Stroke remains a major cause of death and disability worldwide. Identifying new circulating biomarkers able to distinguish and monitor common and rare cerebrovascular diseases that lead to stroke is of great importance. Biomarkers provide complementary information that may improve diagnosis, prognosis and prediction of progression as well. Furthermore, biomarkers can contribute to filling the gap in knowledge concerning the underlying disease mechanisms by pointing out novel potential therapeutic targets for personalized medicine. If many "conventional" lipid biomarkers are already known to exert a relevant role in cerebrovascular diseases, the aim of our study is to review novel "unconventional" lipid biomarkers that have been recently identified in common and rare cerebrovascular disorders using novel, cutting-edge lipidomic approaches.
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http://dx.doi.org/10.3390/ijms241612744 | DOI Listing |
Curr Oncol Rep
January 2025
Department of General, Visceral and Thoracic Surgery, University Medical Center Hamburg- Eppendorf, Martinistraße 52, D-20246, Hamburg, Germany.
Purpose Of Review: Neuroendocrine tumours (NET) are rare entities arising from hormone producing cells in the gastroentero-pancreatic (GEP) tract. Surgery is the most common treatment of GEP-NETs.
Recent Findings: Improvements in surgical techniques allow for more locally advanced and metastasised GEP-NETs to be resected.
Sci China Life Sci
January 2025
Department of Pulmonary and Critical Care Medicine, State Key Laboratory of Complex Severe and Rare Diseases, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing, 100730, China.
Lymphangioleiomyomatosis (LAM) is a rare neoplastic disease affecting the lung, kidney, and lymphatic system with a molecular mechanism of tuberous sclerosis complex 2 (TSC2) mutations. Vascular endothelial growth factor D (VEGF-D), a ligand for vascular endothelial growth factor receptor 3 (VEGFR3), is a diagnostic biomarker of LAM and is associated with lymphatic circulation abnormalities. This study explored the interaction between LAM cells and lymphatic endothelial cells (LECs) and the effects of rapamycin on this interaction, which may help to identify new targets for LAM treatment.
View Article and Find Full Text PDFVirchows 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 PDFPediatr Nephrol
January 2025
Pediatric Nephrology Services, Department of Pediatrics, Jawaharlal Institute of Postgraduate Medical Education and Research (JIPMER), Pondicherry, 605006, India.
Background: Limited research exists regarding the genetic profile, clinical characteristics, and outcomes of refractory rickets in children from India.
Methods: Patients with refractory rickets aged ≤ 18 years were enrolled. Data regarding clinical features, etiology, genotype-phenotype correlation, and estimated glomerular filtration rate (eGFR) were recorded.
Discov Oncol
January 2025
School of Medicine, Hamadan University of Medical Sciences, Pajoohesh Blvd, Hamadan, Iran.
Purpose: Paraneoplastic syndromes (PNS) are a group of rare disorders triggered by an immune response to malignancy, characterized by diverse neurological, muscular, and systemic symptoms. This study aims to leverage machine learning to develop a predictive model for cancer diagnosis in patients with paraneoplastic autoantibodies.
Methods: Demographic data included age and sex, and presenting symptoms were recorded.
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