Risk Of Misdiagnosis Research Articles

The impact of early use of echocardiography performed by non-cardiologist in patients with chest pain - the ENDEMIC study

Abstract Background Echocardiography is well-established method in management of chest pain at Emergency department (ED). However, evidence on the optimal scope of the examination and the education of the examiner is scarce. Early point of care echocardiography (POCE) by ED physician can speed up the diagnostic process compared to echocardiography performed by dedicated specialist, at the cost of a higher risk of misdiagnosis. Purpose Primary objective was to assess the impact of POCE on length of stay on emergency department (ED). Secondary objectives were to evaluate the impact of POCE on time to revascularization and on the accuracy of the diagnosis at the initial examination. Methods ENDEMIC study is a prospective, randomised, open-label, single centre study. Prior to enrolment, physicians without any previous experiences with POCE were educated according to BSE standard level 1. Patients examined for chest pain of uncertain etiology were enrolled into the study and randomised in even-odd manner for POCE within 90 minutes or for usual management. In all patients the length of ED stay, time to coronary angiography and accuracy of working diagnosis. Length of ED stay was defined as time form first contact of the patient with ED to the moment when the patient physically leaved the ward. Time to revascularization was retrieved from patient´s medical records and confirmed by telephonic visit. A working diagnosis was considered accurate if it shared both pathophysiological mechanism and diagnostic criteria with the final diagnosis. All POCE examinations were recorded and revised by certified echocardiography specialist for errors. Results The study was early terminated after enrolment of 150 patients, because main objectives were met. The use of POCE resulted in a significant shortening of both time of decision (138.0 [68.5−230.5] min vs. 252.0 [165.5−304.0], p=0.000004) and length of ED stay (209.0 [143.5−260.0] min vs. 271.0 [206.5−336.0], p=0.0002. Moreover, in patients indicated for further follow-up, utilisation of POCE resulted in better concordance of working and final diagnosis: 91,6 % vs. 50 %; RR = 1.83 (1.104-2.565); p = 0.0063. Benefits of POCE were most pronounced in patients requiring hospitalization. Conclusion The study showed that echocardiography performed by sufficiently educated physician in patients with acute chest pain results in significant shortening of ED stay along with improved diagnostic accuracy.

Detecting Leptospira spp. infection in cows by PCR: What is the best sample to test?

Bovine leptospirosis is a major reproductive disease. As cows can be leptospiral carriers both on the renal and genital tract, diagnosis can be challenging, with an underlying risk of misdiagnosis. Traditionally, the infection has been diagnosed by culturing or PCR from urine samples. Nevertheless, recent studies have suggested testing genital samples rather than urine, particularly for the diagnosis of genital colonization and reproductive disorders. The present study aimed to compare urine versus genital samples to detect leptospiral carriers in naturally infected cows with poor reproductive performance under field conditions. Five herds presenting >20 % of seroreactive animals against the Sejroe serogroup were selected. Of these, 106 cows with poor reproductive performance were studied, and urine, uterine fragment (UF), and cervicovaginal mucus (CVM) were obtained and tested by lipL32-PCR. A total of 73 (68.9 %) cows were infected; 64 of which (87.7 %) were diagnosed via positive genital samples (UF and/or CVM), while only 14 (19.2 %) by urine (p ≤ 0.001). Therefore, if the study had been limited to urine samples, as largely recommended, less than 20 % of the infected cows would have been detected, representing a huge misdiagnosis of the disease that could undermine the efficacy of control programs. In this context, the present study reinforces prior findings that testing genital samples, particularly CVM, is crucial to effectively diagnosing infected subfertile cows.

Differentiation of MS lesions through analysis of microvascular distribution

Abstract Conventional MRI is crucial for diagnosing multiple sclerosis (MS) but lacks precision, leading to the clinico-radiological paradox and misdiagnosis risk, especially when confronted with unspecific lesions not related to MS. Advancements in perfusion-weighted imaging (PWI) with an algorithm designed for diseases with anticipated contrast agent extravasation offer insight into microvascular impairment and flow heterogeneity. Our study aimed to assess these factors in MS patients and their association with clinically relevant white matter injury and disease course. We evaluated 60 adults with white matter lesions (WML), including 50 diagnosed with MS or MS syndromes and 10 non-diseased symptomatic controls (SC) with unspecific WML. MRI included conventional three-dimensional (3D) T2-weighted fluid-attenuated inversion recovery (T2-FLAIR), 3D magnetization-prepared 2 rapid acquisition gradient-echo (MP2RAGE), post-contrast 3D T1-weighted (T1) images and Dynamic Susceptibility Contrast (DSC) PWI at 3T. WML masks of “unspecific T2-FLAIR lesions”, “MS T2-FLAIR lesions”, and “MS T1-lesions” were manually outlined and validated by a neuroradiologist. DSC-derived parameters were analyzed in WML masks and healthy-appearing tissue. MS T2-FLAIR lesions showed increased flow heterogeneity and vasodilation compared to unspecific T2-FLAIR lesions in SC, as well as compared to unspecific T2-FLAIR lesions within the MS group. MS T1-lesions exhibited more homogenized flow. Our findings suggest that DSC-PWI combined with lesion delineation, can provide clinically relevant differentiation of MS lesions from unspecific WML, highlighting potential microvascular pathology previously overlooked in MS.

Diagnostic and treatment pitfalls in glossopharyngeal neuralgia: evidence from a case series.

Glossopharyngeal neuralgia (GN) is a rare pain syndrome often underdiagnosed. This study aimed to assess the challenges in diagnosing GN and identify patients at risk of misdiagnosis. Between 2010 and 2019, nine patients underwent microvascular decompression (MVD) of the glossopharyngeal nerve at two tertiary care hospitals. A retrospective analysis examined symptom characteristics, time to correct diagnosis, operative technique, and clinical outcomes. Barrow Neurological Institute (BNI) pain scores were assessed before surgery and on follow-up. Six women and three men, aged 55 ± 14.3years, with unilateral GN were included. Pain was predominantly in the ear (otalgic type) in four patients (44.4%), the pharynx or base of the tongue (pharyngeal type) in four (44.4%), and mixed in one (11.1%). Five patients reported pain radiating to the mandible, all initially misdiagnosed with trigeminal neuralgia (TN) and treated for 2.4(± 3.1) years before presenting to our institution. One case resulted in MVD of the trigeminal nerve and subsequent thermocoagulation of the Gasserian ganglion due to persistent pain. The correct diagnosis of GN was established later in patients with otalgic or mixed pain (3.8 ± 3.4years) compared to those with pharyngeal pain (0.5 ± 1.0years), showing a trend (U = 17.0, p = 0.07). There was a significant association between pain radiation to the mandible and misdiagnosis (x2 = 9.00, p = 0.003). Endoscopically assisted MVD via the median suboccipital subtonsillary approach was performed, resolving neurovascular conflicts with the PICA (9/9) and vertebral artery (3/9). Follow-up after 15.7(± 18.2) months showed significant pain reduction according to the BNI (preoperative BNI = 5.0 ± 0.0, postoperative BNI = 1.7 ± 1.0,t (8) = 10,CI [1.6-5.1], p < 0.001). No permanent surgery-related deficits occurred. Patients with GN, especially those with predominant otalgic pain and pain radiating to the mandible, are at higher risk of misdiagnosis due to similarities with TN. Despite the rarity of GN, increased awareness of its various pain manifestations may lead to earlier correct diagnoses, which is crucial for surgical treatment.

Deep Learning to Discriminate Arteritic From Nonarteritic Ischemic Optic Neuropathy on Color Images

Prompt and accurate diagnosis of arteritic anterior ischemic optic neuropathy (AAION) from giant cell arteritis and other systemic vasculitis can contribute to preventing irreversible vision loss from these conditions. Its clinical distinction from nonarteritic anterior ischemic optic neuropathy (NAION) can be challenging, especially when systemic symptoms are lacking or laboratory markers of the disease are not reliable. To develop, train, and test a deep learning system (DLS) to discriminate AAION from NAION on color fundus images during the acute phase. This was an international study including color fundus images of 961 eyes of 802 patients with confirmed AAION and NAION. Training was performed using images from 21 expert neuro-ophthalmology centers in 16 countries, while external testing was performed in a cohort from 5 expert neuro-ophthalmology centers in the US and Europe. Data for training and external testing were collected from August 2018 to January 2023. A mix of deidentified images of 2 fields of view (optic disc centered and macula centered) were used. For training and internal validation, images were from 16 fundus camera models with fields of 30° to 55°. For external testing, images were from 5 fundus cameras with fields of 30° to 50°. Data were analyzed from January 2023 to January 2024. The performance of the DLS was measured using area under the receiver operating characteristic curve (AUC), sensitivity, specificity, and accuracy. In the training and validation sets, 374 (54.9%) of patients were female, 301 (44.2%) were male, and 6 (0.9%) were of unknown sex; the median (range) age was 66 (23-96) years. When tested on the external dataset including 121 patients (35 [28.9%] female, 44 [36.4%] male, and 42 [34.7%] of unknown sex; median [range] age, 69 [37-89] years), the DLS achieved an AUC of 0.97 (95% CI, 0.95-0.99), a sensitivity of 91.1% (95% CI, 85.2-96.9), a specificity of 93.4% (95% CI, 91.1-98.2), and an accuracy of 92.6% (95% CI, 90.5-96.6). The accuracy of the 2 experts for classification of the same dataset was 74.3% (95% CI, 66.7-81.9) and 81.6% (95% CI, 74.8-88.4), respectively. A DLS showing disease-specific averaged class-activation maps had greater than 90% accuracy at discriminating between acute AAION from NAION on color fundus images, at the eye level, without any clinical or biomarker information. A DLS that identifies AAION could improve clinical decision-making, potentially reducing the risk of misdiagnosis and improving patient outcomes.

Coexisting Medullary and Papillary Thyroid Carcinomas: A Case of Dual Neoplasia With a High Risk of Misdiagnosis

Coexisting Medullary and Papillary Thyroid Carcinomas: A Case of Dual Neoplasia With a High Risk of Misdiagnosis

Pigmented Purpuric Dermatoses in Children: A case Report &amp; Importance of Clinicopathological Correlation

Abstract Introduction/Objective Pigmented purpuric dermatoses are characterized by chronic but benign cutaneous eruptions featuring petechiae, purpura, or yellow to brown patches. It is more common in adult males and adolescents is generally localized on the lower limbs and has been reported in children multiple times. Our objective is to bring to consideration that it is not very uncommon in children and clinicopathological correlation is very important for a confirmed diagnosis. Methods/Case Report In our study, we report a case of 9 years 9-year-old girl with asymptomatic brown patches on lower legs bilaterally but asymmetrically since &amp;gt; 6-8 months. Histopathology was suggestive of typical features suggestive of PPD, including dilated blood vessels, endothelial cell swelling, hemosiderin deposition, red cell extravasation, and perivascular lymphocytic-macrophage infiltration. Pediatric instances of PPD are infrequently documented, due to their exclusion from the other differential diagnosis of purpura, post-inflammatory hyperpigmentation, and atopic dermatitis in this age group. Because these conditions lack systemic findings and share similar clinical presentations with other skin disorders, they may be overlooked or mistaken for more common conditions in pediatric patients. Histopathology plays a vital role in case of patches of persistent pigmentation on the skin especially lower limbs to rule out PPD. In many cases of pediatric PPD, it is usually considered self-resolving, but there is complete resolution has also been reported with Vitamin C, rutoside, narrow-band ultraviolet B treatment, and topical corticosteroids. Results (if a Case Study enter NA) In many cases of pediatric Pigmented purpuric dermatosis is usually considered as self-resolving, but there is complete resolution has also been reported with Vitamin C, rutoside [3] narrow-band ultraviolet B treatment and topical corticosteroids. Conclusion Our study aims to emphasize improving diagnostic accuracy, especially in pediatric cases, enhancing outcomes, and understanding the necessity of histopathological diagnosis in pediatric PPD cases. We also seek to abate the risk of misdiagnosis or underdiagnosis, and the need for increased awareness of this diagnosis in pediatric cases so that we can counsel and manage patients and their families accordingly. Through a comprehensive review of existing literature, we advocate for the inclusion of Schamberg’s type purpura as a differential diagnosis for purpuric eruptions or cutaneous discoloration in childhood.

Executive function tests: Normative data for Spanish-speaking adults in the United States.

Normative data for Spanish-speaking populations, particularly Hispanics in the U.S., is notably scarce. This study aims to establish normative data for executive function tests (Modified Wisconsin Card Sorting Test and Stroop Color and Word Test) among Spanish-speaking Hispanics in the U.S. We assessed 245 individuals aged 18-80 from eight U.S. states (California, Connecticut, Florida, Indiana, New Jersey, Oregon, Virginia, and Wisconsin) and employed Bayesian regression to estimate norms, considering various sociodemographic factors influencing performance. The posterior distribution suggests a high probability that age impacts SCWT performance, with older adults likely to show greater declines, particularly among those with high proficiency in Spanish. The posterior distribution suggests a stronger effect of age on M-WCST performance among individuals with longer U.S. residency. Educational attainment demonstrates a robust positive impact on M-WCST outcomes, with lower levels of education associated with a higher probability of increased errors. An interaction between education and Spanish proficiency was observed, influencing SCWT scores differently across proficiency levels. Sex and acculturation levels interact to affect SCWT performance, with distinct patterns observed between men and women. This suggests that the impact of acculturation on cognitive test performance may vary by gender. Establishing culturally sensitive normative data can enhance accurate identification of executive dysfunction and reduce misdiagnosis risks. This study underscores the importance of considering sociocultural factors including acculturation and language proficiency in neuropsychological assessments to better serve diverse populations.

Pediatric mediastinal lymphatic malformation: misdiagnosis analysis and literature review

ObjectivesMediastinal cystic lymphatic malformation (MCLM) in children is prone to misdiagnosis as cystic teratoma. We compared the clinical and radiologic features between the two diseases and performed a cross-comparison with previous research on adult cases. This study aims to identify characteristic pediatric manifestations to improve diagnostic accuracy.MethodsA retrospective study of clinical and radiologic data was conducted on 12 MCLM and 20 cases of cystic teratomas confirmed by pathology or intervention biopsy. Clinical characters and radiology features (mass location and morphology, density, component, secondary complication) were recorded and compared. We reviewed clinical studies on MCLM published in the past decades, analyzing radiological differences and comparing pediatric MCLM cases at our hospital with those in the literature.ResultsGroup comparison in pediatrics between MCLM and cystic teratomas: There were significant age differences (p = 0.036), shape (p = 0.003), CT difference value (p < 0.001), CT difference ratio (p < 0.001), calcification (p < 0.001), fat (p < 0.001), and typing (p < 0.001) between the two diseases. An analysis of literature data on MCLM cases involved 16 studies.ConclusionThe absence of internal fat or irregular morphology, along with a minimal CT difference value, may suggest the diagnosis of MCLM. In pediatric cases, anterior mediastinal diseases tend to extend toward the neck, and the presence of the thymus can complicate the component analysis, thereby increasing the risk of misdiagnosis. Clinical diagnosis and differential diagnosis of pediatric MCLM rely heavily on imaging evaluation.

Colonic lipoma, a rare cause of intestinal intussusception: A narrative review and how to diagnose it.

Colonic lipomas (CLs) are benign tumors of the adipose tissue of the gastrointestinal tract that are often asymptomatic. A search of medical literature in English using PubMed and Google Scholar was conducted for articles related to CL. Occasionally, patients present with intestinal bleeding or obstructive symptoms. Although intussusception is commonly observed in children, it is rare in adults. Moreover, CL as the most common entity, is very rare, with an incidence rate of 0.035% to 4.4%. Although fatty composition can assist in diagnosis through computed tomography and magnetic resonance imaging, the latter cannot exclude local infiltration. CLs are distributed evenly between both sexes and can be located anywhere in the gastrointestinal tract; however, they are more frequently located in the colon, particularly in the right colon and cecum (39.6%), followed by the transverse colon (25%), descending colon (20.8%), and the sigmoid colon (14.6%). Symptoms included abdominal pain (79.2%), alterations in bowel habits (45.8%), rectal bleeding (22.9%), colocolic intussusception (50%), weight loss (6.2%), vomiting (14.6%), and nausea (12.5%). Surgical and endoscopic techniques are widely used to manage CLs. The challenge for physicians is differentiating this lesion from malignant colonic lesions, at the outset. The risk of misdiagnosis is possible, and the recommendation in cases of doubt is still segmental surgical resection, as it ensures correct collection of lymph nodes for appropriate staging of presumed colonic carcinoma.

Pseudoinvasion and squamous metaplasia/morules in colorectal adenomatous polyp: a case report and literature review

BackgroundSubmucosal pseudoinvasion and squamous metaplasia (SM) are incidental and special morphological findings in colorectal adenomas, and both can mimic invasive carcinoma. The coexistence of these two findings further increases the risk of misdiagnosis, posing a great diagnostic challenge to pathologists. From 1979 to 2022, only 8 cases have been reported, which was extremely rare. In this report, we presented a case of sigmoid colon adenoma accompanied by pseudoinvasion and SM. Additionally, relevant literature was analyzed to summarize the clinical and pathological characteristics.Case presentationA 51-year-old Chinese male patient presented with fresh blood after defecation. Electronic colonoscopy revealed multiple polyps, which were removed using a snare and subjected to high-frequency electrocoagulation resection. The largest polyp, located in the sigmoid colon, was a thick pedunculated and lobulated polyp with a maximum diameter of 2.8 cm. The surface of the polyp showed slight ruggedness and redness, and it was sent for pathological examination. Grossly, the polyp had a lobulated and slightly rough surface. Microscopically, it showed a tubulovillous adenoma with focal high-grade dysplasia and mucosal muscle hyperplasia. Glandular elements were observed in the submucosal layer, forming a well-defined lobular structure. Some of the glands displayed cystic change, and focal SM could be seen within the adenoma. SM could manifest as discrete solid cell nests of varying sizes or cribriform-morular-like structures. Immunohistochemical staining showed that SM cells were diffusely positive for cytokeratin 5/6 (CK5/6); p40, p63, and cytokeratin 20 (CK20) were negative; while caudal type homeobox 2 (CDX2) was weakly positive. β-catenin showed abnormal nuclear expression, and an extremely low Ki67 proliferation index was observed.ConclusionsCoexistence of SM and pseudoinvasion in colorectal adenomas is highly rare. It is more commonly observed in males and tends to occur in the sigmoid colon. It primarily manifests in tubulovillous adenoma and tubular adenoma, with a majority of cases exhibiting a pedicle. Histologically, it is similar to invasive lesions. The cystic dilation of the submucosal glands, hemosiderin deposition, and the presence of a lamina propria around the submucosal glands without adjacent desmoplastic reaction, suggest pseudoinvasion rather than cancer. The bland cytological morphology and Immunohistochemical markers play a crucial role in distinguishing SM from true invasive lesions.

Colorectal Cancer Complicated with Chronic Schistosoma Japonicum Infected: A Case Report.

Colonic schistosomiasis is a significant health issue in endemic areas, presenting diagnostic challenges due to its nonspecific clinical symptoms and radiographic features. This case report highlights a patient with concomitant colorectal cancer and chronic Schistosoma japonicum infection, emphasizing the need for a comprehensive diagnostic approach. A 67-year-old male from an endemic region presented with a six-month history of intermittent hematochezia. Initial colonoscopy revealed multiple mucosal elevations in the sigmoid colon and rectum. Subsequent investigations, including CT scans and endoscopic ultrasonography, indicated high echogenic changes and multiple lesions. The patient underwent endoscopic submucosal dissection (ESD), revealing adenocarcinoma of the rectal mucosa and tubular adenoma in the sigmoid colon, both with extensive deposition of Schistosoma japonicum eggs. Postoperative pathology confirmed the diagnosis of moderately differentiated adenocarcinoma with chronic schistosomiasis. This case underscores the diagnostic complexity of colonic schistosomiasis, particularly when coexisting with malignancy. The integration of colonoscopy, histopathology, and auxiliary tests is crucial for accurate diagnosis. Clinicians should maintain a high index of suspicion for schistosomiasis in patients from endemic areas presenting with gastrointestinal symptoms. Regular screening and detailed medical histories are essential for early detection and treatment, improving patient outcomes and reducing the risk of misdiagnosis.

Construction of a sequence activated fluorescence probe for simultaneous detection of γ-glutamyl transpeptidase and peroxynitrite in acute kidney injury

Acute kidney injury (AKI) can result in a sudden decline in kidney function and, if not promptly diagnosed and treated, can lead to a high mortality rate. Therefore, there is a critical need for the development of a non-invasive and dependable early diagnostic method for AKI to prevent its progression and deterioration. To address the risk of misdiagnosis or overlooked diagnosis due to reliance on a single biomarker, we developed a novel molecular fluorescent probe (HX-GP) to simultaneously detect and image two biomarkers, γ-Glutamyl transpeptidase (γ-GGT) and Peroxynitrite (ONOO−), in the AKI process. HX-GP can specifically detect γ-GGT in the red fluorescence channel (λem = 613 nm) and ONOO− in the green fluorescence channel (λem = 518 nm). HX-GP demonstrated high sensitivity, selectivity, and rapid response, showing excellent biocompatibility and detection performance. In addition, HX-GP was successful in imaging experiments in a cell model of cisplatin-induced AKI, a result that highlights its potential application value in early diagnosis of AKI.

Clinical, pathological and genetic characteristics of 17 unrelated children with Alagille Syndrome

BackgroundAlagille syndrome (ALGS) is a multisystem genetic disorder frequently characterized by hepatic manifestations. This study analyzed the clinical, pathological, and molecular genetic features of ALGS to improve the efficiency of clinical diagnosis.MethodsWe retrospectively analyzed the clinical manifestations, pathological examination findings, and genetic testing results of 17 children diagnosed with ALGS based on the revised criteria and hospitalized at our center from January 2012 to January 2022.ResultsThe clinical manifestations are as follows: Cholestasis (16/17, 94%), characteristic facies (15/17, 88%), heart disease (12/16, 75%), butterfly vertebrae (12/17, 71%) and posterior embryotoxon (7/12, 58%). Among the 15 patients who underwent liver pathology examination, 13 (87%) were found to have varying degrees of bile duct paucity. Genetic testing was performed on 15 children, and pathogenic variants of the jagged canonical Notch ligand 1 (JAG1) gene were identified in 13 individuals, including 4 novel variants. No pathogenic variant in the notch homolog 2 (NOTCH2) gene were identified, and 2 children exhibited none of the aforementioned gene pathogenic variants. The median follow-up duration was 7 years. Of the remaining 15 patients (excluding 2 lost to follow-up), 11 remained stable, 4 deteriorated, and no patient died during the follow-up period.ConclusionsAmong children diagnosed with ALGS, cholestasis stands as the most common feature. To minimize the risk of misdiagnosis, genetic testing should be performed on children exhibiting cholestasis, followed by the application of the revised diagnostic criteria for ALGS. While pharmacological therapy has shown effectiveness for ALGS patients, liver transplantation may be considered in instances of severe pruritus.

Artificial intelligence iterative reconstruction in abdominal CT of patients with irregular arm positioning: a case-by-case evaluation.

Streak artifacts induced by irregular arm positioning have been an issue in diagnosing the abdomen. To illustrate the risk of misdiagnosis in abdominal computed tomography (CT) of patients with irregular arm positioning through a case-by-case evaluation and to test if it can be solved by the artificial intelligence iterative reconstruction (AIIR) algorithm. By reviewing 5220 cases of chest and thoracoabdominal CT, 64 patients with irregular arm positioning were enrolled, whose image data were reconstructed using AIIR in addition to routine hybrid iterative reconstruction (HIR). Lesion detection for livers, spleens, kidneys, gallbladders, and pancreas on AIIR images, performed by two radiologists, was compared with those on HIR images. Discrepancies arising from AIIR images included both cases with additional abnormalities and those with corrections made on previous detections. For cases with discrepancies, artifact scores for organs where discrepancies were found, and contrast-to-noise ratios (CNRs) of cysts with discrepancies were compared between two image sets. Additional abnormalities were detected for 15 cases: additional liver cirrhosis (n=2); additional gallbladder stone (n=1); additional cholecystitis (n=1), additional spleen nodule (n=1); additional kidney cysts (n=8); additional liver cysts (3); and additional spleen cyst (n=1). A spleen contusion was corrected for one case. All involved artifact scores were improved on AIIR images. CNRs of involved liver, kidney, and spleen cysts were improved by up to 539.7%, 538.5%, and 245.5%, respectively. Irregular arm positioning may induce a variety of misdiagnoses in abdominal CT, which is almost totally avoidable by the AIIR algorithm.

Posterior fossa Hodgkin's lymphoma radiographically mimicking an arteriovenous malformation: illustrative case.

Intracranial Hodgkin's lymphoma (HL) is an exceedingly rare condition that is at an increased risk of misdiagnosis and mismanagement, especially when initial radiographic evidence points to an alternative pathology. The authors describe the case of a 75-year-old female who presented with a posterior fossa lesion initially concerning for a vascular malformation on computed tomography imaging due to perilesional hypervascularity. Subsequent angiography revealed a developmental venous anomaly (DVA) but no arteriovenous shunting. The patient's clinical history combined with magnetic resonance imaging findings prompted a tissue biopsy, which demonstrated a rare case of central nervous system (CNS) HL. The neoangiogenesis of this CNS HL with an adjacent DVA contributed to the original radiographic misdiagnosis of an arteriovenous malformation. HL's angiogenic potential, coupled with the proangiogenic environment induced around DVAs, may have contributed to this rare CNS HL metastasis to the cerebellum. The potential misdiagnosis of posterior fossa CNS HL has also been seen in several prior cases reviewed herein. Hypervascular tumors, especially when associated with an adjacent DVA, should also be considered when first evaluating suspected intracranial vascular lesions. Although rare, CNS HL should be included in the differential diagnosis for patients with a prior history of HL. https://thejns.org/doi/10.3171/CASE24238.

Developing an explainable diagnosis system utilizing deep learning model: a case study of spontaneous pneumothorax

Objective. The trend in the medical field is towards intelligent detection-based medical diagnostic systems. However, these methods are often seen as ‘black boxes’ due to their lack of interpretability. This situation presents challenges in identifying reasons for misdiagnoses and improving accuracy, which leads to potential risks of misdiagnosis and delayed treatment. Therefore, how to enhance the interpretability of diagnostic models is crucial for improving patient outcomes and reducing treatment delays. So far, only limited researches exist on deep learning-based prediction of spontaneous pneumothorax, a pulmonary disease that affects lung ventilation and venous return. Approach. This study develops an integrated medical image analysis system using explainable deep learning model for image recognition and visualization to achieve an interpretable automatic diagnosis process. Main results. The system achieves an impressive 95.56% accuracy in pneumothorax classification, which emphasizes the significance of the blood vessel penetration defect in clinical judgment. Significance. This would lead to improve model trustworthiness, reduce uncertainty, and accurate diagnosis of various lung diseases, which results in better medical outcomes for patients and better utilization of medical resources. Future research can focus on implementing new deep learning models to detect and diagnose other lung diseases that can enhance the generalizability of this system.

Dual Enzyme-Locked Activation Reporter for Accurate Liver Cancer Surveillance.

Activatable probes with a higher signal-to-background ratio and accuracy are essential for monitoring liver cancer as well as intraoperative fluorescence navigation. However, the presence of only one biomarker is usually not sufficient to meet the high requirement of a signal-to-background ratio in cancer surveillance, leading to the risk of misdiagnosis. In this work, a dual-locked activation response probe, Si-NTR-LAP, for nitroreductase and leucine aminopeptidase was reported. This dual-locked probe provides better tumor recognition and a higher signal-to-noise ratio than that of single-locked probes (Si-LAP and Si-NTR). In both the subcutaneous tumor model and the more complex orthotopic hepatocellular carcinoma model, the probe was able to identify tumor tissue with high specificity and accurately differentiate the boundaries between tumor tissue and normal tissue. Therefore, the dual-locked probe may provide a new and practical strategy for applying to real patient tumor tissue samples.

Antibodies against glutamic acid decarboxylase in intravenous immunoglobulin preparations can affect the diagnosis of type 1 diabetes mellitus.

Intravenous immunoglobulins (IVIgs) contain various autoantibodies, including those against glutamic acid decarboxylase (GADAb), a valuable biomarker of type 1 diabetes mellitus. Passive transfer of GADAb from IVIgs to patients poses a risk of misdiagnosis, and information on the specific titres of GADAb and their impact on diagnostic accuracy remains limited. This study aimed to provide further insights into the origin of GADAb detected in patient serum following IVIg infusion. GADAb titres in IVIg products from Japan and the United States were measured using enzyme-linked immunosorbent assay-based assays. For reliable quantification, GADAb titres in pooled plasma were quantified and compared with those in the IVIg products. The determined titres were used to estimate the likelihood of passively detecting acquired GADAb in individuals receiving IVIgs. GADAbs were prevalent in IVIg products; however, the titres varied significantly among different lots and products. Importantly, IVIg-derived GADAb was estimated to remain detectable in patient serum for up to 100 days following a dosage of 2000 mg/kg. Clinicians should consider that IVIg preparations may contain GADAb, which can lead to false-positive results in serological assays. Careful interpretation of the assay results is key to the definitive diagnosis of type 1 diabetes mellitus.

Clinicopathological differences between T-lymphoblastic leukemia/lymphoma, early T-precursor lymphoblastic leukemia/lymphoma, and mixed-phenotype acute leukemia with T lineage: An analysis of 41 adult cases

The histopathological diagnosis of T-lymphoblastic leukemia/lymphoma, NOS (T-ALL), is based on morphology and positivity for CD3 and TdT. Early T-precursor lymphoblastic leukemia/lymphoma (ETP-ALL) and mixed-phenotype acute leukemia (MPAL), T/M, and/or B rarely occur and are usually diagnosed using flow cytometry. Using only formalin-fixed paraffin-embedded tissue raises the risk of misdiagnosis due to underestimation. Immunostaining markers for T cell (CD1a, CD4, CD5, CD8), B cell (CD19, CD10, CD22, CD79a), and stem/myeloid-related cell (CD33, CD34, CD117, MPO, lysozyme) diagnosed 25 T-ALL cases (61%), 7 MPAL (17%), 6 ETP-ALL (15%), and 3 near ETP-ALL (7%), with subsequent analysis of their clinicopathological characteristics. Patients with MPAL had significantly poorer 2-year progression-free survival (14.3% vs. 60.4%, P = 0.012) and 5-year overall survival (28.6% vs. 65.9%, P = 0.011) than did those with T-ALL, whereas ETP-ALL and near ETP-ALL did not. Of the seven patients with MPAL, three were classified as T/B, two as T/M, and two as T/M/B. Because most MPALs (6/7) share the ETP-ALL phenotype, immunohistochemistry for CD19 and MPO should be performed to avoid misdiagnosing MPAL as ETP-ALL. All three patients with TdT-negative MPAL died of the disease. Four patients with MPO-positive MPAL relapsed during the early phase (1–9 months). Five patients received the ALL regimen, but two patients received acute myeloid leukemia and lymphoma regimens, respectively. In this study, MPAL exhibited a poorer prognosis compared to T-ALL, unlike ETP-ALL. Thus, immunohistochemical classification with multiple antibody panels is useful for accurate diagnosis and treatment.