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JOURNAL ARTICLE
Serena Milano, Ilenia Saponara, Andrea Gerbino, Monica Carmosino, Maria Svelto, Giuseppe Procino
X-linked nephrogenic diabetes insipidus (X-NDI) is a rare congenital disease caused by inactivating mutations of the vasopressin type-2 receptor (AVPR2), characterized by impaired renal concentrating ability, dramatic polyuria, polydipsia and risk of dehydration. The disease, which still lacks a cure, could benefit from the pharmacologic stimulation of other GPCRs, activating the cAMP-intracellular pathway in the kidney cells expressing the AVPR2. On the basis of our previous studies, we here hypothesized that the β3-adrenergic receptor could be such an ideal candidate...
April 2024: Journal of Cellular and Molecular Medicine
#2
JOURNAL ARTICLE
Bianca Serio, Gabriella Storti, Matteo D'Addona, Lidia Santoro, Camilla Frieri, Danilo De Novellis, Luana Marano, Giovanna De Santis, Roberto Guariglia, Ilenia Manfra, Eleonora Urciuoli, Serena Luponio, Serena Marotta, Denise Morini, Michela Rizzo, Fausto Palmieri, Nicola Cantore, Valentina Giudice, Antonio Maria Risitano, Carmine Selleri
Background: Post-transplant cyclophosphamide (PTCY) is widely used as graft versus host disease (GvHD) prophylaxis in allogeneic hematopoietic stem cell transplant (HSCT) recipients, with reported clinical benefits in patients who underwent transplant from a matched unrelated donor (MUD). However, real-life data on clinical efficacy and safety of PTCY in haploidentical and MUD transplantations are still poor. Methods: In our real-life retrospective observational study, we included a total of 40 consecutive adult patients who underwent haploidentical or MUD HSCT for various hematological malignancies and who received PTCY ( n = 24) or ATG ( n = 16) as GvHD prophylaxis at Hematology Units from hospitals of Salerno and Avellino, Italy, and clinical outcomes were compared...
April 17, 2024: Hematology Reports
#3
JOURNAL ARTICLE
Valeria Cuccarini, Filippo Savoldi, Yael Mardor, David Last, Serena Pellegatta, Federica Mazzi, Maria Grazia Bruzzone, Elena Anghileri, Bianca Pollo, Luisa Maddaloni, Camilla Russo, Elisa Bocchi, Valentina Pinzi, Marica Eoli, Domenico Aquino
INTRODUCTION: Assessing the treatment response of glioblastoma multiforme during immunotherapy (IT) is an open issue. Treatment response assessment maps (TRAMs) might help distinguish true tumor progression (TTP) and pseudoprogression (PsP) in this setting. METHODS: We recruited 16 naïve glioblastoma patients enrolled in a phase II trial consisting of the Stupp protocol (a standardized treatment for glioblastoma involving combined radiotherapy and chemotherapy with temozolomide, followed by adjuvant temozolomide) plus IT with dendritic cells...
2024: Frontiers in Neurology
#4
JOURNAL ARTICLE
Michele Iacomino, Nadia Houerbi, Sara Fortuna, Jennifer Howe, Shan Li, Giovanna Scorrano, Antonella Riva, Kai-Wen Cheng, Mandy Steiman, Iskra Peltekova, Afiqah Yusuf, Simona Baldassari, Serena Tamburro, Paolo Scudieri, Ilaria Musante, Armando Di Ludovico, Sara Guerrisi, Ganna Balagura, Antonio Corsello, Stephanie Efthymiou, David Murphy, Paolo Uva, Alberto Verrotti, Chiara Fiorillo, Maurizio Delvecchio, Andrea Accogli, Mayada Elsabbagh, Henry Houlden, Stephen W Scherer, Pasquale Striano, Federico Zara, Tsui-Fen Chou, Vincenzo Salpietro
The human PLAA gene encodes Phospholipase-A2-Activating-Protein (PLAA) involved in trafficking of membrane proteins. Through its PUL domain (PLAP, Ufd3p, and Lub1p), PLAA interacts with p97/VCP modulating synaptic vesicles recycling. Although few families carrying biallelic PLAA variants were reported with progressive neurodegeneration, consequences of monoallelic PLAA variants have not been elucidated. Using exome or genome sequencing we identified PLAA de-novo missense variants, affecting conserved residues within the PUL domain, in children affected with neurodevelopmental disorders (NDDs), including psychomotor regression, intellectual disability (ID) and autism spectrum disorders (ASDs)...
2024: Frontiers in Molecular Neuroscience
#5
Laura Micheli, Carmen Parisio, Elena Lucarini, Alessia Vona, Alessandra Toti, Alessandra Pacini, Tommaso Mello, Serena Boccella, Flavia Ricciardi, Sabatino Maione, Grazia Graziani, Pedro Miguel Lacal, Paola Failli, Carla Ghelardini, Lorenzo Di Cesare Mannelli
No abstract text is available yet for this article.
April 23, 2024: Journal of Experimental & Clinical Cancer Research: CR
#6
EDITORIAL
Cristina Garibaldi, Sam Beddar, Nicola Bizzocchi, Till Tobias Böhlen, Charoula Iliaskou, Raphaël Moeckli, Serena Psoroulas, Anna Subiel, Paige A Taylor, Frank Van den Heuvel, Verdi Vanreusel, Dirk Verellen
No abstract text is available yet for this article.
April 20, 2024: Radiotherapy and Oncology
#7
JOURNAL ARTICLE
Serena Lecce, Luca Ronchi, Rory T Devine
While there is considerable evidence that children's early ability to understand others' mental states, called "theory of mind," is shaped by family experiences, it remains unclear whether children's social interactions at school influence theory of mind (ToM) beyond early childhood. We tested whether the mean level ("quantity") and/or the diversity ("variety") of peers' ToM influenced children's own ToM. We also examined whether peer effects on ToM were independent of possible confounding variables (e.g., verbal ability, social isolation) and comparable across children with different initial levels of ToM and social status...
April 22, 2024: Developmental Psychology
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JOURNAL ARTICLE
Redoy Ranjan, Gie Ken-Dror, Ida Martinelli, Elvira Grandone, Sini Hiltunen, Erik Lindgren, Maurizio Margaglione, Veronique Le Cam Duchez, Aude Triquenot Bagan, Marialuisa Zedde, Nicola Giannini, Ynte M Ruigrok, Bradford B Worrall, Jennifer J Majersik, Jukka Putaala, Elena Haapaniemi, Susanna M Zuurbier, Matthijs C Brouwer, Serena M Passamonti, Maria Abbattista, Paolo Bucciarelli, Robin Lemmens, Emanuela Pappalardo, Paolo Costa, Marina Colombi, Diana Aguiar de Sousa, Sofia Rodrigues, Patrícia Canhão, Aleksander Tkach, Rosa Santacroce, Giovanni Favuzzi, Antonio Arauz, Donatella Colaizzo, Kostas Spengos, Amanda Hodge, Reina Ditta, Alessandro Pezzini, Jonathan M Coutinho, Vincent Thijs, Katarina Jood, Turgut Tatlisumak, José M Ferro, Pankaj Sharma
BACKGROUND AND PURPOSE: Coma is an independent predictor of poor clinical outcomes in cerebral venous thrombosis (CVT). We aimed to describe the association of age, sex, and radiological characteristics of adult coma patients with CVT. METHODS: We used data from the international, multicentre prospective observational BEAST (Biorepository to Establish the Aetiology of Sinovenous Thrombosis) study. Only positively associated variables with coma with <10% missing data in univariate analysis were considered for the multivariate logistic regression model...
April 22, 2024: European Journal of Neurology
#9
JOURNAL ARTICLE
Clizia Cincidda, Silvia Francesca Maria Pizzoli, Serena Oliveri, Paolo Guiddi, Gabriella Pravettoni
INTRODUCTION: Prostate cancer patients (PCP) often struggle with a significant emotional, physical, and social burden during the care-flow pathway. Noteworthy, PCP should not be considered a standalone patient, but someone who is connected with a relevant social environment and that is usually supported by a beloved one, the caregiver. The involvement of the caregivers through the care pathway might bring significant benefits both on the psychological and the treatment and decision-making side...
2024: Frontiers in Medicine
#10
Ferron F Ocampo, Carlo Sacdalan, Suteeraporn Pinyakorn, Misti Paudel, Tanyaporn Wansom, Nathornsorn Poltubtim, Somchai Sriplienc, Nittaya Phanuphak, Robert Paul, Denise Hsu, Donn Colby, Lydie Trautmann, Serena Spudich, Phillip Chan
Background Hepatitis C virus (HCV) coinfection may further compromise immunological and cognitive function in people with HIV (PWH). This study compared laboratory and neuropsychiatric measures across the periods of HCV seroconversion and direct-acting antiviral (DAA) therapy with sustained virologic response (SVR) among PWH who initiated antiretroviral therapy (ART) during acute HIV infection (AHI) and acquired HCV after 24 weeks of ART. Methods Participants from the RV254 AHI cohort underwent paired laboratory and neuropsychiatric assessments during regular follow-up...
April 3, 2024: Research Square
#11
Yuyang Chen, Ruebena Dawes, Hyung Chul Kim, Sarah L Stenton, Susan Walker, Alicia Ljungdahl, Jenny Lord, Vijay S Ganesh, Jialan Ma, Alexandra C Martin-Geary, Gabrielle Lemire, Elston N D'Souza, Shan Dong, Jamie M Ellingford, David R Adams, Kirsten Allan, Madhura Bakshi, Erin E Baldwin, Seth I Berger, Jonathan A Bernstein, Natasha J Brown, Lindsay C Burrage, Kimberly Chapman, Alison G Compton, Chloe A Cunningham, Precilla D'Souza, Emmanuèle C Délot, Kerith-Rae Dias, Ellen R Elias, Carey-Anne Evans, Lisa Ewans, Kimberly Ezell, Jamie L Fraser, Lyndon Gallacher, Casie A Genetti, Christina L Grant, Tobias Haack, Alma Kuechler, Seema R Lalani, Elsa Leitão, Anna Le Fevre, Richard J Leventer, Jan E Liebelt, Paul J Lockhart, Alan S Ma, Ellen F Macnamara, Taylor M Maurer, Hector R Mendez, Stephen B Montgomery, Marie-Cécile Nassogne, Serena Neumann, Melanie O'Leary, Elizabeth E Palmer, John Phillips, Georgia Pitsava, Ryan Pysar, Heidi L Rehm, Chloe M Reuter, Nicole Revencu, Angelika Riess, Rocio Rius, Lance Rodan, Tony Roscioli, Jill A Rosenfeld, Rani Sachdev, Cas Simons, Sanjay M Sisodiya, Penny Snell, Laura St Clair, Zornitza Stark, Tiong Yang Tan, Natalie B Tan, Suzanna El Temple, David R Thorburn, Cynthia J Tifft, Eloise Uebergang, Grace E VanNoy, Eric Vilain, David H Viskochil, Laura Wedd, Matthew T Wheeler, Susan M White, Monica Wojcik, Lynne A Wolfe, Zoe Wolfenson, Changrui Xiao, David Zocche, John L Rubenstein, Eirene Markenscoff-Papadimitriou, Sebastian M Fica, Diana Baralle, Christel Depienne, Daniel G MacArthur, Joanna Mm Howson, Stephan J Sanders, Anne O'Donnell-Luria, Nicola Whiffin
Around 60% of individuals with neurodevelopmental disorders (NDD) remain undiagnosed after comprehensive genetic testing, primarily of protein-coding genes 1 . Increasingly, large genome-sequenced cohorts are improving our ability to discover new diagnoses in the non-coding genome. Here, we identify the non-coding RNA RNU4-2 as a novel syndromic NDD gene. RNU4-2 encodes the U4 small nuclear RNA (snRNA), which is a critical component of the U4/U6.U5 tri-snRNP complex of the major spliceosome 2 . We identify an 18 bp region of RNU4-2 mapping to two structural elements in the U4/U6 snRNA duplex (the T-loop and Stem III) that is severely depleted of variation in the general population, but in which we identify heterozygous variants in 119 individuals with NDD...
April 9, 2024: medRxiv
#12
Jared Morse, Danna Wang, Serena Mei, Danielle Whitham, Colby Hladun, Costel C Darie, Herman O Sintim, Modi Wang, KaHo Leung
UNLABELLED: The cGAS-STING signaling pathway has emerged as a key mediator of inflammation. However, the roles of chloride homeostasis on this pathway are unclear. Here, we uncovered a correlation between chloride homeostasis and cGAS-STING signaling. We found that dysregulation of chloride homeostasis attenuates cGAS-STING signaling in a lysosome-independent manner. Treating immune cells with chloride channel inhibitors attenuated 2'3'-cGAMP production by cGAS and also suppressed STING polymerization, leading to reduced cytokine production...
April 9, 2024: bioRxiv
#13
JOURNAL ARTICLE
Ian H Harding, Muhammad Ikhsan Nur Karim, Louisa P Selvadurai, Louise A Corben, Martin B Delatycki, Serena Monti, Francesco Saccà, Nellie Georgiou-Karistianis, Sirio Cocozza, Gary F Egan
BACKGROUND: The dentate nuclei of the cerebellum are key sites of neuropathology in Friedreich ataxia (FRDA). Reduced dentate nucleus volume and increased mean magnetic susceptibility, a proxy of iron concentration, have been reported by magnetic resonance imaging studies in people with FRDA. Here, we investigate whether these changes are regionally heterogeneous. METHODS: Quantitative susceptibility mapping data were acquired from 49 people with FRDA and 46 healthy controls...
April 22, 2024: Movement Disorders: Official Journal of the Movement Disorder Society
#14
JOURNAL ARTICLE
Meghan Sharma, Laura Huertas, Serena Shah, Alexandra Gil, Elena Bitrian, Ta C Chang
This is a cross-sectional exploratory analysis of publicly available Internet data to examine compliance to web content accessibility guidelines (WCAG) on patient education social media posts in ophthalmology. WCAG ensures web content accessibility for those with disabilities (including visual impairment). A total of 100 social media posts were sampled from ten ophthalmology patient education social media pages and ten non-ophthalmology (cardiopulmonary) pages as the comparison group. Three independent graders evaluated the selected posts based on the WCAG 2 checklist by WebAIM, a non-profit affiliated with Utah State University, after its adaptation for social media posts...
April 21, 2024: Scientific Reports
#15
JOURNAL ARTICLE
Leticia Camargo Tavares, Esteban Alexander Lopera-Maya, Ferdinando Bonfiglio, Tenghao Zheng, Trishla Sinha, Francine Zanchetta Marques, Alexandra Zhernakova, Serena Sanna, Mauro D'Amato
BACKGROUND & AIMS: Irritable bowel syndrome (IBS) shows genetic predisposition, and large-scale genome-wide association studies (GWAS) are emerging, based on heterogeneous disease definitions. We aimed at investigating the genetic architecture of IBS defined according to gold-standard Rome Criteria. METHODS: We conducted GWAS meta-analyses of Rome III IBS and its subtypes in 24,735 IBS cases and 77,149 asymptomatic controls from two independent European cohorts (UK Biobank and Lifelines)...
April 18, 2024: Cellular and Molecular Gastroenterology and Hepatology
#16
JOURNAL ARTICLE
Mia Moore, Yifan Zhu, Ian Hirsch, Tom White, Robert C Reiner, Ryan M Barber, David Pigott, James K Collins, Serena Santoni, Magdalena E Sobieszczyk, Holly Janes
While rapid development and roll out of COVID-19 vaccines is necessary in a pandemic, the process limits the ability of clinical trials to assess longer-term vaccine efficacy. We leveraged COVID-19 surveillance data in the U.S. to evaluate vaccine efficacy in U.S. Government-funded COVID-19 vaccine efficacy trials with a three-step estimation process. First, we used a compartmental epidemiological model informed by county-level surveillance data, a "population model", to estimate SARS-CoV-2 incidence among the unvaccinated...
April 15, 2024: Epidemics
#17
JOURNAL ARTICLE
Serena Boccella, Michela Perrone, Antimo Fusco, Roozbe Bonsale, Rosmara Infantino, Silvia Nuzzo, Giovanni Pecoraro, Federica Ricciardi, Andrea Maria Morace, Gianluca Petrillo, Ilaria Leone, Monica Franzese, Vito de Novellis, Francesca Guida, Marco Salvatore, Sabatino Maione, Livio Luongo
Vestibulodynia is a complex pain disorder characterized by chronic discomfort in the vulvar region, often accompanied by tactile allodynia and spontaneous pain. In patients a depressive behaviour is also observed. In this study, we have used a model of vestibulodynia induced by complete Freund's adjuvant (CFA) focusing our investigation on the spinal cord neurons and microglia. We investigated tactile allodynia, spontaneous pain, and depressive-like behavior as key behavioral markers of vestibulodynia. In addition, we conducted in vivo electrophysiological recordings to provide, for the first time to our knowledge, the characterization of the spinal sacral neuronal activity in the L6-S1 dorsal horn of the spinal cord...
April 16, 2024: Brain, Behavior, and Immunity
#18
JOURNAL ARTICLE
Natalie Griffiths, Vanessa Bowden, Serena Wee, Luke Strickland, Shayne Loft
Humans working in modern work systems are increasingly required to supervise task automation. We examined whether manual aircraft conflict detection skill predicted participants' ability to respond to conflict detection automation failures in simulated air traffic control. In a conflict discrimination task (to assess manual skill), participants determined whether pairs of aircraft were in conflict or not by judging their relative-arrival time at common intersection points. Then in a simulated air traffic control task, participants supervised automation which either partially or fully detected and resolved conflicts on their behalf...
April 16, 2024: Applied Ergonomics
#19
JOURNAL ARTICLE
Marco Fornaro, Roberto Caporali, Martina Biggioggero, Serena Bugatti, Ludovico De Stefano, Alberto Cauli, Mattia Congia, Fabrizio Conti, Maria Sole Chimenti, Chiara Bazzani, Simone Perniola, Fabiola Atzeni, Giovanni Lapadula, Gianfranco Ferraccioli, Florenzo Iannone
OBJECTIVES: The aim of this study was to evaluate the effectiveness and safety profile of filgotinib, a JAK1 preferential inhibitor, in rheumatoid arthritis (RA) patients included in Italian GISEA (Group for the Study of Early Arthritis) registry. METHODS: Data from RA patients treated with filgotinib, recorded in the GISEA registry, were analysed. Disease activity scores and patient-reported outcomes (PROs) were assessed at baseline, as well as during 12-month follow-up...
April 17, 2024: Clinical and Experimental Rheumatology
#20
JOURNAL ARTICLE
Lindsay McAlpine, Adeel S Zubair, Phillip Joseph, Serena Spudich
OBJECTIVES: To report a case-control study of new-onset small fiber neuropathy (SFN) after COVID-19 with invasive cardiopulmonary exercise testing (iCPET). SFN is a critical objective finding in long COVID and amenable to treatment. METHODS: A retrospective chart review was conducted on patients seen in the NeuroCOVID Clinic at Yale who developed new-onset SFN after a documented COVID-19 illness. We collected demographics, symptoms, skin biopsy, iCPET testing, treatments, and clinical response to treatment or no intervention...
May 2024: Neurology® Neuroimmunology & Neuroinflammation
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