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.

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

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.

On the Use of the Log-Normal Particle Size Distribution to Characterize Global Rain

NASA Technical Reports Server (NTRS)

Meneghini, Robert; Rincon, Rafael; Liao, Liang

2003-01-01

Although most parameterizations of the drop size distributions (DSD) use the gamma function, there are several advantages to the log-normal form, particularly if we want to characterize the large scale space-time variability of the DSD and rain rate. The advantages of the distribution are twofold: the logarithm of any moment can be expressed as a linear combination of the individual parameters of the distribution; the parameters of the distribution are approximately normally distributed. Since all radar and rainfall-related parameters can be written approximately as a moment of the DSD, the first property allows us to express the logarithm of any radar/rainfall variable as a linear combination of the individual DSD parameters. Another consequence is that any power law relationship between rain rate, reflectivity factor, specific attenuation or water content can be expressed in terms of the covariance matrix of the DSD parameters. The joint-normal property of the DSD parameters has applications to the description of the space-time variation of rainfall in the sense that any radar-rainfall quantity can be specified by the covariance matrix associated with the DSD parameters at two arbitrary space-time points. As such, the parameterization provides a means by which we can use the spaceborne radar-derived DSD parameters to specify in part the covariance matrices globally. However, since satellite observations have coarse temporal sampling, the specification of the temporal covariance must be derived from ancillary measurements and models. Work is presently underway to determine whether the use of instantaneous rain rate data from the TRMM Precipitation Radar can provide good estimates of the spatial correlation in rain rate from data collected in 5(sup 0)x 5(sup 0) x 1 month space-time boxes. To characterize the temporal characteristics of the DSD parameters, disdrometer data are being used from the Wallops Flight Facility site where as many as 4 disdrometers have been used to acquire data over a 2 km path. These data should help quantify the temporal form of the covariance matrix at this site.

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.

Analysis of the moments and parameters of a gamma DSD to infer precipitation properties: A convective stratiform discrimination algorithm

NASA Astrophysics Data System (ADS)

Caracciolo, C.; Prodi, F.; Battaglia, A.; Porcu', F.

2006-05-01

Drop size distribution is a fundamental property of rainfall for two main reasons: the shape of the distribution reflects the physics of rain formation processes, and it is of basic importance in determining most parameters used in radar-meteorology. Therefore, several authors have proposed in the past different parameterizations for the drop size distribution (DSD). The present work focuses attention on the gamma DSD properties, assumed to be the most suitable for describing the observed DSD and its variability. The data set comprises about 3 years of data (2001-2004) for about 1900 min of rain, collected in Ferrara in the Po Valley (Northern Italy) by a Joss and Waldvogel (JW) disdrometer. A new method of moments to determine the three gamma DSD parameters is developed and tested; this method involves the fourth, fifth and sixth moments of the DSD, which are less sensitive to the underestimation of small drops in the JW disdrometer. The method has been validated by comparing the observed rainfall rates with the computed ones from the fitted distribution, using two classical expressions for the hydrometeor terminal velocity. The 1-min observed spectra of some representative events that occurred in Ferrara are also presented, showing that with sufficient averaging, the distribution for the Ferrara rainfall can be approximately described by a gamma distribution. The discrimination of convective and stratiform precipitation is also an issue of intense interest. Over the past years, several works have aimed to discriminate between these two precipitation categories, on the basis of different instruments and techniques. The knowledge of the three gamma DSD parameters computed with the new method of moments is exploited to identify some characteristic parameters that give quantitative and useful information on the precipitation type and intensity. First, a key parameter derived from the knowledge of two gamma DSD parameters ( m and Λ), the peak (or modal) diameter Dp, defined as m/ Λ, is identified. A theoretical relationship between the m and Λ parameters is successively derived, conducing to a new convective/stratiform discrimination algorithm: in an m- Λ plot the line (1.635 Λ- m) = 1 can be considered as the discriminator; the stratiform events fall in the upper part, the convective ones in the lower. A classical tropical oceanic convective/stratiform discrimination algorithm is also tested, showing that it is not suitable to correctly discriminate the mid-latitude precipitations analyzed here.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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

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.

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.

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.

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.

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.

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

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.

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

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.

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.

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.

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.

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.

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.

A Framework for the Generation and Dissemination of Drop Size Distribution (DSD) Characteristics Using Multiple Platforms

NASA Technical Reports Server (NTRS)

Wolf, David B.; Tokay, Ali; Petersen, Walt; Williams, Christopher; Gatlin, Patrick; Wingo, Mathew

2010-01-01

Proper characterization of the precipitation drop size distribution (DSD) is integral to providing realistic and accurate space- and ground-based precipitation retrievals. Current technology allows for the development of DSD products from a variety of platforms, including disdrometers, vertical profilers and dual-polarization radars. Up to now, however, the dissemination or availability of such products has been limited to individual sites and/or field campaigns, in a variety of formats, often using inconsistent algorithms for computing the integral DSD parameters, such as the median- and mass-weighted drop diameter, total number concentration, liquid water content, rain rate, etc. We propose to develop a framework for the generation and dissemination of DSD characteristic products using a unified structure, capable of handling the myriad collection of disdrometers, profilers, and dual-polarization radar data currently available and to be collected during several upcoming GPM Ground Validation field campaigns. This DSD super-structure paradigm is an adaptation of the radar super-structure developed for NASA s Radar Software Library (RSL) and RSL_in_IDL. The goal is to provide the DSD products in a well-documented format, most likely NetCDF, along with tools to ingest and analyze the products. In so doing, we can develop a robust archive of DSD products from multiple sites and platforms, which should greatly benefit the development and validation of precipitation retrieval algorithms for GPM and other precipitation missions. An outline of this proposed framework will be provided as well as a discussion of the algorithms used to calculate the DSD parameters.

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

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.

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

Theoretical investigation of mixing in warm clouds – Part 2: Homogeneous mixing

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

Pinsky, Mark; Khain, Alexander; Korolev, Alexei

Evolution of monodisperse and polydisperse droplet size distributions (DSD) during homogeneous mixing is analyzed. Time-dependent universal analytical expressions for supersaturation and liquid water content are derived. For an initial monodisperse DSD, these quantities are shown to depend on a sole non-dimensional parameter. The evolution of moments and moment-related functions in the course of homogeneous evaporation of polydisperse DSD is analyzed using a parcel model. It is shown that the classic conceptual scheme, according to which homogeneous mixing leads to a decrease in droplet mass at constant droplet concentration, is valid only in cases of monodisperse or initially very narrow polydispersemore » DSD. In cases of wide polydisperse DSD, mixing and successive evaporation lead to a decrease of both mass and concentration, so the characteristic droplet sizes remain nearly constant. As this feature is typically associated with inhomogeneous mixing, we conclude that in cases of an initially wide DSD at cloud top, homogeneous mixing is nearly indistinguishable from inhomogeneous mixing.« less

Theoretical investigation of mixing in warm clouds – Part 2: Homogeneous mixing

DOE PAGES

Pinsky, Mark; Khain, Alexander; Korolev, Alexei; ...

2016-07-28

Evolution of monodisperse and polydisperse droplet size distributions (DSD) during homogeneous mixing is analyzed. Time-dependent universal analytical expressions for supersaturation and liquid water content are derived. For an initial monodisperse DSD, these quantities are shown to depend on a sole non-dimensional parameter. The evolution of moments and moment-related functions in the course of homogeneous evaporation of polydisperse DSD is analyzed using a parcel model. It is shown that the classic conceptual scheme, according to which homogeneous mixing leads to a decrease in droplet mass at constant droplet concentration, is valid only in cases of monodisperse or initially very narrow polydispersemore » DSD. In cases of wide polydisperse DSD, mixing and successive evaporation lead to a decrease of both mass and concentration, so the characteristic droplet sizes remain nearly constant. As this feature is typically associated with inhomogeneous mixing, we conclude that in cases of an initially wide DSD at cloud top, homogeneous mixing is nearly indistinguishable from inhomogeneous mixing.« 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.

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.

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.

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.

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

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 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.

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.

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.

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 method to combine spaceborne radar and radiometric observations of precipitation

NASA Astrophysics Data System (ADS)

Munchak, Stephen Joseph

This dissertation describes the development and application of a combined radar-radiometer rainfall retrieval algorithm for the Tropical Rainfall Measuring Mission (TRMM) satellite. A retrieval framework based upon optimal estimation theory is proposed wherein three parameters describing the raindrop size distribution (DSD), ice particle size distribution (PSD), and cloud water path (cLWP) are retrieved for each radar profile. The retrieved rainfall rate is found to be strongly sensitive to the a priori constraints in DSD and cLWP; thus, these parameters are tuned to match polarimetric radar estimates of rainfall near Kwajalein, Republic of Marshall Islands. An independent validation against gauge-tuned radar rainfall estimates at Melbourne, FL shows agreement within 2% which exceeds previous algorithms' ability to match rainfall at these two sites. The algorithm is then applied to two years of TRMM data over oceans to determine the sources of DSD variability. Three correlated sets of variables representing storm dynamics, background environment, and cloud microphysics are found to account for approximately 50% of the variability in the absolute and reflectivity-normalized median drop size. Structures of radar reflectivity are also identified and related to drop size, with these relationships being confirmed by ground-based polarimetric radar data from the North American Monsoon Experiment (NAME). Regional patterns of DSD and the sources of variability identified herein are also shown to be consistent with previous work documenting regional DSD properties. In particular, mid-latitude regions 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. Due to properties of the DSD and rain water/cloud water partitioning that change with column water vapor, it is shown that increases in water vapor in a global warming scenario could lead to slight (1%) underestimates of a rainfall trends by radar but larger overestimates (5%) by radiometer algorithms. Further analyses are performed to compare tropical oceanic mean rainfall rates between the combined algorithm and other sources. The combined algorithm is 15% higher than the version 6 of the 2A25 radar-only algorithm and 6.6% higher than the Global Precipitation Climatology Project (GPCP) estimate for the same time-space domain. Despite being higher than these two sources, the combined total is not inconsistent with estimates of the other components of the energy budget given their uncertainties.

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.

[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.

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

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).

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

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.

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.

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.

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

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

A Three-Parameter Inversion of the Drop Size Distribution Using NASA/TRMM Microwave Link Data

NASA Technical Reports Server (NTRS)

Rincon, Rafael F.; Lang, Roger H.; Meneghini, Robert

2003-01-01

Attenuation measurements at 25 and 38 GHz performed with the NASA/TRMM Microwave Link provide information about the drop size distribution (DSD) along the propagation path. Additional path-average measurements along the Link path, such as a third attenuation measurement or the rain rate from well-calibrated raingauges, can provide further DSD information. This paper explores an inversion procedure for determining simultaneously three parameters of a gamma DSD by using three measurements. Also, some preliminary results obtained using Link data are presented.

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

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.

Radar volume reflectivity estimation using an array of ground-based rainfall drop size detectors

NASA Astrophysics Data System (ADS)

Lane, John; Merceret, Francis; Kasparis, Takis; Roy, D.; Muller, Brad; Jones, W. Linwood

2000-08-01

Rainfall drop size distribution (DSD) measurements made by single disdrometers at isolated ground sites have traditionally been used to estimate the transformation between weather radar reflectivity Z and rainfall rate R. Despite the immense disparity in sampling geometries, the resulting Z-R relation obtained by these single point measurements has historically been important in the study of applied radar meteorology. Simultaneous DSD measurements made at several ground sites within a microscale area may be used to improve the estimate of radar reflectivity in the air volume surrounding the disdrometer array. By applying the equations of motion for non-interacting hydrometers, a volume estimate of Z is obtained from the array of ground based disdrometers by first calculating a 3D drop size distribution. The 3D-DSD model assumes that only gravity and terminal velocity due to atmospheric drag within the sampling volume influence hydrometer dynamics. The sampling volume is characterized by wind velocities, which are input parameters to the 3D-DSD model, composed of vertical and horizontal components. Reflectivity data from four consecutive WSR-88D volume scans, acquired during a thunderstorm near Melbourne, FL on June 1, 1997, are compared to data processed using the 3D-DSD model and data form three ground based disdrometers of a microscale array.

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.

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.

Retrieving Vertical Air Motion and Raindrop Size Distributions from Vertically Pointing Doppler Radars

NASA Astrophysics Data System (ADS)

Williams, C. R.; Chandra, C. V.

2017-12-01

The vertical evolution of falling raindrops is a result of evaporation, breakup, and coalescence acting upon those raindrops. Computing these processes using vertically pointing radar observations is a two-step process. First, the raindrop size distribution (DSD) and vertical air motion need to be estimated throughout the rain shaft. Then, the changes in DSD properties need to be quantified as a function of height. The change in liquid water content is a measure of evaporation, and the change in raindrop number concentration and size are indicators of net breakup or coalescence in the vertical column. The DSD and air motion can be retrieved using observations from two vertically pointing radars operating side-by-side and at two different wavelengths. While both radars are observing the same raindrop distribution, they measure different reflectivity and radial velocities due to Rayleigh and Mie scattering properties. As long as raindrops with diameters greater than approximately 2 mm are in the radar pulse volumes, the Rayleigh and Mie scattering signatures are unique enough to estimate DSD parameters using radars operating at 3- and 35-GHz (Williams et al. 2016). Vertical decomposition diagrams (Williams 2016) are used to explore the processes acting on the raindrops. Specifically, changes in liquid water content with height quantify evaporation or accretion. When the raindrops are not evaporating, net raindrop breakup and coalescence are identified by changes in the total number of raindrops and changes in the DSD effective shape as the raindrops. This presentation will focus on describing the DSD and air motion retrieval method using vertical profiling radar observations from the Department of Energy (DOE) Atmospheric Radiation Measurement (ARM) Southern Great Plains (SGP) central facility in Northern Oklahoma.

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.

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.

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.

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.

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?

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

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.

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

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.

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.

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.

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.

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.

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

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

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.

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.

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

Sensitivity of C-Band Polarimetric Radar-Based Drop Size Distribution Measurements to Maximum Diameter Assumptions

NASA Technical Reports Server (NTRS)

Carey, Lawrence D.; Petersen, Walter A.

2011-01-01

The estimation of rain drop size distribution (DSD) parameters from polarimetric radar observations is accomplished by first establishing a relationship between differential reflectivity (Z(sub dr)) and the central tendency of the rain DSD such as the median volume diameter (D0). Since Z(sub dr) does not provide a direct measurement of DSD central tendency, the relationship is typically derived empirically from rain drop and radar scattering models (e.g., D0 = F[Z (sub dr)] ). Past studies have explored the general sensitivity of these models to temperature, radar wavelength, the drop shape vs. size relation, and DSD variability. Much progress has been made in recent years in measuring the drop shape and DSD variability using surface-based disdrometers, such as the 2D Video disdrometer (2DVD), and documenting their impact on polarimetric radar techniques. In addition to measuring drop shape, another advantage of the 2DVD over earlier impact type disdrometers is its ability to resolve drop diameters in excess of 5 mm. Despite this improvement, the sampling limitations of a disdrometer, including the 2DVD, make it very difficult to adequately measure the maximum drop diameter (D(sub max)) present in a typical radar resolution volume. As a result, D(sub max) must still be assumed in the drop and radar models from which D0 = F[Z(sub dr)] is derived. Since scattering resonance at C-band wavelengths begins to occur in drop diameters larger than about 5 mm, modeled C-band radar parameters, particularly Z(sub dr), can be sensitive to D(sub max) assumptions. In past C-band radar studies, a variety of D(sub max) assumptions have been made, including the actual disdrometer estimate of D(sub max) during a typical sampling period (e.g., 1-3 minutes), D(sub max) = C (where C is constant at values from 5 to 8 mm), and D(sub max) = M*D0 (where the constant multiple, M, is fixed at values ranging from 2.5 to 3.5). The overall objective of this NASA Global Precipitation Measurement Mission (GPM/PMM Science Team)-funded study is to document the sensitivity of DSD measurements, including estimates of D0, from C-band Z(sub dr) and reflectivity to this range of D(sub max) assumptions. For this study, GPM Ground Validation 2DVD's were operated under the scanning domain of the UAHuntsville ARMOR C-band dual-polarimetric radar. Approximately 7500 minutes of DSD 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 DSD's were then used as input to a T-matrix model for computation of polarimetric radar moments at C-band. All necessary model parameterizations, such as temperature, drop shape, and drop fall mode, were fixed at typically accepted values while the D(sub max) assumption was allowed to vary in sensitivity tests. By hypothesizing a DSD model with D(sub max) (fit) from which the empirical fit to D0 = F[Z(sub dr)] was derived via non-linear least squares regression and a separate reference DSD model with D(sub max) (truth), bias and standard error in D0 retrievals were estimated in the presence of Z(sub dr) measurement error and hypothesized mismatch in D(sub max) assumptions. Although the normalized standard error for D0 = F[Z(sub dr)r] can increase slightly (as much as from 11% to 16% for all 7500 DSDs) when the D(sub max) (fit) does not match D(sub max) (truth), the primary impact of uncertainty in D(sub max) is a potential increase in normalized bias error in D0 (from 0% to as much as 10% over all 7500 DSDs, depending on the extent of the mismatch between D(sub max) (fit) and D(sub max) (truth)). For DSDs characterized by large Z(sub dr) (Z(sub dr) > 1.5 to 2.0 dB), the normalized bias error for D0 estimation at C-band is sometimes unacceptably large (> 10%), again depending on the extent of the hypothesized D(sub max) mismatch. Modeled errors in D0 retrievals from Z(sub dr) at C-band are demonstrated in detail and comparedo similar modeled retrieval errors at S-band and X-band where the sensitivity to D(sub max) is expected to be less. The impact of D(sub max) assumptions to the retrieval of other DSD parameters such as Nw, the liquid water content normalized intercept parameter, are also explored. Likely implications for DSD retrievals using C-band polarimetric radar for GPM are assessed by considering current community knowledge regarding D(sub max) and quantifying the statistical distribution of Z(sub dr) from ARMOR over a large variety of meteorological conditions. Based on these results and the prevalence of C-band polarimetric radars worldwide, a call for more emphasis on constraining our observational estimate of D(sub max) within a typical radar resolution volume is made

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.

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.

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.

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.

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.

[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.

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

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.

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.

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.

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.

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

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.

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.

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.

Cross Validation of Rain Drop Size Distribution between GPM and Ground Based Polarmetric radar

NASA Astrophysics Data System (ADS)

Chandra, C. V.; Biswas, S.; Le, M.; Chen, H.

2017-12-01

Dual-frequency precipitation radar (DPR) on board the Global Precipitation Measurement (GPM) core satellite has reflectivity measurements at two independent frequencies, Ku- and Ka- band. Dual-frequency retrieval algorithms have been developed traditionally through forward, backward, and recursive approaches. However, these algorithms suffer from "dual-value" problem when they retrieve medium volume diameter from dual-frequency ratio (DFR) in rain region. To this end, a hybrid method has been proposed to perform raindrop size distribution (DSD) retrieval for GPM using a linear constraint of DSD along rain profile to avoid "dual-value" problem (Le and Chandrasekar, 2015). In the current GPM level 2 algorithm (Iguchi et al. 2017- Algorithm Theoretical Basis Document) the Solver module retrieves a vertical profile of drop size distributionn from dual-frequency observations and path integrated attenuations. The algorithm details can be found in Seto et al. (2013) . On the other hand, ground based polarimetric radars have been used for a long time to estimate drop size distributions (e.g., Gorgucci et al. 2002 ). In addition, coincident GPM and ground based observations have been cross validated using careful overpass analysis. In this paper, we perform cross validation on raindrop size distribution retrieval from three sources, namely the hybrid method, the standard products from the solver module and DSD retrievals from ground polarimetric radars. The results are presented from two NEXRAD radars located in Dallas -Fort Worth, Texas (i.e., KFWS radar) and Melbourne, Florida (i.e., KMLB radar). The results demonstrate the ability of DPR observations to produce DSD estimates, which can be used subsequently to generate global DSD maps. References: Seto, S., T. Iguchi, T. Oki, 2013: The basic performance of a precipitation retrieval algorithm for the Global Precipitation Measurement mission's single/dual-frequency radar measurements. IEEE Transactions on Geoscience and Remote Sensing, 51(12), 5239-5251. Gorgucci, E., Chandrasekar, V., Bringi, V. N., and Scarchilli, G.: Estimation of Raindrop Size Distribution Parameters from Polarimetric Radar Measurements, J. Atmos. Sci., 59, 2373-2384, doi:10.1175/1520-0469(2002)0592.0.CO;2, 2002.

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.

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

Climatological characteristics of raindrop size distributions within a topographically complex area

NASA Astrophysics Data System (ADS)

Suh, S.-H.; You, C.-H.; Lee, D.-I.

2015-04-01

Raindrop size distribution (DSD) characteristics within the complex area of Busan, Korea (35.12° N, 129.10° E) were studied using a Precipitation Occurrence Sensor System (POSS) disdrometer over a four-year period from 24 February 2001 to 24 December 2004. Average DSD parameters in Busan, a mid-latitude site, were compared with corresponding parameters recorded in the high-latitude site of Järvenpää, Finland. Mean values of median drop diameter (D0) and the shape parameter (μ) in Busan are smaller than those in Järvenpää, whereas the mean normalized intercept parameter (Nw) and rainfall rate (R) are higher in Busan. To analyze the climatological DSD characteristics in more detail, the entire period of recorded rainfall was divided into 10 categories with different temporal and spatial scales. When only convective rainfall was considered, mean Dm and Nw values for all these categories converged around a maritime cluster, except for rainfall associated with typhoons. The convective rainfall of a typhoon showed much smaller Dm and larger Nw compared with the other rainfall categories. In terms of diurnal DSD variability, we observe maritime (continental) precipitation during the daytime (DT) (nighttime, NT), which likely results from sea (land) breeze identified through wind direction analysis. These features also appeared in the seasonal diurnal distribution. The DT and NT Probability Density Function (PDF) during the summer was similar to the PDF of the entire study period. However, the DT and NT PDF during the winter season displayed an inverse distribution due to seasonal differences in wind direction.

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

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.

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.

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.

Rain Rate and DSD Retrievals at Kwajalein Atoll

NASA Astrophysics Data System (ADS)

Wolff, David; Marks, David; Tokay, Ali

2010-05-01

The dual-polarization weather radar on Kwajalein Atoll in the Republic of the Marshall Islands (KPOL) is one of the only full-time (24/7) operational S-band dual-polarimetric (DP) radars in the tropics. Using the DP data from KPOL, as well as data from a Joss-Waldvogel disdrometer on Kwajalein Island, algorithms for quality control, as well as calibration of reflectivity and differential reflectivity have been developed and adapted for application in a near real-time operational environment. Observations during light rain and drizzle show that KPOL measurements (since 2006) meet or exceed quality thresholds for these applications (as determined by consensus of the radar community). While the methodology for development of such applications is well documented, tuning of specific algorithms to a particular regime and observed raindrop size distributions requires a comprehensive testing and adjustment period to ensure high quality products. Upon application of these data quality techniques to the KPOL data, we have tested and compared several different rain retrieval algorithms. These include conventional Z-R, DP hybrid techniques, as well as polarimetrically-tuned Z-R described by Bringi et al. 2004. One of the major benefits of the polarimetrically tuned Z-R technique, is its ability to use the DP observations to retrieve key parameters of the drop size distribution (DSD), such as the median drop diameter, and the intercept and shape parameter of the assumed gammaDSD. We will show several such retrievals for different rain systems, as well as their distribution with height below the melting layer. From a physical validation perspective, such DSD parameter retrievals provide an important means to cross-validate microphysical parameterizations in GPM Dual-frequency Precipitation Radar (DPR) and GPM Microwave Imager (GMI) retrieval algorithms.

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.

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.

Theoretical analysis of mixing in liquid clouds – Part 3: Inhomogeneous mixing

DOE PAGES

Pinsky, Mark; Khain, Alexander; Korolev, Alexei

2016-07-28

An idealized diffusion–evaporation model of time-dependent mixing between a cloud volume and a droplet-free volume is analyzed. The initial droplet size distribution (DSD) in the cloud volume is assumed to be monodisperse. It is shown that evolution of the microphysical variables and the final equilibrium state are unambiguously determined by two non-dimensional parameters. The first one is the potential evaporation parameter R, proportional to the ratio of the saturation deficit to the liquid water content in the cloud volume, that determines whether the equilibrium state is reached at 100 % relative humidity, or is characterized by a complete evaporation ofmore » cloud droplets. The second parameter Da is the Damkölher number equal to the ratio of the characteristic mixing time to the phase relaxation time. Parameters R and Da determine the type of mixing. The results are analyzed within a wide range of values of R and Da. It is shown that there is no pure homogeneous mixing, since the first mixing stage is always inhomogeneous. The mixing type can change during the mixing process. Any mixing type leads to formation of a tail of small droplets in DSD and, therefore, to DSD broadening that depends on Da. At large Da, the final DSD dispersion can be as large as 0.2. The total duration of mixing varies from several to 100 phase relaxation time periods, depending on R and Da. The definitions of homogeneous and inhomogeneous types of mixing are reconsidered and clarified, enabling a more precise delimitation between them. The paper also compares the results obtained with those based on the classic mixing concepts.« less

Theoretical analysis of mixing in liquid clouds – Part 3: Inhomogeneous mixing

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

Pinsky, Mark; Khain, Alexander; Korolev, Alexei

An idealized diffusion–evaporation model of time-dependent mixing between a cloud volume and a droplet-free volume is analyzed. The initial droplet size distribution (DSD) in the cloud volume is assumed to be monodisperse. It is shown that evolution of the microphysical variables and the final equilibrium state are unambiguously determined by two non-dimensional parameters. The first one is the potential evaporation parameter R, proportional to the ratio of the saturation deficit to the liquid water content in the cloud volume, that determines whether the equilibrium state is reached at 100 % relative humidity, or is characterized by a complete evaporation ofmore » cloud droplets. The second parameter Da is the Damkölher number equal to the ratio of the characteristic mixing time to the phase relaxation time. Parameters R and Da determine the type of mixing. The results are analyzed within a wide range of values of R and Da. It is shown that there is no pure homogeneous mixing, since the first mixing stage is always inhomogeneous. The mixing type can change during the mixing process. Any mixing type leads to formation of a tail of small droplets in DSD and, therefore, to DSD broadening that depends on Da. At large Da, the final DSD dispersion can be as large as 0.2. The total duration of mixing varies from several to 100 phase relaxation time periods, depending on R and Da. The definitions of homogeneous and inhomogeneous types of mixing are reconsidered and clarified, enabling a more precise delimitation between them. The paper also compares the results obtained with those based on the classic mixing concepts.« less

The multi-parameter remote measurement of rainfall

NASA Technical Reports Server (NTRS)

Atlas, D.; Ulbrich, C. W.; Meneghini, R.

1982-01-01

The measurement of rainfall by remote sensors is investigated. One parameter radar rainfall measurement is limited because both reflectivity and rain rate are dependent on at least two parameters of the drop size distribution (DSD), i.e., representative raindrop size and number concentration. A generalized rain parameter diagram is developed which includes a third distribution parameter, the breadth of the DSD, to better specify rain rate and all possible remote variables. Simulations show the improvement in accuracy attainable through the use of combinations of two and three remote measurables. The spectrum of remote measurables is reviewed. These include path integrated techniques of radiometry and of microwave and optical attenuation.

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.

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.

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.

Past experiences of adults with disorders of sex development.

PubMed

Audí, Laura

2014-01-01

When a human being born with any disorder/difference of sex development (DSD) reaches adulthood, the experience lived may be quite varied, depending partly on the age at diagnosis, the underlying cause, physical and health involvement, family circle, health system care received, societal culture and psychological ability to face the process, etc. As affected persons may suffer not only from diverse types of physical differences, but also difficulties in adapting their lives to the most common social mores, international consensus has long advocated a pluridisciplinary care involving different medical specialities. Although healthcare systems have progressively improved, the physical and psychological experiences of these adults may often have been stressful or traumatic, partly due to the 'rarity or low frequency' of their condition, and also to the fact that the person's sexual life is involved. The creation of support groups by affected individuals and their activities have proved extremely rewarding by improving individual well-being and pushing healthcare systems towards higher standards. In this chapter, we present the work of a patient support group in Spain (objectives, activities and opinions) and reflect present views and past experiences of a number of its adult members.

A general approach to double-moment normalization of drop size distributions

NASA Astrophysics Data System (ADS)

Lee, G. W.; Sempere-Torres, D.; Uijlenhoet, R.; Zawadzki, I.

2003-04-01

Normalization of drop size distributions (DSDs) is re-examined here. First, we present an extension of scaling normalization using one moment of the DSD as a parameter (as introduced by Sempere-Torres et al, 1994) to a scaling normalization using two moments as parameters of the normalization. It is shown that the normalization of Testud et al. (2001) is a particular case of the two-moment scaling normalization. Thus, a unified vision of the question of DSDs normalization and a good model representation of DSDs is given. Data analysis shows that from the point of view of moment estimation least square regression is slightly more effective than moment estimation from the normalized average DSD.

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

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

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

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.

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.

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.

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.

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.

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%).

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.

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

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.

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.

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.

Remote sensing of cloud droplet size distributions in DC3 with the UMBC-LACO Rainbow Polarimetric Imager (RPI)

NASA Astrophysics Data System (ADS)

Buczkowski, S.; Martins, J.; Fernandez-Borda, R.; Cieslak, D.; Hall, J.

2013-12-01

The UMBC Rainbow Polarimetric Imager is a small form factor VIS imaging polarimeter suitable for use on a number of platforms. An optical system based on a Phillips prism with three Bayer filter color detectors, each detecting a separate polarization state, allows simultaneous detection of polarization and spectral information. A Mueller matrix-like calibration scheme corrects for polarization artifacts in the optical train and allows retrieval of the polarization state of incoming light to better than 0.5%. Coupled with wide field of view optics (~90°), RPI can capture images of cloudbows over a wide range of aircraft headings and solar zenith angles for retrieval of cloud droplet size distribution (DSD) parameters. In May-June 2012, RPI was flown in a nadir port on the NASA DC-8 during the DC3 field campaign. We will show examples of cloudbow DSD parameter retrievals from the campaign to demonstrate the efficacy of such a system to terrestrial atmospheric remote sensing. RPI image from DC3 06/15/2012 flight. Left panel is raw image from the RPI 90° camera. Middle panel is Stokes 'q' parameter retrieved from full three camera dataset. Right panel is a horizontal cut in 'q' through the glory. Both middle and right panels clearly show cloudbow features which can be fit to infer cloud DSD parameters.

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.

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

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.

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

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.

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.

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.

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.

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 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.

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.

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.

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.

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.

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.

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.

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.

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 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.

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

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.

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.

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.

Twenty years of endocrinologic treatment in transsexualism: analyzing the role of chromosomal analysis and hormonal profiling in the diagnostic work-up.

PubMed

Auer, Matthias K; Fuss, Johannes; Stalla, Guenter K; Athanasoulia, Anastasia P

2013-10-01

To demonstrate that adequate pubertal history, physical examination, and a basal hormone profile is sufficient to exclude disorders of sexual development (DSD) in adult transsexuals and that chromosomal analysis could be omitted in cases of unremarkable hormonal profile and pubertal history. Retrospective chart analysis. Endocrine outpatient clinic of a psychiatric research institute. A total of 475 subjects (302 male-to-female transsexuals [MtF], 173 female-to-male transsexuals [FtM]). Data from 323 (192 MtF/131 FtM) were collected for hormonal and pubertal abnormalities. Information regarding chromosomal analysis was available for 270 patients (165 MtF/105 FtM). None. Pubertal abnormalities, menstrual cycle, and hormonal irregularities in relation to chromosomal analysis conducted by karyotype or hair root analysis. In the MtF group, 5.2% of the patients reported pubertal irregularities and 5.7% hormonal abnormalities, and in the FtM group 3.8% and 19.1%, respectively. Overall chromosomal abnormality in both groups was 1.5% (2.9% in the FtM and 0.6% in the MtF group). The aneuploidies found included one gonosomal aneuploidy (45,X[10]/47,XXX[6]/46,XX[98]), two Robertsonian translocations (45,XXder(14;22)(q10;q10)), and one Klinefelter syndrome (47,XXY) that had already been diagnosed in puberty. Our data show a low incidence of chromosomal abnormalities and thus question routine chromosomal analysis at the baseline evaluation of transsexualism, and suggest that it be considered only in cases of abnormal history or hormonal examination. Copyright © 2013 American Society for Reproductive Medicine. Published by Elsevier Inc. All rights reserved.

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.

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.

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

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

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.

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.

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.

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

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.

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.

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.

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.

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.

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.

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.

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.

Coupling Detonation Shock Dynamics in a Consistent Manner to Equations of State

NASA Astrophysics Data System (ADS)

Belfield, William

2017-06-01

In hydrocode simulations, detonating high explosives (HE) are often modelled using programmed burn. Each HE cell is assigned a ``burn time'' at which it should begin to behave as HE products in the subsequent simulation. Traditionally, these burn times were calculated using a Huygens construction to propagate the detonation wave at a constant speed corresponding to the planar Chapman-Jouguet (CJ) velocity. The Detonation Shock Dynamics (DSD) model improves upon this approach by treating the local detonation velocity as a function of wave curvature, reflecting that the detonation speed is not constant in reality. However, without alterations being made, this variable detonation velocity is inconsistent with the CJ velocity associated with the HE products equation of state (EOS). Previous work has shown that the inconsistency can be resolved by modifying the HE product EOS, but this treatment is empirical in nature and has only been applied to the JWL EOS. This work investigates different methods to resolve the inconsistency that are applicable both to JWL and to tabular HE product EOS, and their impact on hydrocode simulations.

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

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.

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.

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

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…

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.

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.

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.

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.

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.

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).

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.

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.

Biologically inspired design of feedback control systems implemented using DNA strand displacement reactions.

PubMed

Foo, Mathias; Sawlekar, Rucha; Kulkarni, Vishwesh V; Bates, Declan G

2016-08-01

The use of abstract chemical reaction networks (CRNs) as a modelling and design framework for the implementation of computing and control circuits using enzyme-free, entropy driven DNA strand displacement (DSD) reactions is starting to garner widespread attention in the area of synthetic biology. Previous work in this area has demonstrated the theoretical plausibility of using this approach to design biomolecular feedback control systems based on classical proportional-integral (PI) controllers, which may be constructed from CRNs implementing gain, summation and integrator operators. Here, we propose an alternative design approach that utilises the abstract chemical reactions involved in cellular signalling cycles to implement a biomolecular controller - termed a signalling-cycle (SC) controller. We compare the performance of the PI and SC controllers in closed-loop with a nonlinear second-order chemical process. Our results show that the SC controller outperforms the PI controller in terms of both performance and robustness, and also requires fewer abstract chemical reactions to implement, highlighting its potential usefulness in the construction of biomolecular control circuits.

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.

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

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.

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.

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.

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.

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.

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.

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.

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.

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

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.

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).

Gender Dysphoria in a 62-Year-Old Genetic Female With Congenital Adrenal Hyperplasia.

PubMed

Silveira, Mariana Telles; Knobloch, Felícia; Silva Janovsky, Carolina C P; Kater, Claudio E

2016-10-01

We report a case of gender dysphoria (GD) in a 62-year-old genetic female patient, raising the pros and cons of performing corrective surgery later in life. This 46,XX DSD patient was registered and reared as a girl; CAH was diagnosed late in childhood. Poor adherence to treatment and lack of proper psychological management contributed to evident GD. Living for years as a male, the patient applied for a legitimate male identification document in his late 50s; thereafter, he requested a sex-reassignment surgery "to disguise his female body upon his death." We informed the patient and family about surgery hazards, while analytical therapy allowed the group to evaluate the actual wish for surgery. When the wish was brought up, the role of death urged the group to rethink the course of treatment. During the process, it became clear that the patient's desire for surgery, more than a wish for changing the genitalia, expressed an impulse related to issues of endorsement and acceptance of his male identity. This report raises interesting questions about sexuality in a social context and prompts the idea that sexuality is broader than sex itself, raising new questions on the psychological risks faced when considering a body change after years of living with a disorder of sex development.

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).

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.

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.

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.

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.

Effects of chromosomal sex and hormonal influences on shaping sex differences in brain and behavior: Lessons from cases of disorders of sex development.

PubMed

Bramble, Matthew S; Lipson, Allen; Vashist, Neerja; Vilain, Eric

2017-01-02

Sex differences in brain development and postnatal behavior are determined largely by genetic sex and in utero gonadal hormone secretions. In humans however, determining the weight that each of these factors contributes remains a challenge because social influences should also be considered. Cases of disorders of sex development (DSD) provide unique insight into how mutations in genes responsible for gonadal formation can perturb the subsequent developmental hormonal milieu and elicit changes in normal human brain maturation. Specific forms of DSDs such as complete androgen insensitivity syndrome (CAIS), congenital adrenal hyperplasia (CAH), and 5α-reductase deficiency syndrome have variable effects between males and females, and the developmental outcomes of such conditions are largely dependent on sex chromosome composition. Medical and psychological works focused on CAH, CAIS, and 5α-reductase deficiency have helped form the foundation for understanding the roles of genetic and hormonal factors necessary for guiding human brain development. Here we highlight how the three aforementioned DSDs contribute to brain and behavioral phenotypes that can uniquely affect 46,XY and 46,XX individuals in dramatically different fashions. © 2016 Wiley Periodicals, Inc. © 2016 Wiley Periodicals, Inc.

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.

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.

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.

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.

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.

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

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.

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

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.

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.

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.

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.

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

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.

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.

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

Energies and 2'-Hydroxyl Group Orientations of RNA Backbone Conformations. Benchmark CCSD(T)/CBS Database, Electronic Analysis, and Assessment of DFT Methods and MD Simulations.

PubMed

Mládek, Arnošt; Banáš, Pavel; Jurečka, Petr; Otyepka, Michal; Zgarbová, Marie; Šponer, Jiří

2014-01-14

Sugar-phosphate backbone is an electronically complex molecular segment imparting RNA molecules high flexibility and architectonic heterogeneity necessary for their biological functions. The structural variability of RNA molecules is amplified by the presence of the 2'-hydroxyl group, capable of forming multitude of intra- and intermolecular interactions. Bioinformatics studies based on X-ray structure database revealed that RNA backbone samples at least 46 substates known as rotameric families. The present study provides a comprehensive analysis of RNA backbone conformational preferences and 2'-hydroxyl group orientations. First, we create a benchmark database of estimated CCSD(T)/CBS relative energies of all rotameric families and test performance of dispersion-corrected DFT-D3 methods and molecular mechanics in vacuum and in continuum solvent. The performance of the DFT-D3 methods is in general quite satisfactory. The B-LYP-D3 method provides the best trade-off between accuracy and computational demands. B3-LYP-D3 slightly outperforms the new PW6B95-D3 and MPW1B95-D3 and is the second most accurate density functional of the study. The best agreement with CCSD(T)/CBS is provided by DSD-B-LYP-D3 double-hybrid functional, although its large-scale applications may be limited by high computational costs. Molecular mechanics does not reproduce the fine energy differences between the RNA backbone substates. We also demonstrate that the differences in the magnitude of the hyperconjugation effect do not correlate with the energy ranking of the backbone conformations. Further, we investigated the 2'-hydroxyl group orientation preferences. For all families, we conducted a QM and MM hydroxyl group rigid scan in gas phase and solvent. We then carried out set of explicit solvent MD simulations of folded RNAs and analyze 2'-hydroxyl group orientations of different backbone families in MD. The solvent energy profiles determined primarily by the sugar pucker match well with the distribution data derived from the simulations. The QM and MM energy profiles predict the same 2'-hydroxyl group orientation preferences. Finally, we demonstrate that the high energy of unfavorable and rarely sampled 2'-hydroxyl group orientations can be attributed to clashes between occupied orbitals.

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.

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.

The CAG repeat polymorphism in the Androgen receptor gene modifies the risk for hypospadias in Caucasians

PubMed Central

2012-01-01

Background Hypospadias is a birth defect of the urethra in males, and a milder form of 46,XY disorder of sexual development (DSD). The disease is characterized by a ventrally placed urinary opening due to a premature fetal arrest of the urethra development. Moreover, the Androgen receptor (AR) gene has an essential role in the hormone-dependent stage of sexual development. In addition, longer AR polyglutamine repeat lengths encoded by CAG repeats are associated with lower transcriptional activity in vitro. In the present study, we aimed at investigating the role of the CAG repeat length in the AR gene in hypospadias cases as compared to the controls. Our study included 211 hypospadias and 208 controls of Caucasian origin. Methods We amplified the CAG repeat region with PCR, and calculated the difference in the mean CAG repeat length between the hypospadias and control group using the T-test for independent groups. Results We detected a significant increase of the CAG repeat length in the hypospadias cases when compared to the controls (contrast estimate: 2.29, 95% Confidence Interval (1.73-2.84); p-value: 0.001). In addition, the odds ratios between the hypospadias and controls revealed that the hypospadias cases are two to 3 times as likely to have longer CAG repeats than a shorter length for each repeat length investigated. Conclusions We have investigated the largest number of hypospadias cases with regards to the CAG repeat length, and we provide evidence that a higher number of the CAG repeat sequence in the AR gene have a clear effect on the risk of hypospadias in Caucasians. PMID:23167717

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

What can we learn about dispersion from the conformer surface of n-pentane?

PubMed

Martin, Jan M L

2013-04-11

In earlier work [Gruzman, D. ; Karton, A.; Martin, J. M. L. J. Phys. Chem. A 2009, 113, 11974], we showed that conformer energies in alkanes (and other systems) are highly dispersion-driven and that uncorrected DFT functionals fail badly at reproducing them, while simple empirical dispersion corrections tend to overcorrect. To gain greater insight into the nature of the phenomenon, we have mapped the torsional surface of n-pentane to 10-degree resolution at the CCSD(T)-F12 level near the basis set limit. The data obtained have been decomposed by order of perturbation theory, excitation level, and same-spin vs opposite-spin character. A large number of approximate electronic structure methods have been considered, as well as several empirical dispersion corrections. Our chief conclusions are as follows: (a) the effect of dispersion is dominated by same-spin correlation (or triplet-pair correlation, from a different perspective); (b) singlet-pair correlation is important for the surface, but qualitatively very dissimilar to the dispersion component; (c) single and double excitations beyond third order are essentially unimportant for this surface; (d) connected triple excitations do play a role but are statistically very similar to the MP2 singlet-pair correlation; (e) the form of the damping function is crucial for good performance of empirical dispersion corrections; (f) at least in the lower-energy regions, SCS-MP2 and especially MP2.5 perform very well; (g) novel spin-component scaled double hybrid functionals such as DSD-PBEP86-D2 acquit themselves very well for this problem.

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.

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.

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

Molecular Diagnosis of 5α-Reductase Type II Deficiency in Brazilian Siblings with 46,XY Disorder of Sex Development

PubMed Central

de Calais, Flávia Leme; Soardi, Fernanda Caroline; Petroli, Reginaldo José; Lusa, Ana Letícia Gori; de Paiva e Silva, Roberto Benedito; Maciel-Guerra, Andréa Trevas; Guerra-Júnior, Gil; de Mello, Maricilda Palandi

2011-01-01

The steroid 5α-reductase type II enzyme catalyzes the conversion of testosterone (T) to dihydrotestosterone (DHT), and its deficiency leads to undervirilization in 46,XY individuals, due to an impairment of this conversion in genital tissues. Molecular analysis in the steroid 5α-reductase type II gene (SRD5A2) was performed in two 46,XY female siblings. SRD5A2 gene sequencing revealed that the patients were homozygous for p.Gln126Arg missense mutation, which results from the CGA > CAA nucleotide substitution. The molecular result confirmed clinical diagnosis of 46,XY disorder of sex development (DSD) for the older sister and directed the investigation to other family members. Studies on SRD5A2 protein structure showed severe changes at NADPH binding region indicating that structural modeling analysis can be useful to evaluate the deleterious role of a mutation as causing 5α-reductase type II enzyme deficiency. PMID:22272144

Gener: a minimal programming module for chemical controllers based on DNA strand displacement

PubMed Central

Kahramanoğulları, Ozan; Cardelli, Luca

2015-01-01

Summary: Gener is a development module for programming chemical controllers based on DNA strand displacement. Gener is developed with the aim of providing a simple interface that minimizes the opportunities for programming errors: Gener allows the user to test the computations of the DNA programs based on a simple two-domain strand displacement algebra, the minimal available so far. The tool allows the user to perform stepwise computations with respect to the rules of the algebra as well as exhaustive search of the computation space with different options for exploration and visualization. Gener can be used in combination with existing tools, and in particular, its programs can be exported to Microsoft Research’s DSD tool as well as to LaTeX. Availability and implementation: Gener is available for download at the Cosbi website at http://www.cosbi.eu/research/prototypes/gener as a windows executable that can be run on Mac OS X and Linux by using Mono. Contact: ozan@cosbi.eu PMID:25957353

Gener: a minimal programming module for chemical controllers based on DNA strand displacement.

PubMed

Kahramanoğulları, Ozan; Cardelli, Luca

2015-09-01

: Gener is a development module for programming chemical controllers based on DNA strand displacement. Gener is developed with the aim of providing a simple interface that minimizes the opportunities for programming errors: Gener allows the user to test the computations of the DNA programs based on a simple two-domain strand displacement algebra, the minimal available so far. The tool allows the user to perform stepwise computations with respect to the rules of the algebra as well as exhaustive search of the computation space with different options for exploration and visualization. Gener can be used in combination with existing tools, and in particular, its programs can be exported to Microsoft Research's DSD tool as well as to LaTeX. Gener is available for download at the Cosbi website at http://www.cosbi.eu/research/prototypes/gener as a windows executable that can be run on Mac OS X and Linux by using Mono. ozan@cosbi.eu. © The Author 2015. Published by Oxford University Press.

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

[Improvement of therapeutic environment--effort to establish the medical center for GID in a general hospital].

PubMed

Namba, Yuzaburo

2012-01-01

Treatment for gender identity disorder (GID) should be done in cooperation with psychologist, gynecologist, urologist, plastic surgeon and extramural scholars as a team treatment. And if possible, it should be a comprehensive treatment with supports of a social worker, a coordinator and an expert nurse. The ethical committee for individual GID patient treatment has already dissolved according to the third edition of the guideline. We call the therapeutic team Okayama University Hospital Gender Center. It treats not only GID patients, but also gender associated diseases such as disorders of sex development (DSD). Unfortunately, there are not so many institutions which meet our conditions throughout the country. In the present circumstances we can't go along with their needs. So many GID patients go abroad and have Sex reassignment surgery (SRS). To solve this problem national insurance for SRS should be approved as soon as possible and many institutes should start GID treatment.

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.

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

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.

Explicitly correlated benchmark calculations on C8H8 isomer energy separations: how accurate are DFT, double-hybrid, and composite ab initio procedures?

NASA Astrophysics Data System (ADS)

Karton, Amir; Martin, Jan M. L.

2012-10-01

Accurate isomerization energies are obtained for a set of 45 C8H8 isomers by means of the high-level, ab initio W1-F12 thermochemical protocol. The 45 isomers involve a range of hydrocarbon functional groups, including (linear and cyclic) polyacetylene, polyyne, and cumulene moieties, as well as aromatic, anti-aromatic, and highly-strained rings. Performance of a variety of DFT functionals for the isomerization energies is evaluated. This proves to be a challenging test: only six of the 56 tested functionals attain root mean square deviations (RMSDs) below 3 kcal mol-1 (the performance of MP2), namely: 2.9 (B972-D), 2.8 (PW6B95), 2.7 (B3PW91-D), 2.2 (PWPB95-D3), 2.1 (ωB97X-D), and 1.2 (DSD-PBEP86) kcal mol-1. Isomers involving highly-strained fused rings or long cumulenic chains provide a 'torture test' for most functionals. Finally, we evaluate the performance of composite procedures (e.g. G4, G4(MP2), CBS-QB3, and CBS-APNO), as well as that of standard ab initio procedures (e.g. MP2, SCS-MP2, MP4, CCSD, and SCS-CCSD). Both connected triples and post-MP4 singles and doubles are important for accurate results. SCS-MP2 actually outperforms MP4(SDQ) for this problem, while SCS-MP3 yields similar performance as CCSD and slightly bests MP4. All the tested empirical composite procedures show excellent performance with RMSDs below 1 kcal mol-1.

Pre-treatment of pyridine wastewater by new cathodic-anodic-electrolysis packing.

PubMed

Jin, Yang; Yue, Qinyan; Yang, Kunlun; Wu, Suqing; Li, Shengjie; Gao, Baoyu; Gao, Yuan

2018-01-01

A novel cathodic-anodic-electrolysis packing (CAEP) used in the treatment of pyridine wastewater was researched, which mainly consisted of 4,4'-diamino-2,2'-disulfonic acid (DSD acid) industrial iron sludge. The physical properties and morphology of the packing were studied. The CAEP was used in a column reactor during the pretreatment of pyridine wastewater. The influence of pH, hydraulic retention time (HRT), the air-liquid ratio (A/L) and the initial concentration of pyridine were investigated by measuring the removal of total organic carbon (TOC) and pyridine. The characterization results showed that the bulk density, grain density, water absorption percentage and specific surface area were 921kg/m 3 , 1086kg/m 3 , 25% and 29.89m 2 /g, respectively; the removal of TOC and pyridine could reach 50% and 58% at the optimal experimental conditions (pH=3, HRT=8hr, A/L=2). Notably, the surface of the packing was renewed constantly during the running of the filter, and the handling capacity was stable after running for three months. Copyright © 2017. Published by Elsevier B.V.

A rare case of 46, XX SRY-negative male with approximately 74-kb duplication in a region upstream of SOX9.

PubMed

Xiao, Bing; Ji, Xing; Xing, Ya; Chen, Ying-Wei; Tao, Jiong

2013-12-01

The 46, XX male disorder of sex development (DSD) is a rare genetic condition. Here, we report the case of a 46, XX SRY-negative male with complete masculinization. The coding region and exon/intron boundaries of the DAX1, SOX9 and RSPO1 genes were sequenced, and no mutations were detected. Using whole genome array analysis and real-time PCR, we identified a approximately 74-kb duplication in a region approximately 510-584 kb upstream of SOX9 (chr17:69,533,305-69,606,825, hg19). Combined with the results of previous studies, the minimum critical region associated with gonadal development is a 67-kb region located 584-517 kb upstream of SOX9. The amplification of this region might lead to SOX9 overexpression, causing female-to-male sex reversal. Gonadal-specific enhancers in the region upstream of SOX9 may activate the SOX9 expression through long-range regulation, thus triggering testicular differentiation. Copyright © 2013 Elsevier Masson SAS. All rights reserved.

Steroidogenic factor-1 (SF-1, NR5A1) and human disease

PubMed Central

Ferraz-de-Souza, Bruno; Lin, Lin; Achermann, John C.

2011-01-01

Steroidogenic factor-1 (SF-1, Ad4BP, encoded by NR5A1) is a key regulator of adrenal and reproductive development and function. Based upon the features found in Nr5a1 null mice, initial attempts to identify SF-1 changes in humans focused on those rare individuals with primary adrenal failure, a 46,XY karyotype, complete gonadal dysgenesis and Müllerian structures. Although alterations affecting DNA-binding of SF-1 were found in two such cases, disruption of SF-1 is not commonly found in patients with adrenal failure. In contrast, it is emerging that variations in SF-1 can be found in association with a range of human reproductive phenotypes such as 46,XY disorders of sex development (DSD), hypospadias, anorchia, male factor infertility, or primary ovarian insufficiency in women. Overexpression or overactivity of SF-1 is also reported in some adrenal tumors or endometriosis. Therefore, the clinical spectrum of phenotypes associated with variations in SF-1 is expanding and the importance of this nuclear receptor in human endocrine disease is now firmly established. PMID:21078366

Frequency and zero-point vibrational energy scale factors for double-hybrid density functionals (and other selected methods): can anharmonic force fields be avoided?

PubMed

Kesharwani, Manoj K; Brauer, Brina; Martin, Jan M L

2015-03-05

We have obtained uniform frequency scaling factors λ(harm) (for harmonic frequencies), λ(fund) (for fundamentals), and λ(ZPVE) (for zero-point vibrational energies (ZPVEs)) for the Weigend-Ahlrichs and other selected basis sets for MP2, SCS-MP2, and a variety of DFT functionals including double hybrids. For selected levels of theory, we have also obtained scaling factors for true anharmonic fundamentals and ZPVEs obtained from quartic force fields. For harmonic frequencies, the double hybrids B2PLYP, B2GP-PLYP, and DSD-PBEP86 clearly yield the best performance at RMSD = 10-12 cm(-1) for def2-TZVP and larger basis sets, compared to 5 cm(-1) at the CCSD(T) basis set limit. For ZPVEs, again, the double hybrids are the best performers, reaching root-mean-square deviations (RMSDs) as low as 0.05 kcal/mol, but even mainstream functionals like B3LYP can get down to 0.10 kcal/mol. Explicitly anharmonic ZPVEs only are marginally more accurate. For fundamentals, however, simple uniform scaling is clearly inadequate.

Genital surgery for disorders of sex development: implementing a shared decision-making approach.

PubMed

Karkazis, Katrina; Tamar-Mattis, Anne; Kon, Alexander A

2010-08-01

Ongoing controversy surrounds early genital surgery for children with disorders of sex development, making decisions about these procedures extraordinarily complex. Professional organizations have encouraged healthcare providers to adopt shared decision-making due to its broad potential to improve the decision-making process, perhaps most so when data are lacking, when there is no clear "best-choice" treatment, when decisions involve more than one choice, where each choice has both advantages and disadvantages, and where the ranking of options depends heavily on the decision-maker's values. We present a 6-step model for shared decision-making in decisions about genital surgery for disorders of sex development: (1) Set the stage and develop an appropriate team; (2) Establish preferences for information and roles in decision-making; (3) Perceive and address emotions; (4) Define concerns and values; (5) Identify options and present evidence; and (6) Share responsibility for making a decision. As long as controversy persists regarding surgery for DSD, an SDM process can facilitate the increased sharing of relevant information essential for making important health care decisions.

Radiological Evaluation of Ambiguous Genitalia with Various Imaging Modalities

NASA Astrophysics Data System (ADS)

Ravi, N.; Bindushree, Kadakola

2012-07-01

Disorders of sex development (DSDs) are congenital conditions in which the development of chromosomal, gonadal, or anatomic sex is atypical. These can be classified broadly into four categories on the basis of gonadal histologic features: female pseudohermaphroditism (46,XX with two ovaries); male pseudohermaphroditism (46,XY with two testes); true hermaphroditism (ovotesticular DSD) (both ovarian and testicular tissues); and gonadal dysgenesis, either mixed (a testis and a streak gonad) or pure (bilateral streak gonads). Imaging plays an important role in demonstrating the anatomy and associated anomalies. Ultrasonography is the primary modality for demonstrating internal organs and magnetic resonance imaging is used as an adjunct modality to assess for internal gonads and genitalia. Early and appropriate gender assignment is necessary for healthy physical and psychologic development of children with ambiguous genitalia. Gender assignment can be facilitated with a team approach that involves a pediatric endocrinologist, geneticist, urologist, psychiatrist, social worker, neonatologist, nurse, and radiologist, allowing timely diagnosis and proper management. We describe case series on ambiguous genitalia presented to our department who were evaluated with multiple imaging modalities.

Fluorescence Resonance Energy Transfer-Based Photonic Circuits Using Single-Stranded Tile Self-Assembly and DNA Strand Displacement.

PubMed

Zhang, Xuncai; Ying, Niu; Shen, Chaonan; Cui, Guangzhao

2017-02-01

Structural DNA nanotechnology has great potential in the fabrication of complicated nanostructures and devices capable of bio-sensing and logic function. A variety of nanostructures with desired shapes have been created in the past few decades. But the application of nanostructures remains to be fully studied. Here, we present a novel biological information processing system constructed on a self-assembled, spatially addressable single-stranded tile (SST) nanostructure as DNA nano-manipulation platform that created by SST self-assembly technology. Utilizing DNA strand displacement technology, the fluorescent dye that is pre-assembled in the nano-manipulation platform is transferred from the original position to the destination, which can achieve photonic logic circuits by FRET signal cascades, including logic AND, OR, and NOT gates. And this transfer process is successfully validated by visual DSD software. The transfer process proposed in this study may provide a novel method to design complicated biological information processing system constructed on a SST nanostructure, and can be further used to develop intelligent delivery of drug molecules in vivo.

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.

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 XSD-Builder Specification Language—Toward a Semantic View of XML Schema Definition

NASA Astrophysics Data System (ADS)

Fong, Joseph; Cheung, San Kuen

In the present database market, XML database model is a main structure for the forthcoming database system in the Internet environment. As a conceptual schema of XML database, XML Model has its limitation on presenting its data semantics. System analyst has no toolset for modeling and analyzing XML system. We apply XML Tree Model (shown in Figure 2) as a conceptual schema of XML database to model and analyze the structure of an XML database. It is important not only for visualizing, specifying, and documenting structural models, but also for constructing executable systems. The tree model represents inter-relationship among elements inside different logical schema such as XML Schema Definition (XSD), DTD, Schematron, XDR, SOX, and DSD (shown in Figure 1, an explanation of the terms in the figure are shown in Table 1). The XSD-Builder consists of XML Tree Model, source language, translator, and XSD. The source language is called XSD-Source which is mainly for providing an environment with concept of user friendliness while writing an XSD. The source language will consequently be translated by XSD-Translator. Output of XSD-Translator is an XSD which is our target and is called as an object language.

Shifting syndromes: Sex chromosome variations and intersex classifications

PubMed Central

Griffiths, David Andrew

2018-01-01

The 2006 ‘Consensus statement on management of intersex disorders’ recommended moving to a new classification of intersex variations, framed in terms of ‘disorders of sex development’ or DSD. Part of the rationale for this change was to move away from associations with gender, and to increase clarity by grounding the classification system in genetics. While the medical community has largely accepted the move, some individuals from intersex activist communities have condemned it. In addition, people both inside and outside the medical community have disagreed about what should be covered by the classification system, in particular whether sex chromosome variations and the related diagnoses of Turner and Klinefelter’s syndromes should be included. This article explores initial descriptions of Turner and Klinefelter’s syndromes and their subsequent inclusion in intersex classifications, which were increasingly grounded in scientific understandings of sex chromosomes that emerged in the 1950s. The article questions the current drive to stabilize and ‘sort out’ intersex classifications through a grounding in genetics. Alternative social and historical definitions of intersex – such as those proposed by the intersex activists – have the potential to do more justice to the lived experience of those affected by such classifications and their consequences. PMID:29424285

Simulation of detonation of ammonium nitrate fuel oil mixture confined by aluminum: edge angles for DSD

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

Short, Mark; Quirk, James J; Kiyanda, Charles B

2010-01-01

Non-ideal high explosives are typically porous, low-density materials with a low detonation velocity (3--5 km/s) and long detonation reaction zone ({approx} cms). As a result, the interaction of a non-ideal high explosive with an inert confiner can be markedly different than for a conventional high explosive. Issues arise, for example, with light stiff confiners where the confiner can drive the high explosive (HE) through a Prandtl-Meyer fan at the HE/confiner interface rather than the HE driving the confiner. For a non-ideal high explosive confined by a high sound speed inert such that the detonation velocity is lower than the inertmore » sound speed, the flow is subsonic and thus shockless in the confiner. In such cases, the standard detonation shock dynamics methodology, which requires a positive edge-angle be specified at the HE/confiner interface in order that the detonation shape be divergent, cannot be directly utilized. In order to study how detonation shock dynamics can be utilized in such cases, numerical simulations of the detonation of ammonium nitrate-fuel oil (ANFO) confined by aluminum 6061 are conducted.« less

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.

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.

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.

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.

76 FR 4365 - Renewal of the Trinity River Adaptive Management Working Group

Federal Register 2010, 2011, 2012, 2013, 2014

2011-01-25

... Management Working Group AGENCY: Office of the Secretary, Interior. ACTION: Notice. SUMMARY: The Secretary of... Trinity River Adaptive Management Working Group (Working Group) for 2 years. The Working Group provides... Road, Arcata, CA 95521; 707-822-7201. SUPPLEMENTARY INFORMATION: The Working Group conducts its...

78 FR 5830 - Renewal of the Trinity River Adaptive Management Working Group

Federal Register 2010, 2011, 2012, 2013, 2014

2013-01-28

... Management Working Group AGENCY: Office of the Secretary, Interior. ACTION: Notice. SUMMARY: The Secretary of... Trinity River Adaptive Management Working Group (Working Group) for 2 years. The Working Group provides... Road, Arcata, CA 95521; 707-822-7201. SUPPLEMENTARY INFORMATION: The Working Group conducts its...

Work-family conflict in work groups: social information processing, support, and demographic dissimilarity.

PubMed

Bhave, Devasheesh P; Kramer, Amit; Glomb, Theresa M

2010-01-01

We used social information processing theory to examine the effect of work-family conflict (WFC) at the work group level on individuals' experience of WFC. Consistent with hypotheses, results suggest that WFC at the work group level influences individual WFC over and above the shared work environment and job demands. It was also observed that work group support and demographic dissimilarity moderate this relationship. Moderator analyses suggest that work group social support buffers WFC for individuals but is also associated with a stronger effect of work group WFC on individuals' WFC. Moreover, the work group effect on individuals' WFC was shown to be stronger for individuals who were demographically dissimilar to the work group in terms of sex and number of dependents. The interpretations and implications of these findings are discussed. Copyright 2009 APA, all rights reserved.

[Impact of work-related musculoskeletal disorders on work ability among workers].

PubMed

Zhang, Lei; Huang, Chunping; Lan, Yajia; Wang, Mianzhen; Shu, Liping; Zhang, Wenhui; Yu, Long; Yao, Shengcai; Liao, Yunhua

2015-04-01

To assess the impact of work-related musculoskeletal disorders (WRMDs) on work ability among workers. A total of 1686 workers in various occupations, such as administration and education, were enrolled as subjects using the random cluster sampling method. The WRMDs and work ability of all subjects were evaluated using standardized Nordic questionnaires for the analysis of musculoskeletal symptoms and the Work Ability Index (WAI) scale, respectively. Comparison of work ability and its classification between the disease group and the non-disease group was performed by paired t test, RxC table χ2 test, and the Wilcoxon rank-sum test. The relationship between work duration and work ability was analyzed by the Spearman correlation test and a multi-level model. (1). The work ability of workers in the disease group was significantly lower than that in the non-disease group (P<0.0 1). (2) There were significant differences in work ability between workers with different work durations (<10 years, 10-20 years, and ≥20 years) (F=22.124, P< 0.01). With the increase in work duration, the work ability of workers declined in both groups, and the work ability of workers in the disease group (Spearman coefficient rs=-0. 172, P<0.01) had a more significant decline than that in the non-disease group (Spearman coefficient rs=-0.104, P<0.01). WRMDs were important risk factors for the decrease in work ability among workers. (3) There were significant differences in constituent ratios and levels of work ability classification between the disease group and the non-disease group (χ2=121.097, P<0.01; Z=-10.699, P<0.01). The proportions of workers with poor and medium work ability in the disease group were significantly higher than those in the non-disease group, while the proportion of works with excellent work ability in the disease group was significantly lower than that in the non-disease group. The similar characteristics in constituent ratios and levels of work ability classification could be found between the disease group and the non- disease group in various occupations (P<0.01). WRMDs have a harmful effect on the work ability of workers, and the work ability of workers substantially declines with the increase in exposure time (work duration).

Group work as an incentive for learning – students’ experiences of group work

PubMed Central

Hammar Chiriac, Eva

2014-01-01

Group work is used as a means for learning at all levels in educational systems. There is strong scientific support for the benefits of having students learning and working in groups. Nevertheless, studies about what occurs in groups during group work and which factors actually influence the students’ ability to learn is still lacking. Similarly, the question of why some group work is successful and other group work results in the opposite is still unsolved. The aim of this article is to add to the current level of knowledge and understandings regarding the essence behind successful group work in higher education. This research is focused on the students’ experiences of group work and learning in groups, which is an almost non-existing aspect of research on group work prior to the beginning of the 21st century. A primary aim is to give university students a voice in the matter by elucidating the students’ positive and negative points of view and how the students assess learning when working in groups. Furthermore, the students’ explanations of why some group work ends up being a positive experience resulting in successful learning, while in other cases, the result is the reverse, are of interest. Data were collected through a study-specific questionnaire, with multiple choice and open-ended questions. The questionnaires were distributed to students in different study programs at two universities in Sweden. The present result is based on a reanalysis and qualitative analysis formed a key part of the study. The results indicate that most of the students’ experiences involved group work that facilitated learning, especially in the area of academic knowledge. Three important prerequisites (learning, study-social function, and organization) for group work that served as an effective pedagogy and as an incentive for learning were identified and discussed. All three abstractions facilitate or hamper students’ learning, as well as impact their experiences with group work. PMID:24926282

75 FR 34476 - Glen Canyon Dam Adaptive Management Work Group

Federal Register 2010, 2011, 2012, 2013, 2014

2010-06-17

... DEPARTMENT OF THE INTERIOR Bureau of Reclamation Glen Canyon Dam Adaptive Management Work Group... Management Work Group. The purpose of the Adaptive Management Work Group is to advise and to provide... of the Glen Canyon Dam Adaptive Management Work Group is in the public interest in connection with...

A Task Group Practitioner's Response to Waldo and Bauman's Article on Regrouping the Categorization of Group Work.

ERIC Educational Resources Information Center

Keel, Linda P.

1998-01-01

Argues that Waldo and Bauman's Goals and Process (GAP) matrix does not include task/work groups. Claims that it is not in the best interest of group work to undo or rework the Association for Specialists in Group Work's four core groups as a model. States that the field of group work needs a commonly shared framework/categorization from which to…

Has Group Work Education Lost Its Social Group Work Essence? A Content Analysis of MSW Course Syllabi in Search of Mutual Aid and Group Conflict Content

ERIC Educational Resources Information Center

Sweifach, Jay Stephen

2015-01-01

This article presents the results of a content analysis of MSW group work course syllabi in an effort to better understand the extent to which mutual aid and group conflict, two important dimensions of social group work, are included and featured as prominent elements in MSW-level group work instruction.

Theoretical Issues in Clinical Social Group Work.

ERIC Educational Resources Information Center

Randall, Elizabeth; Wodarski, John S.

1989-01-01

Reviews relevant issues in clinical social group practice including group versus individual treatment, group work advantages, approach rationale, group conditions for change, worker role in group, group composition, group practice technique and method, time as group work dimension, pretherapy training, group therapy precautions, and group work…

Multicultural Group Work: A Force for Developing and Healing

ERIC Educational Resources Information Center

Anderson, Donald

2007-01-01

Multicultural group work represents a powerful tool for helping and healing in the context of human diversity. This article summarizes multicultural group work, including task, psychoeducational, counseling, and psychotherapy groups, and describes a group work model for multicultural assessment, diagnosis, and treatment planning. Group work…

Group Work Publication-1991.

ERIC Educational Resources Information Center

Zimpfer, David G.

1992-01-01

Lists 21 new publications in group work, of which 9 are reviewed. Those discussed include publications on group counseling and psychotherapy, structured groups, support groups, psychodrama, and social group work. (Author/NB)

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

Follow-up study of female delinquent adolescents in a detention centre: effectiveness of psychiatric intervention as a mental health service.

PubMed

Ariga, Michio; Uehara, Toru; Takeuchi, Kazuo; Ishige, Yoko; Nakano, Reiko; Mikuni, Masahiko

2010-01-01

of previous studies suggest that many female offenders have co-morbid psychiatric disorders, which require mental health services. However, few longitudinal studies examined subjects during incarceration or detention. This study compares depressive symptoms, abnormal eating behaviour and impulsivity before release from a detention centre and after incarceration, thereby indicating the effectiveness of psychiatric intervention in a Japanese detention centre. Of 64 young women, 36 were followed up. Self-report measures were used to assess depression, eating behaviour and impulsivity after incarceration and one month before release. s: Of the 36 participants, nine were diagnosed using the MINI-kids as needing mental health services. Those who received psychiatric intervention were diagnosed as having major depression and/or post-traumatic stress disorder. Significant main effects of intervention and effects of time were shown in the DSD. The EAT-26 score demonstrated the significance of the effects of time and interaction. In the BIS-11 scores, neither intervention nor time showed significant effects. Results of this study showed that the time course and psychiatric intervention contributed to recovery of depression and therapeutic intervention. The time course might reduce eating problems. Psychiatric intervention might be necessary for female juvenile detainees, which presents an important issue for future studies.

Identification of novel craniofacial regulatory domains located far upstream of SOX9 and disrupted in Pierre Robin sequence

PubMed Central

Gordon, Christopher T.; Attanasio, Catia; Bhatia, Shipra; Benko, Sabina; Ansari, Morad; Tan, Tiong Y.; Munnich, Arnold; Pennacchio, Len A.; Abadie, Véronique; Temple, I. Karen; Goldenberg, Alice; van Heyningen, Veronica; Amiel, Jeanne; FitzPatrick, David; Kleinjan, Dirk A.; Visel, Axel; Lyonnet, Stanislas

2015-01-01

Mutations in the coding sequence of SOX9 cause campomelic dysplasia (CD), a disorder of skeletal development associated with 46,XY disorders of sex development (DSDs). Translocations, deletions and duplications within a ~2 Mb region upstream of SOX9 can recapitulate the CD-DSD phenotype fully or partially, suggesting the existence of an unusually large cis-regulatory control region. Pierre Robin sequence (PRS) is a craniofacial disorder that is frequently an endophenotype of CD and a locus for isolated PRS at ~1.2-1.5 Mb upstream of SOX9 has been previously reported. The craniofacial regulatory potential within this locus, and within the greater genomic domain surrounding SOX9, remains poorly defined. We report two novel deletions upstream of SOX9 in families with PRS, allowing refinement of the regions harbouring candidate craniofacial regulatory elements. In parallel, ChIP-Seq for p300 binding sites in mouse craniofacial tissue led to the identification of several novel craniofacial enhancers at the SOX9 locus, which were validated in transgenic reporter mice and zebrafish. Notably, some of the functionally validated elements fall within the PRS deletions. These studies suggest that multiple non-coding elements contribute to the craniofacial regulation of SOX9 expression, and that their disruption results in PRS. PMID:24934569

Coupling of anodic oxidation and adsorption by granular activated carbon for chemical oxygen demand removal from 4,4'-diaminostilbene-2,2'-disulfonic acid wastewater.

PubMed

Wang, Lizhang; Zhao, Yuemin

2010-01-01

Experiments were performed to reduce chemical oxygen demand (COD) from 4,4'-diaminostilbene-2,2'-disulfonic (DSD) acid manufacturing wastewater using electrochemical oxidation coupled with adsorption by granular activated carbon. The COD removal is affected by the residence time and applied voltage. When the residence time is increased, lower value of COD effluent could be obtained, however, the average current efficiency (ACE) decreased rapidly, and so does the applied voltage. In addition, aeration could effectively enhance COD removal efficiency and protect anodes from corrosion. Furthermore, the acidic condition is beneficial to the rapid decrease of COD and the values of pH effluent are independent of the initial solution pH. The optimization conditions obtained from these experiments are applied voltage of 4.8 V, residence time of 180 min and air-liquid ratio of 4.2 with the COD effluent of about 690 mg L⁻¹. In these cases, the ACE and energy consumption are 388% and 4.144 kW h kg⁻¹ COD, respectively. These perfect results from the experiments illustrate that the combined process is a considerable alternative for the treatment of industrial wastewater containing high concentration of organic pollutants and salinity.

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.

Group Selection and Learning for a Lab-Based Construction Management Course

ERIC Educational Resources Information Center

Solanki, Pranshoo; Kothari, Nidhi

2014-01-01

In construction industries' projects, working in groups is a normal practice. Group work in a classroom is defined as students working collaboratively in a group so that everyone can participate on a collective task. The results from literature review indicate that group work is more effective method of learning as compared to individual work.…

75 FR 4440 - Meeting of the Working group on Environmental Cooperation Pursuant to the United States-Morocco...

Federal Register 2010, 2011, 2012, 2013, 2014

2010-01-27

... DEPARTMENT OF STATE [Public Notice 6885] Meeting of the Working group on Environmental Cooperation... meeting of the Working Group on Environmental Cooperation (``Working Group'') in Rabat, Morocco on February 9, 2010, at a venue to be announced. Meetings of the Working Group were forecast in paragraph five...

75 FR 51525 - Railroad Safety Advisory Committee (RSAC); Working Group Activity Update

Federal Register 2010, 2011, 2012, 2013, 2014

2010-08-20

.... 63] Railroad Safety Advisory Committee (RSAC); Working Group Activity Update AGENCY: Federal Railroad... Committee (RSAC) Working Group Activities. SUMMARY: The FRA is updating its announcement of RSAC's Working.... SUPPLEMENTARY INFORMATION: This notice serves to update FRA's last announcement of working group activities and...

Long working hours and emotional well-being in korean manufacturing industry employees.

PubMed

Lee, Kyoung-Hye; Kim, Jong-Eun; Kim, Young-Ki; Kang, Dong-Mug; Yun, Myeong-Ja; Park, Shin-Goo; Song, Jae-Seok; Lee, Sang-Gil

2013-12-05

Korea is well known for its long work hours amongst employees. Because workers of the manufacturing industry are constantly exposed to extended work hours, this study was based on how long work hours affect their emotional well-being. The analysis was done using the secondary Korean Working Condition Survey (KWCS). Long work hours were defined to be more than 48 hours, and they were subcategorized into units of 52 hours and 60 hours. Based on the WHO (five) well-being index, emotional state was subdivided into three groups - reference group, low-mood group, and possible depression group- where 28 points and 50 points were division points, and two groups were compared at a time. Association between long work hours and emotional state was analyzed using binary and multinomial logistic regression analysis. Working for extended working hours in the manufacturing industry showed a statistically significant increase (t test p < 0.001) in trend among the possible depression group when compared to the reference group and the low-mood group. When demographical characteristics, health behaviors, socioeconomic state, and work-related characteristics were fixed as controlled variables, as work hours increased the odds ratio of the possible depression group increased compared to the reference group, and especially the odds ratio was 2.73 times increased for work hours between 48-52 and 4.09 times increased for 60 hours or more and both were statistically significant. In comparing the low-mood group and possible depression group, as work hours increased the odds ratio increased to 1.73, 2.39, and 4.16 times, and all work hours from working 48-52 hours, 53-60 hours, and 60 hours or more were statistically significant. Multinomial logistic regression analysis also showed that among the reference group and possible group, the possible depression group was statistically significant as odds ratio increased to 2.94 times in working 53-60 hours, and 4.35 times in 60 hours or more. Long work hours have an adverse effect on emotional well-being. A more diversified research towards variables that affect long work hours and emotional well-being and how they interact with each other and their relationship to overall health is imperative.

75 FR 4904 - Railroad Safety Advisory Committee (RSAC); Working Group Activity Update

Federal Register 2010, 2011, 2012, 2013, 2014

2010-01-29

...-7257] Railroad Safety Advisory Committee (RSAC); Working Group Activity Update AGENCY: Federal Railroad... Committee (RSAC) Working Group Activities. SUMMARY: The FRA is updating its announcement of RSAC's Working... notice serves to update FRA's last announcement of working group activities and status reports of August...

77 FR 24257 - Railroad Safety Advisory Committee (RSAC); Working Group Activity Update

Federal Register 2010, 2011, 2012, 2013, 2014

2012-04-23

.... 69] Railroad Safety Advisory Committee (RSAC); Working Group Activity Update AGENCY: Federal Railroad... Committee (RSAC) Working Group Activities. SUMMARY: The FRA is updating its announcement of the RSAC Working.... SUPPLEMENTARY INFORMATION: This notice serves to update FRA's last announcement of working group activities and...

78 FR 57672 - 91st Meeting: RTCA Special Committee 159, Global Positioning Systems (GPS)

Federal Register 2010, 2011, 2012, 2013, 2014

2013-09-19

... include the following: Working Group Sessions October 7 Working Group 2C, GPS/Inertial, ARINC & A4A Rooms October 8 Working Group 2, GPS/WAAS, McIntosh-NBAA Room and Colson Board Room October 9 Working Group 2, GPS/WAAS, ARINC & A4A Rooms, Afternoon, 1:00 p.m.-5:00 p.m., Working Group 4, GPS/Precision Landing...

78 FR 56238 - Office of the Director, National Institutes of Health; Notice of Meeting

Federal Register 2010, 2011, 2012, 2013, 2014

2013-09-12

... to discuss the findings of two of its working groups: the Brain Research through Advancing Innovative Neurotechnologies (BRAIN) working group and the HeLa Genome Data Access working group. The BRAIN working group...

Impact of work-life imbalance on job satisfaction and quality of life among hospital nurses in Japan

PubMed Central

MAKABE, Sachiko; TAKAGAI, Junko; ASANUMA, Yoshihiro; OHTOMO, Kazuo; KIMURA, Yutaka

2014-01-01

This study investigated the status of work-life imbalance among hospital nurses in Japan and impact of work-life imbalance on job satisfaction and quality of life. A cross-sectional survey of 1,202 nurses (81% response rate) was conducted in three Japanese acute care hospitals. Participants were divided into four groups for actual work-life balance (Group A: 50/50, including other lower working proportion groups [e.g., 40/50]; Group B: 60/40; Group C: 70/30; and Group D: 80/20, including other higher working proportion groups [e.g., 90/10]). We also asked participants about desired work-life balance, and private and work-related perspectives. Satisfactions (job, private life, and work-life balance), quality of life, and stress-coping ability were also measured. All data were compared among the four groups. Most nurses sensed that they had a greater proportion of working life than private life, and had a work-life imbalance. Actual WLB did not fit compared to desired WLB. When the actual working proportion greatly exceeds the private life proportion, nurses’ health could be in danger, and they may resign due to lower job satisfaction and QOL. Simultaneous progress by both management and individual nurses is necessary to improve work-life imbalance. PMID:25475095

Impact of work-life imbalance on job satisfaction and quality of life among hospital nurses in Japan.

PubMed

Makabe, Sachiko; Takagai, Junko; Asanuma, Yoshihiro; Ohtomo, Kazuo; Kimura, Yutaka

2015-01-01

This study investigated the status of work-life imbalance among hospital nurses in Japan and impact of work-life imbalance on job satisfaction and quality of life. A cross-sectional survey of 1,202 nurses (81% response rate) was conducted in three Japanese acute care hospitals. Participants were divided into four groups for actual work-life balance (Group A: 50/50, including other lower working proportion groups [e.g., 40/50]; Group B: 60/40; Group C: 70/30; and Group D: 80/20, including other higher working proportion groups [e.g., 90/10]). We also asked participants about desired work-life balance, and private and work-related perspectives. Satisfactions (job, private life, and work-life balance), quality of life, and stress-coping ability were also measured. All data were compared among the four groups. Most nurses sensed that they had a greater proportion of working life than private life, and had a work-life imbalance. Actual WLB did not fit compared to desired WLB. When the actual working proportion greatly exceeds the private life proportion, nurses' health could be in danger, and they may resign due to lower job satisfaction and QOL. Simultaneous progress by both management and individual nurses is necessary to improve work-life imbalance.

Emotions in Group Work: Insights from an Appraisal-Oriented Perspective

ERIC Educational Resources Information Center

Zschocke, Karen; Wosnitza, Marold; Bürger, Kathrin

2016-01-01

Small group work is common practice in higher education. However, empirical research on students' emotions related to group work is still relatively scarce. Particularly, little is known about students' appraisals of a group task as antecedents of emotions arising in the context of group work. This paper provides a first attempt to systematically…

The effect of lifestyle modification on physical fitness and work ability in different workstyles.

PubMed

Ohta, Masanori; Okufuji, Tatsuya; Matsushima, Yasuyuki; Ikeda, Masaharu

2004-12-01

It is generally considered that physical fitness is affected by daily life activities including leisure time activity and working time activity. The aim of this study is to investigate the effects of different levels of physical activity at work on physical fitness, analyze the effects of 12-week lifestyle modification outside of working hours on physical fitness, work satisfaction and subjective symptoms, and to consider the role of lifestyle modification in occupational health. Lifestyle modification, consisting of aerobic exercise and diet counseling, was conducted for 12 weeks. The data before and after the intervention from 49 male workers were obtained. Physical fitness such as exercise endurance, flexibility, agility, balance, muscular strength, muscular endurance, and muscular power was measured before and after the intervention. The subjects were asked to fill out questionnaires about their work activities, subjective complaints, and work satisfaction. Subjects were divided into active work group (n = 14) and sedentary work group (n = 35) for analysis according to their work activities. As for differences in physical fitness due to different levels of physical activity, the active work group had superior exercise endurance and balance compared to the sedentary work group. In addition, the sedentary work group tended to experience greater fatigue than the active work group. In the active work group, flexibility and muscular strength were significantly increased with lifestyle modification and, in the sedentary work group, exercise endurance, flexibility and muscular endurance were significantly improved while balance also showed a tendency to improve. In the sedentary work group, lifestyle modification resulted in reduced fatigue and stiff neck as well as an increased work satisfaction. In the active work group, no change was observed in complaints or work satisfaction, but improved physical fitness led to a reduction in subjective complaints and an increase in work satisfaction. The level of physical activity at work contributes to the physical fitness of the worker and the addition of aerobic exercise in the worker's leisure time improves physical fitness and thereby contributes to increased work ability regardless of differences in the level of physical activity at work.

Group processing in an undergraduate biology course for preservice teachers: Experiences and attitudes

NASA Astrophysics Data System (ADS)

Schellenberger, Lauren Brownback

Group processing is a key principle of cooperative learning in which small groups discuss their strengths and weaknesses and set group goals or norms. However, group processing has not been well-studied at the post-secondary level or from a qualitative or mixed methods perspective. This mixed methods study uses a phenomenological framework to examine the experience of group processing for students in an undergraduate biology course for preservice teachers. The effect of group processing on students' attitudes toward future group work and group processing is also examined. Additionally, this research investigated preservice teachers' plans for incorporating group processing into future lessons. Students primarily experienced group processing as a time to reflect on past performance. Also, students experienced group processing as a time to increase communication among group members and become motivated for future group assignments. Three factors directly influenced students' experiences with group processing: (1) previous experience with group work, (2) instructor interaction, and (3) gender. Survey data indicated that group processing had a slight positive effect on students' attitudes toward future group work and group processing. Participants who were interviewed felt that group processing was an important part of group work and that it had increased their group's effectiveness as well as their ability to work effectively with other people. Participants held positive views on group work prior to engaging in group processing, and group processing did not alter their atittude toward group work. Preservice teachers who were interviewed planned to use group work and a modified group processing protocol in their future classrooms. They also felt that group processing had prepared them for their future professions by modeling effective collaboration and group skills. Based on this research, a new model for group processing has been created which includes extensive instructor interaction and additional group processing sessions. This study offers a new perspective on the phenomenon of group processing and informs science educators and teacher educators on the effective implementation of this important component of small-group learning.

Development and Reliability of the Basic Skill Assessment Tool for Adolescents with Autism Spectrum Disorder

PubMed Central

Lersilp, Suchitporn; Suchart, Sumana

2017-01-01

The purpose of this study was to improve upon the first version of the basic work skills assessment tool for adolescents with autism spectrum disorder (ASD) and examine interrater and intrarater reliability using Intraclass Correlation Coefficient (ICC). The modified tool includes 2 components: (1) three tasks measuring work abilities and work attitudes and (2) a form to record the number of verbal and nonverbal prompts. 26 participants were selected by purposive sampling and divided into 3 groups—group 1 (10 subjects, aged 11–13 years), group 2 (10, aged 14–16 years), and group 3 (6, aged 17–19 years). The results show that interrater reliabilities of work abilities and work attitudes were high in all groups except that the work attitude in group 1 was moderate. Intrarater reliabilities of work abilities in group 1 and group 2 were high. Group 3 was moderate. Intrarater reliabilities of work attitudes in group 1 and group 3 were high but not in group 2 in which they were moderate. Nevertheless, interrater and intrarater reliabilities in the total scores of all groups were high, which implies that this tool is applicable for adolescents aged 11–19 years with consideration of relevance for each group. PMID:28280769

Small group learning: graduate health students' views of challenges and benefits.

PubMed

Jackson, Debra; Hickman, Louise D; Power, Tamara; Disler, Rebecca; Potgieter, Ingrid; Deek, Hiba; Davidson, Patricia M

2014-07-19

Abstract Background: For health care professionals, particularly nurses, the need to work productively and efficiently in small groups is a crucial skill required to meet the challenges of the contemporary health-care environment. Small group work is an educational technique that is used extensively in nurse education. The advantage of group work includes facilitation of deep, active and collaborative learning. However, small group work can be problematic and present challenges for students. Many of the challenges occur because group work necessitates the coming together of collections of individuals, each with their own personalities and sets of experiences. Aim: This study aimed to identify challenges and benefits associated with small group work and to explore options for retaining the positive aspects of group work while reducing or eliminating the aspects the students experienced as negative. Method: Online survey; thematic analysis. Results: Over all, students experienced a range of challenges that necessitated the development of problem-solving strategies. However, they were able to elucidate some enjoyable and positive aspects of group work. Implications for teaching and learning are drawn from this study. Conclusion: The ability to work effectively in small groups and teams is essential for all health care workers in the contemporary health environment. Findings of this study highlight the need for educators to explore novel and effective ways in which to engage nurses in group work.

Small group learning: Graduate health students' views of challenges and benefits.

PubMed

Jackson, Debra; Hickman, Louise D; Power, Tamara; Disler, Rebecca; Potgieter, Ingrid; Deek, Hiba; Davidson, Patricia M

2014-01-01

Abstract Background: For health-care professionals, particularly nurses, the need to work productively and efficiently in small groups is a crucial skill required to meet the challenges of the contemporary health-care environment. Small group work is an educational technique that is used extensively in nurse education. The advantage of group work includes facilitation of deep, active and collaborative learning. However, small group work can be problematic and present challenges for students. Many of the challenges occur because group work necessitates the coming together of collections of individuals, each with their own personalities and sets of experiences. This study aimed to identify challenges and benefits associated with small group work and to explore options for retaining the positive aspects of group work while reducing or eliminating the aspects the students experienced as negative. Online survey; thematic analysis. Over all, students experienced a range of challenges that necessitated the development of problem-solving strategies. However, they were able to elucidate some enjoyable and positive aspects of group work. Implications for teaching and learning are drawn from this study. The ability to work effectively in small groups and teams is essential for all health-care workers in the contemporary health environment. Findings of this study highlight the need for educators to explore novel and effective ways in which to engage nurses in group work.

78 FR 11728 - Aviation Rulemaking Advisory Committee; Meeting

Federal Register 2010, 2011, 2012, 2013, 2014

2013-02-19

... Working Groups a. Airman Testing Standards and Training Working Group (ARAC) b. Flight Controls Harmonization Working Group (Transport Airplane and Engine Subcommittee [TAE]) c. Airworthiness Assurance Working Group (TAE) 3. New Tasks a. Engine Bird Ingestion Requirements--Revision of Section 33.76 b...

Graduate Social Work Students' Experiences with Group Work in the Field and the Classroom

ERIC Educational Resources Information Center

Goodman, Harriet; Knight, Carolyn; Khudododov, Khudodod

2014-01-01

For decades, group work scholars have described a discrepancy between student preparation for group work practice and opportunities to work with groups in the field practicum and professional practice. Educators in related disciplines such as counseling and psychology have expressed similar concerns. This article reports findings of a study of MSW…

The Impact of Instructor's Group Management Strategies on Students' Attitudes to Group Work and Generic Skill Development

ERIC Educational Resources Information Center

Natoli, Riccardo; Jackling, Beverley; Seelanatha, Lalith

2014-01-01

This paper examines the influence of two distinct group work management strategies on finance students' attitudes towards group work and their perceptions of generic skill development. Using quantitative and qualitative data, comparisons are made between students who experienced a supportive group work environment and students who experienced an…

Students' Perceptions of Classroom Group Work as a Function of Group Member Selection

ERIC Educational Resources Information Center

Myers, Scott A.

2012-01-01

The purpose of this assessment was to examine whether differences exist between students who self-select their classroom work group members and students who are randomly assigned to their classroom work groups in terms of their use of organizational citizenship behaviors with their work group members; their commitment to, trust in, and relational…

78 FR 49595 - Aviation Rulemaking Advisory Committee-New Task

Federal Register 2010, 2011, 2012, 2013, 2014

2013-08-14

... the new ARAC activity and solicits membership for the Maintenance Reliability Program Working Group... establish the Maintenance Reliability Program Working Group. The working group will serve as staff to ARAC... programs. The Maintenance Reliability Program Working Group will provide advice and recommendations on the...

75 FR 27618 - RTCA Government/Industry Air Traffic Management Advisory Committee (ATMAC)

Federal Register 2010, 2011, 2012, 2013, 2014

2010-05-17

... Plenary (Welcome and Introductions); Trajectory Operations (TOps) Work Group Presentation of Document... Work Group (NGIWG) Report, Discussion, and possible Next Steps; ADS-B Work Group Presentation of Legacy... Activity Airspace Program (NSAAP) Presentation Requested by Requirements and Planning Work Group, Airspace...

77 FR 36903 - Accelerating Broadband Infrastructure Deployment

Federal Register 2010, 2011, 2012, 2013, 2014

2012-06-20

... coordination with the Chief Performance Officer (CPO). (b) The Working Group shall be composed of: (i) a... broadband infrastructure. Sec. 2. Broadband Deployment on Federal Property Working Group. (a) In order to... Property Working Group (Working Group), to be co-chaired by representatives designated by the Administrator...

Group Work and the Change of Obstacles over Time: The Influence of Learning Style and Group Composition

ERIC Educational Resources Information Center

Soetanto, Danny; MacDonald, Matthew

2017-01-01

It is through working in groups that students develop cooperative learning skills and experience. However, group work activity often leads students into a difficult experience, especially for first-year students who are not familiar with group work activities at university. This study explores obstacles faced by first-year students during their…

76 FR 54487 - Charter Renewal, Glen Canyon Dam Adaptive Management Work Group

Federal Register 2010, 2011, 2012, 2013, 2014

2011-09-01

... Management Work Group AGENCY: Bureau of Reclamation, Interior. ACTION: Notice of renewal. SUMMARY: Following... Interior (Secretary) is renewing the charter for the Glen Canyon Dam Adaptive Management Work Group. The purpose of the Adaptive Management Work Group is to advise and to provide recommendations to the Secretary...

ACHP | News | Native Hawaiian Federal Interagency Working Group Created

Science.gov Websites

Search skip specific nav links Home arrow News arrow Native Hawaiian Federal Interagency Working Group Created Native Hawaiian Federal Interagency Working Group Created Improving consultations on unique issues involving Native Hawaiian organizations is the purpose of a new interagency working group established by the

78 FR 36541 - Public Interface Control Working Group (ICWG) Meeting

Federal Register 2010, 2011, 2012, 2013, 2014

2013-06-18

... DEPARTMENT OF DEFENSE Department of the Air Force Public Interface Control Working Group (ICWG... Systems (GPS) Directorate will be hosting a Public Interface Control Working Group (ICWG) meeting for the....mil by August 7, 2013. Public Interface Control Working Group Meeting (ICWG) Date(s) and Times: 24-25...

The long-term impact of employment on mental health service use and costs for persons with severe mental illness.

PubMed

Bush, Philip W; Drake, Robert E; Xie, Haiyi; McHugo, Gregory J; Haslett, William R

2009-08-01

Stable employment promotes recovery for persons with severe mental illness by enhancing income and quality of life, but its impact on mental health costs has been unclear. This study examined service cost over ten years among participants in a co-occurring disorders study. Latent-class growth analysis of competitive employment identified trajectory groups. The authors calculated annual costs of outpatient services and institutional stays for 187 participants and examined group differences in ten-year utilization and cost. A steady-work group (N=51) included individuals whose work hours increased rapidly and then stabilized to average 5,060 hours per person over ten years. A late-work group (N=57) and a no-work group (N=79) did not differ significantly in utilization or cost outcomes, so they were combined into a minimum-work group (N=136). More education, a bipolar disorder diagnosis (versus schizophrenia or schizoaffective disorder), work in the past year, and lower scores on the expanded Brief Psychiatric Rating Scale predicted membership in the steady-work group. These variables were controlled for in the outcomes analysis. Use of outpatient services for the steady-work group declined at a significantly greater rate than it did for the minimum-work group, while institutional (hospital, jail, or prison) stays declined for both groups without a significant difference. The average cost per participant for outpatient services and institutional stays for the minimum-work group exceeded that of the steady-work group by $166,350 over ten years. Highly significant reductions in service use were associated with steady employment. Given supported employment's well-established contributions to recovery, evidence of long-term reductions in the cost of mental health services should lead policy makers and insurers to promote wider implementation.

Key Concepts of Teams in an Organisation. Information Bank Working Paper Number 2541.

ERIC Educational Resources Information Center

Marsh, D. T.

Teams in an organization are more than cooperative working groups. Advantages of group work, as opposed to individual work, include producing a better end result, providing satisfaction for the individual and the organization, and assisting the organization through coordination and work allocation. Disadvantages of group work include producing a…

Planning Self-Managed Work Groups. Features of Self-Managed Work Groups. Results of Using Self-Managed Work Groups. Issues and Implications in Using Self-Managed Work Groups. Status of Ohio Manufacturing Companies.

ERIC Educational Resources Information Center

Smylie, Patrick E.; Jacobs, Ronald L.

A study was conducted to describe the present status of self-managed work groups in Ohio manufacturing companies. Data for the study were gathered through lengthy interviews and site visits with 45 manufacturing companies in the state, 24 employing 2,000-14,000 workers and 21 employing 300 to 1,900 workers. The results of the study are presented…

75 FR 76070 - Railroad Safety Advisory Committee (RSAC); Working Group Activity Update

Federal Register 2010, 2011, 2012, 2013, 2014

2010-12-07

.... 65] Railroad Safety Advisory Committee (RSAC); Working Group Activity Update AGENCY: Federal Railroad... Committee (RSAC) Working Group Activities. SUMMARY: The FRA is updating its announcement of RSAC's Working.... [[Page 76071

Qualitative Research in Group Work: Status, Synergies, and Implementation

ERIC Educational Resources Information Center

Rubel, Deborah; Okech, Jane E. Atieno

2017-01-01

The article aims to advance the use of qualitative research methods to understand group work. The first part of this article situates the use of qualitative research methods in relationship to group work research. The second part examines recent qualitative group work research using a framework informed by scoping and systematic review methods and…

76 FR 58078 - Thirteenth Meeting: RTCA Special Committee 214: Working Group 78: Standards for Air Traffic Data...

Federal Register 2010, 2011, 2012, 2013, 2014

2011-09-19

... Committee 214: Working Group 78: Standards for Air Traffic Data Communication Services AGENCY: Federal Aviation Administration (FAA), DOT. ACTION: Notice of RTCA Special Committee 214: Working Group 78... public of a meeting of the RTCA Special Committee 214: Working Group 78: Standards for Air Traffic Data...

3 CFR 13486 - Executive Order 13486 of January 9, 2009. Strengthening Laboratory Biosecurity in the United States

Code of Federal Regulations, 2010 CFR

2010-01-01

... agents and toxins. Sec. 2. Establishment and Operation of the Working Group. (a) There is hereby established, within the Department of Defense for administrative purposes only, the Working Group on Strengthening the Biosecurity of the United States (Working Group). (b) The Working Group shall consist...

Student Collaboration in Group Work: Inclusion as Participation

ERIC Educational Resources Information Center

Forslund Frykedal, Karin; Hammar Chiriac, Eva

2018-01-01

Group work is an educational mode that promotes learning and socialisation among students. In this study, we focused on the inclusive processes when students work in small groups. The aim was to investigate and describe students' inclusive and collaborative processes in group work and how the teacher supported or impeded these transactions. Social…

77 FR 14584 - Eleventh Meeting: RTCA Special Committee 217, Joint With EUROCAE Working Group-44, Terrain and...

Federal Register 2010, 2011, 2012, 2013, 2014

2012-03-12

... Committee 217, Joint With EUROCAE Working Group--44, Terrain and Airport Mapping Databases AGENCY: Federal... Special Committee 217, Joint with EUROCAE Working Group--44, Terrain and Airport Mapping Databases... Committee 217, Joint with EUROCAE Working Group--44, Terrain and Airport Mapping Databases. DATES: The...

76 FR 8353 - Positioning Systems Directorate Will Be Hosting an Interface Control Working Group (ICWG) Meeting...

Federal Register 2010, 2011, 2012, 2013, 2014

2011-02-14

... an Interface Control Working Group (ICWG) Meeting for Document ICD-GPS-870 AGENCY: Interface Control Working Group (ICWG) meeting for document ICD-GPS-870. ACTION: Meeting Notice. SUMMARY: This notice... Working Group (ICWG) meeting for document ICD-GPS-870, Navstar Next Generation GPS Operational Control...

75 FR 1380 - National Drinking Water Advisory Council's Climate Ready Water Utilities Working Group Meeting...

Federal Register 2010, 2011, 2012, 2013, 2014

2010-01-11

... Ready Water Utilities Working Group Meeting Announcement AGENCY: Environmental Protection Agency. ACTION... meeting of the Climate Ready Water Utilities (CRWU) Working Group of the National Drinking Water Advisory Council (NDWAC). The purpose of this meeting is for the Working Group to discuss the attributes and...

75 FR 20352 - National Drinking Water Advisory Council's Climate Ready Water Utilities Working Group Meeting...

Federal Register 2010, 2011, 2012, 2013, 2014

2010-04-19

... Ready Water Utilities Working Group Meeting Announcement AGENCY: Environmental Protection Agency. ACTION...-person meeting of the Climate Ready Water Utilities (CRWU) Working Group of the National Drinking Water Advisory Council (NDWAC). The purpose of this meeting is for the Working Group to discuss key findings, the...

76 FR 62894 - Following Procedures When Going Between Rolling Equipment

Federal Register 2010, 2011, 2012, 2013, 2014

2011-10-11

... Operations Fatality Analysis (SOFA) Working Group. In October 1999, the Working Group issued a report titled ``Findings and Recommendations of the SOFA Working Group.'' The report can be found on FRA's Web site at http... recommendation reads as follows: \\1\\ More recently, in March 2011, the SOFA Working Group issued a report titled...

Validating a work group climate assessment tool for improving the performance of public health organizations

PubMed Central

Perry, Cary; LeMay, Nancy; Rodway, Greg; Tracy, Allison; Galer, Joan

2005-01-01

Background This article describes the validation of an instrument to measure work group climate in public health organizations in developing countries. The instrument, the Work Group Climate Assessment Tool (WCA), was applied in Brazil, Mozambique, and Guinea to assess the intermediate outcomes of a program to develop leadership for performance improvement. Data were collected from 305 individuals in 42 work groups, who completed a self-administered questionnaire. Methods The WCA was initially validated using Cronbach's alpha reliability coefficient and exploratory factor analysis. This article presents the results of a second validation study to refine the initial analyses to account for nested data, to provide item-level psychometrics, and to establish construct validity. Analyses included eigenvalue decomposition analysis, confirmatory factor analysis, and validity and reliability analyses. Results This study confirmed the validity and reliability of the WCA across work groups with different demographic characteristics (gender, education, management level, and geographical location). The study showed that there is agreement between the theoretical construct of work climate and the items in the WCA tool across different populations. The WCA captures a single perception of climate rather than individual sub-scales of clarity, support, and challenge. Conclusion The WCA is useful for comparing the climates of different work groups, tracking the changes in climate in a single work group over time, or examining differences among individuals' perceptions of their work group climate. Application of the WCA before and after a leadership development process can help work groups hold a discussion about current climate and select a target for improvement. The WCA provides work groups with a tool to take ownership of their own group climate through a process that is simple and objective and that protects individual confidentiality. PMID:16223447

78 FR 36778 - Pesticide Program Dialogue Committee; Notice of Public Meeting

Federal Register 2010, 2011, 2012, 2013, 2014

2013-06-19

... Pollinator Protection; PPDC Work Group on Integrated Pest Management; PPDC Work Group on Comparative Safety... Management Work Group, 9:30 a.m. to noon in Conference Room S-4370-80; Comparative Safety Statements Work...

Transfer after Working Memory Updating Training

PubMed Central

Waris, Otto; Soveri, Anna; Laine, Matti

2015-01-01

During the past decade, working memory training has attracted much interest. However, the training outcomes have varied between studies and methodological problems have hampered the interpretation of results. The current study examined transfer after working memory updating training by employing an extensive battery of pre-post cognitive measures with a focus on near transfer. Thirty-one healthy Finnish young adults were randomized into either a working memory training group or an active control group. The working memory training group practiced with three working memory tasks, while the control group trained with three commercial computer games with a low working memory load. The participants trained thrice a week for five weeks, with one training session lasting about 45 minutes. Compared to the control group, the working memory training group showed strongest transfer to an n-back task, followed by working memory updating, which in turn was followed by active working memory capacity. Our results support the view that working memory training produces near transfer effects, and that the degree of transfer depends on the cognitive overlap between the training and transfer measures. PMID:26406319

Transfer after Working Memory Updating Training.

PubMed

Waris, Otto; Soveri, Anna; Laine, Matti

2015-01-01

During the past decade, working memory training has attracted much interest. However, the training outcomes have varied between studies and methodological problems have hampered the interpretation of results. The current study examined transfer after working memory updating training by employing an extensive battery of pre-post cognitive measures with a focus on near transfer. Thirty-one healthy Finnish young adults were randomized into either a working memory training group or an active control group. The working memory training group practiced with three working memory tasks, while the control group trained with three commercial computer games with a low working memory load. The participants trained thrice a week for five weeks, with one training session lasting about 45 minutes. Compared to the control group, the working memory training group showed strongest transfer to an n-back task, followed by working memory updating, which in turn was followed by active working memory capacity. Our results support the view that working memory training produces near transfer effects, and that the degree of transfer depends on the cognitive overlap between the training and transfer measures.

Health, work, social trust, and financial situation in persons with Usher syndrome type 1.

PubMed

Ehn, Mattias; Wahlqvist, Moa; Danermark, Berth; Dahlström, Örjan; Möller, Claes

2018-05-28

Research has demonstrated that persons with Usher syndrome type 1 (USH1) have significantly poorer physical and psychological health compared to a reference group. To explore the relation between work, health, social trust, and financial situation in USH1 compared to a reference group. Sixty-six persons (18-65 y) from the Swedish Usher database received a questionnaire and 47 were included, 23 working and 24 non-working. The reference group comprised 3,049 working and 198 non-working persons. The Swedish Health on Equal Terms questionnaire was used and statistical analysis with multiple logistic regression was conducted. The USH1 non-work group had a higher Odds ratio (95% CI) in poor psychological and physical health, social trust, and financial situation compared to the USH1 work group and reference groups. Age, gender, hearing, and vision impairment did not explain the differences. The relation between the USH1 work and non-work groups showed the same pattern as the reference groups, but the magnitude of problems was significantly higher. Both disability and unemployment increased the risk of poor health, social trust and financial situation in persons with USH1, but having an employment seemed to counteract the risks related to disability.

Group work: Facilitating the learning of international and domestic undergraduate nursing students.

PubMed

Shaw, Julie; Mitchell, Creina; Del Fabbro, Letitia

2015-01-01

Devising innovative strategies to address internationalization is a contemporary challenge for universities. A Participatory Action Research (PAR) project was undertaken to identify issues for international nursing students and their teachers. The findings identified group work as a teaching strategy potentially useful to facilitate international student learning. The educational intervention of structured group work was planned and implemented in one subject of a Nursing degree. Groups of four to five students were formed with one or two international students per group. Structural support was provided by the teacher until the student was learning independently, the traditional view of scaffolding. The group work also encouraged students to learn from one another, a contemporary understanding of scaffolding. Evaluation of the group work teaching strategy occurred via anonymous, self-completed student surveys. The student experience data were analysed using descriptive statistical techniques, and free text comments were analysed using content analysis. Over 85% of respondents positively rated the group work experience. Overwhelmingly, students reported that class discussions and sharing nursing experiences positively influenced their learning and facilitated exchange of knowledge about nursing issues from an international perspective. This evaluation of a structured group work process supports the use of group work in engaging students in learning, adding to our understanding of purposeful scaffolding as a pathway to enhance learning for both international and domestic students. By explicitly using group work within the curriculum, educators can promote student learning, a scholarly approach to teaching and internationalization of the curriculum.

Does competitive employment improve nonvocational outcomes for people with severe mental illness?

PubMed

Bond, G R; Resnick, S G; Drake, R E; Xie, H; McHugo, G J; Bebout, R R

2001-06-01

The authors examined the cumulative effects of work on symptoms, quality of life, and self-esteem for 149 unemployed clients with severe mental illness receiving vocational rehabilitation. Nonvocational measures were assessed at 6-month intervals throughout the 18-month study period, and vocational activity was tracked continuously. On the basis of their predominant work activity over the study period, participants were classified into 4 groups: competitive work, sheltered work, minimal work, and no work. The groups did not differ at baseline on any of the nonvocational measures. Using mixed effects regression analysis to examine rates of change over time, the authors found that the competitive work group showed higher rates of improvement in symptoms; in satisfaction with vocational services, leisure, and finances; and in self-esteem than did participants in a combined minimal work-no work group. The sheltered work group showed no such advantage.

A Demands-Resources Model of Work Pressure in IT Student Task Groups

ERIC Educational Resources Information Center

Wilson, E. Vance; Sheetz, Steven D.

2010-01-01

This paper presents an initial test of the group task demands-resources (GTD-R) model of group task performance among IT students. We theorize that demands and resources in group work influence formation of perceived group work pressure (GWP) and that heightened levels of GWP inhibit group task performance. A prior study identified 11 factors…

From the inside Out: Group Work with Women of Color

ERIC Educational Resources Information Center

Short, Ellen L.; Williams, Wendi S.

2014-01-01

This article will present two models for conducting group work with Women of Color (WOC): the SisterCircle Approach and the Group Relations Model. The authors contend that the models, when used together, combine an internal and external focus ("inside out") of group work that can assist group workers to conduct individual and group-level…

78 FR 15110 - Aviation Rulemaking Advisory Committee; Engine Bird Ingestion Requirements-New Task

Federal Register 2010, 2011, 2012, 2013, 2014

2013-03-08

...: During the bird-ingestion rulemaking database (BRDB) working group`s reevaluation of the current engine... engine core ingestion. If the BRDB working group`s reevaluation determines that such requirements are... Task ARAC accepted the task and will establish the Engine Harmonization Working Group (EHWG), under the...

Designing and Assessing Productive Group Work in Secondary Schools

ERIC Educational Resources Information Center

Vaca, Javier; Lapp, Diane; Fisher, Douglas

2011-01-01

A history teacher examines what is successful and not successful in group work in his high school classroom and gives concrete suggestions for improving group practice. Topics discussed include preparing students for group work, supporting collaboration, inviting critical analysis, and assessing both group and individual performance. (Contains 2…

Dealing with Parasites in Group Projects.

ERIC Educational Resources Information Center

Carter, Judy H.

While it is generally accepted that people working in groups can accomplish more than people working individually, it is equally accepted that parasites will attempt to feed on the other group members. Group work has been called by several names--group learning, cooperative learning, collaborative learning--all of which carry slightly different…

75 FR 34530 - Analysis by the President's Working Group on Financial Markets on the Long-Term Availability and...

Federal Register 2010, 2011, 2012, 2013, 2014

2010-06-17

... DEPARTMENT OF THE TREASURY Analysis by the President's Working Group on Financial Markets on the... insurance for terrorism risk. The President's Working Group on Financial Markets (established by Executive... his designee, is the Chairman of the President's Working Group on Financial Markets. As chair of the...

3 CFR 13650 - Executive Order 13650 of August 1, 2013. Improving Chemical Facility Safety and Security

Code of Federal Regulations, 2014 CFR

2014-01-01

... Working Group. (a) There is established a Chemical Facility Safety and Security Working Group (Working Group) co-chaired by the Secretary of Homeland Security, the Administrator of the Environmental... Secretary level or higher. In addition, the Working Group shall consist of the head of each of the following...

Teachers' and Students' Negotiation Moves When Teachers Scaffold Group Work

ERIC Educational Resources Information Center

González, Gloriana; DeJarnette, Anna F.

2015-01-01

Group work has been a main activity recommended by mathematics education reform. We aim at describing the patterns of interaction between teachers and students during group work. We ask: How do teachers scaffold group work during a problem-based lesson? We use data from a problem-based lesson taught in six geometry class periods by two teachers…

A Standards-Based Inventory of Foundation Competencies in Social Work with Groups

ERIC Educational Resources Information Center

Macgowan, Mark J.

2012-01-01

Objective: This article describes the development of a measure of foundation competencies in group work derived from the Standards for Social Work Practice with Groups. Developed by the Association for the Advancement of Social Work with Groups, the Standards have not been widely used. An instrument based on the Standards can help advance…

A Complex Systems Investigation of Group Work Dynamics in L2 Interactive Tasks

ERIC Educational Resources Information Center

Poupore, Glen

2018-01-01

Working with Korean university-level learners of English, this study provides a detailed analytical comparison of 2 task work groups that were video-recorded, with 1 group scoring very high and the other relatively low based on the results of a Group Work Dynamic (GWD) measuring instrument. Adopting a complexity theory (CT) perspective and…

Factors Affecting the Interest of Israeli Social Work Students in Working with Different Client Groups

ERIC Educational Resources Information Center

Krumer-Nevo, Michal; Weiss, Idit

2006-01-01

Employing a large-scale sample of 521 BSW students from 4 Israeli schools of social work, this research examines the factors affecting social work students' interest in working with a wide range of client groups. The results suggest that student interest in working with specific client groups is affected by factors related to desire for…

Outcome in patients admitted outside regular hospital working hours: does time until regular working hours matter?

PubMed

Nakajima, Makoto; Inatomi, Yuichiro; Yonehara, Toshiro; Watanabe, Masaki; Ando, Yukio

2015-01-01

The aim of this study was to investigate whether stratifying patients according to the time period from admission to the start of regular working hours would help detect a weekend effect in acute stroke patients. Ischemic stroke patients admitted between October 2002 and March 2012 were analyzed. Working hours were defined as 9:00-17:00 on weekdays. Patients were divided into those admitted during working hours (no-wait group) and three other groups according to the time from admission to working hours: ≤24 h (short-wait group), 24-48 h (medium-wait group), and >48 h (long-wait group). The modified Rankin Scale score and mortality at three-months were compared among the groups. Of 5625 patients, 3323 (59%) were admitted outside working hours. The proportion of patients with an mRS score 0-1 at three-months showed a decreasing trend with the time period before working hours: 47% (no-wait group), 42% (short-wait group), 42% (medium-wait group), and 38% (long-wait group), respectively (P < 0·001). When the no-wait group was used as a reference, the odds ratio for modified Rankin Scale score 0-1 was 0·88 (95% confidence interval, 0·75-1·04) in the short-wait group, 0·86 (0·69-1·07) in the medium-wait group, and 0·67 (0·53-0·85) in the long-wait group after adjusting for sex, age, premorbid mRS score, previous morbidity, stroke severity, and vascular risk factors. Mortality at three-months was not different between the no-wait group and the other groups. A weekend effect might be evident if patients were stratified according to the time period from admission until working hours. © 2014 World Stroke Organization.

Work-family conflicts and work performance.

PubMed

Roth, Lawrence; David, Emily M

2009-08-01

Prior research indicates that work-family conflict interferes with family far more than it interferes with work. Conservation of resources provides a possible explanation: when shifting resources from family is no longer sufficient to maintain satisfactory work performance, then workers must acquire additional resources or reduce investments in work. One source of such additional resources could be high performance peers in the work group. The performance of workers with resource-rich peers may be less adversely affected by work-family conflict. In this study, 136 employees of a wholesale distribution firm (61% women, 62% minority) working in groups of 7 to 11 in manual labor and low-level administrative jobs rated their own work-to-family conflict. Their supervisors rated workers' performance. Hierarchical regression analysis indicated that work-to-family conflict increasingly adversely affected job performance as work group performance decreased. Hence, work group performance may be an important moderator of the effects of work-family conflict.

2010 Chemical Working Group Status

NASA Technical Reports Server (NTRS)

Reid, Concha M.

2010-01-01

The Steering Group for the Interagency Advanced Power Group (IAPG) held their business meeting on November 30-December 1st in McLean, Virginia. Status reports were presented from each of the IAPG's Working Groups. These charts contain a brief summary of the IAPG Chemical Working Group's activities during 2010 and its plans for 2011.

Letting the Drama into Group Work: Using Conflict Constructively in Performing Arts Group Practice

ERIC Educational Resources Information Center

Crossley, Tracy

2006-01-01

The article examines conflict avoidance in performing arts group work and issues arising in relation to teaching and learning. In group theory, conflict is addressed largely in terms of its detrimental effects on group work, and its constructive potential is often marginalized. Similarly, undergraduate students usually interpret "effective…

Exploring Students' Group Work Needs in the Context of Internationalisation Using a Creative Visual Method

ERIC Educational Resources Information Center

Cox, Andrew; Chiles, Prue; Care, Leo

2012-01-01

While UK universities see group work as essential to building higher order intellectual and team skills, many international students are unfamiliar with this way of studying. Group work is also a focus of home students' concerns. Cultural differences in the interpretation of space for learning or how spatial issues affect group work processes has…

Causal Relationships between Communication Confidence, Beliefs about Group Work, and Willingness to Communicate in Foreign Language Group Work

ERIC Educational Resources Information Center

Fushino, Kumiko

2010-01-01

This article reports on the causal relationships between three factors in second language (L2) group work settings: communication confidence (i.e., confidence in one's ability to communicate), beliefs about group work, and willingness to communicate (WTC). A questionnaire was administered to 729 first-year university students in Japan. A model…

77 FR 6796 - Notification of Three Public Teleconferences of a Work Group of the Chartered Science Advisory Board

Federal Register 2010, 2011, 2012, 2013, 2014

2012-02-09

... Work Group of the Chartered Science Advisory Board AGENCY: Environmental Protection Agency (EPA... teleconferences of a work group of the Chartered Science Advisory Board to discuss the President's FY 2013 Budget...), 5 U.S.C., App. 2. Pursuant to FACA and EPA policy, notice is hereby given that a work group of the...

Impact of dry eye on work productivity.

PubMed

Yamada, Masakazu; Mizuno, Yoshinobu; Shigeyasu, Chika

2012-01-01

The purpose of this study was to evaluate the impact of dry eye on work productivity of office workers, especially in terms of presenteeism. A total of 396 individuals aged ≥20 years (258 men and 138 women, mean age 43.4 ± 13.0 years) were recruited through an online survey. Data from 355 responders who did not have missing values were included in the analysis. They were classified into the following four groups according to the diagnostic status and subjective symptoms of dry eye: a definite dry eye group; a marginal dry eye group; a self-reported dry eye group; and a control group. The impact of dry eye on work productivity was evaluated using the Japanese version of the Work Limitations Questionnaire. The cost of work productivity loss associated with dry eye and the economic benefits of providing treatment for dry eye were also assessed. The degree of work performance loss was 5.65% in the definite dry eye group, 4.37% in the marginal dry eye group, 6.06% in the self-reported dry eye group, and 4.27% in the control group. Productivity in the self-reported dry eye group was significantly lower than that in the control group (P < 0.05). The annual cost of work productivity loss associated with dry eye was estimated to be USD 741 per person. Dry eye impairs work performance among office workers, which may lead to a substantial loss to industry. Management of symptoms of dry eye by providing treatment may contribute to improvement in work productivity.

Loss of p300 and CBP disrupts histone acetylation at the mouse Sry promoter and causes XY gonadal sex reversal

PubMed Central

Carré, Gwenn-Aël; Siggers, Pam; Xipolita, Marilena; Brindle, Paul; Lutz, Beat; Wells, Sara; Greenfield, Andy

2018-01-01

Abstract CREB-binding protein (CBP, CREBBP, KAT3A) and its closely related paralogue p300 (EP300, KAT3B), together termed p300/CBP, are histone/lysine acetyl-transferases that control gene expression by modifying chromatin-associated proteins. Here, we report roles for both of these chromatin-modifying enzymes in mouse sex determination, the process by which the embryonic gonad develops into a testis or an ovary. By targeting gene ablation to embryonic gonadal somatic cells using an inducible Cre line, we show that gonads lacking either gene exhibit major abnormalities of XY gonad development at 14.5 dpc, including partial sex reversal. Embryos lacking three out of four functional copies of p300/Cbp exhibit complete XY gonadal sex reversal and have greatly reduced expression of the key testis-determining genes Sry and Sox9. An analysis of histone acetylation at the Sry promoter in mutant gonads at 11.5 dpc shows a reduction in levels of the positive histone mark H3K27Ac. Our data suggest a role for CBP/p300 in testis determination mediated by control of histone acetylation at the Sry locus and reveal a novel element in the epigenetic control of Sry and mammalian sex determination. They also suggest possible novel causes of human disorders of sex development (DSD). PMID:29145650

Steroidogenic Factor-1 (SF-1, Ad4BP, NR5A1) and Disorders of Testis Development

PubMed Central

Lin, L.; Achermann, J.C.

2009-01-01

Steroidogenic factor-1 (SF-1) (Ad4BP, NR5A1) is a nuclear receptor that regulates many aspects of adrenal and reproductive development and function. Consequently, deletion of the gene (Nr5a1) encoding Sf-1 in XY mice results in impaired adrenal development, complete testicular dysgenesis with Müllerian structures, and female external genitalia. Initial efforts to identify NR5A1 changes in humans focused on 46,XY individuals with combined adrenogonadal failure and Müllerian structures. Although this combination of clinical features is rare, 2 such patients harboring NR5A1 mutations have been described within the past decade. More recently, however, it has emerged that heterozygous loss of function mutations in NR5A1 can be found relatively frequently in children and adults with 46,XY disorders of sex development (DSD) but with apparently normal adrenal function. The phenotypic spectrum associated with these changes ranges from complete testicular dysgenesis with Müllerian structures, through individuals with mild clitoromegaly or genital ambiguity, to severe penoscrotal hypospadias or even anorchia. Furthermore, a non-synonymous polymorphism in NR5A1 may be associated with micropenis or undescended testes within the population. Taken together, these reports suggest that variable loss of SF-1 function can be associated with a wide range of reproductive phenotypes in humans. PMID:18987494

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.

Space Technology Plasma Issues in 2001

NASA Technical Reports Server (NTRS)

Garrett, Henry (Editor); Feynman, Joan (Editor); Gabriel, Stephen (Editor)

1986-01-01

The purpose of the workshop was to identify and discuss plasma issues that need to be resolved during the next 10 to 20 years (circa 2001) to facilitate the development of the advanced space technology that will be required 20 or 30 years into the future. The workshop consisted of 2 days of invited papers and 2 sessions of contributed poster papers. During the third day the meeting broke into 5 working groups, each of which held discussions and then reported back to the conference as a whole. The five panels were: Measurements Technology and Active Experiments Working Group; Advanced High-Voltage, High-Power and Energy-Storage Space Systems Working Group; Large Structures and Tethers Working Group; Plasma Interactions and Surface/Materials Effects Working Group; and Beam Plasmas, Electronic Propulsion and Active Experiments Using Beams Working Group.

Use of focus groups to study absenteeism due to illness.

PubMed

Høverstad, T; Kjølstad, S

1991-10-01

Reasons for sick leaves are often complex and influenced by nonmedical factors. We have used focus groups, a qualitative research method, to study the relationship between working conditions and absenteeism due to illness in both an industrial company and an insurance company. We organized 10 focus groups within each company, with participants randomly selected from departments having similar work tasks within each company. According to the groups, the most important working conditions that influenced absenteeism were (a) feeling of well-being at work (mainly defined as security in social relations), (b) the organization of the work, and (c) the department leader. Factors considered to be less important included: number of employees, male/female ratios, group norms for absenteeism, age distribution, work-related illness, substance abuse, and work loads. There was substantial agreement between the groups, indicating that our findings may be relevant to other companies.

Food and nutrient intake among workers with different shift systems.

PubMed

Hemiö, Katri; Puttonen, Sampsa; Viitasalo, Katriina; Härmä, Mikko; Peltonen, Markku; Lindström, Jaana

2015-07-01

Over 20% of employees in Europe work in shifts. Shift work increases the risk for chronic diseases, but a healthy lifestyle may attenuate the adverse effect of shift work. The aim of this study was to explore food and nutrient intake differences between working time groups. The participants were 1478 employees (55% of men) of an airline divided into three working time groups: day work (n=608), shift work without in-flight work (n=541) and in-flight work (n=329). Measures included laboratory tests, physical measurements, a questionnaire, and food and nutrient intake estimations by a validated 16-item food intake questionnaire. Shift working men were less likely to consume vegetables (p<0.001) and fruits (p=0.049) daily than male day and in-flight workers. In women, energy intake from saturated fat was higher among shift workers compared with day workers (12.6 vs 12.2 E%, p=0.023). In older female participants, energy intake from fat and saturated fat was higher in the shift work and in-flight work groups than in the day work group (p<0.001). In this study, shift work and working environment were associated with dietary habits, and this association was not explained by other characteristics such as workers' educational level. Shift workers' increased risk for chronic diseases should be taken into account and lifestyle counselling including advice in nutrition should be incorporated in routine occupational healthcare of shift workers. 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.

Individual and group-level job resources and their relationships with individual work engagement.

PubMed

Füllemann, Désirée; Brauchli, Rebecca; Jenny, Gregor J; Bauer, Georg F

2016-06-16

This study adds a multilevel perspective to the well-researched individual-level relationship between job resources and work engagement. In addition, we explored whether individual job resources cluster within work groups because of a shared psychosocial environment and investigated whether a resource-rich psychosocial work group environment is beneficial for employee engagement over and above the beneficial effect of individual job resources and independent of their variability within groups. Data of 1,219 employees nested in 103 work groups were obtained from a baseline employee survey of a large stress management intervention project implemented in six medium and large-sized organizations in diverse sectors. A variety of important job resources were assessed and grouped to an overall job resource factor with three subfactors (manager behavior, peer behavior, and task-related resources). Data were analyzed using multilevel random coefficient modeling. The results indicated that job resources cluster within work groups and can be aggregated to a group-level job resources construct. However, a resource-rich environment, indicated by high group-level job resources, did not additionally benefit employee work engagement but on the contrary, was negatively related to it. On the basis of this unexpected result, replication studies are encouraged and suggestions for future studies on possible underlying within-group processes are discussed. The study supports the presumed value of integrating work group as a relevant psychosocial environment into the motivational process and indicates a need to further investigate emergent processes involved in aggregation procedures across levels.

Reading Balint group work through Lacan's theory of the four discourses.

PubMed

Van Roy, Kaatje; Marché-Paillé, Anne; Geerardyn, Filip; Vanheule, Stijn

2016-02-05

In Balint groups, (para)medical professionals explore difficult interactions with patients by means of case presentations and discussions. As the process of Balint group work is not well understood, this article investigates Balint group meetings by making use of Lacan's theory of the four discourses. Five Balint group case presentations and their subsequent group discussion were studied, resulting in the observation of five crucial aspects of Balint group work. First, Balint group participants brought puzzlement to the group, which is indicative of the structural impossibility Lacan situates at the basis of all discourse (1). As for the group discussion, we emphasize 'hysterization' as a crucial process in Balint group work (2), the supporting role of the discourse of the analyst (3) and the centrality of discourse interactions (4). Finally, the potential transformation of the initial puzzlement is discussed (5). We conclude by putting forth the uniqueness of Balint group work as well as the potential usefulness of our analysis as a framework for Balint group leaders and professionals in charge of continuing medical education. © The Author(s) 2016.

Work-Anxiety and Sickness Absence After a Short Inpatient Cognitive Behavioral Group Intervention in Comparison to a Recreational Group Meeting.

PubMed

Muschalla, Beate; Linden, Michael; Jöbges, Michael

2016-04-01

The aim of this study was to study the effects of a short-term cognitive behavior therapy on work-anxiety and sickness-absence in patients with work-anxiety. Three-hundred forty-five inpatients who suffered from cardiologic, neurological, or orthopedic problems and additionally work-anxiety were randomly assigned into two different group interventions. Patients got four sessions of a group intervention, which either focused on cognitive behavior-therapy anxiety-management (work-anxiety coping group, WAG) or unspecific recreational activities (RG). No differences were found between WAG and RG for work-anxiety and subjective work ability. When looking at patients who were suffering only from work-anxiety, and no additional mental disorder, the duration of sickness absence until 6 months follow-up was shorter in the WAG (WAG: 11 weeks, RG: 16 weeks, P = 0.050). A short-term WAG may help return to work in patients with work-anxieties, as long as there is no comorbid mental disorder.

"Journal for Specialists in Group Work" ("JSGW") Publication Pattern Review: A Meta-Study of Author and Article Characteristics from 1981-2010

ERIC Educational Resources Information Center

Byrd, Rebekah; Crockett, Stephanie A.; Erford, Bradley T.

2012-01-01

"The Journal for Specialists in Group Work" ("JSGW") is the journal of the Association for Specialists in Group Work (ASGW), a division of the American Counseling Association (ACA). "JSGW" publishes articles related to "group work theory, interventions, training, current issues, and research" (ASGW, 2011). "JSGW" was first published in 1976 and is…

The Forest Genetic Resources Working Group of the North American Forestry Commission (FAO)

Treesearch

Ronald C. Schmidtling

2002-01-01

The Forest Genetic Resources Working Group (FGRWG) is one of seven working groups established by the North American Forest Commission (NAFC). The NAFC is one of six Forest Commissions established by the Food and Agriculture Organization (F-40). The FGRWG was established by the NAFC in 1961 as the Working Group on Forest Tree Improvement but went through several-changes...

How Much "Group" Is There in Online Group Work?

ERIC Educational Resources Information Center

Lowes, Susan

2014-01-01

The ability to work in groups across time and space has become a frequent requirement for the workplace and is increasingly common in higher education, but there is a surprising lack of research on how online groups work. This research applies analytic approaches used in studies of face-to-face classroom "talk" to multiple groups in two…

77 FR 17569 - United States-Canada Regulatory Cooperation Council (RCC)-Transportation-Dangerous Goods Working...

Federal Register 2010, 2011, 2012, 2013, 2014

2012-03-26

... identified in the Joint Action Plan, the Transportation--Dangerous Goods Working Group led by senior...)-- Transportation--Dangerous Goods Working Group AGENCY: Pipeline and Hazardous Materials Safety Administration...--Dangerous Goods Working Group, of the United States-Canada Regulatory Cooperation Council (RCC). Comments...

The working alliance in a randomized controlled trial comparing online with face-to-face cognitive-behavioral therapy for depression

PubMed Central

2011-01-01

Background Although numerous efficacy studies in recent years have found internet-based interventions for depression to be effective, there has been scant consideration of therapeutic process factors in the online setting. In face-to face therapy, the quality of the working alliance explains variance in treatment outcome. However, little is yet known about the impact of the working alliance in internet-based interventions, particularly as compared with face-to-face therapy. Methods This study explored the working alliance between client and therapist in the middle and at the end of a cognitive-behavioral intervention for depression. The participants were randomized to an internet-based treatment group (n = 25) or face-to-face group (n = 28). Both groups received the same cognitive behavioral therapy over an 8-week timeframe. Participants completed the Beck Depression Inventory (BDI) post-treatment and the Working Alliance Inventory at mid- and post- treatment. Therapists completed the therapist version of the Working Alliance Inventory at post-treatment. Results With the exception of therapists' ratings of the tasks subscale, which were significantly higher in the online group, the two groups' ratings of the working alliance did not differ significantly. Further, significant correlations were found between clients' ratings of the working alliance and therapy outcome at post-treatment in the online group and at both mid- and post-treatment in the face-to-face group. Correlation analysis revealed that the working alliance ratings did not significantly predict the BDI residual gain score in either group. Conclusions Contrary to what might have been expected, the working alliance in the online group was comparable to that in the face-to-face group. However, the results showed no significant relations between the BDI residual gain score and the working alliance ratings in either group. Trial registration ACTRN12611000563965 PMID:22145768

Student perception of group dynamics predicts individual performance: Comfort and equity matter

PubMed Central

Theobald, Elli J.; Eddy, Sarah L.; Grunspan, Daniel Z.; Wiggins, Benjamin L.

2017-01-01

Active learning in college classes and participation in the workforce frequently hinge on small group work. However, group dynamics vary, ranging from equitable collaboration to dysfunctional groups dominated by one individual. To explore how group dynamics impact student learning, we asked students in a large-enrollment university biology class to self-report their experience during in-class group work. Specifically, we asked students whether there was a friend in their group, whether they were comfortable in their group, and whether someone dominated their group. Surveys were administered after students participated in two different types of intentionally constructed group activities: 1) a loosely-structured activity wherein students worked together for an entire class period (termed the ‘single-group’ activity), or 2) a highly-structured ‘jigsaw’ activity wherein students first independently mastered different subtopics, then formed new groups to peer-teach their respective subtopics. We measured content mastery by the change in score on identical pre-/post-tests. We then investigated whether activity type or student demographics predicted the likelihood of reporting working with a dominator, being comfortable in their group, or working with a friend. We found that students who more strongly agreed that they worked with a dominator were 17.8% less likely to answer an additional question correct on the 8-question post-test. Similarly, when students were comfortable in their group, content mastery increased by 27.5%. Working with a friend was the single biggest predictor of student comfort, although working with a friend did not impact performance. Finally, we found that students were 67% less likely to agree that someone dominated their group during the jigsaw activities than during the single group activities. We conclude that group activities that rely on positive interdependence, and include turn-taking and have explicit prompts for students to explain their reasoning, such as our jigsaw, can help reduce the negative impact of inequitable groups. PMID:28727749

Health Transportation Working Group 2016 Annual Report

DOT National Transportation Integrated Search

2017-06-30

The Health in Transportation Working Group 2016 Annual Report provides an overview of the Working Groups activities and accomplishments in 2016, summarizes other USDOT health-related accomplishments, and documents its progress toward the recommend...

The Physics and Applications of High Brightness Beams: Working Group C Summary on Applications to FELS

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

Nuhn, Heinz-Dieter

2003-03-19

This is the summary of the activities in working group C, ''Application to FELs,'' which was based in the Bithia room at the Joint ICFA Advanced Accelerator and Beam Dynamics Workshop on July 1-6, 2002 in Chia Laguna, Sardinia, Italy. Working group C was small in relation to the other working groups at that workshop. Attendees include Enrica Chiadroni, University of Rome ape with an identical pulse length. ''La Sapienza'', Luca Giannessi, ENEA, Steve Lidia, LBNL, Vladimir Litvinenko, Duke University, Patrick Muggli, UCLA, Alex Murokh, UCLA, Heinz-Dieter Nuhn, SLAC, Sven Reiche, UCLA, Jamie Rosenzweig, UCLA, Claudio Pellegrini, UCLA, Susan Smith,more » Daresbury Laboratory, Matthew Thompson, UCLA, Alexander Varfolomeev, Russian Research Center, plus a small number of occasional visitors. The working group addressed a total of nine topics. Each topic was introduced by a presentation, which initiated a discussion of the topic during and after the presentation. The speaker of the introductory presentation facilitated the discussion. There were six topics that were treated in stand-alone sessions of working group C. In addition, there were two joint sessions, one with working group B, which included one topic, and one with working group C, which included two topics. The presentations that were given in the joint sessions are summarized in the working group summary reports for groups B and D, respectively. This summary will only discuss the topics that were addressed in the stand-alone sessions, including Start-To-End Simulations, SASE Experiment, PERSEO, ''Optics Free'' FEL Oscillators, and VISA II.« less

Work experiences among attendees of day centres for people with psychiatric disabilities.

PubMed

Eklund, Mona; Sandlund, Mikael

2015-01-01

It is possible that people with psychiatric disabilities who visit day centres have previous work experiences that may be seen as resources for their current engagement in day centre activities. Research in this respect seems to lack, however. To investigate work experiences among attendees at day centres for people with psychiatric disabilities and relationships with current type of day centre (work-oriented, meeting place-oriented or mixed), engagement in day centre activities, motivation and socio-demographic and health-related factors. Seventy-seven attendees responded to questionnaires. Global Assessment of Functioning, GAF, was also used. Work was categorised into Group I (professionals, semi-professionals), Group II (clerical support, services workers) and Group III (e.g. craft workers, elementary occupations). Almost everyone had previously had open-market employment; more than half for ≥ 10 years. Group I was more common in mixed centres, Group II in meeting place-oriented ones and Group III in work-oriented ones. Group I more frequently had college degree and was rated high on GAF functioning. Women were over-represented in Group II, and men in Group III and in meeting place-oriented centres. Attending mixed centres was more likely when having a college degree, scoring high on GAF functioning and being highly engaged in activities. Attendees at work-oriented day centres were characterised by being motivated for spending time alone and reporting a diagnosis of psychosis. The participants had unused working capacity. No clear-cut relationships were found between work experiences and the investigated correlates.

Technologies That Assist in Online Group Work: A Comparison of Synchronous and Asynchronous Computer Mediated Communication Technologies on Students' Learning and Community

ERIC Educational Resources Information Center

Rockinson-Szapkiw, Amanda; Wendt, Jillian

2015-01-01

While the benefits of online group work completed using asynchronous CMC technology is documented, researchers have identified a number of challenges that result in ineffective and unsuccessful online group work. Fewer channels of communication and lack of immediacy when compared to face-to-face group work are a few of the noted limitations. Thus,…

Can the Enhancement of Group Working in Classrooms Provide a Basis for Effective Communication in Support of School-Based Cognitive Achievement in Classrooms of Young Learners?

ERIC Educational Resources Information Center

Kutnick, Peter; Berdondini, Lucia

2009-01-01

This quasi-experimental study was part of the SPRinG project (Social Pedagogy Research into Group Work). The review notes group work in "authentic" classrooms rarely fulfils its interactive or attainment potential. SPRinG classes undertook a programme of relational training to enhance children's group working skills while control classes…

Introduction to NASA Living With a Star (LWS) Institute GIC Working Group Special Collection

NASA Technical Reports Server (NTRS)

Pulkkinen, A.

2017-01-01

This paper is a brief introduction to the NASA Living With a Star (LWS) Institute GIC Working Group Special Collection that is product of work by a group of researchers from more than 20 different international organizations. In this introductory paper, I summarize the group's work in the context of novel NASA LWS Institute element and introduce the individual contributions in the collection.

Status of Laser/Lidar Working Group Requirements

NASA Technical Reports Server (NTRS)

Kavaya, Michael J.; Gentry, Bruce M.

2006-01-01

This viewgraph presentation reviews the status of the development of the requirements by the Laser/Lidar working group. Included in the presentation is another viewgraph report on the NASA Earth Science Technology Office (ESTO) Laser/Lidar working group, by the chairperson of the working group. Some of the uses of Laser and Lidar in earth sciences are reviewed and a roadmap for the future use of the technology is included.