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http://dx.doi.org/10.1093/ehjcr/ytad200 | DOI Listing |
Genes (Basel)
December 2024
The School of Genetics and Microbiology, Trinity College Dublin, Dublin 2, D02 VF25 Dublin, Ireland.
Background: An estimated 10-15% of all genetic diseases are attributable to variants in noncanonical splice sites, auxiliary splice sites and deep-intronic variants. Most of these unstudied variants are classified as variants of uncertain significance (VUS), which are not clinically actionable. This study investigated two novel splice-altering variants, NM_000390.
View Article and Find Full Text PDFBiomedicines
January 2025
Morpho-Functional Sciences Department, Iuliu Hațieganu University of Medicine and Pharmacy, 400347 Cluj-Napoca, Romania.
Despite the massive efforts of modern medicine to stop the evolution of Alzheimer's disease (AD), it affects an increasing number of people, changing individual lives and imposing itself as a burden on families and the health systems. Considering that the vast majority of conventional drug therapies did not lead to the expected results, this review will discuss the newly developing therapies as an alternative in the effort to stop or slow AD. Focused Ultrasound (FUS) and its derived Transcranial Pulse Stimulation (TPS) are non-invasive therapeutic approaches.
View Article and Find Full Text PDFSci Rep
January 2025
Department of Neurology, Inner Mongolia Autonomous Region People's Hospital, Hohhot, China.
Acute internal carotid artery occlusion (AICAO) can result in malignant cerebral edema and unfavorable patient outcomes. This study evaluated the utility of transcranial Doppler (TCD) in assessing contralateral flow compensation and predicting outcomes in patients with AICAO. We enrolled 51 patients within 6 h of symptom onset and conducted TCD examinations to evaluate collateral circulation.
View Article and Find Full Text PDFNature
January 2025
Division of Mental Health and Addiction, Oslo University Hospital, Oslo, Norway.
Bipolar disorder is a leading contributor to the global burden of disease. Despite high heritability (60-80%), the majority of the underlying genetic determinants remain unknown. We analysed data from participants of European, East Asian, African American and Latino ancestries (n = 158,036 cases with bipolar disorder, 2.
View Article and Find Full Text PDFJ Thorac Dis
December 2024
Department of Radiation Oncology, Ren Ji Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, China.
Background: Although multimodality treatment, including chemoradiotherapy and surgery has significantly improved the prognosis of patients with esophageal squamous cell carcinoma (ESCC), a valid predictor is crucial for individualized treatment. As acyl-CoA synthetase long-chain family member 4 (ACSL4) and glutathione peroxidase 4 (GPX4) are key genes with radiation responses and constituents of the ferroptosis signaling pathway, the present study adopted ACSL4 and GPX4 protein expression to explore their predictive and prognostic value in patients with ESCC receiving adjuvant radiotherapy.
Methods: A total of 108 patients with thoracic ESCC who had undergone radical surgery and adjuvant radiotherapy were enrolled in the present retrospectively study.
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