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Somatic CAG repeat expansion in blood associates with biomarkers of neurodegeneration in Huntington's disease decades before clinical motor diagnosis.
Nat Med
January 2025
Huntington's Disease Centre, Department of Neurodegenerative Disease, UCL Queen Square Institute of Neurology, University College London, London, UK.
Huntington's disease (HD) is an autosomal dominant neurodegenerative disease with the age at which characteristic symptoms manifest strongly influenced by inherited HTT CAG length. Somatic CAG expansion occurs throughout life and understanding the impact of somatic expansion on neurodegeneration is key to developing therapeutic targets. In 57 HD gene expanded (HDGE) individuals, ~23 years before their predicted clinical motor diagnosis, no significant decline in clinical, cognitive or neuropsychiatric function was observed over 4.
View Article and Find Full Text PDFRisk factors for severe adverse drug reactions in hospitalized patients.
Open Med (Wars)
January 2025
Department of Pharmacology and Toxicology, Faculty of Medical Sciences, University of Kragujevac, Svetozara Markovića 69, 34000, Kragujevac, Serbia.
Background: Severe adverse drug reactions (sADRs) are becoming increasingly common nowadays. The incidence of sADRs is approaching 6.7%, and the incidence of fatal adverse reactions is 0.
View Article and Find Full Text PDFHemodynamic Relevance Evaluation of Coronary Artery Anomaly During Stress Using FFR/IVUS in an Artificial Twin.
JACC Case Rep
January 2025
Department of Cardiology, Inselspital, Bern University Hospital, University of Bern, Bern, Switzerland.
Anomalous aortic origin of coronary artery can lead to ischemia. Due to the limitations of invasive catheterization dobutamine stress testing, an alternative noninvasive approach is desired. A 65-year-old woman with atypical chest pain was referred for coronary computed tomography angiography.
View Article and Find Full Text PDFBosutinib for the Treatment of CML-Using it Safely: a Podcast.
Target Oncol
January 2025
Division of Hematology and SCT, Georgia Cancer Centre, Augusta, GA, USA.
Bosutinib is a second-generation tyrosine kinase inhibitor (TKI) approved for use in patients with newly diagnosed Philadelphia chromosome (Ph)-positive chronic phase (CP) chronic myeloid leukemia (CML), as well as Ph-positive CP, accelerated phase, or blast phase (with chemotherapy) CML resistant or intolerant to prior therapy. Clinical trials have shown bosutinib is effective as first-line therapy for patients with CML as well as in later lines of therapy after prior TKI failure. Bosutinib has an established safety profile; however, as with all TKIs approved for the treatment of CML, there are adverse events (AEs) that require management.
View Article and Find Full Text PDFAssociation of Alzheimer's Disease Polygenic Risk Score with Concussion Severity and Recovery Metrics.
Sports Med
January 2025
Indiana Alzheimer's Disease Research Center, Indiana University School of Medicine, Indianapolis, IN, USA.
Background: Identification of genetic alleles associated with both Alzheimer's disease (AD) and concussion severity/recovery could help explain the association between concussion and elevated dementia risk. However, there has been little investigation into whether AD risk genes associate with concussion severity/recovery, and the limited findings are mixed.
Objective: We used AD polygenic risk scores (PRS) and APOE genotypes to investigate any such associations in the NCAA-DoD Grand Alliance CARE Consortium (CARE) dataset.
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