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1.
Rev Esp Enferm Dig ; 115(6): 301-305, 2023 06.
Artigo em Inglês | MEDLINE | ID: mdl-36353964

RESUMO

BACKGROUND: Cystic Fibrosis Liver Disease is a poorly understood entity, especially in adults, in terms of its real prevalence, natural history and diagnostic criteria, despite being the most important extrapulmonary cause of mortality. The aim was to evaluate the prevalence, characteristics and potential risk factors of liver disease in adults with cystic fibrosis, according to two diagnostic criteria accepted in the scientific literature. METHODS: Patients were recruited in a tertiary referral hospital, and laboratory, ultrasound, non-invasive liver fibrosis tests (AST to Platelet Ratio Index; Fibrosis-4 Index) and transient elastography (Fibroscan) were performed. The proportion of patients with liver disease according to the Debray and Koh criteria were evaluated. RESULTS: 95 patients were included, 48 (50.5%) females, with a mean age of 30.4 (28.6-32.2) years. According to the Debray criteria, 6 (6.3%) patients presented liver disease. According to the Koh criteria, prevalence increased up to 8.4%, being statistically different from the 25% value described in other published series (p = 0.005). Seven (7.5%) presented ultrasonographic chronic liver disease. Eleven (13%) presented liver fibrosis according to the APRI score; 95 (100%) had a normal FIB-4 value. Mean liver stiffness value was 4.4 (4.1-4.7) kPa. FEV1 (OR=0.16, p 0.05), meconium ileus (OR=14.16, p 0.002), platelets (Pearson coefficient -0.25, p 0.05) and younger age (Pearson coefficient -0.19, p 0.05) were risk factors. CONCLUSIONS: Prevalence and severity of liver disease in adult cystic fibrosis patients were lower than expected. Meconium ileus, platelets, age and respiratory function were confirmed as risk factors associated to cystic fibrosis liver disease.


Assuntos
Fibrose Cística , Técnicas de Imagem por Elasticidade , Hepatopatias , Íleo Meconial , Feminino , Humanos , Adulto , Masculino , Centros de Atenção Terciária , Fibrose Cística/complicações , Fibrose Cística/diagnóstico por imagem , Íleo Meconial/complicações , Cirrose Hepática/diagnóstico por imagem , Cirrose Hepática/epidemiologia , Cirrose Hepática/complicações , Hepatopatias/diagnóstico por imagem , Hepatopatias/epidemiologia , Hepatopatias/etiologia , Técnicas de Imagem por Elasticidade/métodos , Fígado/patologia , Aspartato Aminotransferases
2.
Plant Foods Hum Nutr ; 76(2): 248-253, 2021 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-34137012

RESUMO

Among components of the consumer's perception of tomato fruit quality, texture is one of the most critical, being formed of a number of attributes that are difficult to evaluate and which change during fruit ripening and storage. The present work relates different textural parameters measured in a collection of traditional tomatoes from Madrid with the appreciation collected from consumer opinions. Texture traits were highly variable in studied tomatoes; they had strong environmental influence and they differed among genotypes. Great intrapopulational variability has been also detected, probably due to the heterogeneity of its fruit tissues and the intrapopulational diversity of studied landraces. Textural behavior of tomatoes affected the level of consumer appreciation. In general, consumers preferred firm fruits with soft skin, due to their low level of springiness and resilience. However, different taster groups have demonstrate how diversity appears to be necessary to satisfy different types of consumers. Among the three groups of consumers which have been identified in this study, the majority (83% of them) preferred local tomato varieties. In addition, heirloom tomatoes presented softer skins than the commercial hybrid reference (values of 0.29 ± 0.19 vs. 0.49 ± 0.12 kg regarding skin rupture force). That circumstance, which is involved in the post-harvest behavior, must be further considered in storage and commercialization.


Assuntos
Solanum lycopersicum , Comportamento do Consumidor , Frutas , Genótipo , Solanum lycopersicum/genética
4.
Theor Appl Genet ; 126(5): 1285-303, 2013 May.
Artigo em Inglês | MEDLINE | ID: mdl-23381808

RESUMO

Novel sequencing technologies were recently used to generate sequences from multiple melon (Cucumis melo L.) genotypes, enabling the in silico identification of large single nucleotide polymorphism (SNP) collections. In order to optimize the use of these markers, SNP validation and large-scale genotyping are necessary. In this paper, we present the first validated design for a genotyping array with 768 SNPs that are evenly distributed throughout the melon genome. This customized Illumina GoldenGate assay was used to genotype a collection of 74 accessions, representing most of the botanical groups of the species. Of the assayed loci, 91 % were successfully genotyped. The array provided a large number of polymorphic SNPs within and across accessions. This set of SNPs detected high levels of variation in accessions from this crop's center of origin as well as from several other areas of melon diversification. Allele distribution throughout the genome revealed regions that distinguished between the two main groups of cultivated accessions (inodorus and cantalupensis). Population structure analysis showed a subdivision into five subpopulations, reflecting the history of the crop. A considerably low level of LD was detected, which decayed rapidly within a few kilobases. Our results show that the GoldenGate assay can be used successfully for high-throughput SNP genotyping in melon. Since many of the genotyped accessions are currently being used as the parents of breeding populations in various programs, this set of mapped markers could be used for future mapping and breeding efforts.


Assuntos
Cucurbitaceae/genética , Genes de Plantas/genética , Variação Genética/genética , Genética Populacional , Polimorfismo de Nucleotídeo Único/genética , Análise do Polimorfismo de Comprimento de Fragmentos Amplificados , Mapeamento Cromossômico , DNA de Plantas/genética , Genoma de Planta , Genótipo , Desequilíbrio de Ligação
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