PROMETHEE-SAPEVO-M1 a Hybrid Approach Based on Ordinal and Cardinal Inputs: Multi-Criteria Evaluation of Helicopters to Support Brazilian Navy Operations

This paper presents a new approach based on Multi-Criteria Decision Analysis (MCDA), named PROMETHEE-SAPEVO-M1, through its implementation and feasibility related to the decision-making process regarding the evaluation of helicopters of attack of the Brazilian Navy. The proposed methodology aims to present an integration of ordinal evaluation into the cardinal procedure from the PROMETHEE method, enabling to perform qualitative and quantitative data and generate the criteria weights by pairwise evaluation, transparently. The modeling provides three models of preference analysis, as partial, complete, and outranking by intervals, along with an intra-criterion analysis by veto threshold, enabling the analysis of the performance of an alternative in a specific criterion. As a demonstration of the application, is carried out a case study by the PROMETHEE-SAPEVO-M1 web platform, addressing a strategic analysis of attack helicopters to be acquired by the Brazilian Navy, from the need to be evaluating multiple specifications with different levels of importance within the context problem. The modeling implementation in the case study is made in detail, first performing the alternatives in each criterion and then presenting the results by three different models of preference analysis, along with the intra-criterion analysis and a rank reversal procedure. Moreover, is realized a comparison analysis to the PROMETHEE method, exploring the main features of the PROMETHEE-SAPEVO-M1. Moreover, a section of discussion is presented, exposing some features and main points of the proposal. Therefore, this paper provides a valuable contribution to academia and society since it represents the application of an MCDA method in the state of the art, contributing to the decision-making resolution of the most diverse real problems.This research was funded by Centre for Research & Development in Mechanical Engineering (CIDEM), School of Engineering of Porto (ISEP), Polytechnic of Porto, Rua Dr. António Bernardino de Almeida, 431 4249-015 Porto, Portugal.info:eu-repo/semantics/publishedVersio

Interactions between chitosan edible coating constituents: performance indicators

info:eu-repo/semantics/publishedVersio

Molecular analysis of holoprosencephaly in South America

Holoprosencephaly (HPE) is a spectrum of brain and facial malformations primarily reflecting genetic factors, such as chromosomal abnormalities and gene mutations. Here, we present a clinical and molecular analysis of 195 probands with HPE or microforms; approximately 72% of the patients were derived from the Latin American Collaborative Study of Congenital Malformations (ECLAMC), and 82% of the patients were newborns. Alobar HPE was the predominant brain defect in almost all facial defect categories, except for patients without oral cleft and median or lateral oral clefts. Ethmocephaly, cebocephaly, and premaxillary agenesis were primarily observed among female patients. Premaxillary agenesis occurred in six of the nine diabetic mothers. Recurrence of HPE or microform was approximately 19%. The frequency of microdeletions, detected using Multiplex Ligation-dependant Probe Amplification (MLPA) was 17% in patients with a normal karyotype. Cytogenetics or QF-PCR analyses revealed chromosomal anomalies in 27% of the probands. Mutational analyses in genes SHH, ZIC2, SIX3 and TGIF were performed in 119 patients, revealing eight mutations in SHH, two mutations in SIX3 and two mutations in ZIC2. Thus, a detailed clinical description of new HPE cases with identified genetic anomalies might establish genotypic and phenotypic correlations and contribute to the development of additional strategies for the analysis of new cases.250262Conselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq

Molecular analysis of holoprosencephaly in South America

Submitted by Santos Bárbara ([email protected]) on 2015-03-03T13:20:16Z No. of bitstreams: 1 Molecular analysis of holoprosencephaly in South America.pdf: 1134600 bytes, checksum: ca8b31fc87aa2e99d5a446f2722eba78 (MD5)Approved for entry into archive by Santos Bárbara ([email protected]) on 2015-03-03T13:20:29Z (GMT) No. of bitstreams: 1 Molecular analysis of holoprosencephaly in South America.pdf: 1134600 bytes, checksum: ca8b31fc87aa2e99d5a446f2722eba78 (MD5)Approved for entry into archive by Santos Bárbara ([email protected]) on 2015-03-03T14:00:31Z (GMT) No. of bitstreams: 1 Molecular analysis of holoprosencephaly in South America.pdf: 1134600 bytes, checksum: ca8b31fc87aa2e99d5a446f2722eba78 (MD5)Made available in DSpace on 2015-03-03T14:00:31Z (GMT). No. of bitstreams: 1 Molecular analysis of holoprosencephaly in South America.pdf: 1134600 bytes, checksum: ca8b31fc87aa2e99d5a446f2722eba78 (MD5) Previous issue date: 2014Universidade Federal do Rio de Janeiro. Departamento de Genética. Estudo Colaborativo Latino Americano de Malformações Congênitas. Rio de Janeiro, RJ, Brasil. / Instituto Nacional de Genética Médica Populacional, Rio de Janeiro, RJ, Brasil.Universidade Federal do Estado do Rio de Janeiro. Departamento de Genética e Biologia Molecular. Rio de Janeiro, RJ, Brasil.Universidade do Estado do Rio de Janeiro. Instituto de Biologia Roberto Alcantara Gomes. Departamento de Genética. Rio de Janeiro, RJ, Brasil.Instituto Cândida Vargas. Maternidade Cândida Vargas. João Pessoa, PB, Brasil.Centro di Consulenza Genetica e di Teratologia della Riproduzione. Dipartimento Materno Infantile. ARNAS Garibaldi Nesima. Catania, CT, Italy.Universidade Estadual de Campinas. Departamento de Genética Médica. Campinas, SP, Brasil.Hospital das Clínicas de Porto Alegre. Serviço de Genética Médica. Porto Alegre, RS, Brasil.Registro Campano Difetti Congeniti. Azienda Ospedaliera “Gaetano Rummo”. Benevento, BN, Italy.Fundação Oswaldo Cruz. Instituto Fernandes Figueira. Centro de Genética Médica. Rio de Janeiro, RJ, Brasil.Universidade Federal do Estado do Rio de Janeiro. Departamento de Genética e Biologia Molecular. Rio de Janeiro, RJ, Brasil. / Fundação Oswaldo Cruz. Estudo Colaborativo Latino Americano de Malformações Congênitas. Laboratório de Epidemiologia de Defeitos Congênitos. Rio de Janeiro, RJ, Brasil.Instituto Nacional de Câncer. Programa de Genética. Rio de Janeiro, RJ, Brasil.Instituto Nacional de Câncer. Programa de Genética. Rio de Janeiro, RJ, Brasil.Instituto Nacional de Genética Médica Populacional, Rio de Janeiro, RJ, Brasil. / Centro de Educación Médica e Investigación Clínica. Estudio Colaborativo Latino Americano de Malformaciones Congenitas. Buenos Aires, Argentina.Universidade Federal do Rio de Janeiro. Departamento de Genética. Estudo Colaborativo Latino Americano de Malformações Congênitas. Rio de Janeiro, RJ, Brasil. / Instituto Nacional de Genética Médica Populacional, Rio de Janeiro, RJ, Brasil.Holoprosencephaly (HPE) is a spectrum of brain and facial malformations primarily reflecting genetic factors, such as chromosomal abnormalities and gene mutations. Here, we present a clinical and molecular analysis of 195 probands with HPE or microforms; approximately 72% of the patients were derived from the Latin American Collabo-rative Study of Congenital Malformations (ECLAMC), and 82% of the patients were newborns. Alobar HPE was the predominant brain defect in almost all facial defect categories, except for patients without oral cleft and median or lat-eral oral clefts. Ethmocephaly, cebocephaly, and premaxillary agenesis were primarily observed among female pa-tients. Premaxillary agenesis occurred in six of the nine diabetic mothers. Recurrence of HPE or microform was approximately 19%. The frequency of microdeletions, detected using Multiplex Ligation-dependant Probe Amplifica-tion (MLPA) was 17% in patients with a normal karyotype. Cytogenetics or QF-PCR analyses revealed chromosomal anomalies in 27% of the probands. Mutational analyses in genesSHH,ZIC2,SIX3andTGIFwere performed in 119 patients, revealing eight mutations inSHH,two mutations inSIX3and two mutations inZIC2. Thus, a detailed clinical description of new HPE cases with identified genetic anomalies might establish genotypic and phenotypic correla-tions and contribute to the development of additional strategies for the analysis of new cases

Germline MLH1, MSH2 and MSH6 variants in Brazilian patients with colorectal cancer and clinical features suggestive of Lynch Syndrome

Brazilian Lynch Study Group Patrícia Santos Silva, Patrícia Koehler-Santos, Silvia Liliana Cossio, Cristina Netto, Gustavo Stumpf da Silva (Laboratório de Medicina Genômica, Centro de Pesquisa Experimental, Hospital de Clínicas de Porto Alegre (HCPA) and Programa de Pós Graduação em Genética e Biologia Molecular, Universidade Federal do Rio Grande do Sul (UFRGS), Porto Alegre, Brazil); Fernando Regla Vargas, Maria Angélica de Lima (Genetics Program Instituto Nacional de Câncer, Rio de Janeiro, Brazil); Cristovam Scapulatempo-Neto, Rui Manuel Reis, André Lopes Carvalho (Molecular Oncology Research Center, Barretos Cancer Hospital, Barretos, Brazil); Carla Pinto, Manuel Rui Teixeira (Serviço de Genética, Instituto Português de Oncologia do Porto (IPO Porto), Porto, Portugal); Danilo Vilela Viana, Benedito Mauro Rossi Junea Caris Oliveira, Henrique Campos Galvão (Oncogenetics Department, Barretos Cancer Hospital, Barretos, Brazil). Paulo Assumpção, Geraldo Ishak, Sérgio Lima Júnior (Núcleo de Pesquisas Oncológicas, Universidade Federal do Pará e Serviço de Cirurgia Geral e do Aparelho Digestivo, Hospital Universitário João Barros Barreto, Universidade Federal do Pará).Submitted by Sandra Infurna ([email protected]) on 2018-12-11T15:53:40Z No. of bitstreams: 1 fernandor_vargas_etal_IOC_2018.pdf: 208776 bytes, checksum: f877182a69fc4008c59b3464cfb5ba59 (MD5)Approved for entry into archive by Sandra Infurna ([email protected]) on 2018-12-11T16:20:08Z (GMT) No. of bitstreams: 1 fernandor_vargas_etal_IOC_2018.pdf: 208776 bytes, checksum: f877182a69fc4008c59b3464cfb5ba59 (MD5)Made available in DSpace on 2018-12-11T16:20:08Z (GMT). No. of bitstreams: 1 fernandor_vargas_etal_IOC_2018.pdf: 208776 bytes, checksum: f877182a69fc4008c59b3464cfb5ba59 (MD5) Previous issue date: 2018Hospital de Clínicas de Porto Alegre. Centro de Pesquisa Experimental. Laboratório de Medicina Genômica. Porto Alegre, RS, Brasil / Universidade Federal do Rio Grande do Sul (UFRGS). Programa de Pós-Graduação em Medicina: Ciências Médicas. Porto Alegre, RS, Brasil / Universidade Federal do Rio Grande do Sul. Programa de Pós-Graduação em Genética e Biologia Molecular. Porto Alegre, RS, Brasil.Instituto Nacional de Câncer. Programa de Genética. Rio de Janeiro, RJ, Brasil.Hospital de Câncer de Barretos. Centro de Pesquisa em Oncologia Molecular. Barretos, SP, Brasil.AC Camargo Cancer Center. São Paulo, SP, Brasil. National Institutes of Health. National Cancerr Institute. Department of Health and Human Services. Division of Cancer Epidemiology and Genetics. Clinical Genetics Branch. Bethesda, Maryland, USA.Universidade Federal do Pará. Laboratório de Genética Humana e Médica. Núcleo de Pesquisa em Biociência e Ética na Ciência. Belém, PA, Brasil.Hospital de Clínicas de Porto Alegre. Centro de Pesquisa Experimental. Laboratório de Pesquisa em Bioética e Ética na Ciência. Porto Alegre., RS, Brasil.,Hospital de Clínicas de Porto Alegre. Centro de Pesquisa Experimental. Laboratório de Medicina Genômica. Porto Alegre, RS, Brasil / Universidade Federal do Rio Grande do Sul (UFRGS). Programa de Pós-Graduação em Medicina: Ciências Médicas. Porto Alegre, RS, Brasil / Universidade Federal do Rio Grande do Sul. Programa de Pós-Graduação em Genética e Biologia Molecular. Porto Alegre, RS, Brasil.Instituto Português de Oncologia do Porto. Serviço de Genética. Porto, Portugal.Hospital de Clínicas de Porto Alegre. Centro de Pesquisa Experimental. Laboratório de Medicina Genômica. Porto Alegre, RS, Brasil / Universidade Federal do Rio Grande do Sul (UFRGS). Programa de Pós-Graduação em Medicina: Ciências Médicas. Porto Alegre, RS, Brasil / Universidade Federal do Rio Grande do Sul. Programa de Pós-Graduação em Genética e Biologia Molecular. Porto Alegre, RS, Brasil.Fundação Oswaldo Cruz. Instituto Oswaldo Cruz. Rio de Janeiro, RJ. Brasil.Múltiplas afiliações - ver em NotasLynch syndrome (LS) is the most common hereditary colorectal cancer syndrome, caused by germline mutations in one of the major genes involved in mismatch repair (MMR): MLH1, MSH2, MSH6 and more rarely, PMS2. Recently, germline deletions in EPCAM have been also associated to the syndrome. Most of the pathogenic MMR mutations found in LS families occur in MLH1 or MSH2. Gene variants include missense, nonsense, frameshift mutations, large genomic rearrangements and splice-site variants and most of the studies reporting the molecular characterization of LS families have been conducted outside South America. In this study, we analyzed 60 unrelated probands diagnosed with colorectal cancer and LS criteria. Testing for germline mutations and/or rearrangements in the most commonly affected MMR genes (MLH1, MSH2, EPCAM and MSH6) was done by Sanger sequencing and MLPA. Pathogenic or likely pathogenic variants were identified in MLH1 or MSH2 in 21 probands (35.0%). Of these, approximately one-third were gene rearrangements. In addition, nine variants of uncertain significance (VUS) were identified in 10 (16.6%) of the sixty probands analyzed. Other four novel variants were identified, only in MLH1. Our results suggest that MSH6 pathogenic variants are not common among Brazilian LS probands diagnosed with CRC and that MMR gene rearrangements account for a significant proportion of the germline variants in this population underscoring the need to include rearrangement analysis in the molecular testing of Brazilian individuals with suspected Lynch syndrome

BRCA1 and BRCA2 rearrangements in Brazilian individuals with Hereditary Breast and Ovarian Cancer Syndrome

Abstract Approximately 5-10% of breast cancers are caused by germline mutations in high penetrance predisposition genes. Among these, BRCA1 and BRCA2, which are associated with the Hereditary Breast and Ovarian Cancer (HBOC) syndrome, are the most frequently affected genes. Recent studies confirm that gene rearrangements, especially in BRCA1, are responsible for a significant proportion of mutations in certain populations. In this study we determined the prevalence of BRCA rearrangements in 145 unrelated Brazilian individuals at risk for HBOC syndrome who had not been previously tested for BRCA mutations. Using Multiplex Ligation-dependent Probe Amplification (MLPA) and a specific PCR-based protocol to identify a Portuguese founder BRCA2 mutation, we identified two (1,4%) individuals with germline BRCA1 rearrangements (c.547+240_5193+178del and c.4675+467_5075-990del) and three probands with the c.156_157insAlu founder BRCA2 rearrangement. Furthermore, two families with false positive MLPA results were shown to carry a deleterious point mutation at the probe binding site. This study comprises the largest Brazilian series of HBOC families tested for BRCA1 and BRCA2 rearrangements to date and includes patients from three regions of the country. The overall observed rearrangement frequency of 3.44% indicates that rearrangements are relatively uncommon in the admixed population of Brazil

Early diagenesis and clay mineral adsorption as driving factors of metal pollution in sediments: the case of Aveiro Lagoon (Portugal)

This work aims to define the factors driving the accumulation of metals in the sediment of the lagoon of Aveiro (Portugal). The role of initial diagenetic processes in controlling trace metal retention in surface sediment is traced by mineralogy, magnetic susceptibility and geochemical analyses. Although several studies have focused on the metal distribution in this polihaline and anthropized coastal lagoon, most of them have been solely focused on the total metal concentrations. This study instead represents the first attempt to evaluate in a vast area of the Aveiro Lagoon the role of biogeochemical processes in metal availability and distribution in three extracted phases: exchangeable cations adsorbed by clay and elements co-precipitated with carbonates (S1),organic matter (S2) and amorphous Mn hydroxides (S3). According to the sediment guideline values, the sediment is polluted by, for instance, As and Hg in the inner area of theMurtosa Channel, Pb in the Espinheiro Channel, Aveiro City canals and Aveiro Harbour, and Zn in the northern area of the Ovar Channel. These sites are located near the source areas of pollutants and have the highest total available concentrations in each extracted phase. The total available concentrations of all toxic metals are however associated, firstly, with the production of amorphous Mn hydroxides in most of the areas and, secondly, with adsorption by organic compounds. The interplay of the different processes implies that not all of the sites near pollution sources have polluted surface sediment. The accumulation of metals depends on not only the pollution source but also the changing in the redox state of the sediments that may cause alterations in the sediment retention or releasing of redox-sensitive metals. Results of this work sugsuggest that the biogeochemical processes may play a significant role in the increase of the pollutants in the sediment of the Aveiro Lagoon