The Sickle Cell Disease Ontology: enabling universal sickle cell-based knowledge representation

It is now widely accepted that the hemoglobinopathies are the most common monogenic diseases in humans. In this chapter we discuss the possible reasons for their very high frequency and uneven distribution among the world's population and describe recent attempts to determine their global health burden and how this might be managed.

SP59 Breakthrough cancer pain management: recommendations and international guidelines

Biological invasions, driven by human-mediated species movements, pose significant threats to global ecosystems and economies. The classification of non-native species is a complex issue intertwining ecological considerations and ethical concerns. The need for nuanced and less ambiguous terminology is emphasised, considering biogeographic, evolutionary, and ecological principles. In-country translocations of native species into ecosystems in which they do not naturally occur, are often overlooked and are the least regulated among species movements, despite being increasingly common in conservation. Our case studies, spanning various ecosystems and taxa, illustrate the diverse impacts of translocations on native species and ecosystems. The challenges associated with translocated species underscore the urgency for robust risk management strategies and rigorous monitoring. A comprehensive and adaptable management framework that considers translocated species for evidence-based management decisions is critical for navigating the complexities of translocations effectively, ensuring the conservation of biodiversity and ecosystem sustainability.

Sickle cell disease (SCD) in general and sickle cell anemia in particular is a highly complex disorder both at the molecular and clinical levels. Although the molecular lesion is a single-point mutation, the sickle gene is pleiotropic in nature causing multiple phenotypic expressions that constitute the various complications of the disease. Moreover, despite the fact that SCD is a chronic malady, its manifestations are both acute and chronic. The former include, among other things, the recurrent vaso-occlusive crises (its hallmark) and acute chest syndrome. The chronic complications include most commonly avascular necrosis and leg ulcers. Currently, survival of patients with SCD has improved dramatically thanks to newborn screening, antibiotic prophylaxis, better vaccine, safer blood transfusion and the use of hydroxyurea. It is the advent of these therapies that improved the survival. This improvement, however, introduced a third dimension of the disease: comorbidities that occur in aging people in the general population. There is concern that the gain in survival may be offset by the comorbidities. Thus it is the purpose of this review to identify the comorbidities in the elderly with SCD and differentiate them from the basis disease to implement proper therapies so that better survival could be maintained.

This introduction to the 10th issue of Linguistica Antverpiensia New Series – Themes in translation Studies (LANS-TTS) begins by discussing the central concept of community translation, highlighting its terminological ambiguity. This is in part due to the already well-established field of community interpreting where the term is often used to mean the written translation of public information for immigrants. It is also an indication of the terminological instability typical of an emerging paradigm. For example, community translation is used more or less synonymously with such terms as translation crowdsourcing, user-generated translation and collaborative translation. The meaning of the term as we discuss in this issue can be best specified when the concept is anchored in the context of Web 2.0 (second generation web-technologies). This in turn acknowledges its intrinsic tie to online communities and directs us to new dynamics resulting from general Internet users acting as translators. While participants in community translation are not necessarily all unpaid, untrained volunteers community translation is used by some organisations as a mechanism to obtain free translations by going outside the professional translation sphere. To this end the ethical question of profit-making enterprises accessing free labour on the pretext of openness and sharing remains. That said, the author believes community translation is far more than a dilettante, anti-professional movement. Building on the emerging picture from the contributions in this volume, the author suggests some of the future directions that research on community translation might take, emphasising the need to reflect on the current translation practices and be open to the new developments and opportunities arising from the free and social Internet.

Milestones refer to points along a continuum of a competency from novice to expert. Resident and fellow assessment and program evaluation processes adopted by the ACGME include the mandate that programs report the educational progress of residents and fellows twice annually utilizing Milestones developed by a specialty specific ACGME working group of experts. Milestones in clinical training programs are largely unmapped to specific assessment tools. Residents and fellows are mainly assessed using locally derived assessment instruments. These assessments are then reviewed by the Clinical Competency Committee which assigns and reports trainee ratings using the specialty specific reporting Milestones. The challenge and opportunity facing the nascent specialty of Clinical Informatics is how to optimally utilize this framework across a growing number of accredited fellowships. The authors review how a mapped milestone framework, in which each required sub-competency is mapped to a single milestone assessment grid, can enable the use of milestones for multiple uses including individualized learning plans, fellow assessments, and program evaluation. Furthermore, such a mapped strategy will foster the ability to compare fellow progress within and between Clinical Informatics Fellowships in a structured and reliable fashion. Clinical Informatics currently has far less variability across programs and thus could easily utilize a more tightly defined set of milestones with a clear mapping to sub-competencies. This approach would enable greater standardization of assessment instruments and processes across programs while allowing for variability in how those sub-competencies are taught. A mapped strategy for Milestones offers significant advantages for Clinical Informatics programs.

Medical informatics in the intensive care unit: Overview of technology assessment

Ontologies have gained increasing usage to augment an application with domain knowledge, particularly in healthcare, where they represent knowledge ranging from: bioinformatics data such as protein, gene, etc. to biomedical informatics such as diseases, diagnosis, symptoms, etc. However, the current ontology development efforts and process are data intensive and construction based, creating ontologies for specific applications/requirements, rather than designing an abstract ontological solution(s) that can be reusable across the domain using a well-defined design process. To address this deficiency, the work presented herein positions ontologies as software engineering artifact that allows them to be placed into the position to share the captured domain conceptualization and its vocabulary involving disparate domain backgrounds, that can then be created, imported, exported and re-used using different frameworks, tools and techniques. Towards this end, the authors propose an agile software process for ontologies referred to as the Hybrid Ontology Design & Development Model with Lifecycle,HOD2MLC. To place HOD2MLC into a proper perspective, they explore, compare, and contrast it to existing ontology design and development alternatives with respect their various phases as related to the authors' work and phases in varied SDP models.

Molecular pathogenesis of ADPKD: The polycystin complex gets complex

BackgroundAutosomal dominant polycystic kidney disease (ADPKD), one of the most common human monogenic diseases, is characterized by the presence of numerous fluid-filled renal cysts and is a leading cause of end-stage renal disease (ESRD). Urinary biomarkers may be useful for predicting the variable course of ADPKD progression from cyst growth to ESRD.MethodsTo identify candidate urinary biomarkers of ADPKD progression, we used CRISPR/Cas9 genome editing to generate porcine fibroblasts with mono- and biallelic ADPKD gene knockout (PKD2+/– and PKD2–/–, respectively). We then performed RNA-sequencing analysis on these cells.ResultsLevels of osteopontin (OPN), which is expressed by renal epithelial tubular cells and excreted into urine, were reduced in PKD2–/– cells but not in PKD2+/– cells. OPN levels were also reduced in the renal cyst cells of ADPKD patients. Next, we investigated whether OPN excretion was decreased in patients with ADPKD via enzyme-linked immunosorbent assay. OPN levels excreted into renal cyst cell culture media and urine from ADPKD patients were decreased. To investigate whether OPN can predict the rate of ADPKD progression, we compared urinary excretion of OPN in ADPKD patients with slow progression and those with rapid progression. Those with rapid progression had an estimated glomerular filtration rate of >60 mL/min/1.73 m2. Urinary OPN excretion levels were lower in rapid progressors than in slow progressors.ConclusionThese findings suggest that OPN is a useful urinary biomarker for predicting ADPKD progression.

Engagement of clinicians who understand clinical workflows and technology constraints can accelerate the development and implementation of better electronic health record (EHR) designs that improve quality and reduce burnout. Provider builder programs can accelerate clinical informatics education for a broader coalition of clinical specialties. In this State of the Art/Best Practice paper, we aim to (1) propose a provider builder maturity model informed by the experience of three institutions using a single EHR vendor (Epic Systems) and (2) describe the program elements and relationships necessary to advance along this model to yield organizational benefits. We used a modified version of the Glaser State-of-the-Art approach, gathering consensus among a small group of experts at institutions with successful provider builder programs. The model was updated through meetings with a larger group of experts and then feedback from presentation at national conferences and the American Medical Informatics Association's Maturity Model Working Group. The final maturity model describes the characteristics and suggested next steps beginning from Planting the Seed (Stage 0) and progressing through Lone Wolves (Stage 1), a Community of Builders (Stage 2), Organizational Structure (Stage 3), a Council of Builders (Stage 4), and Informatics in the Room Where it Happens (Stage 5). We also describe the journeys of three organizations through these stages. A provider builder maturity model can help guide organizations on their journey engaging clinicians in collaborative EHR design to promote quality and safety and reduce burnout.

Conceptual graphs as a universal knowledge representation

Better sharing of clinical research data will happen only if there are more incentives to help boost this area of work, concludes a report from four leading research organisations.1 The...

Context Individuals with high-level spinal cord injury (SCI) face serious cardiovascular (CV) autonomic complications, contributing to increased mortality and morbidity. The assessment of CV autonomic function in SCI is challenging and varies widely across studies, with no clear or definitive interventions to restore hemodynamic stability or prevent complications. Objectives This review outlines available clinical data on measuring and managing CV autonomic dysfunction after SCI and identifies gaps in these domains. Methods A scoping review was conducted, using a search strategy targeting broad keywords related to SCI, autonomic function parameters, and management from six relevant databases, as well as reference lists and gray literatures. Results Of 2,749 articles identified, 92 were included. Studies categorized CV autonomic complications by acute and chronic stages. High-level SCI was commonly associated with bradycardia, low BP, orthostatic hypotension, and autonomic dysreflexia, compared to lower thoracic SCI. However, the correlation between these complications and SCI completeness was unclear. Various measurement methods were used, including 24-hour ambulatory BP monitoring (ABPM), ECG derivatives, heart rate variability, sympathetic skin response, cold pressor test, head-up tilt, the International Standards to document Autonomic Function following SCI (ISAFSCI) and the Autonomic Dysfunction Following SCI (ADFSCI) tools. Of these, 24-hour ABPM demonstrated superiority in identifying diurnal variation and activity effects on CV conditions. Studies reported mixed outcomes for both pharmacological and non-pharmacological management of CV complications. Conclusion Research gaps persist, especially in sub-acute stages and in standardized tools for assessing CV autonomic dysfunction. Chronic complications have a long-term impact on health and CV disease risk. While promising methodologies exist, such as 24-hour ABPM and questionnaire-based assessments, further refinement is needed. Comprehensive management strategies should also be developed. This includes emerging techniques like spinal neuromodulation, which require extensive research and clinical trials.

This renowned work is derived from the authors' acclaimed national review course (Physics of Medical Imaging) at the University of California-Davis for radiology residents. The text is a guide to the fundamental principles of medical imaging physics, radiation protection and radiation biology, with complex topics presented in the clear and concise manner and style for which these authors are known. Coverage includes the production, characteristics and interactions of ionizing radiation used in medical imaging and the imaging modalities in which they are used, including radiography, mammography, fluoroscopy, computed tomography and nuclear medicine. Special attention is paid to optimizing patient dose in each of these modalities. Sections of the book address topics common to all forms of diagnostic imaging, including image quality and medical informatics as well as the non-ionizing medical imaging modalities of MRI and ultrasound. The basic science important to nuclear imaging, including the nature and production of radioactivity, internal dosimetry and radiation detection and measurement, are presented clearly and concisely. Current concepts in the fields of radiation biology and radiation protection relevant to medical imaging, and a number of helpful appendices complete this comprehensive textbook. The text is enhanced by numerous full color charts, tables, images and superb illustrations that reinforce central concepts. The book is ideal for medical imaging professionals, and teachers and students in medical physics and biomedical engineering. Radiology residents will find this text especially useful in bolstering their understanding of imaging physics and related topics prior to board exams. Features: new Four-color throughout; new Companion website with fully searchable text and images; basic line drawings help to explain concepts; comprehensive coverage of diagnostic imaging modalities; and superb writing style of the author team helps make a difficult subject approachable and engaging.