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BMC Medicine May 2020Individuals with co-occurring hyperactivity disorder/hyperactivity disorder (ADHD) and autism spectrum disorder (ASD) can have complex presentations that may complicate...
BACKGROUND
Individuals with co-occurring hyperactivity disorder/hyperactivity disorder (ADHD) and autism spectrum disorder (ASD) can have complex presentations that may complicate diagnosis and treatment. There are established guidelines with regard to the identification and treatment of ADHD and ASD as independent conditions. However, ADHD and ASD were not formally recognised diagnostically as co-occurring conditions until the Diagnostic and Statistical Manual of Mental Disorders 5 (DSM-5) was published in 2013. Hence, awareness and understanding of both conditions when they co-occur is less established and there is little guidance in the clinical literature. This has led to uncertainty among healthcare practitioners when working with children, young people and adults who present with co-existing ADHD and ASD. The United Kingdom ADHD Partnership (UKAP) therefore convened a meeting of professional experts that aimed to address this gap and reach expert consensus on the topic that will aid healthcare practitioners and allied professionals when working with this complex and vulnerable population.
METHOD
UK experts from multiple disciplines in the fields of ADHD and ASD convened in London in December 2017. The meeting provided the opportunity to address the complexities of ADHD and ASD as a co-occurring presentation from different perspectives and included presentations, discussion and group work. The authors considered the clinical challenges of working with this complex group of individuals, producing a consensus for a unified approach when working with male and female, children, adolescents and adults with co-occurring ADHD and ASD. This was written up, circulated and endorsed by all authors.
RESULTS
The authors reached a consensus of practical recommendations for working across the lifespan with males and females with ADHD and ASD. Consensus was reached on topics of (1) identification and assessment using rating scales, clinical diagnostic interviews and objective supporting assessments; outcomes of assessment, including standards of clinical reporting; (2) non-pharmacological interventions and care management, including psychoeducation, carer interventions/carer training, behavioural/environmental and Cognitive Behavioural Therapy (CBT) approaches; and multi-agency liaison, including educational interventions, career advice, occupational skills and training, and (3) pharmacological treatments.
CONCLUSIONS
The guidance and practice recommendations (Tables 1, 4, 5, 7, 8 and 10) will support healthcare practitioners and allied professionals to meet the needs of this complex group from a multidisciplinary perspective. Further research is needed to enhance our understanding of the diagnosis, treatment and management of individuals presenting with comorbid ADHD and ASD.
Topics: Adolescent; Adult; Attention Deficit Disorder with Hyperactivity; Autism Spectrum Disorder; Child; Consensus; Diagnostic and Statistical Manual of Mental Disorders; Female; Humans; Male; Young Adult
PubMed: 32448170
DOI: 10.1186/s12916-020-01585-y -
Nucleic Acids Research Jan 2015Ensembl (http://www.ensembl.org) is a genomic interpretation system providing the most up-to-date annotations, querying tools and access methods for chordates and key...
Ensembl (http://www.ensembl.org) is a genomic interpretation system providing the most up-to-date annotations, querying tools and access methods for chordates and key model organisms. This year we released updated annotation (gene models, comparative genomics, regulatory regions and variation) on the new human assembly, GRCh38, although we continue to support researchers using the GRCh37.p13 assembly through a dedicated site (http://grch37.ensembl.org). Our Regulatory Build has been revamped to identify regulatory regions of interest and to efficiently highlight their activity across disparate epigenetic data sets. A number of new interfaces allow users to perform large-scale comparisons of their data against our annotations. The REST server (http://rest.ensembl.org), which allows programs written in any language to query our databases, has moved to a full service alongside our upgraded website tools. Our online Variant Effect Predictor tool has been updated to process more variants and calculate summary statistics. Lastly, the WiggleTools package enables users to summarize large collections of data sets and view them as single tracks in Ensembl. The Ensembl code base itself is more accessible: it is now hosted on our GitHub organization page (https://github.com/Ensembl) under an Apache 2.0 open source license.
Topics: Animals; Databases, Nucleic Acid; Epigenesis, Genetic; Genetic Variation; Genome, Human; Genomics; Humans; Internet; Mice; Molecular Sequence Annotation; Regulatory Sequences, Nucleic Acid; Software
PubMed: 25352552
DOI: 10.1093/nar/gku1010 -
Proceedings of the National Academy of... Jan 2022Life on Earth has evolved from initial simplicity to the astounding complexity we experience today. Bacteria and archaea have largely excelled in metabolic...
Life on Earth has evolved from initial simplicity to the astounding complexity we experience today. Bacteria and archaea have largely excelled in metabolic diversification, but eukaryotes additionally display abundant morphological innovation. How have these innovations come about and what constraints are there on the origins of novelty and the continuing maintenance of biodiversity on Earth? The history of life and the code for the working parts of cells and systems are written in the genome. The Earth BioGenome Project has proposed that the genomes of all extant, named eukaryotes-about 2 million species-should be sequenced to high quality to produce a digital library of life on Earth, beginning with strategic phylogenetic, ecological, and high-impact priorities. Here we discuss why we should sequence all eukaryotic species, not just a representative few scattered across the many branches of the tree of life. We suggest that many questions of evolutionary and ecological significance will only be addressable when whole-genome data representing divergences at all of the branchings in the tree of life or all species in natural ecosystems are available. We envisage that a genomic tree of life will foster understanding of the ongoing processes of speciation, adaptation, and organismal dependencies within entire ecosystems. These explorations will resolve long-standing problems in phylogenetics, evolution, ecology, conservation, agriculture, bioindustry, and medicine.
Topics: Animals; Base Sequence; Biodiversity; Biological Evolution; Ecology; Ecosystem; Eukaryota; Genome; Genomics; Humans; Phylogeny
PubMed: 35042801
DOI: 10.1073/pnas.2115636118 -
RoFo : Fortschritte Auf Dem Gebiete Der... Jan 2019The radiology report is the key component in the communication between radiologists and referring clinicians. Traditionally, reports are written as free text. Several... (Review)
Review
BACKGROUND
The radiology report is the key component in the communication between radiologists and referring clinicians. Traditionally, reports are written as free text. Several studies have shown that structured reporting using dedicated report templates has a number of advantages compared to conventional reports. Therefore, many radiological societies have recommended the implementation of structured reporting in clinical routine.
METHOD
In the meantime, collections of freely available templates have been presented and software solutions for structured reporting have been made commercially available. These allow for quality improvements in the written radiology report as they ensure that all relevant clinical information is included. Most vendors mainly supply proprietary report templates or allow users to create templates for their own institution. The German Radiological Society (DRG) has the goal of developing consensus-based, quality-assured report templates and providing them under a free license.
RESULTS
The DRG has developed its first consensus-based report templates and provides them at www.befundung.drg.de. Further report templates will be developed in close cooperation with the respective committees of the DRG and referring clinicians.
CONCLUSION
Structured reporting allows for a significant improvement in the quality of written radiology reports. The use of report templates requires personal and technical changes to the reporting process itself. Radiology should face these challenges in its leading role in the application of modern IT-based solutions. Vendors are now encouraged to provide practical solutions.
KEY POINTS
· Structured reports have numerous advantages over conventional narrative reports.. · The German Radiological Society is developing consensus-based and quality assured report templates.. · Report templates are provided at www.befundung.drg.de under a free license.. · Vendors are now encouraged to provide solutions for the implementation of structured reporting..
CITATION FORMAT
· Pinto dos Santos D, Hempel J, Mildenberger P et al. Structured Reporting in Clinical Routine. Fortschr Röntgenstr 2019; 191: 33 - 39.
Topics: Documentation; Germany; Humans; Interdisciplinary Communication; Intersectoral Collaboration; Quality Assurance, Health Care; Radiology Information Systems; Research Report
PubMed: 30103236
DOI: 10.1055/a-0636-3851 -
Journal of Medical Internet Research Nov 2022Topic modeling approaches allow researchers to analyze and represent written texts. One of the commonly used approaches in psychology is latent Dirichlet allocation... (Review)
Review
BACKGROUND
Topic modeling approaches allow researchers to analyze and represent written texts. One of the commonly used approaches in psychology is latent Dirichlet allocation (LDA), which is used for rapidly synthesizing patterns of text within "big data," but outputs can be sensitive to decisions made during the analytic pipeline and may not be suitable for certain scenarios such as short texts, and we highlight resources for alternative approaches. This review focuses on the complex analytical practices specific to LDA, which existing practical guides for training LDA models have not addressed.
OBJECTIVE
This scoping review used key analytical steps (data selection, data preprocessing, and data analysis) as a framework to understand the methodological approaches being used in psychology research using LDA.
METHODS
A total of 4 psychology and health databases were searched. Studies were included if they used LDA to analyze written words and focused on a psychological construct or issue. The data charting processes were constructed and employed based on common data selection, preprocessing, and data analysis steps.
RESULTS
A total of 68 studies were included. These studies explored a range of research areas and mostly sourced their data from social media platforms. Although some studies reported on preprocessing and data analysis steps taken, most studies did not provide sufficient detail for reproducibility. Furthermore, the debate surrounding the necessity of certain preprocessing and data analysis steps is revealed.
CONCLUSIONS
Our findings highlight the growing use of LDA in psychological science. However, there is a need to improve analytical reporting standards and identify comprehensive and evidence-based best practice recommendations. To work toward this, we developed an LDA Preferred Reporting Checklist that will allow for consistent documentation of LDA analytic decisions and reproducible research outcomes.
Topics: Humans; Reproducibility of Results; Big Data; Documentation; Databases, Factual
PubMed: 36346659
DOI: 10.2196/33166 -
Revista de Neurologia Feb 2017Kanner, in 1943, and Asperger, in 1944, published papers that have been considered the first descriptions of autism. Kanner is acknowledged as having been the first to...
Kanner, in 1943, and Asperger, in 1944, published papers that have been considered the first descriptions of autism. Kanner is acknowledged as having been the first to recognise this condition, while Asperger is attributed with the identification of a milder form of autism which has been denominated Asperger's syndrome. Kanner's paper played an important role in the development of the conceptualisation of autism due to its being published in the United States, where it became popular in the field of child psychiatry. In contrast, Asperger's work, written in German during the period dominated by Nazism, was practically ignored until almost four decades later. A review of the historical data, mostly collected by Silberman, reveals that Kanner had first-hand knowledge of the work on autism that Asperger had begun ten years earlier. Moreover, on re-reading and analysing the pioneering publications it becomes clear that the contributions made by Asperger are still fully valid today, to the point of having intuited a complex polygenic aetiology and that it would fit in perfectly with autism spectrum disorder in the DSM-5.
Topics: Asperger Syndrome; Autistic Disorder; Child; Diagnostic and Statistical Manual of Mental Disorders; History, 20th Century; Humans
PubMed: 28256681
DOI: No ID Found -
Bioinformatics (Oxford, England) Oct 2023Pangenomes are replacing single reference genomes as the definitive representation of DNA sequence within a species or clade. Pangenome analysis predominantly leverages...
SUMMARY
Pangenomes are replacing single reference genomes as the definitive representation of DNA sequence within a species or clade. Pangenome analysis predominantly leverages graph-based methods that require computationally intensive multiple genome alignments, do not scale to highly complex eukaryotic genomes, limit their scope to identifying structural variants (SVs), or incur bias by relying on a reference genome. Here, we present PanKmer, a toolkit designed for reference-free analysis of pangenome datasets consisting of dozens to thousands of individual genomes. PanKmer decomposes a set of input genomes into a table of observed k-mers and their presence-absence values in each genome. These are stored in an efficient k-mer index data format that encodes SNPs, INDELs, and SVs. It also includes functions for downstream analysis of the k-mer index, such as calculating sequence similarity statistics between individuals at whole-genome or local scales. For example, k-mers can be "anchored" in any individual genome to quantify sequence variability or conservation at a specific locus. This facilitates workflows with various biological applications, e.g. identifying cases of hybridization between plant species. PanKmer provides researchers with a valuable and convenient means to explore the full scope of genetic variation in a population, without reference bias.
AVAILABILITY AND IMPLEMENTATION
PanKmer is implemented as a Python package with components written in Rust, released under a BSD license. The source code is available from the Python Package Index (PyPI) at https://pypi.org/project/pankmer/ as well as Gitlab at https://gitlab.com/salk-tm/pankmer. Full documentation is available at https://salk-tm.gitlab.io/pankmer/.
Topics: Humans; Genome; Software; Eukaryota; Documentation; Sequence Analysis, DNA
PubMed: 37846049
DOI: 10.1093/bioinformatics/btad621 -
Jornal Brasileiro de Pneumologia :... Oct 2008These guidelines are an up-to-date and comprehensive tool to aid health professionals in treating smokers, recommending measures and strategies for managing each case... (Review)
Review
These guidelines are an up-to-date and comprehensive tool to aid health professionals in treating smokers, recommending measures and strategies for managing each case based on clinical evidence. Written in a simplified and objective manner, the text is divided into two principal sections: Evaluation and Treatment. The sections both present comments on and levels of evidence represented by the references cited, as well as some proposals for the reduction of damage and for intervening in specific and still poorly explored situations, such as relapse, passive smoking, physician smoking, and tobacco use in specific environments.
Topics: Adolescent; Adult; Aged; Child; Diagnostic and Statistical Manual of Mental Disorders; Female; Hospitalization; Humans; Male; Motivation; Pregnancy; Recurrence; Severity of Illness Index; Smoking; Smoking Cessation; Tobacco Use Disorder; Young Adult
PubMed: 19009219
DOI: 10.1590/s1806-37132008001000014 -
AMIA ... Annual Symposium Proceedings.... 2021Working with scribes can reduce provider documentation time, but few studies have examined how scribes affect clinical notes. In this retrospective cross-sectional...
Working with scribes can reduce provider documentation time, but few studies have examined how scribes affect clinical notes. In this retrospective cross-sectional study, we examine over 50,000 outpatient progress notes written with and without scribe assistance by 70 providers across 27 specialties in 2017-2018. We find scribed notes were consistently longer than those written without scribe assistance, with most additional text coming from note templates. Scribed notes were also more likely to contain certain templated lists, such as the patient's medications or past medical history. However, there was significant variation in how working with scribes affected a provider's mix of typed, templated, and copied note text, suggesting providers adapt their documentation workflows to varying degrees when working with scribes. These results suggest working with scribes may contribute to note bloat, but that providers' individual documentation workflows, including their note templates, may have a large impact on scribed note contents.
Topics: Cross-Sectional Studies; Documentation; Electronic Health Records; Humans; Outpatients; Retrospective Studies
PubMed: 35309010
DOI: No ID Found -
Seminars in Oncology Nursing Apr 2023This article provides practical guidance on developing a comprehensible abstract, including those required for funding applications, conferences, and publication. In... (Review)
Review
OBJECTIVES
This article provides practical guidance on developing a comprehensible abstract, including those required for funding applications, conferences, and publication. In addition, we discuss and demonstrate the practicalities of editing and revising an abstract for conference or peer review and identify emerging formats that may be more relevant to nurses and researchers.
DATA SOURCES
This article has been informed by literature and the coauthors' respective experiences of preparing and reviewing abstracts for publication and conference presentation.
CONCLUSION
Abstracts are a valuable tool to communicate the most important elements of the methods and results of a research project for a conference, manuscript, or even a research funding application. However, abstracts may often be an overlooked part of the dissemination process. An abstract determines whether or not a piece of research is relevant for presentation at a conference or valuable enough to be considered for peer review and subsequent publication. A strong and clearly written abstract positively predisposes reviewers of grant applications.
IMPLICATIONS FOR NURSING PRACTICE
Writing an abstract is arguably the most challenging component of academic writing, summarizing the results of a substantive research project in three to five sentences and positioning them concisely within the background and implications for future practice, policy, and research. A well-written abstract is clear, concise, and critical and requires time and revision to ensure success.
Topics: Humans; Abstracting and Indexing; Writing; Peer Review; Language
PubMed: 36841679
DOI: 10.1016/j.soncn.2023.151395