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JOURNAL ARTICLE
Tobias Krogh Nielsen, Ida Birkjær Petersen, Lijuan Xu, Maria Disen Barbuti, Viktor Mebus, Anni Justh, Abdulelah Ahmed Alqarzaee, Nicolas Jacques, Cécile Oury, Vinai Thomas, Morten Kjos, Camilla Henriksen, Dorte Frees
Infections caused by methicillin-resistant Staphylococcus aureus (MRSA) are a leading cause of mortality worldwide. MRSA has acquired resistance to next-generation β-lactam antibiotics through the horizontal acquisition of the mecA resistance gene. Development of high resistance is, however, often associated with additional mutations in a set of chromosomal core genes, known as potentiators, which, through poorly described mechanisms, enhance resistance. The yjbH gene was recently identified as a hot spot for adaptive mutations during severe infections...
May 1, 2024: Antimicrobial Agents and Chemotherapy
#2
JOURNAL ARTICLE
Alessandro Miscioscia, Constantina A Treaba, Valeria T Barletta, Elena Herranz, Jacob A Sloane, Elena Barbuti, Caterina Mainero
BACKGROUND: Paramagnetic rim white matter (WM) lesions (PRL) are thought to be a main driver of non-relapsing multiple sclerosis (MS) progression. It is unknown whether cerebrospinal fluid (CSF)-soluble factors diffusing from the ventricles contribute to PRL formation. OBJECTIVE: To investigate the distribution of PRL and non-rim brain WM lesions as a function of distance from ventricular CSF, their relationship with cortical lesions, the contribution of lesion phenotype, and localization to neurological disability...
January 27, 2024: Multiple Sclerosis: Clinical and Laboratory Research
#3
JOURNAL ARTICLE
Patrizia Benzoni, Elisabetta Gazzerro, Chiara Fiorillo, Serena Baratto, Chiara Bartolucci, Stefano Severi, Raffaella Milanesi, Melania Lippi, Marianna Langione, Carmen Murano, Clarissa Meoni, Vera Popolizio, Alessandro Cospito, Mirko Baruscotti, Annalisa Bucchi, Andrea Barbuti
Caveolae constitute membrane microdomains where receptors and ion channels functionally interact. Caveolin-3 (cav-3) is the key structural component of muscular caveolae. Mutations in CAV3 lead to caveolinopathies, which result in both muscular dystrophies and cardiac diseases. In cardiomyocytes, cav-1 participates with cav-3 to form caveolae; skeletal myotubes and adult skeletal fibers do not express cav-1. In the heart, the absence of cardiac alterations in the majority of cases may depend on a conserved organization of caveolae thanks to the expression of cav-1...
January 12, 2024: International Journal of Molecular Sciences
#4
JOURNAL ARTICLE
Patrizia Benzoni, Lorenzo Da Dalt, Noemi Elia, Vera Popolizio, Alessandro Cospito, Federica Giannetti, Patrizia Dell'Era, Morten S Olesen, Annalisa Bucchi, Mirko Baruscotti, Giuseppe Danilo Norata, Andrea Barbuti
Atrial fibrillation (AF) is the most common cardiac arrhythmia worldwide; however, the underlying causes of AF initiation are still poorly understood, particularly because currently available models do not allow in distinguishing the initial causes from maladaptive remodeling that induces and perpetuates AF. Lately, the genetic background has been proven to be important in the AF onset. iPSC-derived cardiomyocytes, being patient- and mutation-specific, may help solve this diatribe by showing the initial cell-autonomous changes underlying the development of the disease...
2023: Frontiers in Physiology
#5
REVIEW
Giulio Emilio Brancati, Donatella Acierno, Margherita Barbuti, Camilla Elefante, Samuele Gemignani, Accursio Raia, Giulio Perugi
INTRODUCTION: Emotional dysregulation (ED) symptoms are present in a considerable portion of patients with attention-deficit/hyperactivity disorder (ADHD). In recent years, an increasing number of studies investigated the effects of stimulant medications on ED in patients with ADHD. AREAS COVERED: A narrative review of the literature on stimulant treatment for ED is provided, including controlled and observational clinical studies conducted on pediatric and adult samples and neurobiological investigations...
September 25, 2023: Expert Review of Neurotherapeutics
#6
JOURNAL ARTICLE
Jacopo C DiFrancesco, Francesca Ragona, Carmen Murano, Anthony Frosio, Dario Melgari, Anna Binda, Serena Calamaio, Rachele Prevostini, Mario Mauri, Laura Canafoglia, Barbara Castellotti, Giuliana Messina, Cinzia Gellera, Roberto Previtali, Pierangelo Veggiotti, Raffaella Milanesi, Andrea Barbuti, Roberta Solazzi, Elena Freri, Tiziana Granata, Ilaria Rivolta
Missense variants of hyperpolarization-activated, cyclic nucleotide-gated (HCN) ion channels cause variable phenotypes, ranging from mild generalized epilepsy to developmental and epileptic encephalopathy (DEE). Although variants of HCN1 are an established cause of DEE, those of HCN2 have been reported in generalized epilepsies. Here we describe the first case of DEE caused by the novel de novo heterozygous missense variant c.1379G>A (p.G460D) of HCN2. Functional characterization in transfected HEK293 cells and neonatal rat cortical neurons revealed that HCN2 p...
December 2023: Epilepsia
#7
REVIEW
Łukasz P Szałach, Katarzyna A Lisowska, Wiesław J Cubała, Margherita Barbuti, Giulio Perugi
Bipolar disorder (BD) is a chronic mental disorder characterized by recurrent episodes of mania and depression alternating with periods of euthymia. Although environmental and genetic factors have been described, their pathogenesis is not fully understood. Much evidence suggests a role for inflammatory mediators and immune dysregulation in the development of BD. The first-line treatment in BD are mood-stabilizing agents, one of which is lithium (Li) salts. The Li mechanism of action is not fully understood, but it has been proposed that its robust immunomodulatory properties might be one of the mechanisms responsible for its effectiveness...
2023: Frontiers in Neuroscience
#8
JOURNAL ARTICLE
Francesca Peluso, Stefano G Caraffi, Gianluca Contrò, Lara Valeri, Manuela Napoli, Giorgia Carboni, Alka Seth, Roberta Zuntini, Emanuele Coccia, Guja Astrea, Anne-Marie Bisgaard, Ivan Ivanovski, Silvia Maitz, Elise Brischoux-Boucher, Melissa T Carter, Maria Lisa Dentici, Koenraad Devriendt, Melissa Bellini, Maria Cristina Digilio, Asif Doja, David A Dyment, Stense Farholt, Carlos R Ferreira, Lynne A Wolfe, William A Gahl, Maria Gnazzo, Himanshu Goel, Sabine Weller Grønborg, Trine Hammer, Lorenzo Iughetti, Tjitske Kleefstra, David A Koolen, Francesca Romana Lepri, Gabrielle Lemire, Pedro Louro, Gary McCullagh, Simona F Madeo, Annarita Milone, Roberta Milone, Jens Erik Klint Nielsen, Antonio Novelli, Charlotte W Ockeloen, Rosario Pascarella, Tommaso Pippucci, Ivana Ricca, Stephen P Robertson, Sarah Sawyer, Marie Falkenberg Smeland, Sander Stegmann, Constanze T Stumpel, Amy Goel, Juliet M Taylor, Domenico Barbuti, Annarosa Soresina, Maria Francesca Bedeschi, Roberta Battini, Anna Cavalli, Carlo Fusco, Maria Iascone, Lionel Van Maldergem, Sunita Venkateswaran, Orsetta Zuffardi, Samantha Vergano, Livia Garavelli, Allan Bayat
BACKGROUND: KBG syndrome is caused by haploinsufficiency of ANKRD11 and is characterised by macrodontia of upper central incisors, distinctive facial features, short stature, skeletal anomalies, developmental delay, brain malformations and seizures. The central nervous system (CNS) and skeletal features remain poorly defined. METHODS: CNS and/or skeletal imaging were collected from molecularly confirmed individuals with KBG syndrome through an international network...
August 16, 2023: Journal of Medical Genetics
#9
JOURNAL ARTICLE
Daniele Roselli, Maria Addolorata Bonifacio, Giovanna Barbuti, Maria Rosaria Rossiello, Prudenza Ranieri, Maria Addolorata Mariggiò
The antiphospholipid antibodies (aPL) increase the risk of developing thrombotic events and may coexist with a variety of autoimmune diseases. They can be detected chronically or temporarily in patients with infectious diseases, during drug therapy, or in cases of cancer. A thrombotic event with aPL detection is known as antiphospholipid syndrome (APS) and the diagnostic criteria include the presence of lupus anticoagulant (LA), anticardiolipin (aCL) and β2 -glycoprotein-1(aβ2 GPI) antibodies. Other autoantigens recognized in APS are phosphatidylserine (aPS), prothrombin (aPT) and Annexin-5 (aA5)...
July 27, 2023: Diagnostics
#10
JOURNAL ARTICLE
Antonino Sammartano, Luca Bertoncini, Arianna Barbuti, Luigi Ippolito
BACKGROUND AND AIM: Vitamin A toxicity is uncommon, but when it occurs can be serious and even fatal. A case vitamin A intoxication with high levels in liver tests, thrombocytopenia and appearance virosis. Laboratory testing is one of the most widely used diagnostic interventions supporting medical decisions of this phenomenon are necessary. CASE REPORT: Here, we report a case vitamin A intoxication with high levels in liver tests, thrombocytopenia and appearance virosis...
June 14, 2023: Acta Bio-medica: Atenei Parmensis
#11
JOURNAL ARTICLE
Margherita Barbuti, Giulia Carignani, Francesco Weiss, Alba Calderone, Paola Fierabracci, Guido Salvetti, Giulia Menculini, Alfonso Tortorella, Ferruccio Santini, Giulio Perugi
PURPOSE: Subjects with obesity, especially those seeking bariatric surgery, exhibit high rates of mental disorders and marked psychopathological traits. The primary objective of this prospective, non-interventional study was to investigate whether the presence of different psychiatric disorders, attention deficit/hyperactivity disorder (ADHD) symptomatology and emotional dysregulation influenced weight loss at 1-year follow-up after surgery. METHODS: Subjects consecutively referred for pre-surgical evaluation at the Obesity Center of Pisa University Hospital were recruited...
June 2, 2023: Eating and Weight Disorders: EWD
#12
REVIEW
Francesco Weiss, Valerio Caruso, Ugo De Rosa, Maria Francesca Beatino, Margherita Barbuti, Ferdinando Nicoletti, Giulio Perugi
OBJECTIVES: Glutamatergic transmission and N-methyl-D-aspartate receptors (NMDARs) have been implicated in the pathophysiology schizophrenic spectrum and major depressive disorders. Less is known about the role of NMDARs in bipolar disorder (BD). The present systematic review aimed to investigate the role of NMDARs in BD, along with its possible neurobiological and clinical implications. METHODS: We performed a computerized literature research on PubMed in accordance with the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) statement, using the following string: (("Bipolar Disorder"[Mesh]) OR (manic-depressive disorder[Mesh]) OR ("BD") OR ("MDD")) AND ((NMDA [Mesh]) OR (N-methyl-D-aspartate) OR (NMDAR[Mesh]) OR (N-methyl-D-aspartate receptor))...
May 19, 2023: Bipolar Disorders
#13
JOURNAL ARTICLE
Sara Landi, Federica Giannetti, Patrizia Benzoni, Giulia Campostrini, Giuliana Rossi, Chiara Piantoni, Giorgia Bertoli, Chiara Bonfanti, Luca Carnevali, Annalisa Bucchi, Mirko Baruscotti, Giorgia Careccia, Graziella Messina, Andrea Barbuti
AIMS: Nfix is a transcription factor belonging to the Nuclear Factor I (NFI) family comprising four members (Nfia,b,c,x). Nfix plays important roles in the development and function of several organs. In muscle development, Nfix controls the switch from embryonic to fetal myogenesis by promoting fast twitching fibers. In the adult muscle, following injury, lack of Nfix impairs regeneration, inducing higher content of slow-twiching fibers. Nfix is expressed also in the heart but its function has been never investigated before...
April 25, 2023: Acta Physiologica
#14
REVIEW
Margherita Barbuti, Marco Maiello, Vincenza Spera, Alessandro Pallucchini, Giulio E Brancati, Angelo G I Maremmani, Giulio Perugi, Icro Maremmani
Adults with attention deficit/hyperactivity disorder (ADHD) often present psychiatric comorbidities and, in particular, substance use disorder (SUD). ADHD-SUD comorbidity is characterized by greater severity of both disorders, earlier age of onset, higher likelihood of polydrug-abuse and suicidal behaviors, more hospitalizations, and lower treatment adherence. At the present stage, research focused on the pharmacological management of ADHD with comorbid SUD in both adolescents and adults is still lacking. Furthermore, while the short-term effects of stimulants are well studied, less is known about the chronic effects of these drugs on dopamine signaling...
April 24, 2023: Journal of Clinical Medicine
#15
REVIEW
Margherita Barbuti, Giulia Menculini, Norma Verdolini, Isabella Pacchiarotti, Georgios D Kotzalidis, Alfonso Tortorella, Eduard Vieta, Giulio Perugi
The present systematic review was aimed at critically summarizing the evidence about treatment-emergent manic/hypomanic and depressive switches during the course of bipolar disorder (BD). A systematic search of the MEDLINE, EMBASE, CINAHL, Web of Science, and PsycInfo electronic databases was conducted until March 24th, 2021, according to the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) statement. Observational studies clearly reporting data regarding the prevalence of treatment-emergent mood switches in patients with BD were considered for inclusion...
April 27, 2023: European Neuropsychopharmacology: the Journal of the European College of Neuropsychopharmacology
#16
Elena Barbuti, Riccardo Nistri, Antonio Ianniello, Carlo Pozzilli, Serena Ruggieri
BACKGROUND: Radiologically isolated syndrome (RIS) describes asymptomatic individuals with incidental radiologic abnormalities suggestive of multiple sclerosis (MS). Much of RIS literature is about adult-onset cases. Treatment of RIS is controversial, especially in pediatric age, but early treatment in selected patients might improve long-term outcomes. CASE PRESENTATION: We report a single RIS patient who followed up for 18 years in our MS center. At first, she was only monitored with follow-up MRIs...
2023: Frontiers in Neurology
#17
REVIEW
Caterina Mainero, Constantina A Treaba, Elena Barbuti
PURPOSE OF REVIEW: Cortical lesions are an established pathological feature of multiple sclerosis, develop from the earliest disease stages and contribute to disease progression. Here, we discuss current imaging approaches for detecting cortical lesions in vivo and their contribution for improving our understanding of cortical lesion pathogenesis as well as their clinical significance. RECENT FINDINGS: Although a variable portion of cortical lesions goes undetected at clinical field strength and even at ultra-high field MRI, their evaluation is still clinically relevant...
June 1, 2023: Current Opinion in Neurology
#18
JOURNAL ARTICLE
Marzia De Bortoli, Viviana Meraviglia, Katarina Mackova, Laura S Frommelt, Eva König, Johannes Rainer, Chiara Volani, Patrizia Benzoni, Maja Schlittler, Giada Cattelan, Benedetta M Motta, Claudia Volpato, Werner Rauhe, Andrea Barbuti, Serena Zacchigna, Peter P Pramstaller, Alessandra Rossini
Human induced pluripotent stem cell derived cardiomyocytes (hiPSC-CMs) are commonly used to model arrhythmogenic cardiomyopathy (ACM), a heritable cardiac disease characterized by severe ventricular arrhythmias, fibrofatty myocardial replacement and progressive ventricular dysfunction. Although ACM is inherited as an autosomal dominant disease, incomplete penetrance and variable expressivity are extremely common, resulting in different clinical manifestations. Here, we propose hiPSC-CMs as a powerful in vitro model to study incomplete penetrance in ACM...
2023: Computational and Structural Biotechnology Journal
#19
REVIEW
Maria D Barbuti, Ine S Myrbråten, Danae Morales Angeles, Morten Kjos
As bacteria proliferate, DNA replication, chromosome segregation, cell wall synthesis, and cytokinesis occur concomitantly and need to be tightly regulated and coordinated. Although these cell cycle processes have been studied for decades, several mechanisms remain elusive, specifically in coccus-shaped cells such as Staphylococcus aureus. In recent years, major progress has been made in our understanding of how staphylococci divide, including new, fundamental insights into the mechanisms of cell wall synthesis and division site selection...
February 2023: MicrobiologyOpen
#20
JOURNAL ARTICLE
Sara Ricciardulli, Lorenzo Lattanzi, Margherita Barbuti, Roberto Ceravolo, Giulio Perugi
Zolpidem is a non-benzodiazepine agent used for short-term treatment of insomnia. Several cases of dependence and withdrawal from zolpidem are reported in the literature. Furthermore, involuntary movements after prolonged zolpidem misuse have been described. In this case report, a 69-year-old Italian woman with no history of diagnosed psychiatric or neurologic diseases developed uncontrolled movements and a depressive-anxious syndrome after twelve-year zolpidem misuse. The underlying mechanisms of involuntary movements occurring after long-term zolpidem intake are unknown; yet, we suggest that zolpidem might induce an increase in dopamine release through inhibition of gamma-aminobutyric acid neurons tonically suppressing dopamine cells...
March 1, 2023: International Clinical Psychopharmacology
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