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Rev. lab. clín ; 12(3): e40-e46, jul.-sept. 2019. tab
Artigo em Espanhol | LILACS-Express | ID: ibc-ET1-4170


El análisis de ADN circulante a partir de sangre periférica ha demostrado ser de utilidad en campos clínicos tan diferentes como la oncología, los trasplantes y el cribado prenatal. Para su incorporación al laboratorio clínico es necesario asegurar protocolos preanalíticos adecuados, reproducibles y estandarizados. En este documento se pretenden dar unas recomendaciones preanalíticas para la obtención de ADN circulante a partir de sangre periférica. Incluyen el tipo de espécimen, el tipo de tubo de extracción, el modo de centrifugación de la muestra, la extracción del ADN circulante y cuantificación, así como su conservación

Cell-free DNA analysis in peripheral blood has been shown to be useful in oncology, organ transplantation, and prenatal screening. For its introduction into the clinical laboratory, it is necessary to ensure appropriate, reproducible and standardised pre-analytical protocols are in place. The aim of this document is to provide pre-analytical recommendations for obtaining of cell free DNA from peripheral blood. These recommendations include the type of sample and extraction tube, the method of centrifugation, the method for cell free DNA extraction, and measurement and storage conditions

Rev. lab. clín ; 12(1): 38-52, ene.-mar. 2019. tab, graf
Artigo em Espanhol | IBECS | ID: ibc-176973


Este documento describe las causas de error más frecuentes en la medición de marcadores tumorales séricos proteicos en sus diferentes fases: preanalítica, analítica y postanalítica y recomendaciones para detectar y solventar problemas, así como la interpretación de los resultados de los marcadores tumorales en la práctica clínica

This document describes the most frequent causes of error in the measurement of 13 serum protein tumour markers in their different phases: preanalytical, analytical and 14 postanalytic and recommendations to detect and solve problems, as well as the 15 interpretation of the results of the Tumor Markers in clinical practice

Humanos , Biomarcadores Tumorais/análise , Técnicas de Laboratório Clínico/métodos , Neoplasias/diagnóstico , Padrões de Prática Médica , Perfil de Impacto da Doença , Reprodutibilidade dos Testes , Coleta de Amostras Sanguíneas/normas , Preservação de Amostras/métodos
J Acquir Immune Defic Syndr ; 78(4): 437-440, 2018 08 01.
Artigo em Inglês | MEDLINE | ID: mdl-29601403


OBJECTIVE: To evaluate factors associated with increased serum cholesterol levels during interferon-free hepatitis C virus (HCV) therapy. DESIGN: Prospective longitudinal study. METHODS: HIV-infected patients who started and successfully completed interferon-free therapy for chronic HCV infection were included. Patients were treated using 2 different regimens, based on the clinician's opinion: sofosbuvir and ledipasvir (SOF/LDV), or paritaprevir coadministered with ombitasvir and dasabuvir (PrOD). Both total cholesterol and low-density lipoprotein cholesterol were evaluated at baseline, weeks 1, 2, 4, 8, end of treatment (EOT), weeks SVR4, SVR12, and SVR24. RESULTS: The study population therefore comprised 85 patients reaching sustained virological response, 42 (49.4%) of whom were treated with SOF/LDV, and 43 (50.6%) with PrOD. Patients using SOF/LDV was showed a higher increase on both total cholesterol and low-density lipoprotein cholesterol during treatment period than those receiving PrOD. Analyzing the overall increase from baseline to weeks 1, 2, 4, 8, and EOT, choice of HCV regimen was associated with differential increases in total cholesterol during therapy. After EOT, no differences were found between SOF/LDV and PrOD with respect to total cholesterol. CONCLUSIONS: Our study suggests that the differential timing of the restoration of cholesterol metabolism in HIV/HCV genotype 1 coinfected patients achieving sustained virological response is not mediated by HCV clearance but depends on the drug combination used.

Antivirais/administração & dosagem , Colesterol/sangue , Hepatite C Crônica/tratamento farmacológico , Resposta Viral Sustentada , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Quimioterapia Combinada/métodos , Feminino , Genótipo , Humanos , Estudos Longitudinais , Masculino , Pessoa de Meia-Idade , Estudos Prospectivos , Resultado do Tratamento , Adulto Jovem
Clin Infect Dis ; 64(7): 964-966, 2017 Apr 01.
Artigo em Inglês | MEDLINE | ID: mdl-28077520


Although hepatitis E virus (HEV) is regarded as a self-limiting infection and anti-HEV antibodies seem to protect against reinfection, its pathogenesis is not well established. We describe 2 cases of acute symptomatic HEV infection after hepatitis C therapy in patients carrying anti-HEV immunoglobulin G antibodies, raising 2 major questions: reactivation or reinfection?

Anticorpos Anti-Hepatite/imunologia , Vírus da Hepatite E/imunologia , Hepatite E/imunologia , Hepatite E/virologia , Imunoglobulina G/imunologia , Idoso , Terapia Antirretroviral de Alta Atividade , Antivirais/uso terapêutico , Coinfecção , Feminino , Infecções por HIV/diagnóstico , Infecções por HIV/tratamento farmacológico , Infecções por HIV/virologia , Anticorpos Anti-Hepatite/sangue , Hepatite C/tratamento farmacológico , Hepatite C/virologia , Hepatite E/diagnóstico , Humanos , Imunoglobulina G/sangue , Imunoglobulina M/sangue , Imunoglobulina M/imunologia , Masculino , Pessoa de Meia-Idade , Carga Viral , Ativação Viral
J Infect ; 70(6): 624-30, 2015 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-25452042


BACKGROUND & AIMS: The seroprevalence of the hepatitis E virus (HEV) and its chronicity rate in the HIV-infected population has not been well established. As a result, the magnitude of this emerging disease in this population cannot be established. METHODS: Prospective study that included HIV-infected patients followed up between September 2012 and May 2013. All included patients were tested for anti-HEV IgG/IgM. In patients with confirmed anti-HEV IgG/IgM positivity, RT-PCR was performed. In patients where HEV RNA was amplified, a second RT-PCR assay was performed 6 months later to identify transient or chronic HEV infections. RESULTS: Eight hundred and ninety-four HIV-infected patients were enrolled in the study. Of these patients, 399 (44.6%) were monoinfected with HIV; 462 (51.6%) were co-infected with HIV/HCV; 12 (1.3%) were co-infected with HIV/HBV; and 21 (2.3%) were co-infected with HIV/HCV/HBV. In 88 patients, anti-HEV IgG/IgM was detected (seroprevalence: 9.8% [95% CI: 8.02%-11.9%]). In five patients (0.5%; 95% CI: 0.2%-1.2%), HEV RNA was detected; 5.7% (95% CI: 2.1%-12.1%) of the patients were anti-HEV IgG/IgM positive. None of these patients showed detectable HEV RNA six months later. CONCLUSION: HEV infection is frequent in HIV-infected patients but developing a chronic HEV infection may be considered an uncommon liver disease in this population.

Coinfecção , Infecções por HIV/complicações , Anticorpos Anti-Hepatite/imunologia , Vírus da Hepatite E/imunologia , Hepatite E/epidemiologia , Adulto , Doença Crônica , Feminino , Infecções por HIV/imunologia , Hepatite E/complicações , Vírus da Hepatite E/isolamento & purificação , Humanos , Imunoglobulina G/sangue , Imunoglobulina M/sangue , Masculino , Pessoa de Meia-Idade , Estudos Prospectivos , Estudos Soroepidemiológicos , Espanha/epidemiologia
Clin Dev Immunol ; 2013: 785317, 2013.
Artigo em Inglês | MEDLINE | ID: mdl-23861693


Recently, immune edition has been recognized as a new hallmark of cancer. In this respect, some clinical trials in breast cancer have reported imppressive outcomes related to laboratory immune findings, especially in the neoadjuvant and metastatic setting. Infiltration by tumor infiltrating lymphocytes (TIL) and their subtypes, tumor-associated macrophages (TAM) and myeloid-derived suppressive cells (MDSC) seem bona fide prognostic and even predictive biomarkers, that will eventually be incorporated into diagnostic and therapeutic algorithms of breast cancer. In addition, the complex interaction of costimulatory and coinhibitory molecules on the immune synapse and the different signals that they may exert represent another exciting field to explore. In this review we try to summarize and elucidate these new concepts and knowledge from a translational perspective focusing on breast cancer, paying special attention to those aspects that might have more significance in clinical practice and could be useful to design successful therapeutic strategies in the future.

Neoplasias da Mama/imunologia , Carcinoma/imunologia , Linfócitos do Interstício Tumoral/imunologia , Macrófagos/imunologia , Células Mieloides/imunologia , Microambiente Tumoral/imunologia , Biomarcadores/análise , Neoplasias da Mama/diagnóstico , Neoplasias da Mama/patologia , Carcinoma/diagnóstico , Carcinoma/patologia , Feminino , Humanos , Tolerância Imunológica , Sinapses Imunológicas/patologia , Linfócitos do Interstício Tumoral/patologia , Macrófagos/patologia , Células Mieloides/patologia , Prognóstico
PLoS One ; 8(4): e61992, 2013.
Artigo em Inglês | MEDLINE | ID: mdl-23613999


AIM: To evaluate the influence of the presence of the killer cell immunoglobulin-like receptor (KIR) 3DS1 on HCV treatment response in HIV/HCV genotype 1 co-infected patients. METHODS: HIV/HCV co-infected patients were included. KIR3DS1, their specific HLA-B ligands and IL28B gene were genotyped. Reductions of plasma HCV RNA levels between baseline and week 1, week 2 and week 4 were analyzed for IL28B genotype and KIR3DS1 (HLA Bw4 or Bw6). Rapid and sustained virological response (RVR and SVR) rates were also analyzed. RESULTS: Sixty HIV/HCV genotype 1 co-infected patients were included. Patients with KIR3DS1 and Bw4 had higher rates of HCV viral decline than those who were not carriers of KIR3DS1 (week 1: p = 0.01; week 2: p = 0.038; week 4: p = 0.03). Patients carrying KIR3DS1/Bw4 had higher rates of RVR and SVR than those who did not carry KIR3DS1 (RVR: 46.15% versus 17.02%, p = 0.012; SVR: 63.6% versus 13 26.5%, p = 0.031). With respect to patients carrying the IL28B-CC genotype, those with KIR3DS1/Bw4 had greater rates of HCV viral clearance (week 1: p<0.001; week 2: p = 0.01; week 4: p = 0.02), RVR (p = 0.015) and SVR (p = 0.029) than those not carrying KIR3DS1. CONCLUSION: Our results show that the KIR3DS1 genotype has a positive effect on HCV viral clearance during the first weeks of Peg-IFN/RBV treatment in HCV/HCV co-infected patients bearing genotype 1, and higher RVR and SVR rates.

Infecções por HIV/metabolismo , Hepacivirus/patogenicidade , Receptores KIR3DS1/genética , Adulto , Coinfecção , Feminino , Genótipo , Humanos , Masculino , Pessoa de Meia-Idade , Reação em Cadeia da Polimerase Via Transcriptase Reversa , Carga Viral
BMC Med Genet ; 12: 116, 2011 Sep 08.
Artigo em Inglês | MEDLINE | ID: mdl-21902834


BACKGROUND: Genetic Hypophosphatemic Rickets (HR) is a group of diseases characterized by renal phosphate wasting with inappropriately low or normal 1,25-dihydroxyvitamin D3 (1,25(OH)2D) serum levels. The most common form of HR is X-linked dominant HR (XLHR) which is caused by inactivating mutations in the PHEX gene. The purpose of this study was to perform genetic diagnosis in a cohort of patients with clinical diagnosis of HR, to perform genotype-phenotype correlations of those patients and to compare our data with other HR cohort studies. METHODS: Forty three affected individuals from 36 non related families were analyzed. For the genetic analysis, the PHEX gene was sequenced in all of the patients and in 13 cases the study was complemented by mRNA sequencing and Multiple Ligation Probe Assay. For the genotype-phenotype correlation study, the clinical and biochemical phenotype of the patients was compared with the type of mutation, which was grouped into clearly deleterious or likely causative, using the Mann-Whitney and Fisher's exact test. RESULTS: Mutations in the PHEX gene were identified in all the patients thus confirming an XLHR. Thirty four different mutations were found distributed throughout the gene with higher density at the 3' end. The majority of the mutations were novel (69.4%), most of them resulted in a truncated PHEX protein (83.3%) and were family specific (88.9%). Tubular reabsorption of phosphate (TRP) and 1,25(OH)2D serum levels were significantly lower in patients carrying clearly deleterious mutations than in patients carrying likely causative ones (61.39 ± 19.76 vs. 80.14 ± 8.80%, p = 0.028 and 40.93 ± 30.73 vs. 78.46 ± 36.27 pg/ml, p = 0.013). CONCLUSIONS: PHEX gene mutations were found in all the HR cases analyzed, which was in contrast with other cohort studies. Patients with clearly deleterious PHEX mutations had lower TRP and 1,25(OH)2D levels suggesting that the PHEX type of mutation might predict the XLHR phenotype severity.

Calcitriol/sangue , Calcitriol/genética , Raquitismo Hipofosfatêmico Familiar/genética , Doenças Genéticas Ligadas ao Cromossomo X , Mutação , Endopeptidase Neutra Reguladora de Fosfato PHEX/genética , Fosfatos/sangue , Raquitismo/genética , Adolescente , Criança , Pré-Escolar , Estudos de Coortes , Análise Mutacional de DNA , Feminino , Genes Dominantes , Predisposição Genética para Doença , Genótipo , Humanos , Lactente , Túbulos Renais/metabolismo , Masculino , Fenótipo , Fosfatos/química