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Lipomatous ependymoma with ZFTA: RELA fusion-positive: A case report.
World J Clin Cases
January 2025
Anshan Cancer Hospital, Anshan 114000, Liaoning Province, China.
Background: Ependymoma with lipomatous differentiation is a rare type of ependymoma. The ZFTA fusion-positive supratentorial ependymoma is a novel tumor type in the 2021 World Health Organization classification of central nervous system tumors. ZFTA fusion-positive lipomatous ependymoma has not been reported to date.
View Article and Find Full Text PDFBackground: Pulmonary arterial hypertension (PAH) is a rare but severe and life-threatening condition that primarily affects the pulmonary blood vessels and the right ventricle of the heart. The limited availability of human tissue for research ~most of which represents only end-stage disease~ has led to a reliance on preclinical animal models. However, these models often fail to capture the heterogeneity and complexity of the human condition.
View Article and Find Full Text PDFPrimary Intracranial Sarcoma, DICER1-Mutant, With Prominent Chondroid Differentiation: Case Report and Summary of Reported Patients in Literature.
Int J Surg Pathol
January 2025
Department of Pathology, Carver College of Medicine, University of Iowa, Iowa City, IA, USA.
Primary intracranial sarcoma, -mutant, included as a new diagnostic entity in the 2021 WHO Classification of Central Nervous System Tumors, is a rare, but aggressive neoplasm generally identified in the supratentorial forebrain. The prognostic implications of these uncommon tumors and optimal treatment strategy remain unclear. A 19-year-old woman was found unresponsive after reporting a severe headache.
View Article and Find Full Text PDFUCS: A Unified Approach to Cell Segmentation for Subcellular Spatial Transcriptomics.
Small Methods
January 2025
Department of Mathematics, The Hong Kong University of Science and Technology, Hong Kong SAR, 999077, China.
Subcellular Spatial Transcriptomics (SST) represents an innovative technology enabling researchers to investigate gene expression at the subcellular level within tissues. To comprehend the spatial architecture of a given tissue, cell segmentation plays a crucial role in attributing the measured transcripts to individual cells. However, existing cell segmentation methods for SST datasets still face challenges in accurately distinguishing cell boundaries due to the varying characteristics of SST technologies.
View Article and Find Full Text PDFGenetic profiling of Wilson disease reveals a potential recurrent pathogenic variant of ATP7B in the Jordanian population.
J Pediatr Gastroenterol Nutr
January 2025
Department of Pathology and Microbiology and Forensic Medicine, School of Medicine, The University of Jordan, Amman, Jordan.
Objectives: Wilson disease (WD) is an autosomal-recessive disorder that disrupts copper homeostasis. ATPase copper transporting beta (ATP7B) gene is implicated as the disease-causing gene in WD. The common symptoms associated with WD include hepatic, neurological, psychiatric, and ophthalmic manifestations.
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