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2. Two Novel Variants in the CHRNA2 and SCN2A Genes in Italian Patients with Febrile Seizures.

Author

Procopio, Radha, Gagliardi, Monica, Talarico, Mariagrazia, Fortunato, Francesco, Sammarra, Ilaria, Procopio, Anna Caterina, Roncada, Paola, Malanga, Donatella, Annesi, Grazia, and Gambardella, Antonio

Subjects
NICOTINIC acetylcholine receptors, FEBRILE seizures, SODIUM channels, CHILDHOOD epilepsy, CHILDREN with epilepsy, LEUCINE
Abstract

Background: Febrile seizures (FSs) are the most common form of epilepsy in children aged between six months and five years. The exact cause is unknown, but several studies have demonstrated the importance of genetic predisposition, with increasing involvement of receptors and ion channels. The present study aims to identify novel pathogenic variants in Italian patients with FSs. Methods: We performed targeted panel sequencing in a cohort of 21 patients with FSs. In silico analysis was performed to predict the pathogenic role of the resulting variants. Results: We found two novel variants segregating in two families with FSs: c.1021C>G (p.Leu341Val) in the CHRNA2 gene and c.140A>G (p.Glu47Gly) in SCN2A. Conclusions: The c.1021C>G (p.Leu341Val) variant leads to a codon change of highly conserved leucine to valine at position 341 and is located in segments M3 of the subunit, which is important for channel gating. The c.140A>G (p.Glu47Gly) variant causes a substitution of glutamic acid with glycine at position 47 of the protein, which is highly conserved across the species. Moreover, it is located in the N-terminal domain, a region commonly affected in ASD, which impacts the inactivation kinetics and voltage dependence of steady-state activation. Further analyses are needed to better explain the role of CHRNA2 and SCN2A in the development of febrile seizures. [ABSTRACT FROM AUTHOR]

Published
2024
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4. Onion Polyphenols as Multi-Target-Directed Ligands in MASLD: A Preliminary Molecular Docking Study.

Author

Paravati, Maria Rosaria, Procopio, Anna Caterina, Milanović, Maja, Scarlata, Giuseppe Guido Maria, Milošević, Nataša, Ružić, Maja, Milić, Nataša, and Abenavoli, Ludovico

Abstract

A sedentary lifestyle associated with unregulated diets rich in high-calorie foods have contributed to the great prevalence of metabolic dysfunction-associated steatotic liver disease (MASLD) latterly, with up to 60% in the high-risk population and 25% in the general population. The absence of specific pharmacological strategies for this syndrome represents one of the major problems in the management of MASLD patients. Lifestyle interventions and adherence to a healthy diet are the main cornerstones of current therapies. The identification of nutraceuticals useful in the treatment of MASLD appears to be one of the most promising strategies for the development of new effective and safe treatments for this disease. The onion, one of the most widely studied foods in the field of nutraceuticals, serves as an inexhaustible reservoir of potent compounds with various beneficial effects. The following preliminary study analyzes, mediating in silico studies, the iteration of a library of typical onion compounds with 3-hydroxy-3-methylglutaryl-coenzyme A reductase, liver receptors X α and β, as well as peroxisome proliferator-activated receptors α and γ. In this study, for the first time promising smart molecules from the onion that could have a beneficial action in MASLD patients were identified. [ABSTRACT FROM AUTHOR]

Published
2024
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5. Liver Damage and Impaired Coagulation in COVID-19 Patients: A Case Series

Author

Abenavoli, Ludovico, primary, Aquila, Isabella, additional, Sacco, Matteo Antonio, additional, Scarlata, Giuseppe Guido Maria, additional, Procopio, Anna Caterina, additional, Boccuto, Luigi, additional, Scarpellini, Emidio, additional, Greco, Marta, additional, Foti, Daniela Patrizia, additional, Ricci, Pietrantonio, additional, and Luzza, Francesco, additional

Published
2023
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8. Nutritional Support in Acute Liver Failure

Author

Abenavoli, Ludovico, primary, Maurizi, Valentina, additional, Boccuto, Luigi, additional, Di Berardino, Arianna, additional, Giostra, Nena, additional, Santori, Pierangelo, additional, Scarcella, Maria Laura, additional, Procopio, Anna Caterina, additional, Rasetti, Carlo, additional, and Scarpellini, Emidio, additional

Published
2022
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9. Fecal Microbiota Transplantation in NAFLD Treatment

Author

Abenavoli, Ludovico, primary, Maurizi, Valentina, additional, Rinninella, Emanuele, additional, Tack, Jan, additional, Di Berardino, Arianna, additional, Santori, Pierangelo, additional, Rasetti, Carlo, additional, Procopio, Anna Caterina, additional, Boccuto, Luigi, additional, and Scarpellini, Emidio, additional

Published
2022
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14. SARS-CoV-2 Spread Dynamics in Italy: The Calabria Experience

Author

Abenavoli, Ludovico, primary, Cinaglia, Pietro, additional, Procopio, Anna Caterina, additional, Serra, Raffaele, additional, Aquila, Isabella, additional, Zanza, Christian, additional, Longhitano, Yaroslava, additional, Artico, Marco, additional, Larussa, Tiziana, additional, Boccuto, Luigi, additional, Ricci, Pietrantonio, additional, and Luzza, Francesco, additional

Published
2021
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15. Primary Biliary Cholangitis and Bile Acid Farnesoid X Receptor Agonists

Author

Abenavoli, L, Procopio, A, Fagoonee, S, Pellicano, R, Carbone, M, Luzza, F, Invernizzi, P, Abenavoli, Ludovico, Procopio, Anna Caterina, Fagoonee, Sharmila, Pellicano, Rinaldo, Carbone, Marco, Luzza, Francesco, Invernizzi, Pietro, Abenavoli, L, Procopio, A, Fagoonee, S, Pellicano, R, Carbone, M, Luzza, F, Invernizzi, P, Abenavoli, Ludovico, Procopio, Anna Caterina, Fagoonee, Sharmila, Pellicano, Rinaldo, Carbone, Marco, Luzza, Francesco, and Invernizzi, Pietro

Abstract

Primary biliary cholangitis (PBC) is a chronic autoimmune liver disease characterized by the progressive destruction of the intrahepatic bile ducts. Currently, the first line drug for PBC is ursodeoxycholic acid (UDCA) characterized by anti-apoptotic, anti-inflammatory and protective actions on cholangiocytes. Despite its recognized therapeutic action, 30-40% of PBC patients only partially benefit from UDCA therapy. This has led to the identification of the role of the farnesoid x receptor (FXR) in cholestatic liver diseases and, consequently, to the development of obeticholic acid (OCA), a steroid FXR agonist that has been recently approved for the treatment of PBC. OCA though is not effective in all patients and can cause itch, which eventually induces treatment drop out. Therefore, the search for new therapeutic strategies for PBC has begun. This review, in addition to summarizing the current treatments for PBC, provides overview of the chemical characteristics of new steroid FXR agonist candidates that could represent a future perspective for the treatment of PBC.

Published
2020

16. Anxiety and Gastrointestinal Symptoms Related to COVID-19 during Italian Lockdown

Author

Abenavoli, Ludovico, primary, Cinaglia, Pietro, additional, Lombardo, Giuditta, additional, Boffoli, Eduardo, additional, Scida, Miriam, additional, Procopio, Anna Caterina, additional, Larussa, Tiziana, additional, Boccuto, Luigi, additional, Zanza, Christian, additional, Longhitano, Yaroslava, additional, Fagoonee, Sharmila, additional, and Luzza, Francesco, additional

Published
2021
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20. Light Alcohol Drinking and the Risk of Cancer Development: A Controversial Relationship

Author

Davide Ciardiello, Vincenzo De Falco, Anna Procopio, Erika Martinelli, Vincenzo Famiglietti, Carmelina Loguercio, Giuseppe Gerardo Caprio, Emilio Francesco Giunta, Ludovico Abenavoli, Alessandro Federico, Antonietta Gerarda Gravina, Fortunato Ciardiello, Pietro P. Vitiello, Desiree Picascia, Marcello Dallio, Caprio, Giuseppe Gerardo, Picascia, Desiree, Dallio, Marcello, Vitiello, Pietro Paolo, Giunta, Emilio Francesco, De Falco, Vincenzo, Abenavoli, Ludovico, Procopio, Anna Caterina, Famiglietti, Vincenzo, Martinelli, Erika, Gravina, Antonietta Gerarda, Federico, Alessandro, Ciardiello, Fortunato, Loguercio, Carmelina, and Ciardiello, Davide

Subjects
Oncology, Cell biology, medicine.medical_specialty, Alcohol Drinking, Global Health, medicine.disease_cause, Risk Assessment, 03 medical and health sciences, Prostate cancer, Cancer epidemiology, 0302 clinical medicine, Breast cancer, Risk Factors, Neoplasms, Internal medicine, Epidemiology of cancer, medicine, Humans, Alcohol consumption, Carcinogenesis, Risk factor, Cancer, 030304 developmental biology, Pharmacology, Public health, 0303 health sciences, business.industry, Incidence, General Medicine, medicine.disease, 030220 oncology & carcinogenesis, Ovarian cancer, business
Abstract

Background: In accordance with the scientific literature heavy alcohol consumption (>50g per day) represents a risk factor for several diseases development, including cancer. However, the oncogenic role of light alcohol drinking ( Objective: To assess the scientific knowledge about light alcohol consumption and the risk of malignancy onset. Methods: To collect the scientific evidences regarding this topic the keywords “light alcohol drinking”, “light alcohol consumption” and “cancer”, were used. Papers published during the last 15 years were analyzed, in order to select the most recent evidence. Meta-analyses with well-defined levels of alcohol intake were included in the present review. Other studies that focused on biochemical, molecular and genetic aspects, as well as duplicate articles, were excluded. : Furthermore, a possible protective role of light alcohol consumption on the development of bladder, kidney and ovarian cancer and Non Hodgkin Lymphoma was observed. Results: Twenty-nine large, meta-analyses were included in this review. Light alcohol drinking was not associated with an increased risk of cancer occurrence, with the exception of breast and prostate cancer and melanoma. Conclusion: Light alcohol drinking was not associated with the development of several malignancies, except for a light increase of melanoma, breast cancer in women and prostate cancer in men.

Published
2020
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