Diagnostic error

BACKGROUND AND OBJECTIVES: Biochemical testing of CSF for neurotransmitter metabolites and their cofactors is often used in the diagnostic evaluation of infants with neurologic disorders but requires an invasive, labor-intensive procedure with many potential sources of error. Our aim was to determine the diagnostic yield of CSF testing for biogenic amines (serotonin, norepinephrine, epinephrine, and dopamine) and their cofactors in identifying inborn errors of neurotransmitter metabolism among infants...

OBJECTIVE: Using data from 5 academic-practice sites across the United States, researchers developed and validated a scale to measure conditions that enable healthcare innovations. BACKGROUND: Academic-practice partnerships are a catalyst for innovation and healthcare development. However, limited theoretically grounded evidence exists to provide strategic direction for healthcare innovation across practice and academia. METHODS: Phase 1 of the analytical strategy involved scale development using 16 subject matter experts...

PURPOSE: Inborn errors of immunity (IEI) are a heterogeneous group of diseases with variable clinical phenotypes. This study was conducted to describe the epidemiology, clinical presentations, treatment, and outcome of IEI in Jordanian children. METHODS: A retrospective data analysis was conducted for children under 15 years diagnosed with IEI from the pediatric Allergy, Immunology, and Rheumatology Division-based registry at Queen Rania Children's Hospital, Amman, Jordan, between 2010 and 2022...

Introduction In recent years, artificial intelligence (AI) in medical imaging has undergone unprecedented innovation and advancement, sparking a revolutionary transformation in healthcare. The field of radiology is particularly implicated, as clinical radiologists are expected to interpret an ever-increasing number of complex cases in record time. Machine learning software purchased by our institution is expected to help our radiologists come to a more prompt diagnosis by delivering point-of-care quantitative analysis of suspicious findings and streamlining clinical workflow...

Sulfite intoxication is the hallmark of four ultrarare disorders that are caused by impaired sulfite oxidase activity due to genetic defects in the synthesis of the molybdenum cofactor or of the apoenzyme sulfite oxidase. Delays on the diagnosis of these disorders are common and have been caused by their unspecific presentation of acute neonatal encephalopathy with high early mortality, followed by the evolution of dystonic cerebral palsy and also by the lack of easily available and reliable diagnostic tests...

OBJECTIVES: Large language models (LLMs) have shown potential in radiology, but their ability to aid radiologists in interpreting imaging studies remains unexplored. We investigated the effects of a state-of-the-art LLM (GPT-4) on the radiologists' diagnostic workflow. MATERIALS AND METHODS: In this retrospective study, six radiologists of different experience levels read 40 selected radiographic [n = 10], CT [n = 10], MRI [n = 10], and angiographic [n = 10] studies unassisted (session one) and assisted by GPT-4 (session two)...

PURPOSE: Management reasoning is a distinct subset of clinical reasoning. We sought to explore features to be considered when designing assessments of management reasoning. METHODS: This is a hybrid empirical research study, narrative review, and expert perspective. In 2021, we reviewed and discussed 10 videos of simulated (staged) physician-patient encounters, actively seeking actions that offered insights into assessment of management reasoning. We analyzed our own observations in conjunction with literature on clinical reasoning assessment, using a constant comparative qualitative approach...

OBJECTIVE: Machine learning (ML) is increasingly employed to diagnose medical conditions, with algorithms trained to assign a single label using a black-box approach. We created an ML approach using deep learning that generates outcomes that are transparent and in line with clinical, diagnostic rules. We demonstrate our approach for autism spectrum disorders (ASD), a neurodevelopmental condition with increasing prevalence. METHODS: We use unstructured data from the Centers for Disease Control and Prevention (CDC) surveillance records labeled by a CDC-trained clinician with ASD A1-3 and B1-4 criterion labels per sentence and with ASD cases labels per record using Diagnostic and Statistical Manual of Mental Disorders (DSM5) rules...

BACKGROUND: Understanding the factors that contribute to diagnostic errors is critical if we are to correct or prevent them. Some scholars influenced by the default interventionist dual-process theory of cognition (dual-process theory) emphasise a narrow focus on individual clinician's faulty reasoning as a significant contributor. In this paper, we examine the validity of claims that dual process theory is a key to error reduction. METHODS: We examined the relationship between a clinical experience (staff and resident physicians) and viewing time on accuracy for categorising chest X-rays (CXRs) and electrocardiograms (ECGs)...

Lupus anticoagulant (LA) represents 1 of the laboratory criteria for classification of patients as having definite antiphospholipid syndrome (APS). The other 2 laboratory criteria are anticardiolipin antibodies and anti-beta2-glycoprotein I antibodies. At least 1 of these antiphospholipid antibody (aPL) tests need to be positive, with evidence of persistence, together with evidence of at least 1 clinical criterion for APS, before a patient can be classified as having definite APS. LA and other aPL assays are also important for diagnosis or exclusion of APS, as well as for risk stratification, with triple-positive patients carrying the greatest risk...

PURPOSE: To compare agreement of corneal epithelium thickness (ET) between AS-OCT system (RTVue, Optovue, Fremont, USA) and AS-OCT/Placido topographer (MS-39, CSO, Florence, Italy) in different stages keratoconus (KC) eyes, and to assess the repeatability of RTVue AS-OCT. DESIGN: Prospective reliability analysis. METHODS: KC eyes were classified into forme fruste KC (FFKC), mild, moderate and severe KC. Agreement was evaluated with Bland-Altman plots and 95% limits of agreement (LoA)...

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AIM: Hypertension and diabetes mellitus (DM) are major causes of morbidity and mortality, with growing burdens in low-income countries where they are underdiagnosed and undertreated. Advances in machine learning may provide opportunities to enhance diagnostics in settings with limited medical infrastructure. MATERIALS AND METHODS: A non-interventional study was conducted to develop and validate a machine learning algorithm to estimate cardiovascular clinical and laboratory parameters...

INTRODUCTION: The danger of diagnostic errors exists in daily medical practice, and doctors are required to avoid such errors as much as possible. Although various factors, including cognitive, system-related, and patient-related factors, are involved in the occurrence of diagnostic errors, the percentage of doctors with insufficient medical knowledge among those factors is extremely low. Therefore, lectures on diagnostic errors might also be useful for medical students without experience working as doctors...

Water management and early detection of faults in proton exchange membrane fuel cells (PEMFCs) are among the most critical constraints that limit the optimal spread of this type of energy. Consequently, it is necessary to enhance the reliability and durability of PEMFCs by developing an approach to diagnose and identify water failure modes. This paper proposes an effective and simple method to detect, diagnose, and classify various water failure modes in PEMFCs using a hybrid diagnostic approach. This approach combines the PEMFC fractional order impedance model (FOIM) with fast Fourier transform pulse width modulation (FFT-PWM) techniques and artificial neural network pattern recognition (ANN-PR) classification...

OBJECTIVE: To identify the patient reported outcome measures (PROMs) used in clinical trials assessing interventions for chronic pain, describe their psychometric properties and the clinical domains they cover. STUDY DESIGN AND SETTING: We identified phase 3 or 4 interventional trials on adult participants (age >18) registered in clinicaltrials.gov between January 1, 2021 to December 31, 2022 and which provided "chronic pain" as a keyword condition. We excluded diagnostic studies and phase 1 or 2 trials...

OBJECTIVE: Cervical conization is an effective treatment for precancerous lesions. However, in cases where no high-grade lesion is identified in the surgical specimen, managing these patients may be challenging due to the absence of established follow-up protocols for negative conizations. This study aimed to assess the negative conization rates at our institution by histopathological review, identify diagnostic errors, possible risk and recurrence factors and propose follow-up strategies for this group of patients...

In forensic medicine, myocarditis is a complicated topic in the context of sudden death and medical malpractice. A good knowledge of the etiopathology, histopathology, and available literature are both indispensable and essential for the correct management and evaluation of the causal link. Some agents, which are rarely lethal for humans, are not necessarily related to death from myocarditis, even if an infection in other organs such as the gastrointestinal tract is documented. The diagnosis of the causes of death is often difficult and confusing...

PURPOSE: Low doses of systemic doxycycline (LD-SD) inhibit angiogenesis and the expression of matrix metalloproteases, which are determinants of pterygium progression. This study aimed to compare the recurrence rate and visual outcome of pterygium excision in patients undergoing chronic treatment with LD-SD for chronic refractory blepharitis and LD-SD-naive patients. METHODS: A retrospective analysis of patients that underwent surgical excision and conjunctival graft apposition was conducted...

(1) Background: Standard semen analysis methods may exhibit variability between observers and/or human error; therefore, additional methods are needed to overcome these handicaps. We aimed to present a new smartphone-applied semen analyzer, Sperm Cell™, investigate its diagnostic efficacy by comparing it with the standard analysis method, and determine its user-friendly nature. (2) Methods: A cross-sectional study was conducted on a large sample cohort, including 102 men. Three semen analyses were performed for each semen sample...