Cinthia Moyses | Thermo Fisher Scientific (original) (raw)
Papers by Cinthia Moyses
Molecular and Cellular Probes, 2011
Two mutations e Factor V Leiden (1691G > A) and the 20210G > A on the Prothrombin gene e are key ... more Two mutations e Factor V Leiden (1691G > A) and the 20210G > A on the Prothrombin gene e are key risk factors for a frequent and potentially fatal disorder called Venous Thromboembolism. These molecular alterations can be investigated using real-time Polymerase Chain Reaction (PCR) with Fluorescence Resonance Energy Transfer (FRET) probes and distinct DNA pools for both factors. The objective of this paper is to present an application of Taguchi Experimental Design Method to determine the best parameters adjustment of a Molecular Assays Process in order to obtain the best diagnostic result for Venous Thromboembolism investigation. The complete process contains six three-level factors which usually demands 729 experiments to obtain the final result, if using a Full Factorial Array. In this research, a Taguchi L27 Orthogonal Array is chosen to optimize the analysis and reduce the number of experiments to 27 without degrading the final result accuracy. The application of this method can lessen the time and cost necessary to achieve the best operation condition for a required performance. The results is proven in practice and confirmed that the Taguchi method can really offer a good approach for clinical assay efficiency and effectiveness improvement even though the clinical diagnostics can be based on the use of qualitative techniques.
Molecular Ecology Notes, 2005
Ten microsatellite loci were isolated from a species of the Neotropical electric eel, Eigenmannia... more Ten microsatellite loci were isolated from a species of the Neotropical electric eel, Eigenmannia , a genus of freshwater fish characterized by small populations and low vagility. Nine microsatellites were polymorphic, the number of alleles ranging from seven to 27, and values of observed heterozygosity ranging from 0.327 to 0.741. These loci were developed for population genetic studies of Eigenmannia sp. 2, however, cross-amplification carried out with other species of this genus as well as other Gymnotiformes genera indicate that these molecular markers are also potentially useful for population-level studies in closely related species.
Genetics and Molecular Biology, 2002
Restriction fragment length polymorphism (RFLP) analysis of mitochondrial DNA (mtDNA) was employe... more Restriction fragment length polymorphism (RFLP) analysis of mitochondrial DNA (mtDNA) was employed to characterize species and populations of Astyanax, a Neotropical freshwater fish genus. Samples of five species, A. altiparanae, A. fasciatus, A. lacustris, A. scabripinnis paranae and A. schubarti, from the Upper Paraná and São Francisco river basins were analyzed. Two out of the ten restriction enzymes employed generated
Design of Experiments - Applications, 2013
Molecular and Cellular Probes, 2011
Two mutations e Factor V Leiden (1691G > A) and the 20210G > A on the Prothrombin gene e are key ... more Two mutations e Factor V Leiden (1691G > A) and the 20210G > A on the Prothrombin gene e are key risk factors for a frequent and potentially fatal disorder called Venous Thromboembolism. These molecular alterations can be investigated using real-time Polymerase Chain Reaction (PCR) with Fluorescence Resonance Energy Transfer (FRET) probes and distinct DNA pools for both factors. The objective of this paper is to present an application of Taguchi Experimental Design Method to determine the best parameters adjustment of a Molecular Assays Process in order to obtain the best diagnostic result for Venous Thromboembolism investigation. The complete process contains six three-level factors which usually demands 729 experiments to obtain the final result, if using a Full Factorial Array. In this research, a Taguchi L27 Orthogonal Array is chosen to optimize the analysis and reduce the number of experiments to 27 without degrading the final result accuracy. The application of this method can lessen the time and cost necessary to achieve the best operation condition for a required performance. The results is proven in practice and confirmed that the Taguchi method can really offer a good approach for clinical assay efficiency and effectiveness improvement even though the clinical diagnostics can be based on the use of qualitative techniques.
The Journal of Clinical Endocrinology & Metabolism, 2007
Acromegaly is usually sporadic, but familial cases occur in association with several familial pit... more Acromegaly is usually sporadic, but familial cases occur in association with several familial pituitary tumor syndromes. Recently mutations in the aryl hydrocarbon receptor interacting protein (AIP) gene were associated with familial pituitary adenoma predisposition. The objective of the study was to investigate the status of AIP in a pituitary tumor predisposition family. The study was conducted at a nonprofit academic center and medical centers. Eighteen members of a Brazilian family with acromegaly were studied. A novel germline mutation in the AIP gene, Y268X, predicted to generate a protein lacking two conserved domains, was identified in four members of this family: two siblings with early-onset acromegaly; a third, 41-yr-old sibling with a microadenoma but no clinical features of disease, and his 3-yr-old son. No changes were found in 14 unaffected at-risk relatives or 92 healthy controls. We confirm the role of the AIP gene in familial acromegaly. This finding increases the spectrum of molecular defects that can give rise to pituitary adenoma susceptibility. Establishment of genotype-phenotype correlations in AIP mutant tumors will determine whether AIP screening can be used as a tool for clinical surveillance and genetic counseling of families with pituitary tumor predisposition. The underlying basis for the phenotypic variation within AIP-mutant families and the mechanism of AIP-mediated tumorigenesis remain to be defined.
Heredity, 2011
The genus Eigenmannia comprises several species groups that display a surprising variety of diplo... more The genus Eigenmannia comprises several species groups that display a surprising variety of diploid chromosome numbers and sex-determining systems. In this study, hypotheses regarding phylogenetic relationships and karyotype evolution were investigated using a combination of molecular and cytogenetic methods. Phylogenetic relationships were analyzed for 11 cytotypes based on sequences from five mitochondrial DNA regions. Parsimony-based character mapping of sex chromosomes confirms previous suggestions of multiple origins of sex chromosomes. Molecular cytogenetic analyses involved chromosome painting using probes derived from whole sex chromosomes from two taxa that were hybridized to metaphases of their respective sister cytotypes. These analyses showed that a multiple XY system evolved recently (o7 mya) by fusion. Furthermore, one of the chromosomes that fused to form the neo-Y chromosome is fused independently to another chromosome in the sister cytotype. This may constitute an efficient post-mating barrier and might imply a direct function of sex chromosomes in the speciation processes in Eigenmannia. The other chromosomal sexdetermination system investigated is shown to have differentiated by an accumulation of heterochromatin on the X chromosome. This has occurred in the past 0.6 my, and is the most recent chromosomal sex-determining system described to date. These results show that the evolution of sexdetermining systems can proceed very rapidly.
Genetica, 2010
The genus Eigenmannia (Teleostei: Gymnotiformes), a widely distributed fish genus from the Neotro... more The genus Eigenmannia (Teleostei: Gymnotiformes), a widely distributed fish genus from the Neotropical region, presents very complex morphological patterns and many taxonomic problems. It is suggested that this genus harbors a species complex that is hard to differentiate using only morphological characteristics. As a result, many species of Eigenmannia may be currently gathered under a common name. With the objective of providing new tools for species characterization in this group, an analysis of the polymorphism of DNA inter-simple sequence repeats (ISSR), obtained by single primer amplification reaction (SPAR), combined with karyotype identification, was carried out in specimens sampled from populations of the Upper Paraná, São Francisco and Amazon river basins (Brazil). Specific ISSR patterns generated by primers (AAGC)(4) and (GGAC)(4) were found to characterize the ten cytotypes analyzed, even though the cytotypes 2n = 38 and 2n = 38 XX:XY, from the Upper Paraná basin, share some ISSR amplification patterns. The geographical distribution of all Eigenmannia specimens sampled was inferred, showing the cytotype 2n = 31/2n = 32 as the most frequent and largely distributed in the Upper Paraná basin. The cytotype 2n = 34 was reported for the first time in the genus Eigenmania, restricted to the São Francisco basin. Polymorphic ISSR patterns were also detected for each cytotype. Considering our results and the data reported previously in the literature, it is suggested that many of the forms of Eigenmannia herein analyzed might be regarded as different species. This work reinforces the importance of employing diverse approaches, such as molecular and cytogenetic characterization, to address taxonomic and evolutionary issues.
Diabetologia, 1997
Amylin is a 37-amino acid polypeptide co-secreted with insulin by pancreatic beta cells, in respo... more Amylin is a 37-amino acid polypeptide co-secreted with insulin by pancreatic beta cells, in response to nutrient stimuli. It circulates at concentrations of 5-30 pmol/l in normal subjects. The peptide pramlintide is a stable tri-substituted non-aggregating analogue of amylin [1] which in animal studies has biological activities similar to endogenous amylin. Doses of pramlintide resulting in plasma concentrations equivalent to physiological plasma amylin levels can attenuate the postprandial glucose excursion in patients with insulin-dependent diabetes mellitus (IDDM) . Possible mechanisms are delay in gastric emptying, reduction in glucose transport across the intestinal wall, intestinal vasoconstriction, or a combination of these or other factors. In animal studies amylin reduces the plasma glucose rise following an oral glucose load by slowing gastric emptying .
Cytogenetic and Genome Research, 2002
New data are presented on the sex chromosomes of the fish species Eigenmannia virescens (Gymnotif... more New data are presented on the sex chromosomes of the fish species Eigenmannia virescens (Gymnotiformes, Sternopygidae). A new finding, involving the occurrence of ZZ/ZW sex chromosomes, is described in specimens sampled from the São Francisco and Amazon river basins in Brazil. All individuals had a chromosome number of 2n = 38. The homologs of the sex chromosome pair from the São Francisco river basin sample differed only in their morphology, while those from the Amazonian sample differed both in morphology and heterochromatin pattern. A possible model for the evolution of the sex chromosomes in E. virescens is proposed, including data from populations from the Paraná (Brazil) river basin, in which male heterogamety has already been described. The occurrence of different sex chromosome systems in species and populations of the neotropical freshwater fish fauna is discussed.
Brazilian Journal of Medical and Biological Research, 2008
Molecular and Cellular Probes, 2011
Two mutations e Factor V Leiden (1691G > A) and the 20210G > A on the Prothrombin gene e are key ... more Two mutations e Factor V Leiden (1691G > A) and the 20210G > A on the Prothrombin gene e are key risk factors for a frequent and potentially fatal disorder called Venous Thromboembolism. These molecular alterations can be investigated using real-time Polymerase Chain Reaction (PCR) with Fluorescence Resonance Energy Transfer (FRET) probes and distinct DNA pools for both factors. The objective of this paper is to present an application of Taguchi Experimental Design Method to determine the best parameters adjustment of a Molecular Assays Process in order to obtain the best diagnostic result for Venous Thromboembolism investigation. The complete process contains six three-level factors which usually demands 729 experiments to obtain the final result, if using a Full Factorial Array. In this research, a Taguchi L27 Orthogonal Array is chosen to optimize the analysis and reduce the number of experiments to 27 without degrading the final result accuracy. The application of this method can lessen the time and cost necessary to achieve the best operation condition for a required performance. The results is proven in practice and confirmed that the Taguchi method can really offer a good approach for clinical assay efficiency and effectiveness improvement even though the clinical diagnostics can be based on the use of qualitative techniques.
Molecular Ecology Notes, 2005
Ten microsatellite loci were isolated from a species of the Neotropical electric eel, Eigenmannia... more Ten microsatellite loci were isolated from a species of the Neotropical electric eel, Eigenmannia , a genus of freshwater fish characterized by small populations and low vagility. Nine microsatellites were polymorphic, the number of alleles ranging from seven to 27, and values of observed heterozygosity ranging from 0.327 to 0.741. These loci were developed for population genetic studies of Eigenmannia sp. 2, however, cross-amplification carried out with other species of this genus as well as other Gymnotiformes genera indicate that these molecular markers are also potentially useful for population-level studies in closely related species.
Genetics and Molecular Biology, 2002
Restriction fragment length polymorphism (RFLP) analysis of mitochondrial DNA (mtDNA) was employe... more Restriction fragment length polymorphism (RFLP) analysis of mitochondrial DNA (mtDNA) was employed to characterize species and populations of Astyanax, a Neotropical freshwater fish genus. Samples of five species, A. altiparanae, A. fasciatus, A. lacustris, A. scabripinnis paranae and A. schubarti, from the Upper Paraná and São Francisco river basins were analyzed. Two out of the ten restriction enzymes employed generated
Design of Experiments - Applications, 2013
Molecular and Cellular Probes, 2011
Two mutations e Factor V Leiden (1691G > A) and the 20210G > A on the Prothrombin gene e are key ... more Two mutations e Factor V Leiden (1691G > A) and the 20210G > A on the Prothrombin gene e are key risk factors for a frequent and potentially fatal disorder called Venous Thromboembolism. These molecular alterations can be investigated using real-time Polymerase Chain Reaction (PCR) with Fluorescence Resonance Energy Transfer (FRET) probes and distinct DNA pools for both factors. The objective of this paper is to present an application of Taguchi Experimental Design Method to determine the best parameters adjustment of a Molecular Assays Process in order to obtain the best diagnostic result for Venous Thromboembolism investigation. The complete process contains six three-level factors which usually demands 729 experiments to obtain the final result, if using a Full Factorial Array. In this research, a Taguchi L27 Orthogonal Array is chosen to optimize the analysis and reduce the number of experiments to 27 without degrading the final result accuracy. The application of this method can lessen the time and cost necessary to achieve the best operation condition for a required performance. The results is proven in practice and confirmed that the Taguchi method can really offer a good approach for clinical assay efficiency and effectiveness improvement even though the clinical diagnostics can be based on the use of qualitative techniques.
The Journal of Clinical Endocrinology & Metabolism, 2007
Acromegaly is usually sporadic, but familial cases occur in association with several familial pit... more Acromegaly is usually sporadic, but familial cases occur in association with several familial pituitary tumor syndromes. Recently mutations in the aryl hydrocarbon receptor interacting protein (AIP) gene were associated with familial pituitary adenoma predisposition. The objective of the study was to investigate the status of AIP in a pituitary tumor predisposition family. The study was conducted at a nonprofit academic center and medical centers. Eighteen members of a Brazilian family with acromegaly were studied. A novel germline mutation in the AIP gene, Y268X, predicted to generate a protein lacking two conserved domains, was identified in four members of this family: two siblings with early-onset acromegaly; a third, 41-yr-old sibling with a microadenoma but no clinical features of disease, and his 3-yr-old son. No changes were found in 14 unaffected at-risk relatives or 92 healthy controls. We confirm the role of the AIP gene in familial acromegaly. This finding increases the spectrum of molecular defects that can give rise to pituitary adenoma susceptibility. Establishment of genotype-phenotype correlations in AIP mutant tumors will determine whether AIP screening can be used as a tool for clinical surveillance and genetic counseling of families with pituitary tumor predisposition. The underlying basis for the phenotypic variation within AIP-mutant families and the mechanism of AIP-mediated tumorigenesis remain to be defined.
Heredity, 2011
The genus Eigenmannia comprises several species groups that display a surprising variety of diplo... more The genus Eigenmannia comprises several species groups that display a surprising variety of diploid chromosome numbers and sex-determining systems. In this study, hypotheses regarding phylogenetic relationships and karyotype evolution were investigated using a combination of molecular and cytogenetic methods. Phylogenetic relationships were analyzed for 11 cytotypes based on sequences from five mitochondrial DNA regions. Parsimony-based character mapping of sex chromosomes confirms previous suggestions of multiple origins of sex chromosomes. Molecular cytogenetic analyses involved chromosome painting using probes derived from whole sex chromosomes from two taxa that were hybridized to metaphases of their respective sister cytotypes. These analyses showed that a multiple XY system evolved recently (o7 mya) by fusion. Furthermore, one of the chromosomes that fused to form the neo-Y chromosome is fused independently to another chromosome in the sister cytotype. This may constitute an efficient post-mating barrier and might imply a direct function of sex chromosomes in the speciation processes in Eigenmannia. The other chromosomal sexdetermination system investigated is shown to have differentiated by an accumulation of heterochromatin on the X chromosome. This has occurred in the past 0.6 my, and is the most recent chromosomal sex-determining system described to date. These results show that the evolution of sexdetermining systems can proceed very rapidly.
Genetica, 2010
The genus Eigenmannia (Teleostei: Gymnotiformes), a widely distributed fish genus from the Neotro... more The genus Eigenmannia (Teleostei: Gymnotiformes), a widely distributed fish genus from the Neotropical region, presents very complex morphological patterns and many taxonomic problems. It is suggested that this genus harbors a species complex that is hard to differentiate using only morphological characteristics. As a result, many species of Eigenmannia may be currently gathered under a common name. With the objective of providing new tools for species characterization in this group, an analysis of the polymorphism of DNA inter-simple sequence repeats (ISSR), obtained by single primer amplification reaction (SPAR), combined with karyotype identification, was carried out in specimens sampled from populations of the Upper Paraná, São Francisco and Amazon river basins (Brazil). Specific ISSR patterns generated by primers (AAGC)(4) and (GGAC)(4) were found to characterize the ten cytotypes analyzed, even though the cytotypes 2n = 38 and 2n = 38 XX:XY, from the Upper Paraná basin, share some ISSR amplification patterns. The geographical distribution of all Eigenmannia specimens sampled was inferred, showing the cytotype 2n = 31/2n = 32 as the most frequent and largely distributed in the Upper Paraná basin. The cytotype 2n = 34 was reported for the first time in the genus Eigenmania, restricted to the São Francisco basin. Polymorphic ISSR patterns were also detected for each cytotype. Considering our results and the data reported previously in the literature, it is suggested that many of the forms of Eigenmannia herein analyzed might be regarded as different species. This work reinforces the importance of employing diverse approaches, such as molecular and cytogenetic characterization, to address taxonomic and evolutionary issues.
Diabetologia, 1997
Amylin is a 37-amino acid polypeptide co-secreted with insulin by pancreatic beta cells, in respo... more Amylin is a 37-amino acid polypeptide co-secreted with insulin by pancreatic beta cells, in response to nutrient stimuli. It circulates at concentrations of 5-30 pmol/l in normal subjects. The peptide pramlintide is a stable tri-substituted non-aggregating analogue of amylin [1] which in animal studies has biological activities similar to endogenous amylin. Doses of pramlintide resulting in plasma concentrations equivalent to physiological plasma amylin levels can attenuate the postprandial glucose excursion in patients with insulin-dependent diabetes mellitus (IDDM) . Possible mechanisms are delay in gastric emptying, reduction in glucose transport across the intestinal wall, intestinal vasoconstriction, or a combination of these or other factors. In animal studies amylin reduces the plasma glucose rise following an oral glucose load by slowing gastric emptying .
Cytogenetic and Genome Research, 2002
New data are presented on the sex chromosomes of the fish species Eigenmannia virescens (Gymnotif... more New data are presented on the sex chromosomes of the fish species Eigenmannia virescens (Gymnotiformes, Sternopygidae). A new finding, involving the occurrence of ZZ/ZW sex chromosomes, is described in specimens sampled from the São Francisco and Amazon river basins in Brazil. All individuals had a chromosome number of 2n = 38. The homologs of the sex chromosome pair from the São Francisco river basin sample differed only in their morphology, while those from the Amazonian sample differed both in morphology and heterochromatin pattern. A possible model for the evolution of the sex chromosomes in E. virescens is proposed, including data from populations from the Paraná (Brazil) river basin, in which male heterogamety has already been described. The occurrence of different sex chromosome systems in species and populations of the neotropical freshwater fish fauna is discussed.
Brazilian Journal of Medical and Biological Research, 2008