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Antonella Gambale Roberta Russo Immacolata Andolfo Lucia Quaglietta Gianluca De Rosa Valentina Contestabile Lucia De Martino Rita Genesio Piero Pignataro Sabrina Giglio Mario Capasso Rosanna Parasole Barbara Pasini Achille Iolascon 《Clinical genetics》2019,96(4):359-365
Cancer predisposition syndromes (CPS) result from germline pathogenic variants, and they are increasingly recognized in the etiology of many pediatric cancers. Herein, we report the genetic/genomic analysis of 40 pediatric patients enrolled from 2016 to 2018. Our diagnostic workflow was successful in 50% of screened cases. Overall, the proportion of CPS in our case series is 10.9% (20/184) of enrolled patients. Interestingly, 12.5% of patients achieved a conclusive diagnosis through the analysis of chromosomal imbalance. Indeed, we observed germline microdeletions/duplications of regions encompassing cancer-related genes in 50% of patients undergoing array-CGH: EIF3H duplication in a patient with infantile desmoplastic astrocytoma and low-grade Glioma; SLFN11 deletion, SOX4 duplication, and PARK2 partial deletion in three neuroblastoma patients; a PTPRD partial deletion in a child diagnosed with glioblastoma multiforme. Finally, we identified two cases due to DICER1 germline mutations. 相似文献
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Immacolata Andolfo Roberta Russo Antonella Gambale Achille Iolascon 《American journal of hematology》2018,93(1):107-121
Hereditary stomatocytoses are a wide class of hemolytic anemias characterized by alterations of ionic flux with increased cation permeability that results in inappropriate shrinkage or swelling of the erythrocytes, and water lost or gained osmotically. The last few years have been crucial for new acquisitions in this field in terms of identifying new causative genes and of studying their pathogenetic mechanisms. This review summarizes the main features of erythrocyte membrane transport diseases, dividing them into forms with either isolated erythroid phenotype (nonsyndromic) or extra‐hematological manifestations (syndromic), and focusing particularly on the most recent advances regarding dehydrated forms of hereditary stomatocytosis and familial pseudohyperkalemia. 相似文献
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Targeted next generation sequencing identifies a novel β‐spectrin gene mutation A2059P in two Omani children with hereditary pyropoikilocytosis 下载免费PDF全文
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Nicola M. Martucci Ilaria Rea Immacolata Ruggiero Monica Terracciano Luca De Stefano Nunzia Migliaccio Camillo Palmieri Giuseppe Scala Paolo Arcari Ivo Rendina Annalisa Lamberti 《Biomedical optics express》2015,6(4):1353-1362
In this paper, a new strategy for highly selective and sensitive direct detection of lymphoma cells by exploiting the interaction between a peptide and its B-cell receptor, has been evaluated. In particular, an idiotype peptide, able to specifically bind the B-cell receptor of A20 cells in mice engrafted with A20 lymphoma, has been used as molecular probe. The new detection technique has been demonstrated on a planar crystalline silicon chip. Coverage of 85% of silicon surface and detection efficiency of 8.5 × 10−3 cells/μm2 were obtained. The recognition strategy promises to extend its application in studying the interaction between ligands and their cell-surface receptors.OCIS codes: (000.1430) Biology and medicine, (280.1415) Biological sensing and sensors 相似文献
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Impact of intranasal sodium hyaluronate on the short‐term quality of life of patients undergoing functional endoscopic sinus surgery for chronic rhinosinusitis 下载免费PDF全文
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Cuoco Sofia Erro Roberto Carotenuto Immacolata Picillo Marina Pellecchia Maria Teresa Barone Paolo 《Neurological sciences》2022,43(9):5251-5258
Neurological Sciences - The Fist-Palm Test (FiPaT) is a novel non-verbal task to be used at the patient’s bedside for a cognitive functions screening. The aims of this study are to analyze... 相似文献