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Introduction: Primary extrapulmonary small cell carcinoma (EPSCC) is a rare and aggressive tumor with diverse clinical manifestations. In the realm of head and neck pathology, EPSCC most commonly presents in the larynx or oral cavity. Sinonasal small cell neuroendocrine carcinoma represents a particularly infrequent and aggressive neoplasm affecting the nasal cavity and paranasal sinuses. Case Presentation: Here in, we are presenting a case of a 40-year-old nonsmoking male with left maxillary sinus EPSCC, demonstrating extensive local invasion and regional lymphadenopathy. The patient presented with nasal obstruction, ocular swelling, visual loss, and multiple neck swellings. Diagnosis was challenging, requiring a multidisciplinary approach and histopathological confirmation. Immunohistochemistry revealed positive cytokeratin AE1/AE3 and synaptophysin markers validating the diagnosis of small cell carcinoma. Conclusion: This case underscores the diagnostic complexities and highlights the importance of swift intervention and a multidisciplinary treatment approach for optimizing patient outcomes in rare and aggressive tumors like EPSCC. Early detection and prompt management are crucial in resource-limited settings to mitigate morbidity and mortality. [ABSTRACT FROM AUTHOR]

Background: Rosette-Forming Glioneuronal Tumors (RGNTs) are rare, typically benign central nervous system tumors primarily located in the fourth ventricle and pineal region. Despite being classified as WHO grade I with generally favorable prognoses, RGNTs present complexities in their molecular mechanisms, occasional malignant transformation, and epidemiological characteristics that require further investigation. Method: This study systematically reviews the existing literature to analyze the epidemiological patterns, MRI characteristics, pathological features, diagnostic challenges, and molecular mechanisms associated with RGNTs, aiming to provide a comprehensive theoretical foundation for clinical practice and future research. Results: Through an in-depth review of recent studies, key molecular mechanisms, including mutations in FGFR1, PIK3CA, TERT, and IDH1/2, are highlighted. Additionally, the challenges in accurate diagnosis and the potential for misdiagnosis are discussed, emphasizing the importance of thorough molecular analysis in clinical settings. The literature indicates that RGNTs predominantly affect young adults and adolescents, with a slight female predominance. MRI typically reveals mixed cystic–solid lesions, often accompanied by hydrocephalus. Pathologically, RGNTs are characterized by a combination of neuronal and glial components, with immunohistochemical staining showing positivity for Synaptophysin and GFAP. High frequencies of FGFR1 and PIK3CA mutations underscore the significance of these pathways in RGNT pathogenesis and progression. Although RGNTs generally exhibit low malignancy, the TERT mutations identified in some cases suggest a risk of malignant transformation. Conclusions: This study concludes that while current treatment strategies focus on surgical resection, integrating molecular diagnostics and targeted therapies may be essential for managing recurrent or refractory RGNTs. Future research should explore the impact of various gene mutations on tumor behavior and their correlation with clinical outcomes, to optimize individualized therapeutic strategies and improve patient survival and quality of life. [ABSTRACT FROM AUTHOR]

Neurocysticercosis (NCC), a parasitic infection of the central nervous system caused by the larval stage of Taenia solium, presents a diagnostic conundrum due to its rare and often nonspecific clinical manifestations. This paper aims to unravel the diagnostic mystery surrounding NCC, shedding light on its epidemiology, pathophysiology, clinical presentation, and the challenges encountered in its diagnosis. Despite being considered a rare disease, NCC is the leading cause of acquired epilepsy worldwide, underscoring its clinical significance. The complexity of NCC diagnosis lies in its diverse clinical presentations, which can range from headaches, dizziness, and seizures to more severe neurological cognitive deficits. This diversity often leads to misdiagnosis. Furthermore, the limitations of current diagnostic methods, including serological tests and neuroimaging, contribute to the diagnostic dilemma. This paper emphasises the need for improved diagnostic criteria and novel diagnostic tools to enable early and accurate detection of NCC. By enhancing our understanding of NCC, we can pave the way for better management strategies, ultimately improving patient outcomes in this under-recognised disease. [ABSTRACT FROM AUTHOR]

This case report describes a 47-year-old male presenting with headache, fever, and limb weakness, initially suggestive of meningoencephalitis. Despite comprehensive investigations, including cerebrospinal fluid (CSF) analysis and neuroimaging, infectious and autoimmune causes were ruled out. Magnetic resonance imaging (MRI) revealed multifocal hyperintensities in the brainstem, gangliocapsular regions, and bilateral cerebellar hemispheres, indicative of an inflammatory process. With a negative autoimmune profile and the absence of systemic symptoms, primary angiitis of the central nervous system (PACNS) was suspected. The patient was treated with high-dose intravenous corticosteroids followed by oral prednisone and azathioprine for long-term immunosuppression. Significant clinical improvement was observed, with resolution of headache fever, and marked improvement in limb strength and ocular symptoms. This case underscores the diagnostic complexity of CNS vasculitis, particularly when mimicking meningoencephalitis, and highlights the importance of considering CNS vasculitis as the differential diagnosis. Early recognition and aggressive immunosuppressive therapy are critical in managing this rare condition and preventing irreversible neurological damage. [ABSTRACT FROM AUTHOR]

Left ventricular (LV) pseudoaneurysms are uncommon, with traumatic cases being particularly rare. We present a case of a 26-year-old male with a delayed presentation of a traumatic LV pseudoaneurysm, 2 years post-blunt chest trauma. The patient experienced New York Heart Association (NYHA) grade 2 dyspnea, which prompted the investigation. Imaging studies, including X-ray, echocardiogram, and cardiac computed tomography (CT), revealed a large pseudoaneurysm arising from the LV apex, containing intramural thrombus. The surgical intervention involved the closure of the communicating orifice and on-lay pericardial patch placement. This case emphasizes the diagnostic challenges and successful management of traumatic LV pseudoaneurysms. Early detection through imaging and prompt surgical intervention led to a favorable outcome. This report contributes to understanding post-traumatic pseudoaneurysms and underscores the importance of a multidisciplinary approach in their management. Further studies are needed to refine diagnostic and treatment strategies for this rare condition. [ABSTRACT FROM AUTHOR]

Introduction: Primary extrapulmonary small cell carcinoma (EPSCC) is a rare and aggressive tumor with diverse clinical manifestations. In the realm of head and neck pathology, EPSCC most commonly presents in the larynx or oral cavity. Sinonasal small cell neuroendocrine carcinoma represents a particularly infrequent and aggressive neoplasm affecting the nasal cavity and paranasal sinuses. Case Presentation: Here in, we are presenting a case of a 40-year-old nonsmoking male with left maxillary sinus EPSCC, demonstrating extensive local invasion and regional lymphadenopathy. The patient presented with nasal obstruction, ocular swelling, visual loss, and multiple neck swellings. Diagnosis was challenging, requiring a multidisciplinary approach and histopathological confirmation. Immunohistochemistry revealed positive cytokeratin AE1/AE3 and synaptophysin markers validating the diagnosis of small cell carcinoma. Conclusion: This case underscores the diagnostic complexities and highlights the importance of swift intervention and a multidisciplinary treatment approach for optimizing patient outcomes in rare and aggressive tumors like EPSCC. Early detection and prompt management are crucial in resource-limited settings to mitigate morbidity and mortality.

Allergic bronchopulmonary aspergillosis (ABPA) presents diagnostic hurdles in pediatrics due to its resemblance to asthma or infections. An 11-year-old girl, known for recurrent asthma-related hospitalizations, presented with ongoing cough and breathing issues. Initial asthma treatment provided temporary relief, but her reliance on oxygen spurred further investigation. Radiological assessments initially suggested infection, confirmed as Klebsiella pneumonia, but antibiotic treatment proved insufficient. Elevated eosinophils, IgE levels, and specific IgE for Aspergillus fumigatus hinted at ABPA. Confirmation led to a successful three-month oral steroid course, combining therapies for effective management. Distinguishing ABPA from asthma and infections demands a thorough approach for timely identification and treatment in pediatric cases.

Dengue fever, which is caused by the dengue virus transmitted by Aedes mosquitoes, usually manifests as flu-like symptoms and is a prevalent tropical illness. However, there are rare cases where the infection takes an unusual course, resulting in severe complications like dengue encephalitis. This case report delineates an occurrence of dengue encephalitis in a patient from Sri Lanka. It provides insights into the clinical presentation, diagnostic difficulties, and treatment approaches linked to this uncommon manifestation of dengue fever.

Neurocysticercosis (NCC), a parasitic infection of the central nervous system caused by the larval stage of Taenia solium, presents a diagnostic conundrum due to its rare and often nonspecific clinical manifestations. This paper aims to unravel the diagnostic mystery surrounding NCC, shedding light on its epidemiology, pathophysiology, clinical presentation, and the challenges encountered in its diagnosis. Despite being considered a rare disease, NCC is the leading cause of acquired epilepsy worldwide, underscoring its clinical significance. The complexity of NCC diagnosis lies in its diverse clinical presentations, which can range from headaches, dizziness, and seizures to more severe neurological cognitive deficits. This diversity often leads to misdiagnosis. Furthermore, the limitations of current diagnostic methods, including serological tests and neuroimaging, contribute to the diagnostic dilemma. This paper emphasises the need for improved diagnostic criteria and novel diagnostic tools to enable early and accurate detection of NCC. By enhancing our understanding of NCC, we can pave the way for better management strategies, ultimately improving patient outcomes in this under-recognised disease.

Abstract Background This study aimed to explore the demographic characteristics, diagnostic challenges, treatment patterns, and caregiver burden of mitochondrial diseases. Methods This retrospective cross-sectional study enrolled patients diagnosed with mitochondrial diseases from the Department of Neurology at Peking University First Hospital between January 2010 and December 2021. A questionnaire covering demographic characteristics, diagnostic dilemma, treatment, economic aspects, and caregiver stress was administered, and disability was assessed using the modified Rankin Scale (mRS). Results A total of 183 patients (mean age: 16 (IQR: 12–25), 49.72% males) were enrolled, including 124 pediatric patients and 59 adult patients. MELAS (106. 57.92%) and Leigh syndrome (37, 20.22%) were predominant among the mitochondrial disease subtypes. Among them, 132 (72.13%) patients were initially misdiagnosed with other diseases, 58 (31.69%) patients visited 2 hospitals before confirmed as mitochondrial disease, and 39 (21.31%) patients visited 3 hospitals before confirmed as mitochondrial disease. Metabolic modifiers were the most common type of drugs used, including several dietary supplements such as L-carnitine (117, 63.93%), Coenzyme Q10 (102, 55.74%), idebenone (82, 44.81%), and vitamins (99, 54.10%) for proper mitochondrial function. Mothers are the primary caregivers for both children (36.29%) and adults (38.98%). The mRS score ranged from 0 to 5, 92.35% of the patients had different degrees of disability due to mitochondrial disease. The average monthly treatment cost was 3000 RMB for children and 3100 RMB for adults. Conclusions This study provided valuable insights into the characteristics and challenges of mitochondrial diseases, which underscores the need for improved awareness, diagnostic efficiency, and comprehensive support for patients and caregivers.

Hypersomnia, a disorder of sleep characterized by excessive quantity of sleep and excessive daytime sleepiness (EDS), could adversely affect health outcomes in childhood. To highlight diagnostic challenges and the impact of childhood hypersomnia in a resource limited setting, a 14 year old Nigerian who presented with a seven year history of hypersomnia was studied. Screening for sleep disorder using BEARS sleep algorithm and assessment for EDS using the Epworth Sleepiness Scale were both positive for EDS. The assessment of sleep hygiene using the Adolescent Sleep Hygiene Scale was normal and the use of Raven’s Progressive Matrices to assess intelligence was also normal. There was no contributory past medical history or demonstrable etiology. Magnetic Resonance Imaging (MRI) of the brain, Electro Encephalogram (EEG), assay of serum electrolytes were all normal while screening test for trypanosomiasis was negative. Poor level of awareness, high cost of evaluation and limited facilities for diagnosis of sleep disorder were the major diagnostic challenges. Depression, poor academic performance, suicidal ideation and stigmatization were all associated with hypersomnia in the patient.

Background: Spinal cord lymphomas represent a minority of extranodal lymphomas and often pose diagnostic challenges by imitating primary spinal tumors or inflammatory/infective lesions. This paper presents a unique case of primary cauda equina lymphoma (PCEL) and conducts a comprehensive review to delineate the clinical and radiological characteristics of this rare entity. Case Report: A 74-year-old male presented with progressive paresthesia, motor weakness, and symptoms indicative of cauda equina syndrome. Neurological examination revealed paraparesis and sphincter dysfunction. Imaging studies initially suggested an intradural meningioma. However, surgical intervention revealed a diffuse large B-cell lymphoma infiltrating the cauda equina. Findings: A systematic review of the pertinent literature identified 18 primary cauda equina lymphoma cases. These cases exhibited diverse clinical presentations, treatments, and outcomes. The mean age at diagnosis was 61.25 years for women and 50 years for men, with an average follow-up of 16.2 months. Notably, 35% of patients were alive at 18 months, highlighting the challenging prognosis associated with PCEL. Discussion: Primary spinal cord lymphomas, especially within the cauda equina, remain rare and diagnostically complex due to their nonspecific clinical manifestations. The review highlights the need to consider spinal cord lymphoma in patients with neurological symptoms, even without a history of systemic lymphoma. Diagnostic Approaches: Magnetic resonance imaging (MRI) serves as the primary diagnostic tool but lacks specificity. Histopathological examination remains the gold standard for definitive diagnosis. The review underscores the importance of timely biopsy in suspected cases to facilitate accurate diagnosis and appropriate management. Management and Prognosis: Current management involves biopsy and chemotherapy; however, optimal treatment strategies remain ambiguous due to the rarity of PCEL. Despite aggressive therapeutic interventions, prognosis remains poor, emphasizing the urgency for enhanced diagnostic and treatment modalities. Conclusions: Primary cauda equina lymphoma poses diagnostic and therapeutic challenges, necessitating a high index of suspicion in patients with atypical spinal cord symptoms. Collaborative efforts between neurosurgical, oncological, and infectious diseases teams are imperative for timely diagnosis and management. Advancements in diagnostic precision and therapeutic options are crucial for improving patient outcomes. [ABSTRACT FROM AUTHOR]

Background: This study aimed to explore the demographic characteristics, diagnostic challenges, treatment patterns, and caregiver burden of mitochondrial diseases. Methods: This retrospective cross-sectional study enrolled patients diagnosed with mitochondrial diseases from the Department of Neurology at Peking University First Hospital between January 2010 and December 2021. A questionnaire covering demographic characteristics, diagnostic dilemma, treatment, economic aspects, and caregiver stress was administered, and disability was assessed using the modified Rankin Scale (mRS). Results: A total of 183 patients (mean age: 16 (IQR: 12–25), 49.72% males) were enrolled, including 124 pediatric patients and 59 adult patients. MELAS (106. 57.92%) and Leigh syndrome (37, 20.22%) were predominant among the mitochondrial disease subtypes. Among them, 132 (72.13%) patients were initially misdiagnosed with other diseases, 58 (31.69%) patients visited 2 hospitals before confirmed as mitochondrial disease, and 39 (21.31%) patients visited 3 hospitals before confirmed as mitochondrial disease. Metabolic modifiers were the most common type of drugs used, including several dietary supplements such as L-carnitine (117, 63.93%), Coenzyme Q10 (102, 55.74%), idebenone (82, 44.81%), and vitamins (99, 54.10%) for proper mitochondrial function. Mothers are the primary caregivers for both children (36.29%) and adults (38.98%). The mRS score ranged from 0 to 5, 92.35% of the patients had different degrees of disability due to mitochondrial disease. The average monthly treatment cost was 3000 RMB for children and 3100 RMB for adults. Conclusions: This study provided valuable insights into the characteristics and challenges of mitochondrial diseases, which underscores the need for improved awareness, diagnostic efficiency, and comprehensive support for patients and caregivers. [ABSTRACT FROM AUTHOR]

Osteomyelitis (OM) is a major challenge in orthopedic surgery. The diagnosis of OM is based on imaging and laboratory tests, but it still presents some limitations. Therefore, a deeper comprehension of the pathogenetic mechanisms could enhance diagnostic and treatment approaches. OM pathogenesis is based on an inflammatory response to pathogen infection, leading to bone loss. The present study aims to investigate the potential diagnostic role of a panel of osteoimmunological serum biomarkers in the clinical approach to OM. The focus is on the emerging infection biomarker sCD14-ST, along with osteoimmunological and inflammatory serum biomarkers, to define a comprehensive biomarker panel for a multifaced approach to OM. The results, to our knowledge, demonstrate for the first time the diagnostic and early prognostic role of sCD14-ST in OM patients, suggesting that this biomarker could address the limitations of current laboratory tests, such as traditional inflammatory markers, in diagnosing OM. In addition, the study highlights a relevant diagnostic role of SuPAR, the chemokine CCL2, the anti-inflammatory cytokine IL-10, the Wnt inhibitors DKK-1 and Sclerostin, and the RANKL/OPG ratio. Moreover, CCL2 and SuPAR also exhibited early prognostic value. [ABSTRACT FROM AUTHOR]

Key Clinical Message: This is a challenging case where the surgeon has initially thought it is a gallbladder (GB) mucocele. The surprise finding of a mucocele during an emergency laparotomy highlights the deceptive nature of certain clinical manifestations within the hepatobiliary domain. The intraoperative discovery of a 1×1 cm GB hole on the right lateral wall of the GB fundus revealed an unexpected and significant deviation from the hypothesized pathogenesis. This case report provides a complicated diagnosis scenario for a hepatobiliary illness aggravated by schizophrenia. Arriving with frequent nausea and vomiting, a 70‐year‐old female patient with schizophrenia missed typical symptoms of gallbladder (GB) disease, including fever and stomach discomfort. This odd look and corroborative imaging showing a cystic lesion in the right belly led to a diagnostic suspicion of a sizable GB mucocele. But a surprising result from an emergency laparotomy revealed a significant GB perforation, different from the previous diagnosis. This case highlights the difficulties in identifying atypical GB diseases, particularly in individuals with mental comorbidities that could conceal or alter the expression of physical symptoms. To confirm or rule out differential diagnosis and allow early and tailored treatments, it emphasizes the need for thorough diagnostic tests, including a complete clinical history, physical examinations, laboratory analysis, imaging modalities, and surgical procedures. This case emphasizes the importance of careful examination in complex medical contexts by stressing the requirement of thorough assessments and comprehensive diagnostic frameworks in navigating challenging clinical situations. [ABSTRACT FROM AUTHOR]

Vector‐borne viruses pose a significant health problem worldwide, as they are transmitted to humans through the bite of infected arthropods such as mosquitoes and ticks. In recent years, emerging and re‐emerging vector‐borne diseases have gained attention as they can cause a wide spectrum of neurological manifestations. The neurological manifestations of vector‐borne viruses encompass a board spectrum of clinical manifestations, ranging from mild and self‐limiting symptoms to severe and life‐threatening conditions. Common neurological complications include viral encephalitis, acute flaccid paralysis, aseptic meningitis, and various neuromuscular disorders. The specific viruses responsible for these neurological sequelae vary by geographic region and include Orthoflavivirus nilense, Zika virus, dengue virus, chikungunya virus, Japanese encephalitis virus, and tick‐borne encephalitis virus. This review focuses on the pathogenesis of these neurologic complications and highlights the mechanisms by which vector‐borne viruses invade the central nervous system and trigger neuroinflammatory responses. Diagnostic challenges and strategies for early detection of neurological manifestations are discussed, emphasising the importance of clinical suspicion and advanced laboratory testing. [ABSTRACT FROM AUTHOR]

Background: Pilocytic astrocytoma (PCA) are commonly observed as slow-growing noncancerous brain tumors in pediatric populations, but they can also occur in adults, albeit rarely. When located in diencephalic regions, particularly in the hypothalamus, they present unique diagnostic and management challenges due to their rarity and overlapping clinical and radiological features with other intracranial pathologies. This systematic review aims to provide a comprehensive understanding of hypothalamic PCA in adults, focusing on their differential diagnosis, neurological presentation, diagnostic modalities, treatment strategies. A case illustration is also described in order to better underline all the difficulties related to the diagnostic process. Material and methods: A systematic literature search was conducted in the PubMed/MEDLINE, Embase, and Scopus databases up to November 2023 to identify studies. Results: The systematic literature search identified a total of 214 articles. Following screening by title and abstract and full-text review, 12 studies were deemed eligible and are included here. Conclusions: Adult-onset PCA in diencephalic regions pose diagnostic challenges due to their rarity and overlapping features with other intracranial lesions. Advanced imaging techniques play a crucial role in diagnosis, while surgery remains the cornerstone of treatment. Multidisciplinary collaboration is essential for the optimal management and long-term follow-up of these patients. [ABSTRACT FROM AUTHOR]

Triple-negative breast cancer (TNBC) poses significant challenges in oncology due to its aggressive nature, limited treatment options, and poorer prognosis compared to other breast cancer subtypes. This comprehensive review examines the therapeutic and diagnostic landscape of TNBC, highlighting current strategies, emerging therapies, and future directions. Targeted therapies, including PARP inhibitors, immune checkpoint inhibitors, and EGFR inhibitors, hold promise for personalized treatment approaches. Challenges in identifying novel targets, exploring combination therapies, and developing predictive biomarkers must be addressed to optimize targeted therapy in TNBC. Immunotherapy represents a transformative approach in TNBC treatment, yet challenges in biomarker identification, combination strategies, and overcoming resistance persist. Precision medicine approaches offer opportunities for tailored treatment based on tumor biology, but integration of multi-omics data and clinical implementation present challenges requiring innovative solutions. Despite these challenges, ongoing research efforts and collaborative initiatives offer hope for improving outcomes and advancing treatment strategies in TNBC. By addressing the complexities of TNBC biology and developing effective therapeutic approaches, personalized treatments can be realized, ultimately enhancing the lives of TNBC patients. Continued research, clinical trials, and interdisciplinary collaborations are essential for realizing this vision and making meaningful progress in TNBC management. [ABSTRACT FROM AUTHOR]

AbstractMurine typhus, a vector-borne illness transmitted by fleas and caused by Rickettsia typhi, presents significant public health challenges globally. Despite its impact, it often remains underrecognized in health systems. This disease is characterized by non-specific symptoms such as fever, rash, and severe complications in cases involving neurological or multi-organ involvement. The complexity of its clinical presentation frequently leads to misdiagnosis and underreporting, obscuring true transmission dynamics and impeding effective management. Highlighting the need for enhanced diagnostic methods, targeted public health interventions, and increased awareness, this review calls for a strategic focus to better understand and mitigate the influence of murine typhus on global health. [ABSTRACT FROM AUTHOR]

Abu-Bakarr Steven Kamara, Patrick Fatoma, Andrew Moseray Department of Public Health, School of Community Health Sciences, Njala University Bo Campus, Bo City, Sierra LeoneCorrespondence: Abu-Bakarr Steven Kamara, Department of Public Health, School of Community Health Sciences, Njala University Bo Campus, Bo City, Sierra Leone, Tel +23276201595, Email abskamara@njala.edu.slBackground: Lassa fever is a critical public health issue in Sierra Leone that demands appropriate health system responses and interventions to mitigate infections and reduce mortality.Methods: A qualitative study was conducted to delve into healthcare workers’ experiences with Lassa fever management and interventions across diverse healthcare settings in Sierra Leone, including the Eastern Province and Freetown’s Directorate of Health Security and Emergency (DHSE). Engaging ten key informants through purposive sampling, the study employed NVivo version 10 for a detailed thematic analysis using Query and Coding to systematically identify, classify, and organize key themes regarding knowledge, diagnostics, management roles, and community impact.Results: The findings indicate a well-informed healthcare workforce but highlight gaps in early detection, diagnostic accuracy, and procedural standardization. Concerns were raised about the potential overestimation of disease incidence due to improved diagnostics, suggesting a historical under-detection of Lassa fever. The analysis underscores the need for a multifaceted management approach, emphasizing international collaboration and culturally sensitive community engagement to effectively tackle the disease. A significant concern identified is the high mortality rate resulting from delayed referrals and communication challenges within the health system, leading to actionable recommendations for enhancing Lassa fever response strategies. The study’s thematic analysis provides a nuanced understanding of the challenges and areas for improvement, emphasizing the critical role of healthcare professionals in combating Lassa fever.Conclusion: Combating Lassa fever in Sierra Leone demands an integrative strategy that extends beyond medical interventions to encompass educational and infrastructural enhancements. This research pays homage to the commitment of healthcare professionals, underscoring the importance of sustained support and recognition of their essential contributions to advancing Lassa fever management and interventions.Keywords: Lassa fever, Sierra Leone, healthcare professionals, health system response, community engagement, diagnostic challenges, mortality, communication strategies

Abstract Hereditary angioedema (HAE) poses diagnostic challenges due to its episodic, non-specific symptoms and overlapping conditions. This study focuses on the genetic basis of HAE, particularly focusing on unresolved cases and those with normal C1-inhibitor levels (nC1-INH HAE). This study reveals that conventional testing identified pathogenic variants in only 10 patients (n = 32), emphasizing the necessity for an integrative approach using genome, exome, and transcriptome sequencing. Despite extensive genetic analyses, the diagnostic yield for nC1-INH HAE remains low in our study, the pathogenic variant for nC1-INH HAE was identified in only 1 patient (n = 21). Investigation into candidate genes yielded no pathogenic variants, prompting a re-evaluation of patients’ diagnoses. This study advocates for a nuanced approach to genetic testing, recognizing its limitations and emphasizing the need for continuous clinical assessment. The complex genetic landscape of nC1-INH HAE necessitates further research for a more comprehensive understanding. In conclusion, this study contributes valuable insights into the genetic intricacies of HAE, highlighting the challenges in diagnosis and the evolving nature of the disease. The findings underscore the importance of advanced sequencing techniques and an integrated diagnostic strategy in unravelling the complexities of HAE, particularly in nС1-INH HAE cases.

Urinary cytology serves as a vital diagnostic tool for urothelial carcinoma, offering a non-invasive screening method and guiding treatment decisions. The Paris System for Reporting Urinary Cytology (TPS) addresses historical challenges, providing a structured framework and enhancing diagnostic precision. The review explores the integration of artificial intelligence (AI) into urinary cytology, emphasizing its collaborative potential with TPS. A systematic literature review analyzes AI applications, revealing promising advancements but highlighting concerns about generalizability and overreliance on deep learning. The study underscores the importance of collaborative efforts for successful AI implementation, addressing challenges and ensuring seamless integration into clinical practice. While the synergy between TPS and AI shows promise, cautious consideration is necessary for widespread and reliable adoption, emphasizing ongoing refinement and validation. [ABSTRACT FROM AUTHOR]

Key Clinical Message: Hepatic micro‐abscesses can be a rare initial presentation of systemic lupus erythematosus (SLE). This case highlights the importance of considering autoimmune etiologies when infectious causes are ruled out and emphasizes the need for early recognition and appropriate treatment of atypical hepatic manifestations in SLE to achieve favorable outcomes. Systemic lupus erythematosus (SLE) is an autoimmune disease that affects multiple organs, including the liver. While hepatic involvement in SLE is typically subclinical or associated with mild liver enzyme elevations, rare manifestations such as hepatic micro‐abscesses and hepatic vasculitis have been reported. We report the case of a 27‐year‐old female who presented with persistent high‐grade fever, bilateral exudative lymphocytic pleural effusion, hepatic micro‐abscesses, anemia, and lymphopenia. Despite extensive investigations and antibiotic therapy, the patient's condition continued to worsen. The diagnosis of hepatic vasculitis, a rare manifestation of SLE, was ultimately made based on clinical suspicion, positive autoimmune markers, and negative septic workup. The patient responded well to high‐dose corticosteroid therapy and intravenous immunoglobulin, with resolution of liver lesions and clinical improvement. Hepatic involvement in SLE is diverse, and atypical presentations can pose diagnostic challenges. Hepatic vasculitis, although rare, should be considered in SLE patients presenting with liver lesions. The management involves immunosuppressive therapy, and prompt diagnosis is crucial to prevent further vascular damage. Hepatic micro‐abscesses, another rare manifestation of SLE, are thought to result from immune complex deposition. The exact pathogenesis remains unclear. Hepatic micro‐abscesses can have both infectious and non‐infectious causes, and it is very important to rule out common microbial pathogens. Treatment focuses on managing the underlying SLE activity with immunosuppressive agents. This case highlights the diagnostic challenges and management considerations in atypical hepatic manifestations of SLE. Awareness of rare presentations and collaboration among multiple specialties are essential for accurate diagnosis and appropriate treatment. [ABSTRACT FROM AUTHOR]

Key Clinical Message: Meningiomas present diverse clinical and radiological characteristics, with cystic formations constituting a lesser subset but posing significant diagnostic hurdles. We explore the complexities of cystic meningiomas through a distinctive case, highlighting the challenges in diagnosis and management due to their variable presentations. A 54‐year‐old female from Bengaluru, Karnataka, initially presented with transient memory disturbances. Brain MRI revealed a sizable left frontal cystic lesion exerting a mass effect and midline shift. However, rapid neurological decline led to an urgent surgical intervention via decompressive craniectomy unveiling unique intraoperative findings and with subsequent histopathological documentation of a Grade WHO 1 cystic meningioma. Cystic meningiomas present intricate diagnostic challenges resembling other intracranial lesions. Various classification systems attempt to categorize these tumors based on their imaging and histopathological characteristics. Despite this, atypical clinical manifestations often lead to misdiagnoses, necessitating a comprehensive approach to differential diagnosis. Further research is crucial to unravel the mechanisms underlying these tumors' cystic changes for improved diagnostic accuracy and tailored therapeutic interventions. [ABSTRACT FROM AUTHOR]

Hereditary angioedema (HAE) poses diagnostic challenges due to its episodic, non-specific symptoms and overlapping conditions. This study focuses on the genetic basis of HAE, particularly focusing on unresolved cases and those with normal C1-inhibitor levels (nC1-INH HAE). This study reveals that conventional testing identified pathogenic variants in only 10 patients (n = 32), emphasizing the necessity for an integrative approach using genome, exome, and transcriptome sequencing. Despite extensive genetic analyses, the diagnostic yield for nC1-INH HAE remains low in our study, the pathogenic variant for nC1-INH HAE was identified in only 1 patient (n = 21). Investigation into candidate genes yielded no pathogenic variants, prompting a re-evaluation of patients' diagnoses. This study advocates for a nuanced approach to genetic testing, recognizing its limitations and emphasizing the need for continuous clinical assessment. The complex genetic landscape of nC1-INH HAE necessitates further research for a more comprehensive understanding. In conclusion, this study contributes valuable insights into the genetic intricacies of HAE, highlighting the challenges in diagnosis and the evolving nature of the disease. The findings underscore the importance of advanced sequencing techniques and an integrated diagnostic strategy in unravelling the complexities of HAE, particularly in nС1-INH HAE cases. [ABSTRACT FROM AUTHOR]

Background Hypertrophic cardiomyopathy (HCM) is often linked to systolic anterior motion (SAM) of the mitral valve, typically resulting in a posteriorly directed mitral regurgitation (MR) jet. An anteriorly directed MR jet suggests additional mitral valve pathology that may not be resolved by myectomy alone. Case summary A 58-year-old construction worker with no significant medical history experienced a syncopal event and was admitted to the emergency department with acute pulmonary oedema. A systolic murmur was investigated with a trans-thoracic echocardiogram that revealed severe MR with an unusual anteriorly directed MR jet and a possible flail segment of the posterior leaflet. This finding was further characterized with a trans-oesophageal echocardiogram that revealed severe asymmetric septal hypertrophy with SAM of the mitral valve, severe mitral regurgitation into a dilated left atrium with pulmonary vein flow reversal not caused by HCM-associated SAM, and a markedly abnormal mitral valve with flail and prolapse. The patient underwent successful cardiac surgery, including mitral valve repair and septal myectomy. The patient's recovery was uneventful, allowing for a return to work within a month post-surgery. Discussion The anteriorly directed MR jet served as a red flag, leading to the discovery of an independent mitral valve pathology that required surgical intervention beyond the expected treatment for SAM-associated HCM. This case highlights the complexity of assessing MR in patients with HCM and underscores the importance of characterizing MR jet direction in diagnosing additional mitral valve diseases. [ABSTRACT FROM AUTHOR]

Key Clinical Message This is a challenging case where the surgeon has initially thought it is a gallbladder (GB) mucocele. The surprise finding of a mucocele during an emergency laparotomy highlights the deceptive nature of certain clinical manifestations within the hepatobiliary domain. The intraoperative discovery of a 1×1 cm GB hole on the right lateral wall of the GB fundus revealed an unexpected and significant deviation from the hypothesized pathogenesis. Abstract This case report provides a complicated diagnosis scenario for a hepatobiliary illness aggravated by schizophrenia. Arriving with frequent nausea and vomiting, a 70‐year‐old female patient with schizophrenia missed typical symptoms of gallbladder (GB) disease, including fever and stomach discomfort. This odd look and corroborative imaging showing a cystic lesion in the right belly led to a diagnostic suspicion of a sizable GB mucocele. But a surprising result from an emergency laparotomy revealed a significant GB perforation, different from the previous diagnosis. This case highlights the difficulties in identifying atypical GB diseases, particularly in individuals with mental comorbidities that could conceal or alter the expression of physical symptoms. To confirm or rule out differential diagnosis and allow early and tailored treatments, it emphasizes the need for thorough diagnostic tests, including a complete clinical history, physical examinations, laboratory analysis, imaging modalities, and surgical procedures. This case emphasizes the importance of careful examination in complex medical contexts by stressing the requirement of thorough assessments and comprehensive diagnostic frameworks in navigating challenging clinical situations.

Background: Uterine leiomyomas are benign tumors characterized by pelvic pain and abnormal bleeding. Their evolution can lead to degenerative changes, occasionally mimicking malignancies on imaging, presenting diagnostic challenges. Case presentation: A 31-year-old nulliparous woman presented with symptoms of bloating, cramping, and abdominal distension. Imaging suggested an advanced ovarian malignancy, showing a complex adnexal mass and elevated CA-125 levels. During exploratory laparotomy, what was suspected to be ovarian cancer was instead identified as a large uterine mass on pathologic evaluation revealing a benign leiomyoma with extensive hydropic change. Conclusion: This case highlights the diagnostic intricacies associated with large complex adnexal masses and illustrates how benign conditions like leiomyomas with hydropic degeneration can mimic ovarian cancer. This emphasizes the importance of comprehensive preoperative and intraoperative assessments to tailor management and avoid unindicated radical procedures.

Abstract Background Although prostate cancer is a prevalent malignancy worldwide, its clinical presentation and management in the Middle East are not well-documented. This study aims to provide insights into the initial clinical presentation and management of prostate cancer in this region. Methods A retrospective review was conducted on seven institutional databases from six Middle Eastern countries, including Türkiye, Lebanon, Iraq, Syria, Bahrain, and Jordan, to identify patients diagnosed with prostate cancer in 2021. Descriptive analysis was performed on the collected data to provide an overview of the demographic, clinical, and treatment variables. Results A total of 1,136 patients were identified with a median age of 70 (range, 50–84). Most patients (78%) received their prostate cancer diagnosis after presenting with symptoms, as opposed to routine PSA screening. At the time of diagnosis, 35% of men had clinical T3 or T4 disease, 54% with Stage IV disease and 50% with Gleason score ≥ 8. Regarding treatment, 20% of non-metastatic and 22% of metastatic patients received no treatment. Conclusion Most men in this study sought prostate cancer evaluation due to symptoms and were subsequently diagnosed with advanced-stage disease, providing a foundation for future research aimed at understanding the underlying factors behind the observed trends and enabling informed interventions.

Abstract Lung cancer remains the leading cause of cancer-related deaths in Europe, with non-small cell lung cancer (NSCLC) accounting for approximately 85% of cases. NSCLC is a heterogeneous disease encompassing various oncogenic alterations. Among them, EGFR exon 20 insertion mutations, constituting 0.3–2.2% of NSCLC cases, rank as the third most common EGFR alteration after exon 19 deletions and the L858R point mutation in exon 21, also known as “typical” EGFR alterations. Recent advancements in understanding the molecular pathogenesis of NSCLC have led to significant breakthroughs in targeted therapies, revolutionizing treatment options for patients with specific genetic alterations. This article presents the outcomes of a Virtual Meeting conducted on the online platform (provided Within3©) from September 19 to October 30, 2022. The meeting focused on addressing the challenges in the diagnosis and treatment of NSCLC patients with EGFR exon 20 insertion mutations. The participants consisted of healthcare professionals from ten Central and Eastern European countries who shared their experiences and opinions on various aspects, including epidemiology, treatment options, and diagnostic approaches employed in their respective healthcare institutions. The discussions were facilitated through open-ended and multiple-choice questions. The primary objective of this article is to provide an overview of the identified challenges associated with the diagnosis and treatment of this heterogeneous disease, based on the assessments of the meeting participants. Among the major emerging challenges discussed, the reimbursement issues concerning next-generation sequencing (NGS), a recommended method in NSCLC molecular diagnosis, and the availability of approved targeted treatments to enhance patient outcomes were of paramount importance. Furthermore, fostering community awareness of lung cancer and promoting harmonized lung cancer care were identified as areas deserving greater attention. Notably, the rapidly evolving treatment landscape, particularly with NGS for NSCLC patients with genomic alterations like EGFR, ALK, RET, MET, NTRK, and ROS1, necessitates prioritizing the development of new drugs, even for the relatively smaller subgroup with exon 20 insertion mutations.

Abstract Background We report a case of a clinical challenge lasting for 12 months, with severe and unresolved clinical features involving several medical disciplines. Case presentation A 53-year-old Caucasian male, who had been previously healthy apart from a moderate renal impairment, was hospitalized 12 times during a 1-year period for a recurrent complex of neurological, cardiovascular, and gastrointestinal symptoms and signs, without any apparent etiology. On two occasions, he suffered a cardiac arrest and was successfully resuscitated. Following the first cardiac arrest, a cardiac defibrillator was inserted. During the 12th admission to our hospital, aconitine poisoning was suspected after a comprehensive multidisciplinary evaluation and confirmed by serum and urine analyses. Later, aconitine was also detected in a hair segment, indicating exposure within the symptomatic period. After the diagnosis was made, no further episodes occurred. His cardiac defibrillator was later removed, and he returned to work. A former diagnosis of epilepsy was also abandoned. Criminal intent was suspected, and his wife was sentenced to 11 years in prison for attempted murder. To make standardized assessments of the probability for aconitine poisoning as the cause of the eleven prior admissions, an “aconitine score” was established. The score is based on neurological, cardiovascular, gastrointestinal, and other clinical features reported in the literature. We also make a case for the use of hair analysis to confirm suspected poisoning cases evaluated after the resolution of clinical features. Conclusion This report illustrates the medical challenge raised by cases of covert poisoning. In patients presenting with symptoms and signs from several organ systems without apparent cause, poisoning should always be suspected. To solve such cases, insight into the effects of specific toxic agents is needed. We present an “aconitine score” that may be useful in cases of suspected aconitine poisoning.

Background: Rosette-Forming Glioneuronal Tumors (RGNTs) are rare, typically benign central nervous system tumors primarily located in the fourth ventricle and pineal region. Despite being classified as WHO grade I with generally favorable prognoses, RGNTs present complexities in their molecular mechanisms, occasional malignant transformation, and epidemiological characteristics that require further investigation. Method: This study systematically reviews the existing literature to analyze the epidemiological patterns, MRI characteristics, pathological features, diagnostic challenges, and molecular mechanisms associated with RGNTs, aiming to provide a comprehensive theoretical foundation for clinical practice and future research. Results: Through an in-depth review of recent studies, key molecular mechanisms, including mutations in FGFR1, PIK3CA, TERT, and IDH1/2, are highlighted. Additionally, the challenges in accurate diagnosis and the potential for misdiagnosis are discussed, emphasizing the importance of thorough molecular analysis in clinical settings. The literature indicates that RGNTs predominantly affect young adults and adolescents, with a slight female predominance. MRI typically reveals mixed cystic–solid lesions, often accompanied by hydrocephalus. Pathologically, RGNTs are characterized by a combination of neuronal and glial components, with immunohistochemical staining showing positivity for Synaptophysin and GFAP. High frequencies of FGFR1 and PIK3CA mutations underscore the significance of these pathways in RGNT pathogenesis and progression. Although RGNTs generally exhibit low malignancy, the TERT mutations identified in some cases suggest a risk of malignant transformation. Conclusions: This study concludes that while current treatment strategies focus on surgical resection, integrating molecular diagnostics and targeted therapies may be essential for managing recurrent or refractory RGNTs. Future research should explore the impact of various gene mutations on tumor behavior and their correlation with clinical outcomes, to optimize individualized therapeutic strategies and improve patient survival and quality of life.

Background: Although prostate cancer is a prevalent malignancy worldwide, its clinical presentation and management in the Middle East are not well-documented. This study aims to provide insights into the initial clinical presentation and management of prostate cancer in this region. Methods: A retrospective review was conducted on seven institutional databases from six Middle Eastern countries, including Türkiye, Lebanon, Iraq, Syria, Bahrain, and Jordan, to identify patients diagnosed with prostate cancer in 2021. Descriptive analysis was performed on the collected data to provide an overview of the demographic, clinical, and treatment variables. Results: A total of 1,136 patients were identified with a median age of 70 (range, 50–84). Most patients (78%) received their prostate cancer diagnosis after presenting with symptoms, as opposed to routine PSA screening. At the time of diagnosis, 35% of men had clinical T3 or T4 disease, 54% with Stage IV disease and 50% with Gleason score ≥ 8. Regarding treatment, 20% of non-metastatic and 22% of metastatic patients received no treatment. Conclusion: Most men in this study sought prostate cancer evaluation due to symptoms and were subsequently diagnosed with advanced-stage disease, providing a foundation for future research aimed at understanding the underlying factors behind the observed trends and enabling informed interventions. [ABSTRACT FROM AUTHOR]

Chronic pain constitutes a significant disease burden globally and accounts for a substantial portion of healthcare spending. The COVID-19 pandemic contributed to an increase in this burden as patients presented with musculoskeletal or neuropathic pain after contracting COVID-19 or had their chronic pain symptoms exacerbated by the virus. This extensive literature review analyzes the epidemiology of pain pre-pandemic, the costs associated with the COVID-19 pandemic, the impact of the virus on the body, mechanisms of pain, management of chronic pain post-pandemic, and potential treatment options available for people living with chronic pain who have had or are currently infected with COVID-19. [ABSTRACT FROM AUTHOR]

Lung cancer remains the leading cause of cancer-related deaths in Europe, with non-small cell lung cancer (NSCLC) accounting for approximately 85% of cases. NSCLC is a heterogeneous disease encompassing various oncogenic alterations. Among them, EGFR exon 20 insertion mutations, constituting 0.3–2.2% of NSCLC cases, rank as the third most common EGFR alteration after exon 19 deletions and the L858R point mutation in exon 21, also known as "typical" EGFR alterations. Recent advancements in understanding the molecular pathogenesis of NSCLC have led to significant breakthroughs in targeted therapies, revolutionizing treatment options for patients with specific genetic alterations. This article presents the outcomes of a Virtual Meeting conducted on the online platform (provided Within3©) from September 19 to October 30, 2022. The meeting focused on addressing the challenges in the diagnosis and treatment of NSCLC patients with EGFR exon 20 insertion mutations. The participants consisted of healthcare professionals from ten Central and Eastern European countries who shared their experiences and opinions on various aspects, including epidemiology, treatment options, and diagnostic approaches employed in their respective healthcare institutions. The discussions were facilitated through open-ended and multiple-choice questions. The primary objective of this article is to provide an overview of the identified challenges associated with the diagnosis and treatment of this heterogeneous disease, based on the assessments of the meeting participants. Among the major emerging challenges discussed, the reimbursement issues concerning next-generation sequencing (NGS), a recommended method in NSCLC molecular diagnosis, and the availability of approved targeted treatments to enhance patient outcomes were of paramount importance. Furthermore, fostering community awareness of lung cancer and promoting harmonized lung cancer care were identified as areas deserving greater attention. Notably, the rapidly evolving treatment landscape, particularly with NGS for NSCLC patients with genomic alterations like EGFR, ALK, RET, MET, NTRK, and ROS1, necessitates prioritizing the development of new drugs, even for the relatively smaller subgroup with exon 20 insertion mutations. [ABSTRACT FROM AUTHOR]

Key Clinical Message: Ventricular myocardial rupture is a rare complication of myocardial infarction. It occurs within hours to weeks after an infarction. Mortality is high. Antemortem diagnosis is a challenge in low‐resource settings, leading to potential misdiagnosis. Left ventricular myocardial rupture is a potentially fatal yet common complication in acute myocardial infarction patients. Rupture can occur as early as hours after an infarction. However, rupture may also occur later in the first week in the setting of myocardial necrosis and neutrophilic infiltration. Patients may survive several days to weeks before rupture occurs, and cardiac tamponade may present subacutely with a slow or repetitive clinical course. Sudden death can be attributed to ventricular rupture, more commonly during this time frame. Myocardial rupture can also occur as a result of trauma, infections, or cancer. Mortality is exceedingly high if surgical intervention is delayed. In most patients, myocardial rupture manifests as a catastrophic event within days of a first, small, uncomplicated acute myocardial infarction. Acute onset of shortness of breath, chest pain, shock, diaphoresis, unexplained emesis, cool and clammy skin, and syncope may herald the onset of ventricular septal rupture after acute myocardial infarction. Sudden death from myocardial rupture during acute myocardial infarction in patients with no apparent previous symptoms of myocardial ischemia represents a challenge for medical examiners, law enforcement officers, and society as a whole. An autopsy is critical for establishing the cause of death. We present the case of a 54‐year‐old male whose body was found beside the road after a trivial quarrel a day before. Further medical information about the deceased was not available. The preliminary cause of death was presumed to be traumatic. No evidence of trauma was seen during the autopsy. Massive pericardial blood collection compressing the heart and concealed left ventricular myocardial rupture were noted. Histopathological examination of the heart demonstrated myocardial infarction with a tear associated with bleeding that was contained in the pericardial sac. We ruled cardiac tamponade as the cause of death due to an infarcted myocardial rupture. Antemortem diagnosis of myocardial rupture can be challenging in low‐resource settings, leading to potential misdiagnosis and negative impacts such as community conflicts. [ABSTRACT FROM AUTHOR]

Background: This comprehensive review delves into the nuanced domain of arterial axis lesions associated with proximal humeral fractures, elucidating the intricate interplay between fracture patterns and vascular compromise. Proximal humeral fractures, a common orthopedic occurrence, often present challenges beyond the skeletal realm, necessitating a profound understanding of the vascular implications. Methods: The study synthesizes the existing literature, presenting a collective analysis of documented cases and their respective clinical outcomes. The spectrum of arterial axis lesions, from subtle vascular compromise to overt ischemic events, is systematically examined, highlighting the varied clinical manifestations encountered in proximal humeral fractures. Diagnostic modalities, including advanced imaging techniques such as angiography and Doppler ultrasound, are scrutinized for their efficacy in identifying arterial axis lesions promptly. The review emphasizes the critical role of early and accurate diagnosis in mitigating the potential sequelae associated with vascular compromise, thereby underscoring the importance of a vigilant clinical approach. Results: Therapeutic strategies, ranging from conservative management to surgical interventions, are critically evaluated in the context of existing evidence. The evolving landscape of endovascular interventions and their applicability in addressing arterial axis lesions specific to proximal humeral fractures is explored, providing valuable insights for clinicians navigating the therapeutic decision-making process. Furthermore, the review addresses gaps in current knowledge and proposes avenues for future research, emphasizing the need for tailored, evidence-based guidelines in the management of arterial axis lesions in proximal humeral fractures. By consolidating current understanding and pointing towards areas warranting further exploration, this review contributes to the ongoing discourse surrounding the intricacies of vascular complications in orthopedic trauma. Conclusions: this comprehensive review provides a synthesized overview of arterial axis lesions in proximal humeral fractures, offering a valuable resource for clinicians, researchers, and educators alike. The findings underscore the multifaceted nature of these lesions and advocate for a holistic, patient-centered approach to their management. [ABSTRACT FROM AUTHOR]

Key Clinical Message Hepatic micro‐abscesses can be a rare initial presentation of systemic lupus erythematosus (SLE). This case highlights the importance of considering autoimmune etiologies when infectious causes are ruled out and emphasizes the need for early recognition and appropriate treatment of atypical hepatic manifestations in SLE to achieve favorable outcomes. Abstract Systemic lupus erythematosus (SLE) is an autoimmune disease that affects multiple organs, including the liver. While hepatic involvement in SLE is typically subclinical or associated with mild liver enzyme elevations, rare manifestations such as hepatic micro‐abscesses and hepatic vasculitis have been reported. We report the case of a 27‐year‐old female who presented with persistent high‐grade fever, bilateral exudative lymphocytic pleural effusion, hepatic micro‐abscesses, anemia, and lymphopenia. Despite extensive investigations and antibiotic therapy, the patient's condition continued to worsen. The diagnosis of hepatic vasculitis, a rare manifestation of SLE, was ultimately made based on clinical suspicion, positive autoimmune markers, and negative septic workup. The patient responded well to high‐dose corticosteroid therapy and intravenous immunoglobulin, with resolution of liver lesions and clinical improvement. Hepatic involvement in SLE is diverse, and atypical presentations can pose diagnostic challenges. Hepatic vasculitis, although rare, should be considered in SLE patients presenting with liver lesions. The management involves immunosuppressive therapy, and prompt diagnosis is crucial to prevent further vascular damage. Hepatic micro‐abscesses, another rare manifestation of SLE, are thought to result from immune complex deposition. The exact pathogenesis remains unclear. Hepatic micro‐abscesses can have both infectious and non‐infectious causes, and it is very important to rule out common microbial pathogens. Treatment focuses on managing the underlying SLE activity with immunosuppressive agents. This case highlights the diagnostic challenges and management considerations in atypical hepatic manifestations of SLE. Awareness of rare presentations and collaboration among multiple specialties are essential for accurate diagnosis and appropriate treatment.

Key Clinical Message Meningiomas present diverse clinical and radiological characteristics, with cystic formations constituting a lesser subset but posing significant diagnostic hurdles. We explore the complexities of cystic meningiomas through a distinctive case, highlighting the challenges in diagnosis and management due to their variable presentations. A 54‐year‐old female from Bengaluru, Karnataka, initially presented with transient memory disturbances. Brain MRI revealed a sizable left frontal cystic lesion exerting a mass effect and midline shift. However, rapid neurological decline led to an urgent surgical intervention via decompressive craniectomy unveiling unique intraoperative findings and with subsequent histopathological documentation of a Grade WHO 1 cystic meningioma. Cystic meningiomas present intricate diagnostic challenges resembling other intracranial lesions. Various classification systems attempt to categorize these tumors based on their imaging and histopathological characteristics. Despite this, atypical clinical manifestations often lead to misdiagnoses, necessitating a comprehensive approach to differential diagnosis. Further research is crucial to unravel the mechanisms underlying these tumors' cystic changes for improved diagnostic accuracy and tailored therapeutic interventions.

Background: Patients with advanced HIV can present with multiple life-threatening pathologies. Disseminated histoplasmosis is an underdiagnosed infection in advanced HIV which can lead to haemophagocytic lymphohistiocytosis (HLH). Case report: A 36-year-old woman originally from Nigeria was admitted with a two-month history of weight loss, fevers and a papular rash. She was diagnosed with advanced HIV with a CD4 count of 5 cells/mm3 and was pancytopaenic. She spiked fevers despite broad-spectrum antimicrobial therapy. Elevated ferritin and triglycerides levels with haemophagocytosis on bone marrow biopsy indicated HLH; she was treated with immunosuppressive therapy. Mycobacterial blood cultures grew Mycobacterium avium-intracellulare (MAI). She also had an Abiotrophia defectiva bacteraemia, Staphylococcus epidermidis line infection and cytomegalovirus viraemia. Despite treatment of her conditions, the patient deteriorated requiring ICU admission. Blood cultures eventually grew Histoplasma capsulatum. Biopsy of the rash showed fungal elements. She was treated for disseminated histoplasmosis (DH) with antifungals and improved. Discussion: Management of patients with advanced HIV who have multiple pathologies and numerous drug therapies relies on effective multi-disciplinary team involvement. Despite early diagnosis of advanced HIV and early consideration for HLH, there was a significant delay in diagnosis of DH, a condition with a high mortality. This delay was due to factors including the initial attribution of pancytopaenia and fever to HLH and MAI infection instead of DH, as well as the slow growth of H. capsulatum in cultures and lack of alternative diagnostics. Conclusion: Awareness of DH as a cause of HLH in the context of advanced HIV is crucial. Early diagnosis and treatment of both HLH and DH in the context of advanced HIV is associated with improved survival.

Angiomatous antrochoanal polyps (AACP) are rare sinonasal lesions characterized by vascular proliferation within polypoid tissue. We presented a case of a 16-year-old male with bilateral nasal obstruction and recurrent epistaxis, diagnosed with AACP based on clinical presentation and radiological findings. Contrast-enhanced computed tomography (CECT) revealed a soft tissue density mass causing extensive occlusion of paranasal sinuses, with atypical enhancement and arterial pedicle supply from the right lateral nasal wall. Histopathological examination confirmed dilated vascular spaces within the polypoid tissue. Management involved surgical excision, achieving complete resection with preservation of sinonasal anatomy. The patient experienced symptomatic relief postoperatively with no evidence of recurrence at follow-up. The case underscores the diagnostic challenges posed by AACP due to its variable clinical presentation and radiological features, necessitating a multidisciplinary approach for accurate diagnosis and optimal management. This report contributes to the existing literature on AACP, emphasizing the importance of heightened awareness and comprehensive evaluation in the assessment of sinonasal masses. Further research is warranted to elucidate the pathophysiology and optimal treatment strategies for AACP. [ABSTRACT FROM AUTHOR]

Osteomyelitis (OM) is a major challenge in orthopedic surgery. The diagnosis of OM is based on imaging and laboratory tests, but it still presents some limitations. Therefore, a deeper comprehension of the pathogenetic mechanisms could enhance diagnostic and treatment approaches. OM pathogenesis is based on an inflammatory response to pathogen infection, leading to bone loss. The present study aims to investigate the potential diagnostic role of a panel of osteoimmunological serum biomarkers in the clinical approach to OM. The focus is on the emerging infection biomarker sCD14-ST, along with osteoimmunological and inflammatory serum biomarkers, to define a comprehensive biomarker panel for a multifaced approach to OM. The results, to our knowledge, demonstrate for the first time the diagnostic and early prognostic role of sCD14-ST in OM patients, suggesting that this biomarker could address the limitations of current laboratory tests, such as traditional inflammatory markers, in diagnosing OM. In addition, the study highlights a relevant diagnostic role of SuPAR, the chemokine CCL2, the anti-inflammatory cytokine IL-10, the Wnt inhibitors DKK-1 and Sclerostin, and the RANKL/OPG ratio. Moreover, CCL2 and SuPAR also exhibited early prognostic value.

Abstract Background Lipoedema is an adipose tissue disorder that is still not fully understood. The primary purpose of this study is to explore the state of knowledge and understanding of lipoedema among Polish women. The secondary aim is to investigate the possible association between knowledge and factors such as BMI, self-reported symptoms, and age. Methods One hundred seventy polish women took part in an online survey study that was posted to social media groups and forums in January 2022. The survey consisted of 12 questions and aimed at assessing the basic knowledge about lipoedema. Results The least proportion of participants (4%) could correctly indicate the methods of lipoedema treatment. The accurate definition of lipoedema was indicated only by 7% of women, 12% identified characteristic features of lipoedema, and 37% correctly evaluated lipoedema curability. The greatest proportion of respondents knew the differences between obesity and lipoedema (50%). Conclusions Awareness of lipoedema among women is deficient. A significant proportion of the respondents report the occurrence of lipoedema symptoms. In order to improve the situation of lipoedema patients, it is crucial to increase the knowledge about this condition both among medical professionals and the general public.

Key Clinical Message Ventricular myocardial rupture is a rare complication of myocardial infarction. It occurs within hours to weeks after an infarction. Mortality is high. Antemortem diagnosis is a challenge in low‐resource settings, leading to potential misdiagnosis. Abstract Left ventricular myocardial rupture is a potentially fatal yet common complication in acute myocardial infarction patients. Rupture can occur as early as hours after an infarction. However, rupture may also occur later in the first week in the setting of myocardial necrosis and neutrophilic infiltration. Patients may survive several days to weeks before rupture occurs, and cardiac tamponade may present subacutely with a slow or repetitive clinical course. Sudden death can be attributed to ventricular rupture, more commonly during this time frame. Myocardial rupture can also occur as a result of trauma, infections, or cancer. Mortality is exceedingly high if surgical intervention is delayed. In most patients, myocardial rupture manifests as a catastrophic event within days of a first, small, uncomplicated acute myocardial infarction. Acute onset of shortness of breath, chest pain, shock, diaphoresis, unexplained emesis, cool and clammy skin, and syncope may herald the onset of ventricular septal rupture after acute myocardial infarction. Sudden death from myocardial rupture during acute myocardial infarction in patients with no apparent previous symptoms of myocardial ischemia represents a challenge for medical examiners, law enforcement officers, and society as a whole. An autopsy is critical for establishing the cause of death. We present the case of a 54‐year‐old male whose body was found beside the road after a trivial quarrel a day before. Further medical information about the deceased was not available. The preliminary cause of death was presumed to be traumatic. No evidence of trauma was seen during the autopsy. Massive pericardial blood collection compressing the heart and concealed left ventricular myocardial rupture were noted. Histopathological examination of the heart demonstrated myocardial infarction with a tear associated with bleeding that was contained in the pericardial sac. We ruled cardiac tamponade as the cause of death due to an infarcted myocardial rupture. Antemortem diagnosis of myocardial rupture can be challenging in low‐resource settings, leading to potential misdiagnosis and negative impacts such as community conflicts.

A wide range of gastrointestinal and extra-intestinal symptoms have long been linked to celiac disease, a complex autoimmune illness brought on by gluten consumption. A growing corpus of research, however, indicates that a sizable fraction of those who have celiac disease can experience mild or even no symptoms at all. The article investigates the mysterious idea of "Celiac Disease with No Symptoms," illuminating its prevalence, diagnostic difficulties, and clinical ramifications. We look at the potential long-term effects of untreated silent celiac disease as well as its potential public health implications. With an emphasis on the significance of early detection and intervention to lessen the pernicious effects of this frequently elusive disorder, this review highlights the need for increased awareness among healthcare professionals and the general public. [ABSTRACT FROM AUTHOR]

The advent of artificial intelligence (AI) has brought about significant changes in the fields of pathology and radiology, particularly in the area of diagnostic accuracy. Although AI has enormous potential for enhancing the precision and effectiveness of diagnosis, it also presents an array of challenges. This review article examines the diagnostic challenges of AI in pathology and radiology. The article begins by giving a general review of AI and its potential applications in pathology and radiology. It then discusses the challenges posed by AI in the areas of data quality, generalization, interpretability, and hardware limitations. The article also explores the ethical and regulatory implications of AI in diagnostic settings, including issues of bias and transparency. Finally, the article offers potential solutions to address these challenges, such as standardization of AI algorithms, data sharing initiatives, saliency mapping, adversarial training of algorithms, cloud computing, edge computing, hybrid approaches, and increased collaboration between human experts and AI systems. Overall, this review highlights the critical importance of addressing the diagnostic challenges of AI in pathology and radiology to make sure AI is able to achieve its potential to enhance patient care. [ABSTRACT FROM AUTHOR]