188 research outputs found
<i>MED27</i> Variants Cause Developmental Delay, Dystonia, and Cerebellar Hypoplasia
No full textThe Mediator multiprotein complex functions as a regulator of RNA polymerase II-catalyzed gene transcription. In this study, exome sequencing detected biallelic putative disease-causing variants in MED27, encoding Mediator complex subunit 27, in 16 patients from 11 families with a novel neurodevelopmental syndrome. Patient phenotypes are highly homogeneous, including global developmental delay, intellectual disability, axial hypotonia with distal spasticity, dystonic movements, and cerebellar hypoplasia. Seizures and cataracts were noted in severely affected individuals. Identification of multiple patients with biallelic MED27 variants supports the critical role of MED27 in normal human neural development, particularly for the cerebellum. ANN NEUROL 2021;89:828-833.sponsorship: N.E.M. is supported by a Parkinson's Foundation grant. P.I. is supported by the Foundation for Pediatric Research. D.K. is supported by the Simpson Querrey Center for Neurogenetics. Biospecimens used in the analyses presented in this article were obtained from the Northwestern University Movement Disorders Center (MDC) Biorepository. As such, the investigators within MDC Biorepository contributed to the design and implementation of the MDC Biorepository and/or provided data and collected biospecimens but did not participate in the analysis or writing of this report. MDC Biorepository investigators include Tanya Simuni, MD; Dimitri Krainc, MD, PhD; Opal Puneet, MD, PhD; Cindy Zadikoff, MD; Onur Melen, MD; Danny Bega, MD; Roneil G. Malkani, MD; Steven Lubbe, PhD; Niccolo E. Mencacci, MD, PhD; Christina Zelano, PhD; Joanna Blackburn, MD; Firas Wehbe, MD, PhD; Lisa Kinsley, MS, CGC; and Tina Ward, MS. A gift from the Malkin family generously supported the work of the MDC Biorepository. J.R.L. is supported by a grant from the National Human Genome Research Institute (NHGRI) and National Heart, Lung, and Blood Institute (NHLBI) to the Baylor-Hopkins Center for Mendelian Genomics (UM1 HG006542); a National Institute of Neurological Disorders and Stroke grant (R35NS105078); and an Muscular Dystrophy Association grant (512848). T.M. is supported by the Uehara Memorial Foundation. D.M. is supported by a Medical Genetics Research Fellowship Program through the National Institute of General Medical Sciences (NIGMS) at US NIH (T32 GM007526-42). D.P. is supported by a Clinical Research Training Scholarship in Neuromuscular Disease partnered by the American Brain Foundation and Muscle Study Group, and the International Rett Syndrome Foundation (grant #3701-1). J.E.P. was supported by NHGRI K08 HG008986. (Parkinson's Foundation, Foundation for Pediatric Research, Simpson Querrey Center for Neurogenetics, MDC Biorepository, National Human Genome Research Institute (NHGRI), National Heart, Lung, and Blood Institute (NHLBI)|UM1 HG006542, National Institute of Neurological Disorders and Stroke grant|R35NS105078, Muscular Dystrophy Association|512848, Uehara Memorial Foundation, Medical Genetics Research Fellowship Program through the National Institute of General Medical Sciences (NIGMS) at US NIH|T32 GM007526-42, Clinical Research Training Scholarship in Neuromuscular Disease, International Rett Syndrome Foundation|3701-1, NHGRI|K08 HG008986, National Human Genome Research Institute|K08HG008986)status: Publishe
Beyond ‘Needy’ Individuals: Conceptualizing Information Behavior
No full textUnderstanding information users and their behavior is a question of central importance for information
research and practice. The paper challenges several aspects of existing approaches to understanding information behavior, including: the focus on individual cognition at the expense of social and affective factors; the construction of information users as defined by their areas of ignorance and uncertainty, rather than their expertise; and the focus on purposive rather than non-purposive information behavior. It argues that only by addressing these weaknesses and developing new research strategies and theoretical frameworks which focus attention on the social processes and relationships which underpin users’ information behavior can we hope to develop a truly holistic understanding of the relationship between people and information. The paper uses the author’s study of information behavior researcher’s constructions of an author (Brenda Dervin) to illustrate how a social constructivist approach can both build on existing approaches to information behavior research and address some of their weaknesses. It argues that social constructivist approaches provide a theoretical lens through which information researchers can gain a clearer picture of information users not as ‘needy’ individuals to be ‘helped’, but as social beings, experts in their own life-worlds
Breakdown and recovery: female madness in Sylvia plath's the bell jar and Susana Kaysen's girl, interrupted
No full textDissertação (mestrado) - Universidade Federal de Santa Catarina, Centro de Comunicação e Expressão, Programa de Pós-graduação em Estudos Linguísticos e Literários, Florianópolis, 2013Embora Girl, Interrupted (1993), de Susanna Kaysen, tenha sido publicado trinta anos depois de The Bell Jar (1963), de Sylvia Plath, ambos os romances retratam a sociedade dos Estados Unidos pós-guerra, uma época de grandes mudanças no que diz respeito aos papéis profissional e intelectual desempenhados pelas mulheres. Deparando-se com o dilema entre a vida doméstica e uma carreira, as protagonistas desses dois romances sofreram profundas crises, as quais resultaram em um desequilíbrio emocional e uma busca por autoconhecimento e autorrealização. Baseando-se na crítica feminista (Phyllis Chesler, Betty Friedan, Barbara Hill Rigney, Sandra Gilbert, Susan Gubar, Gayle Greene, Linda Huf entre outros) e em princípios gerais da teoria psicoanalítica (especialmente R.D. Laing e Jung), esta pesquisa examina as forças conflitantes que levaram as protagonistas a ser consideradas psicologicamente instáveis, argumentando que a chamada loucura é um resultado de uma divisão entre anseios pessoais e pressões externas em uma época que as relações de gênero estavam sendo questionadas e transformadas.Abstract: Although thirty years separate the publications of Sylvia Plath?s The Bell Jar (1963) and Susanna Kaysen?s Girl, Interrupted (1993), both novels are set in post-war society in the United States, a time of great changes in the professional and intellectual roles for women. Caught in the dilemma between domesticity and a career, the protagonists of these two novels experience profound crises, which lead them to emotional imbalance and a search for self-knowledge and fulfillment. Based on feminist criticism (Phyllis Chesler, Betty Friedan, Barbara Hill Rigney, Sandra Gilbert, Susan Gubar, Gayle Greene, Linda Huf among others) and on general principles of psychoanalytic theory (especially R.D. Laing and Jung), this investigation examines the conflicting forces which cause them to be considered psychologically impaired, arguing that their so-called madness is a result of a division between inner drives and external pressures at a time when gender relations were being questioned and transforme
The Economic Value of Preserving Historic Interiors
No full textThis thesis examines the role of intact interiors in historic residential buildings in order to determine whether they add significant economic value in the real estate marketplace. The thesis first examines the existing body of knowledge on economics and preserving historic interiors as well as the changes that have taken place in American residential interiors over time. It next explores the concept of "intactness" in privately owned residential historic interiors and considers the various means available to encourage their protection. The thesis then presents a research method for determining whether historic homes that have their interior character-defining features intact are worth more on the market than those which do not retain their key interior elements. This research method is tested in Charleston, South Carolina, and is accompanied by results from interviews of Realtors throughout the United States specializing in the sale of historic properties. The research method includes an aggregate analysis of properties with "intact" versus "altered" interiors on a variety of measures representing value and selling time, as well as a paired-sales analysis which isolates the increment in value ascribed to intact interior features. The analysis revealed a 14% premium in the price of historic homes with intact interiors, and found that, on every measure, historic homes with interior features intact sold for more, sold more quickly, and sold for a higher percentage of their asking prices than did altered properties. The author concludes that a meaningful and positive economic value can be attributed to intact historic residential interiors
Approximate Personal Name-Matching Through Finite-State Graphs
No full textThis article shows how finite-state methods can be employed in a new and different task: the conflation of personal name variants in standard forms. In bibliographic databases and citation index systems, variant forms create problems of inaccuracy that affect information retrieval, the quality of information from databases, and the citation statistics used for the evaluation of scientists' work. A number of approximate string matching techniques have been developed to validate variant forms, based on similarity and equivalence relations. We classify the personal name variants as nonvalid and valid forms. In establishing an equivalence relation between valid variants and the standard form of its equivalence class, we defend the application of finite-state transducers. The process of variant identification requires the elaboration of: (a) binary matrices and (b) finite-state graphs. This procedure was tested on samples of author names from bibliographic records, selected from the Library and Information Science Abstracts (LISA) and Science Citation Index Expanded (SCI-E) databases. The evaluation involved calculating the measures of precision and recall, based on completeness and accuracy. The results demonstrate the usefulness of this approach, although it should be complemented with methods based on similarity relations for the recognition of spelling variants and misspellings
Resonance and Readability: An Examination of Personal Style and Voice at Goucher College
No full textFrom the Faculty Nominator, Arnold Sanders: This paper originated in Lisa Charron's English 221 bibliographic annotation on the Ireland-Pennebaker article on "Language Style Matching" which stimulated a great class discussion and drew Megan Simon's interest from the "voice" side of the debate about writing style. Both of them collaborated on the project, which balanced research in scholarly secondary sources and original research using Goucher professors as subjects. "Language style matching" appears to be a uncontrollable, but powerful psychological effect, causing speakers to mimic the most minute linguistic behaviors of their audiences within a short period of time. From afar, it makes a certain amount of "common sense." How else would we adapt to regional accents when we move, or pick up new style formats when shopping articles to journals whose editors disagree? In either case, if we stopped to think about all the trivial differences the target audience was using to judge our correctness, we would get nothing done. Composition researchers have long believed that one way to understand college students' struggles with academic prose was to see them as trying to join a new discourse community before they even fully knew the rules by which it operated, and as moving among many different discourse communities as they walked from department to department, division to division, trying to write as if they were native to each one. The deck was stacked against them by the sheer number and variety of stylistic quirks demanded by "standard academic prose" whatever that really is, and by the real variations in departmental and divisional expectations of prose style. Charron and Simon's secondary source research laid out a wonderfully clear view of current theories on writing style's origins and the factors controlling our ability to change it consciously. Their original research among Goucher faculty helped Writing Center tutors to understand how Goucher teachers talk about style among ourselves, and what expectations we have about the style of student writing. Clarity, more than an engaging voice, appears to be most instructors' first requirement. Although that might seem obvious, it flies in the face of many theoreticians' belief that a good style's most important characteristics were those which personally and socially engaged its audiences. Apparently, clarity is hard enough for now.We began this paper trying to pin down that elusive quality of writing--personal style and voice. We soon realized there is no clear consensus on how to evaluate good or bad, improve it , or even define it. We identified six very different theories on how to approach voice, plus one that covers the middle ground. Then we tackled the big question: What do Goucher professors think? Turns out, it's all about achieving the right mix of formal clarity and conversational interest.
We also thought that personal style and voice would be a particularly interesting topic for a co-authored paper. We divided up the writing but then tried to moderate our styles so that the paper would flow continuously. Can you tell at what points the author switches?Arnold Sandershttp://blogs.goucher.edu/verge/8-2
A comparison of Catheter-Related Infection in oncology patients with Peripherally Inserted Central Catheter versus Totally Implantable Centrall Acess Device
No full textA comparison of Catheter-Related Infection in oncology patients with Peripherally Inserted Central Catheter versus Totally Implantable Central Access Device.
Author: Lisa Bjerling. Supervisor: Maria Werner, MD, PhD.
Abstract
Degree project, Programme in Medicine. A comparison of Catheter-Related Infection in oncology patients with Peripherally Inserted Central Catheter versus Totally Implantable Central Access Device. Lisa Bjerling, 2017, Department of Infectious Diseases and Infection Control, Södra Älvsborg Hospital, Borås, Sweden. University of Gothenburg, Gothenburg, Sweden. Supervisor: Maria Werner, MD, PhD.
Introduction: Catheter-Related Infection (CRI) is an important factor for morbidity in patients with a Central Venous Access Device (CVAD). The CRI-incidence differ between CVADs. In oncological care, CVADs used are for example Totally Implantable Venous Access Device (TIVAD) and Peripherally Inserted Central Catheter (PICC).
Aim: To find whether PICC or TIVAD gives the lowest incidence of CRI in patients with solid tumors.
Method: Records from 556 patients with CVADs (328 PICC and 228 TIVAD) inserted between 2015-2016 at Södra Älvsborg Hospital (SÄS) in Sweden were reviewed. The comparison of the CRI-incidence was made in two groups: Confirmed CRI and Total CRI (Uncertain CRI-episodes included). Data was analyzed with Kaplan-Meier survival function and Cox regression.
Result: 320 patients with 356 CVAD episodes (165 TIVAD and 191 PICC) were analyzed. 200 patients were excluded (mainly because of that the CVAD was not inserted at SÄS or age <18 years). In the Total TIVAD CRI-group, 46 CRIs was found (1.04 CRI/1000 catheter-days)
and 26 CRIs was found (1.77 CRI/1000 catheter-days) in the Total PICC CRI-group. In the Confirmed TIVAD CRI-group, 24 CRIs was found (0.5 CRI/1000 catheter-days) and 2 CRIs (0.13 CRI/1000 catheter-days) in the PICC group. A significantly lower risk of CRI in patients with PICC was found in the Confirmed CRI-group (Hazard Ratio=0.093, 95% Confidence Interval=0.01-0.869, p=0.037) but not in the Total CRI-group (Hazard Ratio=1.029, 95% Confidence Interval=0.438-2.157, p=0.945).
Conclusion: In patients with solid tumors there was no significant difference in CRI-incidence between PICC and TIVAD. Patients with PICC had a significantly lower CRI-incidence in the Confirmed CRI-group, indicating that PICC might be a safer alternative. The CRI-incidence in both groups were equivalent with earlier studies. Further prospective studies are needed
LISA SERGIO: HOW MUSSOLINI'S "GOLDEN VOICE" OF PROPAGANDA CREATED AN AMERICAN MASS COMMUNICATION CAREER
No full textIn 1937 Lisa Sergio, "The Golden Voice" of fascist broadcasting from Rome, fled Italy for the United States. Though her mother was American, Sergio was classified as an enemy alien once the United States entered World War II. Yet Sergio became a U.S. citizen in 1944 and built a successful career in radio, working first at NBC and then WQXR in New York City in the days when women's voices were not thought to be appropriate for news or "serious" programming. When she was blacklisted as a communist in the early 1950s, Sergio compensated for the loss of radio employment by becoming principally an author and lecturer in Washington, D.C., until her death in 1989. This dissertation, based on her personal papers, is the first study of Sergio's American mass communication career. It points out the personal, political and social obstacles she faced as a woman in her 52-year career as a commentator on varied aspects of world affairs, religion and feminism. This study includes an examination of the FBI investigations of Sergio and the anti-communist campaigns conducted against her. It concludes that Sergio's success as a public communicator was predicated on both her unusual talents and her ability to transform her public image to reflect ideal American values of womanhood in shifting political climates
Risk factors associated with bloodstream infections in end-stage renal disease patients: a population-based study
No full textBackground: Bloodstream infections (BSI) commonly complicate end-stage renal disease (ESRD) and are the second most common cause of death in these patients. The objective of this study was to define risk factors for development of BSI and its outcome among ESRD patients.
Methods: A retrospective, population-based, matched cohort design was utilized. All adult (18 or older) residents of the western interior of British Columbia with ESRD who had a first BSI between April 2010 and March 2017 were included. Subject cases were then matched 1:1 with an ESRD patient from the regional registry who did not have a BSI.
Results: During the study period a total of 53 cases of incident BSI were identified among patients with ESRD. The median age was 70.7 (interquartile range, 61.9–79.6) years and 28 (53%) were male. The most common organism isolated was Staphylococcus aureus (17 cases; 32%). Compared to controls, case patients were significantly (p < .05) more likely to have higher Charlson comorbidity scores (mean difference (MD): 1.4; 95% CI (0.5, 2.2)), and have lower serum albumin (MD: −3.3; 95% CI (−5.5, −1.2)). Diabetes was not significant; however, cases were twice as likely to be diabetic (OR: 2.0; 95% CI (0.9, 4.8)). Case fatality rates for 30- and 90-days were 8/53 (15%) and 13/53 (25%) respectively, whereas no control patients died (p < .05).
Conclusions: ESRD patients with higher co-morbid illness, and lower serum albumin are at an increased risk for development of a BSI. Development of BSI among ESRD patients is associated with higher fatality rates.Peer reviewedFinal article publishedbacteremiafatalityrisk factorsbloodstream infectionend-stage renal diseas
Casanovas are liars : behavioral syndromes, sperm competition risk, and the evolution of deceptive male mating behavior in live-bearing fishes [version 2; referees: 2 approved, 1 approved with reservations]
No full textMale reproductive biology can by characterized through competition over mates as well as mate choice. Multiple mating and male mate choice copying, especially in internally fertilizing species, set the stage for increased sperm competition, i.e., sperm of two or more males can compete for fertilization of the female’s ova. In the internally fertilizing fish Poecilia mexicana, males respond to the presence of rivals with reduced expression of mating preferences (audience effect), thereby lowering the risk of by-standing rivals copying their mate choice. Also, males interact initially more with a non-preferred female when observed by a rival, which has been interpreted in previous studies as a strategy to mislead rivals, again reducing sperm competition risk (SCR). Nevertheless, species might differ consistently in their expression of aggressive and reproductive behaviors, possibly due to varying levels of SCR. In the current study, we present a unique data set comprising ten poeciliid species (in two cases including multiple populations) and ask whether species can be characterized through consistent differences in the expression of aggression, sexual activity and changes in mate choice under increased SCR. We found consistent species-specific differences in aggressive behavior, sexual activity as well as in the level of misleading behavior, while decreased preference expression under increased SCR was a general feature of all but one species examined. Furthermore, mean sexual activity correlated positively with the occurrence of potentially misleading behavior. An alternative explanation for audience effects would be that males attempt to avoid aggressive encounters, which would predict stronger audience effects in more aggressive species. We demonstrate a positive correlation between mean aggressiveness and sexual activity (suggesting a hormonal link as a mechanistic explanation), but did not detect a correlation between aggressiveness and audience effects. Suites of correlated behavioral tendencies are termed behavioral syndromes, and our present study provides correlational evidence for the evolutionary significance of SCR in shaping a behavioral syndrome at the species level across poeciliid taxa
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