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JOURNAL ARTICLE
Roshini Gunewardena, Lisa Hall, Michelle Li, Gabrielle Drum, Dianna Le, Emily Nigro, Bridget Houlder, Claire Phillips, Greg Wheeler, Kirsty Wiltshire, Tomas Kron, Adam Yeo
Proton-beam therapy (PBT) is a cutting-edge radiation therapy modality that is currently not available in Australia. Comparative photon-proton (CPP) planning is required for the medical treatment overseas programme (MTOP) and will be required for access to PBT in Australia in the future. Comparative planning brings professional development benefits to all members of the radiation therapy team. This service was also created to support future proposals for a PBT facility in Victoria. We report our experience developing an in-house CPP service at Peter MacCallum Cancer Centre...
February 2, 2024: Journal of Medical Radiation Sciences
#62
JOURNAL ARTICLE
F Inglese, M Montemagno, A Brigo, M Nigro, A Giorgini, G M Micheloni, G Porcellini
BACKGROUND: Adhesive capsulitis (AC) is a disease of the glenohumeral joint that is characterized by pain and both passive and active global stiffness with a slow and insidious onset. The disease can occur spontaneously (primary AC) or it can be secondary to other comorbidities, surgery, or trauma, such as fracture or dislocation. Multiple treatment approaches have been suggested: intra-articular steroid injection, physical therapy, manipulation under total anesthesia, and arthroscopic or open surgery...
January 28, 2024: Journal of Orthopaedics and Traumatology: Official Journal of the Italian Society of Orthopaedics and Traumatology
#63
JOURNAL ARTICLE
Isabella B Bustelli, Luiz M Oliveira, Nelson F C Netto, Roberta S Stilhano, Ariadiny L Caetano
Parkinson's disease (PD) is a chronic and progressive neurodegenerative disorder characterized by the loss of dopaminergic neurons in the Substantia nigra pars compacta (SNpc), which leads to motor and non-motor symptoms (NMS). NMS can appear many years before the classical motor symptoms and are associated with the neurodegeneration of several nuclei; in this work, we highlight the neurodegeneration of Locus coeruleus (LC) in PD. The aim was to investigate the effects of depleting SNpc and LC catecholaminergic neurons on behavioral and neurobiological endpoints...
January 22, 2024: Behavioural Brain Research
#64
JOURNAL ARTICLE
Srujan Ganta, Jessica Haley, Howaida El-Said, Brian Lane, Shylah Haldeman, Tara Karamlou, John Moore, Rohit Rao, John J Nigro
Patent ductus arteriosus stenting (PDAS) for ductal-dependent pulmonary blood flow (DDPBF) provides a new paradigm for managing neonates with single ventricles (SV). Currently, sparse data exist regarding outcomes for subsequent palliation. We describe our experience with inter-stage care and stage 2 (S2P) conversion with PDAS in comparison to a prior era of patients who received surgical aorto-pulmonary shunts (APS). Retrospective review of 18 consecutive DDPBF SV patients treated with PDAS between 2016 and 2021 was done and compared with 9 who underwent APS from 2010 to 2016...
January 24, 2024: Pediatric Cardiology
#65
Maria Elena Onore, Martina Caiazza, Antonella Farina, Gioacchino Scarano, Alberto Budillon, Rossella Nicoletta Borrelli, Giuseppe Limongelli, Vincenzo Nigro, Giulio Piluso
Noonan syndrome is an autosomal dominant developmental disorder characterized by peculiar facial dysmorphisms, short stature, congenital heart defects, and hypertrophic cardiomyopathy. In 2001, PTPN11 was identified as the first Noonan syndrome gene and is responsible for the majority of Noonan syndrome cases. Over the years, several other genes involved in Noonan syndrome ( KRAS , SOS1 , RAF1 , MAP2K1 , BRAF , NRAS , RIT1 , and LZTR1 ) have been identified, acting at different levels of the RAS-mitogen-activated protein kinase pathway...
December 25, 2023: Genes
#66
JOURNAL ARTICLE
Vincenzo Russo, Alfredo Caturano, Federico Migliore, Federico Guerra, Pietro Francia, Martina Nesti, Giulio Conte, Alessandro Paoletti Perini, Giuseppe Mascia, Stefano Albani, Procolo Marchese, Vincenzo Ezio Santobuono, Gregory Dendramis, Andrea Rossi, Emilio Attena, Andrea Ottonelli Ghidini, Luigi Sciarra, Zefferino Palamà, Enrico Baldi, Emanuele Romeo, Antonio D'Onofrio, Gerardo Nigro
BACKGROUND: There are limited real-world data about the extended prognosis of patients with drug-induced type 1 Brugada electrocardiogram (ECG). OBJECTIVE: We assessed the clinical outcomes and predictors of life-threatening arrhythmias in patients with drug-induced type 1 Brugada ECG. MATERIALS AND METHODS: This multicenter retrospective study, conducted at 21 Italian and Swiss hospitals from July 1997 to May 2021, included consecutive patients with drug-induced type 1 ECG...
January 17, 2024: Heart Rhythm: the Official Journal of the Heart Rhythm Society
#67
REVIEW
Alim Osman, Alexandra Nigro, Amanda Chen Taylor, Ryan Saal, Ana Ormaza Vera, Clinton Enos
OBJECTIVE: Cardiometabolic risk factors have been shown to decrease biologic efficacy in patients treated for inflammatory conditions. The purpose of this systematic review is to provide a qualitative evaluation of studies investigating biologic response among psoriasis patients with cardiometabolic comorbidities. METHODS: A comprehensive review was conducted according to the Preferred Reporting Guidelines for Systematic Reviews and Meta-Analysis guidelines to screen for studies including patients with cardiometabolic risk factors receiving biologic therapy for psoriasis...
2024: Psoriasis: Targets and Therapy
#68
JOURNAL ARTICLE
Juan Riva, Jimena Calviño, Juan Pablo Bouchacourt, Leticia Turconi, Fiorella Cavalleri, Nigro Neto Caetano, Luis Enriquez, Bruno Tonelotto, Guillermo Lema, Pablo Motta
OBJECTIVES: To evaluate demographics, workload, training, facilities, and equipment in cardiovascular anesthesia (CVA) in Latin America (LA). DESIGN: A descriptive cross-sectional study with data collected through a survey. SETTING: A multicenter, international web-based questionnaire that included 37 multiple-choice questions. PARTICIPANTS: Physicians and specialists in anesthesiology who regularly participated in cardiovascular surgeries and were members of the scientific societies of the Latin American Confederation of Anesthesiology...
October 14, 2023: Journal of Cardiothoracic and Vascular Anesthesia
#69
JOURNAL ARTICLE
Ilaria Nigro, Rocchina Miglionico, Monica Carmosino, Andrea Gerbino, Anna Masato, Michele Sandre, Luigi Bubacco, Angelo Antonini, Roberta Rinaldi, Faustino Bisaccia, Maria Francesca Armentano
Up-regulated Gene clone 7 (URG7) is a protein localized in the endoplasmic reticulum (ER) and overexpressed in liver cells upon hepatitis B virus (HBV) infection. Its activity has been related to the attenuation of ER stress resulting from HBV infection, promoting protein folding and ubiquitination and reducing cell apoptosis overall. While the antiapoptotic activity of URG7 in HBV-infected cells may have negative implications, this effect could be exploited positively in the field of proteinopathies, such as neurodegenerative diseases...
December 29, 2023: International Journal of Molecular Sciences
#70
JOURNAL ARTICLE
Jan Homolak, Mihovil Joja, Gracia Grabaric, Emiliano Schiatti, Davor Virag, Ana Babic Perhoc, Ana Knezovic, Jelena Osmanovic Barilar, Melita Salkovic-Petrisic
The gut-brain axis plays an important role in Parkinson's disease (PD) by acting as a route for vagal propagation of aggregated α-synuclein in the gut-first endophenotype and as a mediator of gastrointestinal dyshomeostasis via the nigro-vagal pathway in the brain-first endophenotype of the disease. One important mechanism by which the gut-brain axis may promote PD is by regulating gastrointestinal redox homeostasis as overwhelming evidence suggests that oxidative stress plays a key role in the etiopathogenesis and progression of PD and the gastrointestinal tract maintains redox homeostasis of the organism by acting as a critical barrier to environmental and microbiological electrophilic challenges...
January 10, 2024: Molecular Neurobiology
#71
Francesco Dibitetto, Pierluigi Russo, Filippo Marino, Mauro Ragonese, Domenico Nigro, Nazario Foschi
Hem-o-Lok clips (HOLCs) are a useful tool in mini-invasive surgery, especially for renal surgery. However, in rare cases, they could migrate into the collecting system and be calculogenic. We present a case of a 53 years old man with an incidental CT finding of a left staghorn caliceal stone increasing its size in the last 2 years. He had a medical history of ipsilateral robotic partial nephrectomy (RAPN) at another institution 8 years before and a previous renal colic with spontaneous stone elimination about 20 years before...
January 9, 2024: Urologia Internationalis
#72
JOURNAL ARTICLE
Andrea Accogli, Saurabh Shakya, Taewoo Yang, Christine Insinna, Soo Yeon Kim, David Bell, Kirill R Butov, Mariasavina Severino, Marcello Niceta, Marcello Scala, Hyun Sik Lee, Taekyeong Yoo, Jimmy Stauffer, Huijie Zhao, Chiara Fiorillo, Marina Pedemonte, Maria C Diana, Simona Baldassari, Viktoria Zakharova, Anna Shcherbina, Yulia Rodina, Christina Fagerberg, Laura Sønderberg Roos, Jolanta Wierzba, Artur Dobosz, Amanda Gerard, Lorraine Potocki, Jill A Rosenfeld, Seema R Lalani, Tiana M Scott, Daryl Scott, Mahshid S Azamian, Raymond Louie, Hannah W Moore, Neena L Champaigne, Grace Hollingsworth, Annalaura Torella, Vincenzo Nigro, Rafal Ploski, Vincenzo Salpietro, Federico Zara, Simone Pizzi, Giovanni Chillemi, Marzia Ognibene, Erin Cooney, Jenny Do, Anders Linnemann, Martin J Larsen, Suzanne Specht, Kylie J Walters, Hee-Jung Choi, Murim Choi, Marco Tartaglia, Phillippe Youkharibache, Jong-Hee Chae, Valeria Capra, Sung-Gyoo Park, Christopher J Westlake
WDR44 prevents ciliogenesis initiation by regulating RAB11-dependent vesicle trafficking. Here, we describe male patients with missense and nonsense variants within the WD40 repeats (WDR) of WDR44, an X-linked gene product, who display ciliopathy-related developmental phenotypes that we can model in zebrafish. The patient phenotypic spectrum includes developmental delay/intellectual disability, hypotonia, distinct craniofacial features and variable presence of brain, renal, cardiac and musculoskeletal abnormalities...
January 8, 2024: Nature Communications
#73
JOURNAL ARTICLE
Marco Filardi, Valentina Gnoni, Ludovica Tamburrino, Salvatore Nigro, Daniele Urso, Davide Vilella, Benedetta Tafuri, Alessia Giugno, Roberto De Blasi, Stefano Zoccolella, Giancarlo Logroscino
INTRODUCTION: Sleep and rest-activity rhythm alterations are common in neurodegenerative diseases. However, their characterization in patients with behavioral variant frontotemporal dementia (bvFTD) has proven elusive. We investigated rest-activity rhythm alterations, sleep disturbances, and their neural correlates in bvFTD. METHODS: Twenty-seven bvFTD patients and 25 healthy controls completed sleep questionnaires and underwent 7 days of actigraphy while concurrently maintaining a sleep diary...
January 6, 2024: Alzheimer's & Dementia: the Journal of the Alzheimer's Association
#74
JOURNAL ARTICLE
F Riminucci, A Gianfrate, D Nigro, V Ardizzone, S Dhuey, L Francaviglia, K Baldwin, L N Pfeiffer, D Ballarini, D Trypogeorgos, A Schwartzberg, D Gerace, D Sanvitto
The development of patterned multiquantum well heterostructures in GaAs/AlGaAs waveguides has recently made it possible to achieve exciton-polariton condensation in a topologically protected bound state in the continuum (BIC). Polariton condensation was shown to occur above a saddle point of the two-dimensional polariton dispersion in a one-dimensional photonic crystal waveguide. A rigorous analysis of the condensation phenomenon in these systems, as well as the role of the BIC, is still missing. In the present Letter, we theoretically and experimentally fill this gap by showing that polariton confinement resulting from the negative effective mass and the photonic energy gap in the dispersion play a key role in enhancing the relaxation toward the condensed state...
December 15, 2023: Physical Review Letters
#75
JOURNAL ARTICLE
Ana Lúcia Rebelo, Richard R Drake, Martina Marchetti-Deschmann, Radka Saldova, Abhay Pandit
Parkinson's disease (PD) associated state of neuroinflammation due to the aggregation of aberrant proteins is widely reported. One type of post-translational modification involved in protein stability is glycosylation. Here, we aimed to characterize the human Parkinsonian nigro-striatal N -glycome, and related transcriptome/proteome, and its correlation with endoplasmic reticulum (ER) stress and unfolded protein response (UPR), providing a comprehensive characterization of the PD molecular signature. Significant changes were seen upon a PD: a 3% increase in sialylation and 5% increase in fucosylation in both regions, and a 2% increase in oligomannosylated N -glycans in the substantia nigra...
January 2024: PNAS Nexus
#76
JOURNAL ARTICLE
Monica Traverso, Serena Baratto, Michele Iacomino, Marco Di Duca, Chiara Panicucci, Sara Casalini, Marina Grandis, Antonio Falace, Annalaura Torella, Esther Picillo, Maria Elena Onore, Luisa Politano, Vincenzo Nigro, A Micheil Innes, Rita Barresi, Claudio Bruno, Federico Zara, Chiara Fiorillo, Marcello Scala
DAG1 encodes for dystroglycan, a key component of the dystrophin-glycoprotein complex (DGC) with a pivotal role in skeletal muscle function and maintenance. Biallelic loss-of-function DAG1 variants cause severe muscular dystrophy and muscle-eye-brain disease. A possible contribution of DAG1 deficiency to milder muscular phenotypes has been suggested. We investigated the genetic background of twelve subjects with persistent mild-to-severe hyperCKemia to dissect the role of DAG1 in this condition. Genetic testing was performed through exome sequencing (ES) or custom NGS panels including various genes involved in a spectrum of muscular disorders...
January 4, 2024: European Journal of Human Genetics: EJHG
#77
Marco Nigro, Lucas Silva Tortorelli, Kevin Dinh, Machhindra Garad, Natalie E Zlebnik, Hongdian Yang
Behavioral flexibility, the ability to adjust behavioral strategies in response to changing environmental contingencies and internal demands, is fundamental to cognitive functions. Despite a large body of pharmacology and lesion studies, the underlying neurophysiological correlates and mechanisms that support flexible rule switching remain elusive. To address this question, we trained mice to distinguish complex sensory cues comprising different perceptual dimensions (set shifting). Endoscopic calcium imaging revealed that medial prefrontal cortex (mPFC) neurons represented multiple task-related events and exhibited pronounced dynamic changes during rule switching...
December 14, 2023: bioRxiv
#78
JOURNAL ARTICLE
Marcello Scala, Kamal Khan, Claire Beneteau, Rachel G Fox, Sandra von Hardenberg, Ayaz Khan, Madeleine Joubert, Lorraine Fievet, Marie Musquer, Claudine Le Vaillant, Julie Korda Holsclaw, Derek Lim, Ann-Cathrine Berking, Andrea Accogli, Thea Giacomini, Lino Nobili, Pasquale Striano, Federico Zara, Annalaura Torella, Vincenzo Nigro, Benjamin Cogné, Max R Salick, Ajamete Kaykas, Kevin Eggan, Valeria Capra, Stéphane Bézieau, Erica E Davis, Michael F Wells
PURPOSE: We established the genetic etiology of a syndromic neurodevelopmental condition characterized by variable cognitive impairment, recognizable facial dysmorphism, and a constellation of extra-neurological manifestations. METHODS: We performed phenotypic characterization of six participants from four unrelated families presenting with a neurodevelopmental syndrome and used exome sequencing (ES) to investigate the underlying genetic cause. To probe relevance to the neurodevelopmental phenotype and craniofacial dysmorphism, we established two- and three-dimensional human stem cell-derived neural models, and generated a stable cachd1 zebrafish mutant on a transgenic cartilage reporter line...
December 26, 2023: Genetics in Medicine: Official Journal of the American College of Medical Genetics
#79
JOURNAL ARTICLE
Anthonia Okolie, Maria Rincon Nigro, Sharhazad Polk, Keyona Stubbs, Selvam Chelliah, Sunny E Ohia, Dong Liang, Ya Fatou Njie Mbye
There are limited studies that report the physiological levels of H2 S in the eye. The currently available UV/Vis methods lack the required sensitivity and precision. Hence, the purpose of this study was to develop and validate a sensitive and robust pre-column derivatization LC-MS/MS method to measure changes in H2 S levels in tissues from isolated porcine eyes. H2 S was derivatized and an LC-MS/MS method was developed to monitor the derivatized product, Sulfide-dibimane (Sdb) using a reverse phase Waters Acquity BEH C18 column (1...
December 27, 2023: Analytical Biochemistry
#80
JOURNAL ARTICLE
Giorgia Coratti, Marika Pane, Claudia Brogna, Adele D'Amico, Elena Pegoraro, Luca Bello, Valeria A Sansone, Emilio Albamonte, Elisabetta Ferraroli, Elena Stacy Mazzone, Lavinia Fanelli, Sonia Messina, Maria Sframeli, Michela Catteruccia, Gianpaolo Cicala, Anna Capasso, Martina Ricci, Silvia Frosini, Giacomo De Luca, Enrica Rolle, Roberto De Sanctis, Nicola Forcina, Giulia Norcia, Luigia Passamano, Marianna Scutifero, Alice Gardani, Antonella Pini, Giulia Monaco, Maria Grazia D'Angelo, Daniela Leone, Riccardo Zanin, Gian Luca Vita, Chiara Panicucci, Claudio Bruno, Tiziana Mongini, Federica Ricci, Angela Berardinelli, Roberta Battini, Riccardo Masson, Giovanni Baranello, Claudia Dosi, Enrico Bertini, Vincenzo Nigro, Luisa Politano, Eugenio Mercuri
Duchenne muscular dystrophy (DMD) is a neuromuscular condition characterized by muscle weakness. The Performance of upper limb (PUL) test is designed to evaluate upper limb function in DMD patients across three domains. The aim of this study is to identify frequently lost or gained PUL 2.0 abilities at distinct functional stages in DMD patients. This retrospective study analyzed prospectively collected data on 24-month PUL 2.0 changes related to ambulatory function. Ambulant patients were categorized based on initial 6MWT distance, non-ambulant patients by time since ambulation loss...
December 3, 2023: Neuromuscular Disorders: NMD
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