Band 12, Heft 1

Introduction Neurotrauma is the leading cause of death in individuals <45 years old. Many of the published articles on UCHL1 and GFAP lack rigorous methods and reporting. Content Due to the high heterogeneity between studies, we evaluated blood GFAP and UCHL1 levels in the same subjects. We determined the biomarker congruence among areas under the ROC curves (AUCs), sensitivities, specificities, and laboratory values in ng/L to avoid spurious results. The definitive meta-analysis included 1,880 subjects in eight studies. The items with the highest risk of bias were as follows: cut-off not prespecified and case-control design not avoided. The AUC of GFAP was greater than the AUC of UCHL1, with a lower prediction interval (PI) limit of 50.1 % for GFAP and 37.3 % for UCHL1, and a significantly greater percentage of GFAP Sp. The PI of laboratory results for GFAP and UCHL1 were 0.517–7,518 ng/L (diseased), 1.2–255 ng/L (nondiseased), and 3–4,180 vs. 3.2–1,297 ng/L, respectively. Summary Only the GFAP positive cut-off (255 ng/L) appears to be reliable. The negative COs appear unreliable. Outlook GFAP needs better standardization. However, the AUCs of the phospho-Tau and phospho-Tau/Tau proteins resulted not significantly lower than AUC of GFAP, but this result needs further verifications.

Dynamic teaming is required whenever people must coordinate with one another in a fluid context, particularly when the fundamental structures of a team, such as membership, priorities, tasks, modes of communication, and location are in near-constant flux. This is certainly the case in the contemporary ambulatory care diagnostic process, where circumstances and conditions require a shifting cast of individuals to coordinate dynamically to ensure patient safety. This article offers an updated perspective on dynamic teaming commonly required during the ambulatory diagnostic process. Drawing upon team science, it clarifies the characteristics of dynamic diagnostic teams, identifies common risk points in the teaming process and the practical implications of these risks, considers the role of providers and patients in averting adverse outcomes, and provides a case example of the challenges of dynamic teaming during the diagnostic process. Based on this, future research needs are offered as well as clinical practice recommendations related to team characteristics and breakdowns, team member knowledge/cognitions, teaming dynamics, and the patient as a team member.

The ambulatory diagnostic process is potentially complex, resulting in faulty communication, lost information, and a lack of team coordination. Patients and families have a unique position in the ambulatory diagnostic team, holding privileged information about their clinical conditions and serving as the connecting thread across multiple healthcare encounters. While experts advocate for engaging patients as diagnostic team members, operationalizing patient engagement has been challenging. The team science literature links improved team performance with shared mental models, a concept reflecting the team’s commonly held knowledge about the tasks to be done and the expertise of each team member. Despite their proven potential to improve team performance and outcomes in other settings, shared mental models remain underexplored in healthcare. In this manuscript, we review the literature on shared mental models, applying that knowledge to the ambulatory diagnostic process. We consider the role of patients in the diagnostic team and adapt the five-factor model of shared mental models to develop a framework for patient-clinician diagnostic shared mental models. We conclude with research priorities. Development, maintenance, and use of shared mental models of the diagnostic process amongst patients, families, and clinicians may increase patient/family engagement, improve diagnostic team performance, and promote diagnostic safety.

Over the last decades, in addition to the improvement of pathophysiological knowledge regarding the role and mechanisms of action of vitamin D, there has been a progressive advancement in analytical technologies for its measurement, as well as in methodological standardization. A significant number of scientific works, meta-analyses, and guidelines have been published on the importance of vitamin D and the need for supplementation in deficient individuals. However, it appears necessary to clarify the fundamental elements related to the measurement of vitamin D (both at the strictly analytical and post-analytical levels) and the scientific evidence related to the efficacy/safety of supplementation. In particular, there is a need to discuss current recommended levels for deficiency, insufficiency and possible toxicity in the light of evidence from standardization projects. Additionally, given the important interrelations between vitamin D, parathyroid hormone (PTH), and fibroblast growth factor-23 (FGF23), the analytical issues and clinical utility of these biomarkers will be discussed.

Objectives Diagnostic reconciliation is the collaborative process between patients and clinicians to create and reconcile evidence-based, feasible, and desirable care plans. However, the specific components of this process remain unclear. The objective of this study was to develop the first comprehensive framework to elucidate the diagnostic reconciliation process. Methods We followed a multi-step and iterative approach to develop the framework, including a focused systematic review of diagnostic conversations, quantitative evaluation of recordings of real-life clinical visits recordings, and stakeholder engagement (e.g., patients, clinicians, researchers). Results We identified 17 potential components to the process of diagnostic reconciliation through literature review and stakeholder engagement. After review of 56 clinical visits and further stakeholder engagement, we developed a final framework including four categories: 1) understanding the need for a test/referral, 2) logistics of test/referral scheduling, 3) test/referral information, and 4) test/referral results. Conclusions The proposed framework lays the foundation for evaluation and improvement of diagnostic conversations in practice. Clinicians can enhance patient-centered diagnosis by co-creating diagnostic plans of care in practice and using the components described in the novel diagnostic reconciliation framework.

Objectives Educators need tools for the assessment of clinical reasoning that reflect the ambiguity of real-world practice and measure learners’ ability to determine diagnostic likelihood. In this study, the authors describe the use of the Brier score to assess and provide feedback on the quality of probabilistic diagnostic reasoning. Methods The authors describe a novel format called Diagnostic Forecasting (DxF), in which participants read a brief clinical case and assign a probability to each item on a differential diagnosis, order tests and select a final diagnosis. DxF was piloted in a cohort of senior medical students. DxF evaluated students’ answers with Brier scores, which compare probabilistic forecasts with case outcomes. The validity of Brier scores in DxF was assessed by comparison to subsequent decision-making in the game environment of DxF, as well as external criteria including medical knowledge tests and performance on clinical rotations. Results Brier scores were statistically significantly correlated with diagnostic accuracy (95 % CI −4.4 to −0.44) and with mean scores on the National Board of Medical Examiners (NBME) shelf exams (95 % CI −474.6 to −225.1). Brier scores did not correlate with clerkship grades or performance on a structured clinical skills exam. Reliability as measured by within-student correlation was low. Conclusions Brier scoring showed evidence for validity as a measurement of medical knowledge and predictor of clinical decision-making. Further work must evaluated the ability of Brier scores to predict clinical and workplace-based outcomes, and develop reliable approaches to measuring probabilistic reasoning.

Objectives 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. Materials and Methods 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. Results 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. Conclusions 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.

Objectives 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. Methods 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. Results 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. Conclusions 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.

Objectives Time pressure and time constraints have been shown to affect diagnostic accuracy, but how they interact is not clear. The current study aims to investigate the effects of both perceived time pressure (sufficient vs. insufficient time) and actual time constraints (lenient vs. restricted time limit) with regard to diagnostic accuracy. Methods Residents from two university-affiliated training programs in the USA participated in this online within-subjects experiment. They diagnosed cases under two perceived time pressure conditions: one where they were told they had sufficient time to diagnose the cases and one where they were told they had insufficient time. The actual time limit was either restricted or lenient (± one standard deviation from the mean time to diagnose). Participants provided their most likely diagnosis and a differential diagnosis for each case, and rated their confidence in their most likely diagnosis. Results A restricted time limit was associated with lower accuracy scores (p=0.044) but no effects of perceived time pressure on diagnostic accuracy were found. However, participants self-reported feeling more time pressure when they thought they had insufficient time (p<0.001). In addition, there was an effect of the actual time limit (p=0.012) and perceived time pressure (p=0.048) on confidence. Conclusions This study showed that a restricted time limit can negatively affect diagnostic accuracy. Although participants felt more time pressure and were less confident when they thought they had insufficient time, perceived time pressure did not affect diagnostic accuracy. More research is needed to further investigate the effects of time pressure and time limits on diagnostic accuracy.

Objectives Diagnostic imaging decision support (DI-DS) system has emerged as an innovative evidence-based solution to decrease inappropriate diagnostic imaging. The aim of the present study was to design and evaluate a DI-DS system for cerebrovascular diseases. Methods The present study was an applied piece of research. First, the conceptual model of the DI-DS system was designed based on its functional and non-functional requirements. Afterwards, to create the system’s knowledge base, cerebrovascular diseases diagnostic imaging algorithms were extracted from the American College of Radiology Appropriateness Criteria (ACR-AC). Subsequently, the system was developed based on the obtained conceptual model and the extracted algorithms. The software was programmed by means of the C#. After debugging the system, it was evaluated regarding its performance and also the users’ satisfaction with it. Results Assessing the users’ satisfaction with the system demonstrated that all the evaluation criteria met the acceptable threshold (85 %). The retrospective evaluation of the system’s performance indicated that from among 76 imaging examinations, which had previously been performed for 30 patients, 12 (15.78 %) were deemed inappropriate. And, the system accurately identified all the inappropriate physicians’ decisions. The concurrent evaluation of the system’s performance indicated that the system’s recommendations helped the physicians remove 100 % (4 out of 4) of the inappropriate and 40 % (2 out of 5) of the inconclusive imaging examinations from their initial choices. Conclusions A DI-DS system could increase the compliance of the physicians’ decisions with diagnostic imaging guidelines, and also improve treatment outcomes through correct diagnosis and providing timely care.

Objectives This paper aims to identify and address gaps in cancer treatment and diagnosis within European health services, focusing specifically on discrepancies between clinical guidelines and policy guidelines. It seeks to highlight how the underutilization of advanced diagnostic techniques recommended by medical societies contributes to missed opportunities for improving patient outcomes. Methods A comprehensive analysis was conducted across multiple European countries to assess the compliance and integration of clinical guidelines with the availability of advanced diagnostic technologies. Secondary data related to clinical and policy guidelines in cancer care were collected and analyzed. Key indicators of adoption and utilization of next-generation sequencing and liquid biopsy were examined to evaluate their impact on health service efficiency and patient care. Results The analysis revealed significant discrepancies between the recommendations of medical societies regarding advanced diagnostic techniques and their adoption in health policy decisions across Europe. Country-specific assessments indicated varying levels of alignment between clinical guidelines and the availability of advanced diagnostics. These findings underscored missed opportunities for optimizing patient care and health service efficiency through better alignment and integration of clinical guidelines with policy decisions. Conclusions This study concludes that there is a critical need for health policy decision-makers to prioritize the adoption of clinical guidelines in resource allocation and health service organization. Greater attention to the recommendations of medical societies regarding advanced diagnostic techniques could significantly enhance diagnostic accuracy, treatment efficacy, and overall patient outcomes in cancer care. The paper advocates for policy reforms that acknowledge and leverage the potential benefits of advanced diagnostics in improving health service performance and patient-centered care across Europe.

Objectives The aim of the present study was to assess the effect of repeated laboratory measurement of C-reactive protein (CRP) and leukocyte count on the decision whether to admit or dicharge the patient with localized infections who received antibiotics at the Emergency Department (ED) observation unit. Methods Adult patients with respiratory, urinary tract and abdominal infections, observed at the ED after antibiotic administration, in whom repeated measurements of CRP and leukocyte count were performed within 24 h, were included. They were initially grouped as planned discharge, planned admission and unclear attitude towards admission. Initial and repeated CRP and leukocyte count results, clinical dynamics (improvement, worsening, unchanged) and clinical decision about discharge or admission, were recorded. Results A total of 1,038 patients were eligible for inclusion. No significant differences in initial CRP and leukocyte count values were observed, nor any association of CRP and leukocyte count changes with clinical dynamics. Among 504 patients eligible for discharge at second laboratory sampling according to clinical dynamics, 54.4 % were further observed or admitted. Discharged patients had an average negative absolute (p<0.001) and relative CRP change (p=0.002). Clinical dynamics, first and second CRP results and absolute CRP change were independently associated with the decision to discharge or further observe/admit. Conclusions Schematic repetitions of CRP and leukocyte count at the ED observation unit are common, regardless of patients’ clinical condition. Clinical judgment remains the main guiding factor to admit or discharge the patient, but repeated CRP testing influences the final decision, contributing to higher admission rates.

Objectives Quality control of ultrasonography markers is necessary to ensure greater efficacy of prenatal aneuploidy screening. The aim of this study was to assess the quality of the crown-rump length (CRL) and nuchal translucence (NT) measurement accuracy by the laboratory according to quality indicators. Methods Retrospective observational study on 4,908 single-foetus pregnant women who underwent prenatal aneuploidy screening in the first trimester of pregnancy. Euploid foetuses with CRL between 45 and 84 mm were included, while those with NT≥3.5 mm were excluded. CRL measurement was considered to be accurate if the median multiples of the median (MoM) for pregnancy-associated plasma protein A (PAPP-A) was between 0.90 and 1.10. Fifteen sonographers participated in the study, six of whom comprised the control group. Systematic error for a sonographer was considered when CRL measurement was greater than ±2 mm with respect to the control group. Quality for NT was assured by means of the WHIRI method and each sonographer cumulative sum control chart (CUSUM). Results For CRL accuracy, five sonographers underestimated the measurements, while another four overestimated them, with no statistical differences. For smaller sized foetuses, all sonographers met the established specifications. Regarding NT control, three sonographers did not meet the quality criteria for the median MoM. All sonographers met the specifications for the logarithmic standard deviation of the NT MoM levels. Thirteen sonographers met the CUSUM specifications. Conclusions Evaluation of a quality control of ultrasonography parameters by laboratory professionals is necessary to avoid under- or overestimation tendencies for CRL and NT measurements. CUSUM is a useful tool for the immediate correction of errors in NT measurements.

Objectives Analytical interferences, caused by antibodies, often go unnoticed and require a deep understanding of analyzer principles in the correct clinical context. Methods A case report details a 56-year-old man with symptoms of hyperviscosity syndrome (HVS) due to multiple myeloma. Results The DxH 900 analyzer revealed abnormalities in the nucleated red blood cell (nRBC) graph, attributed to a high concentration of IgA kappa. Immediate plasmapheresis successfully treated HVS, reducing the monoclonal component and eliminating the aberrant green signal. Conclusions In the appropriate clinical context, the recognition of analytical interferences is necessary for accurate clinical interpretation, and it is only possible with knowledge of the analytical principles of the instruments. In this case, the high concentration of IgA kappa generated an aberrant green signal in the VCSm.

Objectives Clinicians can rapidly and accurately diagnose disease, learn from experience, and explain their reasoning. Computational Bayesian medical decision-making might replicate this expertise. This paper assesses a computer system for diagnosing cardiac chest pain in the emergency department (ED) that decides whether to admit or discharge a patient. Methods The system can learn likelihood functions by counting data frequency. The computer compares patient and disease data profiles using likelihood. It calculates a Bayesian probabilistic diagnosis and explains its reasoning. A utility function applies the probabilistic diagnosis to produce a numerical BAYES score for making a medical decision. Results We conducted a pilot study to assess BAYES efficacy in ED chest pain patient disposition. Binary BAYES decisions eliminated patient observation. We compared BAYES to the HEART score. On 100 patients, BAYES reduced HEART’s false positive rate 18-fold from 58.7 to 3.3 %, and improved ROC AUC accuracy from 0.928 to 1.0. Conclusions The pilot study results were encouraging. The data-driven BAYES score approach could learn from frequency counting, make fast and accurate decisions, and explain its reasoning. The computer replicated these aspects of diagnostic expertise. More research is needed to reproduce and extend these finding to larger diverse patient populations.

Objectives To present and discuss an uncommon clinical presentation of hyperthyroidism in a female patient with Chiari type 1 malformation. We explore how her medical history influenced the diagnostic process and ultimately contributed to the delayed diagnosis. Case presentation In this case study, we discuss an unusual presentation of hyperthyroidism in a 35-year-old female with Chiari type 1 malformation. Initially experiencing headaches, tremors, and dizziness, the patient consulted multiple specialists without a clear diagnosis. Later, she developed recurrent vomiting unrelated to food intake, significant weight loss (12 kg), and muscle weakness, leading to her hospitalization. After six months of clinical evaluation with several specialists (neurologists, neurosurgeons, and gastroenterologists), she was, finally, diagnosed with hyperthyroidism by an Internal Medicine physician in another private clinic. Treatment with thiamazole and propranolol led to the improvement of symptoms progressively. This case emphasizes the vital role of clinical reasoning, crucial problem-solving, and decision-making processes while addressing cognitive biases in medical specialization. Besides, it highlights the need for internist evaluation in outpatient care to ensure comprehensive assessment and prompt specialist referrals if needed. Conclusions This case accentuates the importance of internist evaluation for comprehensive care and timely specialist referrals. Recognizing unusual presentations, like thyrotoxic vomiting, and addressing cognitive biases, such as confirmation and anchor biases, are crucial for accurate and prompt diagnosis. This approach enhances diagnostic accuracy, minimizing unnecessary tests and costs, and alleviates patient suffering.