Community on the watch: making sense of is research through the lens of espoused theories of is

Community on the Watch: Making Sense of IS Research through the Lens of Espoused Theories of IS In the IS field there has been an ongoing tradition to study the publication output of the community in order to evaluate the current and potential situation of IS research. In this work, we follow a different strategy and study what IS research claims to be. We look at those so-called 'espoused theories of IS' as found in the General Editorials Statements (GES) of IS journals. Based on the AISWorld journal ranking, we collected GES for 30 leading IS journals for the years 1997 and 2007. We applied thematic, lexicometric, and factor analyses to the datasets of the 1997 and the 2007 GES. Our results show that the representation of IS research in the GES has changed little over the last decade.: Espoused Theory, Information Systems (IS), Research, Expectations, General Editorial Statement (GES), IS Journals, Thematic Analysis, Lexicometric Analysis.

Ocular lesions in hereditary hemorrhagic telangiectasia: genetics and clinical characteristics

Background: The aim of our study is to study the association between eye lesions in Hereditary Hemorrhagic Telangiectasia (HHT) and other signs of the disease, as well as to characterize its genetics. Methods: A cross-sectional study was conducted of a cohort of 206 patients studied in the HHT Unit of Hospital de Sierrallana, a reference centre for Spanish patients with HHT. Odds ratios for several symptoms or characteristics of HHT and ocular lesions were estimated using logistic regression adjusting for age and sex. Results: The ocular involvement was associated with being a carrier of a mutation for the ENG gene, that is, suffering from a type 1 HHT involvement (OR = 2.09; 95% CI [1.17–3.72]). p = 0.012). In contrast, patients with ocular lesions have less frequently mutated ACVRL1/ALK1 gene (OR = 0.52; 95% CI [0.30–3.88], p = 0.022). Conclusions: In conclusion, half of the patients with HHT in our study have ocular involvement. These eye lesions are associated with mutations in the ENG gene and ACVRL1/ALK1 gene. Thus, the ENG gene increases the risk of ocular lesions, while being a carrier of the mutated ACVRL1/ALK1 gene decreases said risk

Gestión de evidencia digital en dispositivos móviles

Este artículo es el resultado de la etapa exploratoria de la línea de investigación “Informática Forense” inserta en el proyecto “Computación Móvil: desarrollo de aplicaciones y análisis forense”, que propone una continuación del trabajo en el ámbito de la computación móvil iniciado en el año 2012. La línea atiende requerimientos relacionados con el proceso de obtención de evidencias digitales en dispositivos móviles, surgidos desde el ámbito judicial ante la implementación del Nuevo Sistema Procesal Penal en la Provincia de Santiago del Estero, planteando como desafío la definición de un protocolo para la gestión de evidencias digitales forenses obtenidas de dispositivos móviles. Este protocolo permitirá contar con un proceso de adquisición legalmente aceptable, apoyado en métodos científicos de recolección, análisis, validación y conservación de evidencias digitales obtenidas de dispositivos móviles. Se tomarán como referencia las fases definidas en el Proceso Unificado de Recuperación de la Información PURI, que brinda una visión detallada y abarcadora de la labor de adquisición de evidencias digitales. Para garantizar el cumplimiento de las buenas prácticas tendientes a asegurar la calidad de los procesos aplicados y sus resultados, se considerará la familia de normas ISO/IEC 27000.Sociedad Argentina de Informática e Investigación Operativa (SADIO

Indian genetic disease database

Indians, representing about one-sixth of the world population, consist of several thousands of endogamous groups with strong potential for excess of recessive diseases. However, no database is available on Indian population with comprehensive information on the diseases common in the country. To address this issue, we present Indian Genetic Disease Database (IGDD) release 1.0 (http://www.igdd.iicb.res.in)—an integrated and curated repository of growing number of mutation data on common genetic diseases afflicting the Indian populations. Currently the database covers 52 diseases with information on 5760 individuals carrying the mutant alleles of causal genes. Information on locus heterogeneity, type of mutation, clinical and biochemical data, geographical location and common mutations are furnished based on published literature. The database is currently designed to work best with Internet Explorer 8 (optimal resolution 1440 × 900) and it can be searched based on disease of interest, causal gene, type of mutation and geographical location of the patients or carriers. Provisions have been made for deposition of new data and logistics for regular updation of the database. The IGDD web portal, planned to be made freely available, contains user-friendly interfaces and is expected to be highly useful to the geneticists, clinicians, biologists and patient support groups of various genetic diseases

Gestión de evidencia digital en dispositivos móviles

Este artículo es el resultado de la etapa exploratoria de la línea de investigación “Informática Forense” inserta en el proyecto “Computación Móvil: desarrollo de aplicaciones y análisis forense”, que propone una continuación del trabajo en el ámbito de la computación móvil iniciado en el año 2012. La línea atiende requerimientos relacionados con el proceso de obtención de evidencias digitales en dispositivos móviles, surgidos desde el ámbito judicial ante la implementación del Nuevo Sistema Procesal Penal en la Provincia de Santiago del Estero, planteando como desafío la definición de un protocolo para la gestión de evidencias digitales forenses obtenidas de dispositivos móviles. Este protocolo permitirá contar con un proceso de adquisición legalmente aceptable, apoyado en métodos científicos de recolección, análisis, validación y conservación de evidencias digitales obtenidas de dispositivos móviles. Se tomarán como referencia las fases definidas en el Proceso Unificado de Recuperación de la Información PURI, que brinda una visión detallada y abarcadora de la labor de adquisición de evidencias digitales. Para garantizar el cumplimiento de las buenas prácticas tendientes a asegurar la calidad de los procesos aplicados y sus resultados, se considerará la familia de normas ISO/IEC 27000.Sociedad Argentina de Informática e Investigación Operativa (SADIO

SERUM CONCENTRATIONS OF TNF-a AND ITS SOLUBLE RECEPTORS DURING PSYCHOTHERAPY IN GERMAN SOLDIERS SUFFERING FROM COMBAT-RELATED PTSD

Background: Changes in serum concentrations of tumor necrosis factor

Impact of Serum Cytokine Levels on EEG-Measured Arousal Regulation in Patients with Major Depressive Disorder and Healthy Controls

Background: In major depressive disorder (MDD), findings include hyperstable regulation of brain arousal measured by electroencephalography (EEG) vigilance analysis and alterations in serum levels of cytokines. It is also known that cytokines affect sleep-wake regulation. This study investigated the relationship between cytokines and EEG vigilance in participants with MDD and nondepressed controls, and the influence of cytokines on differences in vigilance between the two groups. Methods: In 60 patients with MDD and 129 controls, 15-min resting-state EEG recordings were performed and vigilance was automatically assessed with the VIGALL 2.0 (Vigilance Algorithm Leipzig). Serum levels of the wakefulness-promoting cytokines interleukin (IL)-4, IL-10, IL-13 and somnogenic cytokines tumor necrosis factor-alpha, interferon-gamma and IL-2 were measured prior to the EEG. Results: Summed wakefulness-promoting cytokines, but not somnogenic cytokines, were significantly associated with the time course of EEG vigilance in the MDD group only. In both groups, IL-13 was significantly associated with the course of EEG vigilance. In MDD compared to controls, a hyperstable EEG vigilance regulation was found, significant for group and group x time course interaction. After controlling for wakefulness-promoting cytokines, differences in vigilance regulation between groups remained significant. Conclusions: The present study demonstrated a relationship between wakefulness-promoting cytokines and objectively measured EEG vigilance as an indicator for brain arousal. Altered brain arousal regulation in MDD gives support for future evaluation of vigilance measures as a biomarker in MDD. Since interactions between cytokines and EEG vigilance only moderately differed between the groups and cytokine levels could not explain the group differences in EEG vigilance regulation, cytokines and brain arousal regulation are likely to be associated with MDD in independent ways. (C) 2016 S. Karger AG, Base

Functional Characterization of Two Variants at the Intron 6-Exon 7 Boundary of the KCNQ2 Potassium Channel Gene Causing Distinct Epileptic Phenotypes

Pathogenic variants in KCNQ2 encoding for Kv7.2 potassium channel subunits have been found in patients affected by widely diverging epileptic phenotypes, ranging from Self-Limiting Familial Neonatal Epilepsy (SLFNE) to severe Developmental and Epileptic Encephalopathy (DEE). Thus, understanding the pathogenic molecular mechanisms of KCNQ2 variants and their correlation with clinical phenotypes has a relevant impact on the clinical management of these patients. In the present study, the genetic, biochemical, and functional effects prompted by two variants, each found in a non-familial SLNE or a DEE patient but both affecting nucleotides at the KCNQ2 intron 6-exon 7 boundary, have been investigated to test whether and how they affected the splicing process and to clarify whether such mechanism might play a pathogenetic role in these patients. Analysis of KCNQ2 mRNA splicing in patient-derived lymphoblasts revealed that the SLNE-causing intronic variant (c.928-1G > C) impeded the use of the natural splice site, but lead to a 10-aa Kv7.2 in frame deletion (Kv7.2 p.G310Δ10); by contrast, the DEE-causing exonic variant (c.928G > A) only had subtle effects on the splicing process at this site, thus leading to the synthesis of a full-length subunit carrying the G310S missense variant (Kv7.2 p.G310S). Patch-clamp recordings in transiently-transfected CHO cells and primary neurons revealed that both variants fully impeded Kv7.2 channel function, and exerted strong dominant-negative effects when co-expressed with Kv7.2 and/or Kv7.3 subunits. Notably, Kv7.2 p.G310S, but not Kv7.2 p.G310Δ10, currents were recovered upon overexpression of the PIP2-synthesizing enzyme PIP5K, and/or CaM; moreover, currents from heteromeric Kv7.2/Kv7.3 channels incorporating either Kv7.2 mutant subunits were differentially regulated by changes in PIP2 availability, with Kv7.2/Kv7.2 G310S/Kv7.3 currents showing a greater sensitivity to PIP2 depletion when compared to those from Kv7.2/Kv7.2 G310Δ10/Kv7.3 channels. Altogether, these results suggest that the two variants investigated differentially affected the splicing process at the intron 6-exon 7 boundary, and led to the synthesis of Kv7.2 subunits showing a differential sensitivity to PIP2 and CaM regulation; more studies are needed to clarify how such different functional properties contribute to the widely-divergent clinical phenotypes