Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1002/(sici)1096-8628(19970418)74:2<216::aid-ajmg22>3.0.co;2-k | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
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).
Enhancing dementia prediction: A 19-year validation of the CAIDE risk score with insulin resistance and APOE ε4 integration in a population-based cohort.
J Prev Alzheimers Dis
February 2025
Turku PET Centre, University of Turku, Turku, Finland; Turku PET Centre, Turku University Hospital, Turku, Finland; Department of Geriatrics, Turku University Hospital, Wellbeing services county of Southwestern Finland, Finland.
Background: Dementia is a significant cause of disability and dependency. Persons with high dementia risk but intact cognition will benefit from preventive interventions.
Objectives: The aim was to validate dementia risk score Cardiovascular Risk Factors, Aging and Incidence of Dementia (CAIDE) in a national population-based cohort with data on age, education, hypertension, obesity, hyperlipidemia and physical activity.
Impact 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.
View Article and Find Full Text PDFAssociation between apolipoprotein E ε4 status and the risk of Alzheimer's disease: a meta-analysis.
BMC Neurosci
January 2025
Department of General Medicine, Yanbian University Hospital, City of Yanji, Jilin Province, China.
Background: The apolipoprotein E ε4 (APOE ε4) status has a controversial role in predicting Alzheimer's disease (AD) factors. This meta-analysis assessed AD event risk in patients with APOE ε4 status.
Materials And Methods: The relevant English-language articles were identified by searching the Cochrane Library, EMBASE, and PubMed databases.
Want AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!