Intralabyrinthine schwannomas are a rare subgroup of vestibular schwannomas located within the membranous labyrinth of the inner ear and are known for their variable clinical presentations and symptoms. In the present study, we report on a patient with a persistent history of dizziness and positional vertigo, who was misdiagnosed with posterior canalithiasis. As hearing loss was not developed until late in the disease course, the patient was not properly diagnosed until magnetic resonance imaging revealed an intralabyrinthine schwannoma, which was not discovered on earlier imaging. In addition to the unusual clinical presentation, we describe the audio-vestibular profile of our patient. We suggest that a thorough vestibular evaluation, including caloric testing and a careful examination of the inner ear on imaging, is warranted in cases of treatment of refractory vertigo, even in patients where a diagnosis seems certain.

UNASSIGNED: We report a rare case of cellular schwannoma (CS) manifesting as an ulcerated nodular lesion, mimicking spindle cell melanoma on the sole of the foot. CS, a benign variant of schwannoma, typically occurs in deep soft tissues but can rarely present cutaneously. The diagnosis of CS heavily relies on histopathological examination and immunohistochemical staining for specific markers such as SOX10 and S100. In this case, initial clinical suspicion of nodular melanoma was confirmed on biopsy, which revealed a spindle cell neoplasm positive for SOX10 and negative for melanocytic markers. Misdiagnosis of nodular melanoma was averted through complete excision. CS diagnosis demands careful consideration due to its resemblance to other spindle cell neoplasms, especially melanoma. Meticulous histopathological evaluation and immunostaining are important to differentiate CS from similar lesions, ensuring accurate diagnosis and appropriate management. This report contributes valuable insights into the diagnostic challenges and management of CS, particularly in unusual cutaneous presentations.

Artificial intelligence (AI) in the form of ChatGPT has rapidly attracted attention from physicians and medical educators. While it holds great promise for more routine medical tasks, may broaden one\'s differential diagnosis, and may be able to assist in the evaluation of images, such as radiographs and electrocardiograms, the technology is largely based on advanced algorithms akin to pattern recognition. One of the key questions raised in concert with these advances is: What does the growth of artificial intelligence mean for medical education, particularly the development of critical thinking and clinical reasoning? In this commentary, we will explore the elements of cognitive theory that underlie the ways in which physicians are taught to reason through a diagnostic case and compare hypothetico-deductive reasoning, often employing illness scripts, with inductive reasoning, which is based on a deeper understanding of mechanisms of health and disease. Issues of cognitive bias and their impact on diagnostic error will be examined. The constructs of routine and adaptive expertise will also be delineated. The application of artificial intelligence to diagnostic problem solving, along with concerns about racial and gender bias, will be delineated. Using several case examples, we will demonstrate the limitations of this technology and its potential pitfalls and outline the direction medical education may need to take in the years to come.

BACKGROUND: Managing diagnostic uncertainty is a major challenge in primary care due to factors such as the absence of definitive tests, variable symptom presentations and disease evolution. Maintaining patient trust during a period of investigative uncertainty, whilst minimising scope for diagnostic error is a challenge. Mismanagement can lead to diagnostic errors, treatment delays, and suboptimal patient outcomes.
OBJECTIVE: Our aim was to explore how UK primary care physicians (GPs) address and communicate diagnostic uncertainty in practice.
METHODS: This qualitative study used video and audio-recordings. Verbatim transcripts were coded with a modified, validated tool to capture GPs\' actions and communication in primary care consultations that included diagnostic uncertainty. The tool includes items relating to advice regarding new symptoms or symptom deterioration (sometimes called \'safety netting\'). Video data was analysed to identify GP and patient body postures during and after the delivery of the management plan.
METHODS: All patient participants had a consultation with a GP, were over the age of 50 and had (1) at least one new presenting problem or (2) one persistent problem that was undiagnosed.
METHODS: Data collection occurred in GP-patient consultations during 2017-2018 across 7 practices in UK during 2017-2018.
RESULTS: GPs used various management strategies to address diagnostic uncertainty, including (1) symptom monitoring without treatment, (2) prescribed treatment with symptom monitoring, and (3) addressing risks that could arise from administrative tasks. GPs did not make management plans for potential treatment side effects. Specificity of uncertainty management plans varied among GPs, with only some offering detailed actions and timescales. The transfer of responsibility for the management plan to patients was usually delivered rather than negotiated, with most patients confirming acceptance before concluding the discussion.
CONCLUSIONS: We offer guidance to healthcare professionals, improving awareness of using and communicating management plans for diagnostic uncertainty.

Autopsy of infants can provide vital information about the cause of death and contributes to the detection of diagnostic errors, especially in a low- or middle-income country. To observe the clinicopathological agreement in neonatal deaths in neonatal intensive care units (NICU) and comment on the additional information retrieved by autopsy. A retrospective observational study was conducted in the NICU from January 2020 to December 2022. Neonatal deaths were analyzed, and clinical details and autopsy findings were collected. Both clinical and pathological diagnoses were classified according to the Goldman classification. Twenty-two newborn infants were enrolled. The mean gestational age was 33.5 (±4.38) weeks, and the median birth weight was 1510 (1005-2100) g. There was complete concordance between clinical and pathological diagnosis in 11 (50%) cases. Major diagnostic errors occurred in 41% of cases. Respiratory system disorders (lung infections, airway anomalies) accounted for six (54%) cases of missed diagnosis. Our study showed that the diagnosis was revised after autopsy in about one-third of cases, and newer findings were identified in one-fifth of cases.

BACKGROUND: 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.
METHODS: 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.
METHODS: 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).
METHODS: Doxycycline treatment for 1 week.
RESULTS: The patients\' symptoms quickly improved with no side effects, and the results of laboratory tests went back to normal.
CONCLUSIONS: 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.

BACKGROUND: Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations (RVCL-S) is a rare autosomal dominant systemic microvascular disorder attributed to TREX1 (three-prime repair exonuclease-1) gene mutations, often proned to misdiagnosed.
METHODS: We reported a case of RVCL-S coexisting with systemic lupus erythematosus due to a mutation in the TREX1 gene. This study provided a summary and discussion of previously documented cases related to TREX1 mutations or RVCL-S.
RESULTS: A 39-year-old female patient visited the clinic due to progressive memory loss and speech difficulties. Magnetic resonance imaging results showed corpus callosum atrophy and multiple subcortical calcifications in both brain hemispheres. Genetic testing revealed a TREX1 gene mutation (c.294dupA). Treatment with immunosuppressive therapy for 2 months led to improvements in communication and mobility. We also summarized previously reported cases providing an overview of TREX1 gene mutation or RCVL-S.
CONCLUSIONS: Our case establishes a compelling foundation for future RVCL-S diagnosis and treatment paradigms. Notably, conducting systemic immunity screening in patients with RVCL-S emerges as a strategic approach to prevent potential diagnostic oversights.

BACKGROUND Tuberculosis spondylitis, also known as Pott disease, is a rare form of the ancient infectious disease tuberculosis. It bears a complex clinical and radiological profile, often necessitating an extensive differential diagnostic approach for accurate identification. The disease was named in honor of the first diagnosed patient, highlighting its historical significance. CASE REPORT We report a case involving a 69-year-old male initially admitted to the Pulmonology Department under the suspicion of a left lung tumor, as indicated by a chest X-ray. A subsequent CT scan revealed a tumor-hilar mass, enlarged subcarineal lymph nodes, and a pathological mass at the C6/C7 vertebral level. Despite negative tuberculosis tests, the patient was misdiagnosed with disseminated lung cancer with spinal metastases. Following radiotherapy targeting the cervical and thoracic spine, the definitive diagnosis of spinal tuberculosis was confirmed via histopathological examination from an open biopsy of the C6 and C7 vertebrae. CONCLUSIONS Tuberculosis can present with an insidious and misleading clinical picture, often mimicking other diseases such as cancer. Early and accurate diagnostic processes are crucial for effective treatment. This case underscores the importance of considering tuberculosis in the differential diagnosis, especially when clinical presentations are ambiguous.

Reader variability is intrinsic to radiologic oncology assessments, necessitating measures to enhance consistency and accuracy. RECIST 1.1 criteria play a crucial role in mitigating this variability by standardizing evaluations, aiming to establish an accepted \"truth\" confirmed by histology or patient survival. Clinical trials utilize Blind Independent Centralized Review (BICR) techniques to manage variability, employing double reads and adjudicators to address inter-observer discordance effectively. It is essential to dissect the root causes of variability in response assessments, with a specific focus on the factors influencing RECIST evaluations. We propose proactive measures for radiologists to address variability sources such as radiologist expertise, image quality, and accessibility of contextual information, which significantly impact interpretation and assessment precision. Adherence to standardization and RECIST guidelines is pivotal in diminishing variability and ensuring uniform results across studies. Variability factors, including lesion selection, new lesion appearance, and confirmation bias, can have profound implications on assessment accuracy and interpretation, underscoring the importance of identifying and addressing these factors. Delving into the causes of variability aids in enhancing the accuracy and consistency of response assessments in oncology, underscoring the role of standardized evaluation protocols and mitigating risk factors that contribute to variability. Access to contextual information is crucial. CRITICAL RELEVANCE STATEMENT: By understanding the causes of diagnosis variability, we can enhance the accuracy and consistency of response assessments in oncology, ultimately improving patient care and clinical outcomes. KEY POINTS: Baseline lesion selection and detection of new lesions play a major role in the occurrence of discordance. Image interpretation is influenced by contextual information, the lack of which can lead to diagnostic uncertainty. Radiologists must be trained in RECIST criteria to reduce errors and variability.

OBJECTIVE: To analyze the differences of clinical features of acute gout flare and postoperative infection under arthroscopy of knee gouty arthritis patients to offer guiding opinions of clinical diagnosis and treatment.
METHODS: Between January 2017 and December 2022, 235 patients with gouty knee osteoarthritis were admitted, and underwent arthroscopic debridement combined with synovectomy. Among them, 35 cases had fever with a temperature higher than 38 °C postoperatively while acute inflammatory appears under redness, swelling, heat and pain of the operated joints. There were 29 males and 6 females, with an average age of (41.48±13.90) years old. Among them 23 patients were diagnosed with acute gout attack, and recovered well after being given colchicine and prednisolone;12 patients were diagnosed with postoperative joint infection, and were cured after being given anti-infective treatments and cleaning and rinsing of the joint cavity. The two groups of patients were compared and analyzed in terms of preoperative general data, surgical conditions, hematology, joint fluid, limb function and other clinical characteristics.
RESULTS: There were no significant difference in the preoperative general data between two groups. The onset of fever in the postoperative acute gout flare group occurred mostly within 48 hours, significantly earlier than that in the postoperative infection group(P=0.037). The visual analogue scale score was significantly higher in the acute gout flare group (5.32±1.38) score than in the postoperative infection group (2.45±0.68) score (P=0.000), while 14 patients with acute gout flare were accompanied by severe pain in other joints. Hematologically, indicators such as white blood cell counts and ratios were significantly higher in both groups. In terms of inflammatory indicators, IL-6, erythrocyte sedimentation rate, procalcitonin and other inflammatory indicators were significantly elevated in both groups, but there was no statistical difference between two groups. The C-reactive protein level in the postoperative infection group (220.97±116.30) mg·L-1 was higher than that in the postoperative acute gout attack group(120.67±82.45) mg·L-1(P=0.006). Blood uric acid (316.55±112.84) μmol·L-1 was higher in the acute postoperative gout flare group than in the postoperative infection group (159.14±126.92) μmol·L-1(P=0.001). In the joint fluid examination of the postoperative infection group, the glucose metabolism indicator was significantly lower than that of the acute gout flare group, and five of them had positive bacterial cultures.
CONCLUSIONS: The symptoms of acute gout flare could be mistaken as postoperative infection due to their similarity, therefore requires careful differentiation. Differential diagnosis should be based on a combination of clinical signs, hematology and joint fluid findings, and targeted treatment should be given to avoid serious complications.