Biology subjects

Colombo, C.

Publications and source records attributed to Colombo, C..

6 recordsLinked to original sources

bioRxiv2026

Active Surveillance Reveals a Systemic Pro-Resolving Th2 Immune Program Linked to 1 Desmoid Tumor Regression

Desmoid fibromatosis (DF) is a rare mesenchymal neoplasm with an unpredictable clinical course, where spontaneous regression or progression occurs in a significant subset of patients through largely undefined mechanisms. The use of active surveillance (AS) offers the opportunity to investigate whether tumor- or host-driven systemic and local immune features may explain these divergent outcomes, improving patient management. A prospective observational study enrolled 55 patients with primary sporadic DF managed with AS. Clinical evolution was categorized as progression, regression, or stable disease according to RECIST 1.1. Immunomonitoring with multicolor flow cytometry identified distinct systemic T-helper polarization states stratifying clinical trajectories: regressors showed a Th2-skewed profile, while progressors displayed activated T-helper cells and Th1/Th9/Th17 subsets. Higher baseline Th2 levels associated with regression and longer progression-free survival. Plasma proteomic and whole-blood transcriptomic analyses confirmed coordinated IL-4/IL-13-linked pro-resolving programs in regressors and inflammatory, early T-cell activation signatures in progressors. Tumor transcriptomics revealed adaptive, antigen-presentation and restrained immune programs in regressing lesions versus innate inflammatory, interferon and TGF-{beta}-driven fibrotic pathways in progressing tumors. These findings identify systemic T-helper polarization as a biomarker of DF behavior and highlight coordinated systemic-tumoral immune programs underlying clinical outcomes, supporting more precise clinical management.

immunology↗

bioRxiv2025

Rational Expectations and Kinematic Information in Coordination Games

Successful coordination often requires integrating strategic reasoning with real-time observations of others actions, yet how humans resolve conflicts between these information sources remains unclear. This study aimed to fill this gap by examining how people coordinate in a strategic game when observing partial kinematic information from their partners actions. Participants played a HI-LO game with a virtual partner, choosing payoffs based on grasping movements toward invisible large and small targets. Hand movements were presented as schematic animations, with partners grasping targets linked to higher or lower payoffs across two configurations. Participants relied exclusively on kinematic cues from hand shape changes in maximum grip aperture to infer their partners choices. There were two main findings. While participants preferred higher payoffs consistent with rational game-theoretic expectations, reliable kinematic cues overrode these expectations. When early grip aperture changes indicated the partner was reaching for a large target associated with a lower payoff, participants abandoned their default preference for higher payoffs. They chose the lower option instead, achieving a high coordination success rate. These findings demonstrate that people prioritize kinematic cues about others choices over theoretical assumptions about rational behavior when coordinating. This suggests that movement-based inferences about others actions in natural social interactions may be weighted more heavily than strategic reasoning when the two sources of information conflict.

neuroscience↗

bioRxiv2025

First chromosome scale genome of Acrocomia aculeata

The Arecaceae family comprises economically, and ecologically significant palm species widely distributed across tropical and subtropical regions. Among them, Acrocomia aculeata, commonly known as Macauba, has gained attention due to its high oil yield, environmental adaptability, and potential applications in sustainable agriculture and bioenergy production. This study presents the first chromosome scale genome assembly of A. aculeata and the first reference genome of the genus, using Oxford Nanopore Technologies sequencing, PacBio HiFi and Hi-C proximity ligation data. The genome covers 1.94 Gbp in the 15 pseudochromosomes, with N50 of 143.43 Mbp, achieving a base quality (QV) of 76.4 and a k-mer completeness of 90.58% of PacBio HiFi data, with k=21. Interspersed repetitive regions represent 77.36% of the total genome, with long terminal repeat (LTRs) accounting for 54.98%. A total of 28.215 protein-coding genes were predicted. The genome was validated with BUSCO, achieving a completeness of 98.9% for predicted proteins. The first chromosome scale genome of Macauba provide new insights and breakthroughs for studies of conservation genomics and plant breeding programs.

genomics↗

bioRxiv2022

Post-vaccination Omicron infections induce broader immunity across antigenic space than prototype mRNA COVID-19 booster vaccination or primary infection

The rapid emergence of new SARS-CoV-2 variants challenges vaccination strategies. Here, we measured antigenic diversity among variants and interpreted neutralizing antibody responses following single and multiple exposures in longitudinal infection and vaccine cohorts. Antigenic cartography using primary infection antisera showed that BA.2, BA.4/BA.5, and BA.2.12.1 are distinct from BA.1 and closer to the Beta cluster. Three doses of an mRNA COVID-19 vaccine increased breadth to BA.1 more than to BA.4/BA.5 or BA.2.12.1. Omicron BA.1 post-vaccination infection elicited antibody landscapes characterized by broader immunity across antigenic space than three doses alone, although with less breadth than expected to BA.2.12.1 and BA.4/BA.5. Those with Omicron BA.1 infection after two or three vaccinations had similar neutralizing titer magnitude and antigenic breadth. Accounting for antigenic differences among variants of concern when interpreting neutralizing antibody titers aids understanding of complex patterns in humoral immunity and informs selection of future COVID-19 vaccine strains.

microbiology↗

bioRxiv2020

The persistence of Nontypeable Haemophilus influenzae fuels airway inflammation

*Nontypeable Haemophilus influenzae (NTHi) is commonly isolated from airway of cystic fibrosis (CF) patients. However, to what extent NTHi persistence contributes to the lung inflammatory burden during CF chronic airway disease is controversial. Here, we aimed at determining the pathological role of NTHi persistence in a cohort of CF patients and in a newly generated mouse model of NTHi persistence. In our study cohort, we found that CF patients chronically colonized by NTHi had significantly higher levels of IL-8 and CXCL1 than those who were not colonized. To better define the impact of NTHi persistence in fuelling inflammatory response, we developed a new mouse model using both laboratory and CF clinical strains. NTHi persistence was associated with chronic inflammation of the lung, characterized by recruitment of neutrophils and cytokine release (KC, G-CFS, IL-6 and IL-17A) at 2 and 14 days postinfection. An increased burden of T cell mediated response (CD4+ and {gamma}{delta} cells) and higher levels of matrix metalloproteinase 9, known to be associated with tissue remodelling, were observed at 14 days post-infection. Of note we found that both CD4+IL-17+ cells and levels of IL-17 cytokine were enriched in mice at advanced stage of NTHi chronic infection. Moreover, by immunohistochemistry we found CD3+, B220+ and CXCL-13+ cells localized in bronchus-associated lymphoid tissue-like structures at day 14. Our results demonstrate that NTHi persistence exerts a pro-inflammatory activity in the human and murine lung, and could therefore contribute to the exaggerated burden of lung inflammation in CF patients.

microbiology↗

bioRxiv2017

Canvas SPW: Calling De Novo Copy Number Variants In Pedigrees

MotivationWhole genome sequencing is becoming a diagnostics of choice for the identification of rare inherited and de novo copy number variants in families with various pediatric and late-onset genetic diseases. However, joint variant calling in pedigrees is hampered by the complexity of consensus breakpoint alignment across samples within an arbitrary pedigree structure.\n\nResultsWe have developed a new tool, Canvas SPW, for the identification of inherited and de novo copy number variants from pedigree sequencing data. Canvas SPW supports a number of family structures and provides a wide range of scoring and filtering options to automate and streamline identification of de novo variants.\n\nAvailabilityCanvas SPW is available for download from https://github.com/Illumina/canvas.\n\nContactsivakhno@illumina.com\n\nSupplementary informationSupplementary data are available at Bioinformatics online.

bioinformatics↗