Diagnostic errors

PURPOSE: To assess the within-participant reliability and measurement error in the determination of MTR in the healthy human cervical spinal cord. METHODS AND MATERIALS: A total of twenty healthy controls (10 male, mean ± sd age: 33.9 ± 3.5 years, 10 females, mean ± sd age: 47.5 ± 14.4 years), with no family history of any neurological disorders or a contraindication to MRI scanning were recruited over a period of two months...

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BACKGROUND: We evaluated the diagnostic ability of macula retinal nerve fiber layer (mRNFL) thickness in preperimetric glaucoma (PPG) patients. METHODS: This prospective study included 83 patients with PPG and 83 age- and refractive error-matched normal control subjects. PPG was defined as a localized RNFL defect corresponding to glaucomatous optic disc changes with a normal visual field test. We used spectral-domain (SD) OCT to measure the circumpapillary RNFL (cpRNFL) thickness and macular ganglion cell-inner plexiform layer (GCIPL) thickness...

X-linked inhibitor of apoptosis (XIAP) deficiency is an infrequent inborn error of immunity caused by mutations in XIAP gene. Most cases present with absence of XIAP protein which can be detected by flow cytometry (FC), representing a rapid diagnostic method. However, since some genetic defects may not preclude protein expression, it is important to include a complementary functional test in the laboratory workup of these patients. L-selectin (CD62-L) is a molecule that is cleaved from the surface membrane of leukocytes upon stimulation of different receptors such as toll like receptors (TLRs) and nucleotide-binding oligomerization domain-like receptors (NLRs), including NOD2...

BACKGROUND: The rapid adoption of artificial intelligence (AI) models in the medical field is due to their ability to collaborate with clinicians in the diagnosis and management of a wide range of conditions. This research assesses the diagnostic accuracy and therapeutic strategies of Chat Generative Pre-trained Transformer (ChatGPT) in comparison to dental professionals across 12 clinical cases. METHODOLOGY: ChatGPT 3.5 was queried for diagnoses and management plans for 12 retrospective cases...

Black pleural effusions (BPEs) are an exceedingly rare class of exudative effusions of unexplored causality. Their characteristic pitch-black coloring and striking first appearance upon thoracocentesis make them a bewildering occurrence even for seasoned physicians. Forming a free-from-error diagnostic work-up can be arduous and largely depends on thorough history-taking, deliberate imaging studies, and the correct biochemical profile. The upcoming article aims to raise awareness of this pathology by presenting our experience with a BPE after an episode of acute-on-chronic (ACP) pancreatitis and the confounding route to achieving the correct diagnosis and forming the precise therapeutic approach to this scenario...

Lymphoproliferation is defined by lymphadenopathy, splenomegaly, hepatomegaly, or lymphocytic organ and tissue infiltration. The most common etiologies of lymphoproliferation are represented by infectious diseases and lymphoid malignancies. However, it is increasingly recognized that lymphoproliferative features can be the presenting sign of rare conditions, including inborn errors of immunity (IEI) and inborn errors of metabolism (IEM). Among IEI, lymphoproliferation is frequently observed in autoimmune lymphoproliferative syndrome (ALPS) and related disorders, common variable immunodeficiency (CVID), activated phosphoinositide 3-kinase δ syndrome, and Epstein-Barr virus (EBV)-related disorders...

BACKGROUND: Accurately fitting diffusion-time-dependent diffusion MRI (td -dMRI) models poses challenges due to complex and nonlinear formulas, signal noise, and limited clinical data acquisition. PURPOSE: Introduce a Bayesian methodology to refine microstructural fitting within the IMPULSED (Imaging Microstructural Parameters Using Limited Spectrally Edited Diffusion) model and optimize the prior distribution within the Bayesian framework. STUDY TYPE: Retrospective...

Activated phosphoinositide 3-kinase (PI3Kδ) Syndrome (APDS) is an inborn error of immunity (IEI) with a variable clinical presentation, characterized by infection susceptibility and immune dysregulation that may overlaps with other Primary Immune Regulatory Disorders (PIRDs). The rarity of the disease, its recent discovery, and the multiform /multifaced clinical presentation make it difficult to establish a correct diagnosis, especially at an early stage. As a result, the true prevalence of the pathology remains unknown...

A prospective multicenter study was carried out between 2017 and 2021 to assess (1) the appropriateness of the empirical treatment to the local guidelines of urinary source E. coli bacteremia, (2) the appropriateness of empirical treatment to antibiotic sensitivity results, and (3) the degree of error in the local guidelines regarding the antibiotic sensitivity reported in acute care hospitals enrolled in the VINCat program. During the study period, 79.0% of the empirical treatments analyzed complied with the guidelines and 88...

Gaucher disease (GD) stands as one of the most prevalent lysosomal disorders, yet neuronopathic GD (nGD) is an uncommon subset characterized by a wide array of clinical manifestations that complicate diagnosis, particularly when neurological symptoms are understated. nGD may manifest as the acute neuronopathic type, or GD type 2 (GD2), either prenatally or within the first weeks to months of life, whereas GD type 3 (GD3) symptoms may emerge at any point during childhood or occasionally in adolescence. The clinical presentation encompasses severe systemic involvement to mild visceral disease, often coupled with a spectrum of progressive neurological signs and symptoms such as cognitive impairment, ataxia, seizures, myoclonus, varying degrees of brainstem dysfunction presenting with stridor, apneic episodes, and/or impaired swallowing...

Background Scuba diving was previously excluded because of hypoglycemic risks for type 1 diabetic patients (T1DM). Specific eligibility criteria and a safety protocol have been defined, while continuous glucose monitoring (CGM) systems have enhanced diabetes management. This study aims to assess the feasibility and accuracy of CGM Dexcom G7 (DG7) and Free Style Libre 3 (FSL3) in a setting of repetitive scuba diving in T1DM, exploring the possibility of non-adjunctive use. Material and methods The study was conducted during an event of Diabete Sommerso® association in November 2023...

Circulating miRNA has recently emerged as important biomolecules with potential clinical values as diagnostic markers for several diseases. However, to be used as such, it is critical to accurately quantify miRNAs in the clinic. Yet, preanalytical factors that can affect an error-free quantification of these miRNAs have not been explored. This study aimed at investigating several of these preanalytical factors that may affect the accurate quantification of miRNA-451a, miRNA-423-5p and miRNA-199a-3p in human blood samples...

PURPOSE: To explore the clinicopathological characteristics of immunoglobulin G4 (IgG4)-positive ocular adnexal marginal zone B-cell lymphoma (OAML) and associated patient treatment outcomes. METHODS: Medical records from patients diagnosed with IgG4-positive OAML treated at the West China Hospital between January 2016 and August 2023 were retrospectively analyzed. RESULTS: This study included data from 22 patients (11 males, 11 females), aged between 36 and 83 years, with disease durations from 1 month to 30 years...

BACKGROUND: The advance of digital health technologies has created new forms of potential pathology which are not captured in current clinical guidelines. Through simulation-based research, we have identified the challenges to clinical care that emerge when patients suffer from illnesses stemming from failures in digital health technologies. METHODS: Clinical simulation sessions were designed based on patient case reports relating to (a) medical device hardware errors, (b) medical device software errors, (c) complications of consumer technology and (d) technology-facilitated abuse...

UNLABELLED: The BACTEC Mycobacteria Growth Indicator Tube (MGIT) machine is the standard globally for detecting viable mycobacteria in patients' sputum. Samples are observed for no longer than 42 days, at which point the sample is declared "negative" for tuberculosis (TB). This time to detection of bacterial growth, referred to as time-to-positivity (TTP), is increasingly of interest not solely as a diagnostic tool, but as a continuous biomarker wherein change in TTP over time can be used for comparing the bactericidal activity of different TB treatments...

The severity of the critically ill patient, the practice of diagnostic procedures and invasive treatments, the high number of drugs administered, a high volume of data generated during the care of the critically ill patient along with a technical work environment, the stress and workload of work of professionals, are circumstances that favor the appearance of errors, turning Intensive Medicine Services into risk areas for adverse events to occur. Knowing their epidemiology is the first step to improve the safety of the care we provide to our patients, because it allows us to identify risk areas, analyze them and develop strategies to prevent the adverse events, or if this is not possible, be able to manage them...

BACKGROUND: An estimated 12 million adults in the United States experience delayed diagnoses and other diagnostic errors annually. Ambulatory safety nets (ASNs) are an intervention to reduce delayed diagnoses by identifying patients with abnormal results overdue for follow-up using registries, workflow redesign, and patient navigation. The authors sought to co-design a collaborative and implement colorectal cancer (CRC) ASNs across various health care settings. METHODS: A working group was convened to co-design implementation guidance, measures, and the collaborative model...

INTRODUCTION: The Balance Error Scoring System (BESS) assesses the ability to control postural stability by performing 3 different stances on two-type surfaces during closed eyes. Virtual reality technology combined with the BESS test (VR-BESS) may be used to disrupt visual inputs instead of closing the eyes, which may improve the sensitivity of diagnosing patients with chronic ankle instability (CAI). OBJECTIVE: This study aimed to evaluate the accuracy to identify individuals with CAI of the VR-BESS test comparing with the original BESS test...

Verrucous carcinoma (VC) is a rare, low-grade variant of well-differentiated squamous cell carcinoma. Plantar verrucous carcinoma presents as a slow-growing, exophytic, verrucous plaque on weight bearing areas of the foot. Verrucous carcinomas have low metastatic potential, but are high risk for local invasion. We describe a patient with a 20-year history of a slowly growing, ulcerated, verrucous plaque on the sole of the left foot that was erroneously treated for years as verruca plantaris and was eventually diagnosed as invasive verrucous carcinoma...