The University Library as Information Provider and Communication Facilitator: A Faculty Research Database

The current information explosion, coupled with rapid electronic developments and pervasive economic constraints, is forcing academic communities and their libraries to refine and rethink their policies and services in order to increase efficient dissemination of information. This requires close monitoring of and quicker response to the changing needs of their own user communities. This collaborative project addresses these issues by collecting and correlating information obtained directly from university faculty and research units, tracking elements such as research interests, projects, patents, funding sources, publications, and courses taught. Preliminary findings and the significance of providing wide electronic access to the results are discussed

Carnivory on demand: phosphorus deficiency induces glandular leaves in the African liana Triphyophyllum peltatum

Triphyophyllum peltatum, a rare tropical African liana, is unique in its facultative carnivory. The trigger for carnivory is yet unknown, mainly because the plant is difficult to propagate and cultivate. This study aimed at identifying the conditions that result in the formation of carnivorous leaves. In vitro shoots were subjected to abiotic stressors in general and deficiencies of the major nutrients nitrogen, potassium and phosphorus in particular, to trigger carnivorous leaves' development. Adventitious root formation was improved to allow verification of the trigger in glasshouse-grown plants. Among all the stressors tested, only under phosphorus deficiency, the formation of carnivorous leaves was observed. These glandular leaves fully resembled those found under natural growing conditions including the secretion of sticky liquid by mature capture organs. To generate plants for glasshouse experiments, a pulse of 55.4 μM α-naphthaleneacetic acid was essential to achieve 90% in vitro rooting. This plant material facilitated the confirmation of phosphorus starvation to be essential and sufficient for carnivory induction, also under ex vitro conditions. Having established the cultivation of T. peltatum and the induction of carnivory, future gene expression profiles from phosphorus starvation-induced leaves will provide important insight to the molecular mechanism of carnivory on demand

Closing the Loop: Engaging in a Sustainable and Continuous Cycle of Authentic Assessment to Improve Library Instruction

This study demonstrates how a team of librarians sustained authentic assessment across multiple studies in order to inform changes to an information literacy curriculum. It demonstrates the cyclical and action-based nature of assessment, including closing one loop only to reopen another and begin the assessment process again, emphasizing the importance of sustainability and making changes that increase student learning. Researchers analyzed 79 English composition papers for evidence of information literacy skills, expanding upon a previous study which established information literacy skill benchmarks. Findings from the previous study led to the development of new library instruction lessons, which targeted skills students struggled with – mainly topic refinement and information synthesis. To measure the impact of the modifications, the authors used two rubrics as well as a citation analysis to identify shifts in student learning. Findings indicate that the new lessons contribute to student improvements in synthesis, topic refinement, and source variety. This study illustrates the importance of engaging in an ongoing cycle of assessment and continually making improvements to instruction practices while implementing evidence-based decisions

Using WebGIS to Develop a Spatial Bibliography for Organizing, Mapping, and Disseminating Research Information: A Case Study of Quaking Aspen

On the Ground • Spatial data is valuable to researchers for locating studies that occur in a particular area of interest, or one with similar attributes. • Without a standard in publishing protocol, spatial data largely goes unreported, or is difficult to find without searching the publication. • Assigning location data and displaying points on a public web map makes locating publications based on spatial location possible

Bioenergetic Consequences of PINK1 Mutations in Parkinson Disease

BACKGROUND: Mutations of the gene for PTEN-induced kinase 1 (PINK1) are a cause of familial Parkinson's disease (PD). PINK1 protein has been localised to mitochondria and PINK1 gene knockout models exhibit abnormal mitochondrial function. The purpose of this study was to determine whether cells derived from PD patients with a range of PINK1 mutations demonstrate similar defects of mitochondrial function, whether the nature and severity of the abnormalities vary between mutations and correlate with clinical features. METHODOLOGY: We investigated mitochondrial bioenergetics in live fibroblasts from PINK1 mutation patients using single cell techniques. We found that fibroblasts from PINK1 mutation patients had significant defects of bioenergetics including reduced mitochondrial membrane potential, altered redox state, a respiratory deficiency that was determined by substrate availability, and enhanced sensitivity to calcium stimulation and associated mitochondrial permeability pore opening. There was an increase in the basal rate of free radical production in the mutant cells. The pattern and severity of abnormality varied between different mutations, and the less severe defects in these cells were associated with later age of onset of PD. CONCLUSIONS: The results provide insight into the molecular pathology of PINK1 mutations in PD and also confirm the critical role of substrate availability in determining the biochemical phenotype--thereby offering the potential for novel therapeutic strategies to circumvent these abnormalities

Mutations in PINK1 and Parkin Impair Ubiquitination of Mitofusins in Human Fibroblasts

PINK1 and Parkin mutations cause recessive Parkinson's disease (PD). In Drosophila and SH-SY5Y cells, Parkin is recruited by PINK1 to damaged mitochondria, where it ubiquitinates Mitofusins and consequently promotes mitochondrial fission and mitophagy

Lessons learned from the first European project on the integration of infectious diseases in testing services, data collection and country responses.

Despite the progress in effective treatments for HIV, viral hepatitis, tuberculosis and sexually transmitted infections (STIs), these infections remain major public health concerns across Europe. Recurring challenges of late presentation and unprioritized prevention programmes need to be effectively addressed in order to control and prevent transmission and ensure that people are diagnosed early and rapidly enter the care system. The prevalence of co-infections is high due to the social context of key populations and the shared modes of transmission, varying with local epidemiology, which underlines the need to combine efforts throughout the continuum of care

A Recurrent Mutation in KCNA2 as a Novel Cause of Hereditary Spastic Paraplegia and Ataxia

The hereditary spastic paraplegias (HSPs) are heterogeneous neurodegenerative disorders with over 50 known causative genes. We identified a recurrent mutation in KCNA2 (c.881G>A, p.R294H), encoding the voltage-gated K+-channel, K(V)1.2, in two unrelated families with HSP, intellectual disability (ID), and ataxia. Follow-up analysis of >2,000 patients with various neurological phenotypes identified a de novo p.R294H mutation in a proband with ataxia and ID. Two-electrode voltage-clamp recordings of Xenopus laevis oocytes expressing mutant KV1.2 channels showed loss of function with a dominant-negative effect. Our findings highlight the phenotypic spectrum of a recurrent KCNA2 mutation, implicating ion channel dysfunction as a novel HSP disease mechanism.Peer reviewe

The German National Registry of Primary Immunodeficiencies (2012-2017)

Introduction: The German PID-NET registry was founded in 2009, serving as the first national registry of patients with primary immunodeficiencies (PID) in Germany. It is part of the European Society for Immunodeficiencies (ESID) registry. The primary purpose of the registry is to gather data on the epidemiology, diagnostic delay, diagnosis, and treatment of PIDs. Methods: Clinical and laboratory data was collected from 2,453 patients from 36 German PID centres in an online registry. Data was analysed with the software Stata® and Excel. Results: The minimum prevalence of PID in Germany is 2.72 per 100,000 inhabitants. Among patients aged 1–25, there was a clear predominance of males. The median age of living patients ranged between 7 and 40 years, depending on the respective PID. Predominantly antibody disorders were the most prevalent group with 57% of all 2,453 PID patients (including 728 CVID patients). A gene defect was identified in 36% of patients. Familial cases were observed in 21% of patients. The age of onset for presenting symptoms ranged from birth to late adulthood (range 0–88 years). Presenting symptoms comprised infections (74%) and immune dysregulation (22%). Ninety-three patients were diagnosed without prior clinical symptoms. Regarding the general and clinical diagnostic delay, no PID had undergone a slight decrease within the last decade. However, both, SCID and hyper IgE- syndrome showed a substantial improvement in shortening the time between onset of symptoms and genetic diagnosis. Regarding treatment, 49% of all patients received immunoglobulin G (IgG) substitution (70%—subcutaneous; 29%—intravenous; 1%—unknown). Three-hundred patients underwent at least one hematopoietic stem cell transplantation (HSCT). Five patients had gene therapy. Conclusion: The German PID-NET registry is a precious tool for physicians, researchers, the pharmaceutical industry, politicians, and ultimately the patients, for whom the outcomes will eventually lead to a more timely diagnosis and better treatment