Systematic analysis of diagnostic errors in patients with myocardial infarction handled by the Swedish Health and Social Care Inspectorate Diagnostic errors in 51 patients with myocardial infarction handled by the Swedish Health and Social Care Inspectorate were analyzed. In more than half of the cases, the diagnostic errors occurred in health-care outside of hospitals. Diagnostic errors were more common when patients presented atypical symptoms, but atypical symptoms were equally common in male and female patients. Insufficient initial investigation, including lack of ECG registration, preceded a majority of the diagnostic errors. Wider indications for ECG and measurement of troponins in combination with increased awareness of atypical symptoms could possibly be remedies.
Download full-text PDF |
Source |
---|
Am J Hum Genet
January 2025
Institute of Medical Genetics and Applied Genomics, University of Tübingen, 72076 Tübingen, Germany; Center for Rare Disease, University of Tübingen, 72076 Tübingen, Germany; Genomics for Health in Africa (GHA), Africa-Europe Cluster of Research Excellence (CoRE).
Inborn errors of selenoprotein expression arise from deleterious variants in genes encoding selenoproteins or selenoprotein biosynthetic factors, some of which are associated with neurodegenerative disorders. This study shows that bi-allelic selenocysteine tRNA-specific eukaryotic elongation factor (EEFSEC) variants cause selenoprotein deficiency, leading to progressive neurodegeneration. EEFSEC deficiency, an autosomal recessive disorder, manifests with global developmental delay, progressive spasticity, ataxia, and seizures.
View Article and Find Full Text PDFJ Forensic Odontostomatol
December 2024
Laboratory of Personal Identification and Forensic Morphology, Department of Health Sciences, University of Florence, Florence, Italy.
The age estimation of skeletal remains still represents a central issue not only for the reconstruction of the so-called "biological profile," but mostly for the palaeodemographic investigation. This research aims at verifying the feasibility of the adult age estimation method developed on living people by Pinchi et al. (2015 and 2018), for estimating the age at the death of 37 subjects from ancient populations found in two different Italian necropolis of archaeological interest (Mont'e Prama and Florence, X-IX century B.
View Article and Find Full Text PDFBackground: Subjective cognitive decline (SCD), or self-perceived declines in memory/cognition in cognitively healthy older adults is linked to increased cognitive decline, neurodegeneration, and white matter hyperintensity (WMH) burden. However, there is no consistent definition of how to classify people with SCD. This study investigated if individual questions in the Cognitive Change Index (CCI) and Everyday Cognition Scale (ECog), commonly used to classify SCD, are associated with brain volume and WMHs to the same degree.
View Article and Find Full Text PDFBackground: Early detection is crucial for alleviating Alzheimer's disease (AD) burden. At present, assessment for early detection of AD is time-consuming, costly, and often invasive. In recent years, various eye-tracking methodologies have emerged, and they show promising results in detecting persons at risk of developing AD dementia (ADD).
View Article and Find Full Text PDFAlzheimers Dement
December 2024
Lille Neuroscience & Cognition, Inserm, Univ. Lille, CHU Lille, LiCEND & DistALZ, Lille, France.
Background: Over the past years, social cognition has been envisaged as a promising domain to distinguish behavioral variant frontotemporal degeneration (bvFTD) from its main differential diagnoses that is primary psychiatric disorders (PPD). The core-processes approach, which has emphasized the importance of emotion recognition and mentalizing, has been particularly useful to better characterize each condition and enhance the earliness of FTD's diagnosis. However, new findings evidencing conflicting results regarding the ability of social cognition to distinguish bvFTD from PPD have underlined the importance of moving beyond the core processes approach.
View Article and Find Full Text PDFEnter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!