Volume 11, Issue 2

Clinicians employ two main cognitive approaches for diagnoses, depending on their expertise. Novices typically use linear hypothetico-deductive methods, while experts rely more on intuitive pattern recognition. These closely correspond to System 1 and System 2 thinking described in behavioral economics. We propose that complex cases additionally require the cognitive skill of synthesis, to visualize and understand the connections between various elements. To illustrate the concept, we describe a 60-year-old individual with a 6 h history of chest pain, fever, cough, accompanying chronic heart failure, atrial fibrillation, COPD, thyrotoxicosis, and ischemic heart disease. Faced with such a scenario, a bedside approach adapted by clinicians is to generate a list of individual diagnoses or pathways of pathogenesis, and address them individually. For example, this cluster could include: smoking causing COPD, IHD leading to chest pain and heart failure, and thyrotoxicosis causing atrial fibrillation (AF). However, other interconnections across pathways could be considered: smoking contributing to IHD; COPD exacerbating heart failure; IHD and pneumonia triggering atrial fibrillation; thyrotoxicosis and AF, independently worsening heart failure; COPD causing hypoxemia and worsening ventricular function. The second cluster of explanation offers a richer network of relationships and connections across disorders and pathways of pathogenesis. This cognitive process of creatively identifying these relationships is synthesis, described in Bloom’s taxonomy of the cognitive domain. It is a crucial skill required for visualizing a comprehensive and holistic view of a patient. The concept of synthesis as a cognitive skill in clinical reasoning warrants further exploration.

Objectives Cognitive load is postulated to be a significant factor in clinical reasoning performance. Monitoring physiologic measures, such as heart rate variability (HRV) may serve as a way to monitor changes in cognitive load. The pathophysiology of why HRV has a relationship to cognitive load is unclear, but it may be related to blood pressure changes that occur in a response to mental stress. Methods Fourteen residents and ten attendings from Internal Medicine wore Holter monitors and watched a video depicting a medical encounter before completing a post encounter form used to evaluate their clinical reasoning and standard psychometric measures of cognitive load. Blood pressure was obtained before and after the encounter. Correlation analysis was used to investigate the relationship between HRV, blood pressure, self-reported cognitive load measures, clinical reasoning performance scores, and experience level. Results Strong positive correlations were found between increasing HRV and increasing mean arterial pressure (MAP) (p=0.01, Cohen’s d=1.41). There was a strong positive correlation with increasing MAP and increasing cognitive load (Pearson correlation 0.763; 95 % CI [; 95 % CI [−0.364, 0.983]). Clinical reasoning performance was negatively correlated with increasing MAP (Pearson correlation −0.446; 95 % CI [−0.720, −0.052]). Subjects with increased HRV, MAP and cognitive load were more likely to be a resident (Pearson correlation −0.845; 95 % CI [−0.990, 0.147]). Conclusions Evaluating HRV and MAP can help us to understand cognitive load and its implications on trainee and physician clinical reasoning performance, with the intent to utilize this information to improve patient care.

Objectives Diagnostic management teams (DMT) are groups of experts with specialized knowledge to guide test selection and interpretation of results. They have been active in institutions over the past 20 years. To date, there are limited data on whether the presence of experts to advise healthcare providers on appropriate laboratory test selection and interpretation of complex test results positively impacts patient care. Methods A retrospective study at a regional healthcare system with 257,000 patient encounters between 2011 and 2022 reviewing test interpretations provided by clinical laboratory experts on a diagnostic management team. Results Cases reviewed by the coagulation DMT were 6 times more likely to have an established, scientifically based diagnosis compared to those without a DMT. Patients who have a coagulation DMT review were twice as likely to receive a diagnosis vs. having no diagnosis. Conclusions This study demonstrates that for several objective clinical outcomes, specifically diagnostic conclusions and length of stay, a DMT of coagulation experts assessing patients’ test results has had a major impact on outcomes and delivery of care.

Objectives Perform a pilot study of online game-based learning (GBL) using natural frequencies and feedback to teach diagnostic reasoning. Methods We conducted a multicenter randomized-controlled trial of computer-based training. We enrolled medical students, residents, practicing physicians and nurse practitioners. The intervention was a 45 min online GBL training vs. control education with a primary outcome of score on a scale of diagnostic accuracy (composed of 10 realistic case vignettes, requesting estimates of probability of disease after a test result, 0–100 points total). Results Of 90 participants there were 30 students, 30 residents and 30 practicing clinicians. Of these 62 % (56/90) were female and 52 % (47/90) were white. Sixty were randomized to GBL intervention and 30 to control. The primary outcome of diagnostic accuracy immediately after training was better in GBL (mean accuracy score 59.4) vs. control (37.6), p=0.0005. The GBL group was then split evenly (30, 30) into no further intervention or weekly emails with case studies. Both GBL groups performed better than control at one-month and some continued effect at three-month follow up. Scores at one-month GBL (59.2) GBL plus emails (54.2) vs. control (33.9), p=0.024; three-months GBL (56.2), GBL plus emails (42.9) vs. control (35.1), p=0.076. Most participants would recommend GBL to colleagues (73 %), believed it was enjoyable (92 %) and believed it improves test interpretation (95 %). Conclusions In this pilot study, a single session with GBL nearly doubled score on a scale of diagnostic accuracy in medical trainees and practicing clinicians. The impact of GBL persisted after three months.

Objectives Practice-based learning and improvement (PBLI) is an ACGME (Accreditation Council for Graduate Medical Education) core competency. Learning and reflecting on patients through follow-up is one method to help achieve this competency. We therefore designed a study evaluating a structured patient follow-up intervention for senior internal medicine (IM) residents at the University of Colorado Hospital (UCH). Methods Trainees completed structured reflections after performing chart review of prior patients during protected educational time. Two-month follow-up surveys evaluated the exercise’s potential influence on clinical and reflective practices. Results Forty out of 108 (37 %) eligible residents participated in the exercise. Despite 62.5 % of participants lacking specific questions about patient outcomes before chart review, 81.2 % found the exercise at least moderately helpful. 48.4 % of participants believed that the review would change their practice, and 60.9 % felt it reinforced their existing clinical practices. In our qualitative data, residents learned lessons related to challenging clinical decisions, improving transitions of care, the significance of early goals of care conversations, and diagnostic errors/strategies. Conclusions Our results indicate that IM residents found a structured patient follow-up intervention educational, even when they lacked specific patient outcomes questions. Our results underscore the importance of structured self-reflection in the continuous learning process of trainees and suggest the benefit of dedicated educational time for this process.

Objectives The aims of this retrospective study were to evaluate the clinical applicability of the latest International Society for the Study of Vulvovaginal Disease (ISSVD) and International Federation for Cervical Pathology and Colposcopy (IFCPC) terminology for vulvar diseases, and to explore a new evaluation flow to optimize decision-making on diagnosis. Methods A total of 1,068 patients with 5,340 qualified vulvar images were evaluated by observers using 2011 ISSVD and 2011 IFCPC terminology systems. The sensitivity, specificity, positive predictive value, negative predictive value, Youden Index and Overall Diagnostic Value (ODV) were calculated for each finding in the two systems. Then the disease diagnosis order and a diagnosis flow draft (DFD) were obtained. Results A total of 15 kinds of vulvar diseases were diagnosed. The proportion of patients accompanied with cervical or vaginal intraepithelial neoplasia was highest (83.3 %) in vulvar Paget’s disease group (p<0.001). Total area of lesions was larger in vulvar Paget’s disease, lichen simplex chronicus and lichen sclerosus group (p<0.001). Among the top five findings of ODV, some findings inferred several (≥6) kinds of diseases, while some findings only exist in a certain disease. When the DFD was used, the agreement between the initial impression and histopathology diagnosis was 68.8 %, higher than those when ISSVD an IFCPC terminology systems used (p=0.028), and it didn’t change with the experience of the observer (p=0.178). Conclusions Based on the findings in ISSVD and IFCPC terminology systems, we explored a DFD for observers with different experience on the detection of vulvar disease.

Objectives We have analyzed the association of delayed both diagnosis and treatment of persons with MS with the long-term results of patients given autologous hematopoietic stem cell transplantation (aHSCT). Methods Patients with MS referred to the HSCT-Mexico program were included in the study; in 103, detailed pre- and post-transplant evolution could be recorded. Two groups of patients were analyzed according to the time of evolution between the onset of symptoms and the definite diagnosis of MS: more than 8 months (delayed diagnosis, DD), or less than 8 months (non-delayed diagnosis, NDD). The progression of MS was assessed by changes in the expanded disability status scale (EDSS). Results The time elapsed between the onset of symptoms and the correct diagnosis was lower for the NDD group (1.55 vs. 35.87 months, p<0.05). Both groups of patients showed a similar EDSS score at diagnosis (1.5 vs. 1.5); however, the EDSS at the time of the transplant was higher in the DD group (4.5 vs. 3.0, p=0.3) and the response of the EDSS score to the transplant was significantly better for the NDD group, the last EDSS scores being 2.5 vs. 4.25 (p=0.03). Both groups of patients responded to aHSCT by diminishing the EDSS, but the response was significantly better in the NDD group. Conclusions These data indicate that both the pre-transplant progression of the disease and the response to aHSCT were significantly worse in the DD group. An early diagnosis and an early aHSCT intervention are critical for a good prognosis, in terms of lowering and stabilizing the motor disability in MS patients given autografts.

Objectives Troponin testing is indicated in the diagnostic work-up of acute coronary syndrome (ACS) and incorporated in risk stratification pathways. This study aims to gain insights on the use, outcomes, and diagnostic accuracy of troponin testing in routine primary care; a setting that is understudied. Methods Routine data were used from the academic primary care network in the Amsterdam metropolitan area (968,433 patient records). The study population included adult patients who underwent high-sensitivity troponin I or T (hs-TnI/T) testing between 2011 and 2021. The primary outcome was the reported diagnosis and the secondary outcome was the diagnostic accuracy measured by death or ACS at 30 days. Results 3,184 patients underwent hs-troponin testing, either with hsTNT (n=2,333) or hsTNI (n=851). Median patients’ age was 55 (44–65) years, and 62.3 % were female. Predominant symptoms were chest pain and dyspnea (56.7 %). Additional diagnostic laboratory tests were commonly performed (CRP: 47.7 %, natriuretic peptides: 25.6 %, d-dimer: 21.5 %). Most common diagnoses were musculoskeletal symptoms (21.6 %) and coronary heart disease (7.1 %; 1.1 % ACS). Troponin testing showed sensitivity and specificity of 77.8 % (60.9–89.9) and 94.3 % (93.5–95.1), respectively. Negative and positive predictive values were 99.7 (99.5–99.9) and 13.5 (11.1–16.4), and positive and negative likelihood ratios were 13.7 (10.9–17.1) and 0.24 (0.13–0.43). Conclusions GPs occasionally use troponin testing in very low-risk patients, often as part of a multi-marker rule-out strategy. The diagnostic characteristics of troponin tests, while promising, warrant prospective validation and implementation to facilitate appropriate use.

Objectives Outpatient health care facilities are essential for quickly diagnosing common infectious diseases such as bacterial and viral pharyngitis. The only form of pharyngitis requiring antibiotics is strep throat (ST); however, antibiotic prescription rates are much higher than ST prevalence, suggesting antibiotics are being inappropriately prescribed. Current rapid ST diagnostics may be contributing to this problem due to the low sensitivity and variable specificity of these tests. It is best practice to verify a negative ST diagnosis with a group A Streptococcus (GAS) culture, but many clinics do not perform this test due to the additional cost and 24–72 h required to obtain results. This indicates there is great need for more accurate rapid diagnostic tools in outpatient facilities. We hypothesized that next generation qPCR technology could be adapted to detect GAS DNA from saliva samples (instead of the traditional throat swab) by creating a simple, fast, and inexpensive protocol. Methods Saliva specimens collected from patients at James Madison University Health Center were used to test the effectiveness of our Chelex 100-based rapid DNA extraction method, followed by a fast protocol developed for the Open qPCR machine to accurately detect ST. Results Our final saliva processing and qPCR protocol required no specialized training to perform and was able to detect ST with 100 % sensitivity and 100 % specificity (n=102) in 22–26 min, costing only $1.12 per sample. Conclusions Saliva can be rapidly analyzed via qPCR for the accurate and inexpensive detection of ST.

Objectives Diagnostic uncertainty is not reliably communicated to patients and caregivers. This study aims to identify barriers and facilitators to effective communication of diagnostic uncertainty, including development of potential tools and strategies for improvement, as perceived by healthcare professionals and caregivers. Methods We completed structured interviews with providers and caregivers of hospitalized children with uncertain diagnoses (UD). The interview guides addressed barriers to communication, key components for communication of uncertainty, and qualities of effective communication. The interviews concluded with respondents prioritizing potential interventions to improve communication of uncertainty. Interviews were audio recorded, transcribed, and independently analyzed by two team members to identify common themes. Results Ten provider and five caregiver interviews were conducted. Common barriers to communication of uncertainty included time constraints, language barriers, and lack of clear definition of UD. Caregiver suggestions for improvement included sharing expectations of the diagnostic process and use of both written and visual communication tools. Interview respondents favored interventions of a sign summarizing the key components of diagnostic uncertainty for display in patient rooms and a structured diagnostic pause during daily rounds. Conclusions We identified several potential interventions that may enhance communication of diagnostic uncertainty and better engage patients and caregivers in the diagnostic process.

Objectives Diagnostic errors pose a significant risk to patient safety and have substantial medical and economic consequences. Despite their importance, diagnostic error education is currently lacking in standard pre-graduate curricula. This study aimed to investigate the incidence of diagnostic errors and the frequency of recognition among medical students in Japan. Methods A pilot survey was conducted immediately after the General Medicine In-Training Examination (GM-ITE), a comprehensive post-graduation test, administered to new residents right after graduation from medical school. The survey assessed whether they received education on diagnostic errors during their formal undergraduate medical education and whether they recognized diagnostic errors during their clinical training. Results Of the 564 examinees, 421 participated in the study. The majority of participants (63.9 %) reported receiving education on diagnostic errors, and 15.7 % recognized diagnostic errors during their clinical training. Significantly, those who received education on diagnostic errors had a higher rate of recognizing such errors compared to those who did not (19.7 vs. 8.6 %; p=0.0017). Conclusions These findings suggest that the recognition rate of diagnostic errors increases with improved literacy in diagnostic error education. This highlights the importance of incorporating diagnostic error education into medical curricula to develop effective strategies to prevent and manage diagnostic errors, and thereby enhance medical and patient safety. However, this study did not examine the specific educational content of the errors or the details of the recognition, necessitating further investigation in the future.

We have planned this analysis to provide current statistics on mortality directly caused by Influenza viruses in recent years in the US. We performed an electronic search in the online database CDC WONDER to obtain current statistics on direct mortality caused by Influenza viruses in the US. Mortality data are derived from information on all death certificates issued in the 50 states and the District of Columbia, excluding deaths of nonresidents. Our basic query criteria included Influenza-specific ICD-10 codes. Influenza caused an average of 7,670 deaths per year from 2018 to 2020 based on Influenza-specific ICD-10 codes, with a corresponding mean death rate of 2.3 × 100,000. The death rate increased in parallel with the age of the US resident population, from 0.2 × 100,000 in the 5–24 age group to 37.4 × 100,000 in US residents aged 85 years or older. No substantial differences were observed in males vs. females. The results of this analysis show that Influenza remains a significant clinical burden in the general population, with a cumulative mortality rate of approximately 2.3 × 100,000, but increasing more than tenfold (to over 37 × 100,000) in older persons.

Objectives Limitations in human cognition commonly result in clinical reasoning failures that can lead to diagnostic errors. A metacognitive structured reflection on what clinical findings fit and/or do not fit with a diagnosis, as well as how discordance of data can help advance the reasoning process, may reduce such errors. Case presentation A 60-year-old woman with Hashimoto thyroiditis, diabetes, and generalized anxiety disorder presented with diffuse arthralgias and myalgias. She had been evaluated by physicians of various specialties and undergone multiple modalities of imaging, as well as a electromyography/nerve conduction study (EMG/NCS), leading to diagnoses of fibromyalgia, osteoarthritis, and lumbosacral plexopathy. Despite treatment for these conditions, she experienced persistent functional decline. The only definitive alleviation of her symptoms identified was in the few days following intra-articular steroid injections for osteoarthritis. On presentation to our institution, she appeared fit with a normal BMI. She was a long-time athlete and had been training consistently until her symptoms began. Prediabetes had been diagnosed the year prior and her A 1c progressed despite lifestyle modifications and 10 pounds of intentional weight loss. She reported fatigue, intermittent nausea without emesis, and reduced appetite. Examination revealed intact strength and range of motion in both the shoulders and hips, though testing elicited pain. She had symmetric hyperreflexia as well as a slowed, rigid gait. Autoantibody testing revealed strongly positive serum GAD-65 antibodies which were confirmed in the CSF. A diagnosis of stiff-person syndrome was made. She had an incomplete response to first-line therapy with high-dose benzodiazepines. IVIg was initiated with excellent response and symptom resolution. Conclusions Through integrated commentary on the diagnostic reasoning process from clinical reasoning experts, this case underscores the importance of frequent assessment of fit along with explicit explanation of dissonant features in order to avoid misdiagnosis and halt diagnostic inertia. A fishbone diagram is provided to visually demonstrate the major factors that contributed to the diagnostic error. The case discussant demonstrates the power of iterative reasoning, case progression without commitment to a single diagnosis, and the dangers of both explicit and implicit bias. Finally, this case provides clinical teaching points in addition to a pitfall, myth, and pearl specific to overcoming diagnostic inertia.

Objectives Lung cancer is the leading cause of cancer-related death and poses significant challenges in diagnosis and management. Although muscle metastases are exceedingly rare and typically not the initial clinical manifestation of neoplastic processes, their recognition is crucial for optimal patient care. Case presentation We present a case report in which we identify the unique scenario of a 60-year-old man with shoulder pain and a deltoid muscle mass, initially suggestive of an undifferentiated pleomorphic sarcoma. However, further investigations, including radiological findings and muscle biopsy, revealed an unexpected primary lung adenocarcinoma. We performed a systematic literature search to identify the incidence of SMM and reflect on how to improve and build on better diagnosis for entities as atypical as this. This atypical presentation highlights the importance of recognizing and addressing cognitive biases in clinical decision-making, as acknowledging the possibility of uncommon presentations is vital. By embracing a comprehensive approach that combines imaging studies with histopathological confirmation, healthcare providers can ensure accurate prognoses and appropriate management strategies, ultimately improving patient outcomes. Conclusions This case serves as a reminder of the need to remain vigilant, open-minded, and aware of cognitive biases when confronted with uncommon clinical presentations, emphasizing the significance of early recognition and prompt evaluation in achieving optimal patient care.