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Ewing sarcoma (ES) is an uncommon mesenchymal neoplasm that typically develops as a bone mass, although up to 30% arise in extraskeletal sites. ES of the gastrointestinal (GI) and hepatobiliary tract is rare and may be misdiagnosed as other, more common neoplasms that occur in these sites. However, the correct classification of extraskeletal ES is important for timely clinical management and prognostication. We reviewed our experience of ES in the GI and hepatobiliary tract in order to further highlight the clinicopathologic features of these neoplasms and document the potential for misdiagnosis in this setting. The archives and consultation files of 6 academic institutions were retrospectively queried for cases of ES occurring in the GI and hepatobiliary tract. The histologic slides and ancillary studies were reviewed and clinical data were retrieved for each case through the electronic medical records, when available. Twenty-three patients with ES in the GI and/or hepatobiliary tract were identified from 2000 to 2022. Of these, 11 were women and 12 were men with a median age of 38 years (range, 2 to 64). Tumor locations included the pancreas (n=5), liver (n=2), stomach (n=3), colorectum (n=3), and small intestine (n=5), as well as tumors involving multiple organs, pelvis and retroperitoneum (n=5). Tumor size varied between 2 cm and 18 cm. Twenty were primary and 3 were metastases. Of the 23 cases, only 17% were initially diagnosed as ES. The most common misdiagnoses involved various forms of neuroendocrine neoplasia due to expression of synaptophysin and other neuroendocrine markers (22%). A wide variety of diagnoses including GI stromal tumor was considered due to aberrant CD117 expression (4%). The diagnosis of ES was ultimately confirmed by detection of the EWSR1 rearrangement in 22 cases. The remaining case was diagnosed using traditional immunohistochemistry. Follow-up information was available in 20 cases, with follow-up time varying between 2 and 256 months. Six patients with follow-up died of disease between 6 and 60 months following initial presentation. Our data indicate ES in the GI and hepatobiliary tract is commonly misdiagnosed leading to a delay in therapy. In light of the attendant therapeutic and prognostic implications, ES should be considered in the differential diagnosis of any GI or hepatobiliary tumor with epithelioid and/or small round cell morphology.

ObjectiveDespite the many advancements made in patient safety over the past decade, combating diagnostic errors (DEs) remains a crucial, yet understudied initiative toward improvement. This study sought to understand the perception of dental patients who have experienced a dental diagnostic failure (DDF) and to identify patient-centered strategies to help reduce future occurrences of DDF.MethodsThrough social media recruitment, we conducted a screening survey, initial assessment, and 67 individual patient interviews to capture the effects of misdiagnosis, missed diagnosis, or delayed diagnosis on patient lives. Audio recordings of patient interviews were transcribed, and a hybrid thematic analysis approach was used to capture details about 4 main domains of interest: the patient's DDF experience, contributing factors, impact, and strategies to mitigate future occurrences.ResultsDental patients endured prolonged suffering, disease progression, unnecessary treatments, and the development of new symptoms as a result of experiencing DE. Poor provider communication, inadequate time with provider, and lack of patient self-advocacy and health literacy were among the top attributes patients believed contributed to the development of a DE. Patients suggested that improvements in provider chairside manners, more detailed patient diagnostic workups, and improving personal self-advocacy; along with enhanced reporting systems, could help mitigate future DE.ConclusionsThis study demonstrates the valuable insight the patient perspective provides in understanding DEs, therefore aiding the development of strategies to help reduce the occurrences of future DDF events. Given the challenges patients expressed, there is a significant need to create an accessible reporting system that fosters constructive clinician learning.

Background Purpose Methods Results Conclusions For patients with metal implants, computed tomography (CT) imaging results suffer from metal artifacts, which seriously affect image evaluation and even lead to misdiagnosis. Because spectral CT technology has the advantage of quantitative imaging, basis material decomposition, and so on, the current metal artifact reduction methods are utilizing spectral information to reduce metal artifacts with good results. However, they usually require projection data from multiple spectra or energy‐windows, which is difficult to realize in conventional CT.To satisfy the status quo, the aim of this work is to propose a metal artifact reduction (MAR) method based on single spectral CT (MARSS). By incorporating prior information, the average density of some base materials, and a constrained image reconstruction model is established. It forces the solution spaces of the materials to be discrete and finite, making the model easier to solve.The MARSS method uses the idea of discrete tomography to establish a constrained reconstruction model. By incorporating priori knowledge, the constraint forces the solution spaces of some materials to be discrete, which can effectively downsize the solution space and reduce the ill‐posedness of this problem. Then, an iteration algorithm is developed to solve this model. This algorithm iterates alternately between reconstruction and discretization. It ensures that the solution spaces are discrete while the polychromatic projection of the reconstructed image converges to that of the scanned object.The MRASS method significantly reduces artifacts and restores structures near metal to a large extent. Unlike the comparison MAR methods, it effectively prevents the introduction of new artifacts and distortion of the structure.The MARSS method can achieve MAR based on single spectral CT. Subjective and quantitative evaluation of the results show that the method significantly improves image quality compared to competing methods. [ABSTRACT FROM AUTHOR]

The article discusses the challenges posed by lipemic samples in diagnostic laboratories due to lipid interference in spectrophotometric methods. The study examines the use of high-speed centrifugation to mitigate this interference in anti-Xa activity measurement for patients on anticoagulants. Results show that high-speed centrifugation did not significantly impact anti-Xa activity measurement and was effective in overcoming lipemia for unfractioned heparin and low molecular weight heparin. The study suggests that high-speed centrifugation is a simple and effective method to address lipemia interference in laboratory measurements. [Extracted from the article]

Increasing interest in applying large language models (LLMs) to medicine is due in part to their impressive performance on medical exam questions. However, these exams do not capture the complexity of real patient–doctor interactions because of factors like patient compliance, experience, and cognitive bias. We hypothesized that LLMs would produce less accurate responses when faced with clinically biased questions as compared to unbiased ones. To test this, we developed the BiasMedQA dataset, which consists of 1273 USMLE questions modified to replicate common clinically relevant cognitive biases. We assessed six LLMs on BiasMedQA and found that GPT-4 stood out for its resilience to bias, in contrast to Llama 2 70B-chat and PMC Llama 13B, which showed large drops in performance. Additionally, we introduced three bias mitigation strategies, which improved but did not fully restore accuracy. Our findings highlight the need to improve LLMs' robustness to cognitive biases, in order to achieve more reliable applications of LLMs in healthcare. [ABSTRACT FROM AUTHOR]

This article aims at presenting in a didactic way, dosimetry concepts and methods that are relevant for radio-embolization of the liver with 90Y-microspheres. The application of the medical internal radiation dose formalism to radio-embolization is introduced. This formalism enables a simplified dosimetry, where the absorbed dose in a given tissue depends on only its mass and initial activity. This is applied in the single-compartment method, partition model, for the liver, tumour and lung dosimetry, and multi-compartment method, allowing identification of multiple tumours. Voxel-based dosimetry approaches are also discussed. This allows taking into account the non-uniform uptake within a compartment, which translates into a non-uniform dose distribution, represented as a dose--volume histogram. For this purpose, dose--kernel convolution allows propagating the energy deposition around voxel-sources in a computationally efficient manner. Alternatively, local-energy deposition is preferable when the spatial resolution is comparable or larger than the beta-particle path. Statistical tools may be relevant in establishing dose--effect relationships in a given population. These include tools such as the logistic regression or receiver operator characteristic analysis. Examples are given for illustration purpose. Moreover, tumour control probability modelling can be assessed through the linear-quadratic model of Lea and Catcheside and its counterpart, the normal-tissue complication probability model of Lyman, which is suitable to the parallel structure of the liver. The selectivity of microsphere administration allows tissue sparing, which can be considered with the concept of equivalent uniform dose, for which examples are also given. The implication of microscopic deposition of microspheres is also illustrated through a liver toxicity model, even though it is not clinically validated. Finally, we propose a reflection around the concept of therapeutic index (TI), which could help tailor treatment planning by determining the treatment safety through the evaluation of TI based on treatment-specific parameters. [ABSTRACT FROM AUTHOR]

Aim: Successful acute migraine treatment potentially prevents emergency room (ER) consultations but requires that the diagnosis of migraine was given earlier. The aim of this study is to quantify the problem of missed migraine diagnosis prior to ER visits. Methods: Inclusion criterion for this single-center prospective study was the presentation at the ER for acute headache. Patients with acute migraine attacks were assessed for previous migraine attacks, and whether they were given a diagnosis of migraine in the past. Results: Of 137 patients with migraine diagnosis at discharge, 108 (79%) had previous headache attacks fulfilling the criteria for migraine according to The International Classification of Headache Disorders 3rd edition (ICHD-3). Of those, 54 (50%) received the diagnosis for the first time. Conclusion: Half of the migraine patients (50%) presenting in the ER for headache could have been diagnosed earlier. This highlights the need for better detection and treatment of migraine by pre-hospital healthcare providers, as earlier diagnosis and specific acute treatment could have prevented the ER visit. [ABSTRACT FROM AUTHOR]

Cancer will affect more than one in three U.S. residents in their lifetime, and although the diagnosis will be made efficiently in most of these cases, roughly one in five patients will experience a delayed or missed diagnosis. In this integrative review, we focus on missed opportunities in the diagnosis of breast, lung, and colorectal cancer in the ambulatory care environment. From a review of 493 publications, we summarize the current evidence regarding the contributing factors to missed or delayed cancer diagnosis in ambulatory care, as well as evidence to support possible strategies for intervention. Cancer diagnoses are made after follow-up of a positive screening test or an incidental finding, or most commonly, by following up and clarifying non-specific initial presentations to primary care. Breakdowns and delays are unacceptably common in each of these pathways, representing failures to follow-up on abnormal test results, incidental findings, non-specific symptoms, or consults. Interventions aimed at ‘closing the loop’ represent an opportunity to improve the timeliness of cancer diagnosis and reduce the harm from diagnostic errors. Improving patient engagement, using ‘safety netting,’ and taking advantage of the functionality offered through health information technology are all viable options to address these problems. [ABSTRACT FROM AUTHOR]

The inpatient setting is a challenging clinical environment where systems and situational factors predispose clinicians to making diagnostic errors. Environmental complexities limit trialing of interventions to improve diagnostic error in active inpatient clinical settings. Informed by prior work, we piloted a multi-component intervention designed to reduce diagnostic error to understand its feasibility and uptake.From September 2018 to June 2019, we conducted a prospective, pre-test/post-test pilot study of hospital medicine physicians during admitting shifts at a tertiary-care, academic medical center. Optional intervention components included use of dedicated workspaces, privacy barriers, noise cancelling headphones, application-based breathing exercises, a differential diagnosis expander application, and a checklist to enable a diagnostic pause. Participants rated their confidence in patient diagnoses and completed a survey on intervention component use. Data on provider resource utilization and patient diagnoses were collected, and qualitative interviews were held with a subset of participants in order to better understand experience with the intervention.Data from 37 physicians and 160 patients were included. No intervention component was utilized by more than 50 % of providers, and no differences were noted in diagnostic confidence or number of diagnoses documented pre-vs. post-intervention. Lab utilization increased, but there were no other differences in resource utilization during the intervention. Qualitative feedback highlighted workflow integration challenges, among others, for poor intervention uptake.Our pilot study demonstrated poor feasibility and uptake of an intervention designed to reduce diagnostic error. This study highlights the unique challenges of implementing solutions within busy clinical environments. [ABSTRACT FROM AUTHOR]

With the increasingly central role of imaging in medical diagnosis, understanding and monitoring radiological errors has become essential. In the field of oncology, the severity of the disease makes radiological error more visible, with both individual consequences and public health issues. The quantitative trend radiology allows to consider the diagnostic task as a problem of classification supported by the latest neurocognitive theories in explaining decision making errors, this purposeful model provides an actionable framework to support root cause analysis of diagnostic errors in radiology and envision corresponding risk-management strategies. The D for Data, A for Analysis and C for Communication are the three drivers of errors and we propose a practical toolbox for our colleagues to prevent individual and systemic sources of error. [ABSTRACT FROM AUTHOR]

Diagnostic errors in emergency departments (ED) are a significant concern and exacerbated by cognitive biases during patient handoffs. The timing and accuracy of disclosing working diagnoses during these handoffs potentially influence diagnostic decisions, yet empirical evidence remains limited.This parallel, quasi-experimental study involved 40 interns from Japanese teaching hospitals, randomly assigned to control or intervention groups. Each group reviewed eight audio-recorded patient handoff scenarios where working diagnoses were disclosed at the start (control) or end (intervention). Four cases presented correct diagnoses, while four featured incorrect ones. The main measure was diagnostic error rate, calculated as the proportion of incorrect post-handoff responses to total questions asked.No significant difference in diagnostic error rates emerged between the control (39.4 %, 63/160) and intervention (38.8 %, 62/160) groups (point estimate −0.6 %; 95 % CI: −11.3–10.1 %, p=0.91). However, a substantial difference was evident between diagnostic errors after correct (20.6 %, 33/160) and incorrect (57.5 %, 92/160) working diagnoses presented (point estimate: 36.9 %; 95 % CI: 27.0–46.8 %, p<0.001). Diagnostic momentum accounted for 52 % (48/92) of errors under incorrect diagnoses.While the timing of working diagnosis disclosure did not significantly alter diagnostic accuracy during ED handoffs, exposure to incorrect diagnoses markedly increased error rates. These findings underscore the imperative to refine diagnostic skills and reconsider ED handoff protocols to mitigate cognitive biases and optimize patient care outcomes. [ABSTRACT FROM AUTHOR]

Objective This study aimed to compare the predictive values of the American College of Obstetricians and Gynecologists (ACOG), the National Institute for Health and Care Excellence (NICE), and the Society of Obstetricians and Gynecologists of Canada (SOGC) factor-based models for preeclampsia (PE) screening. Study Design We conducted a secondary analysis of maternal and birth data from 32 hospitals. For each delivery, we calculated the risk of PE according to the ACOG, the NICE, and the SOGC models. Our primary outcomes were PE and preterm PE (PE combined with preterm birth) using the ACOG criteria. We calculated the detection rate (DR or sensitivity), the false positive rate (FPR or 1 − specificity), the positive (PPV) and negative (NPV) predictive values of each model for PE and for preterm PE using receiver operator characteristic (ROC) curves. Results We used 130,939 deliveries including 4,635 (3.5%) cases of PE and 823 (0.6%) cases of preterm PE. The ACOG model had a DR of 43.6% for PE and 50.3% for preterm PE with FPR of 15.6%; the NICE model had a DR of 36.2% for PE and 41.3% for preterm PE with FPR of 12.8%; and the SOGC model had a DR of 49.1% for PE and 51.6% for preterm PE with FPR of 22.2%. The PPV for PE of the ACOG (9.3%) and NICE (9.4%) models were both superior than the SOGC model (7.6%; p < 0.001), with a similar trend for the PPV for preterm PE (1.9 vs. 1.9 vs. 1.4%, respectively; p < 0.01). The area under the ROC curves suggested that the ACOG model is superior to the NICE for the prediction of PE and preterm PE and superior to the SOGC models for the prediction of preterm PE (all with p < 0.001). Conclusion The current ACOG factor-based model for the prediction of PE and preterm PE, without considering race, is superior to the NICE and SOGC models. Key Points Clinical factor-based model can predict PE in approximately 44% of the cases for a 16% false positive. The ACOG model is superior to the NICE and SOGC models to predict PE. Clinical factor-based models are better to predict PE in parous than in nulliparous. [ABSTRACT FROM AUTHOR]

Rationale and Objective Methods Results Conclusions Older adults in the Emergency Department (ED) often present with nonspecific complaints (NSC) that might be associated with adverse health outcomes due to underestimating the seriousness of the illness by health care workers.We selected a random sample of patients aged 65 or older who complained of weakness and were hospitalised in internal medicine departments in 2019‐2021. We divided the patients into those with and without specific reasons for hospitalisation after the ED evaluation. Outcome variables included changes in medical care based on CT head scans and blood tests, and whether a delay in diagnosis led to a longer stay, in‐hospital mortality, or readmission within 30 days.Patients were aged 82 ± 8 years and 43.6% (233/536)were female. 46.8% (260/556) of the patients had a specific reason for hospitalisation after the ED evaluation including four patients presenting with confusion, without neurological findings but with acute ischaemia found on the brain CT. Patients without a specific presentation had fewer blood tests done due to a significantly shorter hospital stay (median (1st–3rd quartiles: 3 (2–4) vs. 4 (3–6) days, p < 0.001), a lower mortality rate, 0.3% (n = 1) compared to 4.2% (n = 11), p = 0.002), and fewer readmissions 13.5%(n = 40) compared to 20.4% (n = 53). The deaths and readmissions in both groups were not due to a delay in diagnosis.Elderly patients with a chief complaint of weakness with and without a specific reason for hospitalisation were not at an increased risk for inappropriate treatment or a missed diagnosis. [ABSTRACT FROM AUTHOR]

Abdominal aortic aneurysm (AAA) often remains undetected until rupture due to limited access to diagnostic ultrasound. This trial evaluated a deep learning (DL) algorithm to guide AAA screening by novice nurses with no prior ultrasonography experience. Ten nurses performed 15 scans each on patients over 65, assisted by a DL object detection algorithm, and compared against physician-performed scans. Ultrasound scan quality, assessed by three blinded expert physicians, was the primary outcome. Among 184 patients, DL-guided novices achieved adequate scan quality in 87.5% of cases, comparable to the 91.3% by physicians (p = 0.310). The DL model predicted AAA with an AUC of 0.975, 100% sensitivity, and 97.8% specificity, with a mean absolute error of 2.8 mm in predicting aortic width compared to physicians. This study demonstrates that DL-guided POCUS has the potential to democratize AAA screening, offering performance comparable to experienced physicians and improving early detection. [ABSTRACT FROM AUTHOR]

ABSTRACT Objectives Methods Results Conclusion Critical/urgent X‐ray findings are not always communicated in an appropriate time frame to ED physicians. The practice of radiographers alerting referrers to clinically significant image findings (verbally, via image flags or written comment) is noted internationally but risk assessment data is unavailable in the literature. A hybrid radiographer comment and alert model was piloted in New South Wales and a risk–benefit assessment conducted for timely and safe communication of abnormal X‐ray appearances to ED physicians.Radiographer comments (n = 1102) were provided to five New South Wales EDs by 69 radiographers for a period of 3–12 months. Site auditors classified comments as true positive (TP), false positive (FP) or indeterminate (ID) with respect to the radiology report. FP comments were investigated with ED referrers and a low‐medium‐high‐risk assessment was provided by two independent reviewers.A total of 42 FP (3.9%; 95% confidence interval [CI] 2.9–5.3) comments were analysed for any adverse outcomes. Risk assessments demonstrated 37 low, 5 low‐moderate and no high‐risk cases. A total of 282 direct or potential patient benefits were identified (26.4%; 95% CI 23.8–29.1). A total of 42 radiology report discrepancies were incidentally found: (3.9%; 95% CI 2.9–5.3). Audit results demonstrated areas where the radiographer comment could mitigate risk.The provision of radiographer alerts with a written comment for ED was found to be low risk to patients in the pilot study. Radiographers communicating directly with the emergency team when abnormal image appearances are detected can reduce diagnostic error and improve patient safety and health outcomes. [ABSTRACT FROM AUTHOR]

ABSTRACT In the context of Cloud and Fog computing settings, recent developments in deep learning techniques show great potential for changing several fields, including healthcare. In this study, we make a contribution to this changing field by proposing an enhanced deep learning‐based strategy for classifying chest X‐ray images, using pre‐trained models such as RetinaNet, EfficientNet and Faster‐R‐CNN, which we use through transfer learning. Our strategy outperforms single models and traditional techniques by leveraging critical data gleaned from multiple models, demonstrating the ability of deep learning to improve diagnostic precision. Our approach presents a novel dual‐check system in the context of worries about security, privacy and trust in Cloud and Fog‐based Smart Systems. In this case, a decision support system uses chest X‐ray images to make an initial diagnosis that is then confirmed by a medical practitioner. This cooperative strategy not only reduces diagnostic errors that come from machine and human sources but also emphasises how crucial it is to incorporate AI‐driven solutions into safe and reliable healthcare ecosystems. Our approach raises the bar for the quality of patient care and healthcare outcomes by overcoming the drawbacks of traditional diagnostic methods that depend on the subjective opinions of physicians. Our work brings out how deep learning might transform clinical diagnostics by distinguishing inflammatory regions in chest X‐ray images. Research is needed to fully grasp the transformative potential of deep learning in medical image processing, especially as the healthcare industry continues to embrace AI‐driven solutions. Further research endeavours have to dig into tactics like broadening the scope of datasets, executing data augmentation methodologies and incorporating bespoken features to augment the elasticity and effectiveness of AI‐driven diagnostic systems. [ABSTRACT FROM AUTHOR]

Background: Numerous underlying causes can lead to inflammatory breast disorders. A wide range of non-specific symptoms may be presenting symptoms, which could cause a delay in diagnosis and thus improper therapy. Studies on artificial intelligence (AI) are rapidly developing and offer a wide range of possible uses in breast imaging. Artificial intelligence-based computer-assisted diagnosis (AI-CAD) holds promise in the field of mammography. It demonstrated diagnostic performances that are equivalent to or even better than those achieved by stand-alone methods. The current work aimed to identify whether AI can improve the performance of mammography in diagnosing inflammatory breast diseases and excluding the underlying malignancy in cases resistant to treatment that may reduce the need for interventional procedures such as biopsy. Methods: Our study was a retrograde one done on 34 patients with pathologically proven inflammatory breast lesions. Results: Suppurative breast lesions gave high false positive results. This was also the case with granulomatous mastitis; while simple inflammatory lesions gave true negative results on AI interrogation. Conclusions: Artificial intelligence can be of great value in diagnosing simple inflammatory breast lesions thus following up on such lesions can usually be sufficient without asking for unneeded biopsies. On the other hand, our study showed that AI had high false positive results in suppurative lesions and granulomatous mastitis. Consequently, ultrasonography can be more reliable in their diagnosis. [ABSTRACT FROM AUTHOR]

Background: The most common odontogenic tumor is the solid ameloblastoma. This is concerning due to the progressive bone destruction in its intraosseous variant; this type of pathology often gets a delayed diagnosis due to the asymptomatic characteristic it has. Objective: The aim of the article is to propose a conservative treatment for multicystic ameloblastoma, reviewing the latest concepts, controversies, and treatment options described in the literature. Case Report: A patient arrives to our department with a diagnosis of unicystic ameloblastoma, so decompression and subsequent enucleation were decided as treatment. However, the new histopathological result was a multicystic ameloblastoma; with this result, we decided to continue with the initial treatment, which in fact had an adequate response. A 5‐month radiographic follow‐up was performed in which a decrease in size was evident and enucleation was decided. The postoperative results were favorable after a 2.5‐year follow‐up. Conclusion: The solid ameloblastoma may have a cystic component, in which there is the possibility of diagnostic errors when studying an incisional biopsy; for this reason, the definitive diagnosis should be established until complete enucleation of the lesion is performed. This characteristic in a solid ameloblastoma makes possible a positive response to decompression, making it easier to perform the enucleation subsequently, avoiding other aggressive treatments that can dramatically affect the patient's quality of life and also avoiding costly reconstruction bills. [ABSTRACT FROM AUTHOR]

Mucopolysaccharidosis type II (MPS II) is a rare X-linked recessive inherited lysosomal storage disease. With pathogenic variants of the IDS gene, the activity of iduronate-2-sulfatase (IDS) is reduced or lost, causing the inability to degrade glycosaminoglycans (GAGs) in cells and influencing cell function, eventually resulting in multisystemic manifestations, such as a coarse face, dysostosis multiplex, recurrent respiratory tract infections, and hernias. Diagnosing MPS II requires a combination of clinical manifestations, imaging examinations, urinary GAGs screening, enzyme activity, and genetic testing. Currently, symptomatic treatment is the main therapeutic approach. Owing to economic and drug availability issues, only a minority of patients opt for enzyme replacement therapy or hematopoietic stem cell transplantation. The limited awareness of the disease, the lack of widespread detection technology, and uneven economic development contribute to the high rates of misdiagnosis and missed diagnosis in China. [ABSTRACT FROM AUTHOR]

Background: Pompe disease, a rare autosomal recessive disorder, is caused by mutations in the acid α-glucosidase gene. Pompe disease is a congenital metabolic disorder that affects all organs, particularly the striated muscle and nerve cells. Diagnosis is typically confirmed through enzyme assays that reveal reduced acid α-glucosidase activity. Enzyme replacement therapy utilizing human α-glucosidase is an available treatment option. Timely diagnosis and treatment in the early stages of the disease significantly impact the effectiveness of enzyme replacement therapy in enhancing patient condition. Here, we present a case of a patient with Pompe disease diagnosed 20 years after the onset of clinical symptoms. Case presentation: A 38-year-old Iranian Baloch woman referred to our rheumatology clinic with progressive muscle weakness presents with a complex medical history. On mechanical ventilation for 12 years, she has endured fatigue and limb weakness since the age of 16, exacerbated following an abortion at 19. Despite undergoing corticosteroid and azathioprine therapies, the suspected diagnosis of inflammatory myopathy did not yield improvement. Hospitalization at 23 due to respiratory failure post-pregnancy led to her continued reliance on a ventilator. A dried blood spot test indicated reduced GAA enzyme activity, confirming a diagnosis of Pompe disease through genetic testing. Treatment with myozyme for 2 years demonstrated limited efficacy, as the patient experienced improved breathing but no significant overall improvement in limb-girdle muscular weakness. This case underscores the challenges and complexities involved in diagnosing and managing rare neuromuscular disorders like Pompe disease. Conclusion: Early intervention with enzyme replacement therapy plays a crucial role in halting further muscle loss and disease progression in Pompe disease patients. It is important to note that treatment during advanced stages of the disease may not yield substantial benefits. Nevertheless, enzyme instability and denaturation due to temperature and neutral pH levels, along with limited delivery to disease-relevant tissues, can pose challenges in treatment. However, timely diagnosis of Pompe disease is paramount for its effective management and improved outcomes. [ABSTRACT FROM AUTHOR]

Background Purpose Cyclic vomiting syndrome (CVS), a disorder of gut–brain interaction, presents with recurrent episodes of severe nausea and vomiting. It is often associated with missed or delayed diagnoses and substantial healthcare utilization. Despite historical recognition dating back to the 19th century, epidemiological insights remain limited, with research predominantly originating from specific regions, such as the US. CVS prevalence and incidence rates vary widely and are hindered by inconsistent methodologies and disease recognition.This review aims to provide a comprehensive overview of CVS prevalence and incidence rates. It reviews the currently available data and identifies gaps in knowledge. Understanding the global epidemiology of CVS, increasing awareness of the disease, and fostering global collaboration are crucial. Other pertinent issues include disparities in outcomes, particularly among African Americans and Hispanics in the United States, underscoring the need to understand the social determinants of health that drive disease outcomes. This understanding can inform targeted interventions to address these barriers and achieve equitable healthcare both in the United States and globally. [ABSTRACT FROM AUTHOR]

Background: Appendicitis is the most common abdominal emergency worldwide with lifetime risk of acute appendicitis is 8.6% and 6.7% for men and women respectively. The classical symptomatology only occurs in 50-60% of cases, with accuracy of clinical diagnosis of acute appendicitis being 70-87%. Approximately 20% to 33% of patients with suspected acute appendicitis have atypical findings making clinical diagnosis difficult. Diagnostic errors are common resulting in median incidence of perforation of about 20% and negative appendicectomy from 2% to 30%. Aim: To find out the efficacy of Tzanakis Scoring System in the diagnosis of acute appendicitis Method: This was a Prospective Observational Study conducted over a period of one and half year, from October 2022 to April 2024. The study was conducted in the Postgraduate Department of General Surgery, Government Medical College, Srinagar. All the findings including history, clinical examination, laboratory investigation, ultrasound findings, and intraoperative findings and HPE reports were recorded. The final diagnosis was based on the histopathological findings. Results: In our study 130 patients were included. Out of 130 cases, 13 cases had Tzanaki's score of < 8 and 117 cases had Tzanakis score of = 8. Sensitivity and Specificity of Tzanakis score were 94.44% and 75.00% respectively. Positive Predictive Value (PPV) and Negative Predictive Value (NPV) were 99.17% and 30.00%. The Diagnostic accuracy of Tzanakis Score in the present study was 93.85%. Conclusion: From our study, we concluded that Tzanakis Scoring System has a good diagnostic accuracy, especially when the total cut-off score is 8 or more than 8. It is useful and quite accurate tool to diagnose patients with acute appendicitis. [ABSTRACT FROM AUTHOR]

Infective endocarditis (IE) continues to have high rates of adverse outcomes, despite recent advances in diagnosis and management. Although the use of computer tomography and nuclear imaging appears to be increasing, echocardiography, widely available in most centers, is the recommended initial modality of choice to diagnose and consequently guide the management of IE in a timely‐dependent fashion. Echocardiographic imaging should be performed as soon as the IE diagnosis is suspected. Several factors may delay diagnosis, for example, echocardiography findings may be negative early in the disease course. Thus, repeated echocardiography is recommended in patients with negative initial echocardiography if high suspicion for IE persists in patients at high risk. However, systematic echocardiographic screening should not be utilized as a common tool for fever, but only in the presence of a reasonable clinical suspicion of IE. It may increase the risk of false‐positive rates of patients requiring IE therapy or may exacerbate diagnostic uncertainty about subtle findings. Considering the complexity of the disease, the echocardiographic use should be increasingly time‐efficient and should focus on the correct identification of IE lesions and associated complications. The path to identify patients who need surgery passes through an echocardiographic skill ensuring the identification of the cardiac anatomical structures and their involvement in the destructive infective extension. We pointed out the role of echocardiography focused on the correct identification of IE distinctive lesions and the associated complications, as part of a diagnostic strategy, within an integrated multimodality imaging, managed by an "endocarditis team". [ABSTRACT FROM AUTHOR]

While existing literature suggests that posttraumatic stress disorder (PTSD) is frequently undetected in routine clinical practice, the detection rate of PTSD in patients with a personality disorder (PD) has not been investigated. This study examined the point prevalence of PTSD and frequency of trauma-focused treatment in 204 outpatients with a PD. Data were derived from electronic patient files. Compared to the mean weighted prevalence of PTSD in the literature, the Mini International Neuropsychiatric Interview Plus (MINI-Plus) found lower rates of PTSD for the entire sample (29.2%), but not separately for patients with borderline PD (BPD; 33.3%) and patients with other PDs (26.9%). In addition, PTSD diagnoses following intake were less prevalent for PD patients overall (18.6%), BPD patients (27%), and patients with other PDs (13.8%). The present study provides preliminary evidence that PTSD might be underdiagnosed and consequently unmanaged in PD patients in clinical practice, suggesting that the recognition of PTSD among patients with PD needs improvement. [ABSTRACT FROM AUTHOR]

Patients with petrous bone cholesteatoma most commonly present with hearing loss and facial paralysis. Other clinical presentations can include otorrhea, tinnitus, aural fullness, otalgia, and dizziness. Here, we report a patient with petrous bone cholesteatoma who presented with cerebrospinal fluid rhinorrhea. This patient was initially misdiagnosed with rhinogenic cerebrospinal fluid leakage, and was finally diagnosed with the supralabyrinthine type of petrous bone cholesteatoma. During the surgical repair through the transmastoid trans-superior semicircular canal approach, the fistula was found in the superior wall of the internal auditory canal. He had satisfactory outcomes after the surgery, with no recurrent cerebrospinal fluid rhinorrhea. [ABSTRACT FROM AUTHOR]

Background: Nodular fasciitis is a benign, singularly occurring nodular fibroblastic/myofibroblastic neoplasia. Due to the rapid growth and cellular atypia, this rare differential diagnosis in the head and neck region can be mistaken for malignant sarcomas. Methods: We present a 40-year-old female patient with an unclear, rough, and poorly displaceable supraclavicular swelling on the right as part of a medical check-up. Sonographically, the lump was poorly circumscribed with little vascularization. A consecutive core needle biopsy of the lesion yielded inconclusive results showing spindle-shaped tumor cells. 68Ga-FAPI-PET/CT showed an intensive uptake of the right supraclavicular lesion in addition to postoperative changes in the right tonsil. Subsequent operative partial excision of the lesion confirmed the histopathological diagnosis of nodular fasciitis. Results: Nodular fasciitis is the most prevalent pseudosarcoma found in soft tissues. This case is the first description of 68Ga-FAPI-PET/CT in nodular fasciitis. Surgical removal is advised; nevertheless, the tumor frequently diminishes on its own, and recurrence is rare. Extensive surgical therapy is not necessary. Conlcusions: The recognition of nodular fasciitis and its benign characteristics is crucial to prevent diagnostic errors and the subsequent unnecessary operative treatment of the patient. [ABSTRACT FROM AUTHOR]

To ensure the quality of their analyses, medical laboratories carry out internal quality control (IQC) on a daily basis. IQC involves control samples with known target values for all parameters used by a laboratory in clinical practice. The use of IQC enables the laboratory to monitor the accuracy and precision of laboratory results. The use of appropriate IQC strategies has been accepted in medical laboratories for decades, and IQC has been included in international recommendations and guidelines. The term "IQC strategy" (also termed a quality control plan) refers to the types of IQC materials to be measured, the frequency of IQC events, the number of concentration levels in each IQC event, and the IQC rules to be used. A scientifically sound IQC strategy must follow two principles, namely, (1) statistical follow-up on the IQC results generated in the laboratory by means of Levey–Jennings control charts and Westgard rules (i.e., quality control by means of statistical procedures) and (2) the determination of limits on the basis of medical considerations and the definition of analytical goals (quality control on the basis of medical relevance). In this narrative review, we describe the fundamental principles of an adequate IQC strategy for laboratorians and nonlaboratorians. [ABSTRACT FROM AUTHOR]

Background: Postoperative hypoparathyroidism is a major complication of thyroidectomy, occurring when the parathyroid glands are inadvertently damaged during surgery. Although intraoperative images are rarely used to train artificial intelligence (AI) because of its complex nature, AI may be trained to intraoperatively detect parathyroid glands using various augmentation methods. The purpose of this study was to train an effective AI model to detect parathyroid glands during thyroidectomy. Methods: Video clips of the parathyroid gland were collected during thyroid lobectomy procedures. Confirmed parathyroid images were used to train three types of datasets according to augmentation status: baseline, geometric transformation, and generative adversarial network-based image inpainting. The primary outcome was the average precision of the performance of AI in detecting parathyroid glands. Results: 152 Fine-needle aspiration-confirmed parathyroid gland images were acquired from 150 patients who underwent unilateral lobectomy. The average precision of the AI model in detecting parathyroid glands based on baseline data was 77%. This performance was enhanced by applying both geometric transformation and image inpainting augmentation methods, with the geometric transformation data augmentation dataset showing a higher average precision (79%) than the image inpainting model (78.6%). When this model was subjected to external validation using a completely different thyroidectomy approach, the image inpainting method was more effective (46%) than both the geometric transformation (37%) and baseline (33%) methods. Conclusion: This AI model was found to be an effective and generalizable tool in the intraoperative identification of parathyroid glands during thyroidectomy, especially when aided by appropriate augmentation methods. Additional studies comparing model performance and surgeon identification, however, are needed to assess the true clinical relevance of this AI model. [ABSTRACT FROM AUTHOR]

Purpose: Umbilical hernias (UH) have a higher prevalence than previously considered. With the high workload radiologists must endure, UH can be missed when interpreting a computed tomography scan (CT). The clinical implications of its misdiagnosis are yet to be determined. Unreporting could lead to content lesions in surgical approaches and other potential complications. The aim was to determine the prevalence of UH using CT scans, and the incidence of radiological reporting. Methods: A multicenter, cross-sectional study was performed in four tertiary-level hospitals. CT scans were reviewed for abdominal wall defects at the umbilicus, and radiological reports were examined to compare findings. In the case of UH, transversal, anteroposterior, and craniocaudal lengths were obtained. Results: A total of 1557 CTs were included, from which 971 (62.4%, 95% CI 0.59–0.64) had UH. Out of those, 629 (64.8%, 95% CI 0.61–0.67) of the defects were not included in the radiological report. Smaller UH (x̄: 7.7 × 6.0 mm) were more frequently missed. Of the reported UH, 187 (54.7%) included at least one axis measurement, 289 (84.5%) content description, and 146 (42.7%) whether or not there were complication signs. Conclusion: There is a high prevalence of UH, and a high incidence of under-reporting. This raises the question of whether this is a population-based finding or the norm worldwide. The reason of under-reporting and the clinical implications of these must be addressed in further studies. [ABSTRACT FROM AUTHOR]

Background: There is growing concern that pulse oximeters are routinely less accurate in hospitalized patients with darker skin pigmentation, in turn increasing risk of undetected (occult) hypoxemia and adverse clinical outcomes. The aim of this systematic review and meta-analysis was to synthesize evidence on racial and ethnic disparities in occult hypoxemia prevalence and clinical impacts of undetected hypoxemia. Methods: Ovid MEDLINE, Embase, and CINAHL databases were searched for relevant articles published through January 2024. Eligible studies must have been conducted among adults in inpatient or outpatient settings and report occult hypoxemia prevalence stratified by patient race or ethnicity, or clinical outcomes stratified by patient race or ethnicity and occult hypoxemia status. Screening for inclusion was conducted independently by two investigators. Data extraction and risk of bias assessment were conducted by one investigator then checked by a second. Outcome data were synthesized using random-effects meta-analyses. Results: Fifteen primary studies met eligibility criteria and reported occult hypoxemia prevalence in 732,505 paired oximetry measurements from 207,464 hospitalized patients. Compared with White patients, occult hypoxemia is likely more common among Black patients (pooled prevalence ratio = 1.67, 95% CI 1.47 to 1.90) and among patients identifying as Asian, Latinx, Indigenous, multiracial, or other race or ethnicity (pooled prevalence ratio = 1.39, 95% CI 1.19 to 1.64). Findings from studies reporting clinical outcomes suggest that Black patients with undetected hypoxemia may experience poorer treatment delivery outcomes than White patients with undetected hypoxemia. No evidence was found from outpatient settings. Discussion: This review and included primary studies rely on self-identified race or ethnicity, which may obscure variability in occult hypoxemia risk. Findings underscore that clinicians should be aware of the risk of occult hypoxemia in hospitalized patients with darker skin pigmentation. Moreover, oximetry data from included studies suggests that the accuracy of pulse oximeters could vary substantially from patient to patient and even within individual patients. Trial Registration: PROSPERO (CRD42023402152). [ABSTRACT FROM AUTHOR]

Introduction: The calcaneus is the most commonly fractured tarsal bone. Diagnosis is often challenging due to subtle radiographic changes and requires timely identification to prevent complications, including subtalar arthritis, neurovascular injury, malunion, osteomyelitis, and compartment syndrome. Treatment varies based on fracture type, with non-surgical methods for non-displaced stress fractures and surgical interventions for displaced or intra-articular fractures. Methods: This study utilized the Wisdom in Diagnostic Imaging Simulation (WIDI SIM) platform, an emergency imaging simulation designed to assess radiology resident preparedness for independent call. During an 8-hour simulation, residents were tested on 65 cases across various imaging modalities of varying complexity, including normal studies. A single, unique case of calcaneal fracture was included within the simulation in four separate years of testing. Cases were assessed using a standardized grading rubric by subspecialty radiology faculty, with errors subsequently classified by type. Results: A total of 1279 residents were tested in five separate years on the findings of calcaneal fractures of 5 different patients. Analysis revealed a consistent pattern of missed diagnoses across all training years, primarily attributed to observational errors. There was limited improvement with training progression as all training years exhibited similar average performance levels. Conclusions: Calcaneal fractures pose a diagnostic challenge due to their frequent subtle radiographic findings, especially in stress fractures. Simulation-based evaluations using WIDI SIM highlighted challenges in radiology residents' proficiency in diagnosing calcaneal fractures. Addressing these challenges through targeted education and exposure to diverse cases is essential to improve diagnostic accuracy and reduce complications with calcaneal fractures. [ABSTRACT FROM AUTHOR]

Purpose: Primary central nervous system lymphoma (PCNSL) is a rare but deadly malignancy that principally affects adults in the fifth and sixth decades of life. Despite diagnostic advances in analyses of cerebral spinal fluid and neuroimaging, definitive diagnosis of PCNSL requires primary brain tissue biopsy. While small neurosurgical biopsy volumes are pursued to minimize removal of normal brain tissue, the spatial margins to precisely biopsy pathologic tissue are narrow and can result in missed diagnoses. Furthermore, prior steroid treatment can significantly reduce tumor burden increasing the likelihood of a non-diagnostic biopsy. Methods: A retrospective case report from a tertiary referral center using a combination of neuroradiological studies, sterotactic tissue biopsy, and molecular testing for genome mutations. Results: A 72-year-old woman with strong suspicion for PCNSL clinically and radiologically, but cerebral spinal fluid and primary brain tissue biopsy were negative for tumor. However, vitreous liquid biopsy molecular testing for a MYD88 mutation as well as B-cell clonality (IGH/IGK rearrangement) were positive, indicating the presence of secondary vitreoretinal lymphoma from PCNSL. Only after autopsy of her brain was histopathological and immunohistochemical evidence of PCNSL confirmed. Conclusion: This case illustrates the unique contribution of liquid biopsy neuropathology-oriented molecular testing in a challenging case with high clinical suspicion of PCNSL in which gold-standard diagnostic testing failed to yield a diagnosis. [ABSTRACT FROM AUTHOR]

Introduction: Accurate diagnosis and timely management are vital for favorable uveitis outcomes. Artificial Intelligence (AI) holds promise in medical decision-making, particularly in ophthalmology. Yet, the diagnostic precision and management advice from AI-based uveitis chatbots lack assessment. Methods: We appraised diagnostic accuracy and management suggestions of an AI-based chatbot, ChatGPT, versus five uveitis-trained ophthalmologists, using 25 standard cases aligned with new Uveitis Nomenclature guidelines. Participants predicted likely diagnoses, two differentials, and next management steps. Comparative success rates were computed. Results: Ophthalmologists excelled (60–92%) in likely diagnosis, exceeding AI (60%). Considering fully and partially accurate diagnoses, ophthalmologists achieved 76–100% success; AI attained 72%. Despite an 8% AI improvement, its overall performance lagged. Ophthalmologists and AI agreed on diagnosis in 48% cases, with 91.6% exhibiting concurrence in management plans. Conclusions: The study underscores AI chatbots' potential in uveitis diagnosis and management, indicating their value in reducing diagnostic errors. Further research is essential to enhance AI chatbot precision in diagnosis and recommendations. [ABSTRACT FROM AUTHOR]

The simultaneous fault detection and control (SFDC) has emerged as a reliable scheme. However, what happens when the designed structure undergoes changes? Such variations have the potential to cause instability and misdiagnosis. This paper delves into a cutting-edge SFDC structure that surpasses conventional designs in terms of reliability. The proposed Resilient Simultaneous Fault Detection and Control (RSFDC) structure considers variations in the designed parameters and provides a more robust and fault-tolerant approach to SFDC, with important implications for the design of reliable and resilient control systems in a broad range of applications. This scheme is formulated as a multi-objective optimisation problem, encompassing control and diagnosis objectives. Specifically, it aims to minimise the impact of faults and disturbances on the controlled output while reducing residual sensitivity to all changes and maximising the fault effects on the residual. Through simulation comparisons, this paper showcases the merits of the RSFDC structure in two examples, highlighting its superiority over other designs. [ABSTRACT FROM AUTHOR]

Introduction Hidradenitis suppurativa (HS) is a multifactorial chronic inflammatory follicular disorder affecting apocrine gland-bearing areas of the body. We conducted an observational study to assess the ultrasonography (USG) findings in suspected HS patients at a tertiary care center in North India over 6 months. Aim The aim of this article was to study the USG findings in HS and correlate clinical and USG findings and scoring systems in HS with stage wise treatments. Materials and Methods All patients with a clinical suspicion of HS underwent an USG examination after clinical examination with a probe of 18 Hz frequency. Hurley's staging of patients was used to stage clinically, and the HS-SOS scoring and Doppler changes were assessed on USG. The treatment was revised in case of a change in the USG grading of severity. Results A total of 23 patients suspected of HS underwent USG evaluation, of which 12 (52%) were male and 9 (48%) were females, with the mean age being 25.3 years (range: 14–40 years). Based on the HS clinical grading, eleven patients (47.8%) were Hurley's stage I, six patients (26%) were stage II, and six patients (26%) were stage III. USG demonstrated that three patients had been misdiagnosed and had folliculitis (8.6%) and Crohn's disease (4.3%). Out of the remaining twenty patients with USG features of HS, based on HS SOS grading, three patients (15%) were grade I, seven (35%) were grade II, and ten (50%) were grade III. Of these, nineteen patients (95%) had axillary involvement, which was bilateral in 84% of cases. The other region affected was the groin in five patients (26.3%), while two had inframammary involvement (10.5%). On further characterization of the type of lesion, nodules (41; 40.6%) were the most common type of lesion by sinuses and thickened hair follicles in 31 (30.6%) patients. Based on USG findings, the management of 26% of patients was changed from medical to surgical intervention. Conclusion USG and Doppler are noninvasive bedside tools for the examination of HS, which helps to rule out differentials and delineate the extent and depth of the disease better by picking up subclinical lesions and help in determining disease activity by Doppler, which in turn helps in planning appropriate medical and surgical management of patients. It also identifies radiological parameters that help identify patients who could fail medical management. [ABSTRACT FROM AUTHOR]

An aortoenteric fistula (AEF) is an uncommon cause of gastrointestinal bleeding that requires prompt diagnosis and intervention owing to its high mortality rate. Moreover, iliac aneurysmo-colonic fistula is an exceptionally infrequent presentation. We report a unique case of a 71-year-old male presenting with hematochezia, later diagnosed with a primary fistula between a common iliac artery aneurysm and the sigmoid colon. Initially, the patient was misdiagnosed as having a gastrointestinal stromal tumor, leading to delayed and emergent surgical intervention due to massive bleeding 2 days later. This case is particularly notable for its rarity, misinterpretation of the initial diagnosis, complicated surgical procedures, and development of complications including ischemic myopathy. This case highlights the criticality of accurate diagnosis with a high index of suspicion, significance of consultation with a vascular surgeon for vascular abnormalities, and importance of considering ischemic time in the sequence of surgical treatments to ensure timely and appropriate management. [ABSTRACT FROM AUTHOR]

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). Each imaging study was presented with demographic data, the chief complaint, and associated symptoms, and diagnoses were registered using an online survey tool. The impact of Artificial Intelligence (AI) on diagnostic accuracy, confidence, user experience, input prompts, and generated responses was assessed. False information was registered. Linear mixed-effect models were used to quantify the factors (fixed: experience, modality, AI assistance; random: radiologist) influencing diagnostic accuracy and confidence. Results: When assessing if the correct diagnosis was among the top-3 differential diagnoses, diagnostic accuracy improved slightly from 181/240 (75.4%, unassisted) to 188/240 (78.3%, AI-assisted). Similar improvements were found when only the top differential diagnosis was considered. AI assistance was used in 77.5% of the readings. Three hundred nine prompts were generated, primarily involving differential diagnoses (59.1%) and imaging features of specific conditions (27.5%). Diagnostic confidence was significantly higher when readings were AI-assisted (p > 0.001). Twenty-three responses (7.4%) were classified as hallucinations, while two (0.6%) were misinterpretations. Conclusion: Integrating GPT-4 in the diagnostic process improved diagnostic accuracy slightly and diagnostic confidence significantly. Potentially harmful hallucinations and misinterpretations call for caution and highlight the need for further safeguarding measures. Clinical relevance statement: Using GPT-4 as a virtual assistant when reading images made six radiologists of different experience levels feel more confident and provide more accurate diagnoses; yet, GPT-4 gave factually incorrect and potentially harmful information in 7.4% of its responses. Key Points: The benefits and dangers of GPT-4 for textual assistance in radiologic image interpretation are unclear. GPT-4's textual assistance improved radiologists' diagnostic accuracy from 75 to 78%. Less experienced radiologists used GPT-4 for guidance on differential diagnoses and imaging findings. [ABSTRACT FROM AUTHOR]

2016 American College of Rheumatology/European League Against Rheumatism (ACR/EULAR) primary Sjögren's syndrome (SS) diagnostic criteria did not incorporate radiographic examination while staging SS according to salivary gland imaging and serological autoantibody tests was not discussed. The aim is to study the value of parotid sialography for diagnosing SS, and to initially explore the method of staging SS based on the results of imaging and serological autoantibody tests. 287 patients' clinical records were included. The sensitivity and specificity of parotid sialography in the diagnosis of SS were investigated. SS patients were categorized into early stage (autoantibody positive, imaging does not support SS), active stage (autoantibody positive, imaging supports SS), and quiescent stage (autoantibody negative, imaging supports SS), clinical characteristics of different stages were compared. The sensitivity of parotid sialography for the diagnosis of SS was 82.6%, the specificity was 71.5%. 10-minute USFR of the patients in the active stage (0.18 ± 0.38 ml/10min) was significantly lower than that of early stage (0.34 ± 0.47 ml/10min) and quiescent stage (0.54 ± 0.52 ml/10min), P = 0.010, and the rate of confirmed SS was significantly higher in the active stage (82.9%) than that in the early stage (44.4%) and the quiescent stages (14.8%), P < 0.001. Parotid sialography remains valuable in the diagnosis of SS. Performing imaging and serological autoantibody tests before lip gland biopsy may reduce invasive examinations for patients without significantly increasing the rate of missed diagnosis. According to imaging and serological autoantibody tests, SS can be categorized into early, active, and quiescent stages. [ABSTRACT FROM AUTHOR]

Diagnostic errors are associated with patient harm and suboptimal outcomes. Despite national scientific efforts to advance definition, measurement and interventions for diagnostic error, diagnosis in mental health is not well represented in this ongoing work. We aimed to summarise the current state of research on diagnostic errors in mental health and identify opportunities to align future research with the emerging science of diagnostic safety. We review conceptual considerations for defining and measuring diagnostic error, the application of these concepts to mental health settings, and the methods and subject matter focus of recent studies of diagnostic error in mental health. We found that diagnostic error is well understood to be a problem in mental healthcare. Although few studies used clear definitions or frameworks for understanding diagnostic error in mental health, several studies of missed, wrong, delayed and disparate diagnosis of common mental disorders have identified various avenues for future research and development. Nevertheless, a lack of clear consensus on how to conceptualise, define and measure errors in diagnosis will pose a barrier to advancement. Further research should focus on identifying preventable missed opportunities in the diagnosis of mental disorders, which may uncover generalisable opportunities for improvement. [ABSTRACT FROM AUTHOR]

Introduction Although diagnostic errors have gained renewed focus within the patient safety domain, measuring them remains a challenge. They are often measured using methods that lack information on decision-making processes given by involved physicians (eg, record reviews). The current study analyses serious adverse event (SAE) reports from Dutch hospitals to identify common contributing factors of diagnostic errors in hospital medicine. These reports are the results of thorough investigations by highly trained, independent hospital committees into the causes of SAEs. The reports include information from involved healthcare professionals and patients or family obtained through interviews. Methods All 71 Dutch hospitals were invited to participate in this study. Participating hospitals were asked to send four diagnostic SAE reports of their hospital. Researchers applied the Safer Dx Instrument, a Generic Analysis Framework, the Diagnostic Error Evaluation and Research (DEER) taxonomy and the Eindhoven Classification Model (ECM) to analyse reports. Results Thirty-one hospitals submitted 109 eligible reports. Diagnostic errors most often occurred in the diagnostic testing, assessment and follow-up phases according to the DEER taxonomy. The ECM showed human errors as the most common contributing factor, especially relating to communication of results, task planning and execution, and knowledge. Combining the most common DEER subcategories and the most common ECM classes showed that clinical reasoning errors resulted from failures in knowledge, and task planning and execution. Follow-up errors and errors with communication of test results resulted from failures in coordination and monitoring, often accompanied by usability issues in electronic health record design and missing protocols. Discussion Diagnostic errors occurred in every hospital type, in different specialties and with different care teams. While clinical reasoning errors remain a common problem, often caused by knowledge and skill gaps, other frequent errors in communication of test results and follow-up require different improvement measures (eg, improving technological systems). [ABSTRACT FROM AUTHOR]

This paper presents the anatomical and biomechanical aspects of chronic instability of the craniocervical junction (CCJ) with a discussion on clinical diagnostics based on mobility tests and provocative tests related to ligamentous system injuries, as well as radiological criteria for CCJ instability. In addition to the structural instability of the CCJ, the hypothesis of its functional form resulting from cervical proprioceptive system (CPS) damage is discussed. Clinical and neurophysiological studies have shown that functional disorders or organic changes in the CPS cause symptoms similar to those of vestibular system diseases: dizziness, nystagmus, and balance disorders. The underlying cause of the functional form of CCJ instability may be the increased activity of mechanoreceptors, leading to "informational noise" which causes vestibular system disorientation. Due to the disharmony of mutual stimulation and the inhibition of impulses between the centers controlling eye movements, the cerebellum, spinal motoneurons, and the vestibular system, inadequate vestibulospinal and vestibulo-ocular reactions occur, manifesting as postural instability, dizziness, and nystagmus. The hyperactivity of craniocervical mechanoreceptors also leads to disturbances in the reflex regulation of postural muscle tone, manifesting as "general instability". Understanding this form of CCJ instability as a distinct clinical entity is important both diagnostically and therapeutically as it requires different management strategies compared to true instability. Chronic CCJ instability significantly impacts the quality of life (QOL) of affected patients, contributing to chronic pain, psychological distress, and functional impairments. Addressing both structural and functional instability is essential for improving patient outcomes and enhancing their overall QOL. [ABSTRACT FROM AUTHOR]

Background: Prenatal serological screening is commonly used to screen for trisomy 21 syndrome (T21); however, it carries a risk of missed detection. In this study, we explored how to reduce missed diagnosis of T21 in serological screening. Methods: A total of 116 pregnant women with T21 fetuses confirmed by prenatal diagnosis were evaluated. Serological screening and non-invasive prenatal test (NIPT) findings were analyzed. Results: Twenty-nine T21 fetuses were missed in serological screening; the missed diagnosis rate was 25%, 67.65% of the missed cases were of moderate risk, and 79.31% of the missed pregnant women were under 35 years of age. Nuchal translucency (NT) and the free beta subunit of human chorionic gonadotropin (free-HCGβ) were higher in the detected T21 cases than in the missed T21 cases, while alpha-fetoprotein (AFP) levels were decreased. Fortyeight pregnant women who underwent NIPT in the second trimester were at high-risk for T21. Conclusions: Prenatal screening should not be ignored in young pregnant women. For serological screening, moderate risk and abnormal single serum markers should also receive greater attention. NIPT can be extended to first-tier screening. [ABSTRACT FROM AUTHOR]

The article presents a case study of a middle-aged man diagnosed with hepatocellular carcinoma and highlights the challenges faced by non-oncology healthcare providers in managing immune-related adverse events (irAEs) associated with immune checkpoint inhibitors (ICIs). It states that by following his treatment with bevacizumab and atezolizumab, the patient experienced severe abdominal pain and diarrhea, which were misattributed to infection rather than a potential irAE.

Intraosseous arteriovenous malformations (AVM) are uncommon high-flow vascular malformation that can affect the maxilla or mandible. AVM may present with aspecific and misleading signs and symptoms. The diagnosis is often accidental and bleeding may represent the first symptom. Radiographically, there are few characteristic features and misdiagnosis is easy. Here we report the case of a young male affected by arteriovenous fistula on the right side of the mandible initially misdiagnosed as a cystic lesion. The patient underwent transarterial embolization of the vascular malformation and subsequently the lesion was surgically removed. 1-year follow-up showed complete healing of the mandibular bone and absence of recurrence. Intraosseous arteriovenous malformations are rare entities. However, due to their harmfulness, both clinicians and radiologists must be aware of this type of lesion and should always consider them in the differential diagnosis of osteolytic lesions. [ABSTRACT FROM AUTHOR]

The purpose of this study was to evaluate pre- and post-fracture medical management of osteoporosis among patients who underwent surgical fixation of femoral neck fractures (FNF) and vertebral compression fractures (VCF), and to investigate if there is a difference in treatment, management, and subsequent fractures between FNF and VCF patients. Patients who underwent surgical fixation of FNF or VCF were retrospectively reviewed at a minimum 1 year follow up. Patients were excluded if their fracture was caused by high energy trauma or malignancy, <50 years-old, deceased, or lost to follow up. Patient demographics such as age, sex, BMI, American Society of Anesthesiology Physical Status Classification System and Charleston Comorbidity index were recorded. Management of osteoporosis, including medication regimen and dual-energy X-ray absorptiometry (DEXA) scans were assessed preoperatively and at minimum one year follow up. Subsequent fractures were also recorded. In the analysis of 370 patients (74.7% FNF, 25.2% VCF), demographics showed a predominantly female population (mean age 78.1). Preoperatively, 21.6% were diagnosed with osteoporosis, consistent between FNF and VCF. Postoperatively, there were no significant differences in new osteoporosis diagnoses, bisphosphonate use, or subsequent fractures. VCF patients, however, were more likely to receive denosumab and post-operative DEXA scans (p < 0.05). Within a year, 6.2% experienced subsequent fractures, with no significant FNF-VCF difference. Only 12.7% received appropriate post-operative osteoporosis treatment, 27.1% had DEXA scans, and 25% had a recorded osteoporosis diagnosis. Multivariable analysis highlighted pre-fracture osteoporosis diagnosis as the sole predictor for post-operative DEXA scans and anti-osteoporotic medication (p < 0.001). This study suggests that factors beyond the type of fragility fracture may influence subsequent fracture risk and anti-osteoporotic medication administration in elderly patients. These findings underscore the importance of a comprehensive approach to fracture risk assessment and treatment decisions in this population. III. [ABSTRACT FROM AUTHOR]

Introduction Methods Results Discussion Diagnostic errors are often attributed to erroneous selection and interpretation of patients' clinical information, due to either cognitive biases or knowledge deficits. However, whether the selection or processing of clinical information differs between correct and incorrect diagnoses in written clinical cases remains unclear. We hypothesised that residents would spend more time processing clinical information that was relevant to their final diagnosis, regardless of whether their diagnosis was correct.In this within‐subjects eye‐tracking experiment, 19 internal or emergency medicine residents diagnosed 12 written cases. Half the cases contained a correct diagnostic suggestion and the others an incorrect suggestion. We measured how often (i.e. number of fixations) and how long (i.e. dwell time) residents attended to clinical information relevant for either suggestion. Additionally, we measured confidence and time to diagnose in each case.Residents looked longer and more often at clinical information relevant for the correct diagnostic suggestion if they received an incorrect suggestion and were able to revise this suggestion to the correct diagnosis (dwell time: M: 6.3 seconds, SD: 5.1 seconds; compared to an average of 4 seconds in other conditions; number of fixations: M: 25 fixations, SD: 20; compared to an average of 16–17 fixations). Accordingly, time to diagnose was longer in cases with an incorrect diagnostic suggestion (M: 86 seconds, SD: 47 seconds; compared to an average of 70 seconds in other conditions). Confidence (range: 64%–67%) did not differ depending on residents' accuracy or the diagnostic suggestion.Selectivity in information processing was not directly associated with an increase in diagnostic errors but rather seemed related to recognising and revising a biased suggestion in favour of the correct diagnosis. This could indicate an important role for case‐specific knowledge in avoiding biases and diagnostic errors. Future research should examine information processing for other types of clinical information. [ABSTRACT FROM AUTHOR]

Introduction: Urinary tract infections (UTIs) pose a significant health concern, particularly among pregnant women, for whom accurate diagnosis is essential. However, the use of Urine flow cytometry (UF) for detecting UTIs in this demographic often results in misdiagnosis. The objective of this study was to explore the reasons behind these diagnostic errors and to develop a strategy to minimize the rate of UTI misdiagnosis in pregnant women. Material and methods: The study enrolled 1,200 women aged 18 to 40 years, categorized into pregnant and non-pregnant groups. UTIs were diagnosed using urine bacterial culture, microscopic examination, and UF, followed by statistical analysis to identify any discrepancies in diagnosis between the groups. Following the calibration of UF analyzer's parameters, the most effective CR(WBC)-CW-FSC-P Gain setting for diagnosing UTIs in pregnant women through UF was ascertained by applying the Youden index. Results: The clinical diagnosis rate of UTIs was significantly higher in pregnant women (40.91%) compared to non-pregnant women (20.26%). However, urine microscopy and bacterial culture showed no significant difference in the rates of UTIs between the two groups, suggesting a potential for misdiagnosis. The false-positive rate for WBCs detected by UF was 30.43%, and adjusting the CR(WBC)-CW-FSC-P Gain value of UF reduced the false-positive rate to 9.45%. Conclusion: The incidence of UTIs in pregnant women may be overestimated because of the limitations inherent to UF. Adjusting the parameters of the UF analyzer, particularly the CR(WBC)-CW-FSC-P Gain value, can significantly reduce the rate of UTI misdiagnosis in pregnant women. [ABSTRACT FROM AUTHOR]

Background: Ambulatory blood pressure monitoring (ABPM) is considered the gold standard for proper diagnosis of hypertension. Yet, access to ABPM in the U.S. is limited, and the extent of coverage by commercial health plans remains uncertain, potentially limiting access to ABPM among commercially insured patients. Objective: This study aims to assess the net cost impact of using ABPM in comparison to clinical blood pressure monitoring (CBPM) in the U.S. over a 5-year time period. Design methods: Using a Markov Model, we estimate the 5-year cumulative cost impact of using ABPM to confirm a prior diagnosis of primary hypertension using CBPM to avoid treatment for white-coat hypertension (WCH) in a hypothetical cohort of 1000 patients from a U.S. healthcare system perspective. The probability and cost inputs for the model were derived from available literature. Base-case model parameters were varied to account for different scenarios. Results: Base-case results indicate using ABPM instead of CBPM over 5 years saves a total of $348,028, reflecting an average per-person-per-year (PPPY) cost saving of $70. In sensitivity analyses, almost all cases reveal ABPM as a cost-saving approach compared to CBPM, with cost savings reaching up to $228 PPPY in the highest hypertension treatment cost model. Regression results reveal that ABPM was cost-saving compared to CBPM if ABPM annual payment rates are $100 or less and annual hypertension treatment costs are ⩾$300. Conclusion: The potential cost-savings of using ABPM instead of CBPM found in our simulation model underscores the need for confirmatory research using real-world data to support increased use of ABPM as the standard diagnostic approach for hypertension. [ABSTRACT FROM AUTHOR]

Background and objective: Misdiagnosis of ruptured abdominal aortic aneurysms (rAAA) contributes to delayed treatment and potentially higher mortality. The symptomatology in patients with rAAA is complex and challenging, 25–50% presumably fulfill the criteria of the standard triad of signs (STS). The objective was to determine the initial signs registered for patients with verified rAAAs, and to investigate if an expanded diagnostic triad could increase the diagnostic accuracy. Methods: A population-based study was conducted among all patients presenting with verified rAAAs in Stockholm County, Sweden, from January 2010 to October 2021. Patients were identified with ICD code 171.3 (rAAA). The STS was defined as (1) abdominal pain, (2) syncope and (3) the finding of a pulsatile abdominal mass, the prevalence of STS was investigated. An expanded triad included similar and related signs commonly registered for patients with rAAA, and was referred to as the modified abdominal aortic aneurysm rupture signs (MARS). The MARS-signs encompassed (1) the registered pain-associated symptoms or signs, (2) all hypovolemic associated signs, and (3) pulsatile abdominal mass and/or ultrasound finding, and the prevalence was similarly investigated. Finally, the STS and MARS were compared to evaluate the usefulness and performance of the MARS-score. Results: A total of 216 patients were identified. The majority were men (77%) with a median age of 78 years. The dominating symptom was abdominal pain (84%), followed by dizziness (50%). Few patients presented with three STS (13%), two STS were found in 37% and one STS in almost half of the patients (41%). By contrast, when applying MARS 35% presented with the complete expanded triad, 47% with two and 17% with one. Comparison of accuracy favored MARS (13 vs. 35% with 3 signs, P < 0.001 for STS vs. MARS) (2 or 3 signs, 48 vs. 82% STS vs. MARS, P < 0.001). Conclusions: The expanded MARS-signs could aid in easier and faster identification of rAAA patients, thus facilitating the first step with accurate diagnosis into the lifesaving rAAA care chain. Supportive diagnostic mnemonics and tools are especially important when targeting fatal diagnoses such as rAAA. Further studies are needed to investigate the implementation of the MARS-signs in various clinical settings. [ABSTRACT FROM AUTHOR]