Changes In Clinical Management Research Articles

Clinical value of Alzheimer's disease biomarker testing.

In the Investigating the Impact of Alzheimer's Disease Diagnostics in British Columbia (IMPACT-AD BC) study, we aimed to understand how Alzheimer's disease (AD) cerebrospinal fluid (CSF) biomarker testing-used in medical care-impacted medical decision-making (medical utility), personal decision-making (personal utility), and health system economics. The study was designed as an observational, longitudinal cohort study. A total of 149 patients were enrolled between February 2019 and July 2021. Patients referred to memory clinics were approached to participate if their dementia specialist ordered AD CSF biomarker testing as part of their routine medical care, and the clinical scenario met the appropriate use criteria for lumbar puncture and AD CSF biomarker testing. For the medical utility pillar, detailed clinical management plans were collected via physician questionnaires pre- and post-biomarker disclosure. Patients with completed management questionnaires (n = 142) had a median age of 64 (interquartile range: 59-69) years, 48% were female, and 60% had CSF biomarker profiles on the AD continuum. Clinical management changed in 89.4% of cases. AD biomarker testing was associated with decreased need for other diagnostic procedures, including brain imaging (-52.0%) and detailed neuropsychological assessments (-63.2%), increased referrals and counseling (57.0%), and guided AD-related drug prescriptions (+88.4% and -50.0% in biomarker-positive and -negative cases, respectively). AD biomarker testing was associated with significant and positive changes in clinical management, including decreased health care resource use, therapy optimization, and increased patient and family member counseling. While certain changes in management were linked to the AD biomarker profile (e.g., referral to clinical trials), the majority of changes were independent of baseline clinical presentation and level of cognitive impairment, demonstrating a broad value for AD biomarker testing in individuals meeting the appropriate use criteria for testing.

Utility of Follow-up Radiographs in Type 1 Supracondylar Humerus Fractures.

Supracondylar humerus (SCH) fractures are common among pediatric patients, with the severity categorized using the Gartland classification system. Type 1 SCH fractures are nondisplaced and treated with immobilization, while more displaced fractures require surgery. The need for follow-up radiographs, particularly for type 1 fractures, is an area where evidence is lacking. This study investigates the clinical value and financial implications of follow-up radiographs for type 1 SCH fractures, hypothesizing that they do not alter clinical management and, therefore, represent an unnecessary expense. This retrospective cohort study, approved by the Institutional Review Board, focused on patients under 18 with nondisplaced SCH fractures treated nonoperatively. One hundred one type 1 SCH fractures, in which the fracture was visible on presenting radiographs, were chosen from patients presenting between January 2021 and December 2022. Charts were reviewed for demographic information, time of cast removal, and complications. A pediatric orthopaedic surgeon and orthopaedic resident reviewed the radiographs to confirm the injury to be a type 1 SCH fracture. Among the 101 patients, after the initial presentation, 79 attended an interim visit and 101 attended a "3-week follow-up" at an average of 23 days postinjury. All patients underwent radiographs during these visits for a total of 180 radiographs after confirmation of type 1 SCH fracture. No changes in management resulted from follow-up radiographs. One instance of refracture was noted ~3 months after cast removal. There were 180 superfluous follow-up radiographs taken at subsequent clinic visits. The total charge for these radiographs was $76,001.40, averaging $752.49 per patient. Follow-up radiographs for type 1 SCH fractures did not lead to changes in clinical management, aligning with previous findings in more severe SCH fractures. This approach can reduce costs, radiation exposure, and clinic time without compromising patient care. The study can reassure providers and parents about the lack of necessity for follow-up radiographs to document healing. Level-IV.

Multi-center implementation of rapid whole genome sequencing provides additional evidence of its utility in the pediatric inpatient setting.

Multi-center implementation of rapid whole genome sequencing with assessment of the clinical utility of rapid whole genome sequencing (rWGS), including positive, negative and uncertain results, in admitted infants with a suspected genetic disease. rWGS tests were ordered at eight hospitals between November 2017 and April 2020. Investigators completed a survey of demographic data, Human Phenotype Ontology (HPO) terms, test results and impacts of results on clinical care. A total of 188 patients, on general hospital floors and intensive care unit (ICU) settings, underwent rWGS testing. Racial and ethnic characteristics of the tested infants were broadly representative of births in the country at large. 35% of infants received a diagnostic result in a median of 6 days. The most common HPO terms for tested infants indicated an abnormality of the nervous system, followed by the cardiovascular system, the digestive system, the respiratory system and the head and neck. Providers indicated a major change in clinical management because of rWGS for 32% of infants tested overall and 70% of those with a diagnostic result. Also, 7% of infants with a negative rWGS result and 23% with a variant of unknown significance (VUS) had a major change in management due to testing. Our study demonstrates that the implementation of rWGS is feasible across diverse institutions, and provides additional evidence to support the clinical utility of rWGS in a demographically representative sample of admitted infants and includes assessment of the clinical impact of uncertain rWGS results in addition to both positive and negative results.

Ultrasound for acute pyelonephritis: a systematic review and meta-analysis.

There is little consensus regarding the indications and utility of urinary tract imaging and type of imaging to perform in patients presenting with acute pyelonephritis (APN). The aims of this systematic review were to, among patients with APN, (i) identify the proportion of patients investigated with ultrasound (US), (ii) identify the proportion of abnormal USand (iii) identify the proportion of patients with a change in management resulting from abnormal US. A comprehensive search covered two electronic databases (Medline and EMBASE), with selection of studies performed independently by two investigators. Inclusion criteria were English language APN diagnosis and quantification of patients assessed with US or abnormal US results. Quality appraisal used the Newcastle-Ottawa instrument. There were 35 studies included. The proportion of patients assessed with US was reported in 16 manuscripts and ranged from 20% to 94%, with significant heterogeneity and publication bias. The proportion of abnormal US was reported in 31 manuscripts and ranged from 7% to 79%. The proportion of abnormal US leading to change in management was reported in five studies and ranged from 7% to 59%. There was marked heterogeneity among studies included in all three subgroups. Patients with APN are commonly investigated with US, but only a small proportion have abnormalities and appear to be associated with changes in clinical management. The use of routine US for APN is therefore questioned. The identification of clinical variables for appropriate selection of patients to investigate with US requires further research.

Abstract WP124: Dual Energy Head CT Immediately Following Mechanical Thrombectomy Rarely Leads to Changes in Clinical Management

Introduction: No guidelines exist regarding imaging after mechanical thrombectomy (MT) for acute ischemic stroke (AIS). Dual Energy Head CT (DECT) can differentiate between contrast staining and intracranial hemorrhage (ICH). We obtained routine DECT for AIS patients immediately following MT. We aimed to understand the impact of DECT on clinical management. Methods: We conducted a single-center retrospective study of AIS patients who underwent MT and immediate post-procedure DECT between March 2021 and February 2023. Patients were grouped by whether or not DECT results changed management, compared to our standard post-thrombectomy protocol and as documented in clinical notes. Continuous variables were compared using Wilcoxon Rank-Sum tests, and categorical variables were compared using Chi-square tests. Results: Of 173 patients who met inclusion criteria, 13 (7.5%) had documented changes in management following DECT. Management changes included delayed anti-thrombotic administration, lowered systolic blood pressure goals, and serial imaging. There were no statistically significant differences in age, gender, initial NIHSS, ischemic core size pre-MT, or treated vessel between patients with and without a change in management. Patients with management changes were more likely to have had procedural complications, contrast staining, any ICH, and symptomatic ICH (Table). While 34 patients had ICH on DECT, this only led to a documented change in management for 11 (32.4%) patients. Conclusion: Routine DECT immediately after MT rarely changed clinical management. Immediate DECT may be reserved for patients with intraprocedural complications or those with clinical suspicion of ICH.

Tumor-Informed Circulating Tumor DNA for Minimal Residual Disease Detection in the Management of Colorectal Cancer.

Recurrence after curative-intent treatment occurs in 20%-50% of patients with stage II-IV colorectal cancer (CRC), underscoring the need for early detection of minimal residual disease (MRD) using circulating tumor DNA (ctDNA). Here, we examined the pattern of use of a tumor-informed ctDNA assay in CRC MRD monitoring in routine clinical practice at Mayo Clinic, Rochester. We conducted a retrospective analysis of health records of patients with CRC who had at least one tumor-informed ctDNA assay from May 2019 through July 1, 2022. Recurrence was defined as radiographic evidence of disease. Descriptive characteristics of the cohort, ctDNA results, and subsequent interventions were recorded. Of the 120 patients included, the median age at diagnosis was 67 years, 46% were female, and 94% were White. At diagnosis, 10 patients had stage I, 23 stage II, 60 stage III, and 25 stage IV disease. Of 476 ctDNA assays performed, 70% were performed in patients who had recurrent disease most commonly to monitor the effectiveness of therapeutic interventions and 16% resulted in a change in clinical decision making. There were 110 recurrences identified in 62 patients, as some patients experienced more than one recurrence over time. Compared with serum carcinoembryonic antigen levels, ctDNA results correlated better with radiologic imaging. Routine ctDNA monitoring for MRD detection has been adopted in clinical practice; however, 84% of ctDNA assays performed did not result in a change in clinical management. This suggests the need for further clinical research data to guide routine clinical use of ctDNA MRD testing in CRC.

Inflammation—A Possible Link between Myocarditis and Arrhythmogenic Cardiomyopathy

Arrhythmogenic cardiomyopathy is a primary genetic disease caused by mutations in the desmosome genes. Ever since the introduction of new imaging techniques, like cardiovascular magnetic resonance, the diagnosis of arrhythmogenic cardiomyopathy has become more challenging as left ventricular or biventricular variants may have resemblance to other cardiomyopathies or myocarditis. Not only this but they may also share an acute phase, which might cause even more confusion and misdiagnoses and influence the prognosis and outcome. In this case report, we present a 31-year-old patient with multiple clinical pictures: his symptoms were acute chest pain, new onset of heart failure and arrhythmia symptoms, which determined a dynamic change in clinical diagnosis and management, ultimately taking into consideration arrhythmogenic cardiomyopathy. Through the article, we try to uncover and explain common pathophysiological pathways shared by arrhythmogenic cardiomyopathy and other clinical entities with a special focus on inflammation. The final question remains: “If there is more than one heart disorder that eventually leads to the same clinical image, one may wonder, is arrhythmogenic cardiomyopathy a syndrome rather than a specific condition?”.

Changes in Clinical Management Following 14-Day Ambulatory ECG Monitoring Following Emergency Department Evaluation for Unexplained Syncope

Changes in Clinical Management Following 14-Day Ambulatory ECG Monitoring Following Emergency Department Evaluation for Unexplained Syncope

Thyroid and adrenal incidentalomas on chest CT: Prevalence, diagnostic work-up and outcomes in a cohort of COVID-19 suspected patients

ObjectiveDue to increased use of computed tomography (CT), prevalence of thyroid and adrenal incidentalomas is rising. Yet, previous studies on the outcomes of diagnostic work-up of incidentalomas are subjected to inclusion bias. Therefore, we aimed to investigate prevalence and outcomes of diagnostic work-up of thyroid and adrenal incidentalomas detected on chest CT in a less selected population of COVID-19 suspected patients. DesignA retrospective, observational cohort study. MethodsWe included all COVID-19 suspected patients who underwent chest CT between March 2020 and March 2021. Radiology reports and medical records were reviewed for the presence and subsequent diagnostic work-up of thyroid and adrenal incidentalomas. ResultsA total of 1,992 consecutive COVID-19 patients were included (59.4% male, median age 71 years [IQR: 71–80]). Thyroid and adrenal incidentalomas were identified in 95 (4.8%) and 133 (6.7%) patients, respectively. Higher prevalence was observed with increasing age, among female patients and in patients with malignancy. Forty-four incidentalomas were further analyzed, but no malignancies were found. Only three lesions were hormonally active (1 thyrotoxicosis and 2 mild autonomous cortisol secretion). Diagnostic work-up did not lead to any change in clinical management in 97.7% of the analyzed patients. ConclusionPrevalence rates of thyroid and adrenal incidentalomas on chest CT in a less selected COVID-19 cohort were 4.8% and 6.7%, respectively. Yet, as all incidentalomas turned out to be benign and only three lesions were (mildly) hormonally active, this raises the question whether intensive diagnostic work-up of incidentalomas is necessary in all patients.

Early genetic testing in pediatric epilepsy: Diagnostic and cost implications.

The identification of numerous genetically based epilepsies has resulted in the widespread use of genetic testing to inform epilepsy etiology. Our study aims to investigate whether a difference exists in the diagnostic evaluation and healthcare-related cost expenditures of pediatric patients with epilepsy of unknown etiology who receive a genetic diagnosis through multigene epilepsy panel (MEP) testing and comparing those who underwent early (EGT) versus late genetic testing (LGT). Testing was defined as early (less than 1 year), or late (more than 1 year), following clinical epilepsy diagnosis. A retrospective chart review of pediatric individuals (1-17 years) with epilepsy of unknown etiology who underwent multigene epilepsy panel (MEP) testing identified 28 of 226 (12%) individuals with a pathogenic epilepsy variant [EGT n = 8 (29%); LGT n = 20 (71%)]. The average time from clinical epilepsy diagnosis to genetic diagnosis was 0.25 years (EGT), compared with 7.1 years (LGT). The EGT cohort underwent fewer metabolic tests [EGT n = 0 (0%); LGT n = 16 (80%) (P < 0.01)] and invasive procedures [EGT n = 0 (0%); LGT n = 5 (25%) (P = 0.06)]. Clinical management changes implemented due to genetic diagnosis occurred in 10 (36%) patients [EGT n = 2 (25%); LGT n = 8 (40%) (P = 0.76)]. Early genetic testing with a MEP in pediatric patients with epilepsy of unknown etiology who receive a genetic diagnosis is associated with fewer non-diagnostic tests and invasive procedures and reduced estimated overall healthcare-related costs. PLAIN LANGUAGE SUMMARY: This study aims to investigate whether a difference exists in the diagnostic evaluation and cost expenditures of pediatric patients (1-17 years) with epilepsy of unknown cause who are ultimately diagnosed with a genetic cause of epilepsy through multigene epilepsy panel testing and comparing those who underwent early testing (less than 1 year) versus late testing (more than 1 year) after clinical epilepsy diagnosis. Of the 28 of 226 individuals with a confirmed genetic cause of epilepsy on multigene epilepsy panel testing, performing early testing was associated with fewer non-diagnostic tests, fewer invasive procedures and reduced estimated overall healthcare-related costs.

Dynamic updating of clinical survival prediction models in a changing environment

BackgroundOver time, the performance of clinical prediction models may deteriorate due to changes in clinical management, data quality, disease risk and/or patient mix. Such prediction models must be updated in order to remain useful. In this study, we investigate dynamic model updating of clinical survival prediction models. In contrast to discrete or one-time updating, dynamic updating refers to a repeated process for updating a prediction model with new data. We aim to extend previous research which focused largely on binary outcome prediction models by concentrating on time-to-event outcomes. We were motivated by the rapidly changing environment seen during the COVID-19 pandemic where mortality rates changed over time and new treatments and vaccines were introduced.MethodsWe illustrate three methods for dynamic model updating: Bayesian dynamic updating, recalibration, and full refitting. We use a simulation study to compare performance in a range of scenarios including changing mortality rates, predictors with low prevalence and the introduction of a new treatment. Next, the updating strategies were applied to a model for predicting 70-day COVID-19-related mortality using patient data from QResearch, an electronic health records database from general practices in the UK.ResultsIn simulated scenarios with mortality rates changing over time, all updating methods resulted in better calibration than not updating. Moreover, dynamic updating outperformed ad hoc updating. In the simulation scenario with a new predictor and a small updating dataset, Bayesian updating improved the C-index over not updating and refitting. In the motivating example with a rare outcome, no single updating method offered the best performance.ConclusionsWe found that a dynamic updating process outperformed one-time discrete updating in the simulations. Bayesian updating offered good performance overall, even in scenarios with new predictors and few events. Intercept recalibration was effective in scenarios with smaller sample size and changing baseline hazard. Refitting performance depended on sample size and produced abrupt changes in hazard ratio estimates between periods.

Reinterpretation of Hepatopancreaticobiliary Imaging Exams: Assessment of Clinical Impact, Peer Learning, and Physician Satisfaction

To assess the impact on clinical management, potential for peer learning, and referring physician satisfaction with subspecialist reinterpretations of hepatopancreaticobiliary (HPB) imaging examinations. HPB CTs and MRIs from outside hospitals were reinterpreted by two subspecialty radiologists between March 2021 and August 2022. Reinterpretation reports were mailed to radiologists that issued primary reports. The electronic record was reviewed to assess for changes in clinical management based on the reinterpretations (yes/no/unavailable). To assess the potential for peer learning, a survey using a 5-point Likert scale was sent to radiologists who issued primary reports. A separate survey was sent to referring physicians to assess satisfaction with reinterpretations. Two hundred fifty imaging examinations (122 CT, 128 MRI) were reinterpreted at the request of 19 referring physicians. Ninety-sixradiologists issued primary reports. RADPEER scores 1-3 were assigned to 131/250 (52%), 86/250 (34%), and 33/250 (13%) examinations, respectively. Of 213 reinterpretations with adequate records for assessment, 75/213 (35%) were associated with a change in management; of these, 71/75 (95%) were classified as RADPEER 2 or 3. Most radiologists agreed or strongly agreed with the following: prefer to receive reinterpretations (34/36, 94%); reinterpretations changed practice of reporting HPB imaging examinations (23/36, 64%); and reinterpretations offer opportunities for peer learning (34/36, 94%). Referring physicians agreed or strongly agreed (7/7, 100%) that reinterpretations are valuable and often change or clarify management of patients with complex HPB disease,and offeran opportunity for peer learning. Radiologists and referring physicians strongly agree that HPB imaging reinterpretations help support peer learning and patient management, respectively.

Quality of Life in Childhood Immune Thrombocytopenia: Revision of the Kids' ITP Tools (KIT)

Introduction New treatment approaches have emerged for pediatric ITP over the years, potentially impacting the health-related quality of life (HRQoL) of affected individuals. The Kids' ITP Tools (KIT) (Child self-report/Parent proxy-report and Parent impact-report) have gained international attention as valid tools for monitoring HRQoL in children with ITP and the impact on their parents. The questionnaires were recently updated to reflect changes in clinical management. However, it has also become common practice to evaluate the impact of new therapies using domain scales of QOL (i.e., sub-categories), which are not yet available for the KIT. Thus, the primary objective of this study was to establish domain scales for the KIT 2.0 that accurately quantify and identify specific aspects of HRQoL that are impacted in children with ITP and their parents. Methods The study was conducted in two sequential phases. Phase 1 involved ITP experts identifying key conceptual domains for the KIT questionnaires based on their clinical experiences. An online survey (“card sort survey”) was distributed, and experts sorted the current KIT 2.0 questions into domains, with domain headings suggested as well. Phase 2 involved a statistical approach (i.e., exploratory factor analysis (EFA)) to yield models with different number of domains. Data from children with ITP and their parents was utilized to develop the models, and the data was specifically from three previous international multicentre studies: ITP Consortium of North America (ICON1 study), UK Children's Hospital (UK ITP Paediatric Registry), and the Children's Hospital of Eastern Ontario (KIT international validation). Results In Phase 1, 24 experts completed the Child self-report card-sort survey, while 12 experts completed the Parent impact survey. There were two models that were derived for the Child Self-Report, with one having three domain scales and the other with four domain scales. The Parent Impact resulted in only one model that had three domain scales. In Phase 2, exploratory factor analysis (EFA) resulted in three models for each of the three questionnaires (Table 1), with the final models selected from the EFA and based on clinical interpretability. The four-domain model was selected for the Child Self-Report. The model had a higher Tucker Lewis Index (TLI) score and cumulative percentage of variance compared to the three-domain model. Though the cumulative percentage of variance was higher for the six-domain model, the model had two domains that each contained only two questions, which is not ideal for face validity. The final domain headings for the Child self-report were derived from the expert card sort survey: ITP Uncertainty; General symptoms; ITP challenges/disruptions; and Loss of control. The four-domain model was also selected for the Parent proxy-report on the basis of the same factors as the Child self-report. Likewise, the four-factor model had higher TLI score and relatively lower root mean square error of approximation (RMSEA) compared to the three-factor. The six-factor model had an ideal RMSEA, but contained one domain that had only two questions. The final domain headings are the same as the Child self-report as the context of the questions are the same. The four-domain model was selected for the Parent impact-report. Though both the four- and six-factor models contained two domains with only two questions each, the two-factor model was not ideal clinically as the questions within each of the two domains were not all similar. The headings were also derived from the expert card-sort: ITP Uncertainty; Treatment; Functional well-being; and Activities. Conclusion The revised KIT 2.0 aims to comprehensively summarize health-related quality of life in pediatric patients with ITP and their parents. The introduction of a domain structure derived from expert- and patient-data to the KIT will enable identification of specific aspects of QOL that are affected, which is imperative given the introduction of novel pharmaceutical agents in ITP treatment.

Longitudinal outcome monitoring in patients with chronic gastroduodenal symptoms investigated using the Gastric Alimetry system: study protocol

IntroductionThe Gastric Alimetry platform offers a multimodal assessment of gastric function through body surface gastric mapping (BSGM) and concurrent symptom-tracking via a validated App. We aim to perform a longitudinal...

Preoperative mediastinal staging in early-stage lung cancer: Targeted nodal sampling is not inferior to systematic nodal sampling

ObjectiveTo determine whether targeted sampling (TS), which omits biopsy of triple- normal lymph nodes (LNs) on positron emission tomography, computed tomography, and endobronchial ultrasound (EBUS), is noninferior to systematic sampling (SS) of mediastinal LNs during EBUS for staging of patients with early-stage non–small cell lung cancer (NSCLC). MethodsPatients who are clinical nodal (cN)0-N1 with suspected NSCLC eligible for EBUS based on positron emission tomography/computed tomography were enrolled in this prospective, multicenter trial. During EBUS, all patients underwent TS and then crossed over to SS, whereby at least 3 mediastinal LN stations (4R, 4L, 7) were routinely sampled. Gold standard of comparison was pathologic results. Based on the previous feasibility trial, a noninferiority margin of 6% was established for difference in missed nodal metastasis (MNM) incidence between TS and SS. The McNemar test on paired proportions was used to determine MNM incidence for each sampling method. Analysis was per-protocol using a level of significance of P < .05. ResultsBetween November 2020 and April 2022, 91 patients were enrolled at 6 high-volume Canadian tertiary care centers. A total of 256 LNs underwent TS and SS. Incidence of MNM was 0.78% in SS and 2.34% in TS, with an absolute difference of 1.56% (95% confidence interval, −0.003% to 4.1%; P = .13). This falls within the noninferiority margin. A total of 6/256 LNs from 4 patients who were not sampled by TS were found to be malignant when sampled by SS. ConclusionsIn high-volume thoracic endosonography centers, TS is not inferior to SS in nodal staging of early-stage NSCLC. This results in change of clinical management for a minority of patients.

Clinical Implementation and Value of Plasma Metagenomic Sequencing in Immunocompromised Pediatric Patients

Abstract Background Metagenomic next-generation sequencing (mNGS) of cell-free DNA from plasma is emerging as a promising diagnostic tool in immunocompromised hosts but its performance characteristics in specific patient populations and clinical syndromes have not been systematically compared. Here, we describe the implementation and clinically utility of plasma mNGS in a large cohort of pediatric patients who are immunocompromised. Methods We performed retrospective review of all plasma mNGS testing (Karius®) performed at University of Minnesota between December 2017 – December 2022. Study design was reviewed by UMN IRB and determined to be nonhuman subjects research. For this study, we performed a nested subgroup secondary analysis of all patients aged &amp;lt;18 years at time of mNGS test who had underlying conditions that included hematologic malignancy, solid organ malignancy, hematopoietic stem cell transplantation or solid organ transplantations. Electronic medical records were reviewed for each mNGS test, recording patient demographics, underlying conditions, indications, and conventional microbiological results within 30 days of mNGS. The primary endpoint was change in clinical management as defined by Hogan et al and adjudicated by 2 independent reviewers. Secondary end points included sensitivity, time to mNGS order and time to diagnosis. Results We identified 71 unique pediatric patients with an immune compromised state who had 104 plasma mNGS tests performed between them. Fever was the most common indication for plasma mNGS (66%, 69/104), followed by Pulmonary Syndrome/Infiltrate/Lesion (23%, 22/104). The median time to plasma mNGS ordering from symptom onset was 8 days (IQR 3-17). Pediatric Infectious Diseases was consulted 70% (73/104) of the time. In cases where a microbiological cause(s) were identified, plasma mNGS identified the organism 48% of the time compared to 74% in conventional testing. Plasma mNGS led to a change in clinical management in 14 cases (13%,14/104) ordered in 13 unique patients. In 8 cases this led to a new diagnosis not confirmed by conventional microbiological testing or an earlier diagnosis, later confirmed by conventional testing. The new or earlier diagnoses cases included detection of invasive fungal/mold infections, anaerobic infections, and parasitic infections and were ordered on average within 2 days of symptom onset. Negative or DNA virus results on the plasma mNGS led to de-escalation of antimicrobials in 28% (4/13) of the positive impact cases. Conclusions Here, we describe the implementation of plasma mNGS in large immunocompromised pediatric cohort. Plasma mNGS led to a change in clinical management in a minority of cases (13%). However, these cases demonstrate that when ordered early in the clinical syndromes, plasma mNGS testing can detect difficult to diagnose organisms and promote antimicrobial stewardship. More prospective studies with early implementation of plasma mNGS in immunocompromised pediatric patients will be informative of the clinical value of this powerful diagnostic tool.

Feasibility of resuscitative transesophageal echocardiography at out-of-hospital emergency scenes of cardiac arrest

Guidelines recommend the use of ultrasound in cardiac arrest. Transthoracic echocardiography, has issues with image quality and by increasing hands-off times during resuscitation. We assessed the feasibility of transesophageal echocardiography (TEE), which does not have both problems, at out-of-hospital cardiac arrest (OHCA) emergency scenes. Included were 10 adults with non-traumatic OHCA in Vienna, Austria. An expert in emergency ultrasound was dispatched to the scenes in addition to the resuscitation team. Feasibility was defined as the ability to collect specific items of information by TEE within 10 min. Descriptive statistics were compiled and hands-off times were compared to a historical control group. TEE examinations were feasible in 9 of 10 cases and prompted changes in clinical management in 2 cases (cardiac tamponade: n = 1; right ventricular dilatation: n = 1). Their mean time requirement was 5.1 ± 1.7 (2.8–8.0) min, and image quality was invariably rated as excellent or good during both compressions and pauses. No TEE-related complications, or interferences with activities of advanced life support were observed. The hands-off times during resuscitation were comparable to a historical control group not involving ultrasound (P = 0.24). Given these feasibility results, we expect that TEE can be used routinely at OHCA emergency scenes.

Abstract 16140: Utility of Cardiovascular Magnetic Resonance Imaging in Clinical Decision Making for Children and Adolescents With Hypertrophic Cardiomyopathy

Introduction: Cardiovascular magnetic resonance (CMR) imaging is recommended for surveillance and risk stratification in patients with hypertrophic cardiomyopathy (HCM), but the role of CMR findings in clinical decision making has not been described in a pediatric population. Methods: In this single center retrospective study we identified all patients with HCM who underwent CMR. We then determined if there was a clinical management change based on CMR findings. Results: We identified 136 patients with an HCM diagnosis from 2005-2022. Of these, 55 patients (40%) underwent 76 CMR studies. The HCM etiology was genetic or familial in 31 (56%), idiopathic in 21 (38%), and syndromic in 3 (5%); 34% of patients were female; and the median age (and IQR) of included patients at first CMR was 12 (9-15) years old. Ten patients underwent more than one CMR. Both awake and sedated CMRs were included and there were no complications. Management changes included confirmation of HCM diagnosis in 9 patients (16%), change in medical therapy for 3 (5%), myectomy recommendation in 1 (2%), and implantable cardioverter defibrillator (ICD) placement recommendation in 11 (20%). Of those recommended for ICD placement, 8 were a result of new late gadolinium enhancement and 3 had massive septal hypertrophy (median Z-score 30) discovered or confirmed by CMR. To date, no ICDs have discharged any shocks. Altogether, changes in clinical management were made based on CMR findings for 22 patients (40%), representing a change in management as a result of 29% of the total CMRs performed. Conclusion: CMR is an important contributor to clinical decision making in the management of children and adolescents with HCM. Specifically, CMR in this population was especially useful in defining the diagnosis of HCM in the presence of an equivocal echocardiogram and deciding to place an ICD. Fewer CMRs contributed to decision making regarding medical therapy and septal myectomy.

Abstract 17668: Association of Female Sex With Outcomes in Older Patients With STEMI

Introduction: Acute coronary syndrome is increasingly affecting the aging population. Despite this, we have observed that older patients presenting with acute coronary syndromes often experience poorer outcomes in the setting of age-related comorbidities and undergo decreased rates of reperfusion therapy. In this analysis, we aimed to uncover any sex differences in outcomes amongst older female patients admitted with ST-Elevation Myocardial Infarction (STEMI). Methods: We utilized the National Inpatient Sample data from 2020 to isolate cases where patients were primarily admitted for STEMI. From this pool, we then identified two subsets: individuals who were aged 65 and over and females. We implemented both logistic and linear regression analyses and accounted for any potential confounding factors. We considered our findings to be statistically significant if the 2-tailed p-value was &lt;0.05. Results: During 2020, there were a total of 159,890 hospitalizations for STEMI. Among these cases, 46.3% or 74,013 involved patients over 65 years old. After adjusting for various factors such as race, hospital characteristics (including bed size, location, and teaching status), insurance coverage, income level, and Elixhauser comorbidities, we noted a number of significant findings for women over the age of 65 admitted due to STEMI. These included a heightened in-hospital mortality rate (aOR 1.36, 95% CI 1.23- 1.52), reduced usage of mechanical ventilation (aOR 0.86, 95% CI 0.78 - 0.96), less likelihood to receive mechanical circulatory support (aOR 0.64, 95% CI 0.53 - 0.78), and a decreased probability to undergo PCI (aOR 0.87, 95% CI 0.81 - 0.94). Conclusion: In hospital admissions for STEMI, we observed that older female patients experienced increased complications during hospitalization and were less likely to undergo invasive reperfusion therapy. Additional research would be required to identify if these sex differences can be attributed to variations in initial presentation before STEMI or if changes in clinical management by sex are contributing to adverse outcomes.

Molecular diagnostic yield for Blau syndrome in previously diagnosed juvenile idiopathic arthritis with uveitis or cutaneous lesions.

Diagnostic pitfalls often arise in the community because of potentially misleading similarities between juvenile idiopathic arthritis (JIA) and Blau syndrome, an immune-related disorder caused by NOD2 gene mutations. It remains unclear in which population and to what extent next-generation sequencing techniques can aid in diagnosis. We evaluated clinical usefulness of targeted next-generation sequencing in previously diagnosed JIA. Participants were required to have symptoms and signs suspected of Blau syndrome, including at least uveitis or cutaneous lesions in addition to arthritis. Targeted sequencing was conducted on NOD2 gene to detect diagnostic variants classified as pathogenic or likely pathogenic for Blau syndrome. We assessed the molecular diagnostic yield and clinical implications for patient care. Between 1 May 2008 and 1 June 2021, sequencing data were accrued from 123 previously diagnosed JIA (median age: 5 years; female: 62.6%). Targeted NOD2 sequencing yielded a positive molecular diagnosis of Blau syndrome in 21.1% (95% CI: 14.9%, 29.2%), encompassing six heterozygous missense mutations classified as pathogenic variants. Among those receiving a molecular diagnosis, changes in clinical management and treatment were considered as having occurred in 38.5%. Nine predictors were identified as being associated with a higher diagnostic yield, providing clinical clues to suspect the possibility of Blau syndrome. Among some patients with paediatric-onset arthritis complicated with uveitis or cutaneous lesions, reassessment of the diagnosis of JIA may be warranted. Targeted NOD2 sequencing established the molecular diagnosis of Blau syndrome in nearly one-fifth of these cases and provided clinically relevant information for patient-care decisions.