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Increased interferon I signaling, DNA damage response and evidence of T-cell exhaustion in a patient with combined interferonopathy (Aicardi-Goutières Syndrome, AGS) and cohesinopathy (Cornelia de Lange Syndrome, CdLS).
Pediatr Rheumatol Online J
January 2025
Laboratory of Autoimmunity and Inflammation, Center for Clinical, Biomedical Research Foundation, Experimental Surgery and Translational Research, Academy of Athens, Athens, Greece.
Background: Type I interferonopathies including Aicardi-Goutiéres Syndrome (AGS) represent a heterogeneous group of clinical phenotypes. Herein, we present a Case with combined AGS and Cornelia de Lange Syndrome (CdLS)-a cohesinopathy-with comprehensive analysis of the immune and genomic abnormalities.
Case And Methods: A 20-year old man presented with chilblain lesions and resorption of distal phalanges of fingers and toes, somatic and psychomotor retardation, microcephaly, synophrys, hearing losing and other aberrancies consistent with the phenotype of CdLS.
Spiral and helical formation of passive and active polymers with stiffness heterogeneity in a spherical cavity.
Soft Matter
January 2025
College of Chemistry, Sichuan University, Chengdu 610064, China.
Biomolecules usually adopt ubiquitous circular structures which are important for their functionality. Based on three-dimensional Langevin dynamics simulations, we investigate the conformational change of a polymer confined in a spherical cavity. Both passive and active polymers with either homogeneous or heterogeneous stiffness are analyzed in a comparative manner.
View Article and Find Full Text PDFEngineered ipilimumab variants that bind human and mouse CTLA-4.
MAbs
December 2025
Biotherapeutics and Genetic Medicine, AbbVie, South San Francisco, CA, USA.
Testing of candidate monoclonal antibody therapeutics in preclinical models is an essential step in drug development. Identification of antibody therapeutic candidates that bind their human targets and cross-react to mouse orthologs is often challenging, especially for targets with low sequence homology. In such cases, surrogate antibodies that bind mouse orthologs must be used.
View Article and Find Full Text PDFNatural history of the hyperdominant tree, Pentaclethra macroloba (Willd.) Kuntze, in the Amazon River estuary.
Braz J Biol
January 2025
Instituto Nacional de Pesquisas da Amazônia - INPA, Programa de Pós-graduação em Ecologia - PPGEco, Manaus, AM, Brasil.
Pentaclethra macroloba is a hyperdominant species with multiple uses in the Amazon. This species tolerates varying flood amplitudes, however the effect of flood topographic gradient on its ecophysiology remains unclear. We want to know if individuals from the high (10 trees) and low (20 trees) várzea show distinct phenological patterns as a function of the flood gradient, as well as their colonization strategies and their seed predators.
View Article and Find Full Text PDFPatterns of Weight Change Trajectories and Treatment Response in an Integrated Adult Primary Care Weight Management Practice.
Obes Sci Pract
February 2025
Division of General Internal Medicine Weill Cornell Medicine New York New York USA.
Introduction: Given the significant interindividual variable responses to interventions for obesity, the early identification of factors associated with a differential in weight loss would benefit real-world approaches in clinical practice.
Objective: This study evaluated the factors associated with individual variability in response to enrolling in a weight management program integrated into an academic-based primary care practice.
Methods: Data were retrospectively collected and analyzed for patients referred to a primary care-based weight management practice between 2012 and 2020.
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