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1
artículo
Publicado 2023
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Among women, breast cancer is the most common cancer in the world, accounting for 25.7 % of all cancers and thus making it a topic of interest in public health. Breast cancer is a complex, heterogeneous genetic disease and, in the vast majority of cases, of unknown etiology. Around 7 % of breast cancer cases in the general population present a susceptibility gene mutation of Mendelian inheritance. The ataxia telangiectasia mutated (ATM) gene mutation is found inless than 1 % of the general population, and association studies conducted with controls have shown that these alleles are characterized by a moderate risk (RR: 2 ‐ 4) for hereditary cancer. Mutations in ATM incompletely cosegregate the disease, with an estimated 15 % of mutation carriers in this gene developing cancer. The incomplete penetrance of ATM, as wellas other moderate‐risk genes, supports that they follow a polygenic...
2
artículo
Publicado 2000
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X-linked forms of retinitis pigmentosa (XLRP) are among the most severe because of their early onset, often leading to significant visual impairment before the fourth decade. RP3, genetically localized at Xp21.1, accounts for 70% of XLRP in different populations. The RPGR (Retinitis Pigmentosa GTPase Regulator) gene that was isolated from the RP3 region is mutated in 20% of North American families with XLRP. From mutation analysis of 27 independent XLRP families, we have identified five novel RPGR mutations in 5 of the families (160delA, 789 A>T, IVS8+1 G>C, 1147insT and 1366 G>A). One of these mutations was detected in a family from Chile.
3
artículo
Publicado 2020
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This essay examines the concept and limits of the constitutional mutation and how they affect constitutional texts. The mutation has some specials characteristics, different to the adaption. It is used to study the interpretive process of constitutional norms. It is because the mutation responds to the context. The Spanish Constitution of 1978 is a limited text, but the Court’s constitutional interpretation has recreated his significance. It happened for example in its decision on the «territorial constitution» regarding to the Spanish autonomous government. Another example, its decision on the fiscal stability: it is a new constitutional standard created through the interpretive work of the «Tribunal Constitucional». Now, fiscal stability is a new assumption of the economic crisis and it is a new constitutional component of the constitutional interpretation.
4
artículo
Publicado 2020
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This essay examines the concept and limits of the constitutional mutation and how they affect constitutional texts. The mutation has some specials characteristics, different to the adaption. It is used to study the interpretive process of constitutional norms. It is because the mutation responds to the context. The Spanish Constitution of 1978 is a limited text, but the Court’s constitutional interpretation has recreated his significance. It happened for example in its decision on the «territorial constitution» regarding to the Spanish autonomous government. Another example, its decision on the fiscal stability: it is a new constitutional standard created through the interpretive work of the «Tribunal Constitucional». Now, fiscal stability is a new assumption of the economic crisis and it is a new constitutional component of the constitutional interpretation.
5
artículo
Publicado 2016
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The aim of this paper is to analyze the effects that recent health reforms adopted in Spain because of the economic crisis have had on the National Health System. It is not only a matter of mere budgetary cuts or measures of saving in the public expense. Reforms are looking for the efficiency and financial sustainability of health care services. However, a «mutation» in the public service has taken place. Reforms have affected the basic principles of the public system: the insurance model, its universality, the financing of the system and the principles of equity and cohesion of the public service.
6
artículo
The emergence of the avant-garde ended up affecting the categories that until then had served to satisfactorily interpret a multiplicity of phenomena that resulted in unstable and chaotic fluctuations, and determined qualitative changes in the so- cio-cultural structures of the planet, transformations that will have quantitative repercussions in the arts and historical culture. In this context, the idea that post- modernity succeeds modernity is somewhat complicated, due to the resistance of a certain intellectual sector in terms of validation and invalidation of the concept. Nevertheless, the factuality of elements that refer to a new symbolic-practical or- der, which in the arts associated with ICT gave rise to interactive “avant-gardes”, deojectualized and delocalized in a neo- or post-avant-garde spectrum, in which the electronic and biotec edial art, ended up assuming a partial ...
7
artículo
The emergence of the avant-garde ended up affecting the categories that until then had served to satisfactorily interpret a multiplicity of phenomena that resulted in unstable and chaotic fluctuations, and determined qualitative changes in the so- cio-cultural structures of the planet, transformations that will have quantitative repercussions in the arts and historical culture. In this context, the idea that post- modernity succeeds modernity is somewhat complicated, due to the resistance of a certain intellectual sector in terms of validation and invalidation of the concept. Nevertheless, the factuality of elements that refer to a new symbolic-practical or- der, which in the arts associated with ICT gave rise to interactive “avant-gardes”, deojectualized and delocalized in a neo- or post-avant-garde spectrum, in which the electronic and biotec edial art, ended up assuming a partial ...
8
artículo
Publicado 2021
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Background: To identify additional at-risk groups for lung cancer screening, which targets persons with a long history of smoking and thereby misses younger or nonsmoking cases, the authors evaluated germline pathogenic variants (PVs) in patients with lung adenocarcinoma for an association with an accelerated onset. Methods: The authors assembled a retrospective cohort (1999-2018) of oncogenetic clinic patients with lung adenocarcinoma. Eligibility required a family history of cancer, data on smoking, and a germline biospecimen to screen via a multigene panel. Germline PVs (TP53/EGFR, BRCA2, other Fanconi anemia [FA] pathway genes, and non-FA DNA repair genes) were interrogated for associations with the age at diagnosis via an accelerated failure time model. Results: Subjects (n = 187; age, 28-89 years; female, 72.7%; Hispanic, 11.8%) included smokers (minimum of 5 pack-years; n = 65) an...
9
artículo
In the effervescent Andean space, the iconography seems very persistent; human beings are born and die, but the gods remain. There is some truth in this statement. However, they also highlight modifications in representations of the divinity. These mutations are combined with changes in the Andean way of being and self-understanding; These are changes that occur along with the clash between the Andean world and invading cultures. In the following pages we do not concern ourselves with the exchange between the Andean population, Quechua and Aymara and Mestizo, with their maternal divinity. It is an exchange between humans and a divine presence, a give-receive exchange that shows new directions in the ancient Andean identity.
10
artículo
Publicado 2016
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The aim of this paper is to analyze the effects that recent health reforms adopted in Spain because of the economic crisis have had on the National Health System. It is not only a matter of mere budgetary cuts or measures of saving in the public expense. Reforms are looking for the efficiency and financial sustainability of health care services. However, a «mutation» in the public service has taken place. Reforms have affected the basic principles of the public system: the insurance model, its universality, the financing of the system and the principles of equity and cohesion of the public service.
11
tesis de grado
Publicado 2020
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Background: Rifampicin (RIF) resistance in Mycobacterium tuberculosis is frequently caused by mutations in the rpoB gene. These mutations are associated with a fitness cost, which can be overcome by compensatory mutations in other genes, among which rpoC may be the most important. Aims and objectives: We analyzed 469 Peruvian M. tuberculosis clinical isolates to identify compensatory mutations in rpoC/rpoA associated with RIF resistance. Materials and methods: The M. tuberculosis isolates were collected and tested for RIF susceptibility and spoligotyping. Samples were sequenced and aligned to the reference genome to identify mutations. By analyzing the sequences and the metadata, we identified a list of rpoC mutations exclusively associated with RIF resistance and mutations in rpoB. We then evaluated the distribution of these mutations along the protein sequence and tridimensional struct...
12
artículo
BACKGROUND Osimertinib is a third-generation epidermal growth factor receptor-tyrosine kinase inhibitor (EGFR-TKI) that is selective for EGFR-TKI-sensitizing and EGFR T790M resistance mutations. Evidence suggests that the addition of chemotherapy may extend the benefits of EGFR-TKI therapy. METHODS In this phase 3, international, open-label trial, we randomly assigned in a 1:1 ratio patients with EGFR-mutated (exon 19 deletion or L858R mutation) advanced non- small-cell lung cancer (NSCLC) who had not previously received treatment for advanced disease to receive osimertinib (80 mg once daily) with chemotherapy (pemetrexed [500 mg per square meter of body-surface area] plus either cisplatin [75 mg per square meter] or carboplatin [pharmacologically guided dose]) or to receive osimertinib monotherapy (80 mg once daily). The primary end point was investigator- assessed progression-free surv...
13
artículo
Background: Triple-negative breast cancer (TNBC) is a heterogeneous disease with aggressive biology and complex tumor evolution. Our purpose was to identify enrichment patterns of genomic alterations in metastatic triple-negative breast cancer (mTNBC). Methods: Genomic data were retrieved (mutations and copy number variations) from 550 primary TNBC tumors from the Molecular Tax- onomy of Breast Cancer International Consortium (METABRIC) and The Cancer Genome Atlas (TCGA) data sets and 58 mTNBC tumors from “Mutational Profile of Metastatic Breast Cancers” and “The Metastatic Breast Cancer Project.” Statistical analysis of microarray data between primary and metastatic tumors was performed using a chi-square test, and the percentage of mutation enrichment in mTNBC cases was estimated. P-values were adjusted for multiple testing with Benjamini-Hochberg method with a false-discovery ...
14
artículo
Publicado 2018
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The present paper seeks to give, in the first place, a brief historical review of the origin and development of contentious administrative process, his location on Peruvian law frame and his function. Also, it gives a critical analysis to show if this process is serving the purpose given, that is protecting the rights and interests of the governed.
15
artículo
Considerando la falta de datos genómicos de pacientes hispanos/latinos con cáncer de pulmón, se estableció el Registro Latino de Cáncer de Pulmón, con el fin de recolectar muestras biológicas y datos de pacientes hispanos/latinos. Las mutaciones conductoras en pacientes hispanos/latinos con adenocarcinoma de pulmón difieren en frecuencia de aquellos en pacientes blancos no hispanos asociados con sus ancestros indígenas americanos. El espectro de mutaciones conductoras necesita evaluaciones complementarias en la población hispana/latina.
16
artículo
Publicado 2019
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The task of elaborating accurate test suites for program testing can be an extensive computational work. Mutation testing is not immune to the problem of being a computational and time-consuming task so that it has found relief in the use of heuristic techniques. The use of Genetic Algorithms in mutation testing has proved to be useful for probing test suites, but it has mainly been enclosed only in the field of imperative programming paradigms. Therefore, we decided to test the feasibility of using Genetic Algorithms for performing mutation testing in functional programming environments. We tested our proposal by making a graph representations of four different functional programs and applied a Genetic Algorithm to generate a population of mutant programs. We found that it is possible to obtain a set of mutants that could find flaws in test suites in functional programming languages. Ad...
17
artículo
The liberal State emphasized that the right to property grants the attributes of using, enjoying, and disposing of an asset. However, beginning in 1911, Léon Duguit introduced the concept of the social function of property, asserting that the owner must not only seek personal satisfaction but also contribute to the well-being of the collective. Since its introduction, the social function of property has been incorporated into the constitutions of various states. However, the Peruvian constituent assembly of 1993 deliberately departed from this approach, and thus, Article 70 of our Constitution merely states that property shall be exercised in harmony with the common good—a provision that remains unchanged to this day. Consequently, the first objective of this research is to analyze the validity of the social function of property as a universal legal category within constitutional law....
18
artículo
Publicado 2018
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The present paper seeks to give, in the first place, a brief historical review of the origin and development of contentious administrative process, his location on Peruvian law frame and his function. Also, it gives a critical analysis to show if this process is serving the purpose given, that is protecting the rights and interests of the governed.
19
artículo
The liberal State emphasized that the right to property grants the attributes of using, enjoying, and disposing of an asset. However, beginning in 1911, Léon Duguit introduced the concept of the social function of property, asserting that the owner must not only seek personal satisfaction but also contribute to the well-being of the collective. Since its introduction, the social function of property has been incorporated into the constitutions of various states. However, the Peruvian constituent assembly of 1993 deliberately departed from this approach, and thus, Article 70 of our Constitution merely states that property shall be exercised in harmony with the common good—a provision that remains unchanged to this day. Consequently, the first objective of this research is to analyze the validity of the social function of property as a universal legal category within constitutional law....
20
artículo
Publicado 2021
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Background: The genetic variability of SARS-CoV-2 has increased notably since the pandemic was declared, which has allowed it to represent a continuous challenge for health policies aimed at its control. Objective. Describe the genomic nomenclature used for general and scientific communication about SARS-CoV-2, as well as describe the mutations, evolution, origin and variants of the virus. Material and Methods. A narrative literature review was carried out, for which a search and analysis of the information was carried out until December 15, 2021. 74 sources selected from the MEDLINE / PubMed, SciELO, LILACS databases and official web pages were reviewed; no language restrictions. Results. Mutations are changes in the nucleotide sequence of the viral genome, which, by affecting the epidemiological dynamics in a population, give rise to variants, and these in turn to differentiated clades...
