Steroid hormone concentrations in dried blood spots: A comparison between capillary and venous blood samples.

Background: An important aspect of the shift towards dried blood spots (DBS) as a sample matrix for laboratory measurements, is the availability of robust liquid chromatography-tandem mass spectrometry (LC-MS/MS) methods that can reliably quantify analyte concentrations in DBS. The development and validation of these LC-MS/MS methods, however, concerns an extensive process, for which large amounts of DBS samples are required. DBS are usually obtained from capillary blood samples, but they can also be prepared from venous (residual) blood samples, which are widely available in clinical laboratories.

Neonatal reference intervals for serum steroid hormone concentrations measured by LC-MS/MS.

Objectives: Congenital adrenal hyperplasia (CAH) is a rare, inherited disorder of adrenal steroid synthesis. In many countries it is part of the neonatal screening program enabling early diagnosis and treatment. In case of an abnormal neonatal screening result or when other differences of sexual development (DSD) are suspected, measurement of serum steroid hormones using liquid chromatography coupled to mass spectrometry (LC-MS/MS) is needed for further diagnosis.

Taxonomy of introns and the evolution of minor introns.

Classification of introns, which is crucial to understanding their evolution and splicing, has historically been binary and has resulted in the naming of major and minor introns that are spliced by their namesake spliceosome. However, a broad range of intron consensus sequences exist, leading us to here reclassify introns as minor, minor-like, hybrid, major-like, major and non-canonical introns in 263 species across six eukaryotic supergroups. Through intron orthology analysis, we discovered that minor-like introns are a transitory node for intron conversion across evolution.

Stability of steroid hormones in dried blood spots (DBS).

Objectives: Steroid hormone levels of patients may be monitored via dried blood spot (DBS) sampling at home. Stability of steroid hormones in DBS samples, however, needs to be established.

Methods: DBS samples from healthy volunteers were collected and stored at various temperatures.

Introns: the "dark matter" of the eukaryotic genome.

The emergence of introns was a significant evolutionary leap that is a major distinguishing feature between prokaryotic and eukaryotic genomes. While historically introns were regarded merely as the sequences that are removed to produce spliced transcripts encoding functional products, increasingly data suggests that introns play important roles in the regulation of gene expression. Here, we use an intron-centric lens to review the role of introns in eukaryotic gene expression.

Transcription-Coupled Nucleotide Excision Repair and the Transcriptional Response to UV-Induced DNA Damage.

Ultraviolet (UV) irradiation and other genotoxic stresses induce bulky DNA lesions, which threaten genome stability and cell viability. Cells have evolved two main repair pathways to remove such lesions: global genome nucleotide excision repair (GG-NER) and transcription-coupled nucleotide excision repair (TC-NER). The modes by which these subpathways recognize DNA lesions are distinct, but they converge onto the same downstream steps for DNA repair.

The natural language processing of radiology requests and reports of chest imaging: Comparing five transformer models' multilabel classification and a proof-of-concept study.

Background: Radiology requests and reports contain valuable information about diagnostic findings and indications, and transformer-based language models are promising for more accurate text classification.

Methods: In a retrospective study, 2256 radiologist-annotated radiology requests (8 classes) and reports (10 classes) were divided into training and testing datasets (90% and 10%, respectively) and used to train 32 models. Performance metrics were compared by model type (LSTM, Bertje, RobBERT, BERT-clinical, BERT-multilingual, BERT-base), text length, data prevalence, and training strategy.

The emerging significance of splicing in vertebrate development.

Splicing is a crucial regulatory node of gene expression that has been leveraged to expand the proteome from a limited number of genes. Indeed, the vast increase in intron number that accompanied vertebrate emergence might have aided the evolution of developmental and organismal complexity. Here, we review how animal models for core spliceosome components have provided insights into the role of splicing in vertebrate development, with a specific focus on neuronal, neural crest and skeletal development.

Deep Learning-Based Natural Language Processing in Radiology: The Impact of Report Complexity, Disease Prevalence, Dataset Size, and Algorithm Type on Model Performance.

In radiology, natural language processing (NLP) allows the extraction of valuable information from radiology reports. It can be used for various downstream tasks such as quality improvement, epidemiological research, and monitoring guideline adherence. Class imbalance, variation in dataset size, variation in report complexity, and algorithm type all influence NLP performance but have not yet been systematically and interrelatedly evaluated.

Machine learning based natural language processing of radiology reports in orthopaedic trauma.

Objectives: To compare different Machine Learning (ML) Natural Language Processing (NLP) methods to classify radiology reports in orthopaedic trauma for the presence of injuries. Assessing NLP performance is a prerequisite for downstream tasks and therefore of importance from a clinical perspective (avoiding missed injuries, quality check, insight in diagnostic yield) as well as from a research perspective (identification of patient cohorts, annotation of radiographs).

Methods: Datasets of Dutch radiology reports of injured extremities (n = 2469, 33% fractures) and chest radiographs (n = 799, 20% pneumothorax) were collected in two different hospitals and labeled by radiologists and trauma surgeons for the presence or absence of injuries.

Disruption of exon-bridging interactions between the minor and major spliceosomes results in alternative splicing around minor introns.

Vertebrate genomes contain major (>99.5%) and minor (<0.5%) introns that are spliced by the major and minor spliceosomes, respectively.

Contextual Structured Reporting in Radiology: Implementation and Long-Term Evaluation in Improving the Communication of Critical Findings.

Structured reporting contributes to the completeness of radiology reports and improves quality. Both the content and the structure are essential for successful implementation of structured reporting. Contextual structured reporting is tailored to a specific scenario and can contain information retrieved from the context.

Disrupted minor intron splicing is prevalent in Mendelian disorders.

Background: Splicing is crucial for proper gene expression, and is predominately executed by the major spliceosome. Conversely, 722 introns in 699 human minor intron-containing genes (MIGs) are spliced by the minor spliceosome. Splicing of these minor introns is disrupted in diseases caused by pathogenic variants in the minor spliceosome, ultimately leading to the aberrant expression of a subset of these MIGs.

Promises of artificial intelligence in neuroradiology: a systematic technographic review.

Purpose: To conduct a systematic review of the possibilities of artificial intelligence (AI) in neuroradiology by performing an objective, systematic assessment of available applications. To analyse the potential impacts of AI applications on the work of neuroradiologists.

Methods: We identified AI applications offered on the market during the period 2017-2019.

Minor intron splicing revisited: identification of new minor intron-containing genes and tissue-dependent retention and alternative splicing of minor introns.

Background: Mutations in minor spliceosome components such as U12 snRNA (cerebellar ataxia) and U4atac snRNA (microcephalic osteodysplastic primordial dwarfism type 1 (MOPD1)) result in tissue-specific symptoms. Given that the minor spliceosome is ubiquitously expressed, we hypothesized that these restricted phenotypes might be caused by the tissue-specific regulation of the minor spliceosome targets, i.e.

Minor spliceosome inactivation causes microcephaly, owing to cell cycle defects and death of self-amplifying radial glial cells.

Mutation in minor spliceosome components is linked to the developmental disorder microcephalic osteodysplastic primordial dwarfism type 1 (MOPD1). Here, we inactivated the minor spliceosome in the developing mouse cortex (pallium) by ablating , which encodes the crucial minor spliceosome small nuclear RNA (snRNA) U11. conditional knockout mice were born with microcephaly, which was caused by the death of self-amplifying radial glial cells (RGCs), while intermediate progenitor cells and neurons were produced.

Improvement of radiology reporting in a clinical cancer network: impact of an optimised multidisciplinary workflow.

Purpose: To assess the effectiveness of implementing a quality improvement project in a clinical cancer network directed at the response assessment of oncology patients according to RECIST-criteria.

Methods: Requests and reports of computed tomography (CT) studies from before (n = 103) and after (n = 112) implementation of interventions were compared. The interventions consisted of: a multidisciplinary working agreement with a clearly described workflow; subspecialisation of radiologists; adaptation of the Picture Archiving and Communication System (PACS); structured reporting.

Perception of radiology reporting efficacy by neurologists in general and university hospitals.

Aim: To investigate how neurologists perceive the value of the radiology report and to analyse the relation with the neurologists own expertise in radiology and the level of subspecialisation of radiologists.

Materials And Methods: A web-based survey was distributed to neurologists. The level of subspecialisation was assessed by the percentage of fellowship-trained radiologists and the percentage of radiologists that were members of the Dutch Society of Neuroradiology.

Network-based bioinformatics analysis of spatio-temporal RNA-Seq data reveals transcriptional programs underpinning normal and aberrant retinal development.

Background: The retina as a model system with extensive information on genes involved in development/maintenance is of great value for investigations employing deep sequencing to capture transcriptome change over time. This in turn could enable us to find patterns in gene expression across time to reveal transition in biological processes.

Methods: We developed a bioinformatics pipeline to categorize genes based on their differential expression and their alternative splicing status across time by binning genes based on their transcriptional kinetics.

Implementation and Validation of PACS Integrated Peer Review for Discrepancy Recording of Radiology Reporting.

The purpose of this work is to demonstrate the possibility of implementation of a PACS-integrated peer review system based on RADPEER™ classification providing a step-wise implementation plan utilizing features already present in the standard PACS implementation and without the requirement of additional software development. Furthermore, we show the usage and effects of the system during the first 30 months of usage. To allow fast and easy implementation into the daily workflow the key-word feature of the PACS was used.

Non-invasive liver iron concentration measurement by MRI: comparison of two validated protocols.

In the non-invasive determination of the liver iron concentration several validated MRI methods are available, two of which are compared in this study. Twenty-eight patients were examined by MRI and evaluated by the methods of Kreeftenberg et al. [Kreeftenberg Jr HG, Mooyaart EL, Huizenga JR, Sluiter WJ, Kreeftenberg Sr HG.

Pigeons (Columba livia) associate time intervals with symbols in a touch screen task: evidence for ordinality but not summation.

The present experiments examined whether pigeons can sum symbols that are associated with various temporal consequences in a touch screen apparatus. Pigeons were trained to discriminate between two visual symbols that were associated with 0, 1, 2, 3, 4, or 5 s either of delay to 4 s of hopper access (delay group) or duration of hopper access (reward group). In Experiment 1, the pigeons in both groups learned to select the symbol associated with the more favorable outcome, and they successfully transferred this discrimination to novel symbol pairs.

Correlation between serum ferritin levels and liver iron concentration determined by MR imaging: impact of hematologic disease and inflammation.

Liver iron concentration was determined in 28 patients by magnetic resonance imaging using the method of Gandon et al. (Non-invasive assessment of hepatic iron stores by MRI. Lancet 2004;363:357-362).