Alzheimer Disease (AD) is an age-related dementia that is going to assume the characteristics of a health emergency. A reliable diagnosis of AD, especially at the very onset, is complicated. Moreover, it is known that about 20% of patients in hospital for Alzheimer-type dementia have unusual clinical symptoms and sometimes a reliable diagnosis depends on post-mortem analysis of brain tissues. Recently, progress has been achieved in the field of genetic risk assessment in AD, and this article discusses the current widespread use of apolipoprotein E (APO E) genotyping as a tool for investigating epidemiologic risk factors for this devastating disease. APO E genotyping investigations have now moved from research laboratories to clinical laboratories, and therefore bioethical controversies are present, because of laboratory investigations of the patient's genome and the scientific uncertainties still existing. These controversies strongly suggest the need for genetic counseling. Herein we propose a model for multidimensional counseling provided by the Geriatric Assessment Unit (GAU), a multidisciplinary approach to counseling involving genetic, medical, social, psychological and medico-legal support. Multidimensional counseling may help patient and family decisions about health problems with the aim of improving the patient's information and knowledge, and ensuring informed consent in decisions concerning a disease associated with cognitive impairment.
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http://dx.doi.org/10.1016/s0167-4943(98)00017-x | DOI Listing |
Endocr Regul
January 2024
School of Nursing, Cape Breton University, Sydney, Nova Scotia, Canada.
Genes (Basel)
October 2024
Norwich Medical School, University of East Anglia, Norwich NR4 7TJ, UK.
Calcific aortic stenosis is the most prevalent valvular abnormality in the Western world. Factors commonly associated with calcific aortic stenosis include advanced age, male sex, hypertension, diabetes and impaired renal function. This review synthesises the existing literature on genetic associations with calcific aortic stenosis.
View Article and Find Full Text PDFAm J Cardiol
January 2025
Department of Cardiology, Koşuyolu Kartal Heart Training and Research Hospital, Istanbul, Türkiye; Division of Health Sciences, Ardahan University, Ardahan, Türkiye.
Prosthetic valve thrombosis (PVT) is a critical and life-threatening condition driven by multifactorial etiologies, including genetic predispositions. The study was designed as a single-center retrospective manner. Echocardiographic features and genetic test including factor II/prothrombin (G20210A), factor V Leiden (G1691A), factor V R2 (A4070G), apolipoprotein (Apo) B-100 (G10708A), ApoE (C112R), ApoE (R158C), methylenetetrahydrofolate reductase (MTHFR) C677T, MTHFR A1298C, factor XIII G103T (V34L), β-fibrinogen (455G>A), PAI-1 4G/5G, and HPA-1 GPIIIa (T196C) genotyping variations were assessed.
View Article and Find Full Text PDFBrain Behav
October 2024
Department of Neurology, The Affiliated People's Hospital of, Jiangsu University, Zhenjiang, Jiangsu, People's Republic of China.
Purpose: To explore the diagnostic value of serum apolipoprotein B100 (Apo B100) combined with hippocampal volume in Alzheimer's disease (AD).
Methods: A total of 59 AD patients and 59 healthy subjects were selected. The Mini-Mental State Examination (MMSE) was used for neuropsychological assessment.
Cardiovasc Diabetol
August 2024
Department of Preventive Cardiology and Lipidology, Medical University of Lodz, Lodz, Poland.
Background: Numerous observational studies have demonstrated that circulating lipoprotein(a) [Lp(a)] might be inversely related to the risk of type 2 diabetes (T2D). However, recent Mendelian randomization (MR) studies do not consistently support this association. The results of in vitro research suggest that high insulin concentrations can suppress Lp(a) levels by affecting apolipoprotein(a) [apo(a)] synthesis.
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