Archivio istituzionale della ricerca - Università dell'Insubria
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A Systems Biology Approach for Prioritizing ASD Genes in Large or Noisy Datasets
Get PDFAutism spectrum disorder (ASD) is a complex multifactorial neurodevelopmental disorder. Despite extensive research involving genome-wide association studies, copy number variant (CNV) testing, and genome sequencing, the comprehensive genetic landscape remains incomplete. In this context, we developed a systems biology approach to prioritize genes associated with ASD and uncover potential new candidates. A Protein–Protein Interaction (PPI) network was generated from genes associated to ASD in a public database. Leveraging gene topological properties, particularly betweenness centrality, we prioritized genes and unveiled potential novel candidates (e.g., CDC5L, RYBP, and MEOX2). To test this approach, a list of genes within CNVs of unknown significance, identified through array comparative genomic hybridization analysis in 135 ASD patients, was mapped onto the PPI network. A prioritized gene list was obtained through ranking by betweenness centrality score. Intriguingly, by over-representation analysis, significant enrichments emerged in pathways not strictly linked to ASD, including ubiquitin-mediated proteolysis and cannabinoid receptor signaling, suggesting their potential perturbation in ASD. Our systems biology approach provides a promising strategy for identifying ASD risk genes, especially in large and noisy datasets, and contributes to a deeper understanding of the disorder’s complex genetic basis
Functional ecology of plant communities as a guide for vegetation management
Get PDFPlant functional traits determine how individual plants cope with varying environmental conditions, and extensive literature supports their role in influencing ecosystem properties. The study of plant functional traits could help the prediction of species responses to disturbances and environmental change, thus providing invaluable knowledge to refine conservation strategies of species and vegetation. However, applications of functional ecology for vegetation management are still underrepresented.
The articles in this Special Issue of FLORA offer cutting-edge insights on the variation of plant traits and ecological strategies in response to environmental drivers, such as anthropogenic disturbance, climate and land use change. The results demonstrate how trait-based approaches can be used for the prediction of climate and land use change impacts on vulnerable sets of species or on biogeochemical cycles, reinforcing the concept that functional plant ecology can help identify the most effective procedures for vegetation management, such as the choice of mowing intensity in grasslands or planning vegetation recovery after wildfires.
Our knowledge of plant trait coordination at the community level is still undefined, especially concerning the integration of above- and belowground traits. This represents a missed opportunity for vegetation management, especially considering that a complete understanding of the dynamics of the entire ecosystem is crucial for complete understanding of ecosystem properties. Since plant functional traits can represent a straightforward tool for monitoring changes in ecosystem structure and functions, their use could support vegetation monitoring as required by different programs of nature conservation. It would be useful to embrace a perspective that integrates plant traits with systematic conservation planning, ensuring effective and sustainable conservation efforts
America's Greatest Rock Critic: A Corpus Stylistics Investigation on Lester Bangs's Texts
No full textA comparative analysis of tumor markers reveals EDA fibronectin as a promising target in high-grade serous ovarian cancer
No full textBackground: Ovarian cancer remains a major clinical challenge with more than 40.000 annual deaths in Europe and in the United States, highlighting the need for better diagnostic and therapeutic strategies. This study first presents an immunohistochemical evaluation of the extra-domains A and B containing fibronectin (EDA-FN, EDB-FN), fibroblast activation protein (FAP), and carcinoembryonic antigen (CEA) in ovarian cancer specimens. Based on the initial results, the analysis was subsequently expanded to provide a comprehensive assessment of EDA-FN expression in human epithelial ovarian cancer tissue samples. Methods: An initial exploratory immunohistochemical analysis was performed on 60 formalin fixed paraffin embedded (FFPE) epithelial ovarian cancer (EOC) tissue sections from 47 patients, including 47 specimens collected at first diagnosis and 13 matched relapsed lesions. Tissue sections were stained using previously validated antibodies specific to EDA-FN, EDB-FN, FAP and CEA, to evaluate the stromal immunoreactive score (sIRS Part 1). Following the completion of Part 1, the study was expanded to specifically analyze the most abundant antigen found (EDA-FN) on 204 FFPE High Grade Serous ovarian cancer (HGSOC) tissue samples from 102 subjects, including primary and metastatic sites from the same patient (Part 2). Results: In Part 1, stromal expression of EDA-FN, EDB-FN and FAP was observed in epithelial ovarian cancer with no significant differences between matched primary and relapse tumor tissues. CEA was exclusively found in mucinous ovarian cancer (MOC). EDA-FN was the most abundant antigen among the ones investigated, prompting a deeper investigation in Part 2. In the expanded EOC cohort, EDA-FN remained highly abundant across all molecular subgroups (HRp, HRd/BRCAwt, and BRCAmut) and clinical subgroups (naïve vs. pretreated patients), but was found at elevated level in metastases compared to the corresponding primary tumors. Conclusions: These findings highlight that EDA-FN is an excellent target for HGSOC, while CEA could serve as a potential target for MOC. Clinical investigations are warranted to evaluate innovative treatments in ovarian cancer targeting these antigens
Peritonectomy procedures for peritoneal surface malignancies: PSOGI-ESGO-ISSPP Lyon consensus
No full textBackground The nomenclature and execution of peritonectomy procedures for peritoneal surface malignancies significantly vary between surgeons and centres. The aim of this consensus was to reach uniform nomenclature for peritonectomy procedures, to define subregions of each peritonectomy procedure, and to define boundaries of each subregion. Methods The modified Delphi technique was employed. A group of experts elaborated on the initial classification of six peritonectomy procedures. They added newer and ancillary peritonectomy procedures and defined boundaries of each procedure. Then a panel of surgeons with expertise in cytoreductive surgery voted on questions in two rounds. Consensus was reached if an option received >75% of the votes. Results Of 112 surgeons invited, 107 (95.5%) and 101 (90.1%) voted in round I and round II respectively. Consensus was reached on 207 of 211 questions (98.1%), including all of the questions related to the subdivisions of peritonectomy procedures and the boundaries of each peritonectomy procedure. The four questions on which consensus was not reached were related to the 'most appropriate term' for specific peritonectomy procedures. A reporting form was devised to document the extent of peritonectomy. Conclusion This consensus successfully devised a revised nomenclature for peritonectomy procedures. The reporting format is an important tool for research on the extent of peritoneal resection required for treatment of peritoneal surface malignancies
A Proposal for the Sustainable Enhancement of the Cultural and Social Heritage of the Alps: The Project “La Montagna al Femminile”
No full textTechnical review by the ESPGHAN special interest group on gut microbiota and modifications on the health outcomes of infant formula supplemented with manufactured human milk oligosaccharides
No full textThis technical review, one of five developed by the European Society for Pediatric Gastroenterology Hepatology and Nutrition (ESPGHAN) special interest group (SIG) on gut microbiota and modifications (GMM), supports the creation of a position paper on the use of biotic-supplemented formulas, including those containing human milk oligosaccharides (HMOs) produced through chemical synthesis or microbial biotechnology. Though these oligosaccharides are identical to the HMOs found in human milk, they do not originate from it. Therefore, we used human-identical milk oligosaccharides (HiMOs). This review focuses on the clinical outcomes related to the supplementation of infant formulas with these HiMOs. The ESPGHAN SIG-GMM conducted a systematic review to evaluate the clinical outcomes of HiMO-supplemented infant formulas in healthy infants (0–12 months) published before 2024. Six RCTs and two mechanistic substudies met the inclusion criteria and investigated different combinations of HiMOs added to the formula. The HiMOs studied so far show no difference compared to the control formula in outcomes such as: anthropometric data, regurgitation-related symptoms, crying, fussiness, or colic. A specific combination of five HMO-analogues (2′fucosyllactose [FL], 3-FL, lacto-N-tetraose [LNT], 3′-sialyllactose [SL], and 6′-SL) suggest a softer stool consistency and more frequent defecation in presumable healthy infants, but these studies also used the highest amount of HiMOs; however, the clinical relevance of this finding remains uncertain. Regarding infection prevention, no clear conclusion can be drawn. There was no difference in tolerability and no safety concerns were raised with the HiMO studied so far. This technical report serves as the background for formulating recommendations on the use of HiMOs-supplemented infant formula in healthy infants studied so far
La prima volta al WLIC (World Library and Information Congress)
No full textRendiconto dell'esperienza bibliotecaria all'89° IFLA World Library and Information Congress (WLIC) "Uniting Knowledge, Building the Future", tenutosi ad Astana (Kazakhstan) dal 18 al 21 agosto 2025