213 research outputs found
The epidemiology and etiology of adhesive capsulitis in the U.S. Medicare population
Abstract Background Adhesive capsulitis (AC) of the shoulder, also known as frozen shoulder, causes substantial pain and disability. In cases of secondary AC, the inflammation and fibrosis of the synovial joint can be triggered by trauma or surgery to the joint followed by extended immobility. However, for primary AC the inciting trigger is unknown. The burden of the disorder among the elderly is also unknown leading to this age group being left out of therapeutic research studies, potentially receiving delayed diagnoses, and unknown financial costs to the Medicare system. The purpose of this analysis was to describe the epidemiology of AC in individuals over the age of 65, an age group little studied for this disorder. The second purpose was to investigate whether specific medications, co-morbidities, infections, and traumas are risk factors or triggers for primary AC in this population. Methods We used Medicare claims data from 2010–2012 to investigate the prevalence of AC and assess comorbid risk factors and seasonality. Selected medications, distal trauma, and classes of infections as potential inflammatory triggers for primary AC were investigated using a case–control study design with patients with rotator cuff tears as the comparison group. Medications were identified from National Drug codes and translated to World Health Organization ATC codes for analysis. Health conditions were identified using ICD9-CM codes. Results We found a one-year prevalence rate of AC of approximately 0.35% among adults aged 65 years and older which translates to approximately 142,000 older adults in the United States having frozen shoulder syndrome. Diabetes and Parkinson’s disease were significantly associated with the diagnosis of AC in the elderly. Cases were somewhat more common from August through December, although a clear seasonal trend was not observed. Medications, traumas, and infections were similar for cases and controls. Conclusions This investigation identified the burden of AC in the US elderly population and applied case–control methodology to identify triggers for its onset in this population. Efforts to reduce chronic health conditions such as diabetes may reduce seemingly unrelated conditions such as AC. The inciting trigger for this idiopathic condition remains elusive
Effect of population stratification on the identification of significant single-nucleotide polymorphisms in genome-wide association studies
The North American Rheumatoid Arthritis Consortium case-control study collected case participants across the United States and control participants from New York. More than 500,000 single-nucleotide polymorphisms (SNPs) were genotyped in the sample of 2000 cases and controls. Careful adjustment for the confounding effect of population stratification must be conducted when analyzing these data; the variance inflation factor (VIF) without adjustment is 1.44. In the primary analyses of these data, a clustering algorithm in the program PLINK was used to reduce the VIF to 1.14, after which genomic control was used to control residual confounding. Here we use stratification scores to achieve a unified and coherent control for confounding. We used the first 10 principal components, calculated genome-wide using a set of 81,500 loci that had been selected to have low pair-wise linkage disequilibrium, as risk factors in a logistic model to calculate the stratification score. We then divided the data into five strata based on quantiles of the stratification score. The VIF of these stratified data is 1.04, indicating substantial control of stratification. However, after control for stratification, we find that there are no significant loci associated with rheumatoid arthritis outside of the HLA region. In particular, we find no evidence for association of TRAF1-C5 with rheumatoid arthritis
The evolution of power and standard Wikidata editors: comparing editing behavior over time to predict lifespan and volume of edits
Knowledge bases are becoming a key asset leveraged for various types of applications on the Web, from search engines presenting ‘entity cards’ as the result of a query, to the use of structured data of knowledge bases to empower virtual personal assistants. Wikidata is an open general-interest knowledge base that is collaboratively developed and maintained by a community of thousands of volunteers. One of the major challenges faced in such a crowdsourcing project is to attain a high level of editor engagement. In order to intervene and encourage editors to be more committed to editing Wikidata, it is important to be able to predict at an early stage, whether an editor will or not become an engaged editor. In this paper, we investigate this problem and study the evolution that editors with different levels of engagement exhibit in their editing behaviour over time. We measure an editor’s engagement in terms of (i) the volume of edits provided by the editor and (ii) their lifespan (i.e. the length of time for which an editor is present at Wikidata). The large-scale longitudinal data analysis that we perform covers Wikidata edits over almost 4 years. We monitor evolution in a session-by-session- and monthly-basis, observing the way the participation, the volume and the diversity of edits done by Wikidata editors change. Using the findings in our exploratory analysis, we define and implement prediction models that use the multiple evolution indicators
State of the Science for Kidney Disorders in Phelan-McDermid Syndrome: UPK3A, FBLN1, WNT7B, and CELSR1 as Candidate Genes
Phelan-McDermid syndrome (PMS) is a neurodevelopmental disorder caused by chromosomal rearrangements affecting the 22q13.3 region or by SHANK3 pathogenic variants. The scientific literature suggests that up to 40% of individuals with PMS have kidney disorders, yet little research has been conducted on the renal system to assess candidate genes attributed to these disorders. Therefore, we first conducted a systematic review of the literature to identify kidney disorders in PMS and then pooled the data to create a cohort of individuals to identify candidate genes for renal disorders in PMS. We found 7 types of renal disorders reported: renal cysts, renal hypoplasia or agenesis, hydronephrosis, vesicoureteral reflux, kidney dysplasia, horseshoe kidneys, and pyelectasis. Association analysis from the pooled data from 152 individuals with PMS across 22 articles identified three genomic regions spanning chromosomal bands 22q13.31, 22q13.32, and 22q13.33, significantly associated with kidney disorders. We propose UPK3A, FBLN1, WNT7B, and CELSR1, located from 4.5 Mb to 5.5 Mb from the telomere, as candidate genes. Our findings support the hypothesis that genes included in this region may play a role in the pathogenesis of kidney disorders in PMS
Genetic Findings as the Potential Basis of Personalized Pharmacotherapy in Phelan-McDermid Syndrome
Phelan-McDermid syndrome (PMS) is a genetic disorder often characterized by autism or autistic-like behavior. Most cases are associated with haploinsufficiency of the SHANK3 gene resulting from deletion of the gene at 22q13.3 or from a pathogenic variant in the gene. Treatment of PMS often targets SHANK3, yet deletion size varies from 9 Mb, potentially encompassing dozens of genes and disrupting regulatory elements altering gene expression, inferring the potential for multiple therapeutic targets. Repurposed drugs have been used in clinical trials investigating therapies for PMS: insulin-like growth factor 1 (IGF-1) for its effect on social and aberrant behaviors, intranasal insulin for improvements in cognitive and social ability, and lithium for reversing regression and stabilizing behavior. The pharmacogenomics of PMS is complicated by the CYP2D6 enzyme which metabolizes antidepressants and antipsychotics often used for treatment. The gene coding for CYP2D6 maps to 22q13.2 and is lost in individuals with deletions larger than 8 Mb. Because PMS has diverse neurological and medical symptoms, many concurrent medications may be prescribed, increasing the risk for adverse drug reactions. At present, there is no single best treatment for PMS. Approaches to therapy are necessarily complex and must target variable behavioral and physical symptoms of PMS.
Fauna parasitoide de Phyllonorycter spp. en plantaciones de manzano de Lleida
Se ha estudiado en 1992, 1993 y 1996 la fauna parasitaria de Phyllonorycter corylifoliella (Hübner) y de Phyllonorycter mespilella (Hübner) existente en 4 parcelas de manzano situadas en la zona frutícola de Lleida. La incidencia de estas especies fue baja en todas las parcelas estudiadas. La tasa de parasitismo alcanzó valores del 35% cuando la población larvaria de las minadoras estuvo compuesta fundamentalmente por larvas del cuarto y del quinto estadios. En general, se observó una marcada preferencia por las larvas histófagas y una proporción de sexos siempre favorable a los machos. Básicamente, se encontraron las mismas especies en los distintos años y parcelas, aunque su abundancia relativa fue diferente. Las especies más abundantes y frecuentes fueron Sympiesis gordius Walker, Sympiesis sericeicornis Nees, Sympiesis acalle Walker (Eulophidae) y Pholetesor bicolor (Nees) (Braconidae).The parasitic fauna of Phyllonorycter corylifoliella (Hiibner) and Phyllonorycter
mespilella (Hiibner) (Lepidoptera: Gracillariidae) was studied at 4 apple orchards at the Lleida fruit-growing area in 1992, 1993 and 1996. The populations of Phyllonorycter were small in all the cases. The rate of parasitism reached 35% when host larval populations were composed mainly by 4th and 5th instar. The sex ratio of the parasitoids was always favourable to the males. In general, the same parasitoid species were found in all the orchards and years, but their relative abundance was different. The most frequently found species were Sympiesis gordius Walker, Sympiesis sericeicornis Nees, Sympiesis acalle Walker (Eulophidae) and Pholetesor bicolor (Nees) (Braconidae)
Ferromagnetism without flat bands in thin armchair nanoribbons
Describing by a Hubbard type of model a thin armchair graphene ribbon in the
armchair hexagon chain limit, one shows in exact terms, that even if the system
does not have flat bands at all, at low concentration a mesoscopic sample can
have ferromagnetic ground state, being metallic in the same time. The mechanism
is connected to a common effect of correlations and confinement.Comment: 37 pages, 12 figures, in press at Eur. Phys. Jour.
A method for defining human-machine micro-task workflows for gathering legal information
Series : Lecture notes in computer science, ISSN 0302-9743, vol. 8929With the growing popularity of micro-task crowdsourcing platforms, new workflow-based micro-task crowdsourcing approaches are starting to emerge. Such workflows occur in legal, political and conflict resolution do-mains as well, presenting new challenges, namely in micro-task specification and human-machine interaction, which result mostly from the flow of unstruc-tured data. Domain ontologies provide the structure and semantics required to describe the data flowing throughout the workflow in a way understandable to both humans and machines. This paper presents a method for the construction of micro-task workflows from legal domain ontologies. The method is currently being employed in the context of the UMCourt project in order to formulate in-formation retrieval and conflict resolution workflows.This work is part-funded by FEDER Funds, by the ERDF (Eu-ropean Regional Development Fund) through the COMPETE Programme (operation-al programme for competitiveness) and by National Funds through the FCT (Portu-guese Foundation for Science and Technology) within the project FCOMP-01-0124-FEDER-028980 (PTDC/EEI-SII/1386/2012). The work of Nuno Luz is supported by the doctoral grant SFRH/BD/70302/2010
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