Diagnosis最新文献

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.

Introduction: 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.

Discussion: 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.

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: To describe rare genetic interactions of α-thalassemia alleles causing Hb H disease and Hb Bart's hydrops fetalis which could lead to diagnostic errors in a routine practice.

Methods: Hematological and molecular characterization were carried out in a Thai family with a risk of having fetus with Hb Bart's hydrops fetalis.

Results: Both parents were found to be the thalassemia intermedia patients associated with unusual forms of Hb H disease. DNA analysis of common α-thalassemia mutations in Thailand identified α⁺-thalassemia (-α^{3.7 kb del}) and unknown α⁰-thalassemia in the father and α⁰-thalassemia (--^SEA) with unknown α⁺-thalassemia in the mother. Fetal DNA analysis unlikely identified a homozygosity for α⁰-thalassemia (--^SEA/--^SEA). Further analysis identified that the father carried a rare South African α⁰-thalassemia in combination with α⁺-thalassemia (--^SA/-α), whereas the mother was a patient with Hb H-Queens Park disease (--^SEA/αα^QP). The fetus was, in fact, a compound heterozygote for (--^SA/--^SEA).

Conclusions: As shown in this study, routine screening for α-thalassemia at prenatal diagnosis in the region should include both common and rare α⁰-thalassemia alleles found in the population to effectively prevent a fatal condition of Hb Bart's hydrops fetalis syndrome.

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.

Diagnostic errors comprise the leading threat to patient safety in healthcare today. Learning how to extract the lessons from cases where diagnosis succeeds or fails is a promising approach to improve diagnostic safety going forward. We present up-to-date and authoritative guidance on how the existing approaches to conducting root cause analyses (RCA's) can be modified to study cases involving diagnosis. There are several diffierences: In cases involving diagnosis, the investigation should begin immediately after the incident, and clinicians involved in the case should be members of the RCA team. The review must include consideration of how the clinical reasoning process went astray (or succeeded), and use a human-factors perspective to consider the system-related contextual factors in the diagnostic process. We present detailed instructions for conducting RCA's of cases involving diagnosis, with advice on how to identify root causes and contributing factors and select appropriate interventions.

Objectives: Diagnostic excellence underscores the patient-centered diagnosis and patient engagement in the diagnostic process. In contrast to a patient-centered diagnosis, a doctor-centered diagnosis with a lack of patient engagement may inhibit the diagnostic process due to the lack of responsibility, disrupted information, and increased effect of cognitive biases, particularly in a situation where multiple physicians are involved. In this paper, we suggest a promising idea to enhance patient engagement in the diagnostic process by using written information by a patient about their perspective and experience, which can fill the gaps needed for diagnosis that doctors cannot find alone.

Case presentation: A 38-year-old woman developed chest pain, which gradually worsened during the following two years. For two years, she was evaluated in multiple departments; however, no definitive diagnosis was made, and her condition did not improve. During this evaluation, she searched her symptoms and image findings online. She reached a possible diagnosis of 'esophageal achalasia.' Still, she could not tell her concerns to any physicians because she felt that her concerns were not correctly recognized, although she showed her notes that her symptoms were recorded. She finally consulted the department of internal medicine, where her notes and previous test results were thoroughly reviewed. The final diagnosis of esophageal achalasia was confirmed.

Conclusions: Doctors must organize an environment where patients can freely express their thoughts, emotions, and ideas regarding their diagnosis. Cogenerating visit notes using patient input through written communication can be a promising idea to facilitate patient engagement in the diagnostic process.

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.

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.