keyword
https://read.qxmd.com/read/38483335/a-wearable-system-for-visual-cueing-gait-rehabilitation-in-parkinson-s-disease-a-randomized-non-inferiority-trial
#21
JOURNAL ARTICLE
Michelangelo Bartolo, Alberto Castelli, Marzia Calabrese, Giampiero Buttacchio, Chiara Zucchella, Stefano Tamburin, Andrea Fontana, Massimiliano Copetti, Alfonso Fasano, Domenico Intiso
BACKGROUND: Gait disturbances represent one of the most disabling features of Parkinson's disease (PD). AIM: The aim of this study was to evaluate the non-inferiority of a new wearable visual cueing system (Q-Walk) for gait rehabilitation in PD subjects, compared to traditional visual cues (stripes on the floor). DESIGN: Open-label, monocentric, randomized controlled non-inferiority trial. SETTING: Outpatients. POPULATION: Patients affected by idiopathic PD without cognitive impairment, Hoehn and Yahr stage II-IV, Unified Parkinson's Disease Rating Scale motor section III ≥2, stable drug usage since at least 3 weeks...
March 14, 2024: European Journal of Physical and Rehabilitation Medicine
https://read.qxmd.com/read/38473330/translational-insights-in-the-landscape-of-salivary-gland-cancers-ready-for-a-new-era
#22
REVIEW
Francesco Perri, Roberta Fusco, Francesco Sabbatino, Morena Fasano, Alessandro Ottaiano, Marco Cascella, Maria Luisa Marciano, Monica Pontone, Giovanni Salzano, Maria Elena Maiello, Massimo Montano, Ester Calogero, Roberta D'Aniello, Piera Maiolino, Fortunato Ciardiello, Alessia Zotta, Salvatore Alfieri, Franco Ionna
Salivary gland carcinomas (SGCs) are rare neoplasms, representing less than 10% of all head and neck tumors, but they are extremely heterogeneous from the histological point of view, their clinical behavior, and their genetics. The guidelines regarding their treatment include surgery in most cases, which can also play an important role in oligometastatic disease. Where surgery cannot be used, systemic therapy comes into play. Systemic therapy for many years has been represented by polychemotherapy, but recently, with the affirmation of translational research, it can also count on targeted therapy, at least in some subtypes of SGCs...
February 28, 2024: Cancers
https://read.qxmd.com/read/38457161/implementation-of-a-robot-mediated-upper-limb-rehabilitation-protocol-for-a-customized-treatment-after-stroke-a-retrospective-analysis
#23
JOURNAL ARTICLE
Arianna Pavan, Alessio Fasano, Laura Cortellini, Stefania Lattanzi, Dionysia Papadopoulou, Sabina Insalaco, Marco Germanotta, Irene Aprile
BACKGROUND: Many authors have emphasized the need for individualized treatments in rehabilitation, but no tailored robotic rehabilitation protocol for stroke patients has been established yet. OBJECTIVE: To evaluate the effectiveness of a robot-mediated upper limb rehabilitation protocol based on clinical assessment for customized treatment of stroke patients. METHODS: Clinical data from 81 patients with subacute stroke, undergoing an upper limb robot-mediated rehabilitation, were analyzed retrospectively...
March 5, 2024: NeuroRehabilitation
https://read.qxmd.com/read/38454478/freezing-of-gait-in-idiopathic-normal-pressure-hydrocephalus
#24
JOURNAL ARTICLE
Carl-Johan Kihlstedt, Jan Malm, Alfonso Fasano, David Bäckström
BACKGROUND: Reports of freezing of gait (FoG) in idiopathic normal pressure hydrocephalus (iNPH) are few and results are variable. This study's objective was to evaluate the frequency of FoG in a large cohort of iNPH patients, identify FoG-associated factors, and assess FoG's responsiveness to shunt surgery. METHODS: Videotaped standardized gait protocols with iNPH patients pre- and post-shunt surgery (n = 139; median age 75 (71-79) years; 48 women) were evaluated for FoG episodes by two observers (Cohens kappa = 0...
March 8, 2024: Fluids and Barriers of the CNS
https://read.qxmd.com/read/38450221/proceedings-of-the-11th-annual-deep-brain-stimulation-think-tank-pushing-the-forefront-of-neuromodulation-with-functional-network-mapping-biomarkers-for-adaptive-dbs-bioethical-dilemmas-ai-guided-neuromodulation-and-translational-advancements
#25
JOURNAL ARTICLE
Kara A Johnson, Nico U F Dosenbach, Evan M Gordon, Cristin G Welle, Kevin B Wilkins, Helen M Bronte-Stewart, Valerie Voon, Takashi Morishita, Yuki Sakai, Amanda R Merner, Gabriel Lázaro-Muñoz, Theresa Williamson, Andreas Horn, Ro'ee Gilron, Jonathan O'Keeffe, Aryn H Gittis, Wolf-Julian Neumann, Simon Little, Nicole R Provenza, Sameer A Sheth, Alfonso Fasano, Abbey B Holt-Becker, Robert S Raike, Lisa Moore, Yagna J Pathak, David Greene, Sara Marceglia, Lothar Krinke, Huiling Tan, Hagai Bergman, Monika Pötter-Nerger, Bomin Sun, Laura Y Cabrera, Cameron C McIntyre, Noam Harel, Helen S Mayberg, Andrew D Krystal, Nader Pouratian, Philip A Starr, Kelly D Foote, Michael S Okun, Joshua K Wong
The Deep Brain Stimulation (DBS) Think Tank XI was held on August 9-11, 2023 in Gainesville, Florida with the theme of "Pushing the Forefront of Neuromodulation". The keynote speaker was Dr. Nico Dosenbach from Washington University in St. Louis, Missouri. He presented his research recently published in Nature inn a collaboration with Dr. Evan Gordon to identify and characterize the somato-cognitive action network (SCAN), which has redefined the motor homunculus and has led to new hypotheses about the integrative networks underpinning therapeutic DBS...
2024: Frontiers in Human Neuroscience
https://read.qxmd.com/read/38423010/bi-allelic-variants-in-snf8-cause-a-disease-spectrum-ranging-from-severe-developmental-and-epileptic-encephalopathy-to-syndromic-optic-atrophy
#26
JOURNAL ARTICLE
Melanie Brugger, Antonella Lauri, Yan Zhen, Laura L Gramegna, Benedikt Zott, Nikolina Sekulić, Giulia Fasano, Robert Kopajtich, Viviana Cordeddu, Francesca Clementina Radio, Cecilia Mancini, Simone Pizzi, Graziamaria Paradisi, Ginevra Zanni, Gessica Vasco, Rosalba Carrozzo, Flavia Palombo, Caterina Tonon, Raffaele Lodi, Chiara La Morgia, Maria Arelin, Cristiane Blechschmidt, Tom Finck, Vigdis Sørensen, Kornelia Kreiser, Gertrud Strobl-Wildemann, Hagit Daum, Rachel Michaelson-Cohen, Lucia Ziccardi, Giuseppe Zampino, Holger Prokisch, Rami Abou Jamra, Claudio Fiorini, Thomas Arzberger, Juliane Winkelmann, Leonardo Caporali, Valerio Carelli, Harald Stenmark, Marco Tartaglia, Matias Wagner
The endosomal sorting complex required for transport (ESCRT) machinery is essential for membrane remodeling and autophagy and it comprises three multi-subunit complexes (ESCRT I-III). We report nine individuals from six families presenting with a spectrum of neurodevelopmental/neurodegenerative features caused by bi-allelic variants in SNF8 (GenBank: NM_007241.4), encoding the ESCRT-II subunit SNF8. The phenotypic spectrum included four individuals with severe developmental and epileptic encephalopathy, massive reduction of white matter, hypo-/aplasia of the corpus callosum, neurodevelopmental arrest, and early death...
February 21, 2024: American Journal of Human Genetics
https://read.qxmd.com/read/38391662/assessment-of-postural-control-in-children-with-movement-disorders-by-means-of-a-new-technological-tool-a-pilot-study
#27
JOURNAL ARTICLE
Valentina Menici, Roberta Scalise, Alessio Fasano, Egidio Falotico, Nevio Dubbini, Giuseppe Prencipe, Giuseppina Sgandurra, Silvia Filogna, Roberta Battini
Considering the variability and heterogeneity of motor impairment in children with Movement Disorders (MDs), the assessment of postural control becomes essential. For its assessment, only a few tools objectively quantify and recognize the difference among children with MDs. In this study, we use the Virtual Reality Rehabilitation System (VRRS) for assessing the postural control in children with MD. Furthermore, 16 children (mean age 10.68 ± 3.62 years, range 4.29-18.22 years) were tested with VRRS by using a stabilometric balance platform...
February 11, 2024: Bioengineering
https://read.qxmd.com/read/38370801/sars-cov-2-infection-elucidates-unique-features-of-pregnancy-specific-immunity
#28
Dong Sun Oh, Eunha Kim, Guangqing Lu, Rachelly Normand, Lydia L Shook, Amanda Lyall, Olyvia Jasset, Stepan Demidkin, Emily Gilbert, Joon Kim, Babatunde Akinwunmi, Jessica Tantivit, Alice Tirard, Benjamin Y Arnold, Kamil Slowikowski, Marcia B Goldberg, Michael R Filbin, Nir Hacohen, Long H Nguyen, Andrew T Chan, Xu G Yu, Jonathan Z Li, Lael Yonker, Alessio Fasano, Roy H Perlis, Ofer Pasternak, Kathryn J Gray, Gloria B Choi, David A Drew, Pritha Sen, Alexandra-Chloé Villani, Andrea G Edlow, Jun R Huh
Pregnancy is a risk factor for increased severity of SARS-CoV-2 and other respiratory infections. The mechanisms underlying this risk have not been well-established, partly due to a limited understanding of how pregnancy shapes immune responses. To gain insight into the role of pregnancy in modulating immune responses at steady state and upon perturbation, we collected peripheral blood mononuclear cells (PBMC), plasma, and stool from 226 women, including 152 pregnant individuals (n = 96 with SARS-CoV-2 infection and n = 56 healthy controls) and 74 non-pregnant women (n = 55 with SARS-CoV-2 and n = 19 healthy controls)...
February 7, 2024: medRxiv
https://read.qxmd.com/read/38352680/first-total-synthesis-of-caerulomycin-k-a-case-study-on-selective-multiple-c-h-functionalizations-of-pyridines
#29
JOURNAL ARTICLE
Alessandro Dimasi, Mattia Failla, Arianna Montoli, Andrea Citarella, Paolo Ronchi, Daniele Passarella, Valerio Fasano
Caerulomycins, natural alkaloids with antimicrobial properties, have been previously synthesized starting with highly pre-functionalized building blocks or requiring many functional group manipulations. In this work, we report the first total synthesis of caerulomycin K, a diversely trifunctionalized pyridine readily assembled in three steps exploiting the recent advancements in the C-H activation of N-heterocycles.
February 7, 2024: RSC Advances
https://read.qxmd.com/read/38331792/modified-blade-an-interventional-option-in-rigid-bronchoscopy-for-non-resectable-benign-tracheal-stenosis
#30
JOURNAL ARTICLE
Gaetana Messina, Vincenzo Di Filippo, Francesca Capasso, Maria Antonietta Puca, Beatrice Leonardi, Mario Grande, Anna Rainone, Francesco Leone, Giuseppe Vicario, Simona De Gregorio, Giuseppe Cerullo, Antonio Ponticiello, Mario Pirozzi, Stefano Farese, Alessia Zotta, Giovanni Natale, Giovanni Messina, Giovanni Vicidomini, Alfonso Fiorelli, Fortunato Ciardiello, Morena Fasano
INTRODUCTION: Benign tracheobronchial stenosis is a abnormal tracheal lumen narrowing that may incur progressive dyspnea and life-threatening hypoxemia. There is no consensus on which patients should be treated with endoscopic or surgical method. This study investigates the outcomes of bronchoscopic dilatation in the treatment of benign tracheal stenosis using a device equipped with a blade to cut the stenotic lesions with dense fibrosis. MATERIALS AND METHODS: The procedure was carried out in an operating room under general anesthesia...
February 8, 2024: Journal of Cardiothoracic Surgery
https://read.qxmd.com/read/38316194/statistical-analysis-and-generative-artificial-intelligence-ai-for-assessing-pain-experience-pain-induced-disability-and-quality-of-life-in-parkinson-s-disease-patients
#31
JOURNAL ARTICLE
Luana Conte, Roberto Lupo, Pierluigi Lezzi, Alessio Pedone, Ivan Rubbi, Alessia Lezzi, Elsa Vitale, Antonio Fasano, Giorgio De Nunzio
The Parkinson's Disease (PD) is a chronic neurodegenerative condition characterized by motor symptoms such as tremors, rigidity, and bradykinesia, which can significantly impact various aspects of daily life. Among these aspects, pain is a prominent element. Despite the widespread use of therapies aimed at improving symptoms and quality of life, effective pain management is essential to enhance the quality of life of individuals affected by this disease. However, a detailed understanding of the factors associated with pain in PD is still evolving...
February 3, 2024: Brain Research Bulletin
https://read.qxmd.com/read/38314476/results-of-clinical-effectiveness-of-conventional-versus-mirasol-treated-apheresis-platelets-in-patients-with-hypoproliferative-thrombocytopenia-miplate-trial
#32
JOURNAL ARTICLE
Scott A Koepsell, Moritz Stolla, Rebecca L Sedjo, Jeffrey Carson, Michael Knudson, Richard Cook, Ross Fasano, Samantha G Ngamsuntikul, Claudia Cohn, Jed Gorlin, Meghan Delaney, Sherrill Slichter, Paul Ness, Jeffrey McCullough
BACKGROUND: The Mirasol® Pathogen Reduction Technology System was developed to reduce transfusion-transmitted diseases in platelet (PLT) products. STUDY DESIGN AND METHODS: MiPLATE trial was a prospective, multicenter, controlled, randomized, non-inferiority (NI) study of the clinical effectiveness of conventional versus Mirasol-treated Apheresis PLTs in participants with hypoproliferative thrombocytopenia. The novel primary endpoint was days of ≥Grade 2 bleeding with an NI margin of 1...
February 5, 2024: Transfusion
https://read.qxmd.com/read/38291080/humoral-profiles-of-toddlers-and-young-children-following-sars-cov-2-mrna-vaccination
#33
JOURNAL ARTICLE
Nadège Nziza, Yixiang Deng, Lianna Wood, Navneet Dhanoa, Naomi Dulit-Greenberg, Tina Chen, Abigail S Kane, Zoe Swank, Jameson P Davis, Melina Demokritou, Anagha P Chitnis, Alessio Fasano, Andrea G Edlow, Nitya Jain, Bruce H Horwitz, Ryan P McNamara, David R Walt, Douglas A Lauffenburger, Boris Julg, Wayne G Shreffler, Galit Alter, Lael M Yonker
Although young children generally experience mild symptoms following infection with SARS-CoV-2, severe acute and long-term complications can occur. SARS-CoV-2 mRNA vaccines elicit robust immunoglobulin profiles in children ages 5 years and older, and in adults, corresponding with substantial protection against hospitalizations and severe disease. Whether similar immune responses and humoral protection can be observed in vaccinated infants and young children, who have a developing and vulnerable immune system, remains poorly understood...
January 30, 2024: Nature Communications
https://read.qxmd.com/read/38289184/rh-genotypes-and-red-cell-alloimmunization-rates-in-chronically-transfused-patients-with-sickle-cell-disease-a-multisite-study-in-the-usa
#34
JOURNAL ARTICLE
Narek Israelyan, Sunitha Vege, David F Friedman, Zhe Zhang, Stacey Uter, Ross M Fasano, Marianne Yee, Connie Piccone, Shannon Kelly, Jane S Hankins, Yan Zheng, Connie M Westhoff, Stella T Chou
BACKGROUND: Red cell alloimmunization remains a challenge for individuals with sickle cell disease (SCD) and contributes to increased risk of hemolytic transfusion reactions and associated comorbidities. Despite prophylactic serological matching for ABO, Rh, and K, red cell alloimmunization persists, in part, due to a high frequency of variant RH alleles in patients with SCD and Black blood donors. STUDY DESIGN AND METHODS: We compared RH genotypes and rates of alloimmunization in 342 pediatric and young adult patients with SCD on chronic transfusion therapy exposed to >90,000 red cell units at five sites across the USA...
January 30, 2024: Transfusion
https://read.qxmd.com/read/38272025/genetic-variants-affecting-nqo1-protein-levels-impact-the-efficacy-of-idebenone-treatment-in-leber-hereditary-optic-neuropathy
#35
JOURNAL ARTICLE
Serena Jasmine Aleo, Valentina Del Dotto, Martina Romagnoli, Claudio Fiorini, Giada Capirossi, Camille Peron, Alessandra Maresca, Leonardo Caporali, Mariantonietta Capristo, Concetta Valentina Tropeano, Claudia Zanna, Fred N Ross-Cisneros, Alfredo A Sadun, Maria Gemma Pignataro, Carla Giordano, Chiara Fasano, Andrea Cavaliere, Anna Maria Porcelli, Gaia Tioli, Francesco Musiani, Alessia Catania, Costanza Lamperti, Stefania Bianchi Marzoli, Annamaria De Negri, Maria Lucia Cascavilla, Marco Battista, Piero Barboni, Michele Carbonelli, Giulia Amore, Chiara La Morgia, Dmitrii Smirnov, Catalina Vasilescu, Aiman Farzeen, Beryll Blickhaeuser, Holger Prokisch, Claudia Priglinger, Bettina Livonius, Claudia B Catarino, Thomas Klopstock, Valeria Tiranti, Valerio Carelli, Anna Maria Ghelli
Idebenone, the only approved treatment for Leber hereditary optic neuropathy (LHON), promotes recovery of visual function in up to 50% of patients, but we can neither predict nor understand the non-responders. Idebenone is reduced by the cytosolic NAD(P)H oxidoreductase I (NQO1) and directly shuttles electrons to respiratory complex III, bypassing complex I affected in LHON. We show here that two polymorphic variants drastically reduce NQO1 protein levels when homozygous or compound heterozygous. This hampers idebenone reduction...
January 17, 2024: Cell reports medicine
https://read.qxmd.com/read/38254134/an-insidious-rectus-abdominis-muscle-injury-in-an-elite-volleyball-player-a-case-report
#36
JOURNAL ARTICLE
Federico Giarda, Diego Contro, Maurizio Fasano, Mirko Poli, Maurizio Giacchino
BACKGROUND: Structural muscle injuries are characterized by acute and localized onset of pain. Abdominal muscle injuries are an insidious pathology in overhead athletes. However, only a few cases are reported in literature related to volleyball players, where clinical presentation may not have reflected the severity of the lesion. CASE PRESENTATION: An elite volleyball player, a 21-year-old Caucasian female, reported the onset of mild abdominal muscular pain, confirmed on clinical evaluation findings and self-reported symptoms...
January 23, 2024: Journal of Medical Case Reports
https://read.qxmd.com/read/38251064/another-step-forward-for-freezing-of-gait-in-parkinson-s-disease
#37
JOURNAL ARTICLE
Anton Fomenko, Alfonso Fasano, Suneil K Kalia
The study "A spinal cord neuroprosthesis for locomotor deficits due to Parkinson's disease" by Milekovic et al. introduces a novel neuroprosthesis for treating locomotor deficits in late-stage Parkinson's disease (PD). This approach employs an epidural spinal array targeting dorsal roots and electromyography to create a spatiotemporal map of muscle activation, aiming to restore natural gait patterns. Significant improvements in gait freezing and balance were observed in both non-human primate models and a human patient, resulting in improved mobility and quality of life...
January 11, 2024: Journal of Parkinson's Disease
https://read.qxmd.com/read/38235854/electroencephalographic-%C3%AE-band-oscillations-in-the-sensorimotor-network-reflect-motor-symptom-severity-in-amyotrophic-lateral-sclerosis
#38
JOURNAL ARTICLE
Stefan Dukic, Antonio Fasano, Amina Coffey, Teresa Buxó, Roisin McMackin, Rangariroyashe Chipika, Mark Heverin, Peter Bede, Muthuraman Muthuraman, Madeleine Lowery, Richard G Carson, Orla Hardiman, Bahman Nasseroleslami
BACKGROUND AND PURPOSE: Resting-state electroencephalography (EEG) holds promise for assessing brain networks in amyotrophic lateral sclerosis (ALS). We investigated whether neural β-band oscillations in the sensorimotor network could serve as an objective quantitative measure of progressive motor impairment and functional disability in ALS patients. METHODS: Resting-state EEG was recorded in 18 people with ALS and 38 age- and gender-matched healthy controls...
January 18, 2024: European Journal of Neurology
https://read.qxmd.com/read/38233325/dystonia-and-parkinsonism-not-an-easy-combo
#39
JOURNAL ARTICLE
Marcela Montiel, Alfonso Fasano
No abstract text is available yet for this article.
January 15, 2024: Parkinsonism & related Disorders
https://read.qxmd.com/read/38201484/understanding-the-genetic-landscape-of-pancreatic-ductal-adenocarcinoma-to-support-personalized-medicine-a-systematic-review
#40
REVIEW
Antonino Pantaleo, Giovanna Forte, Candida Fasano, Martina Lepore Signorile, Paola Sanese, Katia De Marco, Elisabetta Di Nicola, Marialaura Latrofa, Valentina Grossi, Vittoria Disciglio, Cristiano Simone
Pancreatic ductal adenocarcinoma (PDAC) is one of the most fatal malignancies worldwide. While population-wide screening recommendations for PDAC in asymptomatic individuals are not achievable due to its relatively low incidence, pancreatic cancer surveillance programs are recommended for patients with germline causative variants in PDAC susceptibility genes or a strong family history. In this study, we sought to determine the prevalence and significance of germline alterations in major genes ( ATM , BRCA1 , BRCA2 , CDKN2A , EPCAM , MLH1 , MSH2 , MSH6 , PALB2 , PMS2 , STK11 , TP53 ) involved in PDAC susceptibility...
December 21, 2023: Cancers
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