Diagnostic error

Bone marrow metastases-noted in 6% of patients with rhabdomyosarcoma-have been linked to very poor outcomes. Bilateral bone marrow sampling from iliac crests has been the gold standard for bone marrow examination in rhabdomyosarcoma, but sampling errors due to patchy bone marrow involvement may limit its sensitivity. Here, we report the case of a 6-year-old boy with embryonal rhabdomyosarcoma of the skull base and multiple 2-[18 F]fluoro-2-deoxy-D-glucose (2-[18 F]FDG)-avid bone marrow metastases visualized by positron emission tomography and computed tomography (2-[18 F]FDG PET/CT)...

INTRODUCTION: Despite high prevalence of anxiety among pregnant women in low- and -middle-income countries, research on context-specific conceptualisation, measurement, and predictors of pregnancy-related anxiety (PrA) is limited in these contexts. We explored local conceptualisations of factors influencing PrA in the Northern Region of Ghana. METHODS: We conducted 15 focus group discussions with antenatal care seekers in the Mion District, Savelugu Municipality, and Tamale Metropolis of the Northern Region, in July and August 2021...

A wireless capsule endoscope (WCE) is a medical device designed for the examination of the human gastrointestinal (GI) tract. Three-dimensional models based on WCE images can assist in diagnostics by effectively detecting pathology. These 3D models provide gastroenterologists with improved visualization, particularly in areas of specific interest. However, the constraints of WCE, such as lack of controllability, and requiring expensive equipment for operation, which is often unavailable, pose significant challenges when it comes to conducting comprehensive experiments aimed at evaluating the quality of 3D reconstruction from WCE images...

Intracranial hemorrhage (ICH) resulting from traumatic brain injury is a serious issue, often leading to death or long-term disability if not promptly diagnosed. Currently, doctors primarily use Computerized Tomography (CT) scans to detect and precisely locate a hemorrhage, typically interpreted by radiologists. However, this diagnostic process heavily relies on the expertise of medical professionals. To address potential errors, computer-aided diagnosis systems have been developed. In this study, we propose a new method that enhances the localization and segmentation of ICH lesions in CT scans by using multiple images created through different data augmentation techniques...

Following the publication of this article, an interested reader drew to the authors' attention that the western blots in Fig. 4B on p. 3560 and Fig. 6B on p. 3562 shared remarkably similar data (including both the GAPDH and the FAM172A blots in Fig. 4B), such that these data were likely to have been derived from the same original source. Upon asking the authors to provide an explanation, the authors realized that these errors inadvertently arose during the process of assembling these figures. Due to a mislabelling of the files, representative blots for FAM172A and GAPDH were chosen incorrectly for Fig...

Delayed cerebral ischemia (DCI) occurs in up to one third of patients suffering from aneurysmal subarachnoid hemorrhage (aSAH). Untreated, it leads to secondary cerebral infarctions and is frequently associated with death or severe disability. After aneurysm rupture, erythrocytes in the subarachnoid space lyse and liberate free hemoglobin (Hb), a key driver for the development of DCI. Hemoglobin in the cerebrospinal fluid (CSF-Hb) can be analyzed through a two-step procedure of centrifugation to exclude intact erythrocytes and subsequent spectrophotometric quantification...

Worldwide, breast cancer (BC) is one of the most commonly diagnosed malignancies in women. Early detection is key to improving survival rates and health outcomes. This literature review focuses on how artificial intelligence (AI), especially deep learning (DL), can enhance the ability of mammography, a key tool in BC detection, to yield more accurate results. Artificial intelligence has shown promise in reducing diagnostic errors and increasing early cancer detection chances. Nevertheless, significant challenges exist, including the requirement for large amounts of high-quality data and concerns over data privacy...

OBJECTIVES: The worldwide shortage of intravenous (IV) Omnipaque iodinated contrast (Iohexol, GE Healthcare; Milwaukee, WI, USA) forced institutions to adopt various policies regarding contrast allocation. We sought to evaluate the impact of our hospital's response to the shortage, which was to decrease the dose of IV contrast from 100 mL to 75 mL for patients weighing between 45.4 and 136 kg (100-300 lbs) undergoing abdominal computed tomography (CT) examinations. The main objective was to assess for any differences in liver attenuation and enhancement between contrast dosages...

Gyrate atrophy of the choroid and retina (GACR) is a rare autosomal recessive disease characterised by elevated plasma ornithine levels due to deficiency of the enzyme ornithine aminotransferase (OAT). The accumulation of this amino acid in plasma leads to the development of patches of chorioretinal atrophy in the peripheral retina extending into the macular area. Patients usually present with night blindness followed by constriction of the visual field and, finally, decreased central vision and blindness. The disease is diagnosed by the presence of the characteristic clinical picture, the presence of hyperornithinaemia in plasma and the detection of mutations in the OAT enzyme gene...

Due to the high expenses involved, 4D-CT data for certain patients may only include five respiratory phases (0%, 20%, 40%, 60%, and 80%). This limitation can affect the subsequent planning of radiotherapy due to the absence of lung tumor information for the remaining five respiratory phases (10%, 30%, 50%, 70%, and 90%). This study aims to develop an interpolation method that can automatically derive tumor boundary contours for the five omitted phases using the available 5-phase 4D-CT data. The dynamic mode decomposition (DMD) method is a data-driven and model-free technique that can extract dynamic information from high-dimensional data...

AIMS/HYPOTHESIS: Our aim was to characterise the in-depth metabolic response to aerobic exercise and the impact of residual pancreatic beta cell function in type 1 diabetes. We also aimed to use the metabolome to distinguish individuals with type 1 diabetes with reduced maximal aerobic capacity in exercise defined by <mml:math xmlns:mml="https://www.w3.org/1998/Math/MathML"> <mml:mrow><mml:mover><mml:mi>V</mml:mi> <mml:mo>˙</mml:mo></mml:mover> <mml:msub><mml:mtext>O</mml:mtext> <mml:mtext>2peak</mml:mtext></mml:msub> </mml:mrow> </mml:math> ...

Pelvic malalignment leads to general imbalance and adversely affects leg length. Timely and accurate diagnosis of pelvic alignment in patients is crucial to prevent additional complications arising from delayed treatment. Currently, doctors typically assess pelvic alignment either manually or through radiography. This study aimed to develop and assess the validity of a deep learning-based system for automatically measuring 10 radiographic parameters necessary for diagnosing pelvic displacement using standing anteroposterior pelvic X-rays...

New technologies in genetic diagnostics have revolutionized the understanding and management of rare diseases. This review highlights the significant advances and latest developments in genetic diagnostics in inborn errors of immunity (IEI), which encompass a diverse group of disorders characterized by defects in the immune system, leading to increased susceptibility to infections, autoimmunity, autoinflammatory diseases, allergies, and malignancies. Various diagnostic approaches, including targeted gene sequencing panels, whole exome sequencing, whole genome sequencing, RNA sequencing, or proteomics, have enabled the identification of causative genetic variants of rare diseases...

Interdisciplinary fetal neonatal neurology (FNN) training requires integration of reproductive health factors into evaluations of the maternal-placental-fetal (MPF) triad, neonate, and child over the first 1000 days. Serial events that occur before one or multiple pregnancies impact successive generations. A maternal-child dyad history highlights this continuity of health risk, beginning with a maternal grandmother's pregnancy. Her daughter was born preterm and later experienced polycystic ovarian syndrome further complicated by cognitive and mental health disorders...

BACKGROUND Cytosolic phosphoenolpyruvate carboxykinase (PEPCK-C) deficiency is an extremely rare autosomal recessive inherited error of metabolism in which gluconeogenesis is impaired, resulting in life-threatening episodes of hypoglycemia and metabolic acidosis. The diagnosis of gluconeogenesis disorders is challenging. In the diagnostic pathway, the molecular test plays a paramount role. CASE REPORT The aim of the paper is to present the case report of a girl with recurrent episodes of severe hypoglycemia, in whom molecular diagnosis enabled the confirmation of PEPCK - C deficiency...

BACKGROUND: There is an unmet need for prediction of treatment outcome or patient selection for [177 Lu]Lu-PSMA therapy in patients with metastatic castration-resistant prostate cancer (mCRPC). Quantification of the tumor exposure-response relationship is pivotal for further treatment optimization. Therefore, a population pharmacokinetic (PK) model was developed for [177 Lu]Lu-PSMA-I&T using SPECT/CT data and, subsequently, related to prostate-specific antigen (PSA) dynamics after therapy in patients with mCRPC using a pharmacokinetic/pharmacodynamic (PKPD) modelling approach...

PURPOSE: Diffusion tensor imaging (DTI) is a magnetic resonance imaging technique that provides unique information about white matter microstructure in the brain but is susceptible to confounding effects introduced by scanner or acquisition differences. ComBat is a leading approach for addressing these site biases. However, despite its frequent use for harmonization, ComBat's robustness toward site dissimilarities and overall cohort size have not yet been evaluated in terms of DTI. APPROACH: As a baseline, we match <mml:math xmlns:mml="https://www...

INTRODUCTION: Acute febrile illnesses (AFI) in developing tropical and sub-tropical nations are challenging to diagnose due to the numerous causes and non-specific symptoms. The proliferation of rapid diagnostic testing and successful control campaigns against malaria have revealed that non- Plasmodium pathogens still contribute significantly to AFI burden. Thus, a more complete understanding of local trends and potential causes is important for selecting the correct treatment course, which in turn will reduce morbidity and mortality...

Introduction: Atrial fibrillation (AF) is the most common cardiac arrhythmia, which is clinically identified with irregular and rapid heartbeat rhythm. AF puts a patient at risk of forming blood clots, which can eventually lead to heart failure, stroke, or even sudden death. Electrocardiography (ECG), which involves acquiring bioelectrical signals from the body surface to reflect heart activity, is a standard procedure for detecting AF. However, the occurrence of AF is often intermittent, costing a significant amount of time and effort from medical doctors to identify AF episodes...

BACKGROUND: Cranial autonomic symptoms (CASs) include lacrimation, conjunctival injection, rhinorrhea, nasal congestion, facial flushing or sweating, ptosis, and myosis. These symptoms may be associated with trigeminal autonomic cephalalgias (TACs) and migraine. OBJECTIVES: The aim of the study was to assess whether CASs are also reported by patients with frequent episodic tension-type headache (eTTH). MATERIAL AND METHODS: A cross-sectional online survey of a large Polish population was conducted between August 2021 and June 2022...