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Evaluation of Lyso-Gb1 as a biomarker for Gaucher disease treatment outcomes using data from the Gaucher Outcome Survey.
Orphanet J Rare Dis
January 2025
Department of Gastroenterology, Hepatology and Infectious Diseases, University Hospital, Heinrich- Heine University, Düsseldorf, Germany.
Background: Patients with Gaucher disease (GD) require continual monitoring; however, lack of specific disease biomarkers was a significant challenge in the past. Glucosylsphingosine (lyso-Gb1) has been shown to be a reliable, key, specific, and sensitive biomarker for diagnosis, prognosis, and treatment response in clinical studies of patients with GD. We evaluated the change in lyso-Gb1 concentration over time following enzyme replacement therapy in patients with confirmed GD using real-world data from the Gaucher Outcome Survey disease registry.
View Article and Find Full Text PDFTurkish validity and reliability study of the psychological food involvement scale: PFIS-TR.
BMC Psychol
January 2025
Department of Nutrition and Dietetics, Faculty of Health Science, Istanbul Beykent University, Istanbul, Turkey.
Background: This study aimed to adapt the Psychological Food Involvement Scale (PFIS) to Turkish culture and test its validity and reliability. The PFIS measures individuals' psychological, emotional, and social relationships with food, which significantly impact eating behaviors and health.
Methods: The study was conducted with 478 participants aged 18-65.
Catlet scoring system as a new predictor for in-stent restenosis in patients with chronic coronary artery disease undergoing percutaneous coronary intervention with drug-eluting stent.
J Cardiothorac Surg
January 2025
Department of Cardiology, The first Affiliated Hospital of Wannan, Medical College, Wuhu, China.
Background: He's team have recently developed a new Coronary Artery Tree description and Lesion EvaluaTion (CatLet) angiographic scoring system, which is capable of accounting for the variability in coronary anatomy, and risk-stratifying patients with coronary artery disease. Preliminary studies have demonstrated its superiority over the the Synergy between percutaneous coronary intervention with Taxus and Cardiac Surgery (SYNTAX) score with respect to outcome predictions for acute myocardial infarction (AMI) patients. However, there are fewer studies on the prognostic in chronic coronary artery disease(CAD).
View Article and Find Full Text PDFValidating 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 PDFDetection of early relapse in multiple myeloma patients.
Cell Div
January 2025
Babak Myeloma Group, Department of Pathophysiology, Faculty of Medicine, Masaryk University, Brno, Czech Republic.
Background: Multiple myeloma (MM) represents the second most common hematological malignancy characterized by the infiltration of the bone marrow by plasma cells that produce monoclonal immunoglobulin. While the quality and length of life of MM patients have significantly increased, MM remains a hard-to-treat disease; almost all patients relapse. As MM is highly heterogenous, patients relapse at different times.
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