Stefano Piazza  Giulia Martinelli  Andrea Magnavacca  Marco Fumagalli  Carola Pozzoli  Massimo Terno  Luisa Canilli  Marco Angarano  Nicole Maranta  Mario Dell&#x;Agli  Enrico Sangiovanni 《International journal of molecular sciences》2022,23(16)

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Romina Romaniello  Ludovica Pasca  Elena Panzeri  Fulvio D&#x;Abrusco  Lorena Travaglini  Valentina Serpieri  Sabrina Signorini  Chiara Aiello  Enrico Bertini  Maria Teresa Bassi  Enza Maria Valente  Ginevra Zanni  Renato Borgatti  Filippo Arrigoni 《International journal of molecular sciences》2022,23(12)

The inositol 1,4,5-triphosphate receptor type 1 (ITPR1) gene encodes an InsP₃-gated calcium channel that modulates intracellular Ca²⁺ release and is particularly expressed in cerebellar Purkinje cells. Pathogenic variants in the ITPR1 gene are associated with different types of autosomal dominant spinocerebellar ataxia: SCA15 (adult onset), SCA29 (early-onset), and Gillespie syndrome. Cerebellar atrophy/hypoplasia is invariably detected, but a recognizable neuroradiological pattern has not been identified yet. With the aim of describing ITPR1-related neuroimaging findings, the brain MRI of 14 patients with ITPR1 variants (11 SCA29, 1 SCA15, and 2 Gillespie) were reviewed by expert neuroradiologists. To further evaluate the role of superior vermian and hemispheric cerebellar atrophy as a clue for the diagnosis of ITPR1-related conditions, the ITPR1 gene was sequenced in 5 patients with similar MRI pattern, detecting pathogenic variants in 4 of them. Considering the whole cohort, a distinctive neuroradiological pattern consisting in superior vermian and hemispheric cerebellar atrophy was identified in 83% patients with causative ITPR1 variants, suggesting this MRI finding could represent a hallmark for ITPR1-related disorders.  相似文献   

    

Luca Bosco  Daniela Leone  Laura Costa Comellas  Mauro Monforte  Marika Pane  Eugenio Mercuri  Enrico Bertini  Adele D&#x;Amico  Fabiana Fattori 《International journal of molecular sciences》2022,23(18)

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Enrico Cortese  Alessandro Galenda  Alessia Famengo  Luca Cappellin  Marco Roverso  Alessio G. Settimi  Manuele Dabal  Diego De Stefani  Alessandro Fassina  Gianluigi Serianni  Vanni Antoni  Lorella Navazio 《International journal of molecular sciences》2022,23(18)

Non-thermal plasma technology is increasingly being applied in the plant biology field. Despite the variety of beneficial effects of plasma-activated water (PAW) on plants, information about the mechanisms of PAW sensing by plants is still limited. In this study, in order to link PAW perception to the positive downstream responses of plants, transgenic Arabidopsis thaliana seedlings expressing the Ca²⁺-sensitive photoprotein aequorin in the cytosol were challenged with water activated by low-power non-thermal plasma generated by a dielectric barrier discharge (DBD) source. PAW sensing by plants resulted in the occurrence of cytosolic Ca²⁺ signals, whose kinetic parameters were found to strictly depend on the operational conditions of the plasma device and thus on the corresponding mixture of chemical species contained in the PAW. In particular, we highlighted the effect on the intracellular Ca²⁺ signals of low doses of DBD-PAW chemicals and also presented the effects of consecutive plant treatments. The results were discussed in terms of the possibility of using PAW-triggered Ca²⁺ signatures as benchmarks to accurately modulate the chemical composition of PAW in order to induce environmental stress resilience in plants, thus paving the way for further applications in agriculture.  相似文献   

    

Serena Bianchi  Sara Bernardi  Antonella Mattei  Loredana Cristiano  Leonardo Mancini  Diana Torge  Giuseppe Varvara  Guido Macchiarelli  Enrico Marchetti 《International journal of molecular sciences》2022,23(9)

Several types of deproteinised bovine bone mineral (DBBM) are available on the market, and each one is obtained with a thermic and chemical process that can differ, achieving different results. Currently, several protocols using low temperature are suggested to reduce the possible particle crystallisation during the production process. This study aimed to evaluate the biomorphological reaction of periodontal fibroblast cultures in contact with different DBBM particles treated with a low-temperature protocol (Thermagen^®) and without exposure to sodium hydroxide (NaOH). Morphological evaluation was performed using light, confocal laser, and scanning electron microscopy, and the biological reaction in terms of proliferation was performed using an XTT proliferation assay at 24 h (T1), 72 h (T2), and 7 days (T3). The morphological analysis highlighted how the presence of the materials stimulated a change in the morphology of the cells into a polygonal shape, surface reactions with the thickening of the membrane, and expression of actin. In particular, the morphological changes were appreciable from T1, with a progressive increase in the considered morphological characteristics at T2 and T3 follow-ups. The proliferation assay showed a statistical significance between the different experimental materials and the negative control in T2 and T3 follow-ups. The post hoc analysis did not reveal any differences between the materials. In conclusion, the grafts obtained with the low-temperature extractions protocol and not exposed to NaOH solution showed positive morphological reactions with no differences in the sizes of particles.  相似文献   

    

Antonio Luca Spiezia  Antonio Carotenuto  Aniello Iovino  Marcello Moccia  Matteo Gastaldi  Rosa Iodice  Enrico Tedeschi  Maria Petracca  Luigi Lavorgna  Alessandro d&#x;Ambrosio  Vincenzo Brescia Morra  Roberta Lanzillo 《International journal of molecular sciences》2022,23(23)

(1) The co-occurrence of AQP4 and myelin oligodendrocyte glycoprotein (MOG) antibodies in patients with demyelinating disorders is extremely rare. In addition, a concomitant involvement of the peripheral nervous system (PNS) has been described either in association with AQP4 antibodies-positive neuromyelitis optica spectrum disorder (NMOSD), or MOG-associated disease. We report on a case of NMOSD with co-occurrence of AQP4 and MOG antibodies and concomitant central and peripheral nervous system involvement. We also reviewed available cases of AQP4-MOG double-positive patients. (2) Brain and spine MRI, cerebrospinal fluid studies, and electrophysiological test were performed. Serum AQP4 and MOG positivity was assessed with live cell-based assay. (3) A 62-year-old woman presented with recurrent optic neuritis, myelitis, and radiculitis, tested positive for AQP4 and MOG antibodies, and was treated successfully with rituximab. (4) Although few cases of AQP4-MOG double-positive patients were already described mostly affecting females with a concomitant spinal cord and optical nerve involvement, we describe the first case of double-positive NMOSD with the peculiar involvement of both central and peripheral nervous system.  相似文献   

    

Adriano Pasqui  Anna Boddi  Domenico Andrea Campanacci  Guido Scoccianti  Andrea Bernini  Daniela Grasso  Elisabetta Gambale  Federico Scolari  Ilaria Palchetti  Annarita Palomba  Sara Fancelli  Enrico Caliman  Lorenzo Antonuzzo  Serena Pillozzi 《International journal of molecular sciences》2022,23(15)

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Ramona Erber  Miriam Angeloni  Robert Sthr  Michael P. Lux  Daniel Ulbrich-Gebauer  Enrico Pelz  Agnes Bankfalvi  Kurt W. Schmid  Robert F. H. Walter  Martina Vetter  Christoph Thomssen  Doris Mayr  Frederick Klauschen  Peter Sinn  Karl Sotlar  Katharina Stering  Albrecht Stenzinger  Marius Wunderle  Peter A. Fasching  Matthias W. Beckmann  Oliver Hoffmann  Rainer Kimmig  Nadia Harbeck  Rachel Wuerstlein  Fulvia Ferrazzi  Arndt Hartmann 《International journal of molecular sciences》2022,23(15)

In intermediate risk hormone receptor (HR) positive, HER2 negative breast cancer (BC), the decision regarding adjuvant chemotherapy might be facilitated by multigene expression tests. In all, 142 intermediate risk BCs were investigated using the PAM50-based multigene expression test Prosigna® in a prospective multicentric study. In 119/142 cases, Prosigna® molecular subtyping was compared with local and two central (C1 and C6) molecular-like subtypes relying on both immunohistochemistry (IHC; HRs, HER2, Ki-67) and IHC + tumor grade (IHC+G) subtyping. According to local IHC, 35.4% were Luminal A-like and 64.6% Luminal B-like subtypes (local IHC+G subtype: 31.9% Luminal A-like; 68.1% Luminal B-like). In contrast to local and C1 subtyping, C6 classified >2/3 of cases as Luminal A-like. Pairwise agreement between Prosigna® subtyping and molecular-like subtypes was fair to moderate depending on molecular-like subtyping method and center. The best agreement was observed between Prosigna® (53.8% Luminal A; 44.5% Luminal B) and C1 surrogate subtyping (Cohen’s kappa = 0.455). Adjuvant chemotherapy was suggested to 44.2% and 88.6% of Prosigna® Luminal A and Luminal B cases, respectively. Out of all Luminal A-like cases (locally IHC/IHC+G subtyping), adjuvant chemotherapy was recommended if Prosigna® testing classified as Prosigna® Luminal A at high / intermediate risk or upgraded to Prosigna® Luminal B.  相似文献   

    

Brumer  Irène  De Vita  Enrico  Ashmore  Jonathan  Jarosz  Jozef  Borri  Marco 《Magma (New York, N.Y.)》2022,35(3):365-373

Objective

There is a pressing need to assess user-dependent reproducibility of multi-fibre probabilistic tractography in order to encourage clinical implementation of these advanced and relevant approaches. The goal of this study was to evaluate both intrinsic and inter-user reproducibility of corticospinal tract estimation.

Materials and methods

Six clinical datasets including motor functional and diffusion MRI were used. Three users performed an independent tractography analysis following identical instructions. Dice indices were calculated to quantify the reproducibility of seed region, fMRI-based end region, and streamline maps.

Results

The inter-user reproducibility ranged 41–93%, 29–94%, and 50–92%, for seed regions, end regions, and streamline maps, respectively. Differences in streamline maps correlated with differences in seed and end regions. Good inter-user agreement in seed and end regions, yielded inter-user reproducibility close to the intrinsic reproducibility (92–97%) and in most cases higher than 80%.

Discussion

Uncertainties related to user-dependent decisions and the probabilistic nature of the analysis should be considered when interpreting probabilistic tractography data. The standardization of the methods used to define seed and end regions is a necessary step to improve the accuracy and robustness of multi-fiber probabilistic tractography in a clinical setting. Clinical users should choose a feasible compromise between reproducibility and analysis duration.

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Fabio Forghieri  Giovanni Riva  Ivana Lagreca  Patrizia Barozzi  Francesca Bettelli  Ambra Paolini  Vincenzo Nasillo  Beatrice Lusenti  Valeria Pioli  Davide Giusti  Andrea Gilioli  Corrado Colasante  Laura Galassi  Hillary Catellani  Francesca Donatelli  Annalisa Talami  Rossana Maffei  Silvia Martinelli  Leonardo Potenza  Roberto Marasca  Enrico Tagliafico  Rossella Manfredini  Tommaso Trenti  Patrizia Comoli  Mario Luppi 《International journal of molecular sciences》2021,22(17)

The C-terminal aminoacidic sequence from NPM1-mutated protein, absent in normal human tissues, may serve as a leukemia-specific antigen and can be considered an ideal target for NPM1-mutated acute myeloid leukemia (AML) immunotherapy. Different in silico instruments and in vitro/ex vivo immunological platforms have identified the most immunogenic epitopes from NPM1-mutated protein. Spontaneous development of endogenous NPM1-mutated-specific cytotoxic T cells has been observed in patients, potentially contributing to remission maintenance and prolonged survival. Genetically engineered T cells, namely CAR-T or TCR-transduced T cells, directed against NPM1-mutated peptides bound to HLA could prospectively represent a promising therapeutic approach. Although either adoptive or vaccine-based immunotherapies are unlikely to be highly effective in patients with full-blown leukemia, these strategies, potentially in combination with immune-checkpoint inhibitors, could be promising in maintaining remission or preemptively eradicating persistent measurable residual disease, mainly in patients ineligible for allogeneic hematopoietic stem cell transplant (HSCT). Alternatively, neoantigen-specific donor lymphocyte infusion derived from healthy donors and targeting NPM1-mutated protein to selectively elicit graft-versus-leukemia effect may represent an attractive option in subjects experiencing post-HSCT relapse. Future studies are warranted to further investigate dynamics of NPM1-mutated-specific immunity and explore whether novel individualized immunotherapies may have potential clinical utility in NPM1-mutated AML patients.  相似文献