Is Myocardial Infarction Overdiagnosed?

This Viewpoint examines whether overdiagnosis rather than underdiagnosis may now be the dominant form of myocardial infarction misdiagnosis.

Discriminative Accuracy of the CAPTURE Tool for Identifying Chronic Obstructive Pulmonary Disease in US Primary Care Settings.

Importance: Chronic obstructive pulmonary disease (COPD) is underdiagnosed in primary care. Objective: To evaluate the operating characteristics of the CAPTURE (COPD Assessment in Primary Care To Identify Undiagnosed Respiratory Disease and Exacerbation Risk) screening tool for identifying US primary care patients with undiagnosed, clinically significant COPD. Design, Setting, and Participants: In this cross-sectional study, 4679 primary care patients aged 45 years to 80 years without a prior COPD diagnosis were enrolled by 7 primary care practice-based research networks across the US between October 12, 2018, and April 1, 2022. The CAPTURE questionnaire responses, peak expiratory flow rate, COPD Assessment Test scores, history of acute respiratory illnesses, demographics, and spirometry results were collected. Exposure: Undiagnosed COPD. Main Outcomes and Measures: The primary outcome was the CAPTURE tool's sensitivity and specificity for identifying patients with undiagnosed, clinically significant COPD. The secondary outcomes included the analyses of varying thresholds for defining a positive screening result for clinically significant COPD. A positive screening result was defined as (1) a CAPTURE questionnaire score of 5 or 6 or (2) a questionnaire score of 2, 3, or 4 together with a peak expiratory flow rate of less than 250 L/min for females or less than 350 L/min for males. Clinically significant COPD was defined as spirometry-defined COPD (postbronchodilator ratio of forced expiratory volume in the first second of expiration [FEV1] to forced vital capacity [FEV1:FVC] <0.70 or prebronchodilator FEV1:FVC <0.65 if postbronchodilator spirometry was not completed) combined with either an FEV1 less than 60% of the predicted value or a self-reported history of an acute respiratory illness within the past 12 months. Results: Of the 4325 patients who had adequate data for analysis (63.0% were women; the mean age was 61.6 years [SD, 9.1 years]), 44.6% had ever smoked cigarettes, 18.3% reported a prior asthma diagnosis or use of inhaled respiratory medications, 13.2% currently smoked cigarettes, and 10.0% reported at least 1 cardiovascular comorbidity. Among the 110 patients (2.5% of 4325) with undiagnosed, clinically significant COPD, 53 had a positive screening result with a sensitivity of 48.2% (95% CI, 38.6%-57.9%) and a specificity of 88.6% (95% CI, 87.6%-89.6%). The area under the receiver operating curve for varying positive screening thresholds was 0.81 (95% CI, 0.77-0.85). Conclusions and Relevance: Within this US primary care population, the CAPTURE screening tool had a low sensitivity but a high specificity for identifying clinically significant COPD defined by presence of airflow obstruction that is of moderate severity or accompanied by a history of acute respiratory illness. Further research is needed to optimize performance of the screening tool and to understand whether its use affects clinical outcomes.

Are there gender-based variations in the presentation of Autism amongst female and male children?

The Questionnaire for Autism Spectrum Conditions (Q-ASC; Attwood, Garnett & Rynkiewicz, 2011) is one of the few screening instruments that includes items designed to assess female-specific ASD-Level 1 traits. This study examined the ability of a modified version of the Q-ASC (Q-ASC-M; Ormond et al., 2018) to differentiate children with and without ASD-Level 1. Participants included 111 parents of autistic children and 212 parents of neurotypical children (5-12 years). Results suggested that the gendered behaviour, sensory sensitivity, compliant behaviours, imagination, and imitation subscales differentiated autistic females from neurotypical females. Compared to autistic males, autistic females had higher scores on gendered behaviour, sensory sensitivity, social masking, and imitation. Results are discussed in relation to early detection of autistic female children.

Stones left unturned: Missed opportunities to diagnose primary hyperparathyroidism in patients with nephrolithiasis.

BACKGROUND: Nephrolithiasis is a sequela of primary hyperparathyroidism and an indication for parathyroidectomy. The prevalence of primary hyperparathyroidism in patients with nephrolithiasis is 3% to 5%; however, recent studies suggest that many hypercalcemic patients with nephrolithiasis never undergo workup for primary hyperparathyroidism. Our goal is to evaluate primary hyperparathyroidism screening rates at a tertiary academic health institution and identify opportunities to increase referral rates in patients presenting with nephrolithiasis. METHODS: We retrospectively reviewed 15,725 patients across an academic health system who presented with nephrolithiasis between 2012 and 2020. Calcium levels measured within 6 months of presentation were identified, and those with hypercalcemia (≥10.3 mg/dL) were reviewed if parathyroid hormone levels were measured. Patients with primary hyperparathyroidism were evaluated to see if they were referred to a specialist for treatment. RESULTS: Of 15,725 patients presenting with nephrolithiasis, 12,420 (79%) had calcium levels measured; 630 patients (4.0%) were hypercalcemic, and 207 (33%) had parathyroid hormone levels measured. Patients were more likely to have parathyroid hormone levels sent if they were older, had higher calcium levels, or presented to an outpatient clinic (P = .028, P = .002, P < .001). We identified 89 patients (0.6%) with primary hyperparathyroidism, of which only 35 (39%) were referred for treatment. CONCLUSION: The proportion of patients presenting with nephrolithiasis ultimately diagnosed with primary hyperparathyroidism was significantly lower than others have reported. Additionally, a substantial number of patients with nephrolithiasis did not have calcium and/or parathyroid hormone levels measured. These missed opportunities for diagnosis are critical as early definitive management of primary hyperparathyroidism can prevent recurrent nephrolithiasis and other primary hyperparathyroidism-related end organ effects.

Multislice Spiral Computed Tomography Postprocessing Technology in the Imaging Diagnosis of Extremities and Joints.

OBJECTIVE: To improve the clinical detection rate of bone and joint fractures of the extremities and to explore the value and significance of the application of multislice spiral computed tomography (MSCT) postprocessing technology in diagnosis. METHODS: 80 patients with bone and joint fractures of the extremities admitted to the hospital were selected as the research objects. The patients received X-ray digital radiography (DR) plain film examination and then MSCT examination. At the same time, multiplane reconstruction (MPR) and surface shadow display (SSD) and volume rendering three-dimensional imaging (VRT) technology and other postprocessing technologies compare the differences in the detection rate of limbs and joint fractures between the two inspection methods. RESULTS: A total of 100 fractures were found in 80 patients. The detection rate of X-ray DR was 69%. After MSCT postprocessing technology, the detection rates of MPR, SSD, and VRT were 96%, 98%, and 99%, respectively. The accuracy of MSCT postprocessing technology in diagnosing extremity bone and joint fractures was significantly higher than that of DR, and the difference between groups was statistically significant. CONCLUSION: MSCT postprocessing technology for patients with extremity bone and joint fractures has a good effect. It is not only noninvasive but also has a high detection rate. It can significantly reduce the missed and misdiagnosed rate and provide detailed imaging data for the formulation of clinical treatment plans.

Medical Image Diagnostic Value of Computed Tomography for Bladder Tumors.

OBJECTIVE: To study computed tomography (CT) imaging characteristics of bladder tumors, to explore the value of CT in tumor diagnosis, and to identify the relevant factors of CT missed diagnosis so that medical staff can be more accurate in the diagnosis of bladder tumors. METHODS: To retrospectively analyze the CT manifestations of 153 bladder tumor cases confirmed by paraffin pathology in our hospital and to study the difference between the benign and CT imaging features. CT indicators mainly include the number, location, morphology, calcification, bladder wall smoothness, CT value, degree of enhancement, and invasion of surrounding tissues and organs. Then, we retrospectively analyze 17 cases of CT missed diagnosis of bladder tumors, analyze related factors, and discuss the role of CT in the diagnosis of bladder tumors. RESULTS: This study has shown that with the help of CT images, the diagnosis rate of bladder tumors has been greatly improved. Of the 153 patients studied, noninvasive urothelial carcinoma accounted for 18.95% of all benign and malignant bladder tumors, invasive urothelial carcinoma accounted for 67.93%, prostatic metastatic carcinoma and inflammatory myofibroblastoma accounted for 8.47%, pheochromocytoma accounted for 1.31%, inverted papilloma accounted for 1.31%, tubular choriocarcinoma accounted for 0.63%, and endocystitis accounted for 1.31%. In addition, the blood supply level, CT index bladder wall smoothness, and CT value are also statistically significant (P < 0.05). CONCLUSIONS: CT is of high value in the diagnosis of bladder tumors, and benign and malignant bladder tumors have CT and CT imaging features. The size of bladder tumors is related to the missed diagnosis rate of CT. The application of CT examination technology can improve the accuracy of diagnosis of bladder tumors.

Standing Ultrasound Adds Clinical Utility for the Diagnosis of Varicoceles.

PURPOSE: We assessed the role of standing vs supine scrotal ultrasound (SUS) for varicocele assessment by evaluating differences in clinical outcomes. MATERIALS AND METHODS: We retrospectively reviewed men from 2008-2020 diagnosed with varicocele who had documented SUS with both supine and standing assessments with and without Valsalva. Clinical outcomes (semen parameters, TUNEL and serum testosterone [T]) after microsurgical varicocelectomy were compared among men who had varicoceles diagnosed by standing SUS (vein size >2.5 mm, vein size >3.0 mm or reversal of flow) to those who would have been missed on supine SUS only. RESULTS: A total of 349 men underwent varicocelectomy (right: 5 [1.4%]; left: 118 [33.8%]; bilateral: 226 [64.8%]). Disagreement between those with abnormal standing vs normal supine for vein size >2.5 mm was: 56 men (16.1%) on the right and 31 men (8.9%) on the left, for vein size >3.0 mm was: 64 men (18.3%) on the right, and 56 men (16.1%) on the left, and for flow reversal was: 36 (14.0%) on the right and 40 (15.4%) on the left. For those >2.5 mm, only T had significant improvements on the left (p=0.05). For those >3.0 mm significant differences were seen for sperm motility on the right (p=0.04), and TUNEL (p=0.04) and T (p <0.01) on the left. For flow reversal, significant differences were seen for sperm concentration (p <0.01), morphology (p=0.03) and volume (p=0.05) on the right and TUNEL on the left (p=0.02). CONCLUSIONS: Standing SUS identifies a greater number of men who would have been missed using supine SUS only.

Improving trauma tertiary survey performance and missed injury identification using an education-based quality improvement initiative.

BACKGROUND: Performance of a trauma tertiary survey (TTS) reduces rates of missed injuries, but performance has been inconsistent at trauma centers. The objectives of this study were to assess whether quality improvement (QI) efforts would increase the frequency of TTS documentation and determine if TTS documentation would increase identification of traumatic injuries. Our hypothesis was that QI efforts would improve documentation of the TTS. METHODS: Before-and-after analysis of QI interventions at a level 1 trauma center was performed. The interventions included an electronic template for TTS documentation, customized educational sessions, and emphasis from trauma leadership on TTS performance. The primary outcome was documentation of the TTS. Detection of additional injuries based on tertiary evaluation was a secondary outcome. Associations between outcomes and categorical patient and encounter characteristics were assessed using χ2 tests. RESULTS: Overall, 592 trauma encounters were reviewed (296 preimplementation and 296 postimplementation). Trauma tertiary survey documentation was significantly higher after implementation of the interventions (30.1% preimplementation vs. 85.1% postimplementation, p < 0.001). Preimplementation documentation of the TTS was less likely earlier in the academic year (14.3% first academic quarter vs. 46.5% last academic quarter, p < 0.001), but this temporal pattern was no longer evident postimplementation (88.5% first academic quarter vs. 77.9% last academic quarter, p = 0.126). Patients were more likely to have a missed traumatic injury diagnosed on TTS postimplementation (1.7% in preimplementation vs. 5.7% postimplementation, p = 0.009). CONCLUSION: Documentation of the TTS and missed injury detection rates were significantly increased following implementation of a bundle of QI interventions. The association between time of year and documentation of the TTS was also attenuated, likely through reduction of the resident learning curve. Targeted efforts to improve TTS performance may improve outcomes for trauma patients at teaching hospitals. LEVEL OF EVIDENCE: Care management, Level IV.

Incidental Findings in the Trauma Population: Interdisciplinary Approach and Electronic Medical Record Reminder Association with Pre-Discharge Reporting and Medicolegal Risk.

BACKGROUND: Incidental findings (IFs) are reported in 20% or more of trauma CT scans. In addition to the importance of patient disclosure, there is considerable legal pressure to avoid missed diagnoses. We reported previously that 63.5% of IFs were disclosed before discharge and with 20% were nondisclosed. We initiated a multidisciplinary systemic plan to effect predischarge disclosure by synoptic CT reports with American College of Radiology recommended follow-up, electronic medical records discharge prompts, and provider education. STUDY DESIGN: Prospective observational series patients from November 2019 to February 2020 were included. Statistical analysis was performed with SPSS, version 21 (IBM Corp). RESULTS: Eight hundred and seventy-seven patients underwent 1 or more CT scans for the evaluation of trauma (507 were male and 370 were female). Mean age of the patients was 57 years (range 14 to 99 years) and 96% had blunt injury. In 315 patients, there were 523 IFs (1.7 per patient); the most common were lung (17.5%), kidney (13%), and liver (11%). Radiology report compliance rate was 84% (210 of 249 patients). There were 66 studies from outside facilities. Sixteen IFs were suspicious for malignancy. A total of 151 patients needed no follow-up and 148 patients needed future follow-up evaluation. Predischarge IF disclosure compliance rate was 90.1% (286 patients); 25 were post discharge. Four patients remained undisclosed. Compared with our previous report, clearer reporting and electronic medical records prompts increased predischarge disclosure from 63.5% to 90.1% (p < 0.01, chi-square test) and decreased days to notification from 29.5 (range 0 to 277) to 5.2 (range 0 to 59) (p < 0.01, Mann-Whitney U test). CONCLUSIONS: Timely, complete disclosure of IFs improves patient outcomes and reduces medicolegal risk. Collaboration among trauma, radiology, and information technology promotes improved disclosure in trauma populations.

The Impact of the Tertiary Survey in an Established Trauma Program.

INTRODUCTION: The trauma tertiary survey (TTS) was first described in 1990 and is recognized as an essential practice in trauma care. The TTS remains effective in detecting secondary injuries in the modern era. METHODS: Trauma patients discharged between August 1, 2016, and December 31, 2016, were identified in our trauma registry. Collected data include TTS completion rates, detection of injuries, type of provider, and timing. TTS documentation was qualitatively evaluated. RESULTS: Out of 407 patients, 264 patients (65%) received a TTS. Injury detection rate was 1.1.%. Average time to TTS was 41 hours. TTS were completed by resident physicians (46%) and advanced practice providers (APPs; 46%). TTS documentation was more complete for APPs than for resident physicians. CONCLUSION: TTS remains an integral component of modern trauma care. Ongoing education on the significance of TTS and the importance of thorough documentation is essential. Provision of real-time feedback to providers is also critical for improving current practices.

Missed diagnosis of imperforate hymen later presenting with hypertension.

An adolescent girl presented with hypertension and was found to have haematocolpos and imperforate hymen. She had a background of chronic abdominal pain and had sought medical attention multiple times prior, with the diagnosis being missed as pubertal evaluation and perineal examination had been neglected during those visits. Hypertension resolved following hymenectomy and drainage of haematocolpos with no long-term sequelae.

Identification of Undetected Monogenic Cardiovascular Disorders.

BACKGROUND: Monogenic diseases are individually rare but collectively common, and are likely underdiagnosed. OBJECTIVES: The purpose of this study was to estimate the prevalence of monogenic cardiovascular diseases (MCVDs) and potentially missed diagnoses in a cardiovascular cohort. METHODS: Exomes from 8,574 individuals referred for cardiac catheterization were analyzed. Pathogenic/likely pathogenic (P/LP) variants associated with MCVD (cardiomyopathies, arrhythmias, connective tissue disorders, and familial hypercholesterolemia were identified. Electronic health records (EHRs) were reviewed for individuals harboring P/LP variants who were predicted to develop disease (G+). G+ individuals who did not have a documented relevant diagnosis were classified into groups of whether they may represent missed diagnoses (unknown, unlikely, possible, probable, or definite) based on relevant diagnostic criteria/features for that disease. RESULTS: In total, 159 P/LP variants were identified; 2,361 individuals harbored at least 1 P/LP variant, of whom 389 G+ individuals (4.5% of total cohort) were predicted to have at least 1 MCVD. EHR review of 342 G+ individuals predicted to have 1 MCVD with sufficient EHR data revealed that 52 had been given the relevant clinical diagnosis. The remaining 290 individuals were classified as potentially having an MCVD as follows: 193 unlikely (66.6%), 50 possible (17.2%), 30 probable (10.3%), and 17 definite (5.9%). Grouping possible, probable, definite, and known diagnoses, 149 were considered to have an MCVD. Novel MCVD pathogenic variants were identified in 16 individuals. CONCLUSIONS: Overall, 149 individuals (1.7% of cohort) had MCVDs, but only 35% were diagnosed. These patients represents a "missed opportunity," which could be addressed by greater use of genetic testing of patients seen by cardiologists.

Missed Opportunities for Timely Recognition of Chronic Limb Threatening Ischaemia in Patients Undergoing a Major Amputation: A Population Based Cohort Study Using the UK's Clinical Practice Research Datalink.

OBJECTIVE: Opportunities for timely recognition of chronic limb-threatening ischaemia (CLTI) within primary care, such as performing cardiovascular assessment during clinical consultation, are possibly being missed. This study aimed to investigate for potential "missed opportunities" within primary care. METHODS: This was a population based cohort study, using the UK's Clinical Practice Research Datalink (CPRD). Patients undergoing a major amputation for CLTI between 1 January 2000 and 31 December 2016 were included. Primary care consultation and patient clinical data within the one year period prior to amputation were extracted from the CPRD. Dates of last primary care consultation and cardiovascular assessment prior to amputation were evaluated. Timings of latest cardiovascular assessments were stratified into "recent" (7-90 days before amputation) and "late" (> 91 days). RESULTS: In total, 3 260 patients were included. In the year prior to amputation, patients attended a median of 19 (range 9-32) primary care consultations; however, prescription of secondary preventive medications was poor (antiplatelet 49.7%; lipid lowering agent 40.7%). Overall, 2 175 patients (66.7%) attended a primary care consultation 7-30 days before their amputation. However, only 416 (12.8%) underwent a cardiovascular assessment within this period, with 2 073 (63.6%) undergoing no assessment within 90 days of their amputation. Of these 2 073 patients, 1 230 (59.3%) had a primary care consultation 7-30 days before their procedure. Patients undergoing "late" assessment were younger (p = .003), with higher systolic (p = .008) and diastolic (p = .001) blood pressures than those undergoing "recent" assessment. Differences were also observed between assessment timings by deprivation (p = .003) and ethnicity (p = .006). CONCLUSION: Missed opportunities for timely recognition potentially exist and may be related to age, deprivation, and ethnicity. Further work is required to investigate these factors, as well as individual amputations to identify the causes precipitating amputation. Greater emphasis on the medical management of peripheral arterial disease and identifying cardiovascular risk factors in patients who may not fit the "at risk" stereotype, are also required.

Computed tomography-based diagnosis of occult fragility hip fractures offer shorter waiting times with no inadvertent missed diagnosis.

PURPOSE: Surgical delay due to the wait for advanced cross-sectional imaging in occult fragility hip fracture management is not well studied. Our study aims to investigate computed tomography (CT) as an alternative to the gold standard magnetic resonance imaging (MRI) in occult hip fracture workup to decrease surgical delay. METHODS: We conducted a retrospective review of all CTs and MRIs performed between 2015 and 2017 for patients with clinically suspected fragility hip fractures and negative plain radiographs to investigate surgical delay resulting from the wait for advanced imaging and representations due to missed fractures. RESULTS: A total of 243 scans (42 CTs and 201 MRIs) were performed for occult hip fracture workup over the study timeframe, of which 49 patients (20%) had occult hip fractures [CT: 6 (14%), MRI: 43 (21%), p = 0.296)]. There were no readmissions for fracture in the 12 months following a negative scan. The CT group had shorter waiting times (CT: 29 ± 24 h, MRI: 44 ± 32 h, p = 0.004) without significantly reducing surgical delay (CT: 82 ± 36 h, MRI: 128 ± 58 h, p = 0.196). The MRI group had a higher number of patients with a cancer history (p = 0.036), reflective of the practice for workup of possible metastases as a secondary intention. CONCLUSION: Advanced cross-sectional imaging wait times in occult hip fracture workup contribute significantly to surgical delay. Modern CT techniques are not inferior to MRI in detecting occult fractures and may be a suitable alternative in the absence of a cancer history if MRI cannot be obtained in a timely fashion or is contraindicated. Clinicians should utilize the more readily available imaging modality to reduce surgical delay.

Impact of Inadequate Bowel Cleansing on Colonoscopic Findings in Routine Screening Practice.

INTRODUCTION: Colonoscopy is an imperfect gold standard for detecting colorectal neoplasms because some proportion of adenomas may be missed, mainly small lesions. This proportion is expected to be higher in case of inadequate bowel cleansing, which is frequently seen in routine practice. We estimated the proportions of neoplasms that are in principle detectable by colonoscopy but might be missed in case of incomplete bowel preparation. METHODS: For 8,193 participants of screening colonoscopy in South-Western Germany, recruited between 2005 and 2016, the prevalence and numbers of different findings were extracted from colonoscopy reports and compared according to the reported bowel preparation quality. RESULTS: Bowel preparation quality was reported as good, poor, or was unspecified in 30.3%, 11.1%, and 58.6% of colonoscopy records. Reported prevalences of nonadvanced adenomas (NAAs) were similar among participants with poor and unspecified bowel preparation quality but substantially lower than among participants with good bowel preparation (adjusted prevalence rate ratio [RR] 0.86, 95% confidence interval [CI]: 0.77-0.96). The differences were observed for proximal but not for distal NAAs (RRs 0.82, 95% CI: 0.71-0.95 and 0.95, 95% CI: 0.82-1.10). DISCUSSION: Our study suggests that a significant proportion of NAAs located in the proximal colon might be missed during colonoscopy if bowel cleansing is not adequate. Major efforts should be made to further facilitate and enhance high-quality bowel preparation in routine screening practice.