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BMC Rheumatol
January 2025
Montefiore Medical Center, Albert Einstein College of Medicine, Rheumatology, Bronx, NY, USA.
Background: The anti-melanoma differentiation-associated gene 5 (anti-MDA5) antibody-positive dermatomyositis is known for its association with rapidly progressive interstitial lung disease (RP-ILD) and ulcerative skin lesions, often presenting with or without muscle involvement. The aim of this study was to identify distinct clinical and laboratory features that could be used to evaluate disease progression in an ethnically diverse cohort of anti-MDA5 dermatomyositis patients at a U.S.
View Article and Find Full Text PDFGenome Med
January 2025
Laboratory of Cytogenetics and Genome Research, Centre for Human Genetics, KU Leuven, Leuven, 3000, Belgium.
Background: A subset of developmental disorders (DD) is characterized by disease-specific genome-wide methylation changes. These episignatures inform on the underlying pathogenic mechanisms and can be used to assess the pathogenicity of genomic variants as well as confirm clinical diagnoses. Currently, the detection of these episignature requires the use of indirect methylation profiling methodologies.
View Article and Find Full Text PDFInt J Retina Vitreous
January 2025
Fondation Asile des Aveugles, Department of Ophthalmology, Jules-Gonin Eye Hospital, University of Lausanne, Avenue de France 54, Lausanne, 1001, Switzerland.
Background: This study evaluates the efficacy of intravitreal Faricimab in reducing pigment epithelium detachment (PED) and fluid volumes in both treatment-naïve eyes and eyes unresponsive to anti-VEGF mono-therapies, all diagnosed with type 1 macular neovascularization (T1 MNV) over a period of 12-month.
Methods: A retrospective, single-center cohort study was conducted at the Jules Gonin Eye Hospital, Lausanne, Switzerland. Clinical records of treatment-naïve and non-responder switch patients presenting T1 MNV secondary to neovascular age-related macular degeneration (nAMD) from September 2022 to March 2023 were reviewed.
Virol J
January 2025
Department of Hematology, Zhongnan Hospital of Wuhan University, Wuhan, 430071, China.
Background: Neutropenia frequently presents as a hematological manifestation among people living with HIV/AIDS (PLWHA). This study explores the factors associated with neutropenia in PLWHA and its prognostic significance.
Methods: We conducted a retrospective case-control study of the clinical data from 780 cases of individuals living with HIV/AIDS, who were admitted to Zhongnan Hospital of Wuhan University over the period from January 2016 to September 2020.
Alzheimers Res Ther
January 2025
Laboratory for Clinical Neuroscience, Center for Biomedical Technology, Universidad Politécnica de Madrid, IdISSC, Crta M40, km38, Madrid, 28223, Spain.
Background: Dementia patients commonly present multiple neuropathologies, worsening cognitive function, yet structural neuroimaging signatures of dementia have not been positioned in the context of combined pathology. In this study, we implemented an MRI voxel-based approach to explore combined and independent effects of dementia pathologies on grey and white matter structural changes.
Methods: In 91 amnestic dementia patients with post-mortem brain donation, grey matter density and white matter hyperintensity (WMH) burdens were obtained from pre-mortem MRI and analyzed in relation to Alzheimer's, vascular, Lewy body, TDP-43, and hippocampal sclerosis (HS) pathologies.
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