On the Hunt for the Missed Genetic Causes of Multiple Primary Tumors.

Improved cancer screening and treatment programs have led to an increased survivorship of patients with cancer, but consequently also to the rise in number of individuals with multiple primary tumors (MPT). Germline testing is the first approach investigating the cause of MPT, as a positive result provides a diagnosis and proper clinical management to the affected individual and their family. Negative or inconclusive genetic results could suggest non-genetic causes, but are negative genetic results truly negative? Herein, we discuss the potential sources of missed genetic causes and highlight the trove of knowledge MPT can provide. See related article by Borja et al., p. 209.

Is Myocardial Infarction Overdiagnosed?

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

Missed Opportunities to Diagnose and Treat Asymptomatic Hypertension in Emergency Departments in the United States, 2016-2019.

BACKGROUND: Fewer than one-half of U.S. adults with hypertension (HTN) have it controlled and one-third are unaware of their condition. The emergency department (ED) represents a setting to improve HTN control by increasing awareness of asymptomatic hypertension (aHTN) according to the 2013 American College of Emergency Physicians asymptomatic elevated blood pressure clinical policy. OBJECTIVE: The aim of the study was to estimate the prevalence and management of aHTN in U.S. EDs. METHODS: We examined the 2016-2019 National Hospital Ambulatory Medical Care Surveys to provide a more valid estimate of aHTN visits in U.S. EDs. aHTN is defined as adult patients with blood pressure ≥ 160/100 mm Hg at triage and discharge without trauma or signs of end organ damage. We then stratified aHTN into a 160-179/100-109 mm Hg subgroup and > 180/110 mm Hg subgroup and examined diagnosis and treatment outcomes. RESULTS: Approximately 5.9% of total visits between 2016 and 2019 met the definition for aHTN and 74% of patients were discharged home, representing an estimated 26.5 million visits. Among those discharged home, emergency physicians diagnosed 13% (95% CI 10.6-15.8%) and treated aHTN in 3.9% (95% CI 2.8-5.5%) of patients in the higher aHTN subgroup. In the lower aHTN subgroup, diagnosis and treatment decreased to 3.1% (95% CI 2.4-4.1%) and 1.2% (95% CI 0.7-2.0%), respectively. CONCLUSIONS: Millions of ED patients found to have aHTN are discharged home without diagnosis or treatment. Although management practices follow clinical policy to delay treatment of aHTN, there are missed opportunities to diagnosis aHTN.

During the COVID-19 pandemic 20 000 prostate cancer diagnoses were missed in England.

OBJECTIVES: To investigate the effect of the COVID-19 pandemic on prostate cancer incidence, prevalence, and mortality in England. PATIENTS AND METHODS: With the approval of NHS England and using the OpenSAFELY-TPP dataset of 24 million patients, we undertook a cohort study of men diagnosed with prostate cancer. We visualised monthly rates in prostate cancer incidence, prevalence, and mortality per 100 000 adult men from January 2015 to July 2023. To assess the effect of the pandemic, we used generalised linear models and the pre-pandemic data to predict the expected rates from March 2020 as if the pandemic had not occurred. The 95% confidence intervals (CIs) of the predicted values were used to estimate the significance of the difference between the predicted and observed rates. RESULTS: In 2020, there was a drop in recorded incidence by 4772 (31%) cases (15 550 vs 20 322; 95% CI 19 241-21 403). In 2021, the incidence started to recover, and the drop was 3148 cases (18%, 17 950 vs 21 098; 95% CI 19 740-22 456). By 2022, the incidence returned to the levels that would be expected. During the pandemic, the age at diagnosis shifted towards older men. In 2020, the average age was 71.6 (95% CI 71.5-71.8) years, in 2021 it was 71.8 (95% CI 71.7-72.0) years as compared to 71.3 (95% CI 71.1-71.4) years in 2019. CONCLUSIONS: Given that our dataset represents 40% of the population, we estimate that proportionally the pandemic led to 20 000 missed prostate cancer diagnoses in England alone. The increase in incidence recorded in 2023 was not enough to account for the missed cases. The prevalence of prostate cancer remained lower throughout the pandemic than expected. As the recovery efforts continue, healthcare should focus on finding the men who were affected. The research should focus on investigating the potential harms to men diagnosed at older age.

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.

Pattern of breast cancer presentation during the COVID-19 pandemic: results from a cohort study in the UK.

Background: This study aimed to explore the hypothesis that the stage of breast cancer at initial diagnosis in 2020 is more advanced compared with 2019. Methods: Tumor, node, metastasis and Union for International Cancer Control (UICC) stages of new breast cancer diagnoses at the Bucks Breast Unit from May 2019 to October 2020 were reviewed. A p < 0.05 was considered significant. Results: Average UICC stage increased from 1a in 2019 to 2a in 2020 (p < 0.01). Excluding cancers detected through screening, UICC stage still increased from 1b in 2019 to 2a in 2020 (p = 0.0184). There was a significant increase in the percentage of node-positive patients (p = 0.0063) and patients with metastatic disease (p = 0.0295) on initial presentation. Conclusion: Overall, patients presented with higher UICC stages and more node-positive and metastatic disease on initial diagnosis in 2020 compared with 2019.

Plain language summary During the coronavirus disease 2019 pandemic, breast cancer screening services were halted across the UK. Patients were also encouraged to stay home and to seek medical attention only in an emergency. The authors hypothesized that this might have led to delays in presentation to breast cancer clinics or missed cancer diagnoses. While patients are at home with undiagnosed breast cancer, the cancer can grow and spread. The authors evaluated whether these delays in presentation led to patients presenting with more advanced breast cancers when they finally presented to a breast cancer clinic. The authors collected data on breast cancer stages for a patient group in 2020 (during the height of the pandemic) and compared them with a patient group in 2019. The authors' results did indeed show that patients presented, on average, with more advanced breast cancers in 2020 compared with 2019.

Are Mental Health and Substance Use Disorders Risk Factors for Missed Acute Myocardial Infarction Diagnoses Among Chest Pain or Dyspnea Encounters in the Emergency Department?

STUDY OBJECTIVE: To assess if having a mental health and/or substance use disorder is associated with a missed acute myocardial infarction diagnosis in the emergency department (ED). METHODS: This was a retrospective cohort analysis (2009 to 2017) of adult ED encounters at Kaiser Permanente Southern California. We used the validated symptom-disease pair analysis of diagnostic error methodological approach to "look back" and "look forward" and identify missed acute myocardial infarctions within 30 days of a treat-and-release ED visit. We use adjusted logistic regression to report the odds of missed acute myocardial infarction among patients with a history of mental health and/or substance use disorders. RESULTS: The look-back analysis identified 44,473 acute myocardial infarction hospital encounters; 574 (1.3%) diagnoses were missed. The odds of missed diagnoses were higher in patients with mental health disorders (odds ratio [OR] 1.48, 95% confidence interval [CI] 1.23 to 1.77) but not in those with substance abuse disorders (OR 1.22, 95% CI 0.91 to 1.62). The highest risk was observed in those with co-occurring disorders (OR 1.90, 95% CI 1.30 to 2.76). The look-forward analysis identified 325,088 chest pain/dyspnea ED encounters; 508 (0.2%) were missed acute myocardial infarctions. No significant associations of missed acute myocardial infarction were revealed in either group (mental health disorder: OR 0.92, 95% CI 0.71 to 1.18; substance use disorder: OR 1.22, 95% CI 0.80 to 1.85). CONCLUSION: The look-back analysis identified patients with mental illness at increased risk of missed acute myocardial infarction diagnosis, with the highest risk observed in those with a history of comorbid substance abuse. Having substance use disorders alone did not increase this risk in either cohort. The look-forward analysis revealed challenges in prospectively identifying high-risk patients to target for improvement.

The Incidence, Distribution and Clinicopathology of Missed Colorectal Cancer After Diagnostic Colonoscopy.

BACKGROUND: Colonoscopy does miss some lesions that may be later diagnosed as post-colonoscopy colorectal cancers (PCCRCs). We evaluated the rate of PCCRCs in a cohort of our patients. METHODS: The data of patients diagnosed with first primary colorectal cancers (CRCs) between July 2014 and June 2017 were analyzed. Colorectal cancers were considered to be missed if they occurred among patients who have had an index colonoscopy between 7 and 36 months prior to their diagnosis. The incidence of missed lesions and the distribution of such lesions in the large bowel are presented. RESULTS: In the study, 399 of the total 541 patients whose CRCs were diagnosed by colonoscopy were included. The median age of the patients (213 males and 186 females) was 75.3 (32.4-82.1) years. Seven patients with diagnosis of primary CRCs had undergone index colonoscopy between 7 and 36 months prior to their diagnostic colonoscopy. Therefore, the PCCRC rate in this cohort was 1.8% (7/399 × 100). The mean time interval between the false negative colonoscopy (index colonoscopy) and diagnostic colonoscopy was 18.7 (9.1- 34.9) months. Missed CRCs were located in the ascending (2), transverse (1), descending (1), and sigmoid colon (2) and in the rectum (1). CONCLUSION: Our PCCRC rate was 1.8%, which is lower than the usually reported rate.

Almost One-Third of Large Sessile Serrated Polyps Are Missed on CT Colonography.

BACKGROUND: Nearly one-third of colorectal cancers (CRC) arise via the serrated pathway. CT colonography (CTC) is a CRC screening examination. Endoscopic detection of sessile serrated polyps (SSPs) varies widely; it is unknown whether CTC effectively detects SSPs. The aim of this study is to determine whether CTC detects SSPs at an institution that performs a large volume of CTC. METHODS: We conducted a search of pathology records to identify serrated polyps (SPs) from 2005 to 2012. We extracted demographic data from the electronic health records (EHRs) of subjects with an SSP and examined endoscopy reports for location and size of each SSP. We identified subjects with a CTC within 1 year prior to the colonoscopy that found an SSP, and determined if the CTC identified the SSP. RESULTS: Our search found 3978 subjects with SP over the 7-year period. Seven hundred thirty-two subjects had at least 1 SSP. Eightytwo subjects had CTC done within 1 year prior to the colonoscopy that identified SSP. Seventy-nine subjects' polyps were identified on CTC. CT colonography was done an average of 38 ± 54 days prior to colonoscopy. One hundred fifteen SSPs were identified endoscopically. A total of 48.7% of all SSPs were identified via CTC; larger SSPs were more likely to be seen on CTC (P < .001), and 69.6% of SSPs larger than 10 mm were found via CTC. Proximal SSPs were more often identified than distal SSPs (P = .005). CONCLUSION: Given the miss rate for SSPs on CTC, endoscopists should be vigilant about examining the proximal colon in subjects referred after CTC, even if the imaging does not reveal a proximal polyp.

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.

Acute rheumatic fever - A pathological analysis of clinically missed cases.

BACKGROUND: Acute rheumatic fever (ARF) and its post-inflammatory sequel chronic rheumatic heart disease (RHD) are endemic in the Indian setting. Despite the updated Jones criteria, many cases of ARF remain undiagnosed or are missed. AIMS: This study aims to analyze pathological profiles of such cases and their importance in context of clinical presentation and Jones criteria. MATERIALS AND METHODS: A 22-year retrospective observational study of ARF was conducted in the Department of Pathology in a tertiary care institute. The cases were categorized as 1. Those fulfilling and 2. those partially or not fulfilling the Jones Criteria. Based on the autopsy findings, the lesions were classified as categorized mitral stenosis and/or regurgitation (MS ± MR) and pure mitral regurgitation (MR). STATISTICAL ANALYSIS: Nil. RESULTS: In 22 years, among 697 cases of autopsied cases of RHD, there were 59 cases (8.5%) of ARF. Among them, seven cases fulfilled the Jones criteria; five of them were clinically diagnosed. The remaining 52 cases (88.1%, 34 with MS ± MR and 18 with MR) did not fulfill or partially fulfilled the Jones criteria and were not diagnosed. A total of 18 patients (30.5%) had the first attack of ARF, whereas recurrences were noted in the remaining patients (69.5%). CONCLUSIONS: The study indicates that the typical manifestations of ARF under Jones criteria may not be present, especially in cases with recurrence. Hence, a presumptive or possible diagnosis of ARF can be made with presence of minor criteria or strong clinical suspicion in such cases.

Missed HIV diagnoses when screening only emergency department patients who have blood samples obtained for other clinical purposes.

OBJECTIVE: Emergency departments (EDs) are highly valued settings for HIV screening. Most large-volume ED HIV screening programs have attenuated operational barriers by screening only ED patients who already have a blood sample available for other clinical reasons. Our objective was to estimate the proportion of HIV positive patients who are missed when an ED excludes patients for whom HIV screening would be the only indication to obtain a blood sample. METHODS: This cross-sectional analysis used existing electronic records of patients seen between 2017 and 2019 by an urban, academic ED and its HIV screening program, which includes patients regardless of whether they receive other ED blood testing. The primary outcome was the proportion of patients tested by the screening program who were newly diagnosed with HIV (Sample 1) for whom HIV screening would be the only indication for venipuncture. We secondarily 1) estimate the proportion of ED patients who received venipuncture using a representative sample of consecutively approached participants which prospectively recorded whether patients had blood obtained or intravenous catheter placement during usual ED care (Sample 2) and 2) report patient characteristics including HIV risk factors for those with and without ED venipuncture for both groups. RESULTS: Of 41 persons newly diagnosed with HIV by the ED screening program (Sample 1), 13 (31.7%, 95%CI 18.6-48.2) did not undergo venipuncture for any reason other than their HIV test. The proportion of ED visits without a venipuncture (Sample 2) was 44.2% (95% CI 41.9-46.6). Patient characteristics were similar for both groups. CONCLUSIONS: Screening only those patients with a blood sample already available or easily obtainable due to usual ED care, misses many opportunities for earlier HIV diagnosis. Innovation in research, policy, and practice is needed to overcome still unaddressed barriers to ED HIV screening when HIV screening is the only indication for collection of a biological sample.

Domestic Mass Shooters: The Association With Unmedicated and Untreated Psychiatric Illness.

BACKGROUND: Given the relative lack of psychiatric information and data on the perpetrators of US mass shootings, the aim of our study was to understand who these "mass shooters" were and whether they had a psychiatric illness. If so, were they competently diagnosed, and if so, were they treated with appropriate medication for their diagnoses before the violence? METHODS: Because a prospective study of diagnosis and treatment could not, for obvious reasons, be carried out, we designed a retrospective, observational study of mass shooters, defined as those who killed 4 or more people with firearms between 1982 and 2012 or who killed 3 or more people with firearms between 2013 and 2019 in the United States. We used the Mother Jones database-a database of 115 persons identified as committing a mass shooting in the United States between January 1982 and September 2019. In the vast majority of the incidents identified in the database, the perpetrator died either during or shortly after the crime, leaving little reliable information about their history-especially psychiatric history. We focused on the 35 mass shooters who survived and for which legal proceedings were instituted because these cases presented the most reliable psychiatric information. For each of these 35 mass shootings, we interviewed forensic psychiatrists and forensic psychologists who examined the perpetrator after the crime and/or collected the testimony and reports by psychiatrist(s) at trial or in the postconviction proceedings contained in the court record. In addition, we reviewed available information from the court proceedings, public records, a videotaped interview of assailant by law enforcement, social media postings of the assailant, and writings of the assailant. After collecting the clinical information from multiple sources on each case to make a Diagnostic and Statistical Manual of Mental Disorders, Fifth Edition, diagnosis, we also completed a Sheehan Diagnostic Scale. After this, 20 additional cases where the assailant died at the crime were randomly selected form the remaining 80, to determine whether there were differences in psychiatric diagnoses and treatment between such assailants and those who survived. RESULTS: Twenty-eight of 35 cases in which the assailant survived had a psychiatric diagnosis-18 with schizophrenia, 3 with bipolar I disorders, 2 with delusional disorders, persecutory type, 2 with personality disorders (1 paranoid and 1 borderline), 2 with substance-related disorders without other psychiatric diagnoses, and 1 with posttraumatic stress disorder. Four had no psychiatric diagnosis, and in 3, we did not have enough information to make a diagnosis.Of 15 of 20 cases in which the assailant died, 8 had schizophrenia. None of those diagnosed with psychiatric illnesses were treated with medication. CONCLUSIONS: A significant proportion of mass shooters experienced unmedicated and untreated psychiatric disorder.

Dementia Diagnosis Disparities by Race and Ethnicity.

BACKGROUND: Dementia is often underdiagnosed and this problem is more common among some ethnoracial groups. OBJECTIVE: The objective of this study was to examine racial and ethnic disparities in the timeliness of receiving a clinical diagnosis of dementia. RESEARCH DESIGN: This was a prospective cohort study. SUBJECTS: A total of 3966 participants age 70 years and above with probable dementia in the Health and Retirement Study, linked with their Medicare and Medicaid claims. MEASURES: We performed logistic regression to compare the likelihood of having a missed or delayed dementia diagnosis in claims by race/ethnicity. We analyzed dementia severity, measured by cognition and daily function, at the time of a dementia diagnosis documented in claims, and estimated average dementia diagnosis delay, by race/ethnicity. RESULTS: A higher proportion of non-Hispanic Blacks and Hispanics had a missed/delayed clinical dementia diagnosis compared with non-Hispanic Whites (46% and 54% vs. 41%, P<0.001). Fully adjusted logistic regression results suggested more frequent missed/delayed dementia diagnoses among non-Hispanic Blacks (odds ratio=1.12; 95% confidence interval: 0.91-1.38) and Hispanics (odds ratio=1.58; 95% confidence interval: 1.20-2.07). Non-Hispanic Blacks and Hispanics had a poorer cognitive function and more functional limitations than non-Hispanic Whites around the time of receiving a claims-based dementia diagnosis. The estimated mean diagnosis delay was 34.6 months for non-Hispanic Blacks and 43.8 months for Hispanics, compared with 31.2 months for non-Hispanic Whites. CONCLUSIONS: Non-Hispanic Blacks and Hispanics may experience a missed or delayed diagnosis of dementia more often and have longer diagnosis delays. When diagnosed, non-Hispanic Blacks and Hispanics may have more advanced dementia. Public health efforts should prioritize racial and ethnic underrepresented communities when promoting early diagnosis of dementia.

The contribution of Lynch syndrome to early onset malignancy in Ireland.

BACKGROUND: Lynch syndrome (LS) is an autosomal dominant hereditary cancer syndrome responsible for 2-4% of hereditary colorectal cancers (CRC). Mismatch repair protein deficiency (dMMR) is a characteristic feature of LS. It has been associated with a poor response to standard chemotherapy in metastatic colorectal cancer (mCRC). There is currently no LS database to monitor trends of disease in Ireland. We aim to centralise LS data in Ireland to assess the burden of LS in Ireland and guide improvements in prevention and treatment of LS-associated cancer. METHODS: A retrospective review was carried out including all medical records for LS patients from two of the three cancer genetics clinics in Ireland between 2000 and 2018 was carried out. Clinicopathological data of probands (n = 57) and affected family members including demographics, mutation status, cancer diagnosis and outcome was recorded. Statistical analysis was carried out using SPSS software. RESULTS: Fifty-seven families including three-hundred and forty-five individuals affected by cancer were identified. The most common cancers recorded were colorectal (53%), breast (12%) and endometrial (10%). One-hundred and thirty-eight confirmed carriers were identified: 65 path_MLH1 (47%), 43 path_MSH2 (31%), 11 path_MSH6 (8%), 17 path_PMS2 (12%) and two path_EPCAM (1%). Cancer type varied significantly by gene. Median age of first diagnosis was 44.5 years (range 23-81). Half of all deceased patients (n = 11) in this group died within 2.5 years of first diagnosis. These deaths were directly related to cancer in 59% of cases. CONCLUSIONS: Under diagnosis of LS misses a powerful preventive and therapeutic opportunity. LS causes early onset dMMR cancer diagnoses with substantial societal impact. Implementation of ICBs into treatment policy for this small cohort of dMMR mCRC is an achievable therapeutic goal that may significantly improve survival. A prospective database for LS in Ireland is necessary to maximise prevention in this population.

Limited-Variant Screening vs Comprehensive Genetic Testing for Familial Hypercholesterolemia Diagnosis.

Importance: Familial hypercholesterolemia (FH) is the most common inherited cardiovascular disease and carries significant morbidity and mortality risks. Genetic testing can identify affected individuals, but some array-based assays screen only a small subset of known pathogenic variants. Objective: To identify the number of clinically significant variants associated with FH that would be missed by an array-based, limited-variant screen when compared with next-generation sequencing (NGS)-based comprehensive testing. Design, Setting, and Participants: This cross-sectional study compared comprehensive genetic test results for clinically significant variants associated with FH with results for a subset of 24 variants screened by a limited-variant array. Data were deidentified next-generation sequencing results from indication-based or proactive gene panels. Individuals receiving next-generation sequencing-based genetic testing, either for an FH indication between November 2015 and June 2020 or as proactive health screening between February 2016 and June 2020 were included. Ancestry was reported by clinicians who could select from preset options or enter free text on the test requisition form. Main Outcomes and Measures: Number of pathogenic or likely pathogenic (P/LP) variants identified. Results: This study included 4563 individuals who were referred for FH diagnostic testing and 6482 individuals who received next-generation sequencing of FH-associated genes as part of a proactive genetic test. Among individuals in the indication cohort, the median (interquartile range) age at testing was 49 (32-61) years, 55.4% (2528 of 4563) were female, and 63.6% (2902 of 4563) were self-reported White/Caucasian. In the indication cohort, the positive detection rate would have been 8.4% (382 of 4563) for a limited-variant screen compared with the 27.0% (1230 of 4563) observed with the next-generation sequencing-based comprehensive test. As a result, 68.9% (848 of 1230) of individuals with a P/LP finding in an FH-associated gene would have been missed by the limited screen. The potential for missed findings in the indication cohort varied by ancestry; among individuals with a P/LP finding, 93.7% (59 of 63) of self-reported Black/African American individuals and 84.7% (122 of 144) of Hispanic individuals would have been missed by the limited-variant screen, compared with 33.3% (4 of 12) of Ashkenazi Jewish individuals. In the proactive cohort, the prevalence of clinically significant FH variants was approximately 1:191 per the comprehensive test, and 61.8% (21 of 34) of individuals with an FH-associated P/LP finding would have been missed by a limited-variant screen. Conclusions and Relevance: Limited-variant screens may falsely reassure the majority of individuals at risk for FH that they do not carry a disease-causing variant, especially individuals of self-reported Black/African American and Hispanic ancestry.

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.

The Elevated High-Sensitivity Cardiac Troponin T Pilot: Diagnoses and Outcomes.

OBJECTIVE: To identify the diagnoses and outcomes associated with elevated high sensitivity cardiac troponin T (hs-cTnT) compared with the 4th-generation troponin T and to validate the Mayo Clinic hs-cTnT myocardial infarction algorithm cutoff values. PATIENTS AND METHODS: Consecutive blood samples of patients presenting to the emergency department between July 2017 and August 2017, who had 4th-generation troponin T, were also analyzed using the hs-cTnT assay. Troponin T values, discharge diagnoses, comorbidities, and outcomes were assessed. In addition, analyses of sex-specific and hs-cTnT cutoff values were assessed. RESULTS: Of 830 patients, 32% had an elevated 4th-generation troponin T, whereas 64% had elevated hs-cTnT. With serial sampling, 4th-generation troponin missed a chronic myocardial injury pattern and acute myocardial injury pattern in 64% and 16% of patients identified with hs-cTnT, respectively. Many of these "missed" patients had discharge diagnoses associated with cardiovascular disease, infection, or were postoperative. Five of the 6 patients with unstable angina ruled in for myocardial infarction. CONCLUSION: There were many increases in hs-cTnT that were missed by the 4th-generation cTnT assay. Most new increases are not related to acute cardiac causes. They were more consistent with chronic myocardial injury. High-sensitivity cTnT did reclassify most patients with unstable angina as having non-ST-elevation myocardial infarction. Older age, more comorbidities, and lower hemoglobin were associated with elevated hs-cTnT. Our data also support the use of our sex-specific cutoff values.

Underdiagnosis of obesity in pediatric clinical care settings among children born preterm: a retrospective cohort study.

BACKGROUND: Neonatal care of preterm infants may include dietary approaches such as high calorie formulas to promote physical growth. However, continuing growth-promoting strategies beyond the point of necessity, coupled with poverty and food insecurity which are more common among families of children born preterm, may increase the risk of obesity. Because children born preterm tend to have more pressing health conditions that require ongoing care, obesity may go undiagnosed by providers. METHODS: This retrospective cohort study included 38,849 children (31,548 term, 7301 preterm) born from 2010 to 2015, who received clinical care at a large pediatric medical center (Ohio, USA). Electronic medical record data, linked to Ohio birth certificates, were used to identify children with measured obesity (≥2 weight-for-length values ≥95th percentile before 24 months of age or BMI values ≥95th percentile at or after 24 months of age). Children were considered to have diagnosed obesity if their medical record had an obesity-related phrase or billing code recorded. Modified Poisson regression was used to compare risk of obesity undiagnosis among obese children born preterm versus at term. RESULTS: In total, 13,697 children had measured obesity, 10,273 (75%) of which were undiagnosed. Children born preterm with measured obesity were 8% more likely to be undiagnosed compared to children born at term (adjusted relative risk = 1.08 95% CI 1.05, 1.11). The risk was slightly higher for preterm children born to white women or born to women with higher educational attainment. For both groups, Primary Care and subspecialist clinics were the most common settings for undiagnosed obesity (74.9% and 16.8% of undiagnosed cases, respectively). CONCLUSIONS AND RELEVANCE: Preterm birth was associated with increased risk of undiagnosed obesity in early childhood. This highlights the need to enhance obesity screening in the preterm population and to further explore reasons for this disparity.