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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

Box Behnken design-based optimized extraction of non-dioxin-like PCBs for GC-ECD and GC-MS analyses in milk samples

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Emerging Contaminants 2020年第1期6卷 303-311页

作者： Valeria Nardelli Valeria D’Amico Ines Della Rovere Francesco Casamassima Wadir Mario valentino Marchesiello Donatella Nardiello Maurizio Quinto Istituto Zooprofilattico Sperimentale della Puglia e della Basilicata Via Manfredonia 20Foggia71121Italy Dipartimento di Scienze Agrarie degli Alimenti e dell’Ambiente-Universita degli Studi di FoggiaVia Napoli2571122FoggiaItaly Key Laboratory of Natural Resources of the Changbai Mountain and Functional Molecules Yanbian UniversityPark Road 977133002YanjiChina

A multivariate optimization process of the sample extraction procedure by Box-Behnken design through a global desirability function is described for the determination of six non-dioxin-like polychlorinated biphenyls(NDL-PCBs#28,52,101,153,138 and 180)in milk by GC-ECD and mass *** factors were involved in refining the extraction conditions:the acetone percentage in the extraction mixture,the sample/solvent ratio,and the extraction *** three-factor design required 26 experiments that were carried out in duplicate and in a randomized order to minimize the bias effects of uncontrolled *** optimized factors(acetone percentage:30%;sample-to-solvent ratio:0.11 g mL^-1;extraction time:45 min)ensured a low solvent consumption and a reduced extraction time,allowing a rapid and simultaneous preparation of multiple sample *** method was validated according to the European directives(Decision 657/2002/EC,SANTE 2017/11813/EC)through the evaluation of linearity,selectivity,LOD,LOQ,recovery,precision,and ruggedness.

关键词： NDL-PCBs Box behnken experimental design Milk GC-ECD Extraction process optimization Method validation

First principles materials design of novel functional oxides

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Journal of Advanced Dielectrics 2016年第2期6卷 61-69页

作者： valentino R.Cooper Brian K.Voas Craig A.Bridges James R.Morris Scott P.Beckman Materials Science and Technology Division Oak Ridge National Laboratory Oak RidgeTN 37831USA Department of Materials Science and Engineering Iowa State University AmesIA 50011USA Chemical Sciences Division Oak Ridge National Laboratory Oak RidgeTN 37831USA School of Mechanical and Materials Engineering Washington State University PulmannWA 99196USA

We review our efforts to develop and implement robust computational approaches for exploring phase stability to facilitate the prediction-to-synthesis process of novel functional *** efforts focus on a synergy between(i)electronic structure calculations for properties predictions,(ii)phenomenological/empirical methods for examining phase stability as related to both phase segregation and temperature-dependent transitions and(iii)experimental validation through synthesis and characteri*** illustrate this philosophy by examining an inaugural study that seeks to discover novel functional oxides with high piezoelectric *** results show progress towards developing a framework through which solid solutions can be studied to predict materials with enhanced properties that can be synthesized and remain active under device relevant conditions.

关键词： First principles materials design and discovery oxide solid solutions.

Evolution of Microstructure and Mechanical Property during Long-Term Aging in Udimet 720Li

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Journal of Materials Science & Technology 2001年第6期17卷 633-637页

作者： Lanzhang ZHOU and valentino LUPINC CNR-TeMPE, Via R. Cozzi 53, 20125 Milano, Italy Jianting GUO Institute of Metal Research, CAS, 72 Wenhua Road, Shenyang 110016, China [Manuscript received January 8, 2001, in Inst. of Metal. Res. Chinese Acad. of Sci. Shenyang 110016 China

Thermal stabilities of microstructure and mechanical property have been investigated on superalloy U720Li, which is of great interest of application for jet engine and land-based turbine disc. The results showed that, the primary and secondary gamma' particles maintain good thermal stability at 650 and 700 degreesC with aging time up to 3000 h, while the tertiary gamma' is apparently dependent on aging temperature and time. The tertiary gamma' particles undergo a procedure of coarsening, dissolution and eventually complete disappearance with the increasing of aging time and temperature. They exhibit unusual high sensibility upon aging temperature, which is attributed to the lattice misfit between the gamma' precipitates and the matrix in the alloy. The grain boundary phase M23C6 remains stable without forming of sigma phase even with aging time up to 3000 h at 700 degreesC. Microhardness decreases apparently with increasing aging time and aging temperature. Theoretical analysis based on dislocation mechanism indicates that the change of microhardness should be attributed to the evolution of the tertiary gamma' during aging.

关键词： Evolution of Microstructure and Mechanical Property during Long-Term Aging in Udimet 720Li Long

Genetic dissection of climacteric fruit ripening in a melon population segregating for ripening behavior

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Horticulture Research 2020年第1期7卷 459-476页

作者： Lara Pereira Miguel Santo Domingo valentino Ruggieri Jason Argyris Michael A.Phillips Guangwei Zhao Qun Lian Yongyang Xu Yuhua He Sanwen Huang Marta Pujol Jordi Garcia-Mas Centre for Research in Agricultural Genomics(CRAG)CSIC-IRTA-UAB-UB Edifici CRAGCampus UAB08193 CerdanyolaBarcelonaSpain IRTA(Institut de Recerca i Tecnologia Agroalimentàries) Edifici CRAGCampus UAB08193 CerdanyolaBarcelonaSpain Department of Biology University of Toronto–MississaugaMississaugaON L5L 1C6Canada Zhengzhou Fruit Research Institute Chinese Academy of Agricultural SciencesZhengzhouChina Shenzhen Branch Guangdong Laboratory for Lingnan Modern AgricultureGenome Analysis Laboratory of the Ministry of AgricultureAgricultural Genomics Institute at ShenzhenChinese Academy of Agricultural SciencesShenzhenChina

Melon is as an alternative model to understand fruit ripening due to the coexistence of climacteric and non-climacteric varieties within the same species,allowing the study of the processes that regulate this complex trait with genetic *** phenotyped a population of recombinant inbred lines(RILs),obtained by crossing a climacteric(Védrantais,cantalupensis type)and a non-climcteric variety(Piel de Sapo T111,inodorus type),for traits related to climacteric maturation and ethylene *** in the RIL population exhibited various combinations of phenotypes that differed in the amount of ethylene produced,the early onset of ethylene production,and other phenotypes associated with *** characterized a major QTL on chromosome 8,ETHQV8.1,which is sufficient to activate climacteric ripening,and other minor QTLs that may modulate the climacteric *** ETHQV8.1 allele was validated by using two reciprocal introgression line populations generated by crossing Védrantais and Piel de Sapo and analyzing the ETHQV8.1 region in each of the genetic backgrounds.A Genome-wide association study(GWAS)using 211 accessions of the *** further identified two regions on chromosome 8 associated with the production of aromas,one of these regions overlapping with the 154.1 kb interval containing *** ETHQV8.1 region contains several candidate genes that may be related to fruit *** work sheds light into the regulation mechanisms of a complex trait such as fruit ripening.

关键词： behavior fruit reciprocal

Introduction to computer numerical control (CNC) 英文版

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Genetic Diversity within Wild Potato Species (Solanum spp.) Revealed by AFLP and SCAR Markers

丛书名：经典原版书库

2008年

作者： (美) James V. valentino Joseph Goldenberg

本书以培养学生的铣削加工和车削手工编程能力为目标, 重点讲授手工编程的知识并培养学生相关的能力, 对于手工编制数控加工程序所必要的机床、刀具、形位公差、车间工作流程等知识给出了图文并茂、实用性强的介绍。

ISBN: (纸本)978894827661;9787111247364

关键词： Machinetools

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American Journal of Plant Sciences 2010年第2期1卷 95-103页

作者： Angelina Nunziata valentino Ruggieri Nicola Greco Luigi Frusciante Amalia Barone 不详

Exploitation of variability displayed by wild Solanum species for breeding the cultivated potato (S. tuberosum) requires phenotypic and genotypic characterization of germplasm resources. In the present work, a collection of 15 wild Solanum species was investigated for resistance to pathotype Ro2 of the nematode Globodera rostochiensis. Most of the genotypes reduced reproduction of the nematode, compared to the control variety Spunta, a highly resistant genotype being an accession of S. tuberosum spp. andigena. The genetic variability of the Gro1 gene cluster, which confers resistance to some pathotypes of G. rostochiensis, was then studied in the Solanum species used in this study. For this purpose, SCAR markers for eight paralogues of Gro1 gene were developed. No species showed the same pattern of the resistant control genotype. Moreover, wide-genome variability was also assessed by using AFLP markers, which allowed species-specific markers to be identified for each genotype analyzed.

关键词： Potato Nematode Resistance Globodera Rostochiensis Gro1 Gene Cluster-SCAR Markers AFLP Markers

Introduction to computer numerical control(CNC) 3rd ed. 3rd ed.

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Therapeutic Path of Dental Expertise in Obstructive Sleep Apnea Syndrome (OSAS)

2003年

作者： James V. valentino

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Modern Research in Inflammation 2018年第1期7卷 1-8页

作者： Antonio Crispino Vincenzo Crispino Luigi Crispino Lucia valentino Leonzio Fortunato Schoolod Dentistry University of Catanzaro Catanzaro Italy Private Practice Agropoli (SA) Italy Magna Graecia Institute Dental Research Center Catanzaro Italy

Obstructive Sleep Apnea Syndrome (OSAS) is a respiratory sleep disorder characterized by repeated episodes of complete or partial obstruction of the upper airway. OSAS has a frequency of 4 percent and is classified according to the number of obstructive sleep apnea-hypopnea episodes. The OSAS diagnostic path starts with the evaluation of the patient’s clinical framework and follows an instrumental procedure, depending on the clinical severity of the patient. Dental practitioners have the ability to intercept early on the signs and symptoms of OSAS. At the same time, they can assess whether the patient has the indications for treatment with specific oral devices (Oral Appliances, OA). The purpose of this paper is to provide guidance for dental management of obstructive sleep apnea syndrome in adult individuals.

关键词： Obstructive Sleep Apnea Sleep Evaluation Positive Airway Pressure Treatment Oral Appliance Treatment