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MAPK1IP1L::TFE3-rearranged renal cell carcinoma: a novel fusion adding to the differential diagnosis of oncocytic renal neoplasms.
Virchows Arch
January 2025
Department of Pathology, Stanford Medical Center, 300 Pasteur Drive, Stanford, CA, 94305, USA.
Beyond the more common TFE3 fusion partners PRCC, ASPSCR1, and SFPQ, additional less common fusion partners of TFE3-rearranged renal cell carcinoma (RCC) have been described. Herein, we present an example of TFE3-rearranged renal cell carcinoma harboring fusion partner MAPK1IP1L, a rare rearrangement with only one other reported tumor found in the literature. The currently reported TFE3-rearranged RCC demonstrates unique histological features compared to the previously reported tumor including dense eosinophilic cytoplasm and nuclear pseudoinclusions (corroborated by electron microscopic evaluation), with features not typically seen in other TFE3-rearranged RCCs.
View Article and Find Full Text PDFIdentification of Novel Biomarkers for Ischemic Stroke Through Integrated Bioinformatics Analysis and Machine Learning.
J Mol Neurosci
January 2025
Lanzhou University Second Hospital, The Second Medical College of Lanzhou University, Cuiyingmen No.82, Chengguan District, Lanzhou, 730030, China.
Ischemic stroke leads to permanent damage to the affected brain tissue, with strict time constraints for effective treatment. Predictive biomarkers demonstrate great potential in the clinical diagnosis of ischemic stroke, significantly enhancing the accuracy of early identification, thereby enabling clinicians to intervene promptly and reduce patient disability and mortality rates. Furthermore, the application of predictive biomarkers facilitates the development of personalized treatment plans tailored to the specific conditions of individual patients, optimizing treatment outcomes and improving prognoses.
View Article and Find Full Text PDFProfiling Exosomal Metabolomics as a Means for Diagnosis and Researching Early-Stage Hypertensive Nephropathy.
Br J Hosp Med (Lond)
January 2025
Department of Cardiology, The Second Affiliated Hospital of Chengdu Medical College, Nuclear Industry 416 Hospital, Chengdu, Sichuan, China.
Hypertension (HT) is a prevalent medical condition showing an increasing incidence rate in various populations over recent years. Long-term hypertension increases the risk of the occurrence of hypertensive nephropathy (HTN), which is also a health-threatening disorder. Given that very little is known about the pathogenesis of HTN, this study was designed to identify disease biomarkers, which enable early diagnosis of the disease, through the utilization of high-throughput untargeted metabolomics strategies.
View Article and Find Full Text PDFAcute Q Fever after Kidney Transplantation: A Case Report.
Br J Hosp Med (Lond)
January 2025
Department of Rheumatism and Immunity, Beijing Tsinghua Changgung Hospital, School of Clinical Medicine, Tsinghua University, Beijing, China.
Patients receiving kidney transplant experience immunosuppression, which increases the risk of bacterial, viral, fungal, and parasitic infections. Q fever is a potentially fatal infectious disease that affects immunocompromised renal transplant recipients and has implications in terms of severe consequences for the donor's kidney. A patient with acute Q fever infection following kidney transplantation was admitted to the Tsinghua Changgung Hospital in Beijing, China, in March 2021.
View Article and Find Full Text PDFDelayed Diagnosis of Dysphagia: Consider "FOSMN".
Br J Hosp Med (Lond)
January 2025
Department of Neurology, Walton Centre for Neurology and Neurosurgery, Liverpool, UK.
An 80-year-old lady had a history of progressive swallowing difficulty over several years with significant weight loss, but prior investigations in several medical departments proved negative. Neurological assessment noted her complaint of impaired feeling for food in her mouth and examination showed impaired corneal reflexes and facial sensory function. Blink reflex electrodiagnostic testing was consistent with a diagnosis of facial onset sensory and motor neuronopathy (FOSMN).
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