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Antibody response to Plasmodium vivax in the context of Epstein-Barr virus (EBV) co-infection: A 14-year follow-up study in the Amazon rainforest.
PLoS One
January 2025
Instituto René Rachou, Fiocruz Minas, Fundação Oswaldo Cruz (Fiocruz), Belo Horizonte, Minas Gerais, Brazil.
Background: To develop an effective vaccine against Plasmodium vivax, the most widely dispersed human malaria parasite, it is critical to understand how coinfections with other pathogens could impact malaria-specific immune response. A recent conceptual study proposed that Epstein-Barr virus (EBV), a highly prevalent human herpesvirus that establishes lifelong persistent infection, may influence P. vivax antibody responses.
View Article and Find Full Text PDFThe novel p.A30G SNCA pathogenic variant in Greek patients with familial and sporadic Parkinson's disease.
Eur J Neurol
February 2025
1st Department of Neurology, Eginition Hospital, National and Kapodistrian University of Athens, Athens, Greece.
Background: The p.A53T variant in the SNCA gene was considered, until recently, to be the only SNCA variant causing familial Parkinson's disease (PD) in the Greek population. We identified a novel heterozygous p.
View Article and Find Full Text PDFEpigenetic modulation rescues neurodevelopmental deficits in Syngap1 mice.
Aging Cell
January 2025
Molecular Biology and Genetics Unit, Transcription and Disease Laboratory, Jawaharlal Nehru Centre for Advanced Scientific Research, Bengaluru, India.
SYNGAP1 is a Ras GTPase-activating protein that plays a crucial role during brain development and in synaptic plasticity. Sporadic heterozygous mutations in SYNGAP1 affect social and emotional behaviour observed in intellectual disability (ID) and autism spectrum disorder (ASD). Although neurophysiological deficits have been extensively studied, the epigenetic landscape of SYNGAP1 mutation-mediated intellectual disability is unexplored.
View Article and Find Full Text PDF[Development of prognostic clinical and genetic models of the risk of low bone mineral density using neural network training].
Probl Endokrinol (Mosk)
January 2024
Background: Osteoporosis is a common age-related disease with disabling consequences, the early diagnosis of which is difficult due to its long and hidden course, which often leads to diagnosis only after a fracture. In this regard, great expectations are placed on advanced developments in machine learning technologies aimed at predicting osteoporosis at an early stage of development, including the use of large data sets containing information on genetic and clinical predictors of the disease. Nevertheless, the inclusion of DNA markers in prediction models is fraught with a number of difficulties due to the complex polygenic and heterogeneous nature of the disease.
View Article and Find Full Text PDFSterile osteomyelitis: a cardinal sign of autoinflammation.
Reumatologia
December 2024
Department of Internal Medicine, Trofa Saúde Hospital Privado em Gaia, Vila Nova de Gaia, Portugal.
Autoinflammatory bone disorders (ABDs) are characterized by sterile bone inflammation stemming from dysregulated innate immune responses. This review focuses on the occurrence of sterile osteomyelitis in ABDs and related diseases, notably chronic nonbacterial osteomyelitis (CNO) and its sporadic and monogenic forms, such as deficiency of the interleukin-1 (IL-1) receptor antagonist, Majeed syndrome, CNO related to mutation, and pyogenic arthritis, pyoderma gangrenosum, and acne (PAPA syndrome). Additionally, other autoinflammatory disorders (AIDs) are discussed, including classical periodic fever syndromes (e.
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