Potential Misdiagnosis Research Articles

P0564 Sexually Transmitted Infections Mimicking Inflammatory Bowel Diseases: Case Series of Infectious Proctitis

Abstract Background Sexually transmitted infections (STIs) are increasingly recognized as causes of proctitis, particularly among men who have sex with men (MSM). These infections frequently mimic inflammatory bowel diseases (IBD) in clinical, endoscopic, and histological presentations, leading to potential misdiagnosis and inappropriate treatments. Accurate recognition requires detailed sexual history and targeted diagnostic tests. Methods Patients were identified from IBD outpatient visits (2021–2023) and retrospectively selected for suspected infectious proctitis mimicking IBD. Diagnosis was confirmed via clinical evaluation, targeted tests (rectal swabs, PCR, serology), and histology. Follow-up continued for six months post-treatment. Results 1. A 42-year-old MSM with secondary syphilis treated with benzathine penicillin presented with bloody diarrhea, tenesmus, anorectal pain, and 10-kg weight loss. Mild anemia (Hb 12 g/dL) and elevated CRP were noted. Rectosigmoidoscopy (RSCS) revealed fibrinous ulcers causing luminal narrowing. Rectal swabs confirmed Chlamydia trachomatis. Treatment with doxycycline led to clinical and endoscopic resolution at six months. 2. A 33-year-old MSM with unprotected intercourse reported mucorrhea and tenesmus for one month. Calprotectin levels were elevated (861 µg/g). Colonoscopy revealed mild proctitis with mucosal hyperemia, and histology showed mild-to-moderate inflammation with crypt abscesses. Swabs confirmed Neisseria gonorrhoeae. Ceftriaxone resolved symptoms and normalized calprotectin (40 µg/g). 3. A 34-year-old male with primary sclerosing cholangitis (PSC) presented with two weeks of tenesmus, anal bleeding, and pruritus. Colonoscopy appeared macroscopically normal, but histology revealed human papillomavirus (HPV) infection. Anal canal condylomas were identified and successfully treated with cryotherapy, resulting in significant relief. Conclusion The rising prevalence of STI-related proctitis highlights the need for awareness among clinicians, as these infections often mimic IBD. Misdiagnosis can lead to inappropriate treatments, including steroids or biologics, causing adverse effects and delays in proper management. Detailed sexual history and targeted diagnostics, such as PCR and rectal swabs, are critical for accurate identification and effective treatment. These cases emphasize the critical role of integrating sexual history into clinical evaluation for proctitis. Awareness and timely recognition of STI-related proctitis are crucial to avoid misdiagnosis as IBD, ensure effective and targeted treatment, improve patient outcomes, and prevent inappropriate and prolonged follow-up. References -Infectious Proctitis: When to Suspect It Is Not InflammatoryBowel DiseaseFrank Hoentjen • David T. Rubin (Dig Dis Sci (2012) 57:269–273) -Proctitis: a glance beyond inflammatory bowel diseasesStefano Rizza et all Minerva Gastroenterol Dietol. 2020 Sep;66(3):252-266 -Proctitis in Men Who Have Sex with Men. Julia M. Steed et all

Non-Thrombotic Filling Defects in Cerebral Veins and Sinuses: When Normal Structures Mimic a Disease.

Cerebral venous thrombosis (CVT) is a rare and potentially critical cerebrovascular disease involving intracranial dural sinuses and veins. The diagnosis is a stepwise pathway starting from clinical suspicion and employing several neuroradiological techniques, mainly Computed Tomography (CT)-based and Magnetic Resonance Imaging (MRI)-based modalities. The neuroradiological findings, both in the diagnostic phase and in the follow-up phase, may provide some results at risk for misdiagnosis. Non-thrombotic filling defects of intracranial dural sinuses are among them, and the potential sources are artefactual and or anatomical (venous septa and arachnoid granulations). The misdiagnosis of these findings as CVT is potentially linked to dangerous consequences. A potential strategy to avoid this is to increase the knowledge about technical and anatomical reasons for non-thrombotic filling defects of intracranial dural sinuses and their imaging features. The main aim of this review is to address these issues, including the variability of the intracranial venous pathways, providing the solutions for overcoming the above-cited potential misdiagnosis of non-thrombotic filling defects as CVT.

CERVICAL TUBERCULOSIS MIMICKING MALIGNANCY: CASE REPORT

Cervical tuberculosis is an uncommon condition that often mimics cervical cancer in clinical presentations, leading to potential misdiagnosis. The definitive diagnosis is typically established through biopsy, which allows for the identification of characteristic histopathological features. Medical management is the primary approach for treating cervical tuberculosis, involving the use of antitubercular therapy tailored to the patients needs. However, the prognosis for young women diagnosed with this condition can be complicated by the risk of infertility, especially in cases where there is concurrent involvement of the uterine tubes.

Approach to the Diagnosis and Management of Complex Fascicular Ventricular Tachycardias.

Complex ventricular tachycardias involving the fascicular system (fascicular ventricular tachycardias [FVTs]) can be challenging. In this review, we describe our approach to the diagnosis and ablation of these arrhythmias with 10 illustrative cases that involve (1) differentiation from supraventricular tachycardia; (2) assessment for atypical bundle branch reentry and other interfascicular FVTs; (3) examination of P1/P2 activation sequences in sinus rhythm, pacing, and tachycardia; and (4) entrainment techniques to establish the tachycardia mechanism and aid circuit localization. To summarize, 5 cases had prior ablation with 2 previously misdiagnosed as supraventricular tachycardia. A short His-ventricular interval supported ventricular tachycardia. Atrial stimulation could initiate and entrain 4 FVTs. P1 potentials were recorded in all cases of left posterior FVT. Entrainment at P1 and P1 to P2 connection sites at the mid-septal region, and the postablation emergence of a late P1 with decremental properties, is consistent with the left septal fascicle being the slowly conducting, retrograde limb of the left posterior FVT circuit. Ablation targeting the mid-septal left septal fascicle and P1 to P2 connection sites successfully eliminated left posterior FVT. Right ventricular apical pacing was useful in differentiating bundle branch reentry and focal FVTs from reentrant FVTs. Two cases exhibited bundle branch reentry and other interfascicular FVTs. Three cases were postinfarct FVTs involving the LPF, where pacing and entrainment at sites of conduction system potentials were able to localize sites critical for ablation, in contrast to previously unsuccessful substrate modification. In conclusion, several ventricular tachycardia mechanisms involving the fascicular system can occur in both structurally normal and abnormal hearts. A high index of suspicion is required given their rarity and potential for misdiagnosis. Once identified, we emphasize a structured approach to the diagnosis and management of FVTs to confirm the mechanism and localize suitable ablation targets involving careful recording of conduction system potentials and pacing/entrainment maneuvers.

Recent advances in autoimmune encephalitis.

Since the description of autoimmune encephalitis (AE) associated with N-methyl-D-aspartate receptor antibodies (anti-NMDARE) in 2007, more than 12 other clinical syndromes and antibodies have been reported. In this article, we review recent advances in pathophysiology, genetics, diagnosis pitfalls, and clinical phenotypes of AE associated with cell surface antibodies and anti-GAD associated neurological syndromes. Genetic studies reported human leukocyte antigen (HLA) associations for anti-LGI1, anti-Caspr2, anti-IgLON5, and anti-GAD. Follow-up studies characterized cognitive dysfunction, psychiatric symptoms, sleep disorders, and adaptative behavior dysfunction, mainly for anti-NMDARE. Late-onset anti-NMDARE and anti- GABA-B receptor (GABA-BR) encephalitis patients were described to have worse prognoses and different tumor associations. Additionally, the clinical spectrum of anti-LGI1, anti-AMPAR, anti-CASPR2, and anti-IgLON5 was expanded, comprising new differential diagnoses. The diagnostic criteria for AE were adapted to the pediatric population, and a diagnostic algorithm was proposed, considering potential mimics and misdiagnosis. We also review the limitations of commercial assays for AE and treatment recommendations, as well as clinical scales for short and long-term assessment of AE patients, along with cognitive evaluation.

Separating Infectious Proctitis from Inflammatory Bowel Disease-A Common Clinical Conundrum.

Proctitis refers to inflammation in the rectum and may result in rectal bleeding, discharge, urgency, tenesmus, and lower abdominal pain. It is a common presentation, particularly in genitourinary medicine and gastroenterology, as the two most common causes are sexually transmitted infections and inflammatory bowel disease. The incidence of infective proctitis is rising, particularly amongst high-risk groups, including men who have sex with men, those with HIV seropositive status, and those participating in high-risk sexual behaviours. The most commonly isolated organisms are Neisseria gonorrhoeae, Chlamydia trachomatis, Treponema palladium, herpes simplex virus, and Mycoplasma genitalium. Recently, proctitis was also identified as a common feature during the Mpox outbreak. Distinguishing infective proctitis from inflammatory bowel disease remains a significant clinical challenge as there is significant overlap in the clinical presentation and their endoscopic and histological features. This review compares and highlights the distinguishing hallmarks of both inflammatory and infective causes of proctitis. It provides a practical guide to describe the key features that clinicians should focus on in both clinical and key diagnostic investigations to avoid potential misdiagnosis.

Symptoms of panic disorder may lead to a potential misdiagnosis as a cardiopulmonary disease, particularly in rural areas.

Madam, The hallmark of panic disorder is erratic, recurrent, sudden bouts of severe anxiety referred to as "panic attacks," which render patients fearful of having another episode. These episodes are accompanied by symptoms such as palpitations, shortness of breath, chest tightness, dizziness, choking, fainting, sweating, and neurological symptoms. A study in 2022 suggests that the prevalence of panic attacks is 13.2%, mostly among women, the unemployed, and low-income individuals. The high rate of misdiagnosis (85.6%) is an issue that needs to be addressed.1 Panic symptoms can resemble several serious medical disorders, making a differential diagnosis problematic. However, it could often be misdiagnosed as a cardiopulmonary illness. The main cause of this is the striking resemblance of the symptoms. For instance, clinical signs of paroxysmal supraventricular tachycardia and panic episodes may often be identical, such as palpitations, chest tightness, and dizziness. Differentiating between these entities can be challenging, particularly in cases where there is normal electrocardiographic data.2 Furthermore, the dyspnoea and hyperventilation linked to panic episodes could be mistaken for asthma since both conditions may often display normal spirometry results.3 More frequently the misdiagnosis cases are reported from rural healthcare facilities due to lack of adequate trained medical staff and appropriate diagnostic equipment. The attending physician’s lack of expertise at the first point of interaction may also be contributory factor. In addition, the situation may become complicated by lack of necessary expertise needed assess the psychological components of panic attacks. The misdiagnosis could often results in severe negative consequences leading to unnecessary initiation of therapy thereby severely straining already scarce healthcare resources which could also be detrimental to patient’s health. Without proper psychological care, patients' panic episodes persist, making them more anxious. Studies indicate that panic disorder is linked to a decline in quality of life, a higher chance of smoking, and an increased risk of suicidal intentions.4 Therefore, it is critical to organise workshops for the physicians in rural Pakistan on recognising the undiagnosed panic disorder. Such educational sessions should be focusing on recognising the unique signs and symptoms of panic disorder, differentiating it from cardiopulmonary conditions. Moreover, it is essential to expand rural residents' accessibility to psychological care and develop public health initiatives that promote understanding of panic attacks, which can also lessen the stigma attached to mental disorders and assist patients in accessing the right care.

A rare case report of omental synovial sarcoma complicated hemoperitoneum and literature review

BackgroundSynovial sarcoma is a rare malignant soft tissue tumor originating mainly in the extremities and usually related to the joint capsule, tendon sheath, or synovial capsule. Only a few cases of synovial sarcoma arising in the abdomen, particularly the omentum, have been reported. We presented a case of omental synovial sarcoma and reviewed 7 cases of this disease.Case presentationA 37-year-old man presented to the hospital with abdominal pain and distension for 2 months. A computed tomography scan revealed a massive heterogeneous low attenuation mass with amorphous solid components between the stomach and colon with suspected hemoperitoneum. The patient underwent surgery, and the pathological result demonstrated a greater omentum biphasic synovial sarcoma. Chemotherapy was administered with a good response. He has no signs of recurrence during 3 years of follow-up. Among 7 cases of omental synovial sarcoma, the mean age was 42, ranging from 16 to 66 years old with predominantly female (71.4%), tumor size from 9.5 cm to 20 cm. Biphasic synovial sarcoma accounted for 50%. The recurrence rate within one year is high (57.1%).ConclusionsPrimary omental synovial sarcoma is uncommon and presents with nonspecific clinical symptoms, often leading to potential misdiagnosis with other conditions before surgery. They occur predominantly in females, mainly middle-aged, with a large mass size before presentation. Due to the high recurrence and mortality rate, it needs to be recognized at the early stage.

Abstract 193: Angiograms to assess brain death versus pentobarbital coma mimic in severe traumatic brain injury.

Introduction We hypothesized that computed tomography angiography and conventional catheter‐guided angiography (CTA & DSA) would be able to accurately distinguish prolonged total areflexic coma induced by pentobarbital (PTB) from true progression to death by neurologic criteria (DNC) in patients with traumatic brain injuries (TBI) undergoing aggressive intracranial pressure (ICP) management. We also hypothesized that despite CTA being an imperfect tool in other cases of traumatic brain injury mimicking brain death, CTA helps triage which patients would benefit from resource‐intensive DSA as a part of their DNC evaluation. Methods We present a retrospective case series of three patients with severe TBI, treated with PTB coma as part of refractory ICP treatment. Patients displayed clinical and electroencephalographic findings that mimicked DNC. These clinical cases highlight the contributions of adjunct therapies ‐ propofol, midazolam, fentanyl, paralytics and therapeutic temperature management (TTM) ‐ and their exacerbating effects of PTB resulting in brainstem areflexia. In these cases, transcranial doppler (TCD) was used in addition to CTA to determine DNC. We also present a retrospective case series of three false negative CTAs in open or closed skull injuries undergoing DNC evaluation. Results This case series highlights the challenge in clinical decision‐making when managing severe TBI with high‐dose PTB. These victims have prolonged sedation from PTB enhanced by adjunctive therapies on top of the TBI‐related coma, resulting in total areflexic coma. They are also at risk of truly progressing to DNC from herniation or brainstem ischemia despite neurocritical care. Our findings suggest that imaging is key to distinguish true progression to DNC versus areflexic mimic. We used TCD to screen for abolished perfusion which then suggested the need for CTA to demonstrate cerebral circulatory arrest (CCA). We escalated to DSA as a formally accepted BDAT per the 2023 AAN guidelines. Other options for BDAT such as SPECT and EEG are less well suited in this TBI population with PTB coma. Conclusions: This study reaffirms the limitations of TCD and CTAs, especially in open skull cases, but their useful role for stewardship towards the proper and judicious choice of a brain death ancillary test (BDAT). The differentiation of a PTB‐induced coma from DNC in TBI patients is intricate and CCA needs to be sought precisely and absolutely to guide care. This study underscores the importance of understanding progression on imaging and the role for screening with TCD and CTA. The 2023 AAN guidelines on DNC posit DSA as the sole acceptable BDAT in these cases. We recommend serial TCD monitoring and deliberate reassessment post‐PTB washout to navigate potential misdiagnosis of DNC. In cases with unrealistic waiting periods, CTA followed by DSA, both with a focus on the brainstem and with venous scrutiny using French scoring systems, seems most appropriate. Our insights seek to inform clinical practice and guard against premature cessation or undue prolongation of aggressive care. We propose to study the difference between CTA and DSA with a brainstem venous focus, as DSA remains resource‐intensive and more dangerous for fragile ICU patients.

Survey on Adversarial Attack and Defense for Medical Image Analysis: Methods and Challenges

Deep learning techniques have achieved superior performance in computer-aided medical image analysis, yet they are still vulnerable to imperceptible adversarial attacks, resulting in potential misdiagnosis in clinical practice. Oppositely, recent years have also witnessed remarkable progress in defense against these tailored adversarial examples in deep medical diagnosis systems. In this exposition, we present a comprehensive survey on recent advances in adversarial attacks and defenses for medical image analysis with a systematic taxonomy in terms of the application scenario. We also provide a unified framework for different types of adversarial attack and defense methods in the context of medical image analysis. For a fair comparison, we establish a new benchmark for adversarially robust medical diagnosis models obtained by adversarial training under various scenarios. To the best of our knowledge, this is the first survey paper that provides a thorough evaluation of adversarially robust medical diagnosis models. By analyzing qualitative and quantitative results, we conclude this survey with a detailed discussion of current challenges for adversarial attack and defense in medical image analysis systems to shed light on future research directions. Code is available on GitHub.

Exploring the clinicopathological characteristics of submucosal tumor-like esophageal squamous cell carcinoma and the diagnostic significance of endoscopic ultrasound: a comprehensive analysis.

Completely intramural growth submucosal squamous cell carcinoma of the esophagus, also known as SMT-like esophageal squamous cell carcinoma (ESCC), represents a rare and distinct form of esophageal cancer. Its white light endoscopic manifestations resemble those of esophageal subepithelial lesions, and biopsy pathology is often negative, leading to potential oversight or misdiagnosis. This study aimed to comprehensively summarize the clinicopathological and endoscopic ultrasound (EUS) characteristics of patients with SMT-like ESCC while also evaluating the immunohistochemical expression of these patient. This study collected clinical data, including demographic and clinicopathological data, as well as EUS findings, from six patients with SMT-like ESCC. Immunohistochemical analysis was also conducted on tumor tissues to assess the expression of CK7, CK19, CK20, TTF-1, SMA, S-100, Melan-A, CD117, Mucin (MUC) 2, and MUC5. In EUS, SMT-like ESCC is characterized by nonuniform hypoechoic lesions with indistinct borders, often exhibiting a burr or serrated appearance. Most of these lesions involved multiple levels. Cytological specimens obtained through EUS-guided fine needle aspiration (EUS-FNA) revealed suspected squamous cell carcinoma with positive expression of CK5/6, P40, and P63, further confirming the diagnosis of ESCC. Additionally, four patients exhibited CK7+/CK20- immune-expression profiles, and all patients had positive CK19 expression. TTF-1, SMA, S-100, Melan-A, CD117, MUC2, and MUC5 were negative. Combining EUS with EUS-FNA is a valuable approach for diagnosing and differentiating SMT-like ESCC. Furthermore, the characteristic CK7+/CK20- immune profile suggested a potential origin from the esophageal submucosa glands.

Breast relapse of myeloid sarcoma and SARS-CoV-2 infection following hematopoietic stem cell transplantation in mixed-phenotype acute leukemia: a case report

Abstract Background Mixed-phenotype acute leukemia is a rare, high-risk subtype of acute leukemia. Myeloid sarcoma is a localized tumor formed by the proliferation and infiltration of primitive or immature myeloid cells outside the bone marrow. It is often an extramedullary manifestation of acute myeloid leukemia, and imaging lacks specificity, leading to potential misdiagnosis. Case Presentation A female patient diagnosed with mixed-phenotype acute leukemia achieved complete remission after chemotherapy and allogeneic hematopoietic stem cell transplantation. However, a relapse occurred in the breast after transplantation. The patient achieved local control through mastectomy and removal of the axillary lymph nodes on the affected side. Unfortunately, during the subsequent course of chemotherapy, the patient died of a severe pulmonary infection caused by coronavirus disease 2019. Conclusion Continuous treatment and monitoring of mixed-phenotype acute leukemia patients are essential, especially for those with extramedullary manifestations (such as breast involvement).

Gelatinous transformation of bone marrow associated with ring sideroblasts: A diagnostic pitfall

Gelatinous bone marrow transformation (GBMT) is a rare condition characterized by adipocyte atrophy, deposition of extracellular gelatinous substance in the bone marrow and associated hypoplastic hematopoiesis. The underlying pathogenic mechanisms of GBMT remain poorly understood. Here we describe 3 cases of GBMT associated with ring sideroblasts. An electronic search of institutional archives was conducted via the laboratory information system to identify patients with a body mass index (BMI) of <18.5 who underwent bone marrow evaluation. The slides and reports for these bone marrow specimens were reviewed. Bone marrow specimens of 10 patients were identified and reviewed. Three (30 %) were found to have GBMT and ring sideroblasts, ranging from 2 to 20 %. Blasts were not increased and there was no other morphologic evidence of dysplasia. Every patient had one or more peripheral blood cytopenias. In one patient, copper deficiency was proven providing an explanation for the ring sideroblasts. To the best of our knowledge, ring sideroblasts have not been well documented in GBMT and aims to contribute to a better understanding of disease recognition and pathogenesis and also to prevent potential misdiagnosis as a myelodysplastic syndrome.

Real-world analysis of neuroendocrine tumor misdiagnosis and associated costs

PurposeConditions for which neuroendocrine tumor (NET) is commonly misdiagnosed were compared among patients with and without NET, and the associated healthcare costs were described. MethodsAdults with a NET diagnosis were selected retrospectively from the IBM MarketScan claims databases during 1/1/2015–12/31/2018 (earliest = index), comprising the NET cases. Non-NET controls included age/gender matched patients without any cancer diagnoses. Patients were followed for a five year look back period when conditions for which NET is commonly misdiagnosed (gastrointestinal, respiratory, metabolic [i.e. liver disease], dermatologic) were measured and compared between cases and matched controls using odds ratios. Misdiagnosis-related costs were reported per patient per month (PPPM) from the earliest misdiagnosis to NET diagnosis. Patients with pancreatic adenocarcinoma misdiagnoses and related costs were reported separately. ResultsThis analysis included 3460 NET cases and 10,370 non-NET controls (mean age 61 years). Compared to non-NET controls, 70 % of NET cases had a diagnosis of a gastrointestinal, respiratory, metabolic, or dermatologic condition, with 2.07 higher odds (95 % CI 1.91–2.25). Median time from earliest potential misdiagnosis to NET was 3.4 years. Overall mean (standard deviation) healthcare costs related to misdiagnoses were $2858 ($6495) PPPM. Costs were highest for gastrointestinal misdiagnoses ($3350 [$7108]). Among NET cases, 69 (2 %) patients had a pancreatic adenocarcinoma misdiagnosis; related PPPM costs were substantial ($29,321 [$62,385]) and driven by outpatient services including treatment administration. ConclusionThe increased odds of common misdiagnosis conditions among NET cases compared with non-NET controls, contributing to unnecessary healthcare costs, supports the need for accurate identification of NET. SynopsisThe majority of patients with NET (70 %) were previously misdiagnosed, occurring a median of 3.4 years before correct diagnosis. Total mean healthcare costs related to misdiagnoses were $2858 PPPM and costs related to pancreatic adenocarcinoma misdiagnoses were substantial ($29,321 PPPM).

Metastatic Melanoma of Unknown Primary with Plasmacytoid Morphology Presenting as Acute Liver Failure

Abstract Introduction/Objective Viral hepatitis, drug toxicity, and autoimmune disorders are common etiologies of acute liver failure (ALF). Very rarely, a cause like metastatic melanoma may present as a primary driver of ALF. Malignant melanoma is histologically diverse and plasmacytoid melanoma is an unusual variant that may present as a solitary tumor or metastatic disease. Methods/Case Report A 48-year-old female presented with 2 weeks of right upper quadrant pain, nausea, coffee ground emesis and bleeding per rectum. She had no history of liver disease or alcohol use. On presentation, AST was 83 U/L, ALT was 29U/L, ALP was 159U/L and total bilirubin was 12.7g/dl. Viral hepatitis panel, HIV and chronic liver disease workup was negative. Esophagogastroduodenoscopy and colonoscopy showed no sources of bleeding. She was diagnosed with decompensated cirrhosis, ALF, and acute kidney injury from hepatorenal syndrome. Cirrhosis and multifocal indeterminate T1 hyper/T2 hypo intense lesions (dysplastic or regenerative nodules) were seen on MRI. Liver biopsy revealed metastatic melanoma. Almost entire liver parenchyma on biopsy was replaced by a population of neoplastic cells with plasmacytoid features. Immunostaining was positive for MART-1, HMB45 and SOX-10. Staining for Pan Cytokeratin and CK-7 highlighted the bile ducts and negative staining was seen for CK20, CD3, CD20, PAX-8, GATA-3, CDX-2 and P63. No primary lesion was found. It was deemed unlikely that she would benefit from therapy before complications occur. She passed away in 16 days. Results (if a Case Study enter NA) NA Conclusion In most cases of ALF associated with malignant melanoma, the liver may have a seemingly normal appearance on imaging studies due to the distinctive histology of leukemoid tumor infiltration within the liver sinusoids, resulting in sinusoidal obstruction and subsequent hepatocellular dysfunction. The rapidity of liver failure in these cases is related to the replacement of liver parenchyma by malignant cells. The plasmacytoid morphology is seen in a variety of malignancies and to avoid a potential misdiagnosis of an aggressive malignant melanoma, it is imperative to perform a thorough histopathological evaluation aided with immunohistochemistry. It is important to keep in mind that the potential involvement of malignant tumor cell infiltration may cause ALF and early histological assessment with a liver biopsy may be of paramount significance and may possibly change the course of the disease.

A rapid diagnostic technique based on metabolomics to differentiate between preeclampsia (PE) and chronic kidney disease (CKD) using maternal urine

Similar clinical manifestations between preeclampsia and chronic kidney diseases can lead to potential misdiagnosis. Therefore, it is crucial to investigate effective diagnostic approaches that can reduce misdiagnosis and ensure the well-being of pregnant women. In this study, urine samples collected from 44 individuals with preeclampsia, 37 individuals with chronic kidney disease, and 37 healthy pregnant women were analyzed using metabolomic and proteomic strategies to distinguish between these two diseases. A total of 15 small molecules were tentatively identified as biomarkers to differentiate these two diseases, including potential internally exposed drugs and their metabolites like labetalol and SN-38, metabolites of exogenous substances like 3-phenylpropyl glucosinolate, and endogenous substances related to metabolism such as isoglobotriaose and chitobiose. Metabolic differences between preeclampsia from healthy pregnant women, as well as the differences between chronic kidney disease and healthy pregnant women were also investigated. Major mechanistic pathways were investigated based on the combination of metabolomic and proteomic, amino acid metabolisms and folate metabolism play key roles in distinguishing preeclampsia and chronic kidney disease. Two patients who were initially diagnosed with chronic kidney disease were found to have a closer association with preeclampsia following metabolomic analysis. Subsequent clinical symptoms and manifestations further supported the diagnosis of preeclampsia, and one of patient's pregnancy was ultimately terminated due to severe preeclampsia. Results of this study contribute to a better understanding of the pathogenesis and clinical diagnosis of preeclampsia, offering insights that could potentially improve future diagnostic and management approaches.

8637 Pituicytoma mimicking Craniopharyngioma

Abstract Disclosure: O. Araoye: None. T. Delibasi: None. A. Chaugule: None. S.K. Dhillon: None. C. Fuller: None. Pituicytoma, a rare low-grade glial tumor originating from the neurohypophysis or infundibulum of the pituitary gland, poses diagnostic challenges due to its propensity to mimic other sellar or suprasellar lesions. We present a case of a 51-year-old male with a history of a suprasellar mass initially suggested to be a craniopharyngioma, incidentally discovered. Opting for elective surgery, the patient underwent transsphenoidal resection, revealing a highly vascular tumor adherent to the optic chiasm and pituitary stalk. While the tumor was successfully removed, sacrifice of the pituitary stalk led to postoperative complications, including cerebrospinal fluid (CSF) leak and central diabetes insipidus (DI).Histopathological examination characterized the tumor as oncocytic pituicytoma/spindle cell oncocytoma, a subtype of pituicytoma. The anti-mitochondrial antibody staining at an external laboratory displayed diffuse granular cytoplasmic staining supporting oncocystic pituicytoma/spindle cell oncocytoma.Postoperatively, the patient developed central DI treated initially with desmopressin (DDAVP), complicated by subsequent hyponatremia necessitating salt tablets and fluid restriction. Additionally, central adrenal insufficiency was managed with hydrocortisone, and central hypothyroidism with levothyroxine. A history of testosterone deficiency was addressed through testosterone injections every 10 weeks.Pituicytoma's diagnostic complexity arises from nonspecific radiological features, requiring reliance on histology and immunohistochemistry for definitive diagnosis. The expression of TTF1 emerges as a characteristic marker. Surgical resection, the primary treatment modality, proves curative in most cases, albeit with associated morbidity including CSF leak, DI, and panhypopituitarism. The role of adjuvant radiotherapy remains uncertain, potentially considered in cases of incomplete resection or recurrence.This case emphasizes three key aspects: first, the potential misdiagnosis of a lobulated suprasellar mass as craniopharyngioma when it could be pituicytoma; second, the development of postoperative DI due to pituitary stalk involvement; and third, the importance of considering pituicytoma in the differential diagnosis of sellar and suprasellar masses.In conclusion, pituicytoma, though rare, demands a nuanced diagnostic approach and comprehensive postoperative management to address potential complications and optimize patient outcomes. Presentation: 6/2/2024

A fine-grained image classification algorithm based on self-supervised learning and multi-feature fusion of blood cells

Leukemia is a prevalent and widespread blood disease, and its early diagnosis is crucial for effective patient treatment. Diagnosing leukemia types heavily relies on pathologists’ morphological examination of blood cell images. However, this process is tedious and time-consuming, and the diagnostic results are subjective, leading to potential misdiagnosis and underdiagnosis. This paper proposes a blood cell image classification method that combines MAE with an enhanced Vision Transformer to tackle these challenges. Initially, pre-training occurs on two datasets, TMAMD and Red4, using the MAE self-supervised learning algorithm. Subsequently, the pre-training weights are transferred to our improved model.This paper introduces feature fusion of the outputs from each layer of the Transformer encoder to maximize the utilization of features extracted from lower layers, such as color, contour, and texture of blood cells, along with deeper semantic features. Furthermore, the dynamic margins for the subcenter Arcface Loss function are employed to enhance the model’s fine-grained feature representation by achieving inter-class dispersion and intra-class aggregation. Models trained using our method achieved state-of-the-art results on both the TMAMD dataset and Red4 dataset, with classification accuracies of 93.51% and 81.41%, respectively. This achievement is expected to be a valuable reference for physicians in their clinical diagnoses.

B-320 Understanding CA 72-4: Exploring False Positives in Clinical Context

Abstract Background CA 72-4, initially identified in 1981 as an antigen reactive to murine antibodies, is a glycoprotein expressed on the cell surface of certain carcinoma cells. Its production is elevated in various cancers, including ovarian, pancreatic, colorectal, and gastric cancer. However, CA 72-4 serum concentration may rise in non-cancerous conditions, leading to potential misdiagnosis and a low positive predictive value (PPV), particularly in asymptomatic patients. Our aim in this study was to describe CA 72-4 false positive values and assess the pathological conditions and pharmacological treatments associated with this. We also intended to compare other tumour markers status in false and true positive results of CA 72-4. Methods A retrospective analysis form pseudo-anonymized database was conducted using data from 1290 laboratory analysis from different patients taking a blood test at our laboratory hospital from 2017 to 2019. CA 72-4 and other tumour markers were analysed by ECLIA (Roche Diagnostics Gmbh. Mannheim, Germany). Results Among 1290 CA 72-4 laboratory tests in different patients, 204 were considered positive because they were above the reference interval (&amp;lt;7 U/mL). Within this subgroup, 44 of the 204 were clearly classified as false positives, as patients were not diagnosed with any form of neoplastic process. 45% of cases were between 7-14 U/mL (group 1), 30% were between 14-28 U/mL (group 2), and finally 25% of patients were above 28 U/mL ranging from 35.1 to 240.4 U/mL (group 3). Interestingly, CA19-9, CA 125 and CEA were measured in 37 of the false positive cases and it was found that 59.5% had at least another tumour marker above the reference range. In 103 true positive cases it was found that 88% of patients had at least one tumour marker above the normal range. Patients exhibiting false positive results for CA 72-4 demonstrated a wide spectrum of pathological conditions, with pulmonary disease, inflammation, infection, and heart and kidney disease emerging as the most prevalent. Group 1 patients most common underlying pathologies were pulmonary disease in 25%, heart disease in 25% and either viral or bacterial infection in 60% of patients. Group 2 patients most common pathologies were heart disease in 42%, pulmonary disease in 33% and infection in 25% of patients. In group 3 patients, renal disease was present in 45% of patients, heart disease was found in 45% of patients and inflammation/sepsis was found in 36% of patients. When looking into pharmacological treatment, 86.3% of patients were taking at least one of previously described treatments increasing CA 72-4 in serum; proton pump inhibitors, corticosteroids, antiplatelet drugs and colchicine. Drug treatment proportion was very similar across the different groups. Conclusions CA72-4 false positive cases are sometimes in conjunction with other false positive tumour markers but not in the same proportion as true positives. In addition, most false positive patients can be explained by pharmacological treatments. This research may help in the understanding and identification of potential factors influencing tumor marker levels and thus contribute to the interpretation of results.

Allergic contact dermatitis of the scalp: a review of an underdiagnosed entity.

It is hypothesized that scalp allergic contact dermatitis (ACD) in women is commonly mistaken for other disorders due to overlapping symptoms and unique clinical presentations. This study reviews the potential underdiagnosis and misdiagnosis of scalp ACD and explores ways to improve diagnostic accuracy. This study conducted an extensive literature review to identify diagnostic challenges, common misdiagnoses, and diagnostic approaches for scalp ACD, focusing on standard versus targeted patch testing techniques. Scalp ACD, often misdiagnosed as seborrheic dermatitis due to similar symptoms, has atypical presentations such as hair thinning, hair loss, and erythematous lesions affecting neighboring regions. Trichoscopy can help distinguish scalp ACD, identifying its patchy distribution of thin white scales, in contrast to the yellow scaling of seborrheic dermatitis. Standardized patch testing further contributes to diagnostic errors, with a study reporting 83% of patients who tested negative with standardized patch tests were positive when using their personal products. Individualized patch testing is more effective in identifying causative allergens and accurately diagnosing scalp ACD. It is a retrospective review. Several factors contribute to scalp ACD's misdiagnosis for conditions such as seborrheic dermatitis. The significant discrepancy in ACD detection rates between personalized and standardized patch tests in women emphasizes the importance of using patient-specific products in diagnostic testing. Incorporating scalp ACD more readily into one's differential, employing individualized patch testing with trichoscopy, and accounting for neighboring symptomatic areas are all crucial elements in improving diagnostic accuracy for scalp ACD in women.