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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 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 PDFMetabolic/bariatric surgery optimization: a position statement by Arabic association for the study of diabetes and metabolism (AASD).
Diabetol Metab Syndr
January 2025
Faculty of Medicine, Cairo University,Internal Medicine Diabetes and Endocrinology Department, Cairo, Egypt.
For patients considering bariatric surgery, it is essential to have clear answers to common questions to ensure the success of the procedure. Patients should understand that surgery is not a quick fix but a tool that must be complemented by lifestyle changes, including dietary adjustments and regular physical activity. The procedure carries potential risks that should be weighed against the potential benefits.
View Article and Find Full Text PDFSolving unknown primary cancer with earlier diagnosis - the SUPER-ED trial: study protocol for a stepped-wedge cluster randomised controlled trial to support earlier diagnosis for people presenting with malignancy of undefined primary origin.
BMC Cancer
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Peter MacCallum Cancer Centre, Parkville, Victoria, Australia.
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View Article and Find Full Text PDFSequential testing with Xpert MTB/RIF assay for diagnosis of tuberculous meningitis in Maharaj Nakorn Chiang Mai University Hospital.
Sci Rep
January 2025
Division of Infectious Diseases and Tropical Medicine, Department of Internal Medicine, Faculty of Medicine, Chiang Mai University, 110 Intavaroros Rd., Muaeng, Chiang Mai, 50200, Thailand.
Early diagnosis and appropriate treatment are essential for reducing morbidity and mortality in tuberculous meningitis (TBM). This study aimed to evaluate the diagnostic performance of the Xpert MTB/RIF assay for the diagnosis of TBM in patients with subacute lymphocytic meningitis. This cross-sectional study included 65 cerebrospinal fluid (CSF) specimens from patients at Maharaj Nakorn Chiang Mai University Hospital, Thailand, between January 2015 and March 2016.
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