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A novel variant in the ABCA1 gene for Tangier Disease with diffuse histiocytosis of bone marrow.
J Clin Lipidol
December 2024
Internal Medicine Department, Coimbra's Healthcare Integrated Delivery System, Praceta Professor Mota Pinto, 3004-561, Coimbra, Portugal.
Tangier disease is an extremely rare autosomal recessive monogenic disorder caused by mutations in the ATP binding cassette transporter A1 gene (ABCA1). It is characterized by severe deficiency or absence of high-density lipoprotein cholesterol (HDL-C) and apolipoprotein A-1 (ApoA1), with highly variable clinical presentations depending on cholesterol accumulation in macrophages across different tissues. We report a case of a 47-year-old man with very low HDL-C and very high triglyceride levels, initially attributed to the patient's metabolic syndrome, alcohol abuse, and splenomegaly.
View Article and Find Full Text PDFAssociation of statins use and genetic susceptibility with incidence of Alzheimer's disease.
J Prev Alzheimers Dis
February 2025
Department of Neurology, Fujian Medical University Union Hospital, Fujian Key Laboratory of Molecular Neurology and Institute of Neuroscience, Fujian Medical University, No.29, Xinquan Road, Gulou District, Fuzhou, Fujian Province, 350000, China; Institute of Clinical Neurology, Fujian Medical University, No.29 Xinquan Road, Gulou District, Fuzhou, Fujian Province, 350000, China. Electronic address:
Background: The effect of statins use on the incidence of Alzheimer's disease (AD) is still under debate, and it could be modified by a series of factors.
Objectives: We aimed to examine the association of statins use with the risk of cognitive impairment and AD, and assess the moderating roles of genetic susceptibility and other individual-related factors.
Design: A longitudinal study was conducted from the UK Biobank where individuals completed baseline surveys (2006-2010) and were followed (mean follow-up period: 9 years).
Microstructural white matter injury contributes to cognitive decline: Besides amyloid and tau.
J Prev Alzheimers Dis
February 2025
Department of Neurology and National Center for Neurological Disorders, Huashan Hospital, State Key Laboratory of Medical Neurobiology and MOE Frontiers Center for Brain Science, Shanghai Medical College, Fudan University, Shanghai, PR China. Electronic address:
Background: Cognitive decline and the progression to Alzheimer's disease (AD) are traditionally associated with amyloid-beta (Aβ) and tau pathologies. This study aims to evaluate the relationships between microstructural white matter injury, cognitive decline and AD core biomarkers.
Methods: We conducted a longitudinal study of 566 participants using peak width of skeletonized mean diffusivity (PSMD) to quantify microstructural white matter injury.
Biomarkers and Social Determinants in atherosclerotic Arterial Diseases: A Scoping Review.
Ann Vasc Surg
January 2025
Department of Medical and Surgical Sciences, Magna Graecia University of Catanzaro, 88100, Catanzaro, Italy; Interuniversity Center of Phlebolymphology (CIFL), "Magna Graecia" University, 88100 Catanzaro, Italy. Electronic address:
Background: Arterial diseases like coronary artery disease, carotid stenosis, peripheral artery disease, and abdominal aortic aneurysm have high morbidity and mortality, making them key research areas. Their multifactorial nature complicates patient treatment and prevention. Biomarkers offer insights into the biochemical and molecular processes, while social factors also significantly impact patients' health and quality of life.
View Article and Find Full Text PDFImpact of Genetic Variants on Vitamin E Levels in an Italian Cohort of Bariatric Surgery Patients: A Focus on SNPs Involved with Transport and Bioavailability.
Int J Mol Sci
January 2025
Department of Medical, Surgical and Neurological Sciences, University of Siena, 53100 Siena, Italy.
Obesity is a global epidemic associated with chronic inflammation, oxidative stress, and metabolic disorders. Bariatric surgery is a highly effective intervention for sustained weight loss and the improvement of obesity-related comorbidities. However, post-surgery nutritional deficiencies, including vitamin E, remain a concern.
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