Odontogenic Cutaneous Fistula: A Zombie Diagnosis.

BACKGROUND: Odontogenic cutaneous fistula (OCF) is a pathologic communication between the cutaneous surface of the face and oral cavity. Majority of oral cutaneous fistulas are reported to arise from chronic dental infection. Delay in treatment may result in chronic tissue injury as well as cosmetic deformities. Lesions are often misdiagnosed, leading to delayed management. Misdiagnosis may be the result of the variability of clinical morphological presentation and location of lesions compounded by the lack of knowledge that these lesions can have dental etiology. It is estimated that half of patients with OCF undergo multiple dermatologic surgical operations, antibiotic regimens, and other excisions and biopsies before a correct diagnosis is made. Herein, we present a systematic review to detail cases of odontogenic cutaneous lesions that had been previously misdiagnosed or managed inappropriately. In addition, we include a case report from our own institution. The aims are to demonstrate various presentations of OCF, increase awareness of plastic surgeons and oral maxillofacial surgeons to this pathological condition, and reinforce the importance of prompt diagnosis and treatment. METHODS: The study was conducted following the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) statement. A literature search was conducted in PubMed, Web of Science, and Cochrane databases from January 1, 2013 to July 24, 2023. The following search terms were utilized: "odontogenic cutaneous fistula" OR "odontogenic cutaneous sinus." RESULTS: Twenty-three articles published between 2013 and 2023 were included in this review. In addition, we report a case from our own institution. A total of 28 cases were included in the review. CONCLUSIONS: Diagnosis of OCF is challenging for numerous reasons. Misdiagnosis can lead to multiple trials of antibiotics and surgical procedures as well as reoccurrence of the lesion. Cases summarized highlight the importance of communication between oral maxillofacial surgery, plastic surgery, other medical subspecialists, and dentists in the evaluation of patients with head and neck lesions. Physicians should consider dental etiology in the differential diagnosis of orofacial skin lesions, even if teeth appear normal on oral examination.

Spectrum of Cognitive Biases in Diagnostic Radiology.

Cognitive biases are systematic thought processes involving the use of a filter of personal experiences and preferences arising from the tendency of the human brain to simplify information processing, especially when taking in vast amounts of data such as from imaging studies. These biases encompass a wide spectrum of thought processes and frequently overlap in their concepts, with multiple biases usually in operation when interpretive and perceptual errors occur in radiology. The authors review the gamut of cognitive biases that occur in radiology. These biases are organized according to their expected stage of occurrence while the radiologist reads and interprets an imaging study. In addition, the authors propose several additional cognitive biases that have not yet, to their knowledge, been defined in the radiologic literature but are applicable to diagnostic radiology. Case examples are used to illustrate potential biases and their impact, with emergency radiology serving as the clinical paradigm, given the associated high imaging volumes, wide diversity of imaging examinations, and rapid pace, which can further increase a radiologist's reliance on biases and heuristics. Potential strategies to recognize and overcome one's personal biases at each stage of image interpretation are also discussed. Awareness of such biases and their unintended effects on imaging interpretations and patient outcomes may help make radiologists cognizant of their own biases that can result in diagnostic errors. Identification of cognitive bias in departmental and systematic quality improvement practices may represent another tool to prevent diagnostic errors in radiology. ©RSNA, 2024 See the invited commentary by Larson in this issue.

Laboratory specimen rejection rate and associated factors among referred specimens at Debre Markos Referral Hospital, Ethiopia: prospective cross-sectional study.

Introduction: laboratory errors mostly emerge from the pre-analytical phase, mainly those related to collection, handling, transportation, and storage of diagnostic specimens. Specimen rejection due to improper sample collection, may lead to poor patient outcomes, such as incorrect diagnosis, inappropriate treatment, and death. This study aimed to assess the specimen rejection rate and associated factors among referred specimens at Debre Markos Referral Hospital. Methods: a prospective cross-sectional study design was applied from January 2020 to April 2020 to investigate specimen rejection rate and associated factors among referred specimens. The study population was all laboratory specimens referred for viral load, CD4 count, gene expert, and early infant diagnosis to the Debre Markos Referral Hospital laboratory. The statistical analysis was done with Statistical Package for Social Sciences version 20.0 software. Results: of the total of 2750 specimens submitted to the laboratory from January 2020 to April 2020, 37 (1.34%) specimens were rejected due to different reasons like insufficient volume, hemolysis, and an inappropriate specimen container. Specimen collector training status and experience had a significant association with the specimen rejection rate. Conclusion: the results of our study show that the specimen rejection rate among referred specimens was high, indicating that more interventions are required to decrease the specimen rejection rate.

Performance evaluation of ChatGPT in detecting diagnostic errors and their contributing factors: an analysis of 545 case reports of diagnostic errors.

BACKGROUND: Manual chart review using validated assessment tools is a standardised methodology for detecting diagnostic errors. However, this requires considerable human resources and time. ChatGPT, a recently developed artificial intelligence chatbot based on a large language model, can effectively classify text based on suitable prompts. Therefore, ChatGPT can assist manual chart reviews in detecting diagnostic errors. OBJECTIVE: This study aimed to clarify whether ChatGPT could correctly detect diagnostic errors and possible factors contributing to them based on case presentations. METHODS: We analysed 545 published case reports that included diagnostic errors. We imputed the texts of case presentations and the final diagnoses with some original prompts into ChatGPT (GPT-4) to generate responses, including the judgement of diagnostic errors and contributing factors of diagnostic errors. Factors contributing to diagnostic errors were coded according to the following three taxonomies: Diagnosis Error Evaluation and Research (DEER), Reliable Diagnosis Challenges (RDC) and Generic Diagnostic Pitfalls (GDP). The responses on the contributing factors from ChatGPT were compared with those from physicians. RESULTS: ChatGPT correctly detected diagnostic errors in 519/545 cases (95%) and coded statistically larger numbers of factors contributing to diagnostic errors per case than physicians: DEER (median 5 vs 1, p<0.001), RDC (median 4 vs 2, p<0.001) and GDP (median 4 vs 1, p<0.001). The most important contributing factors of diagnostic errors coded by ChatGPT were 'failure/delay in considering the diagnosis' (315, 57.8%) in DEER, 'atypical presentation' (365, 67.0%) in RDC, and 'atypical presentation' (264, 48.4%) in GDP. CONCLUSION: ChatGPT accurately detects diagnostic errors from case presentations. ChatGPT may be more sensitive than manual reviewing in detecting factors contributing to diagnostic errors, especially for 'atypical presentation'.

Variantes normales de aspecto epileptiforme en el electroencefalograma. Revisión de la bibliografía e implicaciones clínicas / Normal variants with an epileptiform appearance in electroencephalograms. A literature review and clinical implications

Las variantes normales de aspecto epileptiforme, o variantes epileptiformes benignas, son un reto diagnóstico en la interpretación de los electroencefalogramas que requiere su conocimiento y una amplia experiencia por parte de los responsables del informe electroencefalográfico. Incluyen un grupo heterogéneo de hallazgos, algunos muy infrecuentes, que inicialmente se relacionaron con epilepsia y patologías neurológicas diversas. En la actualidad, la mayoría se consideran variantes sin significado patológico, y su sobreinterpretación habitualmente acarrea diagnósticos erróneos y tratamientos innecesarios. Los datos de prevalencia de estas variantes son muy diversos y proceden habitualmente de poblaciones seleccionadas, por lo que son difícilmente extrapolables a población sana. No obstante, estudios con electrodos invasivos y series más recientes vuelven a asociar algunas de estas variantes con epilepsia. Nuestro objetivo es revisar las características y la prevalencia de las principales variantes epileptiformes benignas y actualizar su significado clínico. (AU)

The diagnosis and misdiagnosis of Sjögren disease.

Although one of the most common systemic autoimmune disorders, Sjögren disease (SjD) may be overlooked in patients presenting with non-specific symptoms or no complaints of sicca symptoms. SjD is not a condition to be missed as patients could present with serious extra-glandular manifestations, including lymphomas. In this article, we discuss the diagnostic pitfalls of this disorder and encourage physicians to consider carefully the 'non-textbook' presentations.

Verrucous carcinoma presenting as recalcitrant verruca plantaris.

Verrucous carcinoma (VC) is a rare, low-grade variant of well-differentiated squamous cell carcinoma. Plantar verrucous carcinoma presents as a slow-growing, exophytic, verrucous plaque on weight bearing areas of the foot. Verrucous carcinomas have low metastatic potential, but are high risk for local invasion. We describe a patient with a 20-year history of a slowly growing, ulcerated, verrucous plaque on the sole of the left foot that was erroneously treated for years as verruca plantaris and was eventually diagnosed as invasive verrucous carcinoma. Verrucous carcinomas are a diagnostic challenge due to clinical and histopathologic mimicry of benign lesions. Mohs micrographic surgery should be employed to allow the ability to intraoperatively assess tumor margins while excising the minimal amount of necessary tissue. It is important for clinicians to recognize the characteristics and accurately diagnose verrucous carcinomas. Delays in treatment may require more extensive dissection or amputation.

Mistakes in utilising histopathology for the management of liver disease.

INTRODUCTION: Liver biopsy has become selective due to its invasiveness, potential adverse effects, patient acceptance and cost. Furthermore, the emergence of noninvasive tests (NITs) has challenged the necessity of liver biopsies in specific clinical situations. However, liver biopsy continues to play a crucial role in disease diagnosis, prognosis, and evaluating treatment compliance and response in selected patients. AREAS COVERED: In this narrative review, we discuss the errors and the shortcomings that can occur at various stages, from the initial patient selection for a liver biopsy to the final reporting phase, and strategies to address them. Clinicians and pathologists must take all necessary precautions to mitigate potential shortcomings that could compromise the value of liver biopsies. EXPERT OPINION: The increasing sophistication of NITs offers a safer, more convenient, and potentially more cost-effective approach to diagnosing chronic liver disease, especially for assessing the degree of liver fibrosis. As NITs continue to evolve, liver biopsy will likely transition to a more targeted role, ensuring optimal patient care in the ever-changing field of hepatology. However, liver biopsy will continue to have a pivotal role in assessing acute liver disease where the diagnostic yield of the liver biopsy still outweighs that of NITs.

Pulmonary artery sarcoma affecting the pulmonary valve mistaken as pulmonary vasculitis: a case report and comparative literature review.

Pulmonary arterial sarcomas (PAS) are rare aggressive tumours occurring mainly in the pulmonary trunk. We report a case of PAS involving the pulmonary trunk wall and valve, with uniform wall thickening which represents an atypical imaging manifestation of this tumour. A 63-year-old male presented with vague respiratory symptoms with rapid progression. CTPA showed low density filling defects in both pulmonary arteries and PET scan showed increased uptake in the pulmonary trunk, which along with raised ESR suggested Pulmonary Vasculitis. Echo imaging showed Right ventricular hypertrophy and pulmonary stenosis. Response to steroid therapy was minimal and his symptoms worsened. A referral for second opinion was made and he was diagnosed with PAS. He underwent Pulmonary thromboendarterectomy with Pulmonary valve replacement. Post-operative histopathology confirmed the diagnosis. PAS is rare and frequently misdiagnosed. Surgical resection is not curative, but together with chemotherapy can prolong survival.

The discrepancy of antemortem clinical diagnosis and postmortem autopsy diagnosis of lung pathologies in under-five deaths and the reasons for discrepancies: a case series analysis.

BACKGROUND: Diagnostic autopsy is the most reliable approach to definitively ascertain the cause of death and evaluate the accuracy of antemortem clinical diagnoses. Identifying diagnostic discrepancies is vital to understanding common gaps in antemortem clinical diagnoses and modifying antemortem diagnostic approaches to increase the accuracy of clinical diagnosis. The objective of this study was to determine the frequency of diagnostic discrepancies between antemortem clinical diagnoses and postmortem autopsies on lung pathologies and to understand the reasons for diagnostic discrepancies among cases included in Child Health and Mortality Prevention Surveillance (CHAMPS) in Ethiopia. METHODS: A clinical case series study of deaths among children under-five in the CHAMPS study at three sites in Ethiopia between October 2019 and April 2022 was conducted. The antemortem clinical diagnoses and postmortem pathological diagnoses of the lung were compared for each case. Two senior physicians assessed the findings for both agreement and disagreement. McNemar's test was used to assess for statistically significant differences between antemortem and postmortem diagnoses. RESULTS: Seventy-five cases were included (73.3% male). Over half (54.7%) died between the 1st and 7th day of life. Sepsis (66.7%), pneumonia (6.7%), and meconium aspiration syndrome (5.0%) were the most common immediate causes of death. Half (52%) of cases were correctly diagnosed antemortem. The magnitude of diagnostic discrepancy was 35% (95% CI: 20-47%). The most common contributing factors to diagnostic discrepancy were gaps in knowledge (22/75, 35.5%) and problems in consultation and teamwork (22/75, 35.5%). CONCLUSIONS: Misdiagnoses were common among young children who died with positive lung pathology findings. In-service education initiatives and multidisciplinary collaboration are needed to mitigate high rates of diagnostic discrepancies among young children to potentially prevent future deaths.

Clinical distinctions in symptomatology and psychiatric comorbidities between misdiagnosed bipolar I and bipolar II disorder versus major depressive disorder.

BACKGROUND: To explore the demographic and clinical features of current depressive episode that discriminate patients diagnosed with major depressive disorder (MDD) from those with bipolar I (BP-I) and bipolar II (BP-II) disorder who were misdiagnosed as having MDD . METHODS: The Mini-International Neuropsychiatric Interview (MINI) assessment was performed to establish DSM-IV diagnoses of MDD, and BP-I and BP-II, previously being misdiagnosed as MDD. Demographics, depressive symptoms and psychiatric comorbidities were compared between 1463 patients with BP-I, BP-II and MDD from 8 psychiatric settings in mainland China. A multinomial logistic regression model was performed to assess clinical correlates of diagnoses. RESULTS: A total of 14.5% of the enrolled patients initially diagnosed with MDD were eventually diagnosed with BP. Broad illness characteristics including younger age, higher prevalence of recurrence, concurrent dysthymia, suicidal attempts, agitation, psychotic features and psychiatric comorbidities, as well as lower prevalence of insomnia, weight loss and somatic symptoms were featured by patients with BP-I and/or BP-I, compared to those with MDD. Comparisons between BP-I and BP-II versus MDD indicated distinct symptom profiles and comorbidity patterns with more differences being observed between BP-II and MDD, than between BP-I and MDD . CONCLUSION: The results provide evidence of clinically distinguishing characteristics between misdiagnosed BP-I and BP- II versus MDD. The findings have implications for guiding more accurate diagnoses of bipolar disorders.

Current concepts in clinical features and diagnosis of thoracic outlet syndrome.

The diagnosis and clinical features of thoracic outlet syndrome have long confounded clinicians, owing to heterogeneity in symptom presentation and many overlapping competing diagnoses that are "more common." Despite the advent and prevalence of high-resolution imaging, along with the increasing awareness of the syndrome itself, misdiagnoses and untimely diagnoses can result in significant patient morbidity. The authors aimed to summarize the current concepts in the clinical features and diagnosis of thoracic outlet syndrome.

Unnecessary Explantation of IDEAL IMPLANT Structured Saline Breast Implants Prompted byRadiologic Misdiagnosis of Rupture.

ABSTRACT: The unique dual-lumen and baffle design of the IDEAL IMPLANT Structured Saline breast implant gives it specific advantages over both silicone gel-filled and the original saline-filled implants. This internal baffle structure also gives it an appearance on various radiologic imaging studies that may be misinterpreted as a rupture because of similarities to the well-known radiologic appearance of a ruptured silicone gel implant. Patients may present with various misinterpreted imaging studies, highlighting the need for plastic surgeons and radiologists to be familiar with the normal appearance of the intact IDEAL IMPLANT and be able to distinguish it from a ruptured IDEAL IMPLANT. The radiology findings must be correlated with the clinical findings, or an intact IDEAL IMPLANT misdiagnosed as ruptured, may cause unnecessary patient worry, and may prompt unnecessary surgery for removal or replacement.

Explanatory argumentation in natural language for correct and incorrect medical diagnoses.

BACKGROUND: A huge amount of research is carried out nowadays in Artificial Intelligence to propose automated ways to analyse medical data with the aim to support doctors in delivering medical diagnoses. However, a main issue of these approaches is the lack of transparency and interpretability of the achieved results, making it hard to employ such methods for educational purposes. It is therefore necessary to develop new frameworks to enhance explainability in these solutions. RESULTS: In this paper, we present a novel full pipeline to generate automatically natural language explanations for medical diagnoses. The proposed solution starts from a clinical case description associated with a list of correct and incorrect diagnoses and, through the extraction of the relevant symptoms and findings, enriches the information contained in the description with verified medical knowledge from an ontology. Finally, the system returns a pattern-based explanation in natural language which elucidates why the correct (incorrect) diagnosis is the correct (incorrect) one. The main contribution of the paper is twofold: first, we propose two novel linguistic resources for the medical domain (i.e, a dataset of 314 clinical cases annotated with the medical entities from UMLS, and a database of biological boundaries for common findings), and second, a full Information Extraction pipeline to extract symptoms and findings from the clinical cases and match them with the terms in a medical ontology and to the biological boundaries. An extensive evaluation of the proposed approach shows the our method outperforms comparable approaches. CONCLUSIONS: Our goal is to offer AI-assisted educational support framework to form clinical residents to formulate sound and exhaustive explanations for their diagnoses to patients.

Neurofibromatosis type 1 with huge intrathoracic meningoceles misdiagnosed as pleural effusion: A case report and literature review.

BACKGROUND: Neurofibromatosis type 1 is a genetic disease that affects multiple organs and systems, leading to various clinical manifestations. In Neurofibromatosis type 1, rare intrathoracic meningoceles often occur alongside bone dysplasia. These meningoceles contain cerebrospinal fluid and can be mistakenly diagnosed as 'pleural effusion'. CASE PRESENTATION: In this case report, we mistakenly identified 'cerebrospinal fluid' as 'pleural effusion' and proceeded with drainage. This error posed significant risks to the patient and holds valuable implications for the future diagnosis and treatment of similar patients. CONCLUSIONS: In patients with Neurofibromatosis type 1 complicated by spinal deformity, there is a high incidence of intrathoracic meningoceles. Treatment strategies may differ based on the specific features of the lesions, and collaboration among multiple disciplines can significantly improve patient outcomes.

Navigating diagnostic challenges-distinguishing malignant melanoma and clear cell sarcoma of soft tissues: a case report and review of the literature.

BACKGROUND: Within the spectrum of melanocytic-differentiated tumors, the challenge faced by pathologists is discerning accurate diagnoses, with clear cell sarcoma of soft tissues standing out as a rare and aggressive neoplasm originating from the neural crest. Accounting for 1% of all soft tissue sarcomas, clear cell sarcoma of soft tissues poses diagnostic complexities, often misidentified owing to its phenotypic resemblance to malignant melanoma. This chapter delves into the intricacies of clear cell sarcoma of soft tissues, its epidemiology, characteristic manifestations, and the imperative need for a comprehensive diagnostic approach involving immunohistochemical and molecular analyses. CASE PRESENTATION: A compelling case unfolds as a 25-year-old male from Morocco, initially misdiagnosed with malignant melanoma, experiences tumor recurrence on the second toe. With no history of trauma or familial neoplasia, the patient's clinical journey is explored, emphasizing the importance of detailed clinical examinations and radiological assessments. The chapter elucidates the histopathological findings, immunohistochemical spectrum, and the correlation between clinical parameters and diagnostic inference, ultimately leading to metatarsal amputation. This clinical vignette highlights the multidimensional diagnostic process in soft tissue neoplasms, emphasizing the synergistic role of clinical, radiological, and histopathological insights. CONCLUSION: The diagnostic challenges inherent in melanocytic-differentiated tumors, exemplified by the rarity of soft tissue clear cell sarcoma, underscore the essential role of an integrated diagnostic approach. This concluding chapter emphasizes the perpetual collaboration required across pathology, clinical medicine, and radiology for nuanced diagnostic precision and tailored therapeutic strategies. The rarity of these soft tissue malignancies necessitates ongoing interdisciplinary engagement, ensuring the optimization of prognosis and treatment modalities through a comprehensive understanding of the diagnostic intricacies presented by clear cell sarcoma of soft tissues.

Musculoskeletal misdiagnoses in pediatric patients with spinal tumors.

OBJECTIVE: Childhood spinal tumors often present with musculoskeletal symptoms, potentially causing a misdiagnosis and delays in diagnosis and treatment. This study aims to identify, characterize, and compare children with spinal tumors who had prior musculoskeletal misdiagnoses to those without, analyzing clinical presentation, diagnostic interval, and outcome. STUDY DESIGN: This retrospective cohort study evaluated all children aged 0-14 years diagnosed with a spinal tumor in Denmark from 1996 to 2018. The cohort was identified through the Danish Childhood Cancer Registry, and the registry data were supplemented with data from medical records. The survival was compared using the Kaplan-Meier method. RESULTS: Among 58 patients, 57% (33/58) received musculoskeletal misdiagnoses before the spinal tumor diagnosis. Misdiagnoses were mostly nonspecific (64%, 21/33), involving pain and accidental lesions, while 36% (12/33) were rheumatologic diagnoses. The patients with prior misdiagnosis had less aggressive tumors, fewer neurological/general symptoms, and 5.5 months median diagnostic interval versus 3 months for those without a misdiagnosis. Those with prior misdiagnoses tended to have a higher 5-year survival of 83% (95% confidence interval [CI]: 63%-92%) compared to 66% (95% CI: 44%-82%) for those without (p = .15). CONCLUSION: Less aggressive spinal tumors may manifest as gradual skeletal abnormalities and musculoskeletal symptoms without neurological/general symptoms, leading to misdiagnoses and delays.