Andrea Bernini

Plasma and urinary NMR metabolic profiling of the phenylalanine-tyrosine pathway in nitisinone-treated alkaptonuria: comparison of two dosing regimens and identification of a candidate pharmacodynamic biomarker

Daniela Grasso, Valentina Balloni, Elena Bianchi, Andrea Mazzon et autres

Alkaptonuria is an ultra-rare autosomal recessive inborn error of metabolism caused by a deficiency of homogentisate 1,2-dioxygenase, leading to the systemic accumulation of homogentisate and progressive ochronotic deposition in connective tissues. Nitisinone, an inhibitor of 4-hydroxyphenylpyruvate dioxygenase, effectively reduces homogentisate production but …

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Mathematical Model to Assess Mutational Burden in Retinal Dystrophy Patients Negative to Mendelian Genetic Tests and Carriers of Multiple Recessive Variants

Maria Chiara Medori, Alessandro Macchia, Paolo Enrico Maltese, Ján Miertuš et autres

Purpose: Despite advancements in genetic testing, a significant number of patients with retinal dystrophy receive negative test results due to single-allele mutations in genes with autosomal recessive inheritance patterns. This study aimed to address this diagnostic challenge by proposing a preliminary mathematical …

P506 - LBA_ECE_1262 - Circulating metabolic profiling in severe obesity represents a new potential biomarker to predict weight loss after bariatric surgery

Chiara Lepri, Valentina Balloni, Arianna Propato, Giorgio Crocetti et autres

Abstract The global prevalence of severe obesity is exponentially increasing worldwide, representing one of the most serious and rapidly growing health problems, alongside with its comorbidities such as type 2 diabetes (T2DM) and cardiovascular disease (CVD). Bariatric surgery is the elective treatment …

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Exclusion of CLIC5 as a Candidate Gene and Identification of NEFM as a Possible Novel Gene Correlated With Autosomal Recessive Pure Cerebellar Ataxia in a Highly Consanguineous Family

Paolo Enrico Maltese, G Bonetti, Elena Manara, Benedetta Tanzi et autres

BACKGROUND: Pure cerebellar ataxia is a neurological disorder characterised by isolated cerebellar dysfunction, arising from either developmental anomalies or progressive degenerative processes. Precise genetic diagnosis remains challenging. METHODS: The aim of this study was to use a whole-exome sequencing approach to study …

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Serum Biomarkers in Bladder Cancer: NMR Metabolomics for Identification and Monitoring during Platinum-Based Therapy

Roberta Giorgione, Daniela Grasso, Elisabetta Gambale, Federico Scolari et autres

Objectives: To date, predictive and prognostic biomarkers for Bladder Cancer (BC) remain lacking. Existing literature underscores the potential of metabolomics as a valuable tool for biomarker identification. The primary objective of this study is to characterize the serum metabolic profile of BC …

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Th17-like cells and immunosuppressive macrophages infiltrate tertiary lymphoid structures with distinct maturation status in soft-tissue sarcoma

Petroni Giulia, F. Scolari, Guido Scoccianti, Annarita Palomba et autres

Abstract Tertiary lymphoid structures (TLSs) have been associated with favorable clinical outcome and improved responses to immune checkpoint inhibitors in soft-tissue sarcomas (STSs). However, due to their rarity and high heterogeneity, information regarding the mechanisms involved in TLS formation and contribution to …

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Metabolomics Plasma Biomarkers Associated with the HRD Phenotype in Ovarian Cancer

Alessandro Tubita, Claudia De Angelis, Daniela L. Grasso, Flavia Sorbi et autres

Background: Ovarian cancer (OC) remains one of the most lethal gynecologic malignancies due to its often-late diagnosis and complex molecular heterogeneity. Understanding the metabolic alterations in OC can provide insights into its pathophysiology and potential therapeutic targets. This study aimed to explore …

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Ochronotic Deposition in Alkaptonuria: Semiquinone-Mediated Oxidative Coupling and Metabolic Drivers of Homogentisic Acid Accumulation

Daniela L. Grasso, Valentina Balloni, Maria Camilla Baratto, Adele Mucci et autres

Alkaptonuria (AKU) is a rare metabolic disorder caused by homogentisate 1,2-dioxygenase (HGD) deficiency, leading to homogentisic acid (HGA) accumulation and ochronotic pigment deposition, which drug therapy cannot reverse. The process of pigment formation and deposition is still unclear. This study offers molecular …

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Untargeted Metabolomics and Liquid Biopsy Investigation of Circulating Biomarkers in Soft Tissue Sarcoma

Daniela L. Grasso, Barbara Marzocchi, Guido Scoccianti, Ilaria Palchetti et autres

BACKGROUND: Soft tissue sarcomas (STSs) are rare, highly malignant mesenchymal tumours, comprising approximately 1% of all adult cancers and about 15% of paediatric solid tumours. STSs exhibit considerable genomic complexity with diverse subtypes, posing significant clinical challenges. OBJECTIVES: This study aims to …

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Antioxidant Bio-Compounds from Chestnut Waste: A Value-Adding and Food Sustainability Strategy

Roberta Barletta, Alfonso Trezza, Andrea Bernini, Lia Millucci et autres

In an era of escalating environmental challenges, converting organic residues into high-value bioactive compounds provides a sustainable way to reduce waste and enhance resource efficiency. This study explores the potential of the circular bioeconomy through the valorization of agricultural byproducts, with a …

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Molecular Dynamics Simulations Suggest That Side-Chain Motions of Charged Amino Acids Determine Long-Range Effects in Proteins: An Egg of Coulomb

Neri Niccolai, Edoardo Morandi, Andrea Bernini

Living systems cannot rely on random intermolecular approaches toward cell crowding, and hidden mechanisms must be present to favor only those molecular interactions required explicitly by the biological function. Electromagnetic messaging among proteins is proposed from the observation that charged amino acids …

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Chapter 2: Layout, Design, Text-Image

Nikolaus Dietrich, Lisa Horstmann, Andrea Bernini, Susanne Börner et autres

A text can be spoken, heard, or even just thought.Its wording can be determined in detail down to the letter; or it can also be malleable.If the text is written down, its wording becomes fixed.While in our current digital age, writing down …