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Validating a clinically based MS-MLPA threshold through comparison with Sanger sequencing in glioblastoma patients.
Clin Epigenetics
January 2025
Center of Oncocytogenomics, Institute of Medical Biochemistry and Laboratory Diagnostics, General University Hospital and 1st Faculty of Medicine of Charles University in Prague, U Nemocnice 499/2, 128 00, Prague, Czech Republic.
Background: Glioblastoma is the commonest malignant brain tumor and has a very poor prognosis. Reduced expression of the MGMT gene (10q26.3), influenced primarily by the methylation of two differentially methylated regions (DMR1 and DMR2), is associated with a good response to temozolomide treatment.
View Article and Find Full Text PDFRisk factors associated with higher WHO grade in meningiomas: a multicentric study of 552 skull base meningiomas.
Sci Rep
January 2025
Department of Neurosurgery and Neurooncology, First Faculty of Medicine, Charles University and Military University Hospital, U Vojenske nemocnice 1200, Prague, 169 02, Czech Republic.
The histological grade is crucial for therapeutic management, and its reliable preoperative detection can significantly influence treatment approach. Lacking established risk factors, this study identifies preoperative predictors of high-grade skull base meningiomas and discusses the implications of non-invasive detection. A multicentric study was conducted on 552 patients with skull base meningiomas who underwent primary surgical resection between 2014 and 2019.
View Article and Find Full Text PDFInvestigating Cardiac Amyloidosis: A Primer for Clinicians.
R I Med J (2013)
February 2025
Department of Medicine, Division of Cardiology, Alpert Medical School of Brown University, Providence RI.
Cardiac amyloidosis (CA) is an infiltrative disease that results from the deposition of amyloid fibrils in the myocardium, resulting in restrictive cardiomyopathy. The amyloid fibrils are predominantly derived from two parent proteins, immunoglobulin light chain (AL) and transthyretin (ATTR), and ATTR is further classified into hereditary (ATTRv) and wild-type (ATTRwt) based on the presence or absence, respectively, of a mutation in the transthyretin gene. Once thought to be a rare entity, CA is increasingly recognized as a significant cause of heart failure due to improved clinical awareness and better diagnostic imaging.
View Article and Find Full Text PDFElevated Plasma CXCL8 Concentrations in Significant Fibrosis but Not in Subclinical Rejection After Adult Liver Transplantation.
Transplant Direct
March 2024
Department of Gastroenterology, Hepatology, Infectious Diseases and Endocrinology, Hannover Medical School, Hannover, Germany.
Background: The noninvasive detection of subclinical graft injury including subclinical T cell-mediated rejection (subTCMR) is one of the unresolved challenges after liver transplantation. Recently, serum C-X-C motif chemokine ligand 8 (CXCL8) was proposed as a highly accurate marker of subTCMR in pediatric liver transplant recipients. We aimed to evaluate the accuracy of the quantification of this chemokine for predicting subTCMR in adult liver transplant recipients, as well as its capacity to classify patients who could benefit from immunosuppression reduction.
View Article and Find Full Text PDFCollision tumours: our recent experience.
Postepy Dermatol Alergol
December 2024
Department of Dermatology, Venereology and Allergology, Wroclaw Medical University, Wroclaw, Poland.
Introduction: Collision skin lesions (CSL) are rare clinical and pathological entities, posing significant diagnostic and therapeutic challenges. These lesions comprise at least two distinct cell populations - benign and/or malignant neoplasms - that are adjacent yet clearly demarcated. CSL were categorized as collision tumours into three types: two benign lesions, one benign and one malignant lesion, and two malignant lesions, with the most common being basal cell carcinoma (BCC) and melanocytic naevus.
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