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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.

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Objectives: This study aims to estimate the impact of the co-occurrence of behavioural risk factors on mortality in the Spanish adult population.

Design: Population-based cohort study based on data from the 2011-2012 Spanish National Health Survey and the 2014 European Health Survey (n=35 053 participants ≥15 years of age) both linked to mortality data as of December 2022. Risk factors included tobacco use, high-risk alcohol consumption, low adherence to the Mediterranean diet, leisure time sedentary lifestyle and body mass index outside the 18.

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Objective: To develop and validate a prognostic model for risk-stratified monitoring of 5-aminosalicylate nephrotoxicity.

Methods: This UK retrospective cohort study used data from the Clinical Practice Research Datalink Aurum and Gold for model development and validation respectively. It included adults newly diagnosed with inflammatory bowel disease and established on 5-aminosalicylic acid (5-ASA) treatment between 1 January 2007 and 31 December 2019.

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Background: Adenoid cystic carcinoma (ACC) is a rare malignant tumor that accounts for <1 % of head and neck malignancies, with an estimated involvement of the tongue at approximately 3 %.

Case Presentation: This report presents a case of a 42-year-old male with no significant history of tobacco or alcohol use, who developed a painless, progressively enlarging mass on the ventral surface of his tongue over the course of eight months. Initial surgical resection confirmed the diagnosis of ACC, which necessitated a right hemiglossectomy followed by radiotherapy to address potential residual disease.

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Quantifying natural amyloid plaque accumulation in the continuum of Alzheimer's disease using ADNI.

J Pharmacokinet Pharmacodyn

January 2025

Global PK/PD/PMx, Eli Lilly and Company, 8 Arlington Square West, Downshire Way, Bracknell, Berkshire, RG12 1PU, UK.

Brain amyloid beta neuritic plaque accumulation is associated with an increased risk of progression to Alzheimer's disease (AD) [Pfeil, J., et al. in Neurobiol Aging 106: 119-129, 2021].

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