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Article ; Online: Gut-associated lymphoid tissue: a microbiota-driven hub of B cell immunity.

Bemark, Mats / Pitcher, Michael J / Dionisi, Chiara / Spencer, Jo

2024 Volume 45, Issue 3, Page(s) 211–223

Abstract: The diverse gut microbiota, which is associated with mucosal health and general wellbeing, maintains gut-associated lymphoid tissues (GALT) in a chronically activated state, including sustainment of germinal centers in a context of high antigenic load. ... ...

Abstract	The diverse gut microbiota, which is associated with mucosal health and general wellbeing, maintains gut-associated lymphoid tissues (GALT) in a chronically activated state, including sustainment of germinal centers in a context of high antigenic load. This influences the rules for B cell engagement with antigen and the potential consequences. Recent data have highlighted differences between GALT and other lymphoid tissues. For example, GALT propagates IgA responses against glycans that show signs of having been generated in germinal centers. Other findings suggest that humans are among those species where GALT supports the diversification, propagation, and possibly selection of systemic B cells. Here, we review novel findings that identify GALT as distinctive, and able to support these processes.
MeSH term(s)	Humans ; B-Lymphocytes ; Lymphoid Tissue ; Germinal Center ; Intestinal Mucosa ; Microbiota ; Immunity, Mucosal
Language	English
Publishing date	2024-02-23
Publishing country	England
Document type	Journal Article ; Review
ZDB-ID	2036831-8
ISSN	1471-4981 ; 1471-4906
ISSN (online)	1471-4981
ISSN	1471-4906
DOI	10.1016/j.it.2024.01.006
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Article: Cerebrospinal Fluid Proteomics in Friedreich Ataxia Reveals Markers of Neurodegeneration and Neuroinflammation.

Imbault, Virginie / Dionisi, Chiara / Naeije, Gilles / Communi, David / Pandolfo, Massimo

Frontiers in neuroscience

2022 Volume 16, Page(s) 885313

Abstract: Clinical trials in rare diseases as Friedreich ataxia (FRDA) offer special challenges, particularly when multiple treatments become ready for clinical testing. Regulatory health authorities have developed specific pathways for "orphan" drugs allowing the ...

Abstract	Clinical trials in rare diseases as Friedreich ataxia (FRDA) offer special challenges, particularly when multiple treatments become ready for clinical testing. Regulatory health authorities have developed specific pathways for "orphan" drugs allowing the use of a validated biomarker for initial approval. This study aimed to identify changes in cerebrospinal fluid (CSF) proteins occurring in FRDA patients that may be potential biomarkers in therapeutic trials. CSF was obtained from 5 FRDA patients (4 females, 1 male) from the Brussels site of the European Friedreich Ataxia Consortium for Translational Studies (EFACTS). Two patients were ambulatory, three used a wheelchair. Residual CSF samples from 19 patients who had had a lumbar puncture as part of a diagnostic workup were used as controls. All CSF samples had normal cells, total protein and glucose levels. Proteins were identified by label-free data-dependent acquisition mass spectrometry (MS) coupled to micro-high performance liquid chromatography. We found 172 differentially expressed proteins (DEPs) (92 up, 80 down) between FRDA patients and controls at
Language	English
Publishing date	2022-07-13
Publishing country	Switzerland
Document type	Journal Article
ZDB-ID	2411902-7
ISSN	1662-453X ; 1662-4548
ISSN (online)	1662-453X
ISSN	1662-4548
DOI	10.3389/fnins.2022.885313
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Article ; Online: Proprioceptors-enriched neuronal cultures from induced pluripotent stem cells from Friedreich ataxia patients show altered transcriptomic and proteomic profiles, abnormal neurite extension, and impaired electrophysiological properties.

Dionisi, Chiara / Chazalon, Marine / Rai, Myriam / Keime, Céline / Imbault, Virginie / Communi, David / Puccio, Hélène / Schiffmann, Serge N / Pandolfo, Massimo

Brain communications

2023 Volume 5, Issue 1, Page(s) fcad007

Abstract: Friedreich ataxia is an autosomal recessive multisystem disorder with prominent neurological manifestations and cardiac involvement. The disease is caused by large GAA expansions in the first intron of ... ...

Abstract	Friedreich ataxia is an autosomal recessive multisystem disorder with prominent neurological manifestations and cardiac involvement. The disease is caused by large GAA expansions in the first intron of the
Language	English
Publishing date	2023-01-18
Publishing country	England
Document type	Journal Article
ISSN	2632-1297
ISSN (online)	2632-1297
DOI	10.1093/braincomms/fcad007
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Article ; Online: Variability of the discrepancy between manufacturer and measured CTDI

Cannillo, B / Ostan, A / Dionisi, C / Fusco, G / Carriero, A / Brambilla, M

Physica medica : PM : an international journal devoted to the applications of physics to medicine and biology : official journal of the Italian Association of Biomedical Physics (AIFB)

2018 Volume 49, Page(s) 34–39

Abstract: According to the EU directive 2013/59, the computed tomography (CT) equipments shall be able to inform the practitioner of parameters for assessing the patient dose. The aim of this study was to measure the accuracy of the ... ...

Abstract	According to the EU directive 2013/59, the computed tomography (CT) equipments shall be able to inform the practitioner of parameters for assessing the patient dose. The aim of this study was to measure the accuracy of the CTDI
MeSH term(s)	Calibration ; Phantoms, Imaging ; Radiation Dosage ; Tomography, X-Ray Computed/instrumentation
Language	English
Publishing date	2018-04-25
Publishing country	Italy
Document type	Journal Article
ZDB-ID	1122650-x
ISSN	1724-191X ; 1120-1797
ISSN (online)	1724-191X
ISSN	1120-1797
DOI	10.1016/j.ejmp.2018.04.390
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Article ; Online: Primary proprioceptive neurons from human induced pluripotent stem cells: a cell model for afferent ataxias.

Dionisi, Chiara / Rai, Myriam / Chazalon, Marine / Schiffmann, Serge N / Pandolfo, Massimo

Scientific reports

2020 Volume 10, Issue 1, Page(s) 7752

Abstract: Human induced pluripotent stem cells (iPSCs) are used to generate models of human diseases that recapitulate the pathogenic process as it occurs in affected cells. Many differentiated cell types can currently be obtained from iPSCs, but no validated ... ...

Abstract	Human induced pluripotent stem cells (iPSCs) are used to generate models of human diseases that recapitulate the pathogenic process as it occurs in affected cells. Many differentiated cell types can currently be obtained from iPSCs, but no validated protocol is yet available to specifically generate primary proprioceptive neurons. Proprioceptors are affected in a number of genetic and acquired diseases, including Friedreich ataxia (FRDA). To develop a cell model that can be applied to conditions primarily affecting proprioceptors, we set up a protocol to differentiate iPSCs into primary proprioceptive neurons. We modified the dual-SMAD inhibition/WNT activation protocol, previously used to generate nociceptor-enriched cultures of primary sensory neurons from iPSCs, to favor instead the generation of proprioceptors. We succeeded in substantially enriching iPSC-derived primary sensory neuron cultures for proprioceptors, up to 50% of finally differentiated neurons, largely exceeding the proportion of 7.5% normally represented by these cells in dorsal root ganglia. We also showed that almost pure populations of proprioceptors can be purified from these cultures by fluorescence-activated cell sorting. Finally, we demonstrated that the protocol can be used to generate proprioceptors from iPSCs from FRDA patients, providing a cell model for this genetic sensory neuronopathy.
MeSH term(s)	Cell Differentiation ; Friedreich Ataxia/pathology ; Humans ; Induced Pluripotent Stem Cells/pathology ; Proprioception ; Sensory Receptor Cells/pathology
Language	English
Publishing date	2020-05-08
Publishing country	England
Document type	Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	2615211-3
ISSN	2045-2322 ; 2045-2322
ISSN (online)	2045-2322
ISSN	2045-2322
DOI	10.1038/s41598-020-64831-6
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Article ; Online: Neurodevelopmental outcomes of very preterm infants born following early foetal growth restriction with absent end-diastolic umbilical flow.

Della Gatta, Anna Nunzia / Aceti, Arianna / Spinedi, Sofia Fiore / Martini, Silvia / Corvaglia, Luigi / Sansavini, Alessandra / Zuccarini, Mariagrazia / Lenzi, Jacopo / Seidenari, Anna / Dionisi, Camilla / Pilu, Gianluigi / Simonazzi, Giuliana

European journal of pediatrics

2023 Volume 182, Issue 10, Page(s) 4467–4476

Abstract: This study aims to assess the impact of time of onset and features of early foetal growth restriction (FGR) with absent end-diastolic flow (AEDF) on pregnancy outcomes and on preterm infants' clinical and neurodevelopmental outcomes up to 2 years ... ...

Abstract	This study aims to assess the impact of time of onset and features of early foetal growth restriction (FGR) with absent end-diastolic flow (AEDF) on pregnancy outcomes and on preterm infants' clinical and neurodevelopmental outcomes up to 2 years corrected age. This is a retrospective, cohort study led at a level IV Obstetric and Neonatal Unit in Bologna, Italy. Pregnant women were eligible if having singleton pregnancies, with no major foetal anomaly detected, and diagnosed with early FGR + AEDF (defined as FGR + AEDF detected before 32 weeks gestation). Early FGR + AEDF was further classified according to time of onset and specific features into very early and persistent (VEP, FGR + AEDF first detected at 20-24 weeks gestation and persistent at the following scans), very early but transient (VET, FGR + AEDF detected at 20-24 weeks gestation and progressively improving at the following scans) and later (LA, FGR + AEDF detected between 25 and 32 weeks gestation). Pregnancy and neonatal outcomes and infant follow-up data were collected and compared among groups. Neurodevelopment was assessed using the revised Griffiths Mental Developmental Scales (GMDS-R) 0-2 years. A regression analysis was performed to identify early predictors of preterm infants' neurodevelopmental impairment. Fifty-two pregnant women with an antenatal diagnosis of early FGR + AEDF were included in the study (16 VEP, 14 VET, 22 LA). Four intrauterine foetal deaths occurred, all in the VEP group (p = 0.010). Compared to LA infants, VEP infants were born with lower gestational age and lower birth weight, had lower arterial cord blood pH and were at higher risk for intraventricular haemorrhage and periventricular leukomalacia (p < 0.05 for all comparisons). At 12 months, VEP infants had worse GMDS-R scores, both in the general quotient (mean [SD] 91.8 [12.4] vs 104.6 [8.7] in LA) and in the performance domain (mean [SD] 93.3 [15.4] vs 108.8 [8.8] in LA). This latter difference persisted at 24 months (mean [SD] 68.3 [17.0] vs 92.9 [17.7] in LA). In multivariate analysis, at 12 months corrected age, PVL was found to be an independent predictor of impaired general quotient, while the features and timing of antenatal Doppler alterations predicted worse scores in the performance domain. Conclusion: Timing of onset and features of early FGR + AEDF might impact differently on neonatal clinical and neurodevelopmental outcomes. Shared awareness of the importance of FGR + AEDF features between obstetricians and neonatologists may offer valuable tools for antenatal counselling and for tailoring pregnancy management and neonatal follow-up in light of specific antenatal and neonatal risk factors. What is Known: • Foetal growth restriction (FGR), together with antenatal umbilical Doppler abnormalities, is known to affect maternal and neonatal outcomes. • Infants born preterm and growth-restricted face the highest risk for neurodevelopmental impairment, especially when FGR occurs early during pregnancy (early FGR, before 32 weeks gestation). What is New: • The timing of onset and features of FGR and antenatal umbilical Doppler abnormalities impact differently on maternal and neonatal outcomes; when FGR and Doppler abnormalities occur very early, at the limit of neonatal viability, and persist until delivery, infants face the highest risk for neurodevelopmental impairment. • Shared knowledge between obstetricians and neonatologists about timing of onset and features of FGR would provide a valuable tool for informed antenatal counselling in high-risk pregnancies.
MeSH term(s)	Infant ; Pregnancy ; Female ; Infant, Newborn ; Humans ; Fetal Growth Retardation/diagnosis ; Infant, Premature ; Cohort Studies ; Retrospective Studies ; Umbilical Arteries/diagnostic imaging ; Gestational Age ; Ultrasonography, Prenatal
Language	English
Publishing date	2023-07-25
Publishing country	Germany
Document type	Journal Article
ZDB-ID	194196-3
ISSN	1432-1076 ; 0340-6199 ; 0943-9676
ISSN (online)	1432-1076
ISSN	0340-6199 ; 0943-9676
DOI	10.1007/s00431-023-05104-y
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Article ; Online: Cognitive Performance in Relapsing-Remitting Multiple Sclerosis: At Risk or Impaired?

Altieri, Marta / Fratino, Mariangela / Maestrini, Ilaria / Dionisi, Claudia / Annecca, Rosanna / Vicenzini, Edoardo / Di Piero, Vittorio

Dementia and geriatric cognitive disorders

2021 Volume 49, Issue 6, Page(s) 539–543

Abstract: Introduction: Since cognitive impairment (CI) occurs on average in 45% of multiple sclerosis (MS) patients, the early detection of patients "at risk" of CI is important in order to promptly apply preventive strategies. The aim of the present study was ... ...

Abstract	Introduction: Since cognitive impairment (CI) occurs on average in 45% of multiple sclerosis (MS) patients, the early detection of patients "at risk" of CI is important in order to promptly apply preventive strategies. The aim of the present study was to investigate the prevalence and risk factors for CI in MS patients using the Brief International Cognitive Assessment for Multiple Sclerosis (BICAMS) as a screening test. Methods: During the 1-year period, CI was evaluated in 82 consecutives mild relapsing-remitting MS (EDSS ≤ 3.5) patients. Patients with 1 altered BICAMS test were defined "at risk." Both "at risk" and CI patients underwent an extensive neuropsychological battery. Results: We found that: (i) 23% had CI, (ii), 25% were "at risk" of CI, and (iii) 76% of the "at risk" patients were already impaired at the NP assessment. In particular, the Symbol Digit Modalities Test was the most compromised (70% of "at risk" and 79% of CI patients). Patients with CI had more frequently an EDSS ≥ 2.5 (p = 0.05), lower education (p = 0.05), and relapses in the last 12 months (p = 0.03). Conclusions: CI is a significant issue in MS and integration of a screening test, such as the SDMT, into routine clinical practice could be of worth to identify "at risk" patients and to promote an early therapeutic intervention.
MeSH term(s)	Cognition ; Cognitive Dysfunction/complications ; Cognitive Dysfunction/psychology ; Female ; Humans ; Male ; Middle Aged ; Multiple Sclerosis, Relapsing-Remitting/complications ; Multiple Sclerosis, Relapsing-Remitting/psychology ; Neuropsychological Tests
Language	English
Publishing date	2021-03-18
Publishing country	Switzerland
Document type	Journal Article
ZDB-ID	1026007-9
ISSN	1421-9824 ; 1013-7424
ISSN (online)	1421-9824
ISSN	1013-7424
DOI	10.1159/000514674
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Article ; Online: DNA methylation in Friedreich ataxia silences expression of frataxin isoform E.

Rodden, Layne N / Gilliam, Kaitlyn M / Lam, Christina / Rojsajjakul, Teerapat / Mesaros, Clementina / Dionisi, Chiara / Pook, Mark / Pandolfo, Massimo / Lynch, David R / Blair, Ian A / Bidichandani, Sanjay I

Scientific reports

2022 Volume 12, Issue 1, Page(s) 5031

Abstract: Epigenetic silencing in Friedreich ataxia (FRDA), induced by an expanded GAA triplet-repeat in intron 1 of the FXN gene, results in deficiency of the mitochondrial protein, frataxin. A lesser known extramitochondrial isoform of frataxin detected in ... ...

Abstract	Epigenetic silencing in Friedreich ataxia (FRDA), induced by an expanded GAA triplet-repeat in intron 1 of the FXN gene, results in deficiency of the mitochondrial protein, frataxin. A lesser known extramitochondrial isoform of frataxin detected in erythrocytes, frataxin-E, is encoded via an alternate transcript (FXN-E) originating in intron 1 that lacks a mitochondrial targeting sequence. We show that FXN-E is deficient in FRDA, including in patient-derived cell lines, iPS-derived proprioceptive neurons, and tissues from a humanized mouse model. In a series of FRDA patients, deficiency of frataxin-E protein correlated with the length of the expanded GAA triplet-repeat, and with repeat-induced DNA hypermethylation that occurs in close proximity to the intronic origin of FXN-E. CRISPR-induced epimodification to mimic DNA hypermethylation seen in FRDA reproduced FXN-E transcriptional deficiency. Deficiency of frataxin E is a consequence of FRDA-specific epigenetic silencing, and therapeutic strategies may need to address this deficiency.
MeSH term(s)	Animals ; DNA/metabolism ; DNA Methylation ; Friedreich Ataxia/genetics ; Humans ; Iron-Binding Proteins/genetics ; Iron-Binding Proteins/metabolism ; Mice ; Protein Isoforms/metabolism ; Trinucleotide Repeat Expansion ; Frataxin
Chemical Substances	Iron-Binding Proteins ; Protein Isoforms ; DNA (9007-49-2)
Language	English
Publishing date	2022-03-23
Publishing country	England
Document type	Journal Article ; Research Support, N.I.H., Extramural ; Research Support, Non-U.S. Gov't
ZDB-ID	2615211-3
ISSN	2045-2322 ; 2045-2322
ISSN (online)	2045-2322
ISSN	2045-2322
DOI	10.1038/s41598-022-09002-5
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Article: Erratum to: Assessment of radiation protection awareness and knowledge about radiological examination doses among Italian radiographers.

Paolicchi, F / Miniati, F / Bastiani, L / Faggioni, L / Ciaramella, A / Creonti, I / Sottocornola, C / Dionisi, C / Caramella, D

Insights into imaging

2016 Volume 7, Issue 2, Page(s) 243–244

Language	English
Publishing date	2016-01-18
Publishing country	Germany
Document type	Published Erratum
ZDB-ID	2543323-4
ISSN	1869-4101
ISSN	1869-4101
DOI	10.1007/s13244-015-0458-1
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Article: Assessment of radiation protection awareness and knowledge about radiological examination doses among Italian radiographers.

Paolicchi, F / Miniati, F / Bastiani, L / Faggioni, L / Ciaramella, A / Creonti, I / Sottocornola, C / Dionisi, C / Caramella, D

Insights into imaging

2015 Volume 7, Issue 2, Page(s) 233–242

Abstract: Objectives: To evaluate radiation protection basic knowledge and dose assessment for radiological procedures among Italian radiographers: Methods: A validated questionnaire was distributed to 780 participants with balanced demographic characteristics ...

Abstract	Objectives: To evaluate radiation protection basic knowledge and dose assessment for radiological procedures among Italian radiographers Methods: A validated questionnaire was distributed to 780 participants with balanced demographic characteristics and geographic distribution. Results: Only 12.1 % of participants attended radiation protection courses on a regular basis. Despite 90 % of radiographers stating to have sufficient awareness of radiation protection issues, most of them underestimated the radiation dose of almost all radiological procedures. About 5 % and 4 % of the participants, respectively, claimed that pelvis magnetic resonance imaging and abdominal ultrasound exposed patients to radiation. On the contrary, 7.0 % of the radiographers stated that mammography does not use ionising radiation. About half of participants believed that radiation-induced cancer is not dependent on age or gender and were not able to differentiate between deterministic and stochastic effects. Young radiographers (with less than 3 years of experience) showed a higher level of knowledge compared with the more experienced radiographers. Conclusions: There is a substantial need for radiographers to improve their awareness of radiation protection issues and their knowledge of radiological procedures. Specific actions such as regular training courses for both undergraduate and postgraduate students as well as for working radiographers must be considered in order to assure patient safety during radiological examinations. Main messages: • Radiographers should improve their knowledge on radiation protection issues. • Only 12.1 % of participants attended radiation protection courses on a regular basis. • Specific actions must be considered in order to increase knowledge and awareness.
Language	English
Publishing date	2015-11-23
Publishing country	Germany
Document type	Journal Article
ZDB-ID	2543323-4
ISSN	1869-4101
ISSN	1869-4101
DOI	10.1007/s13244-015-0445-6
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