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1.
Mol Genet Genomics ; 299(1): 49, 2024 May 04.
Artigo em Inglês | MEDLINE | ID: mdl-38704518

RESUMO

The main objective of this study was to determine whether the common Y-haplogroups were be associated with the risk of developing severe COVID-19 in Spanish male. We studied 479 patients who required hospitalization due to COVID-19 and 285 population controls from the region of Asturias (northern Spain), They were genotyped for several polymorphisms that define the common European Y-haplogroups. We compared the frequencies between patients and controls aged ≤ 65 and >65 years. There were no different haplogroup frequencies between the two age groups of controls. Haplogroup R1b was less common in patients aged ≤65 years. Haplogroup I was more common in the two patient´s groups compared to controls (p = 0.02). Haplogroup R1b was significantly more frequent among hypertensive patients, without difference between the hypertensive and normotensive controls. This suggested that R1b could increase the risk for severe COVID-19 among male with pre-existing hypertension. In conclusion, we described the Y-haplogroup structure among Asturians. We found an increased risk of severe COVID-19 among haplogroup I carriers, and a significantly higher frequency of R1b among hypertensive patients. These results indicate that Y-chromosome variants could serve as markers to define the risk of developing a severe form of COVID-19.


Assuntos
COVID-19 , Cromossomos Humanos Y , Haplótipos , Hipertensão , SARS-CoV-2 , Humanos , Masculino , COVID-19/genética , COVID-19/epidemiologia , Espanha/epidemiologia , Haplótipos/genética , Idoso , Pessoa de Meia-Idade , SARS-CoV-2/genética , Cromossomos Humanos Y/genética , Hipertensão/genética , Predisposição Genética para Doença , Estudos de Casos e Controles , Polimorfismo de Nucleotídeo Único , Adulto , Feminino
3.
Int J Mol Sci ; 24(19)2023 Sep 30.
Artigo em Inglês | MEDLINE | ID: mdl-37834254

RESUMO

The melanoma differentiation-associated protein 5 (MDA5; encoded by the IFIH1 gene) mediates the activation of the interferon pathway in response to a viral infection. This protein is also upregulated in autoimmune diseases and psoriasis skin lesions. IFIH1 gene variants that increase MDA5 activity have been associated with an increased risk for immune-mediated diseases, including psoriasis. Our aim is to determine the association between three IFIH1 variants (rs35337543 G/C, intron8 + 1; rs35744605 C/A, Glu627Stop; and rs1990760 C/T, Ala946Thr) and the main clinical findings in a cohort of Spanish patients with psoriasis (N = 572; 77% early-onset). Early-onset psoriasis patients (EOPs) had a significantly higher frequency of severe disease and the Cw6*0602 allele. Carriers of rs1990760 T (946Thr) were more common in the EOPs (p < 0.001), and the effect was more pronounced among Cw6*0602-negatives. This variant was also associated with an increased risk of psoriatic arthritis (PsA) independent from other factors (OR = 1.62, 95%CI = 1.11-2.37). The rs3533754 and rs35744605 polymorphisms did not show significant differences between the two onset age or PsA groups. Compared to the controls, the 946Thr variant was more common in the EOPs (nonsignificant difference) and significantly less common in patients aged >40 years (p = 0.005). In conclusion, the common IFIH1 rs1990760 T allele was significantly more frequent in early-onset compared to late-onset patients. This variant was also an independent risk factor for PsA in our cohort. Our study reinforces the widely reported role of the IFIH1 gene variants on psoriatic disease.


Assuntos
Artrite Psoriásica , Psoríase , Humanos , Helicase IFIH1 Induzida por Interferon/genética , Polimorfismo de Nucleotídeo Único , Predisposição Genética para Doença , Artrite Psoriásica/genética , Psoríase/genética , Vincristina
4.
J Clin Med ; 12(14)2023 Jul 21.
Artigo em Inglês | MEDLINE | ID: mdl-37510926

RESUMO

Cardiovascular disease (CVD) is the leading cause of death worldwide, with coronary artery disease (CAD) being one of its main manifestations. Both environmental and genetic factors are widely known to be related to CAD, such as smoking, diabetes mellitus, dyslipidemia, and a family history of CAD. However, there is still a lack of information about other risk factors, especially those related to genetic mutations. Sex represents a classic CAD risk factor, as men are more likely to suffer CAD, but there is lack of evidence with regard to sex-specific genetic factors. We evaluated the Y chromosome haplogroups in a cohort of young Spanish male patients who suffered from STEMI. In this cohort, haplogroup R was significantly more frequent in STEMI patients.

5.
J Clin Med ; 12(6)2023 Mar 08.
Artigo em Inglês | MEDLINE | ID: mdl-36983136

RESUMO

Mitochondrial DNA (mtDNA) differs from the nuclear genome in many aspects: a maternal inheritance pattern; being more prone to acquire somatic de novo mutations, accumulative with age; and the possible coexistence of different mtDNA alleles (heteroplasmy). Mitochondria are key cellular organelles responsible for energy production and involved in complex mechanisms, including atherosclerosis. In this scenario, we aimed to evaluate mtDNA variants that could be associated with premature cardiovascular disease. We evaluated 188 consecutive patients presenting with premature myocardial infarction with ST elevation (STEMI) confirmed by coronary angiogram. mtDNA polymorphisms and clinical data were evaluated and compared with 271 individuals from the same population (control group). Tobacco consumption (80.85% vs. 21.21%, p < 0.01) and dyslipidemia (38.83% vs. 28.41%, p = 0.02) were significantly more frequent among STEMI patients. Moreover, C16223T mtDNA mutation and poly-C heteroplasmy were significantly more frequent among premature STEMI male patients than in controls. The OR associated C16223T mtDNA with the increased presence of cardiovascular risk factors. Our data suggest that mtDNA 16223T and heteroplasmy may be associated with unstable premature atherosclerosis disease in men. Moreover, the presence of cardiovascular risk factors (CVRFs) was associated with C16223T mtDNA, with a cumulative effect. Protective mitochondrial pathways are potential therapeutic targets. Preventing exposure to the damaging mechanisms associated with CVRFs is of utmost importance.

6.
J Clin Med ; 12(3)2023 Jan 29.
Artigo em Inglês | MEDLINE | ID: mdl-36769678

RESUMO

Familial hypercholesterolemia (FH) is the most common genetic disorder associated with premature atherosclerotic cardiovascular (CV) disease (ASCVD). However, it still is severely underdiagnosed. Initiating lipid-lowering therapy (LLT) in FH patients early in life can substantially reduce their ASCVD risk. As a result, identifying FH is of the utmost importance. The increasing availability of genetic testing may be useful in this regard. We aimed to evaluate the genetic profiles, clinical characteristics, and gender differences between the first consecutive patients referred for genetic testing with FH clinical suspicion in our institution (a Spanish cohort). Clinical information was reviewed, and all participants were sequenced for the main known genes related to FH: LDLR, APOB, PCSK9 (heterozygous FH), LDLRAP1 (autosomal recessive FH), and two other genes related to hyperlipidaemia (APOE and LIPA). The genetic yield was 32%. Their highest recorded LDLc levels were 294 ± 65 SD mg. However, most patients (79%) were under > 1 LLT medication, and their last mean LDLc levels were 135 ± 51 SD. LDLR c.2389+4A>G was one of the most frequent pathogenic/likely pathogenic variants and its carriers had significantly worse LDLc highest recorded levels (348 ± 61 SD vs. 282 ± 60 SD mg/dL, p = 0.002). Moreover, we identified an homozygous carrier of the pathogenic variant LDLRAP1 c.207delC (autosomal recessive FH). Both clinical and genetic hypercholesterolemia diagnosis was significantly established earlier in men than in women (25 years old ± 15 SD vs. 35 years old ± 19 SD, p = 0.02; and 43 ± 17 SD vs. 54 ± 19 SD, p = 0.02, respectively). Other important CV risk factors were found in 44% of the cohort. The prevalence of family history of premature ASCVD was high, whereas personal history was exceptional. Our finding reaffirms the importance of early detection of FH to initiate primary prevention strategies from a young age. Genetic testing can be very useful. As it enables familial cascade genetic testing, early prevention strategies can be extended to all available relatives at concealed high CV risk.

7.
FEMS Microbiol Lett ; 3702023 01 17.
Artigo em Inglês | MEDLINE | ID: mdl-36690345

RESUMO

Azospirillum baldaniorum Sp 245 is a model plant growth-promoting rhizobacterium. The first cross-talk with plants takes place within the roots. Roots cells growth is constrained by the primary cell wall (CW). Also, neighboring CW form the apoplast that should affect cells signaling and biochemical messages. Studies on CW phenolic composition ferulate (FA), diferulates (DFA) and p-coumarate and polyamines (PA) metabolisms of A. baldaniorum Sp 245- inoculated roots and on bacterial PA production in culture media should help to understand more about the mechanisms involved in Azospirillum-root association. For this purpose, CW-bound FA, DFA and p-coumarate contents, putrescine (put) and spermidine contents, diamine and polyamine oxidases activities, and H2O2 content of Cucumis sativus roots from dark grown seedlings inoculated with A. baldaniorum Sp 245 were determined. Also, bacterial PA production under constant agitation or static conditions was evaluated. Results showed lesser contents of all phenolics, and higher FA/DFA ratio in CW of inoculated roots that should be responsible for roots growth promotion. Also, the increased put content, DAO activity, and H2O2 production in the roots should be associated to A. baldaniorum Sp 245 growth promotion in early stages. Finally, the participation of both PA in A. baldaniorum Sp 245 biofilm formation was demonstrated.


Assuntos
Cucumis sativus , Cucumis sativus/metabolismo , Poliaminas/metabolismo , Plântula , Peróxido de Hidrogênio/metabolismo , Raízes de Plantas/metabolismo , Putrescina/metabolismo , Parede Celular/metabolismo
8.
Br J Cancer ; 128(5): 857-876, 2023 03.
Artigo em Inglês | MEDLINE | ID: mdl-36550207

RESUMO

BACKGROUND: Liquid biopsy and Integrative Genomic Profiling (IGP) are yet to be implemented into routine Radiation Oncology. Here we assess the utility of germline, tumour and circulating cell-free DNA-based genomic analyses for the clinical management of early-stage and oligometastatic cancer patients treated by precision radiotherapy. METHODS: We performed germline, tissue- and liquid biopsy NGS panels on 50 early-stage/oligometastatic cancer patients undergoing radiotherapy. We also monitored ctDNA variants in serial liquid biopsies collected during radiotherapy and follow-up and evaluated the clinical utility of such comprehensive approach. RESULTS: The integration of different genomic studies revealed that only 1/3 of the liquid biopsy variants are of tumour origin. Altogether, 55 tumour variants (affecting 3/4 of the patients) were considered potentially actionable (for treatment and prognosis), whereas potential follow-up biomarkers were identified in all cases. Germline cancer-predisposing variants were present in three patients, which would have not been eligible for hereditary cancer testing according to clinical guidelines. The presence of detectable ctDNA variants before radiotherapy was associated with progression-free survival both in oligometastatic patients and in those with early-stage. CONCLUSIONS: IGP provides both valuable and actionable information for personalised decision-making in Radiation Oncology.


Assuntos
DNA Tumoral Circulante , Neoplasias , Radioterapia (Especialidade) , Humanos , DNA Tumoral Circulante/genética , Biomarcadores Tumorais/genética , Biópsia Líquida , Genômica , Mutação
9.
Hum Immunol ; 83(8-9): 613-617, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-35777990

RESUMO

The NF-κB signaling pathway is a key regulator of inflammation in the response to SARS-CoV-2 infection. This pathway has been implicated in the hyperinflammatory state that characterizes the severe forms of COVID-19. The genetic variation of the NF-κB components might thus explain the predisposition to critical outcomes of this viral disease. We aimed to study the role of the common NFKB1 rs28362491, NFKBIA rs696 and NFKBIZ rs3217713 variants in the risk of developing severe COVID-19 with ICU admission. A total of 470 Spanish patients requiring respiratory support in the ICU were studied (99 deceased and 371 survivors). Compared to healthy population controls (N = 300), the NFKBIA rs696 GG genotype was increased in the patients (p = 0.045; OR = 1.37). The NFKBIZ rs3217713 insertion homozygosis was associated with a significant risk of death (p = 0.02; OR = 1.76) and was also related to increased D-dimer values (p = 0.0078, OR = 1.96). This gene has been implicated in sepsis in mice and rats. Moreover, we found a trend toward lower expression of the NFKBIZ transcript in total blood from II patients. In conclusion, variants in the NF-κB genes might be associated with the risk of developing severe COVID-19, with a significant effect of the NFKBIZ gene on mortality. Our results were based on a limited number of patients and require validation in larger cohorts from other populations.


Assuntos
COVID-19 , NF-kappa B , Proteínas Adaptadoras de Transdução de Sinal , COVID-19/genética , Estudos de Associação Genética , Predisposição Genética para Doença , Humanos , Inibidor de NF-kappaB alfa/genética , NF-kappa B/genética , Subunidade p50 de NF-kappa B/genética , Polimorfismo de Nucleotídeo Único , SARS-CoV-2 , Transdução de Sinais
10.
Life (Basel) ; 12(6)2022 May 30.
Artigo em Inglês | MEDLINE | ID: mdl-35743849

RESUMO

Background: In around 40−60% of Hypertrophic Cardiomyopathy (HCM) cases pathogenic variants are not identified. Our aim was to evaluate the possible association of lncRNAs with the risk of developing HCM. Methods: We sequenced 10 lncRNAs coding genes that have been associated with cardiovascular disease in a discovery cohort (238 HCM patients and 212 controls) by NGS, and genotyped rs74035787 G>A and rs1424019 A>G polymorphism in a validation cohort (962 HCM patients and 923 controls). Finally, we sequenced the FENDRR promoter by Sanger sequencing. Results: We observed by NGS that FENDRR rs39527, rs39529 and rs40384 polymorphisms were significantly associated with HCM in our cohort (p = 0.0284; OR: 0.24, 95%CI: 0.07−0.86). NGS results were confirmed by genotyping rs74035787 polymorphism (p = 0.001; OR:0.38, 95%CI: 0.21−0.66). Moreover, it is also associated when stratification by sex (p = 0.003; OR:0.20, 95%CI: 0.06−0.53), and age (≥50 years old p = 0.001, OR:0.33, 95%CI: 0.16−0.63) Moreover, the risk of HCM in the carriers of the GG genotype of the rs1424019 polymorphism was significantly higher than that of the AA/AG genotypes carriers in the elderly subjects (p = 0.045, OR:1.24, 95%CI: 1.01−1.53). On the other hand, we observed significant differences in the rs74035787 A/rs1424019 G haplotype frequency (p = 0.0035; OR: 0.20, 95%CI: 0.07−0.59). Conclusions: Our study suggested a significant association between FENDRR gene variants and HCM.

11.
Acta Ophthalmol ; 98(8): e1034-e1048, 2020 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-32483926

RESUMO

PURPOSE: In the era of precision medicine, genomic characterization of blind patients is critical. Here, we evaluate the effects of comprehensive genetic analysis on the etiologic diagnosis of potentially hereditary vision loss and its impact on clinical management. METHODS: We studied 100 non-syndromic and syndromic Spanish patients with a clinical diagnosis of blindness caused by alterations on the retina, choroid, vitreous and/or optic nerve. We used a next-generation sequencing (NGS) panel (OFTALMOgenics™), developed and validated within this study, including up to 362 genes previously associated with these conditions. RESULTS: We identified the genetic cause of blindness in 45% of patients (45/100). A total of 28.9% of genetically diagnosed cases (13/45) were syndromic and, of those, in 30.8% (4/13) extraophthalmic features had been overlooked and/or not related to visual impairment before genetic testing, including cases with Mainzer-Saldino, Bardet-Biedl, mucolipidosis and MLCRD syndromes. In two additional cases-syndromic blindness had been proposed before, but not specifically diagnosed, and one patient with Heimler syndrome had been misdiagnosed as an Usher case before testing. 33.3% of the genetically diagnosed patients (15/45) had causative variants in genes targeted by clinical trials exploring the curative potential of gene therapy approaches. CONCLUSION: Comprehensive genomic testing provided clinically relevant insights in a large proportion of blind patients, identifying potential therapeutic opportunities or previously undiagnosed syndromes in 42.2% of the genetically diagnosed cases (19/45).


Assuntos
Gerenciamento Clínico , Testes Genéticos/métodos , Genômica/métodos , Doenças do Nervo Óptico/genética , Doenças Retinianas/genética , Sequenciamento de Nucleotídeos em Larga Escala , Humanos , Doenças do Nervo Óptico/diagnóstico , Doenças do Nervo Óptico/terapia , Linhagem , Fenótipo , Doenças Retinianas/diagnóstico , Doenças Retinianas/terapia , Síndrome
12.
Eur J Nutr ; 58(1): 63-81, 2019 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-29124388

RESUMO

PURPOSE: Olive pomace is a major waste product of olive oil production but remains rich in polyphenols and fibres. We measured the potential of an olive pomace-enriched biscuit formulation delivering 17.1 ± 4.01 mg/100 g of hydroxytyrosol and its derivatives, to modulate the composition and metabolic activity of the human gut microbiota. METHODS: In a double-blind, controlled parallel dietary intervention 62 otherwise healthy hypercholesterolemic (total plasma cholesterol 180-240 mg/dl) subjects were randomly assigned to eat 90 g of olive pomace-enriched biscuit (olive-enriched product, OEP) or an isoenergetic control (CTRL) for 8 weeks. Fasted blood samples, 24-h urine and faecal samples were collected before and after dietary intervention for measurement of microbiota, metabolites and clinical parameters. RESULTS: Consumption of OEP biscuits did not impact on the diversity of the faecal microbiota and there was no statistically significant effect on CVD markers. A trend towards reduced oxidized LDL cholesterol following OEP ingestion was observed. At the genus level lactobacilli and Ruminococcus were reduced in OEP compared to CTRL biscuits. A trend towards increased bifidobacteria abundance was observed after OEP ingestion in 16S rRNA profiles, by fluorescent in situ hybridization and by qPCR. Targeted LC-MS revealed significant increases phenolic acid concentrations in 24-h urine following OEP ingestion and 3,4-dihydroxyphenylacetic acid (DOPAC) and homovanillic acid, derivatives of hydroxytyrosol, were elevated in blood. A sex effect was apparent in urine small phenolic acid concentrations, and this sex effect was mirrored by statistically significant differences in relative abundances of faecal bacteria between men and women. CONCLUSION: Ingestion of OEP biscuits led to a significant increase in the metabolic output of the gut microbiota with an apparent sex effect possibly linked to differences in microbiota makeup. Increased levels of homovanillic acid and DOPAC, thought to be involved in reducing oxidative LDL cholesterol, were observed upon OEP ingestion. However, OEP did not induce statistically significant changes in either ox-LDL or urinary isoprostane in this study.


Assuntos
Pão , Microbioma Gastrointestinal/efeitos dos fármacos , Hipercolesterolemia/metabolismo , Olea/metabolismo , Extratos Vegetais/farmacologia , Adulto , Idoso , Método Duplo-Cego , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Extratos Vegetais/metabolismo , Fatores Sexuais
13.
Cancer Res ; 74(7): 2106-18, 2014 Apr 01.
Artigo em Inglês | MEDLINE | ID: mdl-24525742

RESUMO

MUSASHI-1 (MSI-1) is a well-established stem cell marker in both normal and malignant colon cells and it acts by positively regulating the NOTCH pathway through inactivation of NUMB, a NOTCH signaling repressor. To date, the mechanisms of regulation of MSI-1 levels remain largely unknown. Here, we investigated the regulation of MSI-1 by NOTCH signaling in colorectal cancer cell lines and in primary cultures of colorectal cancer metastases. Stimulation by the NOTCH ligand DLL4 was associated with an increase of MSI-1 mRNA and protein levels, and this phenomenon was prevented by the addition of an antibody neutralizing NOTCH2/3 but not NOTCH1. Moreover, forced expression of activated NOTCH3 increased MSI-1 levels, whereas silencing of NOTCH3 by short hairpin RNA reduced MSI-1 levels in both colorectal cancer cells and CRC tumor xenografts. Consistent with these findings, enforced NOTCH3 expression or stimulation by DLL4 increased levels of activated NOTCH1 in colorectal cell lines. Finally, treatment of colorectal cancer cells with anti-NOTCH2/3 antibody increased NUMB protein while significantly reducing formation of tumor cell spheroids. This novel feed-forward circuit involving DLL4, NOTCH3, MSI-1, NUMB, and NOTCH1 may be relevant for regulation of NOTCH signaling in physiologic processes as well as in tumor development. With regard to therapeutic implications, NOTCH3-specific drugs could represent a valuable strategy to limit NOTCH signaling in the context of colorectal cancers overexpressing this receptor.


Assuntos
Neoplasias Colorretais/patologia , Proteínas do Tecido Nervoso/genética , Proteínas de Ligação a RNA/genética , Receptores Notch/fisiologia , Transdução de Sinais/fisiologia , Proteínas Adaptadoras de Transdução de Sinal , Animais , Proteínas de Ligação ao Cálcio , Linhagem Celular Tumoral , Neoplasias Colorretais/genética , Regulação Neoplásica da Expressão Gênica , Humanos , Peptídeos e Proteínas de Sinalização Intercelular/genética , Proteínas de Membrana/análise , Camundongos , Camundongos SCID , Metástase Neoplásica , Proteínas do Tecido Nervoso/análise , Receptor Notch3 , Esferoides Celulares
14.
PLoS One ; 7(8): e43379, 2012.
Artigo em Inglês | MEDLINE | ID: mdl-22927961

RESUMO

BACKGROUND AND AIM: Colon crypts are characterized by a hierarchy of cells distributed along the crypt axis. Aim of this paper was to develop an in vitro system for separation of epithelial cell subsets in different maturation stages from normal human colon. METHODOLOGY AND MAJOR FINDINGS: Dissociated colonic epithelial cells were stained with PKH26, which allows identification of distinct populations based on their proliferation rate, and cultured in vitro in the absence of serum. The cytofluorimetric expression of CK20, Msi-1 and Lgr5 was studied. The mRNA levels of several stemness-associated genes were also compared in cultured cell populations and in three colon crypt populations isolated by microdissection. A PKH(pos) population survived in culture and formed spheroids; this population included subsets with slow (PKH(high)) and rapid (PKH(low)) replicative rates. Molecular analysis revealed higher mRNA levels of both Msi-1 and Lgr-5 in PKH(high) cells; by cytofluorimetric analysis, Msi-1(+)/Lgr5(+) cells were only found within PKH(high) cells, whereas Msi-1(+)/Lgr5(-) cells were also observed in the PKH(low) population. As judged by qRT-PCR analysis, the expression of several stemness-associated markers (Bmi-1, EphB2, EpCAM, ALDH1) was highly enriched in Msi-1(+)/Lgr5(+) cells. While CK20 expression was mainly found in PKH(low) and PKH(neg) cells, a small PKH(high) subset co-expressed both CK20 and Msi-1, but not Lgr5; cells with these properties also expressed Mucin, and could be identified in vivo in colon crypts. These results mirrored those found in cells isolated from different crypt portions by microdissection, and based on proliferation rates and marker expression they allowed to define several subsets at different maturation stages: PKH(high)/Lgr5(+)/Msi-1(+)/CK20(-), PKH(high)/Lgr5(-)/Msi-1(+)/CK20(+), PKH(low)/Lgr5(-)/Msi-1(+)/Ck20(-), and PKH(low)/Lgr5(-)/Msi-1(-)/CK20(+) cells. CONCLUSIONS: Our data show the possibility of deriving in vitro, without any selection strategy, several distinct cell subsets of human colon epithelial cells, which recapitulate the phenotypic and molecular profile of cells in a discrete crypt location.


Assuntos
Separação Celular/métodos , Colo/citologia , Mucosa Intestinal/citologia , Compostos Orgânicos/metabolismo , Biomarcadores/metabolismo , Diferenciação Celular , Proliferação de Células , Regulação da Expressão Gênica , Humanos , Mucosa Intestinal/metabolismo , Esferoides Celulares/citologia , Esferoides Celulares/metabolismo , Coloração e Rotulagem
15.
Hum Pathol ; 40(6): 887-92, 2009 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-19200580

RESUMO

Mucoepidermoid carcinoma of the breast is a rare entity with specific morphologic and immunohistochemical features similar to its salivary gland counterpart. In the 28 reported cases to date, there has not been a comparison of the molecular characteristics of this tumor with salivary gland mucoepidermoid carcinomas. Herein, a case of mucoepidermoid carcinoma of the breast with a molecular alteration similar to its salivary gland counterpart is reported. A lymph node metastasis was identified despite a predominantly in situ component and foci of microinvasion. The morphologic, immunohistochemical, prognostic, and molecular features are discussed.


Assuntos
Neoplasias da Mama/patologia , Carcinoma Mucoepidermoide/patologia , Neoplasias das Glândulas Salivares/patologia , Neoplasias da Mama/genética , Carcinoma Mucoepidermoide/genética , Proteínas de Ligação a DNA/análise , Feminino , Humanos , Hibridização in Situ Fluorescente , Pessoa de Meia-Idade , Proteínas Nucleares/análise , Neoplasias das Glândulas Salivares/genética , Transativadores , Fatores de Transcrição/análise
16.
Diaeta (B. Aires) ; 23(112): 14-22, jul.-sept. 2005. tab, graf
Artigo em Espanhol | LILACS | ID: lil-420556

RESUMO

El aceite de girasol se puede obtener a través de semillas de diversas variedades, las cuales presentan distintas características de calidad. Su valor nutritivo y aptitud culinaria se relaciona con la composición de ácidos grasos y la concentración de tocoferoles. Los ácidos grasos instaurados ayudan a prevenir diversas patologías hepáticas biliares, la osteoporosis, enfermedades cardiovasculares y ciertos cánceres en sistemas de tejidos celulares. El contenido en ácidos grasos saturados en el aceite de girasol es bajo, lo cual es deseable para uso alimenticio. Los tocoferoles tienen actividad antioxidante que permite retardar el enranciado del aceite. Son además, precursores de la vitamina E, indispensable para la nutrición humana. Se puede establecer dentro del aceite de girasol, tres grandes grupos de aceites en función de las proporciones de ácido oleico y ácido linoleico: alto oleico, medio oleico y tradicional. En este trabajo se buscó establecer una relación entre el contenido de ácido oleico y los índices utilizados convencionalmente para su identificación. El objetivo fué caracterizar la calidad de aceites de girasol de diferentes niveles de ácido oleico utilizando distintas metodologías de análisis físicos y químicos. Se extrajo con solventes el aceite de semillas de girasol alto oleico, medio oleico y tradicional, provenientes de un solo genotipo de semilla para cada variedad. A partir de los aceites alto oleico y tradicional obtenidos, se realizaron mezclas de diferentes proporciones de cada uno. En todos los casos, se utilizaron aceites sin refinar. Se determinó en primer lugar la composición ácida y contenido de tocoferoles de las muestras y luego los índices de acidez, de refracción, de yodo y punto de humo. Tanto el índice de acidez, el de refracción como el de yodo presentaron buena correlación con el porcentaje de ácido oleico, encontrándose similitud en los valores para aceite medio oleico y la muestra conteniendo el mismo porcentaje de ácido oleico. El punto de humo arrojó valores situados por debajo de los esperados para estos tipos de aceites. En caso de los tocoferoles, no se estableció similitud en su contenido comparando el aceite medio oleico con la mezcla de igual porcentaje de ácido oleico...


Assuntos
Helianthus , Ácido Oleico , Óleos de Plantas , Ácidos Graxos
17.
Diaeta [B. Aires] ; 23(112): 14-22, jul.-sept. 2005. tab, graf
Artigo em Espanhol | BINACIS | ID: bin-903

RESUMO

El aceite de girasol se puede obtener a través de semillas de diversas variedades, las cuales presentan distintas características de calidad. Su valor nutritivo y aptitud culinaria se relaciona con la composición de ácidos grasos y la concentración de tocoferoles. Los ácidos grasos instaurados ayudan a prevenir diversas patologías hepáticas biliares, la osteoporosis, enfermedades cardiovasculares y ciertos cánceres en sistemas de tejidos celulares. El contenido en ácidos grasos saturados en el aceite de girasol es bajo, lo cual es deseable para uso alimenticio. Los tocoferoles tienen actividad antioxidante que permite retardar el enranciado del aceite. Son además, precursores de la vitamina E, indispensable para la nutrición humana. Se puede establecer dentro del aceite de girasol, tres grandes grupos de aceites en función de las proporciones de ácido oleico y ácido linoleico: alto oleico, medio oleico y tradicional. En este trabajo se buscó establecer una relación entre el contenido de ácido oleico y los índices utilizados convencionalmente para su identificación. El objetivo fué caracterizar la calidad de aceites de girasol de diferentes niveles de ácido oleico utilizando distintas metodologías de análisis físicos y químicos. Se extrajo con solventes el aceite de semillas de girasol alto oleico, medio oleico y tradicional, provenientes de un solo genotipo de semilla para cada variedad. A partir de los aceites alto oleico y tradicional obtenidos, se realizaron mezclas de diferentes proporciones de cada uno. En todos los casos, se utilizaron aceites sin refinar. Se determinó en primer lugar la composición ácida y contenido de tocoferoles de las muestras y luego los índices de acidez, de refracción, de yodo y punto de humo. Tanto el índice de acidez, el de refracción como el de yodo presentaron buena correlación con el porcentaje de ácido oleico, encontrándose similitud en los valores para aceite medio oleico y la muestra conteniendo el mismo porcentaje de ácido oleico. El punto de humo arrojó valores situados por debajo de los esperados para estos tipos de aceites. En caso de los tocoferoles, no se estableció similitud en su contenido comparando el aceite medio oleico con la mezcla de igual porcentaje de ácido oleico... (AU)


Assuntos
Óleos de Plantas , Helianthus , Ácido Oleico , Ácidos Graxos
18.
Alm. DANT ; (0): 2-4, dez. 2004. ilus
Artigo em Português | Sec. Munic. Saúde SP, COVISA-Producao, Sec. Munic. Saúde SP, Sec. Munic. Saúde SP | ID: sms-7518
19.
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