion as well as its composition. In addition, the erosion caused has been compared with the regeneration of the vegetation in the area. The results reveal a very slow recovery of the vegetation in the study zone, and a halt in the amount of soil affected by splash erosion until now. 5. Results and Conclusions It was found that the precipitation in Congosto has a nearly exponential drop size distribution (DSD), except for large sizes. It can also be noted that drops between the sizes of 2 and 2.5 mm are the ones that contribute more to the kinetic energy hitting the ground. The comparison between the splash erosion registered and the total kinetic energy in each rain event has led to the following conclusions: • The DSD of precipitation in Congosto follows an exponential or gamma distribution. The energy distribution, on the other hand, is a gamma distribution. • Splash erosion has been found to be very important in the area devastated by the wildfire in the 2 months immediately after the fire. Later, splash erosion decreases, though it remains relatively high despite fewer rain events during the summer. • The vegetation has not recovered at all in the 6 months that followed the wildfire. • The soil analysis reveals a high degree of degradation caused by the wildfire. 6. References Angulo-Martínez, M., Beguería, S., Navas, A. Machín, J. 2012. Splash erosion under natural rainfall on three soil types in NE Spain Geomorphology, 175-176, 38-44. Bloemink, HI and Lanzinger, E., 2005.precipitation type from the thies disdrometer. Wmo technical conference on meteorological and environmental instruments and methods of observations (teco-2005) Bucharest, Romania, 4-7 may, 3. Brandes, e. A., g. Zhang, and j. Vivekanandan, 2002: experiments in rainfall estimation with a polarimetric radar in a subtropical environment. J. Appl. Meteor., 41, 674-685. Ellison, W.D. 1944. Studies of raindrop erosion. Agric. Eng. 25:131 136, 181-182. Fernandez-Raga, M., Fraile, R., Keizer, J.J., Teijeiro, M.E.V., Castro, A., Palencia, C., Calvo, A.I., Koenders, J. and Marques, R.L.D., 2010. The kinetic energy of rain measured with an optical disdrometer: An application to splash erosion. Atmos. Res. 96, 225-240. Kinnell, P.I.A. 1991. The effect of flow depth on sediment transport induced by raindrops impacting shallow flows. Trans. ASAE. 34: 161-168. Leguedois C., S., Malam-Issa O., and Bissonnais Y. Le. 2005. Splash distance and size distributions for various soils. Geoderma, 124, 3-4, 279-292 Moss, A.J., and Green, P.. 1983. Movement of solids in air and water- by raindrop impact. Effects of drop-size and water-depth variations. Austr. J. Soil Res. 21:257-269. Moss, Aj. 1991. Rain impact soil crust.I. Formation on a granite derived soil.Austr. J. Soil Res 29:271-289. Ryzhkov A., Schuur, T., Zrnic, D. and Schönhuber M. 1999, Comparison of radar polarimetric measurements of rainfall with 2D-video disdrometer observations. Preprints, National Radio Science Meeting, 1999, Boulder, CO, USA. Sansom, J. 2004 Rainfall as breakpoints: observations and physically based Markov models. International Precipitation Conference, Quantifying Uncertainties in Precipitation Measurements, Estimates, and Forecasts, Vancouver, Canada. Sempere Torres, D., Porrà, J.M., Creutin, J.D., 1994. A general formulation for raindrop size distribution. Journal of Applied Meteorology 33, 1494-1502. Sharma, P.P., Gupta, S.C. and Rawls. W.J. 1991. Soil detachment by single raindrops of varying kinetic energy. Soil Sci. Soc. Am. J. 55:301-307.

Characterizing and reducing equifinality by constraining a distributed catchment model with regional signatures, local observations, and process understanding

NASA Astrophysics Data System (ADS)

Kelleher, Christa; McGlynn, Brian; Wagener, Thorsten

2017-07-01

Distributed catchment models are widely used tools for predicting hydrologic behavior. While distributed models require many parameters to describe a system, they are expected to simulate behavior that is more consistent with observed processes. However, obtaining a single set of acceptable parameters can be problematic, as parameter equifinality often results in several behavioral sets that fit observations (typically streamflow). In this study, we investigate the extent to which equifinality impacts a typical distributed modeling application. We outline a hierarchical approach to reduce the number of behavioral sets based on regional, observation-driven, and expert-knowledge-based constraints. For our application, we explore how each of these constraint classes reduced the number of behavioral parameter sets and altered distributions of spatiotemporal simulations, simulating a well-studied headwater catchment, Stringer Creek, Montana, using the distributed hydrology-soil-vegetation model (DHSVM). As a demonstrative exercise, we investigated model performance across 10 000 parameter sets. Constraints on regional signatures, the hydrograph, and two internal measurements of snow water equivalent time series reduced the number of behavioral parameter sets but still left a small number with similar goodness of fit. This subset was ultimately further reduced by incorporating pattern expectations of groundwater table depth across the catchment. Our results suggest that utilizing a hierarchical approach based on regional datasets, observations, and expert knowledge to identify behavioral parameter sets can reduce equifinality and bolster more careful application and simulation of spatiotemporal processes via distributed modeling at the catchment scale.

Improving flood forecasting capability of physically based distributed hydrological model by parameter optimization

NASA Astrophysics Data System (ADS)

Chen, Y.; Li, J.; Xu, H.

2015-10-01

Physically based distributed hydrological models discrete the terrain of the whole catchment into a number of grid cells at fine resolution, and assimilate different terrain data and precipitation to different cells, and are regarded to have the potential to improve the catchment hydrological processes simulation and prediction capability. In the early stage, physically based distributed hydrological models are assumed to derive model parameters from the terrain properties directly, so there is no need to calibrate model parameters, but unfortunately, the uncertanties associated with this model parameter deriving is very high, which impacted their application in flood forecasting, so parameter optimization may also be necessary. There are two main purposes for this study, the first is to propose a parameter optimization method for physically based distributed hydrological models in catchment flood forecasting by using PSO algorithm and to test its competence and to improve its performances, the second is to explore the possibility of improving physically based distributed hydrological models capability in cathcment flood forecasting by parameter optimization. In this paper, based on the scalar concept, a general framework for parameter optimization of the PBDHMs for catchment flood forecasting is first proposed that could be used for all PBDHMs. Then, with Liuxihe model as the study model, which is a physically based distributed hydrological model proposed for catchment flood forecasting, the improverd Particle Swarm Optimization (PSO) algorithm is developed for the parameter optimization of Liuxihe model in catchment flood forecasting, the improvements include to adopt the linear decreasing inertia weight strategy to change the inertia weight, and the arccosine function strategy to adjust the acceleration coefficients. This method has been tested in two catchments in southern China with different sizes, and the results show that the improved PSO algorithm could be used for Liuxihe model parameter optimization effectively, and could improve the model capability largely in catchment flood forecasting, thus proven that parameter optimization is necessary to improve the flood forecasting capability of physically based distributed hydrological model. It also has been found that the appropriate particle number and the maximum evolution number of PSO algorithm used for Liuxihe model catchment flood forcasting is 20 and 30, respectively.

Comparision of the different probability distributions for earthquake hazard assessment in the North Anatolian Fault Zone

DOE Office of Scientific and Technical Information (OSTI.GOV)

Yilmaz, Şeyda, E-mail: seydayilmaz@ktu.edu.tr; Bayrak, Erdem, E-mail: erdmbyrk@gmail.com; Bayrak, Yusuf, E-mail: bayrak@ktu.edu.tr

In this study we examined and compared the three different probabilistic distribution methods for determining the best suitable model in probabilistic assessment of earthquake hazards. We analyzed a reliable homogeneous earthquake catalogue between a time period 1900-2015 for magnitude M ≥ 6.0 and estimated the probabilistic seismic hazard in the North Anatolian Fault zone (39°-41° N 30°-40° E) using three distribution methods namely Weibull distribution, Frechet distribution and three-parameter Weibull distribution. The distribution parameters suitability was evaluated Kolmogorov-Smirnov (K-S) goodness-of-fit test. We also compared the estimated cumulative probability and the conditional probabilities of occurrence of earthquakes for different elapsed timemore » using these three distribution methods. We used Easyfit and Matlab software to calculate these distribution parameters and plotted the conditional probability curves. We concluded that the Weibull distribution method was the most suitable than other distribution methods in this region.« less

LOG-NORMAL DISTRIBUTION OF COSMIC VOIDS IN SIMULATIONS AND MOCKS

DOE Office of Scientific and Technical Information (OSTI.GOV)

Russell, E.; Pycke, J.-R., E-mail: er111@nyu.edu, E-mail: jrp15@nyu.edu

2017-01-20

Following up on previous studies, we complete here a full analysis of the void size distributions of the Cosmic Void Catalog based on three different simulation and mock catalogs: dark matter (DM), haloes, and galaxies. Based on this analysis, we attempt to answer two questions: Is a three-parameter log-normal distribution a good candidate to satisfy the void size distributions obtained from different types of environments? Is there a direct relation between the shape parameters of the void size distribution and the environmental effects? In an attempt to answer these questions, we find here that all void size distributions of thesemore » data samples satisfy the three-parameter log-normal distribution whether the environment is dominated by DM, haloes, or galaxies. In addition, the shape parameters of the three-parameter log-normal void size distribution seem highly affected by environment, particularly existing substructures. Therefore, we show two quantitative relations given by linear equations between the skewness and the maximum tree depth, and between the variance of the void size distribution and the maximum tree depth, directly from the simulated data. In addition to this, we find that the percentage of voids with nonzero central density in the data sets has a critical importance. If the number of voids with nonzero central density reaches ≥3.84% in a simulation/mock sample, then a second population is observed in the void size distributions. This second population emerges as a second peak in the log-normal void size distribution at larger radius.« less

Distributed traffic signal control using fuzzy logic

NASA Technical Reports Server (NTRS)

Chiu, Stephen

1992-01-01

We present a distributed approach to traffic signal control, where the signal timing parameters at a given intersection are adjusted as functions of the local traffic condition and of the signal timing parameters at adjacent intersections. Thus, the signal timing parameters evolve dynamically using only local information to improve traffic flow. This distributed approach provides for a fault-tolerant, highly responsive traffic management system. The signal timing at an intersection is defined by three parameters: cycle time, phase split, and offset. We use fuzzy decision rules to adjust these three parameters based only on local information. The amount of change in the timing parameters during each cycle is limited to a small fraction of the current parameters to ensure smooth transition. We show the effectiveness of this method through simulation of the traffic flow in a network of controlled intersections.

Advances in parameter estimation techniques applied to flexible structures

NASA Technical Reports Server (NTRS)

Maben, Egbert; Zimmerman, David C.

1994-01-01

In this work, various parameter estimation techniques are investigated in the context of structural system identification utilizing distributed parameter models and 'measured' time-domain data. Distributed parameter models are formulated using the PDEMOD software developed by Taylor. Enhancements made to PDEMOD for this work include the following: (1) a Wittrick-Williams based root solving algorithm; (2) a time simulation capability; and (3) various parameter estimation algorithms. The parameter estimations schemes will be contrasted using the NASA Mini-Mast as the focus structure.

Application of Statistically Derived CPAS Parachute Parameters

NASA Technical Reports Server (NTRS)

Romero, Leah M.; Ray, Eric S.

2013-01-01

The Capsule Parachute Assembly System (CPAS) Analysis Team is responsible for determining parachute inflation parameters and dispersions that are ultimately used in verifying system requirements. A model memo is internally released semi-annually documenting parachute inflation and other key parameters reconstructed from flight test data. Dispersion probability distributions published in previous versions of the model memo were uniform because insufficient data were available for determination of statistical based distributions. Uniform distributions do not accurately represent the expected distributions since extreme parameter values are just as likely to occur as the nominal value. CPAS has taken incremental steps to move away from uniform distributions. Model Memo version 9 (MMv9) made the first use of non-uniform dispersions, but only for the reefing cutter timing, for which a large number of sample was available. In order to maximize the utility of the available flight test data, clusters of parachutes were reconstructed individually starting with Model Memo version 10. This allowed for statistical assessment for steady-state drag area (CDS) and parachute inflation parameters such as the canopy fill distance (n), profile shape exponent (expopen), over-inflation factor (C(sub k)), and ramp-down time (t(sub k)) distributions. Built-in MATLAB distributions were applied to the histograms, and parameters such as scale (sigma) and location (mu) were output. Engineering judgment was used to determine the "best fit" distribution based on the test data. Results include normal, log normal, and uniform (where available data remains insufficient) fits of nominal and failure (loss of parachute and skipped stage) cases for all CPAS parachutes. This paper discusses the uniform methodology that was previously used, the process and result of the statistical assessment, how the dispersions were incorporated into Monte Carlo analyses, and the application of the distributions in trajectory benchmark testing assessments with parachute inflation parameters, drag area, and reefing cutter timing used by CPAS.

Estimation of distributional parameters for censored trace level water quality data: 1. Estimation techniques

USGS Publications Warehouse

Gilliom, Robert J.; Helsel, Dennis R.

1986-01-01

A recurring difficulty encountered in investigations of many metals and organic contaminants in ambient waters is that a substantial portion of water sample concentrations are below limits of detection established by analytical laboratories. Several methods were evaluated for estimating distributional parameters for such censored data sets using only uncensored observations. Their reliabilities were evaluated by a Monte Carlo experiment in which small samples were generated from a wide range of parent distributions and censored at varying levels. Eight methods were used to estimate the mean, standard deviation, median, and interquartile range. Criteria were developed, based on the distribution of uncensored observations, for determining the best performing parameter estimation method for any particular data set. The most robust method for minimizing error in censored-sample estimates of the four distributional parameters over all simulation conditions was the log-probability regression method. With this method, censored observations are assumed to follow the zero-to-censoring level portion of a lognormal distribution obtained by a least squares regression between logarithms of uncensored concentration observations and their z scores. When method performance was separately evaluated for each distributional parameter over all simulation conditions, the log-probability regression method still had the smallest errors for the mean and standard deviation, but the lognormal maximum likelihood method had the smallest errors for the median and interquartile range. When data sets were classified prior to parameter estimation into groups reflecting their probable parent distributions, the ranking of estimation methods was similar, but the accuracy of error estimates was markedly improved over those without classification.

Estimation of distributional parameters for censored trace level water quality data. 1. Estimation Techniques

DOE Office of Scientific and Technical Information (OSTI.GOV)

Gilliom, R.J.; Helsel, D.R.

1986-02-01

A recurring difficulty encountered in investigations of many metals and organic contaminants in ambient waters is that a substantial portion of water sample concentrations are below limits of detection established by analytical laboratories. Several methods were evaluated for estimating distributional parameters for such censored data sets using only uncensored observations. Their reliabilities were evaluated by a Monte Carlo experiment in which small samples were generated from a wide range of parent distributions and censored at varying levels. Eight methods were used to estimate the mean, standard deviation, median, and interquartile range. Criteria were developed, based on the distribution of uncensoredmore » observations, for determining the best performing parameter estimation method for any particular data det. The most robust method for minimizing error in censored-sample estimates of the four distributional parameters over all simulation conditions was the log-probability regression method. With this method, censored observations are assumed to follow the zero-to-censoring level portion of a lognormal distribution obtained by a least squares regression between logarithms of uncensored concentration observations and their z scores. When method performance was separately evaluated for each distributional parameter over all simulation conditions, the log-probability regression method still had the smallest errors for the mean and standard deviation, but the lognormal maximum likelihood method had the smallest errors for the median and interquartile range. When data sets were classified prior to parameter estimation into groups reflecting their probable parent distributions, the ranking of estimation methods was similar, but the accuracy of error estimates was markedly improved over those without classification.« less

Estimation of distributional parameters for censored trace-level water-quality data

DOE Office of Scientific and Technical Information (OSTI.GOV)

Gilliom, R.J.; Helsel, D.R.

1984-01-01

A recurring difficulty encountered in investigations of many metals and organic contaminants in ambient waters is that a substantial portion of water-sample concentrations are below limits of detection established by analytical laboratories. Several methods were evaluated for estimating distributional parameters for such censored data sets using only uncensored observations. Their reliabilities were evaluated by a Monte Carlo experiment in which small samples were generated from a wide range of parent distributions and censored at varying levels. Eight methods were used to estimate the mean, standard deviation, median, and interquartile range. Criteria were developed, based on the distribution of uncensored observations,more » for determining the best-performing parameter estimation method for any particular data set. The most robust method for minimizing error in censored-sample estimates of the four distributional parameters over all simulation conditions was the log-probability regression method. With this method, censored observations are assumed to follow the zero-to-censoring level portion of a lognormal distribution obtained by a least-squares regression between logarithms of uncensored concentration observations and their z scores. When method performance was separately evaluated for each distributional parameter over all simulation conditions, the log-probability regression method still had the smallest errors for the mean and standard deviation, but the lognormal maximum likelihood method had the smallest errors for the median and interquartile range. When data sets were classified prior to parameter estimation into groups reflecting their probable parent distributions, the ranking of estimation methods was similar, but the accuracy of error estimates was markedly improved over those without classification. 6 figs., 6 tabs.« less

On the Use of the Beta Distribution in Probabilistic Resource Assessments

USGS Publications Warehouse

Olea, R.A.

2011-01-01

The triangular distribution is a popular choice when it comes to modeling bounded continuous random variables. Its wide acceptance derives mostly from its simple analytic properties and the ease with which modelers can specify its three parameters through the extremes and the mode. On the negative side, hardly any real process follows a triangular distribution, which from the outset puts at a disadvantage any model employing triangular distributions. At a time when numerical techniques such as the Monte Carlo method are displacing analytic approaches in stochastic resource assessments, easy specification remains the most attractive characteristic of the triangular distribution. The beta distribution is another continuous distribution defined within a finite interval offering wider flexibility in style of variation, thus allowing consideration of models in which the random variables closely follow the observed or expected styles of variation. Despite its more complex definition, generation of values following a beta distribution is as straightforward as generating values following a triangular distribution, leaving the selection of parameters as the main impediment to practically considering beta distributions. This contribution intends to promote the acceptance of the beta distribution by explaining its properties and offering several suggestions to facilitate the specification of its two shape parameters. In general, given the same distributional parameters, use of the beta distributions in stochastic modeling may yield significantly different results, yet better estimates, than the triangular distribution. ?? 2011 International Association for Mathematical Geology (outside the USA).

Determination of material distribution in heading process of small bimetallic bar

NASA Astrophysics Data System (ADS)

Presz, Wojciech; Cacko, Robert

2018-05-01

The electrical connectors mostly have silver contacts joined by riveting. In order to reduce costs, the core of the contact rivet can be replaced with cheaper material, e.g. copper. There is a wide range of commercially available bimetallic (silver-copper) rivets on the market for the production of contacts. Following that, new conditions in the riveting process are created because the bi-metal object is riveted. In the analyzed example, it is a small size object, which can be placed on the border of microforming. Based on the FEM modeling of the load process of bimetallic rivets with different material distributions, the desired distribution was chosen and the choice was justified. Possible material distributions were parameterized with two parameters referring to desirable distribution characteristics. The parameter: Coefficient of Mutual Interactions of Plastic Deformations and the method of its determination have been proposed. The parameter is determined based of two-parameter stress-strain curves and is a function of these parameters and the range of equivalent strains occurring in the analyzed process. The proposed method was used for the upsetting process of the bimetallic head of the electrical contact. A nomogram was established to predict the distribution of materials in the head of the rivet and the appropriate selection of a pair of materials to achieve the desired distribution.

Bayesian prediction of future ice sheet volume using local approximation Markov chain Monte Carlo methods

NASA Astrophysics Data System (ADS)

Davis, A. D.; Heimbach, P.; Marzouk, Y.

2017-12-01

We develop a Bayesian inverse modeling framework for predicting future ice sheet volume with associated formal uncertainty estimates. Marine ice sheets are drained by fast-flowing ice streams, which we simulate using a flowline model. Flowline models depend on geometric parameters (e.g., basal topography), parameterized physical processes (e.g., calving laws and basal sliding), and climate parameters (e.g., surface mass balance), most of which are unknown or uncertain. Given observations of ice surface velocity and thickness, we define a Bayesian posterior distribution over static parameters, such as basal topography. We also define a parameterized distribution over variable parameters, such as future surface mass balance, which we assume are not informed by the data. Hyperparameters are used to represent climate change scenarios, and sampling their distributions mimics internal variation. For example, a warming climate corresponds to increasing mean surface mass balance but an individual sample may have periods of increasing or decreasing surface mass balance. We characterize the predictive distribution of ice volume by evaluating the flowline model given samples from the posterior distribution and the distribution over variable parameters. Finally, we determine the effect of climate change on future ice sheet volume by investigating how changing the hyperparameters affects the predictive distribution. We use state-of-the-art Bayesian computation to address computational feasibility. Characterizing the posterior distribution (using Markov chain Monte Carlo), sampling the full range of variable parameters and evaluating the predictive model is prohibitively expensive. Furthermore, the required resolution of the inferred basal topography may be very high, which is often challenging for sampling methods. Instead, we leverage regularity in the predictive distribution to build a computationally cheaper surrogate over the low dimensional quantity of interest (future ice sheet volume). Continual surrogate refinement guarantees asymptotic sampling from the predictive distribution. Directly characterizing the predictive distribution in this way allows us to assess the ice sheet's sensitivity to climate variability and change.

Use of the truncated shifted Pareto distribution in assessing size distribution of oil and gas fields

USGS Publications Warehouse

Houghton, J.C.

1988-01-01

The truncated shifted Pareto (TSP) distribution, a variant of the two-parameter Pareto distribution, in which one parameter is added to shift the distribution right and left and the right-hand side is truncated, is used to model size distributions of oil and gas fields for resource assessment. Assumptions about limits to the left-hand and right-hand side reduce the number of parameters to two. The TSP distribution has advantages over the more customary lognormal distribution because it has a simple analytic expression, allowing exact computation of several statistics of interest, has a "J-shape," and has more flexibility in the thickness of the right-hand tail. Oil field sizes from the Minnelusa play in the Powder River Basin, Wyoming and Montana, are used as a case study. Probability plotting procedures allow easy visualization of the fit and help the assessment. ?? 1988 International Association for Mathematical Geology.

A Parameter Communication Optimization Strategy for Distributed Machine Learning in Sensors.

PubMed

Zhang, Jilin; Tu, Hangdi; Ren, Yongjian; Wan, Jian; Zhou, Li; Li, Mingwei; Wang, Jue; Yu, Lifeng; Zhao, Chang; Zhang, Lei

2017-09-21

In order to utilize the distributed characteristic of sensors, distributed machine learning has become the mainstream approach, but the different computing capability of sensors and network delays greatly influence the accuracy and the convergence rate of the machine learning model. Our paper describes a reasonable parameter communication optimization strategy to balance the training overhead and the communication overhead. We extend the fault tolerance of iterative-convergent machine learning algorithms and propose the Dynamic Finite Fault Tolerance (DFFT). Based on the DFFT, we implement a parameter communication optimization strategy for distributed machine learning, named Dynamic Synchronous Parallel Strategy (DSP), which uses the performance monitoring model to dynamically adjust the parameter synchronization strategy between worker nodes and the Parameter Server (PS). This strategy makes full use of the computing power of each sensor, ensures the accuracy of the machine learning model, and avoids the situation that the model training is disturbed by any tasks unrelated to the sensors.

Distributed sensor architecture for intelligent control that supports quality of control and quality of service.

PubMed

Poza-Lujan, Jose-Luis; Posadas-Yagüe, Juan-Luis; Simó-Ten, José-Enrique; Simarro, Raúl; Benet, Ginés

2015-02-25

This paper is part of a study of intelligent architectures for distributed control and communications systems. The study focuses on optimizing control systems by evaluating the performance of middleware through quality of service (QoS) parameters and the optimization of control using Quality of Control (QoC) parameters. The main aim of this work is to study, design, develop, and evaluate a distributed control architecture based on the Data-Distribution Service for Real-Time Systems (DDS) communication standard as proposed by the Object Management Group (OMG). As a result of the study, an architecture called Frame-Sensor-Adapter to Control (FSACtrl) has been developed. FSACtrl provides a model to implement an intelligent distributed Event-Based Control (EBC) system with support to measure QoS and QoC parameters. The novelty consists of using, simultaneously, the measured QoS and QoC parameters to make decisions about the control action with a new method called Event Based Quality Integral Cycle. To validate the architecture, the first five Braitenberg vehicles have been implemented using the FSACtrl architecture. The experimental outcomes, demonstrate the convenience of using jointly QoS and QoC parameters in distributed control systems.

Distributed Sensor Architecture for Intelligent Control that Supports Quality of Control and Quality of Service

PubMed Central

Poza-Lujan, Jose-Luis; Posadas-Yagüe, Juan-Luis; Simó-Ten, José-Enrique; Simarro, Raúl; Benet, Ginés

2015-01-01

This paper is part of a study of intelligent architectures for distributed control and communications systems. The study focuses on optimizing control systems by evaluating the performance of middleware through quality of service (QoS) parameters and the optimization of control using Quality of Control (QoC) parameters. The main aim of this work is to study, design, develop, and evaluate a distributed control architecture based on the Data-Distribution Service for Real-Time Systems (DDS) communication standard as proposed by the Object Management Group (OMG). As a result of the study, an architecture called Frame-Sensor-Adapter to Control (FSACtrl) has been developed. FSACtrl provides a model to implement an intelligent distributed Event-Based Control (EBC) system with support to measure QoS and QoC parameters. The novelty consists of using, simultaneously, the measured QoS and QoC parameters to make decisions about the control action with a new method called Event Based Quality Integral Cycle. To validate the architecture, the first five Braitenberg vehicles have been implemented using the FSACtrl architecture. The experimental outcomes, demonstrate the convenience of using jointly QoS and QoC parameters in distributed control systems. PMID:25723145

Program for Weibull Analysis of Fatigue Data

NASA Technical Reports Server (NTRS)

Krantz, Timothy L.

2005-01-01

A Fortran computer program has been written for performing statistical analyses of fatigue-test data that are assumed to be adequately represented by a two-parameter Weibull distribution. This program calculates the following: (1) Maximum-likelihood estimates of the Weibull distribution; (2) Data for contour plots of relative likelihood for two parameters; (3) Data for contour plots of joint confidence regions; (4) Data for the profile likelihood of the Weibull-distribution parameters; (5) Data for the profile likelihood of any percentile of the distribution; and (6) Likelihood-based confidence intervals for parameters and/or percentiles of the distribution. The program can account for tests that are suspended without failure (the statistical term for such suspension of tests is "censoring"). The analytical approach followed in this program for the software is valid for type-I censoring, which is the removal of unfailed units at pre-specified times. Confidence regions and intervals are calculated by use of the likelihood-ratio method.

Mixture distributions of wind speed in the UAE

NASA Astrophysics Data System (ADS)

Shin, J.; Ouarda, T.; Lee, T. S.

2013-12-01

Wind speed probability distribution is commonly used to estimate potential wind energy. The 2-parameter Weibull distribution has been most widely used to characterize the distribution of wind speed. However, it is unable to properly model wind speed regimes when wind speed distribution presents bimodal and kurtotic shapes. Several studies have concluded that the Weibull distribution should not be used for frequency analysis of wind speed without investigation of wind speed distribution. Due to these mixture distributional characteristics of wind speed data, the application of mixture distributions should be further investigated in the frequency analysis of wind speed. A number of studies have investigated the potential wind energy in different parts of the Arabian Peninsula. Mixture distributional characteristics of wind speed were detected from some of these studies. Nevertheless, mixture distributions have not been employed for wind speed modeling in the Arabian Peninsula. In order to improve our understanding of wind energy potential in Arabian Peninsula, mixture distributions should be tested for the frequency analysis of wind speed. The aim of the current study is to assess the suitability of mixture distributions for the frequency analysis of wind speed in the UAE. Hourly mean wind speed data at 10-m height from 7 stations were used in the current study. The Weibull and Kappa distributions were employed as representatives of the conventional non-mixture distributions. 10 mixture distributions are used and constructed by mixing four probability distributions such as Normal, Gamma, Weibull and Extreme value type-one (EV-1) distributions. Three parameter estimation methods such as Expectation Maximization algorithm, Least Squares method and Meta-Heuristic Maximum Likelihood (MHML) method were employed to estimate the parameters of the mixture distributions. In order to compare the goodness-of-fit of tested distributions and parameter estimation methods for sample wind data, the adjusted coefficient of determination, Bayesian Information Criterion (BIC) and Chi-squared statistics were computed. Results indicate that MHML presents the best performance of parameter estimation for the used mixture distributions. In most of the employed 7 stations, mixture distributions give the best fit. When the wind speed regime shows mixture distributional characteristics, most of these regimes present the kurtotic statistical characteristic. Particularly, applications of mixture distributions for these stations show a significant improvement in explaining the whole wind speed regime. In addition, the Weibull-Weibull mixture distribution presents the best fit for the wind speed data in the UAE.

Accounting for parameter uncertainty in the definition of parametric distributions used to describe individual patient variation in health economic models.

PubMed

Degeling, Koen; IJzerman, Maarten J; Koopman, Miriam; Koffijberg, Hendrik

2017-12-15

Parametric distributions based on individual patient data can be used to represent both stochastic and parameter uncertainty. Although general guidance is available on how parameter uncertainty should be accounted for in probabilistic sensitivity analysis, there is no comprehensive guidance on reflecting parameter uncertainty in the (correlated) parameters of distributions used to represent stochastic uncertainty in patient-level models. This study aims to provide this guidance by proposing appropriate methods and illustrating the impact of this uncertainty on modeling outcomes. Two approaches, 1) using non-parametric bootstrapping and 2) using multivariate Normal distributions, were applied in a simulation and case study. The approaches were compared based on point-estimates and distributions of time-to-event and health economic outcomes. To assess sample size impact on the uncertainty in these outcomes, sample size was varied in the simulation study and subgroup analyses were performed for the case-study. Accounting for parameter uncertainty in distributions that reflect stochastic uncertainty substantially increased the uncertainty surrounding health economic outcomes, illustrated by larger confidence ellipses surrounding the cost-effectiveness point-estimates and different cost-effectiveness acceptability curves. Although both approaches performed similar for larger sample sizes (i.e. n = 500), the second approach was more sensitive to extreme values for small sample sizes (i.e. n = 25), yielding infeasible modeling outcomes. Modelers should be aware that parameter uncertainty in distributions used to describe stochastic uncertainty needs to be reflected in probabilistic sensitivity analysis, as it could substantially impact the total amount of uncertainty surrounding health economic outcomes. If feasible, the bootstrap approach is recommended to account for this uncertainty.

Fisher information and Cramér-Rao lower bound for experimental design in parallel imaging.

PubMed

Bouhrara, Mustapha; Spencer, Richard G

2018-06-01

The Cramér-Rao lower bound (CRLB) is widely used in the design of magnetic resonance (MR) experiments for parameter estimation. Previous work has considered only Gaussian or Rician noise distributions in this calculation. However, the noise distribution for multi-coil acquisitions, such as in parallel imaging, obeys the noncentral χ-distribution under many circumstances. The purpose of this paper is to present the CRLB calculation for parameter estimation from multi-coil acquisitions. We perform explicit calculations of Fisher matrix elements and the associated CRLB for noise distributions following the noncentral χ-distribution. The special case of diffusion kurtosis is examined as an important example. For comparison with analytic results, Monte Carlo (MC) simulations were conducted to evaluate experimental minimum standard deviations (SDs) in the estimation of diffusion kurtosis model parameters. Results were obtained for a range of signal-to-noise ratios (SNRs), and for both the conventional case of Gaussian noise distribution and noncentral χ-distribution with different numbers of coils, m. At low-to-moderate SNR, the noncentral χ-distribution deviates substantially from the Gaussian distribution. Our results indicate that this departure is more pronounced for larger values of m. As expected, the minimum SDs (i.e., CRLB) in derived diffusion kurtosis model parameters assuming a noncentral χ-distribution provided a closer match to the MC simulations as compared to the Gaussian results. Estimates of minimum variance for parameter estimation and experimental design provided by the CRLB must account for the noncentral χ-distribution of noise in multi-coil acquisitions, especially in the low-to-moderate SNR regime. Magn Reson Med 79:3249-3255, 2018. © 2017 International Society for Magnetic Resonance in Medicine. © 2017 International Society for Magnetic Resonance in Medicine.

Remote sensing of environmental particulate pollutants - Optical methods for determinations of size distribution and complex refractive index

NASA Technical Reports Server (NTRS)

Fymat, A. L.

1978-01-01

A unifying approach, based on a generalization of Pearson's differential equation of statistical theory, is proposed for both the representation of particulate size distribution and the interpretation of radiometric measurements in terms of this parameter. A single-parameter gamma-type distribution is introduced, and it is shown that inversion can only provide the dimensionless parameter, r/ab (where r = particle radius, a = effective radius, b = effective variance), at least when the distribution vanishes at both ends. The basic inversion problem in reconstructing the particle size distribution is analyzed, and the existing methods are reviewed (with emphasis on their capabilities) and classified. A two-step strategy is proposed for simultaneously determining the complex refractive index and reconstructing the size distribution of atmospheric particulates.

Comparison of three-parameter probability distributions for representing annual extreme and partial duration precipitation series

NASA Astrophysics Data System (ADS)

Wilks, Daniel S.

1993-10-01

Performance of 8 three-parameter probability distributions for representing annual extreme and partial duration precipitation data at stations in the northeastern and southeastern United States is investigated. Particular attention is paid to fidelity on the right tail, through use of a bootstrap procedure simulating extrapolation on the right tail beyond the data. It is found that the beta-κ distribution best describes the extreme right tail of annual extreme series, and the beta-P distribution is best for the partial duration data. The conventionally employed two-parameter Gumbel distribution is found to substantially underestimate probabilities associated with the larger precipitation amounts for both annual extreme and partial duration data. Fitting the distributions using left-censored data did not result in improved fits to the right tail.

Considering inventory distributions in a stochastic periodic inventory routing system

NASA Astrophysics Data System (ADS)

Yadollahi, Ehsan; Aghezzaf, El-Houssaine

2017-07-01

Dealing with the stochasticity of parameters is one of the critical issues in business and industry nowadays. Supply chain planners have difficulties in forecasting stochastic parameters of a distribution system. Demand rates of customers during their lead time are one of these parameters. In addition, holding a huge level of inventory at the retailers is costly and inefficient. To cover the uncertainty of forecasting demand rates, researchers have proposed the usage of safety stock to avoid stock-out. However, finding the precise level of safety stock depends on forecasting the statistical distribution of demand rates and their variations in different settings among the planning horizon. In this paper the demand rate distributions and its parameters are taken into account for each time period in a stochastic periodic IRP. An analysis of the achieved statistical distribution of the inventory and safety stock level is provided to measure the effects of input parameters on the output indicators. Different values for coefficient of variation are applied to the customers' demand rate in the optimization model. The outcome of the deterministic equivalent model of SPIRP is simulated in form of an illustrative case.

Detonation Performance Testing of LX-19

NASA Astrophysics Data System (ADS)

Vincent, Samuel; Aslam, Tariq; Jackson, Scott

2015-06-01

CL-20 was developed at the Naval Surface Weapons Center at China Lake, CA in the mid 80's. Being less sensitive than PETN, but considerably more powerful than HMX, it is the highest energy and density compound known among organic chemicals. LX-19 was developed at LLNL in the early 90's. It is a high-energy plastic bonded explosive, composed of 95.8 wt% CL-20 and 4.2 wt% Estane binder, and is similar to LX-14 (composed of HMX and Estane), but with greater sensitivity characteristics with use of the more energetic CL-20 explosive. We report detonation performance results for unconfined cylindrical rate sticks of LX-19. The experimental diameter effects are shown, along with detonation front shapes, and reaction zone profiles for different test diameters. This data is critical for calibration to Detonation Shock Dynamics (DSD). LA-UR-15-20672.

Implementing Nonlinear Feedback Controllers Using DNA Strand Displacement Reactions.

PubMed

Sawlekar, Rucha; Montefusco, Francesco; Kulkarni, Vishwesh V; Bates, Declan G

2016-07-01

We show how an important class of nonlinear feedback controllers can be designed using idealized abstract chemical reactions and implemented via DNA strand displacement (DSD) reactions. Exploiting chemical reaction networks (CRNs) as a programming language for the design of complex circuits and networks, we show how a set of unimolecular and bimolecular reactions can be used to realize input-output dynamics that produce a nonlinear quasi sliding mode (QSM) feedback controller. The kinetics of the required chemical reactions can then be implemented as enzyme-free, enthalpy/entropy driven DNA reactions using a toehold mediated strand displacement mechanism via Watson-Crick base pairing and branch migration. We demonstrate that the closed loop response of the nonlinear QSM controller outperforms a traditional linear controller by facilitating much faster tracking response dynamics without introducing overshoots in the transient response. The resulting controller is highly modular and is less affected by retroactivity effects than standard linear designs.

Novel inhibitor against Malassezia globosa LIP1 (SMG1), a potential anti-dandruff target.

PubMed

Guo, Shaohua; Huang, Wenkang; Zhang, Jian; Wang, Yonghua

2015-09-01

Compelling evidence have demonstrated the role of lipase activity in the pathogenicity of Malassezia globosa toward dandruff and seborrheic dermatitis (D/SD). As a representative secreted lipase from M. globosa CBS 7966, Malassezia globosa LIP1 (SMG1) is considered a potential anti-dandruff target. In this study, homology modeling, docking-based virtual screening and in vitro lipase-based assay were integrated to identify the first hit compound against SMG1, with an IC50 of 20 μM against synthetic lipase substrate, and of 0.19 μM when using natural lipase substrate. Evaluation of similar compounds, along with docking, offered information on the binding patterns of the hit compound. This work is expected to serve as a starting point for the rational design of more potent inhibitors against SMG1. Copyright © 2015 Elsevier Ltd. All rights reserved.

NASA Communications Augmentation network

NASA Technical Reports Server (NTRS)

Omidyar, Guy C.; Butler, Thomas E.; Laios, Straton C.

1990-01-01

The NASA Communications (Nascom) Division of the Mission Operations and Data Systems Directorate (MO&DSD) is to undertake a major initiative to develop the Nascom Augmentation (NAUG) network to achieve its long-range service objectives for operational data transport to support the Space Station Freedom Program, the Earth Observing System (EOS), and other projects. The NAUG is the Nascom ground communications network being developed to accommodate the operational traffic of the mid-1990s and beyond. The NAUG network development will be based on the Open Systems Interconnection Reference Model (OSI-RM). This paper describes the NAUG network architecture, subsystems, topology, and services; addresses issues of internetworking the Nascom network with other elements of the Space Station Information System (SSIS); discusses the operations environment. This paper also notes the areas of related research and presents the current conception of how the network will provide broadband services in 1998.

Exploring conformational preferences of alanine tetrapeptide by CCSD(T), MP2, and dispersion-corrected DFT methods

NASA Astrophysics Data System (ADS)

Kang, Young Kee; Park, Hae Sook

2018-06-01

The 129 local minima of the alanine tetrapeptide with relative energy < 10 kcal/mol were identified at the ωB97X-D/6-311++G(d,p) level of theory from initial structures generated by combining nine local minima of each residue. The CCSD(T), MP2, and dispersion-corrected DFT levels of theory with various basis sets were assessed for relative energies of the 24 representative conformations. The best performance was obtained at the double-hybrid DSD-PBEP86-D3BJ/def2-QZVP level of theory with RMSD = 0.12 kcal/mol against the CCSD(T)/CBS-limit energies. The ωB97X-D/def2-QZVP and CAM-B3LYP-D3BJ/def2-QZVP levels of theory can be an alternative level of theory with marginal deviations for conformational study of peptides.

Space-time interface-tracking with topology change (ST-TC)

NASA Astrophysics Data System (ADS)

Takizawa, Kenji; Tezduyar, Tayfun E.; Buscher, Austin; Asada, Shohei

2014-10-01

To address the computational challenges associated with contact between moving interfaces, such as those in cardiovascular fluid-structure interaction (FSI), parachute FSI, and flapping-wing aerodynamics, we introduce a space-time (ST) interface-tracking method that can deal with topology change (TC). In cardiovascular FSI, our primary target is heart valves. The method is a new version of the deforming-spatial-domain/stabilized space-time (DSD/SST) method, and we call it ST-TC. It includes a master-slave system that maintains the connectivity of the "parent" mesh when there is contact between the moving interfaces. It is an efficient, practical alternative to using unstructured ST meshes, but without giving up on the accurate representation of the interface or consistent representation of the interface motion. We explain the method with conceptual examples and present 2D test computations with models representative of the classes of problems we are targeting.

Double Sided-Design of Electrodes Driving Tunable Dielectrophoretic Miniature Lens.

PubMed

Almoallem, Yousuf; Jiang, Hongrui

2017-10-01

We demonstrate the design methodology, geometrical analysis, device fabrication, and testing of a double-sided design (DSD) of tunable-focus dielectrophoretic liquid miniature lenses. This design is intended to reduce the driving voltage for tuning the lens, utilizing a double-sided electrode design that enhances the electric field magnitude. Fabricated devices were tested and measurements on a goniometer showed changes of up to 14° in the contact angle when the dielectrophoretic force was applied under 25 V rms . Correspondingly, the back focal length of the liquid lens changed from 67.1 mm to 14.4 mm when the driving voltage was increased from zero to 25 V rms . The driving voltage was significantly lower than those previously reported with similar device dimensions using single-sided electrode designs. This design allows for a range of both positive and negative menisci dependent on the volume of the lens liquid initially dispensed.

Inheritance of Properties of Normal and Non-Normal Distributions after Transformation of Scores to Ranks

ERIC Educational Resources Information Center

Zimmerman, Donald W.

2011-01-01

This study investigated how population parameters representing heterogeneity of variance, skewness, kurtosis, bimodality, and outlier-proneness, drawn from normal and eleven non-normal distributions, also characterized the ranks corresponding to independent samples of scores. When the parameters of population distributions from which samples were…

Cloud-edge mixing: Direct numerical simulation and observations in Indian Monsoon clouds

NASA Astrophysics Data System (ADS)

Kumar, Bipin; Bera, Sudarsan; Prabha, Thara V.; Grabowski, Wojceich W.

2017-03-01

A direct numerical simulation (DNS) with the decaying turbulence setup has been carried out to study cloud-edge mixing and its impact on the droplet size distribution (DSD) applying thermodynamic conditions observed in monsoon convective clouds over Indian subcontinent during the Cloud Aerosol Interaction and Precipitation Enhancement EXperiment (CAIPEEX). Evaporation at the cloud-edges initiates mixing at small scale and gradually introduces larger-scale fluctuations of the temperature, moisture, and vertical velocity due to droplet evaporation. Our focus is on early evolution of simulated fields that show intriguing similarities to the CAIPEEX cloud observations. A strong dilution at the cloud edge, accompanied by significant spatial variations of the droplet concentration, mean radius, and spectral width, are found in both the DNS and in observations. In DNS, fluctuations of the mean radius and spectral width come from the impact of small-scale turbulence on the motion and evaporation of inertial droplets. These fluctuations decrease with the increase of the volume over which DNS data are averaged, as one might expect. In cloud observations, these fluctuations also come from other processes, such as entrainment/mixing below the observation level, secondary CCN activation, or variations of CCN activation at the cloud base. Despite large differences in the spatial and temporal scales, the mixing diagram often used in entrainment/mixing studies with aircraft data is remarkably similar for both DNS and cloud observations. We argue that the similarity questions applicability of heuristic ideas based on mixing between two air parcels (that the mixing diagram is designed to properly represent) to the evolution of microphysical properties during turbulent mixing between a cloud and its environment.

Methods and means of 3D diffuse Mueller-matrix tomography of depolarizing optically anisotropic biological layers

NASA Astrophysics Data System (ADS)

Dubolazov, O. V.; Ushenko, V. O.; Trifoniuk, L.; Ushenko, Yu. O.; Zhytaryuk, V. G.; Prydiy, O. G.; Grytsyuk, M.; Kushnerik, L.; Meglinskiy, I.

2017-09-01

A new technique of Mueller-matrix mapping of polycrystalline structure of histological sections of biological tissues is suggested. The algorithms of reconstruction of distribution of parameters of linear and circular birefringence of prostate histological sections are found. The interconnections between such distributions and parameters of linear and circular birefringence of prostate tissue histological sections are defined. The comparative investigations of coordinate distributions of phase anisotropy parameters formed by fibrillar networks of prostate tissues of different pathological states (adenoma and carcinoma) are performed. The values and ranges of change of the statistical (moments of the 1st - 4th order) parameters of coordinate distributions of the value of linear and circular birefringence are defined. The objective criteria of cause of Benign and malignant conditions differentiation are determined.

Generation of uniformly distributed dose points for anatomy-based three-dimensional dose optimization methods in brachytherapy.

PubMed

Lahanas, M; Baltas, D; Giannouli, S; Milickovic, N; Zamboglou, N

2000-05-01

We have studied the accuracy of statistical parameters of dose distributions in brachytherapy using actual clinical implants. These include the mean, minimum and maximum dose values and the variance of the dose distribution inside the PTV (planning target volume), and on the surface of the PTV. These properties have been studied as a function of the number of uniformly distributed sampling points. These parameters, or the variants of these parameters, are used directly or indirectly in optimization procedures or for a description of the dose distribution. The accurate determination of these parameters depends on the sampling point distribution from which they have been obtained. Some optimization methods ignore catheters and critical structures surrounded by the PTV or alternatively consider as surface dose points only those on the contour lines of the PTV. D(min) and D(max) are extreme dose values which are either on the PTV surface or within the PTV. They must be avoided for specification and optimization purposes in brachytherapy. Using D(mean) and the variance of D which we have shown to be stable parameters, achieves a more reliable description of the dose distribution on the PTV surface and within the PTV volume than does D(min) and D(max). Generation of dose points on the real surface of the PTV is obligatory and the consideration of catheter volumes results in a realistic description of anatomical dose distributions.

Geometric parameter analysis to predetermine optimal radiosurgery technique for the treatment of arteriovenous malformation

DOE Office of Scientific and Technical Information (OSTI.GOV)

Mestrovic, Ante; Clark, Brenda G.; Department of Medical Physics, British Columbia Cancer Agency, Vancouver, British Columbia

2005-11-01

Purpose: To develop a method of predicting the values of dose distribution parameters of different radiosurgery techniques for treatment of arteriovenous malformation (AVM) based on internal geometric parameters. Methods and Materials: For each of 18 previously treated AVM patients, four treatment plans were created: circular collimator arcs, dynamic conformal arcs, fixed conformal fields, and intensity-modulated radiosurgery. An algorithm was developed to characterize the target and critical structure shape complexity and the position of the critical structures with respect to the target. Multiple regression was employed to establish the correlation between the internal geometric parameters and the dose distribution for differentmore » treatment techniques. The results from the model were applied to predict the dosimetric outcomes of different radiosurgery techniques and select the optimal radiosurgery technique for a number of AVM patients. Results: Several internal geometric parameters showing statistically significant correlation (p < 0.05) with the treatment planning results for each technique were identified. The target volume and the average minimum distance between the target and the critical structures were the most effective predictors for normal tissue dose distribution. The structure overlap volume with the target and the mean distance between the target and the critical structure were the most effective predictors for critical structure dose distribution. The predicted values of dose distribution parameters of different radiosurgery techniques were in close agreement with the original data. Conclusions: A statistical model has been described that successfully predicts the values of dose distribution parameters of different radiosurgery techniques and may be used to predetermine the optimal technique on a patient-to-patient basis.« less

Statistical Parameter Study of the Time Interval Distribution for Nonparalyzable, Paralyzable, and Hybrid Dead Time Models

NASA Astrophysics Data System (ADS)

Syam, Nur Syamsi; Maeng, Seongjin; Kim, Myo Gwang; Lim, Soo Yeon; Lee, Sang Hoon

2018-05-01

A large dead time of a Geiger Mueller (GM) detector may cause a large count loss in radiation measurements and consequently may cause distortion of the Poisson statistic of radiation events into a new distribution. The new distribution will have different statistical parameters compared to the original distribution. Therefore, the variance, skewness, and excess kurtosis in association with the observed count rate of the time interval distribution for well-known nonparalyzable, paralyzable, and nonparalyzable-paralyzable hybrid dead time models of a Geiger Mueller detector were studied using Monte Carlo simulation (GMSIM). These parameters were then compared with the statistical parameters of a perfect detector to observe the change in the distribution. The results show that the behaviors of the statistical parameters for the three dead time models were different. The values of the skewness and the excess kurtosis of the nonparalyzable model are equal or very close to those of the perfect detector, which are ≅2 for skewness, and ≅6 for excess kurtosis, while the statistical parameters in the paralyzable and hybrid model obtain minimum values that occur around the maximum observed count rates. The different trends of the three models resulting from the GMSIM simulation can be used to distinguish the dead time behavior of a GM counter; i.e. whether the GM counter can be described best by using the nonparalyzable, paralyzable, or hybrid model. In a future study, these statistical parameters need to be analyzed further to determine the possibility of using them to determine a dead time for each model, particularly for paralyzable and hybrid models.

SU-E-T-113: Dose Distribution Using Respiratory Signals and Machine Parameters During Treatment

DOE Office of Scientific and Technical Information (OSTI.GOV)

Imae, T; Haga, A; Saotome, N

Purpose: Volumetric modulated arc therapy (VMAT) is a rotational intensity-modulated radiotherapy (IMRT) technique capable of acquiring projection images during treatment. Treatment plans for lung tumors using stereotactic body radiotherapy (SBRT) are calculated with planning computed tomography (CT) images only exhale phase. Purpose of this study is to evaluate dose distribution by reconstructing from only the data such as respiratory signals and machine parameters acquired during treatment. Methods: Phantom and three patients with lung tumor underwent CT scans for treatment planning. They were treated by VMAT while acquiring projection images to derive their respiratory signals and machine parameters including positions ofmore » multi leaf collimators, dose rates and integrated monitor units. The respiratory signals were divided into 4 and 10 phases and machine parameters were correlated with the divided respiratory signals based on the gantry angle. Dose distributions of each respiratory phase were calculated from plans which were reconstructed from the respiratory signals and the machine parameters during treatment. The doses at isocenter, maximum point and the centroid of target were evaluated. Results and Discussion: Dose distributions during treatment were calculated using the machine parameters and the respiratory signals detected from projection images. Maximum dose difference between plan and in treatment distribution was −1.8±0.4% at centroid of target and dose differences of evaluated points between 4 and 10 phases were no significant. Conclusion: The present method successfully evaluated dose distribution using respiratory signals and machine parameters during treatment. This method is feasible to verify the actual dose for moving target.« less

Smooth centile curves for skew and kurtotic data modelled using the Box-Cox power exponential distribution.

PubMed

Rigby, Robert A; Stasinopoulos, D Mikis

2004-10-15

The Box-Cox power exponential (BCPE) distribution, developed in this paper, provides a model for a dependent variable Y exhibiting both skewness and kurtosis (leptokurtosis or platykurtosis). The distribution is defined by a power transformation Y(nu) having a shifted and scaled (truncated) standard power exponential distribution with parameter tau. The distribution has four parameters and is denoted BCPE (mu,sigma,nu,tau). The parameters, mu, sigma, nu and tau, may be interpreted as relating to location (median), scale (approximate coefficient of variation), skewness (transformation to symmetry) and kurtosis (power exponential parameter), respectively. Smooth centile curves are obtained by modelling each of the four parameters of the distribution as a smooth non-parametric function of an explanatory variable. A Fisher scoring algorithm is used to fit the non-parametric model by maximizing a penalized likelihood. The first and expected second and cross derivatives of the likelihood, with respect to mu, sigma, nu and tau, required for the algorithm, are provided. The centiles of the BCPE distribution are easy to calculate, so it is highly suited to centile estimation. This application of the BCPE distribution to smooth centile estimation provides a generalization of the LMS method of the centile estimation to data exhibiting kurtosis (as well as skewness) different from that of a normal distribution and is named here the LMSP method of centile estimation. The LMSP method of centile estimation is applied to modelling the body mass index of Dutch males against age. 2004 John Wiley & Sons, Ltd.

Development of an automated procedure for estimation of the spatial variation of runoff in large river basins

USDA-ARS?s Scientific Manuscript database

The use of distributed parameter models to address water resource management problems has increased in recent years. Calibration is necessary to reduce the uncertainties associated with model input parameters. Manual calibration of a distributed parameter model is a very time consuming effort. There...

The Asymptotic Distribution of Ability Estimates: Beyond Dichotomous Items and Unidimensional IRT Models

ERIC Educational Resources Information Center

Sinharay, Sandip

2015-01-01

The maximum likelihood estimate (MLE) of the ability parameter of an item response theory model with known item parameters was proved to be asymptotically normally distributed under a set of regularity conditions for tests involving dichotomous items and a unidimensional ability parameter (Klauer, 1990; Lord, 1983). This article first considers…

The Impact of Uncertain Physical Parameters on HVAC Demand Response

DOE Office of Scientific and Technical Information (OSTI.GOV)

Sun, Yannan; Elizondo, Marcelo A.; Lu, Shuai

HVAC units are currently one of the major resources providing demand response (DR) in residential buildings. Models of HVAC with DR function can improve understanding of its impact on power system operations and facilitate the deployment of DR technologies. This paper investigates the importance of various physical parameters and their distributions to the HVAC response to DR signals, which is a key step to the construction of HVAC models for a population of units with insufficient data. These parameters include the size of floors, insulation efficiency, the amount of solid mass in the house, and efficiency of the HVAC units.more » These parameters are usually assumed to follow Gaussian or Uniform distributions. We study the effect of uncertainty in the chosen parameter distributions on the aggregate HVAC response to DR signals, during transient phase and in steady state. We use a quasi-Monte Carlo sampling method with linear regression and Prony analysis to evaluate sensitivity of DR output to the uncertainty in the distribution parameters. The significance ranking on the uncertainty sources is given for future guidance in the modeling of HVAC demand response.« less

Do bacterial cell numbers follow a theoretical Poisson distribution? Comparison of experimentally obtained numbers of single cells with random number generation via computer simulation.

PubMed

Koyama, Kento; Hokunan, Hidekazu; Hasegawa, Mayumi; Kawamura, Shuso; Koseki, Shigenobu

2016-12-01

We investigated a bacterial sample preparation procedure for single-cell studies. In the present study, we examined whether single bacterial cells obtained via 10-fold dilution followed a theoretical Poisson distribution. Four serotypes of Salmonella enterica, three serotypes of enterohaemorrhagic Escherichia coli and one serotype of Listeria monocytogenes were used as sample bacteria. An inoculum of each serotype was prepared via a 10-fold dilution series to obtain bacterial cell counts with mean values of one or two. To determine whether the experimentally obtained bacterial cell counts follow a theoretical Poisson distribution, a likelihood ratio test between the experimentally obtained cell counts and Poisson distribution which parameter estimated by maximum likelihood estimation (MLE) was conducted. The bacterial cell counts of each serotype sufficiently followed a Poisson distribution. Furthermore, to examine the validity of the parameters of Poisson distribution from experimentally obtained bacterial cell counts, we compared these with the parameters of a Poisson distribution that were estimated using random number generation via computer simulation. The Poisson distribution parameters experimentally obtained from bacterial cell counts were within the range of the parameters estimated using a computer simulation. These results demonstrate that the bacterial cell counts of each serotype obtained via 10-fold dilution followed a Poisson distribution. The fact that the frequency of bacterial cell counts follows a Poisson distribution at low number would be applied to some single-cell studies with a few bacterial cells. In particular, the procedure presented in this study enables us to develop an inactivation model at the single-cell level that can estimate the variability of survival bacterial numbers during the bacterial death process. Copyright © 2016 Elsevier Ltd. All rights reserved.

Construction and identification of a D-Vine model applied to the probability distribution of modal parameters in structural dynamics

NASA Astrophysics Data System (ADS)

Dubreuil, S.; Salaün, M.; Rodriguez, E.; Petitjean, F.

2018-01-01

This study investigates the construction and identification of the probability distribution of random modal parameters (natural frequencies and effective parameters) in structural dynamics. As these parameters present various types of dependence structures, the retained approach is based on pair copula construction (PCC). A literature review leads us to choose a D-Vine model for the construction of modal parameters probability distributions. Identification of this model is based on likelihood maximization which makes it sensitive to the dimension of the distribution, namely the number of considered modes in our context. To this respect, a mode selection preprocessing step is proposed. It allows the selection of the relevant random modes for a given transfer function. The second point, addressed in this study, concerns the choice of the D-Vine model. Indeed, D-Vine model is not uniquely defined. Two strategies are proposed and compared. The first one is based on the context of the study whereas the second one is purely based on statistical considerations. Finally, the proposed approaches are numerically studied and compared with respect to their capabilities, first in the identification of the probability distribution of random modal parameters and second in the estimation of the 99 % quantiles of some transfer functions.

Implications inferred from anisotropy parameter of proton distributions related to EMIC waves in the inner magnetosphere.

NASA Astrophysics Data System (ADS)

Noh, S. J.; Lee, D. Y.

2017-12-01

In the classic theory of wave-particle resonant interaction, anisotropy parameter of proton distribution is considered as an important factor to determine an instability such as ion cyclotron instability. The particle distribution function is often assumed to be a bi-Maxwellian distribution, for which the anisotropy parameter can be simplified to temperature anisotropy (T⊥/T∥-1) independent of specific energy of particles. In this paper, we studied the proton anisotropy related to EMIC waves using the Van Allen Probes observations in the inner magnetosphere. First, we found that the real velocity distribution of protons is usually not expressed with a simple bi-Maxwellian distribution. Also, we calculated the anisotropy parameter using the exact formula defined by Kennel and Petschek [1966] and investigated the linear instability criterion of them. We found that, for majority of the EMIC wave events, the threshold anisotropy condition for proton cyclotron instability is satisfied in the expected range of resonant energy. We further determined the parallel plasma beta and its inverse relationship with the anisotropy parameter. The inverse relationship exists both during the EMIC wave times and non-EMIC wave times, but with different slopes. Based on this result, we demonstrate that the parallel plasma beta can be a critical factor that determines occurrence of EMIC waves.

Atlas of Relations Between Climatic Parameters and Distributions of Important Trees and Shrubs in North America - Alaska Species and Ecoregions

USGS Publications Warehouse

Thompson, Robert S.; Anderson, Katherine H.; Strickland, Laura E.; Shafer, Sarah L.; Pelltier, Richard T.; Bartlein, Patrick J.

2006-01-01

Climate is the primary factor in controlling the continental-scale distribution of plant species, although the relations between climatic parameters and species' ranges is only now beginning to be quantified. Preceding volumes of this atlas explored the continental-scale relations between climatic parameters and the distributions of woody plant species across all of the continent of North America. This volume presents similar information for important woody species, groups of species, and ecoregions in more detail for the State of Alaska. For these analyses, we constructed a 25-kilometer equal-area grid of modern climatic and bioclimatic parameters for North America from instrumental weather records. We obtained a digital representation of the geographic distribution of each species or ecoregion, either from a published source or by digitizing the published distributions ourselves. The presence or absence of each species or ecoregion was then determined for each point on the 25-kilometer grid, thus providing a basis for comparison of the climatic data with the geographic distribution of each species or ecoregion. The relations between climate and these distributions are presented in graphical and tabular form.

Probability density functions for use when calculating standardised drought indices

NASA Astrophysics Data System (ADS)

Svensson, Cecilia; Prosdocimi, Ilaria; Hannaford, Jamie

2015-04-01

Time series of drought indices like the standardised precipitation index (SPI) and standardised flow index (SFI) require a statistical probability density function to be fitted to the observed (generally monthly) precipitation and river flow data. Once fitted, the quantiles are transformed to a Normal distribution with mean = 0 and standard deviation = 1. These transformed data are the SPI/SFI, which are widely used in drought studies, including for drought monitoring and early warning applications. Different distributions were fitted to rainfall and river flow data accumulated over 1, 3, 6 and 12 months for 121 catchments in the United Kingdom. These catchments represent a range of catchment characteristics in a mid-latitude climate. Both rainfall and river flow data have a lower bound at 0, as rains and flows cannot be negative. Their empirical distributions also tend to have positive skewness, and therefore the Gamma distribution has often been a natural and suitable choice for describing the data statistically. However, after transformation of the data to Normal distributions to obtain the SPIs and SFIs for the 121 catchments, the distributions are rejected in 11% and 19% of cases, respectively, by the Shapiro-Wilk test. Three-parameter distributions traditionally used in hydrological applications, such as the Pearson type 3 for rainfall and the Generalised Logistic and Generalised Extreme Value distributions for river flow, tend to make the transformed data fit better, with rejection rates of 5% or less. However, none of these three-parameter distributions have a lower bound at zero. This means that the lower tail of the fitted distribution may potentially go below zero, which would result in a lower limit to the calculated SPI and SFI values (as observations can never reach into this lower tail of the theoretical distribution). The Tweedie distribution can overcome the problems found when using either the Gamma or the above three-parameter distributions. The Tweedie is a three-parameter distribution which includes the Gamma distribution as a special case. It is bounded below at zero and has enough flexibility to fit most behaviours observed in the data. It does not always outperform the three-parameter distributions, but the rejection rates are similar. In addition, for certain parameter values the Tweedie distribution has a positive mass at zero, which means that ephemeral streams and months with zero rainfall can be modelled. It holds potential for wider application in drought studies in other climates and types of catchment.

A hierarchical Bayesian GEV model for improving local and regional flood quantile estimates

NASA Astrophysics Data System (ADS)

Lima, Carlos H. R.; Lall, Upmanu; Troy, Tara; Devineni, Naresh

2016-10-01

We estimate local and regional Generalized Extreme Value (GEV) distribution parameters for flood frequency analysis in a multilevel, hierarchical Bayesian framework, to explicitly model and reduce uncertainties. As prior information for the model, we assume that the GEV location and scale parameters for each site come from independent log-normal distributions, whose mean parameter scales with the drainage area. From empirical and theoretical arguments, the shape parameter for each site is shrunk towards a common mean. Non-informative prior distributions are assumed for the hyperparameters and the MCMC method is used to sample from the joint posterior distribution. The model is tested using annual maximum series from 20 streamflow gauges located in an 83,000 km2 flood prone basin in Southeast Brazil. The results show a significant reduction of uncertainty estimates of flood quantile estimates over the traditional GEV model, particularly for sites with shorter records. For return periods within the range of the data (around 50 years), the Bayesian credible intervals for the flood quantiles tend to be narrower than the classical confidence limits based on the delta method. As the return period increases beyond the range of the data, the confidence limits from the delta method become unreliable and the Bayesian credible intervals provide a way to estimate satisfactory confidence bands for the flood quantiles considering parameter uncertainties and regional information. In order to evaluate the applicability of the proposed hierarchical Bayesian model for regional flood frequency analysis, we estimate flood quantiles for three randomly chosen out-of-sample sites and compare with classical estimates using the index flood method. The posterior distributions of the scaling law coefficients are used to define the predictive distributions of the GEV location and scale parameters for the out-of-sample sites given only their drainage areas and the posterior distribution of the average shape parameter is taken as the regional predictive distribution for this parameter. While the index flood method does not provide a straightforward way to consider the uncertainties in the index flood and in the regional parameters, the results obtained here show that the proposed Bayesian method is able to produce adequate credible intervals for flood quantiles that are in accordance with empirical estimates.

Estimation of modal parameters using bilinear joint time frequency distributions

NASA Astrophysics Data System (ADS)

Roshan-Ghias, A.; Shamsollahi, M. B.; Mobed, M.; Behzad, M.

2007-07-01

In this paper, a new method is proposed for modal parameter estimation using time-frequency representations. Smoothed Pseudo Wigner-Ville distribution which is a member of the Cohen's class distributions is used to decouple vibration modes completely in order to study each mode separately. This distribution reduces cross-terms which are troublesome in Wigner-Ville distribution and retains the resolution as well. The method was applied to highly damped systems, and results were superior to those obtained via other conventional methods.

Stochastic parameter estimation in nonlinear time-delayed vibratory systems with distributed delay

NASA Astrophysics Data System (ADS)

Torkamani, Shahab; Butcher, Eric A.

2013-07-01

The stochastic estimation of parameters and states in linear and nonlinear time-delayed vibratory systems with distributed delay is explored. The approach consists of first employing a continuous time approximation to approximate the delayed integro-differential system with a large set of ordinary differential equations having stochastic excitations. Then the problem of state and parameter estimation in the resulting stochastic ordinary differential system is represented as an optimal filtering problem using a state augmentation technique. By adapting the extended Kalman-Bucy filter to the augmented filtering problem, the unknown parameters of the time-delayed system are estimated from noise-corrupted, possibly incomplete measurements of the states. Similarly, the upper bound of the distributed delay can also be estimated by the proposed technique. As an illustrative example to a practical problem in vibrations, the parameter, delay upper bound, and state estimation from noise-corrupted measurements in a distributed force model widely used for modeling machine tool vibrations in the turning operation is investigated.

A Parameter Communication Optimization Strategy for Distributed Machine Learning in Sensors

PubMed Central

Zhang, Jilin; Tu, Hangdi; Ren, Yongjian; Wan, Jian; Zhou, Li; Li, Mingwei; Wang, Jue; Yu, Lifeng; Zhao, Chang; Zhang, Lei

2017-01-01

In order to utilize the distributed characteristic of sensors, distributed machine learning has become the mainstream approach, but the different computing capability of sensors and network delays greatly influence the accuracy and the convergence rate of the machine learning model. Our paper describes a reasonable parameter communication optimization strategy to balance the training overhead and the communication overhead. We extend the fault tolerance of iterative-convergent machine learning algorithms and propose the Dynamic Finite Fault Tolerance (DFFT). Based on the DFFT, we implement a parameter communication optimization strategy for distributed machine learning, named Dynamic Synchronous Parallel Strategy (DSP), which uses the performance monitoring model to dynamically adjust the parameter synchronization strategy between worker nodes and the Parameter Server (PS). This strategy makes full use of the computing power of each sensor, ensures the accuracy of the machine learning model, and avoids the situation that the model training is disturbed by any tasks unrelated to the sensors. PMID:28934163

Distribution system model calibration with big data from AMI and PV inverters

DOE PAGES

Peppanen, Jouni; Reno, Matthew J.; Broderick, Robert J.; ...

2016-03-03

Efficient management and coordination of distributed energy resources with advanced automation schemes requires accurate distribution system modeling and monitoring. Big data from smart meters and photovoltaic (PV) micro-inverters can be leveraged to calibrate existing utility models. This paper presents computationally efficient distribution system parameter estimation algorithms to improve the accuracy of existing utility feeder radial secondary circuit model parameters. The method is demonstrated using a real utility feeder model with advanced metering infrastructure (AMI) and PV micro-inverters, along with alternative parameter estimation approaches that can be used to improve secondary circuit models when limited measurement data is available. Lastly, themore » parameter estimation accuracy is demonstrated for both a three-phase test circuit with typical secondary circuit topologies and single-phase secondary circuits in a real mixed-phase test system.« less

Distribution system model calibration with big data from AMI and PV inverters

DOE Office of Scientific and Technical Information (OSTI.GOV)

Peppanen, Jouni; Reno, Matthew J.; Broderick, Robert J.

Efficient management and coordination of distributed energy resources with advanced automation schemes requires accurate distribution system modeling and monitoring. Big data from smart meters and photovoltaic (PV) micro-inverters can be leveraged to calibrate existing utility models. This paper presents computationally efficient distribution system parameter estimation algorithms to improve the accuracy of existing utility feeder radial secondary circuit model parameters. The method is demonstrated using a real utility feeder model with advanced metering infrastructure (AMI) and PV micro-inverters, along with alternative parameter estimation approaches that can be used to improve secondary circuit models when limited measurement data is available. Lastly, themore » parameter estimation accuracy is demonstrated for both a three-phase test circuit with typical secondary circuit topologies and single-phase secondary circuits in a real mixed-phase test system.« less

DOE Office of Scientific and Technical Information (OSTI.GOV)

Knudsen, J.K.; Smith, C.L.

The steps involved to incorporate parameter uncertainty into the Nuclear Regulatory Commission (NRC) accident sequence precursor (ASP) models is covered in this paper. Three different uncertainty distributions (i.e., lognormal, beta, gamma) were evaluated to Determine the most appropriate distribution. From the evaluation, it was Determined that the lognormal distribution will be used for the ASP models uncertainty parameters. Selection of the uncertainty parameters for the basic events is also discussed. This paper covers the process of determining uncertainty parameters for the supercomponent basic events (i.e., basic events that are comprised of more than one component which can have more thanmore » one failure mode) that are utilized in the ASP models. Once this is completed, the ASP model is ready to be utilized to propagate parameter uncertainty for event assessments.« less

Markov Chain Monte Carlo Used in Parameter Inference of Magnetic Resonance Spectra

DOE Office of Scientific and Technical Information (OSTI.GOV)

Hock, Kiel; Earle, Keith

2016-02-06

In this paper, we use Boltzmann statistics and the maximum likelihood distribution derived from Bayes’ Theorem to infer parameter values for a Pake Doublet Spectrum, a lineshape of historical significance and contemporary relevance for determining distances between interacting magnetic dipoles. A Metropolis Hastings Markov Chain Monte Carlo algorithm is implemented and designed to find the optimum parameter set and to estimate parameter uncertainties. In conclusion, the posterior distribution allows us to define a metric on parameter space that induces a geometry with negative curvature that affects the parameter uncertainty estimates, particularly for spectra with low signal to noise.

Hybrid artificial bee colony algorithm for parameter optimization of five-parameter bidirectional reflectance distribution function model.

PubMed

Wang, Qianqian; Zhao, Jing; Gong, Yong; Hao, Qun; Peng, Zhong

2017-11-20

A hybrid artificial bee colony (ABC) algorithm inspired by the best-so-far solution and bacterial chemotaxis was introduced to optimize the parameters of the five-parameter bidirectional reflectance distribution function (BRDF) model. To verify the performance of the hybrid ABC algorithm, we measured BRDF of three kinds of samples and simulated the undetermined parameters of the five-parameter BRDF model using the hybrid ABC algorithm and the genetic algorithm, respectively. The experimental results demonstrate that the hybrid ABC algorithm outperforms the genetic algorithm in convergence speed, accuracy, and time efficiency under the same conditions.

A Hierarchical Bayesian Model for Calibrating Estimates of Species Divergence Times

PubMed Central

Heath, Tracy A.

2012-01-01

In Bayesian divergence time estimation methods, incorporating calibrating information from the fossil record is commonly done by assigning prior densities to ancestral nodes in the tree. Calibration prior densities are typically parametric distributions offset by minimum age estimates provided by the fossil record. Specification of the parameters of calibration densities requires the user to quantify his or her prior knowledge of the age of the ancestral node relative to the age of its calibrating fossil. The values of these parameters can, potentially, result in biased estimates of node ages if they lead to overly informative prior distributions. Accordingly, determining parameter values that lead to adequate prior densities is not straightforward. In this study, I present a hierarchical Bayesian model for calibrating divergence time analyses with multiple fossil age constraints. This approach applies a Dirichlet process prior as a hyperprior on the parameters of calibration prior densities. Specifically, this model assumes that the rate parameters of exponential prior distributions on calibrated nodes are distributed according to a Dirichlet process, whereby the rate parameters are clustered into distinct parameter categories. Both simulated and biological data are analyzed to evaluate the performance of the Dirichlet process hyperprior. Compared with fixed exponential prior densities, the hierarchical Bayesian approach results in more accurate and precise estimates of internal node ages. When this hyperprior is applied using Markov chain Monte Carlo methods, the ages of calibrated nodes are sampled from mixtures of exponential distributions and uncertainty in the values of calibration density parameters is taken into account. PMID:22334343

Precision Parameter Estimation and Machine Learning

NASA Astrophysics Data System (ADS)

Wandelt, Benjamin D.

2008-12-01

I discuss the strategy of ``Acceleration by Parallel Precomputation and Learning'' (AP-PLe) that can vastly accelerate parameter estimation in high-dimensional parameter spaces and costly likelihood functions, using trivially parallel computing to speed up sequential exploration of parameter space. This strategy combines the power of distributed computing with machine learning and Markov-Chain Monte Carlo techniques efficiently to explore a likelihood function, posterior distribution or χ2-surface. This strategy is particularly successful in cases where computing the likelihood is costly and the number of parameters is moderate or large. We apply this technique to two central problems in cosmology: the solution of the cosmological parameter estimation problem with sufficient accuracy for the Planck data using PICo; and the detailed calculation of cosmological helium and hydrogen recombination with RICO. Since the APPLe approach is designed to be able to use massively parallel resources to speed up problems that are inherently serial, we can bring the power of distributed computing to bear on parameter estimation problems. We have demonstrated this with the CosmologyatHome project.

Sequential updating of multimodal hydrogeologic parameter fields using localization and clustering techniques

NASA Astrophysics Data System (ADS)

Sun, Alexander Y.; Morris, Alan P.; Mohanty, Sitakanta

2009-07-01

Estimated parameter distributions in groundwater models may contain significant uncertainties because of data insufficiency. Therefore, adaptive uncertainty reduction strategies are needed to continuously improve model accuracy by fusing new observations. In recent years, various ensemble Kalman filters have been introduced as viable tools for updating high-dimensional model parameters. However, their usefulness is largely limited by the inherent assumption of Gaussian error statistics. Hydraulic conductivity distributions in alluvial aquifers, for example, are usually non-Gaussian as a result of complex depositional and diagenetic processes. In this study, we combine an ensemble Kalman filter with grid-based localization and a Gaussian mixture model (GMM) clustering techniques for updating high-dimensional, multimodal parameter distributions via dynamic data assimilation. We introduce innovative strategies (e.g., block updating and dimension reduction) to effectively reduce the computational costs associated with these modified ensemble Kalman filter schemes. The developed data assimilation schemes are demonstrated numerically for identifying the multimodal heterogeneous hydraulic conductivity distributions in a binary facies alluvial aquifer. Our results show that localization and GMM clustering are very promising techniques for assimilating high-dimensional, multimodal parameter distributions, and they outperform the corresponding global ensemble Kalman filter analysis scheme in all scenarios considered.

Improving flood forecasting capability of physically based distributed hydrological models by parameter optimization

NASA Astrophysics Data System (ADS)

Chen, Y.; Li, J.; Xu, H.

2016-01-01

Physically based distributed hydrological models (hereafter referred to as PBDHMs) divide the terrain of the whole catchment into a number of grid cells at fine resolution and assimilate different terrain data and precipitation to different cells. They are regarded to have the potential to improve the catchment hydrological process simulation and prediction capability. In the early stage, physically based distributed hydrological models are assumed to derive model parameters from the terrain properties directly, so there is no need to calibrate model parameters. However, unfortunately the uncertainties associated with this model derivation are very high, which impacted their application in flood forecasting, so parameter optimization may also be necessary. There are two main purposes for this study: the first is to propose a parameter optimization method for physically based distributed hydrological models in catchment flood forecasting by using particle swarm optimization (PSO) algorithm and to test its competence and to improve its performances; the second is to explore the possibility of improving physically based distributed hydrological model capability in catchment flood forecasting by parameter optimization. In this paper, based on the scalar concept, a general framework for parameter optimization of the PBDHMs for catchment flood forecasting is first proposed that could be used for all PBDHMs. Then, with the Liuxihe model as the study model, which is a physically based distributed hydrological model proposed for catchment flood forecasting, the improved PSO algorithm is developed for the parameter optimization of the Liuxihe model in catchment flood forecasting. The improvements include adoption of the linearly decreasing inertia weight strategy to change the inertia weight and the arccosine function strategy to adjust the acceleration coefficients. This method has been tested in two catchments in southern China with different sizes, and the results show that the improved PSO algorithm could be used for the Liuxihe model parameter optimization effectively and could improve the model capability largely in catchment flood forecasting, thus proving that parameter optimization is necessary to improve the flood forecasting capability of physically based distributed hydrological models. It also has been found that the appropriate particle number and the maximum evolution number of PSO algorithm used for the Liuxihe model catchment flood forecasting are 20 and 30 respectively.