Syndromic case definitions for lower respiratory tract infection (LRTI) are less sensitive in older age: an analysis of symptoms among hospitalised adults.

BACKGROUND: Lower Respiratory Tract Infections (LRTI) pose a serious threat to older adults but may be underdiagnosed due to atypical presentations. Here we assess LRTI symptom profiles and syndromic (symptom-based) case ascertainment in older (≥ 65y) as compared to younger adults (< 65y). METHODS: We included adults (≥ 18y) with confirmed LRTI admitted to two acute care Trusts in Bristol, UK from 1st August 2020- 31st July 2022. Logistic regression was used to assess whether age ≥ 65y reduced the probability of meeting syndromic LRTI case definitions, using patients' symptoms at admission. We also calculated relative symptom frequencies (log-odds ratios) and evaluated how symptoms were clustered across different age groups. RESULTS: Of 17,620 clinically confirmed LRTI cases, 8,487 (48.1%) had symptoms meeting the case definition. Compared to those not meeting the definition these cases were younger, had less severe illness and were less likely to have received a SARS-CoV-2 vaccination or to have active SARS-CoV-2 infection. Prevalence of dementia/cognitive impairment and levels of comorbidity were lower in this group. After controlling for sex, dementia and comorbidities, age ≥ 65y significantly reduced the probability of meeting the case definition (aOR = 0.67, 95% CI:0.63-0.71). Cases aged ≥ 65y were less likely to present with fever and LRTI-specific symptoms (e.g., pleurisy, sputum) than younger cases, and those aged ≥ 85y were characterised by lack of cough but frequent confusion and falls. CONCLUSIONS: LRTI symptom profiles changed considerably with age in this hospitalised cohort. Standard screening protocols may fail to detect older and frailer cases of LRTI based on their symptoms.

A missed case of intraductal oncocytic papillary neoplasm associated with missed stones in extrahepatic bile duct: a case report.

The pathological features of intraductal oncocytic papillary neoplasm (IOPN) of the bile duct include tumor cells that are rich in eosinophilic cytoplasm and arranged in papillary structures. Herein, we report a missed case of IOPN of the bile duct because of concomitant gallstones. A 70-year-old woman was hospitalized with upper abdominal discomfort. The primary diagnosis was choledocholithiasis following imaging examination. However, an unidentified mass was detected after the gallstones were removed. The mass appeared as many papillary protuberances surrounded by fish-egg-like mucosa when viewed by the choledochoscope and was confirmed as IOPN by pathological examination. The patient underwent choledochectomy and no recurrence was observed at the 6-month follow-up examination. In this report, peroral choledochoscopy demonstrated its advantages for the diagnosis of biliary diseases and acquisition of tissue specimens. Therefore, it may solve the challenge related to the lack of preoperative pathological evidence for bile duct tumors.

"Air Sign" in Misdiagnosed Mandibular Fractures Based on CT and CBCT Evaluation.

BACKGROUND: Diagnostic errors constitute one of the reasons for the improper and often delayed treatment of mandibular fractures. The aim of this study was to present a series of cases involving undiagnosed concomitant secondary fractures in the mandibular body during preoperative diagnostics. Additionally, this study aimed to describe the "air sign" as an indirect indicator of a mandibular body fracture. METHODS: A retrospective analysis of CT/CBCT scans conducted before surgery was performed on patients misdiagnosed with a mandibular body fracture within a one-year period. RESULTS: Among the 75 patients who underwent surgical treatment for mandibular fractures, mandibular body fractures were missed in 3 cases (4%) before surgery. The analysis of CT/CBCT before surgery revealed the presence of an air collection, termed the "air sign", in the soft tissue adjacent to each misdiagnosed fracture of the mandibular body. CONCLUSIONS: The "air sign" in a CT/CBCT scan may serve as an additional indirect indication of a fracture in the mandibular body. Its presence should prompt the surgeon to conduct a more thorough clinical examination of the patient under general anesthesia after completing the ORIF procedure in order to rule-out additional fractures.

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.

Initial User-Centred Design of an AI-Based Clinical Decision Support System for Primary Care.

A clinical decision support system based on different methods of artificial intelligence (AI) can support the diagnosis of patients with unclear diseases by providing tentative diagnoses as well as proposals for further steps. In a user-centred-design process, we aim to find out how general practitioners envision the user interface of an AI-based clinical decision support system for primary care. A first user-interface prototype was developed using the task model based on user requirements from preliminary work. Five general practitioners evaluated the prototype in two workshops. The discussion of the prototype resulted in categorized suggestions with key messages for further development of the AI-based clinical decision support system, such as the integration of intelligent parameter requests. The early inclusion of different user feedback facilitated the implementation of a user interface for a user-friendly decision support system.

Japanese Internists' Most Memorable Diagnostic Error Cases: A Self-reflection Survey.

Objective The etiologies of diagnostic errors among internal medicine physicians are unclear. To understand the causes and characteristics of diagnostic errors through reflection by those involved in them. Methods We conducted a cross-sectional study using a web-based questionnaire in Japan in January 2019. Over a 10-day period, a total of 2,220 participants agreed to participate in the study, of whom 687 internists were included in the final analysis. Participants were asked about their most memorable diagnostic error cases, in which the time course, situational factors, and psychosocial context could be most vividly recalled and where the participant provided care. We categorized diagnostic errors and identified contributing factors (i.e., situational factors, data collection/interpretation factors, and cognitive biases). Results Two-thirds of the identified diagnostic errors occurred in the clinic or emergency department. Errors were most frequently categorized as wrong diagnoses, followed by delayed and missed diagnoses. Errors most often involved diagnoses related to malignancy, circulatory system disorders, or infectious diseases. Situational factors were the most cited error cause, followed by data collection factors and cognitive bias. Common situational factors included limited consultation during office hours and weekends and barriers that prevented consultation with a supervisor or another department. Conclusion Internists reported situational factors as a significant cause of diagnostic errors. Other factors, such as cognitive biases, were also evident, although the difference in clinical settings may have influenced the proportions of the etiologies of the errors that were observed. Furthermore, wrong, delayed, and missed diagnoses may have distinctive associated cognitive biases.

Granulomatous lobular mastitis co-existing with ductal carcinoma in situ: Report of three cases and review of the literature.

Granulomatous lobular mastitis (GLM) is a benign and infrequent chronic breast ailment. Although this lesion can be clinically and radiographically mistaken for early-onset breast cancer, it is a rare occurrence for the two to coexist. This report describes three such cases. In all three patients, the primary signs and symptoms were related to the formation of diffuse breast masses or abscesses. Breast ultrasound and MRI revealed glandular edema and dilated breast ducts. The biopsies of all lesions exhibited both granulomatous inflammation confined to the lobules of the breast, abundant interstitial inflammatory cell infiltrates, and apparently cancerous cells located in dilated ducts with intact basement membranes. The surgically excised specimens confirmed the diagnosis of GLM and ductal carcinoma in situ (DCIS) in all three patients who underwent breast mass resection. By clinical imaging and clinical manifestations, GLM may obscure a concurrent DCIS, as highlighted by the cases reported herein.

Identification of cryptic balanced translocations in couples with unexplained recurrent pregnancy loss based upon embryonic PGT-A results.

PURPOSE: The goal of this study is to determine whether any balanced translocation (BT) had been missed by previous karyotyping in patients with unexplained recurrent pregnancy loss (uRPL). METHODS: This case series included 48 uRPL-affected couples with normal karyotypes. The embryos from these couples have all undergone preimplantation testing for aneuploidies (PGT-A). Based on the PGT-A's results, 48 couples could be categorized into two groups: 17 couples whose multiple embryos were detected with similar structural variations (SVs, segmental/complete) and 31 couples without such findings but who did not develop any euploid embryo despite at least three high-quality blastocysts being tested. The peripheral blood sample of each partner was then collected for mate-pair sequencing (MPseq) to determine whether any of them were BT carriers. RESULTS: MPseq analyses identified 13 BTs in the 17 couples whose multiple embryos had similar SVs detected (13/17, 76.47%) and three BTs in the 31 couples without euploid embryo obtained (3/31, 9.7%). Among the 16 MPseq-identified BTs, six were missed due to the limited resolution of G-banding karyotyping analysis, and the rest were mostly owing to the similar banding patterns and/or comparable sizes shared by the two segments exchanged. CONCLUSION: A normal karyotype does not eliminate the possibility of carrying BT for couples with uRPL. The use of PGT-A allows us to perceive the "carrier couples" missed by karyotyping analysis, providing an increased risk of finding cryptic BTs if similar SVs are always detected on two chromosomes among multiple embryos. Nonetheless, certain carriers with translocated segments of sub-resolution may still go unnoticed.

Misdiagnosis of Acute Appendicitis in the Emergency Department: Prevalence, Associated Factors, and Outcomes According to the Patients' Disposition.

Background: Although abdominal pain is one of the most common complaints of patients presenting to the emergency department (ED), and acute appendicitis is a leading surgical differential diagnosis of patients presenting with abdominal pain, the diagnosis of acute appendicitis remains challenging. We examined the missed diagnosis rate of acute appendicitis in one ED and evaluated the association between disposition (discharge home or hospitalization in the wrong department) and complicated appendicitis. Methods: We retrospectively evaluated the medical records of patients with acute appendicitis and periappendicular abscess from January 1, 2013, to December 31, 2016. Results: The diagnosis of acute appendicitis was missed in 7.1% of patients (90/1,268) at their first ED encounter: 44 were discharged, and 47 were hospitalized with a wrong diagnosis (1 female patient was both discharged and then hospitalized with an incorrect diagnosis). Compared to the patients who were correctly diagnosed, patients with a missed diagnosis were older (median age 29 years vs 23 years, P=0.022), their time between ED first encounter and surgery was longer (median 29.5 hours vs 9.3 hours, P<0.001), and their rate of complicated appendicitis was higher (54.4% vs 27.5%, P<0.001). Missed females were more commonly hospitalized (26/39), while missed males were more commonly discharged from the ED (31/52) (P=0.019). No differences in the time between the first ED encounter and surgery (29.6 hours vs 29.6 hours, P=0.29) and the rate of complicated appendicitis (63.8% vs 43.2%, P=0.06) were noted between hospitalized patients with a wrong diagnosis and those discharged from the ED. Of the 25 patients with periappendicular abscesses, only 3 could be related to missed diagnoses during their first encounter in the ED. Conclusion: We found that 7.1% of patients were missed during their first encounter in the ED. Hospitalization in departments other than general surgery was not protective against delay in surgery or the development of complicated appendicitis. Periappendicular abscess was attributable to late referral rather than a missed diagnosis in most patients.

Challenging Diagnosis of Lytic Bone Lesions Between Multiple Myeloma and Bone Metastasis of Primary Breast Cancer.

Lytic bone lesions include various differential diagnoses, such as bone metastasis of cancer, multiple myeloma, primary bone cancers, and infections. Here, we report a rare case of primary breast cancer complicated by lytic bone lesions mimicking bone metastasis, which was subsequently diagnosed as multiple myeloma. Despite the development of several imaging modalities, such as magnetic resonance imaging and positron emission tomography/computed tomography, diagnosing lytic bone lesions with either multiple myeloma or tumor metastasis is highly challenging. Urinalysis is a noninvasive diagnostic method that includes useful diagnostic information; thus, physicians should evaluate urine protein levels when lytic bone lesions are observed.

CASE REPORT OF IDIOPATHIC NORMAL PRESSURE HYDROCEPHALUS: A CHALLENGING DIAGNOSIS.

Introduction: This report concerns the case of a 70-year-old man with idiopathic normal pressure hydrocephalus (iNPH). The diagnosis in the current case took more than 2 years. iNPH is characterised by ventriculomegaly with a known triad of symptoms: gait disturbance, cognitive impairments and urinary incontinence. Although this is a difficult diagnosis and other conditions must be ruled out, several points in the process could lead to a correct diagnosis. The aim of the report is to identify several reasons why the diagnosis was delayed for such a long time, as well as lessons for the future. Case: This patient developed several symptoms over time. First, he presented with depressive mood and altered behaviour. He later developed gait difficulties and, finally, urinary incontinence. Multiple consultations and examinations failed to provide an exact explanation for all his symptoms. After 2 years, a new doctor at the hospital started from scratch and recognised the iNPH triad, and the diagnosis was confirmed by the radiologist. Conclusion: The diagnosis of iNPH is difficult, as symptoms may manifest over time. In this case, the delay of diagnosis exceeded estimations. A broader view through interdisciplinary consultation could provide new insights and lead to earlier diagnosis.

Strangulated Gastric Hernia Following a Missed Traumatic Diaphragmatic Injury: A Case Report.

Traumatic diaphragmatic injuries (TDIs) are rare and can be life-threatening, depending on the size of the injury and the contents herniating through it. They usually result from blunt or penetrating trauma to the thoracoabdominal area, with an incidence of 0.8-5% and up to 30% presenting late. A high index of suspicion should be maintained when evaluating patients with a history of trauma (severe blunt or thoracoabdominal penetrating trauma) and upper abdominal symptoms. We present a case of a missed TDI after a left posterior thoracoabdominal stab injury, which was evaluated with a diagnostic laparoscopy at an outside hospital. He presented to our emergency department (ED) with sudden onset left-sided chest pain and uncontrollable vomiting. A CT scan was obtained and showed a distended stomach herniating through a defect in the left hemidiaphragm. The patient was immediately taken for laparoscopic exploration and repair. There was a 5 cm defect in the left posterolateral diaphragm containing a strangulated stomach (approximately ⅔) and necrotic omentum. Complete reduction was achieved and the diaphragmatic defect was repaired primarily. His postoperative course was uncomplicated. This case illustrates the importance of maintaining a high index of suspicion for TDI, despite reports of previous exploration. Missed TDI can present with herniated intra-abdominal organs, which can become strangulated and increase morbidity and mortality.

Thyrotoxic Periodic Paralysis as an Ongoing Diagnostic Challenge: A Case Report and Literature Review.

Thyrotoxic periodic paralysis (TPP) is a rare condition that presents with episodic periodic paralysis due to hypokalemia that develops from hyperthyroidism. Timely diagnosis is still an ongoing challenge due to lack of awareness, self-resolving episodes, and the fact that it clinically mimics familial hypokalemic periodic paralysis (FHPP), which is more common in the West. TPP is more commonly seen among Asians but has been emerging in Western countries due to globalization. We present a case of a 24-year-old Hispanic male who presented with bilateral lower extremity weakness. He had five such episodes in the past year, which resolved on their own. The current episode of weakness was worse, and he required a wheelchair to ambulate. Despite extensive work, it took over four months to make a definitive diagnosis and treat his hyperthyroidism. A literature review reported that most cases of TPP are usually diagnosed after multiple episodes, and the causes of diagnostic error were studied. Through this review, we present a case of TPP with diagnostic delay, a literature review discussing the etiology, pathogenesis, clinical manifestations, and management, with an emphasis on the diagnostic challenge of TPP. Awareness of this condition, timely evaluation for hyperthyroidism as a cause for hypokalemic periodic paralysis, and understanding the factors that contribute to its diagnostic challenge will aid in timely recognition and treatment.

Detection of diabetic patients in people with normal fasting glucose using machine learning.

BACKGROUND: Diabetes mellitus (DM) is a chronic metabolic disease that could produce severe complications threatening life. Its early detection is thus quite important for the timely prevention and treatment. Normally, fasting blood glucose (FBG) by physical examination is used for large-scale screening of DM; however, some people with normal fasting glucose (NFG) actually have suffered from diabetes but are missed by the examination. This study aimed to investigate whether common physical examination indexes for diabetes can be used to identify the diabetes individuals from the populations with NFG. METHODS: The physical examination data from over 60,000 individuals with NFG in three Chinese cohorts were used. The diabetes patients were defined by HbA1c ≥ 48 mmol/mol (6.5%). We constructed the models using multiple machine learning methods, including logistic regression, random forest, deep neural network, and support vector machine, and selected the optimal one on the validation set. A framework using permutation feature importance algorithm was devised to discover the personalized risk factors. RESULTS: The prediction model constructed by logistic regression achieved the best performance with an AUC, sensitivity, and specificity of 0.899, 85.0%, and 81.1% on the validation set and 0.872, 77.9%, and 81.0% on the test set, respectively. Following feature selection, the final classifier only requiring 13 features, named as DRING (diabetes risk of individuals with normal fasting glucose), exhibited reliable performance on two newly recruited independent datasets, with the AUC of 0.964 and 0.899, the balanced accuracy of 84.2% and 81.1%, the sensitivity of 100% and 76.2%, and the specificity of 68.3% and 86.0%, respectively. The feature importance ranking analysis revealed that BMI, age, sex, absolute lymphocyte count, and mean corpuscular volume are important factors for the risk stratification of diabetes. With a case, the framework for identifying personalized risk factors revealed FBG, age, and BMI as significant hazard factors that contribute to an increased incidence of diabetes. DRING webserver is available for ease of application ( http://www.cuilab.cn/dring ). CONCLUSIONS: DRING was demonstrated to perform well on identifying the diabetes individuals among populations with NFG, which could aid in early diagnosis and interventions for those individuals who are most likely missed.

Lisfranc Injury: Recent Trends in Management.

Lisfranc injury refers to a group of bony or ligamentous injuries in which one or more of the metatarsals are displaced with respect to the tarsus. These injuries can occur as a result of either high-energy trauma like motor vehicle accidents and falls from height, or low-energy trauma from sports activities. A significant proportion of Lisfranc injuries are missed initially. The effects of delayed and missed diagnosed cases can be devastating as patients may develop progressive midfoot instability, collapse of arch, abduction of forefoot, and post-traumatic osteoarthritis, which can cause chronic pain, stiffness, and foot and ankle complex dysfunction. Favourable outcomes are associated with early diagnosis and prompt treatment. Open reduction and internal fixation (ORIF) with arthrodesis has better results than ORIF alone in functional outcomes. Dorsal bridge plates are currently the preferred mode of fixation due to advantages over trans-articular screws.

A Case of Ultrasound Suspected Microcephaly With a Normal Head Circumference at Birth.

A 25-year-old first-time mother from Nepal had a well-progressing spontaneous pregnancy. However, from the 37th week, her baby's biparietal diameter (BPD) stopped growing at around 83 mm. At 40 weeks, measurements suggested possible microcephaly and fetal growth failure but no other abnormalities. No travel, infections, or cytomegalovirus were identified prenatally. By 41 weeks, the BPD and head circumference (HC) decreased further, while the estimated fetal birth weight (EFBW) slightly increased. The baby girl was born at 41 weeks and 1 day with a low birth weight but a normal head circumference. Postnatal checks showed no abnormalities, and she was discharged with normal growth at 10 days old.

Delays in the diagnosis of ischaemic stroke presenting with persistent reduced level of consciousness: A systematic review.

INTRODUCTION: Stroke presenting with a reduced level of consciousness (RLOC) may result in diagnostic error and/or delay. Missed or delayed diagnosis of acute ischaemic stroke may preclude otherwise applicable hyperacute stroke interventions. The frequency, reasons for, and consequences of diagnostic error and delay due to RLOC are uncertain. METHOD: The databases PubMed, EMBASE, and Cochrane library were searched in adherence with the PRISMA guidelines. The systematic review was prospectively registered on PROSPERO. RESULTS: Initial searches returned 1162 results, of which 6 fulfilled inclusion criteria. The majority of identified studies show that ischaemic stroke presenting with RLOC is at increased risk of missed or delayed diagnosis. Hyperacute stroke interventions may also be delayed. There is limited evidence regarding the reason for these delays; however, the delays may result from neuroimaging delay associated with diagnostic uncertainty. There is also limited evidence regarding the outcomes of patients with stroke and RLOC who experience diagnostic delay; however, the available literature suggests that outcomes may be poor, including motor and cognitive impairment, as well as long-term impaired consciousness. The included studies did not evaluate, but have suggested urgent MRI access, educational interventions, and protocolisation of the evaluation of RLOC as means to reduce poor outcomes. CONCLUSIONS: Ischaemic stroke patients with RLOC are at risk of diagnostic delay and error. These patients may have poor outcomes. Additional research is required to identify the contributing factors more clearly and to provide amelioration strategies.

A Case of Intramuscular Lipoma of Thenar Eminence With a Short Review of Published Hand Lipoma Case Reports.

Lipoma is a common soft tissue tumour in the human body, but at the same time is very rare in the palm and rarer still in the thenar region. These lipomas in the hand can give rise to various problems such as cosmetic, functional, and neurological compromise among others and removing them becomes important when symptomatic. Diagnosing a hand pathology becomes important as a missed diagnosis can have long-term functional consequences for a patient. In the case report, we discuss a hand palmar prominence which presented as an effusion and later turned out to be a large lipoma. Further, we also present a literature review of published thenar lipoma cases to throw light on the nuances of this rare pathology location, which, to our knowledge, has not been done comprehensively.

For Medical Directors: Case Report of a Missed Wooden Foreign Body in the Forehead.

Traumatic wounds, often contaminated with foreign material, are a common presenting complaint in the emergency setting. Unfortunately, embedded foreign material can go initially undetected or not be fully removed, leading to morbidity and becoming a common cause of medical malpractice claims. Here, we present a case of a missed wooden foreign body, including associated risk factors, potential contributing cognitive errors, recommendations to avoid such errors, and finally, a description of the case's resolution. In addition, we will present steps taken after the error was recognized that would provide a better understanding to the patient and entail a "blameless" education plan to the team of clinicians. Developing a sincere and authentic connection with the patient and their family after the unexpected outcome is crucial. Additionally, these cases are outstanding learning tools for the individual clinician, as well as, the rest of the providers if processed in a non-blaming and educational manner.