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Search Results: 1 - 10 of 8685 matches for " Elizabeth Wohler "
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Whole-Genome Sequencing of a Single Proband Together with Linkage Analysis Identifies a Mendelian Disease Gene
Nara L. M. Sobreira equal contributor,Elizabeth T. Cirulli equal contributor,Dimitrios Avramopoulos equal contributor,Elizabeth Wohler,Gretchen L. Oswald,Eric L. Stevens,Dongliang Ge,Kevin V. Shianna,Jason P. Smith,Jessica M. Maia,Curtis E. Gumbs,Jonathan Pevsner,George Thomas,David Valle ?,Julie E. Hoover-Fong ?,David B. Goldstein ?
PLOS Genetics , 2010, DOI: 10.1371/journal.pgen.1000991
Abstract: Although more than 2,400 genes have been shown to contain variants that cause Mendelian disease, there are still several thousand such diseases yet to be molecularly defined. The ability of new whole-genome sequencing technologies to rapidly indentify most of the genetic variants in any given genome opens an exciting opportunity to identify these disease genes. Here we sequenced the whole genome of a single patient with the dominant Mendelian disease, metachondromatosis (OMIM 156250), and used partial linkage data from her small family to focus our search for the responsible variant. In the proband, we identified an 11 bp deletion in exon four of PTPN11, which alters frame, results in premature translation termination, and co-segregates with the phenotype. In a second metachondromatosis family, we confirmed our result by identifying a nonsense mutation in exon 4 of PTPN11 that also co-segregates with the phenotype. Sequencing PTPN11 exon 4 in 469 controls showed no such protein truncating variants, supporting the pathogenicity of these two mutations. This combination of a new technology and a classical genetic approach provides a powerful strategy to discover the genes responsible for unexplained Mendelian disorders.
Improved transport equations including correlations for electron-phonon systems. Comparison with exact solutions in one dimension
J. Fricke,V. Meden,C. Wohler,K. Schonhammer
Physics , 1996, DOI: 10.1006/aphy.1997.5623
Abstract: We study transport equations for quantum many-particle systems in terms of correlations by applying the general formalism developed in an earlier paper to exactly soluble electron-phonon models. The one-dimensional models considered are the polaron model with a linear energy dispersion for the electrons and a finite number of electrons and the same model including a Fermi sea (Tomonaga-Luttinger model). The inclusion of two-particle correlations shows a significant and systematic improvement in comparison with the usual non-Markovian equations in Born approximation. For example, the improved equations take into account the renormalization of the propagation by the self-energies to second order in the coupling.
Family Structure and Psychological Health in Young Adults  [PDF]
Tony Cassidy, Elizabeth Wright, Elizabeth Noon
Psychology (PSYCH) , 2014, DOI: 10.4236/psych.2014.510129
Abstract:

This study explored the effect of the gendered structure of siblings in intact and non-intact families, on family relations, social support, perceived control, and psychological distress in a sample of 708 young adults (294 males and 414 females) aged between 18 - 21 years. Of the sample 96 were singletons, 208 had both a brother and sister, 206 had a brother and no sister, and 198 had a sister and no brother. While the results show that both the gender of the participants and the gender of the sibling seem to impact on distress and its mediators; the more important factor is the gender of siblings. In essence the presence of a female sibling is associated with more perceived support, control and optimism, and with lower pessimism and psychological distress. The presence of a female is also associated with better family relations overall and it is suggested that the main mechanism for this positive impact of female siblings is through the lowered conflict and increased expressiveness and cohesion experienced in female versus male dominated sibling groups.

Cancer incidence among Hispanic children in the United States
Wilkinson,James D.; Gonzalez,Alex; Wohler-Torres,Brad; Fleming,Lora E.; MacKinnon,Jill; Trapido,Edward; Button,Jaclyn; Peace,Steven;
Revista Panamericana de Salud Pública , 2005, DOI: 10.1590/S1020-49892005000600002
Abstract: objective: to directly compare cancer incidence among hispanic children and non-hispanic white children in california and florida, two states in the united states of america that include nearly one in three hispanic children in the country. methods: cross-sectional data for 1988 through 1998 pertaining to all incident pediatric cancer cases (age < 15 years) with race/ethnicity coded as either hispanic or non-hispanic white came from the florida cancer data system database and the california cancer registry database. the results were expressed as age-standardized incidence rates, standardized to the world standard million population. hispanic rates and non-hispanic white rates were compared using standardized incidence ratios (sirs) with 95% confidence intervals (95% cis.). results: the sir for all cancers for hispanic children compared to non-hispanic white children was 1.02 (95% ci: 0.99, 1.05). for selected tumor types, sirs indicated higher incidences among hispanic children for leukemia (sir = 1.26; 95% ci: 1.19, 1.34), hodgkin's lymphoma (sir = 1.29; 95% ci: 1.08, 1.54), and germ cell tumors (sir = 1.62; 95% ci: 1.34, 1.96). there were lower incidences for the hispanic children for central nervous system tumors (sir = 0.72; 95% ci: 0.66, 0.78) and for sympathetic nervous system tumors (sir = 0.76; 95% ci: 0.66, 0.87). in terms of interstate differences, the incidence of lymphoma, central nervous system tumors, sympathetic nervous system tumors, and malignant bone tumors was highest among hispanic youth in florida; the incidence of hepatic tumors was highest among hispanic youth in california. conclusions: while the overall cancer incidence rate among hispanic children was similar to that for non-hispanic white children, significant differences for specific tumor types were identified. since hispanic ethnicity may be a confounder for other cancer risk factors (e.g., familial, socioeconomic, or environmental), it is recommended that future research into hispanic
Design of Sharp 2D Multiplier-Less Circularly Symmetric FIR Filter Using Harmony Search Algorithm and Frequency Transformation  [PDF]
Manju Manuel, Elizabeth Elias
Journal of Signal and Information Processing (JSIP) , 2012, DOI: 10.4236/jsip.2012.33044
Abstract: In this paper, we present a novel and efficient method for the design of a sharp, two dimensional (2D) wideband, circularly symmetric, FIR filter. First of all, a sharp one dimensional (1D) infinite precision FIR filter is designed using the Frequency Response Masking (FRM) technique. This filter is converted into a multiplier-less filter by representing it in the Canonic Signed Digit (CSD) space. The design of the FRM filter in the CSD space calls for the use of a discrete optimization technique. To this end, a new optimization approach is proposed using a modified Harmony Search Algorithm (HSA). HSA is modified in such a way that, in every exploitation and exploration phase, the candidate solutions turns out to be integers. The 1D FRM multiplier-less filter, is in turn transformed to the 2D equivalent using the recently proposed multiplier-less transformations namely, T1 and T2. These transformations are successful in generating circular contours even for wideband filters. Since multipliers are the most power consuming elements in a 2D filter, the multiplier-less realization calls for reduced power consumption as well as computation time. Significant reduction in the computational complexity and computation time are the highlights of our proposed design technique. Besides, the proposed discrete optimization using modified HSA can be used to solve optimization problems in other engineering disciplines, where the search space consists of integers.
Ramifications Associated with Child Abuse  [PDF]
Hannah Mills, Elizabeth McCarroll
Advances in Applied Sociology (AASoci) , 2012, DOI: 10.4236/aasoci.2012.24036
Abstract: The incidence of child abuse has become quite prevalent and may be referred to as a global phenomenon (Pala, Unalacak, & Unluoglu, 2011). In terms of a global phenomenon, it may be significant to assess negative ramifications that are in existence for children’s overall social, emotional, and cognitive maturation (DeOliveira, Bailey, Moran, & Pederson, 2004). Specifically, preschool children who are abused within their home environments are less likely to detect variations in emotional expressions as compared to preschoolers who have not been abused (Pollak, Cicchetti, Hornung, & Reed, 2000). In regards to the domain of cognitive development, children who are reared in abusive home environments are likely to display overactive behaviors and exhibit less concentration (Schatz, Smith, Borkowski, Whitman, & Keogh, 2008). In relation, children reared in abusive environments are less likely to perform at high levels in regards to their math and reading abilities (Crozer & Barth, 2005). Thus, the act of child abuse may also be better well understood by assessing parenting styles and how they play a role with affecting the type of behaviors they elicit towards their children (Baumrind, 1994). For instance, specific traits or factors related to individuals’ parenting abilities, such as stress, depression, domestic violence, incarceration, and psychological difficulties may be more likely to abuse their children as opposed to parents who do not obtain these traits or factors (Nair, Schular, Black, Kettinger, & Harrington, 2003). Implications in regards to the prevalence of child abuse may be quite significant, especially considering psychological ramifications that may surface due to the act of children’s exposure to abuse (Johnson et al., 2002). For instance, children may be more likely to suppress, or internalize their emotions due to the exposure to child abuse and they may be more likely to externalize, or exhibit certain behaviors in an outward fashion towards others due to the immersion within environments comprised of child abuse (Schatz, Smith, Borkowski, Whitman, & Keogh, 2008). Furthermore, professionals who obtain the knowledge about child abuse may better serve families and children who have experienced abuse within their lives.
Popularity, likeability, and risk-taking in middle adolescence  [PDF]
Stephanie Hawke, Elizabeth Rieger
Health (Health) , 2013, DOI: 10.4236/health.2013.56A3007
Abstract:

This study investigated the roles of adolescent popularity and likeability in eight domains of risk-taking in Australian grade 9 students (53% girls). The eight domains included previously examined areas of aggressive behaviours, alcohol use, and sexual intercourse, and areas where there is scarce information, including antisocial activities, unprotected intercourse, body image-related risk-taking, unsafe road practices, and stranger-related risk-taking. The results indicated a clear association between popularity and higher risk-taking in five of the eight domains. This is contrasted with likeability, which was not directly related to risk-taking aside from one two-way interaction with gender for sexual intercourse. The findings demonstrate the importance of including a broader range of risk-taking activities when considering popularity, particularly stranger-related risk-taking.

Extremes of Severe Storm Environments under a Changing Climate  [PDF]
Elizabeth Mannshardt, Eric Gilleland
American Journal of Climate Change (AJCC) , 2013, DOI: 10.4236/ajcc.2013.23A005
Abstract:

One of the more critical issues in a changing climate is the behavior of extreme weather events, such as severe tornadic storms as seen recently in Moore and El Reno, Oklahoma. It is generally thought that such events would increase under a changing climate. How to evaluate this extreme behavior is a topic currently under much debate and investigation. One approach is to look at the behavior of large scale indicators of severe weather. The use of the generalized extreme value distribution for annual maxima is explored for a combination product of convective available potential energy and wind shear. Results from this initial study show successful modeling and high quantile prediction using extreme value methods. Predicted large scale values are consistent across different extreme value modeling frameworks, and a general increase over time in predicted values is indicated. A case study utilizing this methodology considers the large scale atmospheric indicators for the region of Moore, Oklahoma for Class EF5 tornadoes on May 3, 1999 and more recently on May 20, 2013, and for the class EF5 storm in El Reno, Oklahoma on May 31, 2013.

What Does “Noise Pollution” Mean?  [PDF]
Alice Elizabeth González
Journal of Environmental Protection (JEP) , 2014, DOI: 10.4236/jep.2014.54037
Abstract:

Noise features different characteristics that make it different from every other “classic” pollutant. Noise is invisible; it does not smell; it disappears when the source is turned off and leaves no traces in the environment. In addition, when people perceive something wrong about their hearing capacity, it is often long time after the beginning of noise exposure. This fact contributes to strengthening the misconception that noise is not harmful to human health or, at least, efforts and funds aim preferably at controling and decreasing the emission of other pollutants. Adding to this, most people tend to consider that noise is the price to pay for accessing to the amenities of the Technological Era and it is indivisible and inevitably linked to them. Last but not least, noise pollution could adversely affect ecosystems and ecological services. Then, how is it possible to convince the decision makers that noise pollution is one of the major current environmental problems? The aim of this paper is to discuss step by step the applicability of noise of a “pollution” definition, as a way to ease the understanding that lowering environmental noise levels should be prioritized: because it will lead to a healthier and better society.

Maternal Mortality and Morbidity Will Not Reduce in Low Resource Countries without the Anaesthetists’ Involvement  [PDF]
Elizabeth Ogboli-Nwasor
Open Journal of Obstetrics and Gynecology (OJOG) , 2014, DOI: 10.4236/ojog.2014.45037
Abstract:

Background: Maternal and foetal mortality is unacceptably high in most resource-limited countries and the practice of obstetric anaesthesia has an important influence on outcome for both mother and baby. The much needed close co-operation and collaboration between obstetricians and obstetric anaesthetist providers is crucial for the safety and comfort of parturients, particularly in low-resource environments. The current global maternal mortality is approximately 400 per 100,000 deliveries, with a range of 7 - 740 deaths per 100,000, demonstrating the inequality between the rich and poor countries. Many of the deaths could have been prevented by better essential obstetrics services including safe anaesthesia and surgery, provided such services are made available in a timely manner. Conclusion: Maternal mortality in low resource countries has its basis complex social, economic and political factors, underpinned by a lack of resources. Many of these factors are difficult and slow to resolve and are not specific to maternal health. Comprehensive essential obstetric care services at the district hospital level (first referral level) should include all the above plus safe surgery, safe anaesthesia, and blood transfusion. Government, donor agencies and all stakeholders must recognize the crucial role of anaesthesia in providing emergency obstetric care in hospitals. Advocacy by all concerned will help direct the scarce resources to the appropriate areas of need which includes provision of adequate facilities and manpower for safe anaesthesia.

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