The effects of an insertion in the 5 ' UTR of the AMCase on gene expression and pulmonary functions

Cataloged from PDF version of article.Background: Studies regarding the physiological role of acidic mammalian chitinase (AMCase) and the effects of its genetic variants on asthma have produced conflicting results. Objectives: We aimed to determine the genetic variants in the AMCase gene that could regulate the gene expression and thus influence disease severity. Methods: Genetic variants of the AMCase gene were determined by sequencing of asthmatics and healthy controls in up to -1 kb in the promoter region and exon 1 and 2. In an association study, a population of asthmatic (n = 504) and healthy Turkish children (n = 188) were genotyped for the observed SNPs. A replication study was performed in a North American adult population of patients with mild (n = 317) and severe (n = 145) asthma. The functional properties of the insertion were determined by promoter reporter assay, electromobility shift assay and transcription factor ELISA experiments. Results: Of the identified SNPs, only a ten base pair insertion (CAATCTAGGC) in the 5'UTR region of exon 2 was significantly associated with lower FEV(1) (beta = -14.63 SE = 6.241, P = 0.019) in Turkish children with asthma. However, in the adult population, the same insertion showed a trend toward higher FEV(1). The insertion was shown to have enhancer activity and the mutant probe possessing the insertion had higher binding affinity for the nuclear extracts. Conclusion: Our study shows that a ten base pair insertion in the 5'UTR region of AMCase gene may modify gene expression and thus may affect the severity of asthma. However, its effects appear to be different in different populations. (C) 2011 Elsevier Ltd. All rights reserved

Applications of Temperley-Lieb algebras to Lorentz lattice gases

Motived by the study of motion in a random environment we introduce and investigate a variant of the Temperley-Lieb algebra. This algebra is very rich, providing us three classes of solutions of the Yang-Baxter equation. This allows us to establish a theoretical framework to study the diffusive behaviour of a Lorentz Lattice gas. Exact results for the geometrical scaling behaviour of closed paths are also presented.Comment: 10 pages, latex file, one figure(by request

Large occipital nerve (Arnold’s nerve) schwannoma

A 37 year-old man who had a ten years history of remitting and intermittently severe neck pain with a suboccipital mass is presented. On initial neurological examination there was no abnormal finding except little mass in the posterior neck. Following physical examination radiological evaluation was requested. In sagittal pre (A) and postcontrast (B) T1W images the lesion in between cervical 2 and 3 spinal process (arrow). The lesion was well defined, encapsulated, heterogeneously enhanced in 2.5 x 2 cm size. There was no bony destruction but remodeling. On axial image the configuration and the location in the semispinalis capitis muscle was easily identified easily (C). The patient underwent operation and final pathologic and radiologic diagnosis was schwannoma with Antoni A cells which was originated from the greater occipital nerve

Gravitational Instantons from Minimal Surfaces

Physical properties of gravitational instantons which are derivable from minimal surfaces in 3-dimensional Euclidean space are examined using the Newman-Penrose formalism for Euclidean signature. The gravitational instanton that corresponds to the helicoid minimal surface is investigated in detail. This is a metric of Bianchi Type $VII_0$, or E(2) which admits a hidden symmetry due to the existence of a quadratic Killing tensor. It leads to a complete separation of variables in the Hamilton-Jacobi equation for geodesics, as well as in Laplace's equation for a massless scalar field. The scalar Green function can be obtained in closed form which enables us to calculate the vacuum fluctuations of a massless scalar field in the background of this instanton.Comment: One figure available by fax upon request. Abstract missing in original submission. Submitted to Classical and Quantum Gravit

Two-dimensional rule language for querying sensor log data: a framework and use cases

Motivated by two industrial use cases that involve detecting events of interest in (asynchronous) time series from sensors in manufacturing rigs and gas turbines, we design an expressive rule language DslD equipped with interval aggregate functions (such as weighted average over a time interval), Allen’s interval relations and various metric constructs. We demonstrate how to model events in the uses cases in terms of DslD programs. We show that answering DslD queries in our use cases can be reduced to evaluating SQL queries. Our experiments with the use cases, carried out on the Apache Spark system, show that such SQL queries scale well on large real-world datasets

Detection of human MCP-4/CCL13 isoforms by SELDI immunoaffinity capture

Monocyte Chemoattractant Proteins 4 (MCP-4/CCL13) is a member of a distinct, structurally-related subclass of CC chemokines mainly involved in recruitment of eosinphils to inflammatory sites. Recent evidence demonstrates that serum level of this protein strongly increases following high dose IL-2 immunotherapy. The physiological form of human MCP-4/CCL13 has yet to be purified. Therefore, the primary structure of the biologically relevant (mature) form has not been established. By using SELDI immunoaffinity capture technology we describe two mature isoforms both present in serum before and after high-dose IL-2 immunotherapy

Impact of Rhinitis on Work Productivity : A Systematic Review

BACKGROUND: Allergic rhinitis (AR) is increasingly acknowledged as having a substantial socioeconomic impact associated with impaired work productivity, although available information remains fragmented. OBJECTIVE: This systematic review summarizes recently available information to provide a quantitative estimate of the burden of AR on work productivity including lost work time (ie, absenteeism) and reduced performance while working (ie, presenteeism). METHODS: A Medline search retrieved original studies from 2005 to 2015 pertaining to the impact of AR on work productivity. A pooled analysis of results was carried out with studies reporting data collected through the validated Work Productivity and Activity Impairment (WPAI) questionnaire. RESULTS: The search identified 19 observational surveys and 9 interventional studies. Six studies reported economic evaluations. Pooled analysis of WPAI-based studies found an estimated 3.6% (95% confidence interval [CI], 2.4; 4.8%) missed work time and 35.9% (95% CI, 29.7; 42.1%) had impairment in at-work performance due to AR. Economic evaluations indicated that indirect costs associated with lost work productivity are the principal contributor to the total AR costs and result mainly from impaired presenteeism. The severity of AR symptoms was the most consistent disease-related factor associated with a greater impact of AR on work productivity, although ocular symptoms and sleep disturbances may independently affect work productivity. Overall, the pharmacologic treatment of AR showed a beneficial effect on work productivity. CONCLUSIONS: This systematic review provides summary estimates of the magnitude of work productivity impairment due to AR and identifies its main determinant factors. This information may help guide both clinicians and health policy makers. (C) 2017 American Academy of Allergy, Asthma & ImmunologyPeer reviewe

Delineation of phenotypes and genotypes related to cohesin structural protein RAD21

RAD21 encodes a key component of the cohesin complex, and variants in RAD21 have been associated with Cornelia de Lange Syndrome (CdLS). Limited information on phenotypes attributable to RAD21 variants and genotype–phenotype relationships is currently published. We gathered a series of 49 individuals from 33 families with RAD21 alterations [24 different intragenic sequence variants (2 recurrent), 7 unique microdeletions], including 24 hitherto unpublished cases. We evaluated consequences of 12 intragenic variants by protein modelling and molecular dynamic studies. Full clinical information was available for 29 individuals. Their phenotype is an attenuated CdLS phenotype compared to that caused by variants in NIPBL or SMC1A for facial morphology, limb anomalies, and especially for cognition and behavior. In the 20 individuals with limited clinical information, additional phenotypes include Mungan syndrome (in patients with biallelic variants) and holoprosencephaly, with or without CdLS characteristics. We describe several additional cases with phenotypes including sclerocornea, in which involvement of the RAD21 variant is uncertain. Variants were frequently familial, and genotype–phenotype analyses demonstrated striking interfamilial and intrafamilial variability. Careful phenotyping is essential in interpreting consequences of RAD21 variants, and protein modeling and dynamics can be helpful in determining pathogenicity. The current study should be helpful when counseling families with a RAD21 variation.Spanish Ministry of Science, Innovation and Universities/State Research Agency RTC-2017-6494-1 and RTI2018-094434-B-I00 (MCIU/AEI/FEDER, UE) as well as funds from the European JPIAMR-VRI network “CONNECT” to PG-