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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 PDFAdvancing cancer therapy with custom-built alternating electric field devices.
Bioelectron Med
January 2025
School of Pharmacy, Biodiscovery Institute & Boots Science Building, University of Nottingham, Nottingham, NG7 2RD, UK.
Background: In glioblastoma (GBM) therapy research, tumour treating fields by the company Novocure™, have shown promise for increasing patient overall survival. When used with the chemotherapeutic agent temozolomide, they extend median survival by five months. However, there is a space to design alternative systems that will be amenable for wider use in current research.
View Article and Find Full Text PDFMolecular and cellular characteristics of cerebrovascular cell types and their contribution to neurodegenerative diseases.
Mol Neurodegener
January 2025
The Picower Institute for Learning and Memory, Cambridge, MA, USA.
Many diseases and disorders of the nervous system suffer from a lack of adequate therapeutics to halt or slow disease progression, and to this day, no cure exists for any of the fatal neurodegenerative diseases. In part this is due to the incredible diversity of cell types that comprise the brain, knowledge gaps in understanding basic mechanisms of disease, as well as a lack of reliable strategies for delivering new therapeutic modalities to affected areas. With the advent of single cell genomics, it is now possible to interrogate the molecular characteristics of diverse cell populations and their alterations in diseased states.
View Article and Find Full Text PDFLesbian, gay, bisexual, and transgender clinical competence of health professionals in Poland and Spain: results of the health exclusion research in Europe (HERE) study.
BMC Med Educ
January 2025
Group of Research in Care and Health (GRUPAC), Faculty of Health Sciences, University of La Rioja, Logroño, 26006, Spain.
Introduction: Health disparities experienced by lesbian, gay, bisexual, and transgender (LGBT) individuals have been partially attributed to healthcare professionals' lack of cultural competence in addressing their specific needs. This study aimed to assess the differences in competencies and preparedness among health professionals from Poland and Spain when working with LGBT patients.
Methodology: Data were collected between June and August 2024 through a cross-sectional survey involving 673 health professionals (Mage = 33.
Knights in shining armour and (M)others in life jackets: Women's experiences of advocating for care alone when suffering recurrent early pregnancy loss during the SARS-CoV-2 pandemic.
BMC Public Health
January 2025
Department of Women & Children's Health, King's College London, London, UK.
Background: Recurrent early pregnancy loss [rEPL] is a traumatic experience, marked by feelings such as grief and depression, and often anxiety. Despite this, the psychological consequences of rEPL are often overlooked, particularly when considering future reproductive health or approaching subsequent pregnancies. The SARS-CoV-2 pandemic led to significant reconfiguration of maternity care and a negative impact on the perinatal experience, but the specific impact on women's experience of rEPL has yet to be explored.
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