Molecular biology techniques have provided important advances in the search for causal relationships in complex diseases supporting traditional epidemiologic studies. Genetic epidemiology allows us to detect genetic variants that could be related to the onset and progression of different diseases. In cardiovascular and renal diseases, this approach linking traditional risk factors to new described ones and those allelic variants, which contribute to the development of these manifestations permits a better understanding of individual disease susceptibility. This is usually afforded through case-control studies evaluating allelic variants of candidate genes previously associated with the disease. Even in this candidate gene search, association-based methods are more powerful than linkage studies in complex traits if we assume that some of the typed polymorphisms are causative although with subtle phenotypic effects. Some brief examples may illustrate the progress in the understanding of renal and cardiovascular diseases.
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Mol Divers
January 2025
Center of Bioinformatics, College of Life Sciences, Northwest Agriculture and Forestry University, Yangling, 712100, Shaanxi, China.
Melanoma, a highly aggressive skin cancer, remains a significant cause of mortality despite advancements in therapeutic strategies. There is an urgent demand for developing vaccines that can elicit strong and comprehensive immune responses against this malignancy. Achieving this goal is crucial to enhance the efficacy of immunological defense mechanisms in combating this disease.
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January 2025
Department of Biophysics, Panjab University, Chandigarh, 160014, India.
Alzheimer's disease (AD) is a degenerative neurological disorder defined by the formation of β-amyloid (Aβ) plaques and neurofibrillary tangles within the brain. Current pharmacological treatments for AD only provide symptomatic relief, and there is a lack of definitive disease-modifying therapies. Chemical chaperones, such as 4-Phenylbutyric acid (4PBA) and Tauroursodeoxycholic acid, have shown neuroprotective effects in animal and cell culture models.
View Article and Find Full Text PDFLife Metab
December 2024
State Key Laboratory of Holistic Integrative Management of Gastrointestinal Cancers and Xijing Hospital of Digestive Diseases, Air Force Medical University, Xi'an, Shaanxi 710032, China.
Metabolic dysfunction-associated steatohepatitis (MASH) is one of the most common chronic liver diseases and is mainly caused by metabolic disorders and systemic inflammatory responses. Recent studies have indicated that the activation of the mammalian (or mechanistic) target of rapamycin (mTOR) signaling participates in MASH progression by facilitating lipogenesis and regulating the immune microenvironment. Although several molecular medicines have been demonstrated to inhibit the phosphorylation or activation of mTOR, their poor specificity and side effects limit their clinical application in MASH treatment.
View Article and Find Full Text PDFOpen Forum Infect Dis
January 2025
HIV and STD Unit, Infectious Diseases Department, Bellvitge University Hospital/Bellvitge Biomedical Research Institute, L'Hospitalet de Llobregat, Barcelona, Spain.
Background: This study was conducted to evaluate screening procedures for anal high-grade squamous intraepithelial lesions (HSILs) with anal liquid-based cytology (aLBC) and biomarkers to identify candidates for high-resolution anoscopy (HRA).
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Eur Heart J Case Rep
January 2025
Tehran Heart Center, Cardiovascular Diseases Research Institute, Tehran University of Medical Sciences, North Kargar Ave, Tehran 1411713138, Iran.
Background: Since the transcatheter valve-in-valve (ViV) procedure was introduced in 2007, a few cases of infective endocarditis (IE) following the ViV procedure have been reported, which can be predisposed by older age, pre-existing medical conditions, and procedural techniques. Paravalvular abscesses constitute a rare complication of IE, resulting from extending IE beyond the valve annulus, less commonly caused by species. This complication is more common in prosthetic valves, particularly bioprosthetic valves.
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