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Liver magnetic resonance imaging for evaluation of response to treatment after stereotactic body radiation therapy of hepatocellular carcinoma

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World Journal of Hepatology 2022年第9期14卷 1790-1803页

作者： Alessandro Serafini valeria ruggeri Riccardo Inchingolo Marco Gatti Alessia Guarneri Cesare Maino Davide Ippolito Luigi Grazioli Umberto Ricardi Riccardo Faletti Department of Surgical Sciences University of TurinTurin 10126Italy Department of Radiology University of BresciaBrescia 25123Italy Interventional Radiology Unit Miulli HospitalAcquaviva Delle Fonti 70124Italy Department of Oncology-Radiation Oncology University of TurinTurin 10126Italy Department of Diagnostic Radiology University of Milano-BicoccaMonza 20900Italy Department of Radiology Spedali CiviliUniversity of BresciaBrescia 25023Italy

BACKGROUND Although stereotactic body radiation therapy(SBRT)is increasingly used,its application has not yet been regulated by the main international guidelines,leaving the decision to multidisciplinary *** To assess magnetic resonance imaging(MRI)features of hepatocellular carcinoma(HCC)treated with SBRT,highlighting the efficacy of the treatment and the main aspects of the lesion before and after the *** As part of a retrospective study,49 patients who underwent SBRT for HCC between January 2013 and November 2019 were *** patient under went a pre-treatment MRI examination with a hepatospecific contrast agent and a similar followup examination within 6 mo of *** addition,22 patients underwent a second follow-up examination after the first 6 *** following characteristics were analysed:Features analysed compared to pre-treatment MRI examination,presence or absence of infield and outfield progression,ring-like enhancement,signal hyperintensity in T2-weighted sequences in the perilesional parenchyma,capsular retraction,and"band"signal hypointensity in T1-weighted gradient echo fat saturated sequences obtained during hepatobiliary *** Signal hyperintensity in the T2-weighted sequences showed a statistically significant reduction in the number of lesions at the post-SBRT first control(P=0.0006).Signal hyperintensity in diffusionweighted imaging-weighted sequences was decreased at MRI first control(P<0.0001).A statistically significant increase of apparent diffusion coefficient values from a median of 1.01 to 1.38 at the first post-control was found(P<0.0001).Capsular retraction was increased at the late evaluation(P=0.006).Band-like signal hypointensity in the hepatobiliary phase was present in 94%at the late control(P=0.006).The study of the risk of outfield progression vs infield progression revealed a hazard ratio of *** The efficacy of SBRT should be evaluated not in the first 6 mo,but at least 9 mo pos

关键词： Hepatocellular carcinoma Stereotactic body radiation therapy Magnetic resonance imaging Histopatology Outcome Radiology

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A Multiplex PCR-Based Next-Generation Sequencing Approach Has Detected a Common Large Deletion in STS Gene in a Patient with X-Linked Ichthyosis

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Journal of Biomedical Science and Engineering 2016年第7期9卷 337-341页

作者： Francesco Calì Giuseppa Maria Luana Mandarà Giuseppa ruggeri Corrado Romano valeria Chiavetta Alda Ragalmuto Roberto Salluzzo Valentino Romano Marilena Galati Tardanico Carmelo Schepis Laboratory of Molecular Genetics Unit of Medical Genetics IRCCS Associazione Oasi Maria SS. Troina (EN) Italy Unit of Medical Genetics Azienda Sanitaria Provinciale di Ragusa Ragusa Italy Unit of Paediatrics and Medical Genetics IRCCS Associazione Oasi Maria SS. Troina (EN) Italy Department of Physics and Chemistry University of Palermo Palermo Italy Unit of Dermatology IRCCS Associazione Oasi Maria SS. Troina (EN) Italy

Several nuclear genes have been found to be linked to ichthyosis, and Next Generation Sequencing approach on panels of targeted genes has turned out to be particularly useful in analyzing diseases characterized by significant genetic and phenotypic heterogeneity. We developed a panel of 26 genes to be screened with the Ion Personal Genome Machine (PGM) for causative mutations relating to ichthyosis. Sequencing runs were obtained from a patient with ichthyosis using the Ion Torrent PGM and then processed with Ion Torrent Suite, Variant Caller, Coverage Analysis and wANNOVER tools. No causative mutations were found using Variant Caller and wANNOVER softwares, whereas the “Coverage Analysis” tool revealed a common large deletion in STS gene in a patient with X-linked ichthyosis. Identification of indels in Next Generation Sequencing (NGS) data is a veritable challenge. This study demonstrates the efficacy and effectiveness of using NGS approach to detect large deletions without resorting to specific algorithms for “indel” detection. Our results indicate that the NGS panel is a useful, rapid and cost-effective screening test for patients whose features are suggestive of a genetic etiology involving one of the genes embedded in the panel. It is an excellent alternative to Sanger sequencing as for costs, ease of analysis, and turnaround time.

关键词： X-Linked Ichthyosis STS Gene Next Generation Sequencing Coverage Analysis

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