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Agenesis or hypoplasia of the internal carotid artery (ICA) may easily be confused with dissection or occlusion. We report a case of a 24-year-old female with complaint of acute left-hand hypoesthesia and a history of occasional intermittent numbness of her right hand with myoclonic jerking. Because previous imaging studies over 2 years were interpreted as occlusion of the left ICA secondary to carotid dissection, the treating physician had prescribed anticoagulant therapy. During transcranial Doppler (TCD) examination, the spectral waveform was unexpectedly normal, prompting a repeat review of all imaging due to the TCD results. Magnetic resonance angiography (MRA) revealed the same "flame-like" appearance of the ICA origin. Late-phase digital subtraction angiography showed a small caliber cervical ICA (occluded at the skull base). Computed tomography demonstrated absence of the carotid canal, confirming an absent intracranial portion of the ICA and establishing a correct diagnosis of left internal carotid hypoplasia. Vascular ultrasound and TCD examinations are noninvasive and inexpensive tools that can improve the interpretation and understanding of the clinical significance of other "static" radiographic tests (MRA, digital subtraction angiography ). An accurate diagnosis is essential to avoid risky, aggressive treatment, such as anticoagulation for an "absent" dissection.

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PURPOSE: To determine the misclassification rate of the keratoconus percentage (KISA%) index efficacy in eyes with progressive keratoconus. METHODS: This was a retrospective case-control study of consecutive patients with confirmed progressive keratoconus and a contemporaneous normal control group with 1.00 diopters or greater regular astigmatism. Scheimpflug imaging (Pentacam HR) was obtained for all patients. KISA% index and inferior-superior (IS) values were obtained from the Pentacam topometric/keratoconus staging map. Receiver operating characteristic curves were generated to determine the area under the receiver operating characteristic curve (AUROC), sensitivity, and specificity values. RESULTS: There were 160 eyes from 160 patients evaluated, including 80 eyes from 80 patients with progressive keratoconus and 80 eyes from 80 control patients. There were 20 eyes (25%) with progressive keratoconus misclassified by the KISA% index, with 16 eyes (20%) of the progressive keratoconus cohort classified as normal (ie, KISA% < 60). There were 4 eyes (5%) with progressive keratoconus that would classify as having "normal topography" using the published criteria for very asymmetric ectasia with normal topography of KISA% less than 60 and IS value less than 1.45. All controls had a KISA% index value of less than 15. The optimal cut-off value to distinguish cohorts was 15.31 (AUROC = 0.972, 93.75% sensitivity). KISA% index values of 60 and 100 achieved low sensitivity (80% and 73.75%, respectively). CONCLUSIONS: The KISA% index misclassified a significant proportion of eyes with progressive keratoconus as normal. Although highly specific for clinical keratoconus, the KISA% index lacks sensitivity, does not effectively discriminate between normal and abnormal topography, and thus should not be used in large data analysis or artificial intelligence-based modeling. [J Refract Surg. 2024;40(9):e614-e624.].

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A 35-year-old woman was initially misdiagnosed with a muscular ventricular septal defect but was later correctly diagnosed with a double-chambered left ventricle following evaluation by echocardiography and cardiac computed tomography.

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OBJECTIVE: Ulcerative colitis and Crohn's disease are chronic inflammatory diseases and represent the two most important types of inflammatory bowel diseases (IBD), while spondyloarthritis (SpA) comprises a heterogeneous group of systemic inflammatory chronic rheumatic diseases, including peripheral SpA and axial SpA. Joint manifestations are the most commonly observed extraintestinal manifestations, and they can precede or not the diagnosis of IBD. Notably, in women, misdiagnoses of IBD as irritable bowel syndrome and SpA as fibromyalgia are common, leading to delayed diagnoses, increased disease burden, and poorer prognoses. This narrative review emphasizes the critical role of diagnostic tools in facilitating early referrals of IBD patients with suspected SpA and vice versa to rheumatologists and gastroenterologists, respectively. Special attention is given to the multidisciplinary approach for more effective management of these conditions, particularly in female patients. METHODS: In this narrative review, we critically evaluated the literature on this topic, focusing on papers written in English that address female issues in IBD and SpA. RESULTS: IBD and SpA are chronic inflammatory disorders often occurring in the same patients. Female patients are often misdiagnosed, and this delay in diagnosis is associated with a higher disease burden and a poorer prognosis. CONCLUSIONS: A multidisciplinary approach is needed to enable early referral between gastroenterologists and rheumatologists, as this means a better prognosis for patients with a reduction in the economic and social burden associated with IBD and SpA.

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OBJECTIVE: The journey to a diagnosis of spondyloarthritis (SpA) can be difficult for women, who often experience delays in receiving the correct diagnosis as their symptoms are frequently misinterpreted due to other conditions like osteoarthritis, fibromyalgia, or other psychosomatic disorders. The purpose of this article is to examine the challenges in the diagnosis of SpA in women and the possible role of musculoskeletal ultrasound in early diagnosis and in avoiding misdiagnosis. METHODS: We have performed a narrative review of the currently available literature on the subject. RESULTS: The complexity of diagnosing SpA in women is compounded by the misconception that the disease predominantly affects men. To facilitate early diagnosis and prevent misdiagnosis, it is crucial not to overlook gender differences in the clinical presentation of SpA. Since women have more peripheral and enthesitic involvement, performing an ultrasound of entheses, tendons, and joints in women with musculoskeletal symptoms that could refer to SpA may help both in the early and differential diagnosis. CONCLUSIONS: There is a need to increase awareness among physicians of the existence of a different clinical presentation of SpA between men and women. The use of musculoskeletal ultrasound, which allows the detection of even subclinical inflammation and structural damage since early disease at the level of joints, tendons, and entheses can help make an early diagnosis and avoid misdiagnosis. Early diagnosis and timely treatment of SpA are crucial to reducing irreversible damage.

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BACKGROUND: Renal epithelioid angiomyolipoma is a rare and unique subtype of classic angiomyolipoma, characterized by the presence of epithelioid cells. It often presents with nonspecific symptoms and can be easily misdiagnosed due to its similarity to renal cell carcinoma and classic angiomyolipoma in clinical and radiological features. This case report is significant for its demonstration of the challenges in diagnosing epithelioid angiomyolipoma and its emphasis on the importance of accurate differentiation from renal cell carcinoma and classic angiomyolipoma. CASE PRESENTATION: A 58-year-old Asian female presented with sudden left flank pain and was initially diagnosed with a malignant renal tumor based on imaging studies. She underwent laparoscopic radical nephrectomy, and postoperative histopathology confirmed the diagnosis of epithelioid angiomyolipoma. The patient recovered well and is currently in good health with regular follow-ups. This case highlights the diagnostic challenges, with a focus on the clinical, radiological, and histopathological features that eventually led to the identification of epithelioid angiomyolipoma. CONCLUSIONS: Epithelioid angiomyolipoma is easily misdiagnosed in clinical work. When dealing with these patients, it is necessary to make a comprehensive diagnosis based on clinical symptoms, imaging manifestations, and pathological characteristics.

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Background: Pythium insidiosum (P. insidiosum) is the causative agent of pythiosis, an infectious disease with a high morbidity and fatality rate. Pythiosis cases have increased dramatically during the past ten years, particularly in tropical and subtropical areas. Sadly, microbiologists and medical professionals know very little about pythiosis, and the disease is frequently challenging to identify. It is frequently misdiagnosed as a fungal infection. Methods: We report two cases of pythiosis, one was Pythium keratitis, the other was cutaneous pythiosis. The patient with corneal infection had no underlying disease, while the patient with cutaneous pythiosis had a history of liver cirrhosis, diabetes, and psoriasis. The corneal sample and subcutaneous pus were sent for metagenomic Next-Generation Sequencing (mNGS). To further diagnose the isolated strain, P. insidiosum zoospores were induced to produce by co-incubation with sterile grass leaves in sterile pond water. Their zoospores were used as an inoculum for drug susceptibility testing by disk diffusion and broth microdilution method. Results: The mNGS of two cases were reported as P. insidiosum. Zoospores were produced after incubation 48h. The zoospores were collected for drug susceptibility assay. All antifungal drugs, antibacterial drugs of ß-Lactams, vancomycin, levofloxacin, ciprofloxacin, gentamicin, trimethoprim-sulfamethoxazole, clindamycin have no inhibitory activity against P. insidiosum in vitro. Minocycline, tigecycline, linezolid, erythromycin and azithromycin have significant in vitro activity against P. insidiosum. Based on the susceptibility results, the drug was changed from itraconazole to linezolid and minocycline, along with multiple debridements and drainage for cutaneous pythiosis. The patient was discharged after 24 days of treatment. Conclusions: Early and accurate identification, combined with aggressive surgical debridement and appropriate drug therapy, can greatly improve patient managements. Conventional culture and zoospore induction remain gold standard for diagnosis; however, DNA-based method should be performed simultaneously. The drug susceptibility testing provides profound effects on proper drug selection against P. insidiosum.

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BACKGROUND: Prostate tuberculosis (TB) is a rare and often underdiagnosed condition due to its nonspecific symptoms and imaging features, which can mimic malignancies on 18F-fluorodeoxyglucose positron emission tomography (PET) scans. This resemblance poses a challenge in differentiating TB from prostate cancer, especially in patients with preexisting tumors such as diffuse large B-cell lymphoma. The purpose of this study is to highlight the importance of considering TB in the differential diagnosis of patients with atypical imaging findings, even in the presence of known malignancies. CASE: We present a case of a 60-year-old man with diffuse large B-cell lymphoma who was initially misdiagnosed with a prostate tumor based on 18F-fluorodeoxyglucose PET/computed tomography scans. The subsequent ultrasound-guided prostate biopsy confirmed the presence of prostate TB, not malignancy. CONCLUSIONS: This case report underscores the critical role of considering TB as a potential diagnosis in patients with hematological tumors and atypical imaging results. It serves as a reminder for clinicians to exercise caution when interpreting PET/computed tomography scans and to incorporate TB into their differential diagnoses, thereby avoiding misdiagnosis and inappropriate treatment.

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BACKGROUND: Crystalloid storage histiocytosis (CSH) is a rare clinical condition characterized by abnormally high numbers of histiocytes with a large accumulation of crystalline immunoglobulins. Due to its relative rarity, clinical diagnosis of it is frequently incomplete or incorrect. We report a case with pulmonary crystal-storing histiocytosis that was mistakenly identified as lung carcinoma. METHODS: Percutaneous lung biopsy, bronchoscopy. RESULTS: Percutaneous lung biopsy pathology shows granulomatous inflammation with massive eosinophilic infiltration, immunohistochemistry shows CD68, kappa positive, S-100, desmin, myogenin, lambda negative. The final diagnosis is pulmonary crystal-storing histiocytosis. CONCLUSIONS: To get pathology tissue for a definitive diagnosis, patients with pulmonary nodules who have changes in tumor markers or nodule size should have bronchoscopy or percutaneous lung biopsy done as soon as possible.

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This cohort study examines whether machine learning (ML) can enhance the ability of electronic triggers to identify possible missed opportunities in diagnosis.

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INTRODUCTION: Missed fractures are the most frequent diagnostic error attributed to clinicians in UK emergency departments and a significant cause of patient morbidity. Recently, advances in computer vision have led to artificial intelligence (AI)-enhanced model developments, which can support clinicians in the detection of fractures. Previous research has shown these models to have promising effects on diagnostic performance, but their impact on the diagnostic accuracy of clinicians in the National Health Service (NHS) setting has not yet been fully evaluated. METHODS AND ANALYSIS: A dataset of 500 plain radiographs derived from Oxford University Hospitals (OUH) NHS Foundation Trust will be collated to include all bones except the skull, facial bones and cervical spine. The dataset will be split evenly between radiographs showing one or more fractures and those without. The reference ground truth for each image will be established through independent review by two senior musculoskeletal radiologists. A third senior radiologist will resolve disagreements between two primary radiologists. The dataset will be analysed by a commercially available AI tool, BoneView (Gleamer, Paris, France), and its accuracy for detecting fractures will be determined with reference to the ground truth diagnosis. We will undertake a multiple case multiple reader study in which clinicians interpret all images without AI support, then repeat the process with access to AI algorithm output following a 4-week washout. 18 clinicians will be recruited as readers from four hospitals in England, from six distinct clinical groups, each with three levels of seniority (early-stage, mid-stage and later-stage career). Changes in the accuracy, confidence and speed of reporting will be compared with and without AI support. Readers will use a secure web-based DICOM (Digital Imaging and Communications in Medicine) viewer (www.raiqc.com), allowing radiograph viewing and abnormality identification. Pooled analyses will be reported for overall reader performance as well as for subgroups including clinical role, level of seniority, pathological finding and difficulty of image. ETHICS AND DISSEMINATION: The study has been approved by the UK Healthcare Research Authority (IRAS 310995, approved on 13 December 2022). The use of anonymised retrospective radiographs has been authorised by OUH NHS Foundation Trust. The results will be presented at relevant conferences and published in a peer-reviewed journal. TRIAL REGISTRATION NUMBERS: This study is registered with ISRCTN (ISRCTN19562541) and ClinicalTrials.gov (NCT06130397). The paper reports the results of a substudy of STEDI2 (Simulation Training for Emergency Department Imaging Phase 2).

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BACKGROUND Polycythemia vera (PV) is a myeloproliferative neoplasm (MPNs) marked by elevated hemoglobin and hematocrit, which can lead to thromboembolic events and progress to myelofibrosis or acute myeloid leukemia (AML). MPNs, including PV, are relatively rare in Malaysia, and there is currently no recent published data reporting the demographics and outcomes of PV patients in the country. In Western countries, routine annual blood tests are standard, whereas this practice is less common in Malaysia, underscoring the need for improved awareness and accessibility to ensure timely diagnosis of PV. CASE REPORT This report presents a case of a 55-year-old Malaysian woman in a primary care setting, initially misdiagnosed with benign conditions due to atypical presentations of recurrent bilateral eye redness and dizziness. Persistent symptoms led to further evaluation by primary care and hematologist, which revealed elevated hemoglobin, hematocrit, leukocytosis, JAK2 V617F mutation, and low serum erythropoietin levels, confirming PV, even without proceeding with a bone marrow biopsy. Treatment with phlebotomy, hydroxyurea, and aspirin resulted in significant improvements in ocular symptoms and hematological parameters within 60 days. CONCLUSIONS This case underscores the critical role of primary care in the early detection of polycythemia vera. Timely identification and appropriate referral from primary care settings are essential to avoid diagnostic delays and ensure effective management, improving patient outcomes and preventing complications.

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In this case report, a 33-year-old pregnant woman with migraine and visual aura complained of headache, nausea, and blurred vision. Clinically, she presented with bilateral dilated and fixed pupils, ptosis, and tearing. She was erroneously diagnosed as having a migraine attack, but after referral to an ophthalmological department she was diagnosed with bilateral acute angle closure. At one-year follow-up her visual acuity was normalized but the severe visual field defects affected her daily activities and prevented her from having a driving licence.

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Neuromyelitis optic spectrum diseases (NMOSD) are a group of rare neuroimmunological diseases involving mainly the optic nerves and spinal cord, to a lesser extent the brain, and causing severe exacerbations that lead to persistent disability of patients. For many years, opticoneuromyelitis was considered a prognostically unfavorable variant of the course of multiple sclerosis (MS), however, in 2004, specific autoantibodies to aquaporin-4 were found in such patients, which made it possible to isolate NMOSD into a separate group of demyelinating diseases other than MS. Due to similar clinical signs and the predominantly remitting course of diseases, it is often difficult to make a correct diagnosis and, accordingly, prescribe effective therapy, which often leads to incorrectly selected therapy with incorrect diagnosis. In some cases, this leads to a worsening of the course of NMOSD. We present a case of late diagnosis of NMOSD that confirms the development of exacerbation in the patient 2 months after the first course of therapy with alemtuzumab prescribed as a highly effective therapy for highly active remitting MS. Timely diagnosis of NMOSD makes it possible to exclude such cases.

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OBJECTIVES: To document the case of a patient who underwent several endodontic treatments due to a glandular odontogenic cyst misdiagnosed as an inflammatory periapical lesion. BACKGROUND: Glandular odontogenic cysts behave more aggressively, while others have an indolent course. There is limited information on this cyst in the gerodontologic literature. MATERIALS AND METHODS: A 76-year-old male patient presented with an asymptomatic expansive lesion in the anterior mandible resistant to several endodontic treatments. Cone-beam computed tomography revealed a multilocular osteolytic lesion measuring 6.0 × 4.0 cm, with cortical bone perforation. RESULTS: Histopathological analysis of a biopsy specimen was consistent with glandular odontogenic cyst. The patient underwent marginal mandibulectomy with preservation of the base of the mandible. CONCLUSION: A strict diagnostic process is important to avoid unwanted consequences, particularly in the geriatric population.

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BACKGROUND: Tuberculosis often presents on imaging in the form of a solitary nodule, sometimes accompanied by elevated CEA, which is clinically difficult to differentiate from lung cancer and prone to misdiagnosis. METHODS: Lung tissue taken by lung biopsy and sent for NGS and Xpert MTB/RIF finally led to the definitive diag-nosis of nodular foci in the upper lobe of the left lung caused by tuberculosis. RESULTS: Enhanced CT of the chest showed nodular foci in the upper lobe of the left lung. Initially the nodules were thought to be malignant, but after a series of tests, were finally confirmed to be tuberculosis. CONCLUSIONS: In patients with lung disease, when chest imaging reveals a space-occupying lesion accompanied by an elevated CEA level, a comprehensive analysis of the type of lung disease, the patient's age, and comorbidities should be performed before final diagnosis to avoid misdiagnosis and delay in appropriate treatment.

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BACKGROUND: To investigate the effect of different working periods on missed diagnoses in patients with colorectal polyps in colonoscopy. METHODS: We conducted a retrospective analysis of patients who were diagnosed with colorectal polyps during colonoscopy in an outpatient department between July and December 2022. These patients were subsequently hospitalized for resection during this period. Patients with missed diagnoses were those who had newly discovered polyps in a second colonoscopy. The working periods were categorized as work, near the end of work, and delayed work, respectively, in the morning and afternoon. RESULTS: A total of 482 patients were included, and the miss rate of diagnosis was 48.1% (232/482), mainly in the transverse colon (25%), and the ascending colon (23%). Patient age was a risk factor for the miss rate of diagnosis (OR = 1.025, 95%CI: 1.009-1.042, P = 0.003) and was also associated with the number of polyps detected for the first colonoscopy (χ2 = 18.196, P = 0.001). The different working periods had no statistical effect on the missed rate of diagnosis (χ2 = 1.998, P = 0.849). However, there was an increasing trend in miss rates towards the end of work and delayed work periods, both in the morning and afternoon. The highest miss rate (60.0%) was observed during delayed work in the afternoon. Additionally, poor bowel preparation was significantly more common during delayed work in the afternoon. CONCLUSIONS: The increasing trend in miss rates towards the end of work and delayed work periods deserves clinical attention. Endoscopists cannot always stay in good condition under heavy workloads.

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BACKGROUND Common causes of severely elevated transaminases, especially alanine transaminase, due to liver diseases include drug-induced liver injury and acute viral hepatitis, especially hepatitis E, which can present similarly in clinical practice. Broad differential diagnostic workup in patients with elevated transaminases is required to not overlook the possibility of hepatitis E infection. CASE REPORT We report on a 65-year-old asymptomatic man who was referred to the Emergency Department from the rehabilitation center due to markedly elevated liver transaminases. Physical examination revealed no jaundice or abdominal pain. Laboratory findings included severely elevated aspartate transaminase, alanine transaminase, and bilirubin levels. He was previously treated with imipenem/cilastatin and clindamycin for a surgical site infection of his jaw after the removal of a squamous cell carcinoma 2 weeks earlier. An ultrasound of the liver was unremarkable. Drug-induced liver injury was suspected, and all potentially hepatotoxic drugs, including antibiotics, were stopped. Due to the rapid and marked increase in liver transaminases, further tests were performed, including testing for hepatitis E. Serum anti-hepatitis E virus immunoglobulin M, immunoglobulin G antibodies, and hepatitis E virus-ribonucleic acid-polymerase chain reaction turned positive, and the diagnosis of hepatitis E was confirmed. Supportive care was applied. Liver transaminases decreased spontaneously. CONCLUSIONS The diagnostic workup in patients with markedly elevated liver transaminases and suspected drug-induced liver injury should include the screening for hepatitis E. Making the correct diagnosis is crucial given the differing treatment approaches, the implications on further therapy, and the risk of contagion of hepatitis E.

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RATIONALE: The geographic spread of Japanese spotted fever (JSF) in China is gradually expanding, particularly in regions where severe fever with thrombocytopenia syndrome (SFTS) is highly prevalent, with both diseases sharing similarities in epidemiology and clinical presentation. The microbiological diagnosis of JSF is challenging, compounded by low awareness among healthcare professionals in newly affected areas. Moreover, primary healthcare facilities without polymerase chain reaction (PCR) testing capabilities for SFTS often misdiagnose JSF as SFTS. PATIENT CONCERNS: All 3 patients had a history of working in the fields, with cold like symptoms in the early fever stages, but the fever did not improve after a few days. The accompanying symptoms were also very different. Physical examination revealed enlarged lymph nodes, different forms of rash, with or without eschar. Laboratory tests showed thrombocytopenia, eosinophilia, elevated lactate dehydrogenase, and transaminase, with 1 patient experiencing renal damage. It is worth noting that these 3 patients reside in an area where SFTS is endemic, and there have been no prior reports of JSF. They exhibited clinical symptoms and laboratory test results closely resembling those of SFTS. Therefore, they were initially misdiagnosed with SFTS in their local hospitals. DIAGNOSES: The 3 patients who arrived at our hospital 7 days after symptom onset and were subsequently diagnosed with JSF by metagenomic next-generation sequencing (mNGS). INTERVENTIONS: Doxycycline treatment for 1 week. OUTCOMES: The patients' symptoms quickly improved with no side effects, and the results of laboratory tests went back to normal. LESSONS: By comparing the clinical characteristics of JSF patients and SFTS patients comprehensively, we found that APTT and procalcitonin levels may be valuable in assisting in the identification of SFTS and JSF. In all areas where tick-borne diseases are endemic, include SFTS-epidemic areas, we recommend using the Weil-Felix test to screen for potential rickettsiosis in patients presenting with fever and thrombocytopenia with or without rash in primary healthcare settings, as well as simultaneous testing for the SFTS virus and spotted fever group rickettsioses sequence. Additionally, mNGS sequencing should be used to confirm the diagnosis and provide information for epidemiological investigations in patients who are suspected of having spotted fever group rickettsiosis.

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