CEPLER National Essay Competition runners-up: In an age of austerity, access to justice is a luxury

In the inaugural CEPLER Essay Competition 2014, Salmaan Hassanally, Amelia Skelding, and Jill Wong were worthy runners-up, submitting well-crafted and balanced responses. Their full essays are included in this paper

A murine model of variant late infantile ceroid lipofuscinosis recapitulates behavioral and pathological phenotypes of human disease.

Neuronal ceroid lipofuscinoses (NCLs; also known collectively as Batten Disease) are a family of autosomal recessive lysosomal storage disorders. Mutations in as many as 13 genes give rise to ∼10 variants of NCL, all with overlapping clinical symptomatology including visual impairment, motor and cognitive dysfunction, seizures, and premature death. Mutations in CLN6 result in both a variant late infantile onset neuronal ceroid lipofuscinosis (vLINCL) as well as an adult-onset form of the disease called Type A Kufs. CLN6 is a non-glycosylated membrane protein of unknown function localized to the endoplasmic reticulum (ER). In this study, we perform a detailed characterization of a naturally occurring Cln6 mutant (Cln6(nclf)) mouse line to validate its utility for translational research. We demonstrate that this Cln6(nclf) mutation leads to deficits in motor coordination, vision, memory, and learning. Pathologically, we demonstrate loss of neurons within specific subregions and lamina of the cortex that correlate to behavioral phenotypes. As in other NCL models, this model displays selective loss of GABAergic interneuron sub-populations in the cortex and the hippocampus with profound, early-onset glial activation. Finally, we demonstrate a novel deficit in memory and learning, including a dramatic reduction in dendritic spine density in the cerebral cortex, which suggests a reduction in synaptic strength following disruption in CLN6. Together, these findings highlight the behavioral and pathological similarities between the Cln6(nclf) mouse model and human NCL patients, validating this model as a reliable format for screening potential therapeutics

Does type 1 diabetes mellitus affect Achilles tendon response to a 10 km run? A case control study Epidemiology of musculoskeletal disorders

Background: Achilles tendon structure deteriorates 2-days after maximal loading in elite athletes. The load-response behaviour of tendons may be altered in type 1 diabetes mellitus (T1DM) as hyperglycaemia accelerates collagen cross-linking. This study compared Achilles tendon load-response in participants with T1DM and controls. Methods: Achilles tendon structure was quantified at day-0, day-2 and day-4 after a 10 km run. Ultrasound tissue characterisation (UTC) measures tendon structural integrity by classifying pixels as echo-type I, II, III or IV. Echo-type I has the most aligned collagen fibrils and IV has the least. Results: Participants were 7 individuals with T1DM and 10 controls. All regularly ran distances greater than 5 km and VISA-A scores indicated good tendon function (T1DM = 94 +/- 11, control = 94 +/- 10). There were no diabetic complications and HbA1c was 8.7 +/- 2.6 mmol/mol for T1DM and 5.3 +/- 0.4 mmol/mol for control groups. Baseline tendon structure was similar in T1DM and control groups -UTC echo-types (I-IV) and anterior-posterior thickness were all p > 0.05. No response to load was seen in either T1DM or control group over the 4-days post exercise. Conclusion: Active individuals with T1DM do not have a heightened Achilles tendon response to load, which suggests no increased risk of tendon injury. We cannot extrapolate these findings to sedentary individuals with T1DM

Sashimi plots: Quantitative visualization of RNA sequencing read alignments

We introduce Sashimi plots, a quantitative multi-sample visualization of mRNA sequencing reads aligned to gene annotations. Sashimi plots are made using alignments (stored in the SAM/BAM format) and gene model annotations (in GFF format), which can be custom-made by the user or obtained from databases such as Ensembl or UCSC. We describe two implementations of Sashimi plots: (1) a stand-alone command line implementation aimed at making customizable publication quality figures, and (2) an implementation built into the Integrated Genome Viewer (IGV) browser, which enables rapid and dynamic creation of Sashimi plots for any genomic region of interest, suitable for exploratory analysis of alternatively spliced regions of the transcriptome. Isoform expression estimates outputted by the MISO program can be optionally plotted along with Sashimi plots. Sashimi plots can be used to quickly screen differentially spliced exons along genomic regions of interest and can be used in publication quality figures. The Sashimi plot software and documentation is available from: http://genes.mit.edu/burgelab/miso/docs/sashimi.htmlComment: 2 figure

Surgically cured hypoglycemia secondary to pleural solitary fibrous tumour: case report and update review on the Doege-Potter syndrome

The association of paraneoplastic hypoglycemia [Doege-Potter syndrome] and finger clubbing [Pierre-Marie-Bamberg syndrome] with pleural solitary fibrous tumour is rare. We present a previously unpublished but typical example of this rare occurrence together with a detailed updated literature review of previously published cases of pleural SFT discussing the histopathology of SFT; pathophysiology of the hypoglycemia and finger clubbing; treatment and outcome of pleural SFT. The patient, a 57-year-old African male was admitted at our hospital with recurrent episodes of hypoglycemia. He was found to have digital clubbing and decreased breath sounds in the right lower chest but no other significant clinical findings. His insulin level measured during an episode of hypoglycemia was undetectable. Chest radiograph and CT-scan revealed a lobulated mass in the right chest which was diagnosed to be SFT on histology. Surgical excision of the mass resulted in cure of the hypoglycemic episodes and rapid regression of the clubbing. Less than 65 cases of pleural SFT manifesting with hypoglycemia with or without finger-clubbing have been published in the English literature. The mean diameter of these tumours manifesting with hypoglycemia is 20 cm, 54% being benign while 42% were malignant. They predominantly present in the 6th-8th decade, average age of 64 years and a slight male preponderance at 58%. Complete surgical resection remains the most important predictor of clinical outcome in terms of recurrence and metastases, while providing instant cure for the hypoglycemia and rapid resolution of the finger clubbing

A Reading Tutor for Low-Literacy Adults

According to the Organization for Economic Cooperation and Development (OECD), the mean proficiency in literacy among adults in the US and Canada is at Level 2. Adults at this level cannot process dense texts, eliminate irrelevant information, perform multi-step operations, or evaluate the reliability of a source. The Reading Tutor is a website that was created to help low-literacy adults improve their English. It will be free to use the website that is personalized to the literacy level of every user. Creating a website allows people to increase their literacy levels without facing the stigma that comes with attending a class in person. Adults are inclined to improve their English because it often affects their career potential, socio-economic status, and health. The Reading Tutor has two major components: the passages and the scenarios. Passages are stories that the user can read and answer questions about. Scenarios are plots with questions that the user must answer to move on. In recent work, the information for each scenario was organized into spreadsheets to simplify the process of entering data into the code.  The system architecture consists of HTML, CSS, Javascript, MySQL, Python, and Django. The newest development in this project was the improvement of the user intake experience. Before starting the passages and scenarios, the website collects information from each adult. The user "interests" pages are the latest additions to the site and these pages ask about the user’s hobbies. That data will then be used to incorporate their interests into later questions. It was important to add this feature to the website because relevance is a motivator for the user demographic. The next steps for the website are to log the user’s interests into the database. Future enhancements also include the creation of more scenarios to accommodate to the different user interests. &nbsp

The evolution of multiagency partnerships for safety over the course of research engagement: experiences from the NoGAPS project

Objective: Implementation of effective population-level injury prevention interventions requires broad multiagency partnerships. Different stakeholders address this from varying perspectives, and potential conflicts in priorities need to be addressed for such partnerships to be effective. The researcher-led National Guidance for Australian football Partnerships and Safety (NoGAPS) project involved the engagement and participation of seven non-academic partners, including government health promotion and safety agencies; peak sports professional and advocacy bodies and health insurance organisations. Design: The partnership's ongoing development was assessed by each partner completing the Victorian Health Promotion Foundation Partnership Analysis Tool (VPAT) annually over 2011–2015. Changes in VPAT scores were compared through repeated measures analysis of variance. Results: Overall, mean total VPAT scores increased significantly over the 5-year period (125.1–141.2; F5,30=4.61, p=0.003), showing a significant improvement in how the partnership was functioning over time. This was largely driven by significant increases in several VPAT domains: ‘determining the need for a partnership’ (F5,30=4.15, p=0.006), ‘making sure the partnership works’ (F5,30=2.59, p=0.046), ‘planning collaborative action’ (F5,30=5.13, p=0.002) and ‘minimising the barriers to the partnership’ (F5,30=6.66, p<0.001). Conclusion: This is the first study to assess the functioning of a multiagency partnership to address sport injury prevention implementation. For NoGAPS, the engagement of stakeholders from the outset facilitated the development of new and/or stronger links between non-academic partners. Partners shared the common goal of ensuring the real-world uptake of interventions and research evidence-informed recommendations. Effective multiagency partnerships have the potential to influence the implementation of policies and practices beyond the life of a research project.Full Tex

Defining a Paradigm for the Dissemination of Health Information to Immigrant Populations at the Fletcher Free Library

Abstract: In recent years, the surge of refugee families to the greater Burlington area has lead to a significant increase in the minority population of the city. The Fletcher Free Library (FFL) represents a potential health information resource for this population; it is, however, little utilized. Our project sought to target one of these minority populations, the Somali Bantu, and to diminish the barriers to the use of the FFL’s resources within the Somali population itself. To reduce barriers to access of health information by the Somali Bantu population, we educated the FFl’s reference librarians on Somali culture, developed a compendium of health information in both English and Somali for inclusion within the library’s collection, and staged a one-day intervention at the Community Health Center of Burlington to present the FFL as a potential source of health information for refugee populations. Somali Bantu use of the library, as well as reference librarian confidence in serving this minority population,was objectively assessed via pre- and post-interventional surveys.https://scholarworks.uvm.edu/comphp_gallery/1022/thumbnail.jp

Papillary lesions of the breast: imaging findings and diagnostic challenges

Papillary breast lesions encompass a wide spectrum of pathologies ranging from benign lesions, such as solitary intraductal papilloma, to the uncommon papillary carcinoma. These lesions have various clinical presentations and diverse radiological features. Differentiating benign and malignant papillary lesions based on imaging features may often be difficult. Other benign and malignant pathologies can also mimic papillary lesions on imaging, and tissue diagnosis is essential. Imaging plays an important role in lesion identification, assessment of extent, tissue sampling, and follow-up. Surgical excision has been recommended for all papillary lesions due to an increased incidence of high-risk lesions and neoplasia even with percutaneous, biopsy-proven benign papillomas. This review looks at papillary breast lesions from the radiologists’ standpoint and discusses the clinical, imaging, and pathological features of these lesions, as well as the role of imaging in their evaluation