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http://dx.doi.org/10.1007/s10143-023-02250-7 | DOI Listing |
Clin Exp Med
January 2025
Liver & Peritonectomy Unit, Department of Surgery, St George Hospital, Pitney Building, Short Street, Kogarah, NSW, 2217, Australia.
Purpose: This study seeks to resolve a fundamental question in oncology: Why do appendiceal and colorectal adenocarcinomas exhibit distinct liver metastasis rates? Building on our prior hypothesis published in the British Journal of Surgery, our institution has investigated potential DNA mutations within the carcinoembryonic antigen-related cell adhesion molecule (CEACAM5) gene's Pro-Glu-Leu-Pro-Lys (PELPK) motif to evaluate its role as a biomarker for liver metastasis risk.
Methods: Partnering with the Australian Genome Research Facility, the PELPK motif of CEACAM5 was analysed in colorectal and appendiceal adenocarcinomas to detect DNA mutations associated with liver metastasis. Additionally, our institution performed the COPPER trial to assess carcinoembryonic antigen (CEA) levels in portal versus peripheral blood in patients with appendiceal adenocarcinoma and a systematic review and meta-analysis of 136 studies on CEA's prognostic significance among patients with colorectal and appendiceal adenocarcinoma.
J Gen Intern Med
January 2025
University of Connecticut School of Medicine, Farmington, CT, USA.
J Clin Immunol
January 2025
Division of Allergy and Immunology, Children's Hospital of Philadelphia, Philadelphia, 19104, USA.
Major histocompatibility complex class I deficiency results from deleterious biallelic variants in TAP1, TAP2, TAPBP, and B2M genes. Only a few patients with variant-curated TAP1 deficiency (TAP1D) have been reported in the literature and the clinical phenotype has been variable with an emphasis on autoimmune and inflammatory complications. We report TAP1D in a Nepalese girl with a severe clinical phenotype with serious viral infections at a very young age.
View Article and Find Full Text PDFAlzheimers Dement
December 2024
Division of Clinical Geriatrics, Center for Alzheimer Research, Department of Neurobiology, Care Sciences and Society, Karolinska Institutet, Stockholm, Sweden.
Background: Cerebrovascular pathology is an emerging key contributor to neurodegeneration in both non-pathological and pathological aging. Cerebrovascular pathology manifests as different markers in the brain (gross- vs micro-infarcts, chronic vs acute infarcts, etc.).
View Article and Find Full Text PDFBackground: Greater physical activity (PA) is associated with better cognitive and vascular health, but accurate assessment of PA is challenging. Self-report questionnaires of PA may be compared against objective measures from smartwatch sensors; the correspondence between measures may be influenced by a variety of factors such as cognition or age. The focus of this study was to identify baseline participant characteristics (vascular risk, cognition) that influence the association between self-reported PA and PA measured with a Garmin Vivosmart 4 smartwatch in a racially diverse sample of older adults.
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