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.

A gene pathogenicity tool "GenePy" identifies missed biallelic diagnoses in the 100,000 Genomes Project.

PURPOSE: The 100,000 Genomes Project diagnosed a quarter of affected participants, but 26% of diagnoses were not on the applied gene panel(s); with many being de novo variants. Assessing biallelic variants without a gene panel is more challenging. METHODS: We sought to identify missed biallelic diagnoses using GenePy, which incorporates allele frequency, zygosity, and a user-defined deleterious metric, generating an aggregate GenePy score per gene, per participant. We calculated GenePy scores for 2862 recessive disease genes in 78,216 100,000 Genomes Project participants. For each gene, we ranked participant GenePy scores and scrutinized affected participants without a diagnosis, whose scores ranked among the top 5 for each gene. In cases which participant phenotypes overlapped with the disease gene of interest, we extracted rare variants and applied phase, ClinVar, and ACMG classification. RESULTS: 3184 affected individuals without a molecular diagnosis had a top-5-ranked GenePy score and 682 of 3184 (21%) had phenotypes overlapping with a top-ranking gene. In 122 of 669 (18%) phenotype-matched cases (excluding 13 withdrawn participants), we identified a putative missed diagnosis (2.2% of all undiagnosed participants). A further 334 of 669 (50%) cases have a possible missed diagnosis but require functional validation. CONCLUSION: Applying GenePy at scale has identified 456 potential diagnoses, demonstrating the value of novel diagnostic strategies.

Pharyngo-tonsillar involvement of Mpox in a cohort of men who have sex with men (MSM): A serious risk of missing diagnosis.

During the 2022-outbreak, peculiar clinical presentations of Mpox have been described, some of which can make the diagnosis of the disease extremely challenging. Here we report a case series of fourteen patients with Mpox pharynogotonsillar involvement (PTI) seen at National Institute for Infectious Diseases, "Lazzaro Spallanzani", in Rome, Italy from May to September 2022. All included patients were men who have sex with men (median age 38 years) reporting unprotected sex within three weeks from symptoms onset. Seven out of fourteen patients needed hospitalization due to uncontrolled pain, reduced airspace and difficulty swallowing, of whom five were effectively treated with tecovirimat or cidofovir. The remaining two patients were treated with symptomatic drugs. The typical Mpox muco-cutaneous manifestations were not observed simultaneously with PTI in three patients, two of whom developed the lesions after several days, while one never manifested them. Polymerase Chain Reaction (PCR) for Mpox virus was positive in oropharyngeal swab, saliva and serum. Although PTI occurs in only a small percentage of Mpox cases, its diagnosis is of utmost importance. In fact, this localization, if not identified, could lead to serious complications in the absence of early antiviral treatment and to missed diagnosis with an increased risk of disease transmission.

Patient perspectives on barriers to obtaining surgery for primary hyperparathyroidism: A qualitative review.

BACKGROUND: The purpose of this study was to qualitatively explore patient-reported barriers to surgery for primary hyperparathyroidism (PHPT) and identify actionable interventions to improve access to surgical care. METHODS: We recruited forty-nine patients in an endocrine surgery clinic at a large, academic medical to participate in an 11- question phone interview. All interviewees underwent parathyroidectomy for primary hyperparathyroidism. Responses were recorded and a codebook of qualitative themes, blinded to patient race and sex, was created by 3 independent reviewers. Comments were subsequently sorted into the codebook with patient demographic information. RESULTS: Patients that experienced delays in parathyroidectomy most commonly cited "issues with the referral process" and "missed diagnosis" as the cause. Patients were asked to identify the most challenging part about the surgery process. Commonly evoked themes among patients of both races and sexes included "transportation" and "financial" with subthemes of "no ride," "distance from surgeon," "insurance," and "difficulty taking time off work." Patients were asked to name actionable interventions to improve access to surgical care. The most commonly evoked theme involved "support systems," with subthemes of "transportation assistance," "financial," and "patient advocacy." Physician factors were also commonly evoked among patients of both races with subthemes of "knowledge", "communication," and "listening." CONCLUSION: PHPT patients cited multiple barriers to undergoing surgery. Future work can focus on examining these questions with a larger patient cohort and examining delays at the referral and diagnosis stage, which was most commonly cited by our respondents.

Missed diagnosis of Fabry disease: should we screen patients with multiple sclerosis?

INTRODUCTION: Fabry disease (FD) can be undiagnosed in the context of multiple sclerosis (MS) due to similar clinical and paraclinical features. Our study aimed to determine the prevalence (and the necessity of screening) of FD among patients with possible or definite MS. METHODS: In this prospective monocentric observational study, we included consecutive patients enrolled between May 2017 and May 2019 after the first clinical event suggestive of MS. All patients underwent FD screening using dried blood spots in a stepwise manner combining genetic and enzyme testing. Patients were followed until May 2022. RESULTS: We included 160 patients (73.1% female, mean age 33.9 years). The 2017 revised McDonald's criteria for definite MS were fulfilled by 74 (46.3%) patients at the time of study recruitment and 89 (55.6%) patients after 3-5 years of follow-up. None of the patients had a pathogenic GLA variant, and four (2.5%) had a variant of unknown significance (p.A143T, p.S126G, 2 × p.D313Y). In two of these patients, the intrathecal synthesis of oligoclonal bands was absent, and none had hyperproteinorachia or pleocytosis in cerebrospinal fluid. Detailed examination of FD organ manifestations revealed only discrete ocular and kidney involvement in two patients. CONCLUSION: The prevalence of FD in the population of suspected or definite MS patients does not appear to be high. Our results do not support routine FD screening in all patients with a possible diagnosis of MS, but there is an urgent need to search for red flags and include FD in the differential diagnosis of MS.

Low Perfusion and Missed Diagnosis of Hypoxemia by Pulse Oximetry in Darkly Pigmented Skin: A Prospective Study.

BACKGROUND: Retrospective clinical trials of pulse oximeter accuracy report more frequent missed diagnoses of hypoxemia in hospitalized Black patients than White patients, differences that may contribute to racial disparities in health and health care. Retrospective studies have limitations including mistiming of blood samples and oximeter readings, inconsistent use of functional versus fractional saturation, and self-reported race used as a surrogate for skin color. Our objective was to prospectively measure the contributions of skin pigmentation, perfusion index (PI), sex, and age on pulse oximeter errors in a laboratory setting. METHODS: We enrolled 146 healthy subjects, including 25 with light skin (Fitzpatrick class I and II), 78 with medium (class III and IV), and 43 with dark (class V and VI) skin. We studied 2 pulse oximeters (Nellcor N-595 and Masimo Radical 7) in prevalent clinical use. We analyzed 9763 matched pulse oximeter readings (pulse oximeter measured functional saturation [Sp o2 ]) and arterial oxygen saturation (hemoximetry arterial functional oxygen saturation [Sa o2 ]) during stable hypoxemia (Sa o2 68%-100%). PI was measured as percent infrared light modulation by the pulse detected by the pulse oximeter probe, with low perfusion categorized as PI < 1%. The primary analysis was to assess the relationship between pulse oximeter bias (difference between Sa o2 and Sp o2 ) by skin pigment category in a multivariable mixed-effects model incorporating repeated-measures and different levels of Sa o2 and perfusion. RESULTS: Skin pigment, PI, and degree of hypoxemia significantly contributed to errors (bias) in both pulse oximeters. For PI values of 1.0% to 1.5%, 0.5% to 1.0%, and <0.5%, the P value of the relationship to mean bias or median absolute bias was <.00001. In lightly pigmented subjects, only PI was associated with positive bias, whereas in medium and dark subjects bias increased with both low perfusion and degree of hypoxemia. Sex and age was not related to pulse oximeter bias. The combined frequency of missed diagnosis of hypoxemia (pulse oximeter readings 92%-96% when arterial oxygen saturation was <88%) in low perfusion conditions was 1.1% for light, 8.2% for medium, and 21.1% for dark skin. CONCLUSIONS: Low peripheral perfusion combined with darker skin pigmentation leads to clinically significant high-reading pulse oximeter errors and missed diagnoses of hypoxemia. Darkly pigmented skin and low perfusion states are likely the cause of racial differences in pulse oximeter performance in retrospective studies.

Anemia In Pregnancy: Examining Missed Diagnoses and Racial Disparities in the Upper Midwest.

Anemia in pregnancy (AIP) is associated with poor maternal/fetal outcomes. The prevalence of AIP globally ranges from 44-53% and varies drastically depending on maternal race/ethnicity and other factors. Screening and treatment of AIP is disputed. This study is a retrospective review of electronic medical records (EMR) of pregnant adults over three years (2018-2020, inclusive) of Sanford Health, a large healthcare system in the upper Midwest. AIP was determined by either diagnosis or lab values (hemoglobin, hematocrit, and ferritin) overlapping with pregnancy. A missed diagnosis was characterized by confirmed anemia through lab values but lacking a diagnosis of anemia within EMR. A total of 35,498 patients were included in this study, 42.9% were determined to have AIP. Of AI/AN (American Indian/Alaska Native) patients, 58.3% were anemic and 55.1% of Black/African American patients were anemic compared to 40.0% of anemic white patients. Of anemic patients, 81.1% did not have an anemia diagnosis listed in EMR. This study identifies racial and ethnic disparities of AIP among patients in the upper Midwest. In addition, this study highlights the need for improved data integrity within EMR.

Misdiagnosis of chronic kidney disease and parathyroid hormone testing during the past 16 years.

Chronic kidney disease (CKD) is a prevalent pathological condition worldwide. Parathyroid hormone (PTH) is an important index related to bone metabolism in CKD patients and has not received enough attention. This study was performed to investigate the incidence and diagnostic rate of CKDin hospital as well as PTH testing and treatment for secondary hyperparathyroidism (SHPT) in patients with stage 3 to 5 CKD. The data of patients who visited Zhejiang Provincial People's Hospital from February 2006 to April 2022 were retrieved from the hospital database. All data were divided into three subgroups using PTH testing and SHPT treatment as major comparative indicators for analysis. The data were then analyzed for overall PTH testing, CKD incidence, and diagnostic rate. Among 5,301,391 patients, the incidence of CKD was 13.14%. The missed diagnosis rate for CKD was 65.76%. The total PTH testing rate was 1.22%, of which 15.37% of PTH testing was performed in patients with stage 3 to 5 CKD. The overall diagnosis rate of SHPT in patients with stage 3 to 5 CKD was 31.0%. The prophylactic medication rate was 7.4%, and the rate of post-diagnostic drug therapy was 22.2% in patients who underwent SHPT treatment. The high misdiagnosis rate and low PTH testing rate of CKD requires prompt attention from clinicians. SHPT treatment should be considered especially in patients with stage 3 to 5 CKD.

Potential missed diagnoses of Crohn's disease in tertiary care: impact on drug utilization and healthcare facilities use.

BACKGROUND: A missed diagnosis of Crohn's disease (CD) can delay treatment initiation with consequences on disease course. AIMS: To measure the possible impact of missed diagnoses on drug utilization and access to healthcare facilities in a real-world cohort of CD patients. METHODS: This retrospective observational study has been conducted on the regional administrative databases of Tuscany (Italy). We included patients with a first record of CD diagnosis between 06/11/2011 and 06/30/2016. Possible missed diagnosis (exposure) was defined by hospital presentation for gastrointestinal symptoms consistent with CD diagnosis that occurred in the 7-60 months preceding CD diagnosis. We compared exposed and non-exposed patients by assessing time-free from biologic drugs and from Emergency Department (ED) or hospital access. Hazard ratio (HR) was calculated using Cox models. RESULTS: Among 3342 CD patients, 584 (17.5%) had a possible missed diagnosis. A risk of being treated with biologic drugs [adjusted HR (aHR): 2.17, 95% CI: 1.75-2.71] and of access to ED or hospitalization (aHR: 1.59, 95% CI: 1.44-1.75) was observed in patients with a possible missed diagnosis as compared to those without. CONCLUSION: Tertiary care caregivers should be trained in the identification of early CD symptoms, to timely identify CD diagnosis and optimize pharmacological treatment and disease management.

A marked elevation in serum creatinine/cystatin C ratio may indicate pseudo-acute kidney injury due to urinary ascites: a case report and literature review.

BACKGROUND: Urinary ascites represents a scarcely observed pseudo-acute kidney injury in clinical settings. Protracted or missed diagnosis may hold grave ramifications for patient outcomes. CASE PRESENTATION: We reported a case involving an elderly female patient experiencing pseudo-acute kidney injury accompanied by ascites, wherein her renal dysfunction persisted despite medical intervention and hemodialysis. Urinary ascites was identified via a methylene blue test and by contrasting creatinine levels in serum and ascites. This patient's kidney function was multiple typified by a marked elevation in serum creatinine/Cystatin C ratio (> 2 L/dL), potentially serving as a clue for the clinical diagnosis of pseudo-acute kidney injury engendered by urinary ascites. CONCLUSIONS: This case suggested the potential diagnostic value of an asynchronous increase in serum creatinine and serum CysC (or an increased ratio of blood creatinine to blood CysC) in patients with pseudo-acute kidney injury.

Thoracic aortic dissection presenting with bilateral haemothoraces: a potentially missed diagnosis.

Thoracic aortic dissection is a life-threatening diagnosis, which should not be missed. We present a case in which a patient who presented to the emergency department with chest pain was assessed and referred for admission for treatment of pneumonia, due to misinterpretation of a chest radiograph finding. The patient was re-reviewed and subsequently underwent further investigation, which confirmed aortic dissection. She underwent emergency thoracic endovascular aortic graft repair with stent graft insertion. This case demonstrates haemothorax as an uncommon complication of aortic dissection.

Cross-Check QA: A Quality Assurance Workflow to Prevent Missed Diagnoses by Alerting Inadvertent Discordance Between the Radiologist and Artificial Intelligence in the Interpretation of High-Acuity CT Scans.

PURPOSE: The aim of this study was to implement and evaluate a quality assurance (QA) workflow that leverages natural language processing to rapidly resolve inadvertent discordance between radiologists and an artificial intelligence (AI) decision support system (DSS) in the interpretation of high-acuity CT studies when the radiologist does not engage with AI DSS output. METHODS: All consecutive high-acuity adult CT examinations performed in a health system between March 1, 2020, and September 20, 2022, were interpreted alongside an AI DSS (Aidoc) for intracranial hemorrhage, cervical spine fracture, and pulmonary embolus. CT studies were flagged for this QA workflow if they met three criteria: (1) negative results by radiologist report, (2) a high probability of positive results by the AI DSS, and (3) unviewed AI DSS output. In these cases, an automated e-mail notification was sent to our quality team. If discordance was confirmed on secondary review-an initially missed diagnosis-addendum and communication documentation was performed. RESULTS: Of 111,674 high-acuity CT examinations interpreted alongside the AI DSS over this 2.5-year time period, the frequency of missed diagnoses (intracranial hemorrhage, pulmonary embolus, and cervical spine fracture) uncovered by this workflow was 0.02% (n = 26). Of 12,412 CT studies prioritized as depicting positive findings by the AI DSS, 0.4% (n = 46) were discordant, unengaged, and flagged for QA. Among these discordant cases, 57% (26 of 46) were determined to be true positives. Addendum and communication documentation was performed within 24 hours of the initial report signing in 85% of these cases. CONCLUSIONS: Inadvertent discordance between radiologists and the AI DSS occurred in a small number of cases. This QA workflow leveraged natural language processing to rapidly detect, notify, and resolve these discrepancies and prevent potential missed diagnoses.

PET/CT imaging in invasive endometriosis: a way to minimize missed diagnosis and reduce invasive interventions.

INTRODUCTION: Heterogeneous and nonspecific symptoms make invasive endometriosis a difficult entity to diagnose. Small lesions with absent associated changes can be easily missed in cross-sectional imaging. Even when the lesions satisfy the thresholds for various investigations, their appearance changes with cyclical fluctuations in the hormonal levels. Therefore, newer approaches are needed to achieve correct diagnosis. METHODS: Six females in reproductive age group (mean age = 32.5 ±â€…4.3 years) were retrospectively selected, wherein the diagnosis of invasive endometriosis was confirmed after 18F-FDG-PET/CT. Indications for PET/CT were staging in 4 patients, suspected progression in 1 and suspected inflammatory bowel disease in one patient. The study was repeated in proliferative phase in two patients and in the menstrual phase in another patient. FNAC was available in two patients and a drop in CA125 was documented in the last patient. RESULTS: In five patients metabolically active lesions were seen in PET/CT and in the last, activity was absent despite symptoms. Repeat menstrual phase imaging in the last patient confirmed the diagnosis. In two patients with metabolically active lesions at baseline, resolution was seen in proliferative phase PET/CT. In the other two patients, repeat study was not indicated as FNAC revealed normal endometrial tissue and in the last patient, significant drop in CA125 was documented after just 2 weeks. In all of these patients, the final diagnosis was of invasive endometriosis. CONCLUSION: In reproductive-age women, PET/CT acquisition should be optimized in the context of menstrual cycle. This approach can be used to non-invasively rule in/rule out endometriosis, especially with repeat imaging in proper menstrual phase.

Fact or Artifact in Inferior ST Elevation-Avoiding Misdiagnosis and Missed Diagnosis.

This case report describes a patient in their 60s with a history of hypertension who experienced sudden chest pain radiating to the back and sweating for 2 hours without relief.

An Initially Missed Diagnosis of Venous Thromboembolic Phenomenon in Adult-Onset Still's Disease: A Case Report and Literature Review.

BACKGROUND Still's disease is a rare multisystemic autoinflammatory disorder. The diagnosis of adult-onset Still's disease (AoSD) can be challenging due to the rarity and overlapping features with many other systemic disorders. Complications of the illness can involve many systems in the human body. One of the least documented hematological complications of AoSD is thromboembolic phenomena. CASE REPORT This text outlines the presentation of a 43-year-old woman with a known diagnosis of AoSD, whose disease-modifying anti-rheumatic drugs (DMARDs) had been tapered and stopped due to remission. She presented with respiratory symptoms and features of an AoSD flare. Lack of complete improvement on antibiotic therapy and reinitiating of DMARDs prompted seeking an alternative/concurrent diagnosis. The work-up yielded a pulmonary embolism (PE) on the background of having no other risk factors for thrombosis. CONCLUSIONS In the reviewed literature, there is a close association between hyperferritinemia and AoSD complicated with venous thromboemboli (VTEs). A rigorous search for alternative diagnoses as well as other potential uncommon complications of AoSD is needed when working-up patients with AoSD, especially those that are not getting better on therapy. Given the rarity of AoSD, meticulous data collection may be useful in understanding the pathophysiology and features of presentation of the illness, including complications such as VTEs.

OUTCOMES OF MISSED DIAGNOSIS OF PEDIATRIC APPENDICITIS, NEW-ONSET DIABETIC KETOACIDOSIS, AND SEPSIS IN FIVE PEDIATRIC HOSPITALS.

BACKGROUND: Missed diagnosis can predispose to worse condition-specific outcomes. OBJECTIVE: To determine 90-day complication rates and hospital utilization after a missed diagnosis of pediatric appendicitis, new-onset diabetic ketoacidosis (DKA), and sepsis. METHODS: We evaluated patients under 21 years of age visiting five pediatric emergency departments (EDs) with a study condition. Case patients had a preceding ED visit within 7 days of diagnosis and underwent case review to confirm a missed diagnosis. Control patients had no preceding ED visit. We compared complication rates and utilization between case and control patients after adjusting for age, sex, and insurance. RESULTS: We analyzed 29,398 children with appendicitis, 5366 with DKA, and 3622 with sepsis, of whom 429, 33, and 46, respectively, had a missed diagnosis. Patients with missed diagnosis of appendicitis or DKA had more hospital days and readmissions; there were no significant differences for those with sepsis. Those with missed appendicitis were more likely to have abdominal abscess drainage (adjusted odds ratio [aOR] 3.0, 95% confidence interval [CI] 2.4-3.6) or perforated appendicitis (aOR 3.1, 95% CI 2.5-3.8). Those with missed DKA were more likely to have cerebral edema (aOR 4.6, 95% CI 1.5-11.3), mechanical ventilation (aOR 13.4, 95% CI 3.8-37.1), or death (aOR 28.4, 95% CI 1.4-207.5). Those with missed sepsis were less likely to have mechanical ventilation (aOR 0.5, 95% CI 0.2-0.9). Other illness complications were not significantly different by missed diagnosis. CONCLUSIONS: Children with delayed diagnosis of appendicitis or new-onset DKA had a higher risk of 90-day complications and hospital utilization than those with a timely diagnosis.

Risk factors for misdiagnosis in children with developmental dysplasia of the hip: a retrospective single centre study.

OBJECTIVE: To investigate risk factors of misdiagnosis at the first visit of children with developmental dysplasia of the hip (DDH) who did not participate in hip ultrasound screening. METHODS: A retrospective review was conducted on children with DDH admitted to a tertiary hospital in northwestern China between January 2010 and June 2021. We divided the patients into the diagnosis and misdiagnosis groups according to whether they were diagnosed at the first visit. The basic information, treatment process and medical information of the children were investigated. We made a line chart of the annual misdiagnosis rate to observe the trend in the annual misdiagnosis rate. Univariate and multivariate logistic regression analyses were used to identify significant risk factors for missed diagnosis. RESULTS: A total of 351 patients met the inclusion criteria, including 256 (72.9%) patients in the diagnosis group and 95 (27.1%) patients in the misdiagnosis group. The line chart of the annual rate of misdiagnoses among children with DDH from 2010 to 2020 showed no significant change trend. Multiple logistic regression analysis showed that the paediatrics department (v the paediatric orthopaedics department: OR 0.21, p<0.001), the general orthopaedics department (v the paediatric orthopaedics department: OR 0.39, p=0.006) and the senior physician (v the junior physician: OR 2.47, p=0.006) on the misdiagnosis at the first visit of children were statistically significant. CONCLUSION: Children with DDH without hip ultrasound screening are prone to be misdiagnosed at their first visit. The annual misdiagnosis rate has not been significantly reduced in recent years. The department and title of the physician are independent risk factors for misdiagnosis.