Progressive breathlessness post mitral valve replacement

AbstractParavalvular leak occurs in 1–5% patients following surgical valve replacement and is associated with complications including haemolysis, heart failure and endocarditis. Re-do surgery is difficult with mortality rates approaching 16%. Percutaneous closure of mitral valve leaks with occluder devices is a viable alternative to repeat sternotomy; however, clinicians should be aware of contra-indications which include active endocarditis. Management of paravalvular leak is complex and success requires multi-disciplinary approach with cardiothoracic surgeons, clinical, imaging and interventional cardiologists

Dietetics students’ construction of competence through assessment and placement experiences

Aim Competency standards are widely adopted as a framework to describe standards of performance required in the workplace. Little is known, however, about how students construct competence. This qualitative study aimed to explore how dietetics students ready to graduate construct the concept of competence and the role of assessment in developing professional competence. Methods A qualitative description was used to gather data from a convenience sample of students ready to graduate from universities with accredited dietetics programs across Australia (10 out of 15 at the time of the study). A total of 11 focus groups were conducted to explore perspectives of competence and experiences of ‘competency-based’ assessment. Data were audio-recorded, transcribed and analysed using a thematic analysis approach. Results A total of 81 (n = 81) participants across 10 universities representing 22% of total students participated in the focus groups. Themes revealed that: (i) there is no shared understanding of competence; (ii) current work placement experiences may not reflect current standards or workforce needs; (iii) assessment approaches may not fully support the development of competence; and (iv) the competent performance of supervising dietitians/clinical educators in the workplace influences the construction of competence. Conclusions There is a need to work towards a shared understanding of dietetic entry-level competence in the profession. ‘Work-based’ learning experiences may need to be modified to ensure students meet current competency standards. Practitioners involved in student supervision need to acknowledge the influential role they have in the development of the future workforce

Quantitative profiling of peptides from RNAs classified as noncoding.

Only a small fraction of the mammalian genome codes for messenger RNAs destined to be translated into proteins, and it is generally assumed that a large portion of transcribed sequences--including introns and several classes of noncoding RNAs (ncRNAs)--do not give rise to peptide products. A systematic examination of translation and physiological regulation of ncRNAs has not been conducted. Here we use computational methods to identify the products of non-canonical translation in mouse neurons by analysing unannotated transcripts in combination with proteomic data. This study supports the existence of non-canonical translation products from both intragenic and extragenic genomic regions, including peptides derived from antisense transcripts and introns. Moreover, the studied novel translation products exhibit temporal regulation similar to that of proteins known to be involved in neuronal activity processes. These observations highlight a potentially large and complex set of biologically regulated translational events from transcripts formerly thought to lack coding potential

Representing kidney development using the gene ontology.

Gene Ontology (GO) provides dynamic controlled vocabularies to aid in the description of the functional biological attributes and subcellular locations of gene products from all taxonomic groups (www.geneontology.org). Here we describe collaboration between the renal biomedical research community and the GO Consortium to improve the quality and quantity of GO terms describing renal development. In the associated annotation activity, the new and revised terms were associated with gene products involved in renal development and function. This project resulted in a total of 522 GO terms being added to the ontology and the creation of approximately 9,600 kidney-related GO term associations to 940 UniProt Knowledgebase (UniProtKB) entries, covering 66 taxonomic groups. We demonstrate the impact of these improvements on the interpretation of GO term analyses performed on genes differentially expressed in kidney glomeruli affected by diabetic nephropathy. In summary, we have produced a resource that can be utilized in the interpretation of data from small- and large-scale experiments investigating molecular mechanisms of kidney function and development and thereby help towards alleviating renal disease

Improving Interpretation of Cardiac Phenotypes and Enhancing Discovery With Expanded Knowledge in the Gene Ontology.

BACKGROUND: A systems biology approach to cardiac physiology requires a comprehensive representation of how coordinated processes operate in the heart, as well as the ability to interpret relevant transcriptomic and proteomic experiments. The Gene Ontology (GO) Consortium provides structured, controlled vocabularies of biological terms that can be used to summarize and analyze functional knowledge for gene products. METHODS AND RESULTS: In this study, we created a computational resource to facilitate genetic studies of cardiac physiology by integrating literature curation with attention to an improved and expanded ontological representation of heart processes in the Gene Ontology. As a result, the Gene Ontology now contains terms that comprehensively describe the roles of proteins in cardiac muscle cell action potential, electrical coupling, and the transmission of the electrical impulse from the sinoatrial node to the ventricles. Evaluating the effectiveness of this approach to inform data analysis demonstrated that Gene Ontology annotations, analyzed within an expanded ontological context of heart processes, can help to identify candidate genes associated with arrhythmic disease risk loci. CONCLUSIONS: We determined that a combination of curation and ontology development for heart-specific genes and processes supports the identification and downstream analysis of genes responsible for the spread of the cardiac action potential through the heart. Annotating these genes and processes in a structured format facilitates data analysis and supports effective retrieval of gene-centric information about cardiac defects. Circ Genom Precis Med 2018 Feb; 11(2):e001813

The Gene Ontology's Reference Genome Project: A Unified Framework for Functional Annotation across Species

The Gene Ontology (GO) is a collaborative effort that provides structured vocabularies for annotating the molecular function, biological role, and cellular location of gene products in a highly systematic way and in a species-neutral manner with the aim of unifying the representation of gene function across different organisms. Each contributing member of the GO Consortium independently associates GO terms to gene products from the organism(s) they are annotating. Here we introduce the Reference Genome project, which brings together those independent efforts into a unified framework based on the evolutionary relationships between genes in these different organisms. The Reference Genome project has two primary goals: to increase the depth and breadth of annotations for genes in each of the organisms in the project, and to create data sets and tools that enable other genome annotation efforts to infer GO annotations for homologous genes in their organisms. In addition, the project has several important incidental benefits, such as increasing annotation consistency across genome databases, and providing important improvements to the GO's logical structure and biological content

Review of determinants of national medical leadership development

Increasingly, physician engagement in management, quality and innovation is being recognised as vital, requiring ’medical leadership’ (ML) competencies. Besides numerous local institutional efforts and despite the high level of autonomy of the medical profession and the education of its members, in some countries, national level activities are focusing on developing ML competencies to guide physicians in more effectively engaging in these non-medical activities. Up to this date, little is known about effective strategies and tactics for developing ML on a national level. This study investigates existing literature on determinants and interventions for national ML development. We performed a scoping review and subsequent systematic literature review of published reviews, using PubMed, Scopus, Web of Science, Ovid MEDLINE and Science Direct in search for eligible papers between 2011 and 2016. Full-text versions of 43 papers were studied, and a snowballing method was deployed. Data extraction included grounded theory coding, and synthesis of data was done iteratively during data clinics. Analysis of the seven included papers resulted in five discrete categories of determinants of and 10 distinct interventions relevant to national development of ML approaches. None of the papers reported on any specific phasing of national ML development. Our data suggest that local and national level activities in ML development should consider multifaceted and multilevel approaches, taking into account resistance to change and redesign of institutionalised logics that accompany changing positions and reconstruction of professional identities of physicians

Phases to face in national medical leadership development

Increasing economic and organizational challenges call physicians in action to engage in medical leadership (ML) roles. Yet, in only six of the 195 countries the content of ML development has recently been articulated in the form of comprehensive national schemes or programs. Despite increasing scientific evidence pointing to the great relevance of ML and the often-reported hesitance of physicians to engage in ML, little is known about effective strategies and tactics for national ML development. This empirical paper reports on such developments in cultivating a national ML corps. A theorizing inventory of scientific literature on healthcare transformation was combined with an exploratory field study, scrutinizing six “trail blazing” countries: also through archival data analysis and semi-structured interviews. We identified fourteen factors that affect ML national schemes as well as eleven related “interventions”. We propose a developmental phasing model with four phases in national ML development. The results provide insights to nations embarking on their journeys of ML development, thereby enabling medical leaders through teachable/trainable programs. These insights aim to spur more physicians to use new ways to optimize the quality of care, not just for the patients they serve, but also for the health system in which they act

Clinical indications and triaging for adult transthoracic echocardiography: a consensus statement by the British Society of Echocardiography in collaboration with British Heart Valve Society

Abstract Transthoracic echocardiography (TTE) is widely utilised within many aspects of clinical practice, as such the demand placed on echocardiography services is ever increasing. In an attempt to provide incremental value for patients and standardise patient care, the British Society of Echocardiography in collaboration with the British Heart Valve Society have devised updated guidance for the indications and triaging of adult TTE requests for TTE services to implement into clinical practice