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1. Biomarkers and Precision Therapy for Primary Immunodeficiencies: An In Vitro Study Based on Induced Pluripotent Stem Cells From Patients

Author

Elena Genova, Rosalba Monica Ferraro, Marco Pelin, Alberto Tommasini, Simona Orcesi, Marianna Lucafò, Gabriele Stocco, Stefania Masneri, Federica Cavion, Giuliana Decorti, Elisa Fazzi, Gaetana Lanzi, Silvia Giliani, Genova, E., Cavion, F., Lucafo, M., Pelin, M., Lanzi, G., Masneri, S., Ferraro, R. M., Fazzi, E. M., Orcesi, S., Decorti, G., Tommasini, A., Giliani, S., and Stocco, G.

Subjects
Aicardi-Goutières, 030226 pharmacology & pharmacy, 03 medical and health sciences, 0302 clinical medicine, medicine, Cytotoxic T cell, Pharmacology (medical), Aicardi-Goutière, Induced pluripotent stem cell, Dexamethasone, Lenalidomide, Pharmacology, Ataxia telangiectasia, Induced pluripotent stem cells, immunomodulators, business.industry, immunomodulator, medicine.disease, Mercaptopurine, Thalidomide, 030220 oncology & carcinogenesis, Ataxia-telangiectasia, Cancer research, business, Reprogramming, medicine.drug
Abstract

Ataxia telangiectasia (AT) and Aicardi–Goutières syndrome (AGS) are inherited disorders of immunity with prevalent neurological phenotype. Available treatments are only partially effective, and the prognosis is poor. Induced pluripotent stem cells (iPSCs) are obtained by reprogramming patient somatic cells, preserving the donor individual genetic heritage and creating patient-specific disease models, useful to investigate pathogenesis and drug effects and to develop precision therapies. The aim is to investigate the cytotoxicity of a panel of immunomodulators using iPSCs of patients with AT or different forms of AGS (AGS1, AGS2, and AGS7). iPSCs were obtained by reprogramming AT and AGS patients’ cells and, as a control, the BJ normal human fibroblast line, using Sendai virus. Cytotoxic effects of two drugs proposed to treat respectively AT and AGS (dexamethasone and mepacrine) were tested by the 3-(4,5-dimethylthiazol-2-yl)-2,5-diphenyltetrazolium bromide assay after 72 hours' exposure. Data were obtained also for other immunomodulatory drugs (thioguanine, mercaptopurine, thalidomide, and lenalidomide). Relative expression of genes involved in the tested drug pathways was analyzed. AGS7-derived iPSCs displayed altered viability when treated with a low dose of mepacrine and higher expression of cyclic guanosine monophosphate–adenosine monophosphate synthase, which is the main target for mepacrine action. AGS7-derived iPSCs were also more sensitive to thioguanine, while AGS2 and AT iPSCs were less sensitive to this medication than the BJ-iPSC. All iPSCs were equally sensitive to mercaptopurine and resistant to dexamethasone, thalidomide, and lenalidomide. This work establishes an innovative in vitro model that is useful to investigate the mechanisms of drugs potentially effective in AT and AGS.

Published
2020

2. Aerosol Jet® Printing of Poly(3,4-Ethylenedioxythiophene): Poly(Styrenesulfonate) onto Micropatterned Substrates for Neural Cells In Vitro Stimulation

Author

Miriam Seiti, Paola Serena Ginestra, Rosalba Monica Ferraro, Silvia Giliani, Rosaria Maria Vetrano, Elisabetta Ceretti, and Eleonora Ferraris

Subjects
Neural tissue engineering, Aerosol Jet® printing, Biomedical, Conductive polymers, Printing of electronics, Materials Science (miscellaneous), Industrial and Manufacturing Engineering, Biotechnology
Abstract

In neural tissue engineering (NTE), topographical, electrical, mechanical and/or biochemical stimulations are established methods to regulate neural cell activities in in vitro cultures. Aerosol Jet® Printing is here proposed as enabling technology to develop NTE integrated devices for electrically combined stimulations. The printability of a poly(3,4-ethylenedioxythiophene):poly(styrenesulfonate) (PEDOT: PSS) commercial ink onto a reference substrate was firstly investigated and the effect of the process parameters on the quality of printed lines was analyzed. The study was then extended for printing thick electrodes and interconnects; the print strategy was finally transferred to a silicon-based wafer with patterned microchannels of proven cellular adhesion and topographical guidance. The results showed values of electrical resistance equal to ~16 Ω for printed electrodes which are ~33 μm thick and ~2 mm wide. The electrical impedance of the final circuit in saline solution was detected in the range of 1 - 2 kΩ at 1 kHz, which is in line with the expectations for bioelectronic neural interfaces. However, cells viability assays on the commercial PEDOT: PSS ink demonstrated a dose dependent cytotoxic behavior. The potential cause is associated with the presence of a cytotoxic co-solvent in the ink's formulation, which is released in the medium culture, even after a post-sintering process on the printed electrodes. This work is a first step to develop innovative in vitro NTE devices via a printed electronic approach. It also sheds new insights the transfer of AJ® print strategies across different substrates, and biocompatibility of commercial PEDOT: PSS inks. ispartof: International Journal of Bioprinting vol:8 issue:1 pages:50-65 ispartof: location:Singapore status: published

Published
2022

3. Biocompatibility evaluation of encapsulated silver-based printed circuits for in-vitro long-term sensing devices

Author

Rosalba Monica Ferraro, Miriam Seiti, Paola Serena Ginestra, Elena Laura Mazzoldi, Eleonora Ferraris, Elisabetta Ceretti, Silvia Giliani, Ceretti, E, and Filice, L

Subjects
Engineering, Manufacturing, Silver nanoparticle inks, Technology, Materials Science, Biomaterials, Bioelectronics, Science & Technology, Engineering, biocompatibility, Materials Science, Printing of electronics, General Earth and Planetary Sciences, Engineering, Biomedical, General Environmental Science
Abstract

ispartof: pages:99-104 ispartof: V CIRP CONFERENCE ON BIOMANUFACTURING vol:110 pages:99-104 ispartof: 5th CIRP Conference on BioManufacturing (BioM) location:ITALY, Calabria date:22 Jun - 24 Jun 2022 status: published

Published
2022

4. Aerosol Jet

Author

Miriam, Seiti, Paola Serena, Ginestra, Rosalba Monica, Ferraro, Silvia, Giliani, Rosaria Maria, Vetrano, Elisabetta, Ceretti, and Eleonora, Ferraris

Abstract

In neural tissue engineering (NTE), topographical, electrical, mechanical and/or biochemical stimulations are established methods to regulate neural cell activities in

Published
2021

5. Case Report: The JAK-Inhibitor Ruxolitinib Use in Aicardi-Goutieres Syndrome Due to ADAR1 Mutation

Author

Marco Cattalini, Jessica Galli, Fiammetta Zunica, Rosalba Monica Ferraro, Marialuisa Carpanelli, Simona Orcesi, Giovanni Palumbo, Lorenzo Pinelli, Silvia Giliani, Elisa Fazzi, and Raffaele Badolato

Subjects
Mental development, Ruxolitinib, Mutation, Treatment response, Aicardi-Goutières syndrome, JAK-inhibitor, interferonopathies, ruxolitinib, type I interferon, business.industry, Older brother, Case Report, medicine.disease, medicine.disease_cause, Pediatrics, RJ1-570, Interferon, Immunology, Pediatrics, Perinatology and Child Health, medicine, Aicardi–Goutières syndrome, Janus kinase, business, medicine.drug
Abstract

Type I Interferonopathies comprise inherited inflammatory diseases associated with perturbation of the type I IFN response. Use of Janus kinase (JAK) inhibitors has been recently reported as possible tools for treating some of those rare diseases. We describe herein the clinical picture and treatment response to the JAK-inhibitor ruxolitinib in a 5-year-old girl affected by Aicardi-Goutières Syndrome type 6 (AGS6) due to ADAR1 mutation. The girl's interferon score (IS) was compared with that of her older brother, suffering from the same disorder, who was not treated. We observed a limited, but distinct neurological improvement (Gross Motor Function and Griffiths Mental Development Scales). Analysis of IS values of the two siblings during the treatment showed several changes, especially related to infections; the IS values of the child treated with ruxolitinib were consistently lower than those measured in her brother. Based on these observations we suggest that the use of ruxolitinib in children with the same condition might be effective in inhibiting type I interferon response and that starting this therapy at early age in children with AGS could mitigate the detrimental effects of type I interferon hyperproduction.

Published
2021

6. Selective Laser Melting and Electron Beam Melting of Ti6Al4V for Orthopedic Applications: A Comparative Study on the Applied Building Direction

Author

Elisabetta Ceretti, Keren Zohar-Hauber, Rosalba Monica Ferraro, Andrea Abeni, Paola Ginestra, and Silvia Giliani

Subjects
Materials science, Interface (computing), Mechanical engineering, 3D printing, 02 engineering and technology, lcsh:Technology, Osseointegration, Article, 03 medical and health sciences, 0302 clinical medicine, General Materials Science, titanium, Selective laser melting, lcsh:Microscopy, lcsh:QC120-168.85, electron beam melting, lcsh:QH201-278.5, Orientation (computer vision), business.industry, lcsh:T, Process (computing), Titanium alloy, osseointegration, 030206 dentistry, 021001 nanoscience & nanotechnology, powder bed fusion, lcsh:TA1-2040, selective laser melting, Building orientation, Electron beam melting, Powder bed fusion, Titanium, lcsh:Descriptive and experimental mechanics, lcsh:Electrical engineering. Electronics. Nuclear engineering, 0210 nano-technology, Reduction (mathematics), business, lcsh:Engineering (General). Civil engineering (General), lcsh:TK1-9971, building orientation
Abstract

The 3D printing process offers several advantages to the medical industry by producing complex and bespoke devices that accurately reproduce customized patient geometries. Despite the recent developments that strongly enhanced the dominance of additive manufacturing (AM) techniques over conventional methods, processes need to be continually optimized and controlled to obtain implants that can fulfill all the requirements of the surgical procedure and the anatomical district of interest. The best outcomes of an implant derive from optimal compromise and balance between a good interaction with the surrounding tissue through cell attachment and reduced inflammatory response mainly caused by a weak interface with the native tissue or bacteria colonization of the implant surface. For these reasons, the chemical, morphological, and mechanical properties of a device need to be designed in order to assure the best performances considering the in vivo environment components. In particular, complex 3D geometries can be produced with high dimensional accuracy but inadequate surface properties due to the layer manufacturing process that always entails the use of post-processing techniques to improve the surface quality, increasing the lead times of the whole process despite the reduction of the supply chain. The goal of this work was to provide a comparison between Ti6Al4V samples fabricated by selective laser melting (SLM) and electron beam melting (EBM) with different building directions in relation to the building plate. The results highlighted the influence of the process technique on osteoblast attachment and mineralization compared with the building orientation that showed a limited effect in promoting a proper osseointegration over a long-term period.

Published
2020
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7. Nebulized jet-based printing of bio-electrical scaffolds for neural tissue engineering: a feasibility study

Author

Paola Ginestra, Miriam Seiti, Rosalba Monica Ferraro, Elisabetta Ceretti, and Eleonora Ferraris

Subjects
Materials science, Silver, Biocompatibility, Cell Survival, 0206 medical engineering, Biomedical Engineering, Acrylic Resins, Metal Nanoparticles, Bioengineering, Nanotechnology, Biocompatible Materials, 02 engineering and technology, Carbon nanotube, Substrate (printing), neural tissue engineering, Biochemistry, Silver nanoparticle, law.invention, Neural tissue engineering, Biomaterials, Neural Stem Cells, law, Cell Adhesion, Humans, Electrical conductor, Tissue Engineering, Nanotubes, Carbon, Bioprinting, General Medicine, 021001 nanoscience & nanotechnology, 020601 biomedical engineering, Electrospinning, additive manufacturing, printed electronics, Printed electronics, Wettability, Feasibility Studies, Ink, Electronics, 0210 nano-technology, Biotechnology
Abstract

In this paper we investigate the application of a direct writing technique for printing conductive patterns onto a biocompatible electrospun-pyrolysed carbon-fibre-based substrate. The result is a first study towards the production of bio-electrical scaffolds that could be used to enhance the promotion of efficient connections among neurons for in vitro studies in the field of neural tissue engineering. An electrospinning process is employed for production of the materials derived from the precursor polyacrylonitrile, in which the embedding of carbon nanotubes (CNTs) is also investigated. Subsequently, the methodology of research into suitable parameters for the printed electronics, using a commercial silver nanoparticle (Øavg,particle size ∼ 100 nm) ink, is described. The results show values of 2 Ω cm for the resistivity of the carbon-fibre materials and conductive printed lines of resistance ∼50 Ω on glass and less than ∼140 Ω on carbon-fibre samples. Biocompatibility results demonstrate the possibility of using electrospun-pyrolysed mats, also with embedded CNTs, as potential neural substrates for spatially localized electrical stimulation across a tissue. In addition, the data concerning the potential toxicity of silver suspensions are in accordance with the literature, showing a dose-dependent behaviour. This work is a pioneering feasibility study of the use of the flexible and versatile printed electronic approach, combined with engineered biocompatible substrates, to realize integrated bio-electrical scaffolds for in vitro neural tissue engineering applications. ispartof: BIOFABRICATION vol:12 issue:2 ispartof: location:England status: published

Published
2020

8. Generation of 3 clones of induced pluripotent stem cells (iPSCs) from a patient affected by Autosomal Recessive Osteopetrosis due to mutations in TCIRG1 gene

Author

Cristina Sobacchi, Paolo Vezzoni, Silvia Giliani, Chiara Barisani, Giovanna Piovani, Rosalba Monica Ferraro, Anna Villa, Gaetana Lanzi, and Stefania Masneri

Subjects
Male, 0301 basic medicine, Vacuolar Proton-Translocating ATPases, Induced Pluripotent Stem Cells, Biology, medicine.disease_cause, Peripheral blood mononuclear cell, Bone resorption, 03 medical and health sciences, 0302 clinical medicine, Osteoclast, medicine, Humans, Induced pluripotent stem cell, Gene, lcsh:QH301-705.5, Mutation, Infant, Increased Bone Density, Cell Biology, General Medicine, biology.organism_classification, Molecular biology, Sendai virus, 030104 developmental biology, medicine.anatomical_structure, lcsh:Biology (General), Osteopetrosis, 030217 neurology & neurosurgery, Developmental Biology
Abstract

Autosomal recessive osteopetrosis (ARO) is a rare inherited disorder leading to increased bone density with impairment in bone resorption. Among the genes responsible for ARO, the TCIRG1 gene, coding for the a3 subunit of the osteoclast proton pump, is mutated in more than 50% of the cases, increasing the importance of TCIRG1-iPSCs as disease model. We generated 3 iPSC clones derived from Peripheral Blood Mononuclear Cells (PBMCs) of a patient carrying the heterozygous mutations p.Y512X and c.2236 + 1G > A. A Sendai virus-based vector was used and the iPSCs were characterized for genetic identity to parental cells, genomic integrity, pluripotency, and differentiation ability.

Published
2020

9. Carbonization of polymer precursors substrates to direct human iPSC-derived neurons differentiation and maturation

Author

Rosalba Monica Ferraro, Elisabetta Ceretti, Paola Ginestra, and Silvia Giliani

Subjects
0209 industrial biotechnology, Scaffold, carbonization, neural stem cells, patterning, Photolythography, pyrolysis, 02 engineering and technology, 010501 environmental sciences, 01 natural sciences, 020901 industrial engineering & automation, Expression analysis, 0105 earth and related environmental sciences, General Environmental Science, chemistry.chemical_classification, Carbonization, Polymer, Adhesion, Electrospinning, Neural stem cell, nervous system, chemistry, Biophysics, General Earth and Planetary Sciences, Pyrolysis
Abstract

In this work, precursor polymers were processed by electrospinning and photolithography. Polyacrilonitrile (PAN) fibers were obtained by electrospinning, while SU-8 high-resolution micro-patterns on silicon wafers were produced by photolithography. The substrates were subjected to thermal stabilization and pyrolysis to obtain carbon structures. iPSCs-derived Neural Stem Cells (NSCs) were cultured on the carbonized materials to analyze their adhesion and differentiation into neurons on the designed scaffolds. Results show that NSCs recognized the substrates and differentiated into neurons on both scaffold typologies. In order to evaluate differences among substrates used, neuronal marker expression analysis was performed.

Published
2020

10. Generation of induced pluripotent stem cell (iPSC) lines from a Joubert syndrome patient with compound heterozygous mutations in C5orf42 gene

Author

Eltahir Ali, Enza Maria Valente, Lucio Giordano, Elena Laura Mazzoldi, Valentina Serpieri, Rosalba Monica Ferraro, Stefania Masneri, Gaetana Lanzi, Silvia Giliani, and Giovanna Piovani

Subjects
0301 basic medicine, Induced Pluripotent Stem Cells, Biology, Compound heterozygosity, Joubert syndrome, Retina, Pathogenesis, 03 medical and health sciences, 0302 clinical medicine, Cerebellum, Female patient, medicine, Humans, Abnormalities, Multiple, Eye Abnormalities, Induced pluripotent stem cell, lcsh:QH301-705.5, Gene, Cell Differentiation, Cell Biology, General Medicine, Kidney Diseases, Cystic, medicine.disease, In vitro, 030104 developmental biology, lcsh:Biology (General), Mutation, Cancer research, Female, 030217 neurology & neurosurgery, Developmental Biology
Abstract

We have generated new disease-specific induced pluripotent stem cell (iPSC) lines from skin fibroblasts obtained from a female patient with Joubert syndrome (JS) caused by compound heterozygous mutations in C5orf42 gene. The generated iPSCs offer an unprecedented opportunity to obtain iPSC-derived neurons to investigate the pathogenesis of JS in vitro and to develop therapeutic strategies.

Published
2020

11. Generation of induced Pluripotent Stem Cells (UNIBSi008-A, UNIBSi008-B, UNIBSi008-C) from an Ataxia-Telangiectasia (AT) patient carrying a novel homozygous deletion in ATM gene

Author

A Soresina, Daniele Moratto, Raffaele Badolato, Gaetana Lanzi, Alessandro Plebani, Luigi Mori, Chiara Barisani, Silvia Giliani, Rosalba Monica Ferraro, Giovanna Piovani, and Stefania Masneri

Subjects
0301 basic medicine, Adult, DNA damage, Induced Pluripotent Stem Cells, Ataxia Telangiectasia Mutated Proteins, medicine.disease_cause, Peripheral blood mononuclear cell, 03 medical and health sciences, Exon, Ataxia Telangiectasia, Young Adult, 0302 clinical medicine, medicine, Humans, Induced pluripotent stem cell, lcsh:QH301-705.5, Cells, Cultured, Mutation, biology, Homozygote, Cell Differentiation, Cell Biology, General Medicine, medicine.disease, biology.organism_classification, Cellular Reprogramming, Molecular biology, In vitro, Sendai virus, 030104 developmental biology, lcsh:Biology (General), Ataxia-telangiectasia, Leukocytes, Mononuclear, Female, 030217 neurology & neurosurgery, Developmental Biology
Abstract

Using a Sendai Virus based vector delivering Yamanaka Factors, we generated induced Pluripotent Stem Cells (iPSCs) from peripheral blood mononuclear cells of a patient affected by Ataxia Telangiectasia (AT), caused by a novel homozygous deletion in ATM, spanning exons 5–7. Three clones were fully characterized for pluripotency and capability to differentiate. These clones preserved the causative mutation of parental cells and genomic stability over time (>100 passages). Furthermore, in AT derived iPSCs we confirmed the impaired DNA damage response after ionizing radiation. All these data underline potential usefulness of our clones as in vitro AT disease model.

Published
2019

12. IFN-α levels in ruxolitinib-treatead Aicardi-Goutières patient during SARS-CoV-2 infection: A case report

Author

Raffaele Badolato, Rosaria Scaduto, Elisa Fazzi, Simona Orcesi, Jessica Galli, Manuela Cortesi, Sara Roversi, Silvia Giliani, Rosalba Monica Ferraro, and Marco Cattalini

Subjects
Ruxolitinib, 2019-20 coronavirus outbreak, Coronavirus disease 2019 (COVID-19), Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), Immunology, Review Article, MDA-5, melanoma differentiation-associated protein 5, PKR, protein kinase R, Nitriles, medicine, Humans, RIG-I, retinoic acid-inducible gene I, Immunology and Allergy, IFN, interferon, Letter to the Editor, Innate immunity, Viral infections, A-to-I RNA editing, SARS-CoV-2, business.industry, COVID-19, Virology, ISG, interferon stimulated genes, Pyrimidines, eIF-2a, Eukaryotic translation initiation factor 2 subunit 1, RNA editing, Pyrazoles, RNA Editing, business, Mutations, IRF, interferon regulatory factor, medicine.drug
Abstract

RNA editing is a fundamental biological process with 2 major forms, namely adenosine-to-inosine (A-to-I, recognized as A-to-G) and cytosine-to-uracil (C-to-U) deamination, mediated by ADAR and APOBEC enzyme families, respectively. A-to-I RNA editing has been shown to directly affect the genome/transcriptome of RNA viruses with significant repercussions for viral protein synthesis, proliferation and infectivity, while it also affects recognition of double-stranded RNAs by cytosolic receptors controlling the host innate immune response. Recent evidence suggests that RNA editing may be present in SARS-CoV-2 genome/transcriptome. The majority of mapped mutations in SARS-CoV-2 genome are A-to-G/U-to-C(opposite strand) and C-to-U/G-to-A(opposite strand) substitutions comprising potential ADAR-/APOBEC-mediated deamination events. A single nucleotide substitution can have dramatic effects on SARS-CoV-2 infectivity as shown by the D614G(A-to-G) substitution in the spike protein. Future studies utilizing serial sampling from patients with COVID-19 are warranted to delineate whether RNA editing affects viral replication and/or the host immune response to SARS-CoV-2.

Published
2021

13. Generation of three isogenic induced Pluripotent Stem Cell lines (iPSCs) from fibroblasts of a patient with Aicardi Goutières Syndrome carrying a c.2471GA dominant mutation in IFIH1 gene

Author

Chiara Barisani, Simona Orcesi, Marco Muzi-Falconi, Elisa Fazzi, Giovanna Piovani, Stefania Masneri, Jessica Galli, Silvia Giliani, Giulia Savio, Rosalba Monica Ferraro, Gaetana Lanzi, Marco Cattalini, and Cristina Cereda

Subjects
0301 basic medicine, Male, Interferon-Induced Helicase, IFIH1, Adolescent, Induced Pluripotent Stem Cells, Cell Culture Techniques, Biology, medicine.disease_cause, Nervous System Malformations, Cell Line, 03 medical and health sciences, 0302 clinical medicine, Autoimmune Diseases of the Nervous System, medicine, Humans, Induced pluripotent stem cell, lcsh:QH301-705.5, Gene, Mutation, Base Sequence, Leukodystrophy, RNA, Reproducibility of Results, MDA5, Cell Biology, General Medicine, Fibroblasts, biology.organism_classification, medicine.disease, Molecular biology, Sendai virus, 030104 developmental biology, lcsh:Biology (General), Aicardi–Goutières syndrome, 030217 neurology & neurosurgery, Developmental Biology
Abstract

Aicardi-Goutières syndrome (AGS) is an early-onset monogenic encephalopathy characterized by intracranial calcification, leukodystrophy and cerebrospinal fluid lymphocytosis. To date, seven genes have been related to AGS. Among these, IFIH1 encodes for MDA5, a cytosolic double-stranded RNA receptor, and is responsible for AGS type 7. We generated three isogenic iPSC clones, using a Sendai virus-based vector, starting from fibroblasts of a patient carrying a dominant mutation in IFIH1. All lines were characterized for genomic integrity, genetic uniqueness, pluripotency, and differentiation capability. Our clones might offer a good model to investigate AGS7 pathophysiological mechanism and to discover new biomarkers for this condition treatment.

Published
2019

14. Generation of induced pluripotent stem cells (iPSCs) from patient with Cri du Chat Syndrome

Author

Chiara Barisani, Stefania Masneri, Rosalba Monica Ferraro, Giulia Savio, Giovanna Piovani, Gaetana Lanzi, and Silvia Giliani

Subjects
0301 basic medicine, Adult, Cri-du-Chat Syndrome, Male, Microcephaly, Cri du Chat Syndrome, Induced Pluripotent Stem Cells, Biology, Peripheral blood mononuclear cell, 03 medical and health sciences, 0302 clinical medicine, medicine, Humans, Cellular Reprogramming Techniques, Induced pluripotent stem cell, lcsh:QH301-705.5, Repetitive movements, Chromosome, General Medicine, Cell Biology, medicine.disease, 030104 developmental biology, lcsh:Biology (General), Leukocytes, Mononuclear, Autism, Developmental Biology, Neuroscience, 030217 neurology & neurosurgery
Abstract

The Cri du Chat Syndrome (CdCS) is a genetic disease resulting from variable size deletion occurring on the short arm of chromosome 5. The main clinical features are a high-pitched monochromatic cry, microcephaly, severe psychomotor and mental retardation with characteristics of autism spectrum disorders such as hand flapping, obsessive attachments to objects, twirling objects, repetitive movements, and rocking. We reprogrammed to pluripotency peripheral blood mononuclear cells derived from a patient carrying large deletion on the short arm of chromosome 5, using a commercially available non-integrating expression system. The iPSCs expressed pluripotency markers and differentiated in the three embryonic germ layers.

Published
2019

15. Establishment of three iPSC lines from fibroblasts of a patient with Aicardi Goutières syndrome mutated in RNaseH2B

Author

Chiara Barisani, Gaetana Lanzi, Cristina Cereda, Elisa Fazzi, Giovanna Piovani, Jessica Galli, Silvia Giliani, Rosalba Monica Ferraro, Marco Muzi-Falconi, Marco Cattalini, Giulia Savio, Simona Orcesi, and Stefania Masneri

Subjects
0301 basic medicine, Induced Pluripotent Stem Cells, Ribonuclease H, Cell Culture Techniques, Biology, Nervous System Malformations, medicine.disease_cause, Cell Line, Kruppel-Like Factor 4, 03 medical and health sciences, Autoimmune Diseases of the Nervous System, 0302 clinical medicine, SOX2, medicine, Humans, Child, lcsh:QH301-705.5, Transcription factor, Mutation, Base Sequence, Reproducibility of Results, Karyotype, Cell Biology, General Medicine, Fibroblasts, medicine.disease, biology.organism_classification, Molecular biology, In vitro, Sendai virus, 030104 developmental biology, lcsh:Biology (General), KLF4, embryonic structures, Aicardi–Goutières syndrome, Female, 030217 neurology & neurosurgery, Developmental Biology
Abstract

We report the generation of three isogenic iPSC clones (UNIBSi007-A, UNIBSi007-B, and UNIBSi007-C) obtained from fibroblasts of a patient with Aicardi Goutieres Syndrome (AGS) carrying a homozygous mutation in RNaseH2B. Cells were transduced using a Sendai virus based system, delivering the human OCT4, SOX2, c-MYC and KLF4 transcription factors. The resulting transgene-free iPSC lines retained the disease-causing DNA mutation, showed normal karyotype, expressed pluripotent markers and could differentiate in vitro toward cells of the three embryonic germ layers.

Published
2019

16. Generation of three iPSC lines from fibroblasts of a patient with Aicardi Goutières Syndrome mutated in TREX1

Author

Giulia Savio, Chiara Barisani, Rosalba Monica Ferraro, Stefania Masneri, Marco Cattalini, Simona Orcesi, Giovanna Piovani, Silvia Giliani, Cristina Cereda, Gaetana Lanzi, Elisa Fazzi, Marco Muzi-Falconi, and Jessica Galli

Subjects
Male, 0301 basic medicine, Cellular differentiation, Induced Pluripotent Stem Cells, Biology, Nervous System Malformations, medicine.disease_cause, Viral vector, Kruppel-Like Factor 4, 03 medical and health sciences, Autoimmune Diseases of the Nervous System, 0302 clinical medicine, SOX2, medicine, Humans, Induced pluripotent stem cell, lcsh:QH301-705.5, Cells, Cultured, Mutation, Cell Differentiation, Cell Biology, General Medicine, Fibroblasts, Phosphoproteins, medicine.disease, Molecular biology, In vitro, Exodeoxyribonucleases, 030104 developmental biology, lcsh:Biology (General), KLF4, Child, Preschool, embryonic structures, Aicardi–Goutières syndrome, 030217 neurology & neurosurgery, Developmental Biology
Abstract

Fibroblasts from a patient with Aicardi Goutières Syndrome (AGS) carrying a compound heterozygous mutation in TREX1, were reprogrammed into induced pluripotent stem cells (iPSCs) to establish isogenic clonal stem cell lines: UNIBSi006-A, UNIBSi006-B, and UNIBSi006-C. Cells were transduced using the episomal Sendai viral vectors, containing human OCT4, SOX2, c-MYC and KLF4 transcription factors. The transgene-free iPSC lines showed normal karyotype, expressed pluripotent markers and displayed in vitro differentiation potential toward cells of the three embryonic germ layers.

Published
2019

17. Shape Memory Electrospun Nonwovens Based on Crosslinked Poly(epsilon-Caprolactone) for Multifunctional Biological Applications

Author

Mariagrazia Marziano, Andrea Merlettini, Sarah Tonello, Paola Ginestra, Nicoletta Inverardi, Chiara Gualandi, and Rosalba Monica Ferraro

Subjects
Scaffold, Materials science, Nanotechnology, shape memory polymers, Shape-memory alloy, scaffold, electrospinning, neural stem cells, sensor, Electrospinning, Physics and Astronomy (all), chemistry.chemical_compound, Shape-memory polymer, chemistry, Thermal stability, Fiber, Science, technology and society, Caprolactone
Abstract

In this work we have explored the capabilities of an electrospun mat, realized in crosslinked poly(e-caprolactone), to be employed as a scaffold for specific biological applications. Its shape memory behavior was here exploited to easily control fiber orientation and to guide cellular alignment. Randomly oriented mats were transformed in a stable shape with various degrees of fiber alignment by simply varying the maximum strain applied throughout proper thermo-mechanical cycles. The effect of fiber alignment was investigated both on mechanical properties and on cell culture, through biological characterization done by using Neural Stem Cells derived from human iPSCs (induced Pluripotent Stem Cells). Further, thanks to the thermal stability of the microfibrous structure, it was possible to transfer, through inkjet printing on the electrospun, a biocompatible sensing element, which successfully allowed to monitor cell adhesion (L6 Myoblast) in an innovative way under dynamic conditions.

Published
2018

18. Proceedings of the 23rd Paediatric Rheumatology European Society Congress: part one

Author

F. De Benedetti, J. Anton, M. Gattorno, H. Lachmann, I. Kone-Paut, S. Ozen, J. Frenkel, A. Simon, A. Zeft, E. Ben-Chetrit, H. M. Hoffman, Y. Joubert, K. Lheritier, A. Speziale, J. Guido, Roberta Caorsi, Federica Penco, Alice Grossi, Antonella Insalaco, Maria Alessio, Giovanni Conti, Federico Marchetti, Alberto Tommasini, Silvana Martino, Romina Gallizzi, Annalisa Salis, Francesca Schena, Francesco Caroli, Alberto Martini, Gianluca Damonte, Isabella Ceccherini, Marco Gattorno, Marie-Louise Frémond, Carolina Uggenti, Lien Van Eyck, Isabelle Melki, Darragh Duffy, Vincent Bondet, Yoann Rose, Bénédicte Neven, Yanick Crow, Mathieu P. Rodero, Yvonne Kusche, Johannes Roth, Katarzyna Barczyk-Kahlert, Giovanna Ferrara, Annalisa Chiocchetti, Silvio Polizzi, Josef Vuch, Diego Vozzi, Anna Mondino, Erica Valencic, Serena Pastore, Andrea Taddio, Flavio Faletra, Umberto Dianzani, Ugo Ramenghi, Qing Zhou, Xiaomin Yu, Erkan Demirkaya, Natalie Deuitch, Deborah Stone, Wanxia Tsai, Amanda Ombrello, Tina Romeo, Elaine F. Remmers, JaeJin Chae, Massimo Gadina, Steven Welch, Seza Ozen, Rezan Topaloglu, Mario Abinun, Daniel L. Kastner, Ivona Aksentijevich, Donatella Vairo, Rosalba Monica Ferraro, Giulia Zani, Jessica Galli, Micaela De Simone, Marco Cattalini, Elisa Fazzi, Silvia Giliani, Ebun Omoyinmi, Ariane Standing, Dorota Rowczenio, Annette Keylock, Sonia Melo Gomes, Fiona Price-Kuehne, Sira Nanthapisal, Claire Murphy, Thomas Cullup, Lucy Jenkins, Kimberly Gilmour, Despina Eleftheriou, Helen Lachmann, Philip Hawkins, Nigel Klein, Paul Brogan, Anita Dhanrajani, Mercedes Chan, Stephanie Pau, Janet Ellsworth, Jaime Guzman, Florence A. Aeschlimann, Marinka Twilt, Simon W. Eng, Shehla Sheikh, Ronald M. Laxer, Diane Hebert, Damien Noone, Christian Pagnoux, Susanne M. Benseler, Rae S. Yeung, Christoph Kessel, Katrin Lippitz, Toni Weinhage, Claas Hinze, Helmut Wittkowski, Dirk Holzinger, Niklas Grün, Dirk Föll, Pieter Van Dijkhuizen, Federica Del Chierico, Clara Malattia, Alessandra Russo, Denise Pires Marafon, Nienke M. ter Haar, Silvia Magni-Manzoni, Sebastiaan J. Vastert, Bruno Dallapiccola, Berent Prakken, Fabrizio De Benedetti, Lorenza Putignani, Berna Eren Fidanci, Kenan Barut, Serap Arıcı, Dogan Simsek, Mustafa Cakan, Ezgi D. Batu, Sezgin Şahin, Ayşenur Kısaarslan, Ebru Yilmaz, Özge Basaran, Ferhat Demir, Kubra Ozturk, Zübeyde Gunduz, Betül Sozeri, Balahan Makay, Nuray Ayaz, Onder Yavascan, Ozlem Aydog, Yelda Bilginer, Zelal Ekinci, Dilek Yıldız, Faysal Gök, Muferret Erguven, Erbil Unsal, Ozgur Kasapcopur, For the FMF Arthritis Vasculitis and Orphan Disease Research in Paediatric Rheumatology (FAVOR), Hafize E. Sönmez, Betül Sözeri, Yonatan Butbul, Seza Özen, Claudia Bracaglia, Giusi Prencipe, Manuela Pardeo, Geneviève Lapeyre, Emiliano Marasco, Walter Ferlin, Robert Nelson, Cristina de Min, N. Ruperto, H. I. Brunner, P. Quartier, T. Constantin, E. Alexeeva, K. Marzan, N. Wulffraat, R. Schneider, S. Padeh, V. Chasnyk, C. Wouters, J. B. Kuemmerle-Deschner, T. Kallinich, B. Lauwerys, E. Haddad, E. Nasonov, M. Trachana, O. Vougiouka, K. Leon, E. Vritzali, A. Martini, D. Lovell, PRINTO/PRCSG, Stefano Volpi, Claudia Pastorino, Francesca Kalli, Alessia Omenetti, Sabrina Chiesa, Arinna Bertoni, Paolo Picco, Gilberto Filaci, Elisabetta Traggiai, Marie-Louise Fremond, Naoki Kitabayashi, Olivero Sacco, Isabelle Meyts, Marie-Anne Morren, Carine Wouters, Eric Legius, Isabelle Callebaut, Christine Bodemer, Frederic Rieux-Laucat, Mathieu Rodero, Nadia Jeremiah, Alexandre Belot, Eric Jeziorski, Didier Bessis, Guilhem Cros, Gillian I. Rice, Bruno Charbit, Anne Hulin, Nihel Khoudour, Consuelo Modesto Caballero, Monique Fabre, Laureline Berteloot, Muriel Le Bourgeois, Philippe Reix, Thierry Walzer, Despina Moshous, Stéphane Blanche, Alain Fischer, Brigitte Bader-Meunier, Frédéric Rieux-Laucat, K. Annink, N. ter Haar, S. Al-Mayouf, G. Amaryan, K. Barron, S. Benseler, P. Brogan, L. Cantarini, M. Cattalini, A. Cochino, F. Dedeoglu, A. De Jesus, O. Dellacasa, E. Demirkaya, P. Dolezalova, K. Durrant, G. Fabio, R. Gallizzi, R. Goldbach-Mansky, E. Hachulla, V. Hentgen, T. Herlin, M. Hofer, H. Hoffman, A. Insalaco, A. Jansson, I. Koné-Paut, A. Kozlova, J. Kuemmerle-Deschner, R. Laxer, S. Nielsen, I. Nikishina, A. Ombrello, E. Papadopoulou-Alataki, A. Ravelli, D. Rigante, R. Russo, Y. Uziel, Nienke ter Haar, Jerold Jeyaratnam, Anna Simon, Matteo Doglio, Jordi Anton, Consuelo Modesto, Pierre Quartier, Esther Hoppenreijs, Luca Cantarini, Loredana Lepore, Inmaculada Calvo Penades, Christina Boros, Rita Consolini, Donato Rigante, Ricardo Russo, Jana Pachlopnik Schmid, Thirusha Lane, Nicolino Ruperto, Joost Frenkel, Chiara Passarelli, Elisa Pisaneschi, Virginia Messia, Antonio Novelli, Fabrizio Debenedetti, P. A. Brogan, X. Wei, Martina Finetti, Francesca Orlando, Elisabetta Cortis, Angela Miniaci, Nicola Ruperto, Charlotte Eijkelboom, Pavla Dolezalova, Isabelle Koné-Paut, Marija Jelusic-Drazic, Liliana Bezrodnik, Mari Carmen Pinedo, Valda Stanevicha, Marielle van Gijn, Silvia Federici, Hermann Girschick, Gerd Ganser, Susan Nielsen, Troels Herlin, Sulaiman Mohammed Al-Mayouf, Michael Hofer, Jasmin Kuemmerle-Deschner, Susanne Schalm, Annette Jansson, on behalf of PRINTO and Eurofever registry, Marta Marchi, Chiara Marini, Angelo Ravelli, Alberto Garaventa, Sonia Carta, Enrica Balza, Patrizia Castellani, Caterina Pellecchia, Silvia Borghini, Maria Libera Trotta, Anna Rubartelli, Andrew Henrey, Thomas Loughin, Roberta Berard, Natalie Shiff, Roman Jurencak, Susanne Benseler, Lori Tucker, on behalf of ReACCh-Out Investigators, Charalampia Papadopoulou, Ying Hong, Petra Krol, Yiannis Ioannou, Clarissa Pilkington, Hema Chaplin, Stephania Simou, Marietta Charakida, Lucy Wedderburn, Lynn R. Spiegel, Sara Ahola Kohut, Jennifer Stinson, Paula Forgeron, Miriam Kaufman, Nadia Luca, Khush Amaria, Mary Bell, J Swart, F. Boris, E. Castagnola, A. Groll, G. Giancane, G. Horneff, H. I. Huppertz, T. Wolfs, E. Alekseeva, V. Panaviene, F. Uettwiller, V. Stanevicha, L. M. Ailioaie, E. Tsitami, S. Kamphuis, G. Susic, F. Sztajnbok, B. Flato, A. Pistorio, Stephanie J. W. Shoop, Suzanne M. M. Verstappen, Janet E. McDonagh, Wendy Thomson, Kimme L. Hyrich, CAPS, Maarit Tarkiainen, Pirjo Tynjala, Pekka Lahdenne, Janne Martikainen, Acute-JIA Study Group, Meredyth Wilkinson, Christopher Piper, Georg Otto, Claire T. Deakin, Stefanie Dowle, Stefania Simou, Daniel Kelberman, Claudia Mauri, Elizabeth Jury, David Isenberg, Lucy R. Wedderburn, Kiran Nistala, I. Foeldvari, D. J. Lovell, G. Simonini, M. Bereswill, J. Kalabic, Kiem Oen, Brian M. Feldman, Brenden Dufault, Jennifer Lee, Karen Watanabe Duffy, Ciaran Duffy, ReACCh-Out Investigators, N. Tzaribachev, G. Vega-Cornejo, I. Louw, A. Berman, I. Calvo, R. Cuttica, F. Avila-Zapata, R. Cimaz, E. Solau-Gervais, R. Joos, G. Espada, X. Li, M. Nys, R. Wong, S. Banerjee, For Pediatric Rheumatology International Trials Organization (PRINTO)/Pediatric Rheumatology Collaborative Study Group (PRCSG), Rebecca Nicolai, Margherita Verardo, Adele D’Amico, Luisa Bracci-Laudiero, Gian Marco Moneta, Gillian Rice, Anne-Laure Mathieu, Sulliman O. Omarjee, Tracy A. Briggs, James O’Sullivan, Simon Williams, Rolando Cimaz, Eve Smith, Michael W. Beresford, Yanick J. Crow, GENIAL Investigators, UK JSLE Study Group, Madeleine Rooney, Nick Bishop, joyce davidson, Clarissa pilkington, Michael Beresford, Jacqui Clinch, Rangaraj Satyapal, Helen Foster, Janet Gardner Medwin, Janet McDonagh, Sue Wyatt, On Behalf of the British Society for Paediatric and Adolescent Rheumatology, Valentina Litta Modignani, Francesco Baldo, Stefano Lanni, Alessandro Consolaro, Giovanni Filocamo, Helen J. Lachmann, on behalf of Eurofever Registry, Gianmarco Moneta, Camilla Celani, Bilade Cherqaoui, Linda Rossi-Semerano, Perrine Dusser, Véronique Hentgen, Claire Grimwood, Linda Rossi, Isabelle Kone Paut, Veronique Hentgen, Denise Lasigliè, Denise Ferrera, Giulia Amico, Marco Di Duca, Laura Obici, Roberto Ravazzolo, Ryuta Nishikomori, Juan Arostegui, Andrea Petretto, Chiara Lavarello, Elvira Inglese, Federica Vanoni, Michaël Hofer, on behalf of EUROFEVER PROJECT, P. N. Hawkins, T. van der Poll, U. A. Walker, H. H. Tilson, Pascal N. Tyrrell, Raphaela Goldbach-Mansky, Norbert Blank, Hal M. Hoffman, Elisabeth Weissbarth-Riedel, Boris Huegle, Tilmann Kallinich, Ahmet Gul, Marlen Oswald, Fatma Dedeoglu, Aki Hanaya, Takako Miyamae, Manabu Kawamoto, Yumi Tani, Takuma Hara, Yasushi Kawaguchi, Satoru Nagata, Hisashi Yamanaka, Almira Ćosićkić, Fahrija Skokić, Belkisa Čolić, Sanimir Suljendić, Anna Kozlova, Irina Mersiyanova, Mariya Panina, Lily Hachtryan, Vasiliy Burlakov, Elena Raikina, Alexey Maschan, Anna Shcherbina, Banu Acar, Meryem Albayrak, Betul Sozeri, Sezgin Sahin, Amra Adrovic, Nese Inan, Serhan Sevgi, Caroline M. Andreasen, Anne Grethe Jurik, Mia B. Glerup, Christian Høst, Birgitte T. Mahler, Ellen-Margrethe Hauge, Cecilia Lazea, Laura Damian, Calin Lazar, Rodica Manasia, Chloe M. Stephenson, Vimal Prajapati, Paivi M. Miettunen, Dilek Yılmaz, Yavuz Tokgöz, Yasin Bulut, Harun Çakmak, Ferah Sönmez, Elif Comak, Gülşah Kaya Aksoy, Mustafa Koyun, Sema Akman, Yunus Arıkan, Ender Terzioğlu, Osman Nidai Özdeş, İbrahim Keser, Hüseyin Koçak, Ayşen Bingöl, Aygen Yılmaz, Reha Artan, X. Xu, Fatemeh F. Mehregan, Vahid Ziaee, Mohammad H. Moradinejad, Francesco La Torre, Clotilde Alizzi, Pio D’Adamo, G. Junge, J. Gregson, Hasmik Sargsyan, Hulya Zengin, Berna E. Fidanci, Cagla Kaymakamgil, Dilek Konukbay, Dilek Yildiz, Faysal Gok, Iris Stoler, Judith Freytag, Banu Orak, Christine Seib, Lars Esmann, Eva Seipelt, Faekah Gohar, Dirk Foell, Ismail Dursun, Sebahat Tulpar, Sibel Yel, Demet Kartal, Murat Borlu, Funda Bastug, Hakan Poyrazoglu, Zubeyde Gunduz, Kader Kose, Mehmet E. Yuksel, Abdullah Calıskan, Ahmet B. Cekgeloglu, Ruhan Dusunsel, Katerina Bouchalova, Jana Franova, Marcel Schuller, Marie Macku, Katerina Theodoropoulou, Raffaella Carlomagno, Annette von Scheven-Gête, Claudia Poloni, Laura O. Damian, Dan Cosma, Amanda Radulescu, Dan Vasilescu, Liliana Rogojan, Simona Rednic, Mihaela Lupse, Lien De Somer, Pierre Moens, Rocio Galindo Zavala, Laura Martín Pedraz, Esmeralda Núñez Cuadros, Gisela Díaz-Cordovés Rego, Antonio L. Urda Cardona, Ilaria Dal Forno, Sara Pieropan, Ombretta Viapiana, Davide Gatti, Gloria Dallagiacoma, Paola Caramaschi, Domenico Biasi, Daniel Windschall, Ralf Trauzeddel, Hartwig Lehmann, Rainer Berendes, Maria Haller, Manuela Krumrey-Langkammerer, Antje Nimtz-Talaska, Philipp Schoof, Ralf Felix Trauzeddel, Christine Nirschl, Estefania Quesada-Masachs, Carla Aguilar Blancafort, Sara Marsal Barril, Francisca Aguiar, Rita Fonseca, Duarte Alves, Ana Vieira, Alberto Vieira, Jorge A. Dias, Iva Brito, Gordana Susic, Vera Milic, Goran Radunovic, Ivan Boricic, Pauline Marteau, Catherine Adamsbaum, Michel De Bandt, Irène Lemelle, Chantal Deslandre, Tu Anh Tran, Anne Lohse, Elisabeth Solau-Gervais, Pascal Pillet, Julien Wipff, Cécile Gaujoux-Viala, Sylvain Breton, Valérie Devauchelle-Pensec, Sandra Gran, Olesja Fehler, Stefanie Zenker, Michael Schäfers, Thomas Vogl, Severine Guillaume Czitrom, EH Pieter Van Dijkhuizen, Silvia Magni Manzoni, Francesca Magnaguagno, Laura Tanturri de Horatio, Nienke M. Ter Haar, Annemieke S. Littooij, Vitor A. Teixeira, Raquel Campanilho-Marques, Ana F. Mourão, Filipa O. Ramos, Manuela Costa, Wafa A. Madan, Orla G. Killeen, Adriana Rodriguez Vidal, Diana Sueiro Delgado, Maria Isabel Gonzalez Fernandez, Berta Lopez Montesinos, Aleksey Kozhevnikov, Nina Pozdeeva, Mikhail Konev, Evgeniy Melchenko, Vladimir Kenis, Gennadiy Novik, Aysenur Pac Kısaarslan, Butsabong Lerkvaleekul, Suphaneewan Jaovisidha, Witaya Sungkarat, Niyata Chitrapazt, Praman Fuangfa, Thumanoon Ruangchaijatuporn, Soamarat Vilaiyuk, Dan Ø. Pradsgaard, Arne Hørlyck, Anne H. Spannow, Carsten W. Heuck, Talia Diaz, Fernando Garcia, Lorenia De La Cruz, Nadina Rubio, Joanna Świdrowska-Jaros, Elzbieta Smolewska, Mirta Lamot, Lovro Lamot, Mandica Vidovic, Edi Paleka Bosak, Ivana Rados, Miroslav Harjacek, Nikolay Tzaribachev, Polymnia Louka, Romiesa Hagoug, Chiara Trentin, Olga Kubassova, Mark Hinton, Mikael Boesen, Olena A. Oshlianska, Illya A. Chaikovsky, G. Mjasnikov, A. Kazmirchyk, Umberto Garagiola, Irene Borzani, Paolo Cressoni, Fabrizia Corona, Eszter Dzsida, Giampietro Farronato, Antonella Petaccia, Alenka Gagro, Agneza Marija Pasini, Goran Roic, Ozren Vrdoljak, Lucija Lujic, Matija Zutelija-Fattorini, Monika M. Esser, Deepthi R. Abraham, Craig Kinnear, Glenda Durrheim, Mike Urban, Eileen Hoal, Victoria B. Nikolayenko, Kubilay Şahin, Yasar Karaaslan, Adele Civino, Giovanni Alighieri, Sergio Davì, Roberto Rondelli, Andrea Magnolato, Francesca Ricci, Alma Olivieri, Valeria Gerloni, Bianca Lattanzi, Francesca Soscia, Alessandro De Fanti, Stefania Citiso, Lorenzo Quartulli, Maria Cristina Maggio, Manuela Marsili, Maria Antonietta Pelagatti, Valentino Conter, Franca Fagioli, Andrea Pession, Marco Garrone, Mariangela Rinaldi, Jaime De Inocencio, Stella Garay, Daniel J. Lovell, Berit Flato, EPOCA Study Group, Angela Aquilani, Simona Cascioli, Ivan Caiello, Denise Pires-Marafón, Rita Carsetti, Emily Robinson, Salvatore Albani, Wilco de Jager, Sytze de Roock, Trang Duong, Justine Ellis, Kimme Hyrich, Laetitia Jervis, Daniel Lovell, Lucy Marshall, Elizabeth D. Mellins, Kirsten Minden, Jane Munro, Peter A. Nigrovic, Jason Palman, Sunil Sampath, Laura E. Schanberg, Susan D. Thompson, Richard Vesely, Chris Wallace, Chris Williams, Qiong Wu, Nico Wulffraat, Rae S. M. Yeung, M. B. Seyger, D. Arikan, J. K. Anderson, A. Lazar, D. A. Williams, C. Wang, R. Tarzynski-Potempa, J. S. Hymans, Gabriele Simonini, Erika Scoccimarro, Irene Pontikaki, Teresa Giani, Alessandro Ventura, Pier Luigi Meroni, Gaetana Minnone, Marzia Soligo, Luigi Manni, Luisa Bracci Laudiero, Noortje Groot, I. Grein, N. M. Wulffraat, R. Schepp, G. Berbers, C. C. Barbosa Sandoval de Souza, V. Paes Leme Ferriani, G. Pileggi, S. de Roock, Ingrid H. R. Grein, Silvia Scala, Elisa Patrone, Casper Schoemaker, on behalf of Dutch JIA patient organization, Wendy Costello, on behalf of ENCA, Suzanne Parsons, Jean-David Cohen, Damien Bentayou, Marc-Antoine Bernard Brunel, Sonia Trope, Jens Klotsche, Miriam Listing, Martina Niewerth, Gerd Horneff, Angelika Thon, Hans-Iko Huppertz, Kirsten Mönkemöller, Ivan Foeldvari, ICON study group, Achille Marino, Stefano Stagi, Niccolò Carli, Federico Bertini, Adriana S. Díaz-Maldonado, Sally Pino, Pilar Guarnizo, Alfonso Ragnar Torres-Jimenez, Berenice Sanchez-Jara, Eunice Solis-Vallejo, Adriana Ivonne Cespedes-Cruz, Maritza Zeferino-Cruz, Julia Veronica Ramirez-Miramontes, Ankur Kumar, Anju Gupta, Deepti Suri, Amit Rawat, Nandita Kakkar, Surjit Singh, Özge A. Gücenmez, Erbil Ünsal, Bo Magnusson, Karina Mördrup, Anna Vermé, Christina Peterson, Board of the Swedish Pediatric Rheumatology Registry, Caroline Freychet, Jean Louis Stephan, Cathryn E. Harkness, Leanne Foster, Emma Henry, Pauline Taggart, Coskun F. Ozkececi, Esra Kurt, Gokalp Basbozkurt, Daiva Gorczyca, Jacek Postępski, Aleksandra Czajkowska, Bogumiła Szponar, Mariola Paściak, Anna Gruenpeter, Iwona Lachór-Motyka, Daria Augustyniak, Edyta Olesińska, Emediong S. Asuka, Tatyana Golovko, Samuel U. Aliejim, Emilio Inarejos Clemente, Estibaliz Iglesias Jimenez, Joan Calzada Hernandez, Sergi Borlan Fernandez, Clara Gimenez Roca, David Moreno Romo, Natalia Rodriguez Nieva, Juan Manuel Mosquera Angarita, Jordi Anton Lopez, Esmeralda Nuñez-Cuadros, Gisela Diaz-Cordovés, Rocío Galindo-Zavala, Antonio Urda-Cardona, Antonio Fernández-Nebro, Daniel Álvarez de la Sierra, Marina Garcia Prat, Mónica Martínez Gallo, Ricardo Pujol Borrell, Ana M. Marín Sánchez, Etienne Merlin, Sylvie Fraitag, Jean-Louis Stephan, Federico Annoni, Giancarla Di Landro, Sofia Torreggiani, Marta Torcoletti, Georgina Tiller, Jo Buckle, Angela Cox, Peter Gowdie, Roger C. Allen, Jonathan D. Akikusa, Hayde G. Hernández-Huirache, Edel R. Rodea-Montero, William Fahy, Christelle Sordet, Karin B. Berggren, Johanna T. Kembe, Joyce Bos, Wineke Armbrust, Marco van Brussel, Jeanette Cappon, Pieter Dijkstra, Jan Geertzen, Elizabeth Legger, Marion van Rossum, Pieter Sauer, Otto Lelieveld, Levent Buluc, Gur Akansel, Bahar Muezzinoglu, Ljubov Rychkova, Tatyana Knyazeva, Anna Pogodina, Tatyana Belova, Tamara Mandzyak, Ekaterina Kulesh, Alessandro Cafarotti, Cosimo Giannini, Roberta Salvatore, Giuseppe Lapergola, Caterina Di Battista, Maria Loredana Marcovecchio, Raffaella Basilico, Piernicola Pelliccia, Francesco Chiarelli, Luciana Breda, Beverley Almeida, Sarah Tansley, Harsha Gunawardena, Neil McHugh, Juvenile Dermatomyositis Research Group (JDRG), Jessie Aouizerate, Marie De Antonio, Christine Barnerias, Guillaume Bassez, Isabelle Desguerre, Romain Gherardi, Jean-Luc Charuel, François-Jérôme Authier, Cyril Gitiaux, C. H. Spencer, Rabheh Abdul Aziz, Chack-Yung Yu, Brent Adler, Sharon Bout-Tabaku, Katherine Lintner, Melissa Moore-Clingenpeel, Liza McCann, Nicola Ambrose, Mario Cortina-Borja, Juvenile Dermatomyositis Cohort and Biomarker Study (JCDBS), Prasad T. Oommen, Fabian Speth, Johannes-Peter Haas, Working Group 'Juvenile Dermatomyositis' of the German Society for Paediatric and Adolescent Rheumatology (GKJR), Claudio Lavarello, Gabriella Giancane, Angela Pistorio, Lisa Rider, Rohit Aggarwal, Sheila K. Oliveira, Ruben Cuttica, Michel Fischbach, Gary Sterba, Karine Brochard, Frank Dressler, Patrizia Barone, Ruben Burgos-Vargas, Elizabeth Candell Chalom, Marine Desjonqueres, Graciela Espada, Anders Fasth, Stella Maris Garay, Rose-Marie Herbigneaux, Claire Hoyoux, Chantal Job Deslandre, Frederick W. Miller, Jiri Vencovsky, Erdal Sag, Gulsev Kale, Haluk Topaloglu, Beril Talim, Francesco Zulian, Tadej Avcin, Roberto Marini, Anne Pagnier, Michel Rodiere, Christine Soler, Rebecca Ten Cate, Yosef Uziel, Jelena Vojinovic, Ana V. Villarreal, Nydia Acevedo, Yuridiana Ramirez, Enrique Faugier, Rocio Maldonado, Bita Arabshahi, John H. Lee, Ian Leibowitz, Lawrence O. Okong’o, Jo Wilmshurst, Monika Esser, Christiaan Scott, Ezgi Deniz Batu, Nagehan Emiroglu, Hafize Emine Sonmez, Gokcen Dilsa Tugcu, Zehra Serap Arici, Ebru Yalcin, Deniz Dogru, Ugur Ozcelik, Mithat Haliloglu, Nural Kiper, Masato Yashiro, Mutsuko Yamada, Toshihiko Yabuuchi, Tomonobu Kikkawa, Nobuyuki Nosaka, Yosuke Fujii, Yukie Saito, Hirokazu Tsukahara, Sulaiman M. Al-Mayouf, Nora AlMutiari, Mohammed Muzaffer, Rawiah shehata, Adel Al-Wahadneh, Reem Abdwani, Safia Al-Abrawi, Mohammed Abu-shukair, Zeyad El-Habahbeh, Abdullah Alsonbul, Aleksandra Szabat, Monika Chęć, Violetta Opoka-Winiarska, Biman Saikia, Ranjana W. Minz, Christine Arango, Clara Malagon, Maria D. P. Gomez, Angela C. Mosquera, Ricardo Yepez, Tatiana Gonzalez, Camilo Vargas, GRIP study group, Marta Balzarin, Biagio Castaldi, Elena Reffo, Francesca Sperotto, Giorgia Martini, Alessandra Meneghel, Ornella Milanesi, Ozgur Kasapçopur, Maria Teresa Terreri, Ekaterina Alexeeva, Maria Katsicas, Mikhail Kostik, Thomas Lehman, W.-Alberto Sifuentes-Giraldo, Vanessa Smith, Flavio Sztajnbok, Tadey Avcin, Maria Jose Santos, Dana Nemcova, Cristina Battagliotti, Liora Harel, Mahesh Janarthanan, Kathryn Torok, Nicola Helmus, Eileen Baildem, Michael Blakley, Kim Fligelstone, Antonia Kienast, Clare Pain, Amanda Saracino, Gabriele Simoni, Lisa Weibel, Maria K. Osminina, Nathalia A. Geppe, Olga V. Niconorova, Olesya V. Karashtina, Oksana V. Abbyasova, Olga V. Shpitonkova, Sinem Durmus, Hafize Uzun, Angela Mauro, Eleonora Fanti, Fabio Voller, Franca Rusconi, Fernando Garcia-Rodriguez, Ana V. Villarreal-Treviño, Angel J. Flores-Pineda, Paola B. Lara-Herrea, Diego R. Salinas-Encinas, Talia Diaz-Prieto, Maria R. Maldonado-Velazquez, Sarbelio Moreno-Espinosa, Enrique Faugier-Fuentes, Mirella Crapanzano, Ilaria Parissenti, Man S. Parihar, Pandiarajan Vignesh, ManojKumar Rohit, Kavitha Gopalan, Savita V. Attri, Alan Salama, David Jayne, Mark Little, Yulia Kostina, Galina Lyskina, Olga Shpitonkova, Alena Torbyak, Olga Shirinsky, Maria Francesca Gicchino, Maria Cristina Smaldone, Mario Diplomatico, Alma Nunzia Olivieri, C H. Spencer, Richard McClead, Hiren Patel, Chung-Yung Yu, Dita Cebecauerová, Tomáš Dallos, Edita Kabíčková, Martin Kynčl, Daniela Chroustová, Jozef Hoza, Dana Němcová, Vladimír Tesař, Pavla Doležalová, Tuncay Hazirolan, Fatih Ozaltin, Fabiola Almeida, Isabela H. Faria de Paula, Maíra M. Sampaio, Fernando N. Arita, Andressa G. Alves, Maria Carolina Santos, Eunice M. Okuda, Silvana B. Sacchetti, Fernanda Falcini, Marini Francesca, Gemma Lepri, Marco Matucci-Cerinic, Maria Luisa Brandi, Hakan Kisaoglu, Sema Misir, Selim Demir, Yuksel Aliyazicioglu, Mukaddes Kalyoncu, Carlos Eduardo Ramalho, Fabiola D. Almeida, Joan Calzada-Hernández, Rosa Bou, Estíbaliz Iglesias, Judith Sánchez-Manubens, Fredy Hermógenes Prada Martínez, Clara Giménez Roca, Sergi Borlan Fernández, Marek Bohm, Kamran Mahmood, Valentina Leone, Mark Wood, Ken-Ichi Yamaguchi, Satoshi Fujikawa, Working Group of Behçet’s Disease, Pediatric Rheumatology Association of Japan (PRAJ), Kyu Yeun Kim, Do Young Kim, Dong Soo Kim, Maka Ioseliani, Ivane Chkhaidze, Maia Lekishvili, Nana Tskhakaia, Shorena Tvalabeishvili, Aleksandre Kajrishvili, Maiko Takakura, Masaki Shimizu, Natsumi Inoue, Mao Mizuta, Akihiro Yachie, Giovanni Corsello, Maryam Piram, Carla Maldini, Sandra Biscardi, Nathalie Desuremain, Catherine Orzechowski, Emilie Georget, Delphine Regnard, Isabelle Kone-Paut, Alfred Mahr, Mihaela Sparchez, Zeno Sparchez, Nydia Acevedo Silva, Ana V. Villarreal Treviño, Yuridiana Ramirez Loyola, Talia Diaz Prieto, Enrique Faugier Fuentes, Maria D. R. Maldonado Velazquez, Pilar Perez, Sagar Bhattad, Ranjana Minz, Jitendra Shandilya, Pediatric Allergy and Immunology Unit, PGIMER, Chandigarh, Ana Villarreal, Yuridiana Ramírez, Zeynep Birsin Özçakar, Suat Fitoz, Fatos Yalcinkaya, Annacarin Horne, Francesca Minoia, Francesca Bovis, Sergio Davi, Priyankar Pal, Kimo Stein, Sandra Enciso, Michael Jeng, Despoina Maritsi, Randy C. Cron, Anne Thorwarth, Sae Lim von Stuckrad, Angela Rösen-Wolff, Hella Luksch, Patrick Hundsdoerfer, Peter Krawitz, Nuray Aktay Ayaz, Doğan Simsek, Şebnem Sara Kılıc, Emine Sonmez, Aysenur Pac Kisaarslan, Ozge Altug Gucenmez, Z. Serap Arıcı, Fatih Kelesoglu, Zelal Ekinci Ekinci, Maria Miranda-Garcia, Carolin Pretzer, Michael Frosch, F. Gohar, Angela McArdle, Niamh Callan, Belinda Hernandez, Miha Lavric, Oliver FitzGerald, Stephen R. Pennington, Joachim Peitz, Joern Kekow, Ariane Klein, Anna C. Schulz, Frank Weller-Heinemann, Anton Hospach, J-Peter Haas, BIKER collaborative group, Karen Put, Jessica Vandenhaute, Anneleen Avau, Annemarie van Nieuwenhuijze, Ellen Brisse, Tim Dierckx, Omer Rutgeerts, Josselyn E. Garcia-Perez, Jaan Toelen, Mark Waer, Georges Leclercq, An Goris, Johan Van Weyenbergh, Adrian Liston, Patrick Matthys, Carine H. Wouters, Yasuo Nakagishi, Michael J. Ombrello, Victoria Arthur, Anne Hinks, Patricia Woo, International Childhood Arthritis Genetics (INCHARGE) Consortium, Barbara Stanimirovic, Biljana Djurdjevic-Banjac, Olivera Ljuboja, Boris Hugle, MArgarita Onoufriou, Olga Vougiouka, Kenza Bouayed, Sanae El Hani, Imane Hafid, Nabiha Mikou, Nunu Shelia, Mari Laan, Jaanika Ilisson, and Chris Pruunsild

Subjects
lcsh:Diseases of the musculoskeletal system, lcsh:RJ1-570, lcsh:Pediatrics, lcsh:RC925-935, Meeting Abstracts
Published
2017

19. Generation of 3 clones of induced pluripotent stem cells (iPSCs) from a patient affected by Crohn's disease

Author

Matteo Bramuzzo, Giuliana Decorti, Chiara Barisani, Marco Pelin, Gabriele Stocco, Stefania Masneri, Rosalba Monica Ferraro, Gaetana Lanzi, Elena Genova, Giovanna Piovani, Silvia Giliani, Lanzi, G., Masneri, S., Ferraro, R. M., Genova, E., Piovani, G., Barisani, C., Pelin, M., Stocco, G., Decorti, G., Bramuzzo, M., and Giliani, S.

Subjects
Male, 0301 basic medicine, induced pluripotent stem cell, induced pluripotent stem cells, Crohn's disease, Disease, Inflammatory bowel disease, Peripheral blood mononuclear cell, Cell Line, Young Adult, 03 medical and health sciences, 0302 clinical medicine, Crohn Disease, medicine, Humans, Vector (molecular biology), Induced pluripotent stem cell, Adverse effect, lcsh:QH301-705.5, Cells, Cultured, biology, Cell Differentiation, Cell Biology, General Medicine, medicine.disease, biology.organism_classification, Sendai virus, 030104 developmental biology, lcsh:Biology (General), Immunology, Leukocytes, Mononuclear, Octamer Transcription Factor-3, 030217 neurology & neurosurgery, Developmental Biology
Abstract

Crohn's disease is a debilitating and incurable chronic inflammatory bowel disease, affecting millions of individuals worldwide, with an increasing frequency. Surgery must be applicable in half of the cases often with a disabling course, and pharmacological treatments may have adverse complications. We generated three isogenic clones of iPSCs from peripheral blood mononuclear cells (PBMCs) of a patient with Crohn's Disease under pharmacological treatment without adverse effects. Sendai virus based vector was used and the iPSCs were characterized for genetic uniqueness, genomic integrity, pluripotency, and differentiation ability. These iPSCs will be a powerful tool to develop tailored therapies.

Published
2019

20. Sine causa tetraparesis

Author

Giulio Gualdi, Luisa Lorenzi, Gillian I. Rice, Jessica Galli, Donatella Vairo, Marzia Mortilla, Fabio Facchetti, Marco Cattalini, Francesco Gavazzi, Marika Bianchi, Cristina Cereda, Silvia Giliani, Antonella Meini, Elisa Fazzi, Alessandra Zanola, Micaela De Simone, Raffaele Badolato, Micaela Fredi, Rosalba Monica Ferraro, Nice Carabellese, Laura Andreoli, Marialuisa Valente, Simona Orcesi, Jessica Garau, and Angela Tincani

Subjects
Male, 0301 basic medicine, Pathology, medicine.medical_specialty, Adolescent, Encephalopathy, Pilot Projects, Tetraparesis, Nervous System Malformations, Diagnostic Accuracy Study, Cerebral palsy, Young Adult, 03 medical and health sciences, Autoimmune Diseases of the Nervous System, 0302 clinical medicine, medicine, Humans, Medical history, Preschool, Child, Aicardi-goutières syndrome, Interferon signature, Interferonopathy, Biomarkers, Brain, Child, Preschool, Female, Interferon Type I, Magnetic Resonance Imaging, Paresis, medicine.diagnostic_test, tetraparesis, business.industry, aicardi–goutières syndrome, interferonopathy, Magnetic resonance imaging, General Medicine, medicine.disease, 030104 developmental biology, interferon signature, Etiology, Spastic tetraparesis, Aicardi–Goutières syndrome, business, 030217 neurology & neurosurgery, Research Article
Abstract

Tetraparesis is usually due to cerebral palsy (CP), inborn errors of metabolism, neurogenetic disorders and spinal cord lesions. However, literature data reported that about 10% of children with tetraparesis show a negative/non-specific neuroradiological findings without a specific etiological cause. Aicardi Goutières Syndrome (AGS) is a genetic encephalopathy that may cause tetraparesis. Interferon signature is a reliable biomarker for AGS and could be performed in sine-causa tetraparesis. The aim of the study was to examine the type I interferon signature and AGS related-genes in children with sine causa tetraparesis, to look for misdiagnosed AGS. A secondary aim was to determine which aspects of the patient history, clinical picture and brain imaging best characterize tetraparesis due to an interferonopathy. Seven out of 78 patients affected by tetraparesis, characterized by unremarkable pre-peri-postnatal history and normal/non-specific brain magnetic resonance imaging (MRI) were selected and underwent anamnestic data collection, clinical examination, brain imaging review, peripheral blood interferon signature and AGS-related genes analysis. At our evaluation time (mean age of 11.9 years), all the 7 patients showed spastic-dystonic tetraparesis. At clinical onset brain MRI was normal in 4 and with non-specific abnormalities in 3; at follow-up 3 patients presented with new white-matter lesions, associated with brain calcification in 1 case. Interferon signature was elevated in one subject who presented also a mutation of the IFIH1 gene. AGS should be considered in sine-causa tetraparesis. Core features of interferonopathy-related tetraparesis are: onset during first year of life, psychomotor regression with tetraparesis evolution, brain white-matter lesions with late calcifications. A positive interferon signature may be a helpful marker to select patients with spastic tetraparesis who should undergo genetic analysis for AGS.

Published
2018

22. Impaired natural killer cell functions in patients with signal transducer and activator of transcription 1 (STAT1) gain-of-function mutations

Author

Sara Gasperini, Laura Dotta, Ornella Patrizi, Giovanna Tabellini, Marco A. Cassatella, Claudio Pignata, Silvia Parolini, Giuliana Giardino, Annarosa Soresina, Alessandro Plebani, Raffaele Badolato, Donatella Vairo, Nicola Tamassia, Omar Scomodon, Vassilios Lougaris, Rosalba Monica Ferraro, Tabellini, Giovanna, Vairo, Donatella, Scomodon, Omar, Tamassia, Nicola, Ferraro, Rosalba Monica, Patrizi, Ornella, Gasperini, Sara, Soresina, Annarosa, Giardino, Giuliana, Pignata, Claudio, Lougaris, Vassilio, Plebani, Alessandro, Dotta, Laura, Cassatella, Marco A, Parolini, Silvia, and Badolato, Raffaele

Subjects
0301 basic medicine, Adult, Male, Adolescent, medicine.medical_treatment, candidiasi, Immunology, Natural killer cell, Gene Expression, Candidiasis, Cytotoxic activity, IL-15, Natural killer cells, Signal transducer and activator of transcription 1, Signal transducer and activator of transcription 5, Immunology and Allergy, 03 medical and health sciences, medicine, STAT5 Transcription Factor, Humans, STAT1, Chronic mucocutaneous candidiasis, Phosphorylation, Child, STAT5, cytotoxic activity, biology, Candidiasis, Chronic Mucocutaneous, Degranulation, Middle Aged, medicine.disease, candidiasis, Killer Cells, Natural, signal transducer and activator of transcription 5, 030104 developmental biology, medicine.anatomical_structure, Cytokine, STAT1 Transcription Factor, Interleukin 15, signal transducer and activator of transcription 1, Mutation, STAT protein, Cancer research, biology.protein, Cytokines, Female
Abstract

Background Gain-of-function (GOF) mutations affecting the coiled-coil domain or the DNA-binding domain of signal transducer and activator of transcription 1 (STAT1) cause chronic mucocutaneous candidiasis disease. This condition is characterized by fungal and bacterial infections caused by impaired generation of T H 17 cells; meanwhile, some patients with chronic mucocutaneous candidiasis disease might also have viral or intracellular pathogen infections. Objective We sought to investigate the effect of STAT1 GOF mutations on the functioning of natural killer (NK) cells. Methods Because STAT1 is involved in the signaling response to several cytokines, we studied NK cell functional activities and STAT1 signaling in 8 patients with STAT1 GOF mutations. Results Functional analysis of NK cells shows a significant impairment of cytolytic and degranulation activities in patients with STAT1 GOF mutations. Moreover, NK cells from these patients display lower production of IFN-γ in response to IL-15 and reduced proliferation after stimulation with IL-2 or IL-15, suggesting that STAT5 signaling is affected. In addition, signaling studies demonstrate that the increased phosphorylation of STAT1 in response to IFN-α is associated with detectable activation of STAT1 and increased STAT1 binding to the interferon-induced protein with tetratricopeptide repeats 1 (IFIT1) promoter in response to IL-15, whereas STAT5 phosphorylation and DNA binding to IL-2 receptor α (IL2RA) are reduced or not affected in response to the same cytokine. Conclusion These observations suggest that persistent activation of STAT1 might affect NK cell proliferation and functional activities.

Published
2015

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