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Mitochondria replacement from transplanted amniotic fluid stem cells:a promising therapy for non-neuronal defects in spinal muscular atrophy

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Neural Regeneration research 2024年第5期19卷 971-972页

作者： Michela Pozzobon Camilla Bean Women’s and Children’s Health Department University of Padova Foundation institute of pediatric research cittàdella speranza PadovaItaly Department of Medicine University of UdineUdineItaly

Spinal muscular atrophy(SMA)is a genetic disorder that primarily affects infants and leads to muscle weakness,atrophy,and *** main cause is the homozygous mutation or deletion of the SMN1 gene,resulting in inadequate levels of the survival motor neuron(SMN)*** treatments focus on restoring SMN levels through various approaches,but there is a need for“SMN-independent”therapies that target other pathological *** muscle is closely involved in SMA pathology,with impaired muscle function observed before motor neuron *** have revealed that SMN loss leads to skeletal muscle mitochondrial structural abnormalities,impaired respiration,and accumulation of reactive oxygen species.

关键词： impaired atrophy muscular

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Plasma small-extracellular vesicles enriched in miR-122-5p promote disease aggressiveness in pediatric anaplastic large-cell lymphoma

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Cancer Communications 2023年第5期43卷 630-634页

作者： Carlotta Caterina Damanti Lavinia Ferrone Enrico Gaffo Anna Garbin Anna Tosato Giorgia Contarini Ilaria Gallingani Roberta Angioni Barbara Molon Giulia Borile Elisa Carraro Marta Pillon Federico Scarmozzino Angelo Paolo Dei Tos Marco Pizzi Francesco Ciscato Andrea Rasola Alessandra Biffi Stefania Bortoluzzi Federica Lovisa Lara Mussolin Maternal and Child Health Department pediatric Hematology Oncology and Stem Cell Transplant CenterUniversity of PaduaPaduaItaly pediatric research institute“cittàdella speranza” PaduaItaly Department of Molecular Medicine University of PaduaPaduaItaly Department of Biomedical Sciences University of PaduaPaduaItaly General Pathology and Cytopathology Unit Department of Medicine-DMEDUniversity of PaduaPaduaItaly

Dear Editor,Anaplastic lymphoma kinase-positive(ALK+)anaplastic large cell lymphoma(ALCL)is an aggressive peripheral Tcell lymphoma representing 10%-15%of pediatric lymphoid *** constitutively activated nucleophosmin-ALK(NPM-ALK)fusion protein is the main driver of ALK+ALCL oncogenesis[1].Current clinical protocols can achieve high cure rates,with 75%event-free survival(EFS)at 5 years[2],but the patients’outcome with relapsed/refractory disease still remains poor[3].Liquid biopsy is widely applied for the prognostic and therapeutic stratification of onco-hematological *** a non-invasive procedure,it can be used to identify several biomarkers,such as small extracellular vesicles(S-EVs)[4].S-EVs are stable carriers of molecules that mediate genetic exchange between distant cells,alter the microenvironment,facilitate cancer cell progression and promote drug resistance[5].

关键词： lymphoma pediatric neoplasms

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Three-dimensional in vitro models of neuromuscular tissue

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Neural Regeneration research 2022年第4期17卷 759-766页

作者： Paolo Raffa Maria Easler Anna Urciuolo institute of pediatric research IRP PadovaItaly Molecular Medicine Department University of PadovaPadovaItaly

Skeletal muscle is a dynamic tissue in which homeostasis and function are guaranteed by a very defined three-dimensional organization of myofibers in respect to other nonmuscular components,including the extracellular matrix and the nervous *** particular,communication between myofibers and the nervous system is essential for the overall correct development and function of the skeletal muscle.A wide range of chronic,acute and genetic-based human pathologies that lead to the alteration of muscle function are associated with modified preservation of the fine interaction between motor neurons and myofibers at the neuromuscular *** advancements in the development of in vitro models for human skeletal muscle have shown that three-dimensionality and integration of multiple cell types are both key parameters required to unveil pathophysiological relevant ***,we describe recent achievement reached in skeletal muscle modeling which used biomaterials for the generation of three-dimensional constructs of myotubes integrated with motor neurons.

关键词： 3D organization bioengineering biomaterials motor neurons neuromuscular junction skeletal muscle models

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Covalent functionalization of decellularized tissues accelerates endothelialization

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Bioactive Materials 2021年第11期6卷 3851-3864页

作者： Eleonora Dal Sasso Annj Zamuner Andrea Filippi Filippo Romanato Tiziana Palmosi Luca Vedovelli Dario Gregori Jose Luís Gòmez Ribelles Teresa Russo Antonio Gloria Laura Iop Gino Gerosa Monica Dettin Department of Cardiac Thoracic and Vascular Sciences and Venetian Institute of Molecular MedicinePaduaItaly Department of Industrial Engineering University of PaduaPaduaItaly LIFELAB Program Consorzio per la Ricerca SanitariaCORISVeneto RegionItaly Department of Physics and Astronomy“G.Galilei” University of PaduaPaduaItaly Fondazione Bruno Kessler TrentoItaly institute of pediatric research citt`a della speranza PaduaItaly Center for Biomaterials and Tissue Engineering CBITUniversitat Polit`ecnica de Val`enciaVal`enciaSpain Biomedical research Networking Center on Bioengineering Biomaterials and Nanomedicine(CIBER-BBN)ValenciaSpain institute of Polymers Composites and BiomaterialsNational Research Council of ItalyNaplesItaly

In the field of tissue regeneration,the lack of a stable endothelial lining may affect the hemocompatibility of both synthetic and biological *** drawbacks might be prevented by specific biomaterial functionalization to induce selective endothelial cell(EC)*** bovine pericardia and porcine aortas were selectively functionalized with a REDV tetrapeptide at 10^(-5)M and 10^(-6)M working *** scaffold-bound peptide was quantified and REDV potential EC adhesion enhancement was evaluated in vitro by static seeding of human umbilical vein *** viable cells and MTS production were statistically higher in functionalized tissues than in *** histoarchitecture,geometrical features,and mechanical properties were unaffected by peptide *** selective immobilization of REDV was effective in accelerating ECs adhesion while promoting proliferation in functionalized decellularized tissues intended for blood-contacting applications.

关键词： Decellularized pericardium Decellularized aorta Covalent functionalization Endothelialization REDV Mechanical analysis

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Expanding the genetic landscape of Rett syndrome to include lysine acetyltransferase 6A(KAT6A)

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Journal of Genetics and Genomics 2020年第10期47卷 650-654页

作者： Simranpreet Kaur Nicole J.Van Bergen Bruria Ben-Zeev Emanuela Leonardi Tiong Y.Tan David Coman Benjamin Kamien Susan M.White Miya St John Dean Phelan Kristin Rigbye Sze Chern Lim Michelle C.Torres Melanie Marty Elena Savva Teresa Zhao Sean Massey Alessandra Murgia Wendy A.Gold John Christodoulou Brain and Mitochondrial research Group Murdoch Children's Research InstituteMelbourneAustralia Department of Paediatrics University of MelbourneMelbourneAustralia Paediatric Neurology institute The Edmond and Lily Safra Paediatric HospitalSheba Medical CenterTel HaShomerIsrael Sackler School of Medicine Tel Aviv UniversityIsrael Molecular Genetics of Neurodevelopment Department of Woman and Child HealthUniversity of PadovaItaly Fondazione Istituto di Ricerca pediatrica(IRP) Citta della SperanzaPadovaItaly Victorian Clinical Genetics Services Murdoch Children's Research InstituteMelbourneAustralia Department of Paediatrics The Wesley HospitalBrisbaneBrisbaneAustralia Queensland Children's Hospital BrisbaneAustralia School of Medicine University of QueenslandBrisbaneAustralia Genetic Services of Western Australia Western AustraliaAustralia Faculty of Health and Medical Sciences University of Western AustraliaAustralia Speech and Language Murdoch Children's Research InstituteParkvilleVictoriaAustralia Department of Audiology and Speech Pathology University of MelbourneParkvilleVictoriaAustralia The University of Sydney School of Medical Sciences and Discipline of Child and Adolescent HealthFaculty of Medicine and HealthSydneyAustralia Molecular Neurobiology Lab Kids ResearchWestmead Children's HospitalWestmeadSydneyAustralia Kids Neuroscience Centre Kids ResearchChildren's Hospital at WestmeadWestmeadSydneyAustralia

Pathogenic variants in methyl-Cp G protein 2(MECP2;OMIM300005)result in an X-linked,severe,and progressive epigenetic disorder,Rett syndrome(RTT,OMIM:312750),that predominantly affects females(Rett,1966).Using Neul’s revised diagnostic criteria,affected individuals can be clinically classified as classic or atypical RTT(Neul et al.,2010).

关键词： Rett al. landscape

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Feasibility and safety of self-expandable metal stent in nonmalignant disease of the lower gastrointestinal tract

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World Journal of Gastrointestinal Endoscopy 2020年第2期12卷 60-71页

作者： Ludovica Venezia Andrea Michielan Giovanna Condino Emanuele Sinagra Elisa Stasi Marianna Galeazzi Carlo Fabbri Andrea Anderloni Gastroenterology Unit AOU Cittàdella Salute e della Scienza TurinTurin 10100Italy Gastroenterology and Digestive Endoscopy Unit Ospedale Santa ChiaraTrento 38122Italy Gastroenterology Unit Azienda Ospedaliera S.S.Antonio e Biagio e Cesare ArrigoAlessandria 15121Italy Gastroenterology and Endoscopy Unit Fondazione Istituto Giuseppe GiglioContrada Pietra Pollastra PisciottoCefalù90015Italy Euro-Mediterranean institute of Science and Technology(IEMEST) Palermo 90100Italy Gastroenterology Unit Department of Medicine“Vito Fazzi”HospitalLecce 73100Italy University of Milano-Bicocca School of Medicine and SurgeryMonza 20052Italy Gastroenterology and Digestive Endoscopy Unit Forlì-CesenaAzienda U.S.L.RomagnaOspedale G.Morgagni-L.PierantoniCesena 200868Italy Digestive Endoscopy Unit Humanitas Research HospitalMilan 20100Italy

In recent years,self-expandable metal stents(SEMSs)have been employed to treat benign gastrointestinal strictures secondary to several conditions:Acute diverticulitis,radiation colitis,inflammatory bowel disease(IBD),and postanastomotic leakages and *** applications include endometriosis and fistulas of the lower gastrointestinal *** it may be technically feasible to proceed to stenting in the aforementioned benign diseases of the lower gastrointestinal tract,the outcome has been reported to be *** fact,in some settings(such as complicated diverticulitis and postsurgical anastomotic strictures),stenting seems to have a limited evidence-based benefit as a bridge to surgery,while in other settings(such as endometriosis,IBD,radiation colitis,etc.),even society guidelines are not able to guide the endoscopist through decisional algorithms for SEMS *** aim of this narrative paper is to review the scientific evidence regarding the use of SEMSs in nonmalignant diseases of the lower gastrointestinal tract,both in adult and pediatric settings.

关键词： Self-expandable metal stents Lower gastrointestinal tract Benign strictures

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