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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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Journal of World Architecture 2019年第4期3卷 13-23页

作者： marilena De Simone Gianmarco Fajilla Departement of Environmental and Chemical Engineering University of CalabriaP.Bucci 44/A87036RendeItaly

Improving occupant's satisfaction represents an important target oriented both towards the increment of productivity and towards the reduction of operational costs related to health and safety of *** considerations are the bases of an interdisciplinary cross-country survey on the human-building interaction in office *** proposed study presents findings from the survey conducted at the University of Calabria(Italy).In particular,both demographic characteristics of the sample and data regarding comfort,satisfaction,and productivity are processed and *** statistical analysis is developed with the aim of highlighting the influence of indoor comfort conditions on the perceived productivity of *** attention is dedicated to the study of genderrelated differences in internal environment *** temperature,quality of indoor air,and acoustics are the most selected causes of dissatisfaction and low perceived productivity both for women and *** responses regarding satisfaction level and perceived productivity are also combined by defining a quantitative indicator named Office Productivity and Satisfaction index(OPSi)that is the ratio between the perceived productivity and the satisfaction level of the considered comfort *** of discomfort are also analyzed and demonstrated gender-related differences in workplaces quality evaluation.

关键词： Office buildings Survey Indoor comfort Satisfaction Productivity Gender

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Occupant Behavior: A “New” Factor in Energy Performance of Buildings - Methods for Its Detection in Houses and in Offices

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Journal of World Architecture 2018年第2期2卷 1-8页

作者： marilena De Simone Gianmarco Fajilla Department of Mechanical Energyand Management EngineeringUniversity of CalabriaP.Bucci 46/C87036RendeItaly

The role that occupants have on energy consumption and performance of buildings is known,but still requires a great deal of *** this paper,the most common techniques to detect occupancy and occupant behavior in buildings are categorized with their advantages and *** the buildings characterized by different energy usage,the presentation of the studies that applied surveys and monitoring campaigns is conducted with differentiation between residential and office buildings.

关键词： occupant behavior occupancy detection energy consumption residential buildings office buildings

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Effectiveness of tertiary treatment processes in removing different classes of emerging contaminants from domestic wastewater

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Frontiers of Environmental Science & Engineering 2022年第11期16卷 261-272页

作者： Olga S.Arvaniti marilena E.Dasenaki Alexandros G.Asimakopoulos Niki C.Maragou Vasilios G.Samaras Korina Antoniou Georgia Gatidou Daniel Mamais Constantinos Noutsopoulos Zacharias Frontistis Nikolaos S.Thomaidis Athanasios S.Stasinakis Department of Environment University of the AegeanMytilene 81100Greece Department of Chemical Engineering University of PatrasPatras 26504Greece Department of Agricultural Development Agrofood and Management of Natural ResourcesNational and Kapodistrian University of AthensPsachna 34400Greece Department of Chemistry National and Kapodistrian University of AthensAthens 15771Greece Department of Chemistry Norwegian University of Science and TechnologyTrondheim NO-7491Norway Core Labs King Abdullah University of Science and TechnologyThuwal 23955-6900Saudi Arabia Sanitary Engineering Laboratory Department of Water Resources and Environmental EngineeringSchool of Civil EngineeringNational Technical University of AthensAthens 15780Greece Department of Chemical Engineering University of Western MacedoniaKozani 50132Greece

In this work,38 different organic emerging contaminants(ECs),belonging to various chemical classes such as pharmaceuticals(PhCs),endocrine-disrupting chemicals(EDCs),benzotriazoles(BTRs),benzothiazoles(BTHs),and perfluorinated compounds(PFCs),were initially identified and quantified in the biologically treated wastewater collected from Athens’(Greece)Sewage Treatment Plant(STP).Processes already used in existing STPs such as microfiltration(MF),nanofiltration(NF),ultrafiltration(UF),UV radiation,and powdered activated carbon(PAC)were assessed for ECs’removal,under the conditions that represent their actual application for disinfection or advanced wastewater *** results indicated that MF removed only one out of the 38 ECs and hence it was selected as pretreatment step for the other *** radiation in the studied conditions showed low to moderate removal for 5 out of the 38 *** showed better results than UF due to the smaller pore sizes of the filtration ***,this enhancement was observed mainly for 8 compounds originating from the classes of PhCs and PFCs,while the removal of EDCs was not statistically *** the various studied technologies,PAC stands out due to its capability to sufficiently remove most *** particular,removal rates higher than 70%were observed for 9 compounds,22 were partially removed,while 7 demonstrated low removal *** on our screening experiments,future research should focus on scaling-up PAC in actual conditions,combining PAC with other processes,and conduct a complete economic and environmental assessment of the treatment.

关键词： Micropollutants Wastewater PAC Membranes UV Tertiary treatment

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Prediction of Concentration of Animal Fat in Mixture with Vegetable Oil by Multivariate Calibration Associated with Spectrofluorimetry

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American Journal of Analytical Chemistry 2013年第2期4卷 99-103页

作者： marilena Meira Cristina M.Quintella Erika Mde O.Ribeiro Alexandre K.Guimaraes Mariana Andrade Santos Gabriela Silva Cerqueira Alexandre Lopes Del Cid Saionara Luna Weidson Leal Silva Instituto de Educacao Ciencia e Tecnologia da BahiaCampus de Simoes FilhoSimoes FilhoBrasil Instituto de Química Universidade Federal da BahiaCampus de OndinaSalvadorBrasil

Total spectrofluorimetry associated with Principal Component Analysis (PCA) was used to discriminate samples of vegetable oil and animal fat. In addition, a multivariate calibration model was developed that combines spectroflurimetry with Partial Least Squares (PLS) for prediction of concentration of animal fat in mixture with vegetable oil. The multivariate calibration model had an R2 value of 0.98098, which indicates the accuracy of the model. This method has potential application in the control of quality of raw material for production of biodiesel. The control of the concentration of animal fat is important because animal fat is more susceptible to oxidation than vegetable oil. Furthermore, high concentrations of animal fats may increase electricity costs for biodiesel production due to the high melting points of saturated fats that solidify at room temperature and cause the fouling and clogging of pipes.

关键词： Biodiesel Vegetable Oil Animal Fat Spectrofluorimetry PLS

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The Pricing of Reverse Mortgages in the Chinese Market

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Chinese Business Review 2021年第2期20卷 73-76页

作者： Di Lorenzo Emilia Piscopo Gabriella Sibillo marilena University Federico II NapoliItaly University of Salerno Fisciano(SA)Italy

Reverse mortgages(RM)are an attractive tool to increase retirement incomes and to face the needs of health care for elderly *** investor in the RM market faces several risks:longevity risk,as retirees’life expectancy increases,interest rate risk,especially in the low-rate post-crisis period,property market risk,in the last stage of the current business *** our pricing model we incorporate the overall risk of the RM,focusing on the feature of the developing Chinese market.

关键词： longevity risk financial risk reverse mortgages pension product

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A Study on the Commonly Adopted Energy Sources and Production Systems for Domestic Hot Water in the Calabria Region (Italy)

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Journal of World Architecture 2021年第2期5卷 1-9页

作者： marilena De Simone Liliangela Callea Gianmarco Fajilla Department of Environmental Engineering(DIAm) University of CalabriaP.Bucci87036Arcavacata di RendeItaly

Worldwide,there are many options to ensure domestic hot water(DHW)provision in *** study aimed to depict the distribution of energy sources and DHW production systems in the Calabria *** research was focused on understanding which variables,among contextual variables and building characteristics,may influence the adoption of a particular energy source or production *** statistics and chi-square test of independence have been *** relationships were found between the climatic zone and the energy source used as well as between the climatic zone and the production system installed in both households with a separated and a combined DHW production ***,the population of the municipality and the dwelling type resulted to be significant variables for the preference of an energy source or the diffusion of a combined production system.

关键词： DHW energy sources DHW production systems Survey Chi-square test

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The role of nitric oxide in cancer

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Cell Research 2002年第Z2期 311-320页

作者： WEIMING XU, Li ZHI LIU, marilena LOIZIDOU, MOHAMED AHMED, IAN G CHARLES Wolfson Institute for Biomedical Research, Cruciform Building, Gower Street, UCL, London, WC1 E 6AUUK Department of Surgery, Charles Bell House, 67-73 Riding House Street, UCL, London W1W 7EJ, UK

Nitric oxide (NO) is a pleiotropic regulator, critical to numerous biological processes, including va-sodilatation, neurotransmission and macrophage-mediated immunity. The family of nitric oxide synthases (NOS) comprises inducible NOS (iNOS), endothelial NOS (eNOS), and neuronal NOS (nNOS). Interestingly, various studies have shown that all three isoforms can be involved in promoting or inhibiting the etiology of cancer. NOS activity has been detected in tumour cells of various histogenetic origins and has been associated with tumour grade, proliferation rate and expression of important signaling components associated with cancer development such as the oestrogen receptor. It appears that high levels of NOS expression (for example, generated by activated macrophages) may be cytostatic or cytotoxic for tumor cells, whereas low level activity can have the opposite effect and promote tumour growth. Paradoxically therefore, NO (and related reactive nitrogen species) may have both genotoxic and angiogenic pro

关键词： nitric oxide oestrogen cancer p53 PARP DNA-PKcs.

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TECHNICAL AND ECONOMIC ASPECTS OF TUNNEL BLASTING ACCURACY CONTROL

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爆破 1994年第1期 8-22页

作者： Renato MANCINI vannt BADIN0 Nicola INNAURAT0 Mauro FORNAR0, marilena CARDU Gian Luca BALDO Gahriele BORLA(DIGET-Politecnico di Torino,ltaly)(DIGET-Politecnico di Torino and CSPM,C.N.R.,Torino,Italy)

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ＴＥＣＨＮＩＣＡＬＡＮＤＥＣＯＮＯＭＩＣＡＳＰＥＣＴＳＯＦＴＵＮＮＥＬＢＬＡＳＴＩＮＧＡＣＣＵＲＡＣＹＣＯＮＴＲＯＬ￥ＲｅｎａｔｏＭＡＮＣＩＮＩ（）；ｖａｎｎｔＢＡＤＩＮ０（）；ＮｉｃｏｌａＩＮＮＡＵＲＡＴ０（＊）；ＭａｕｒｏＦＯＲＮＡＲ０（＊），Ｍ...

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Genotyping and Antifungal Susceptibility Profile of Sequential Candida albicans Isolated from the Oral Cavity of HIV-Infected Individuals

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Journal of Pharmacy and Pharmacology 2018年第4期6卷 350-361页

作者： Daniela Vanessa Moris Joyce Marinho de Souza Marcia Souza Carvalho Melhem marilena dos Anjos Martins Caroline Lucio Moreira Lenice Rosario de Souza Gioconda San-Blas Maria Walderez Szeszs Lidia Raquel Carvalho Marcus Vinicius Pimenta-Rodrigues Rinaldo Poncio Mendes Tropical Diseases Area--Faculdade de Medicina de Botucatu Universidade Estadual Paulista "Julio de Mesquita Filho "--UNESP Sao Paulo Botucatu 18600-000 Brazil Masters in Health Seience--Universidade do Oeste Paulista--UNOESTE Sao Paulo Presidente Prudente 19067-175 Brazil Department of Biomedical Sciences--Universidade do Oeste Paulista--UNOESTE Presidente Prudente 19050-920 Brazil Instituto Adolfo Lutz Sao Paulo 01246-000 Brazil Venezuelan Institute for Scientific Research Center for Microbiology and Cell Biology Caracas 11 01204 Venezuela Biostatistics Department Instituto de Biociencias Universidade Estadual Paulista "Julio de Mesquita Filho "--UNESP Sao Paulo Botueatu 18600-000 Brazil

Objective： The study aimed to evaluate the genotypic profiles of C. albicans （Candida albicans） sequentially isolated throughout the course of HIV infections, and to determine its MIC （minimal inhibitory concentrations） to AMB （amphotericin B）, FLC （fluconazole）, KTC （ketoconazole）, and ITC （itraconazole）. Design： samples were collected from the oral cavity of HIV-positive individuals during 4 years, with a sterilized swab. MIC was performed by using the microdilution method AFST/EUCAST. The genetic similarities within and between sequential clones of C. albicans were assessed by DNA fingerprinting using the random amplification ofpolymorphic DNA technique. Results： A total of 142 oral samples were isolated from 59 HIV-infected individuals who attempted up to five visits each, with or without symptoms of oropharyngeal candidiasis. Profile analysis revealed that yeasts isolated over sequential visits from symptomatic or asymptomatic individuals showed 78% or 87% relatedness, respectively. The degree of similarity among C. albicans was higher for isolates from colonization than for those from infection. Genetically identical C. albicans samples also formed connected subelusters in sequential visits. In regard to susceptibility profile, all isolates were susceptible to AMB, FLC, KTC, and ITC and maintained this pattern all along, no differences in MICs of any given antifungal compound were observed for sequential C. albicans isolates. Conclusions： These data suggest that genotype and susceptibility to antifimgal drugs were maintained over time in sequentially isolates of C. albicans colonization and a diverse evolutionary genetic trend in C. albicans sequentially isolated from the oral eandidiasis of HIV infected individuals.

关键词： Genotyping Candida albicans sequential HIV- positive individuals oral cavity.

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