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1.
Rev. lab. clín ; 12(4): 189-195, oct.-dic. 2019. tab
Artigo em Espanhol | LILACS-Express | ID: ibc-ET1-4191

RESUMO

La espectrometría de masas en tándem (MS-MS) ha permitido ampliar el alcance del cribado neonatal. Eso hace más complicado determinar el momento más adecuado para la toma de muestra, sobre todo en recién nacidos prematuros y/o bajo peso y/o ingresados en unidades neonatales. El objetivo del presente estudio ha sido revisar las normas de toma de muestra de los distintos programas en estas situaciones, a nivel nacional e internacional. Se obtienen los datos a través de páginas web de salud pública, de plataformas de búsqueda o por contacto con los centros. Existe gran disparidad de criterios para la toma de una nueva muestra, incluso dentro de un mismo país. La limitación de información disponible, hizo imposible obtener resultados de muchos países, en particular de África, Asia o Latinoamérica. A pesar de que cada vez más estados se acogen a las recomendaciones del Clinical and Laboratory Standards Institute u otros organismos internacionales, el aumento del coste que implica, hace muy difícil conseguir la estandarización


The most significant breakthrough in the newborn screening (NBS) programs was the introduction of the tandem mass spectrometry (MS-MS) to the laboratory, which makes it possible to detect multiple disorders. However, it is difficult to choose the ideal time for the specimen collection, particularly in preterm, low birth weight, and sick newborns. The aim of this study was to revise the protocols, in national and international programs for specimen collection in these newborns. Data were collected from web pages of public health, internet searches, and contact with the laboratories. The results showed a great disparity in criteria for a new specimen collection, as well as among different centres within a country. It has been difficult to obtain this information from many countries in Africa, Asia, and Latin America. Although an increasing number of laboratories follow the recommendations of the Clinical and Laboratory Standards Institute or other international guidelines, the increased cost involved makes standardisation difficult

2.
Pediatr Infect Dis J ; 38(5): 520-524, 2019 05.
Artigo em Inglês | MEDLINE | ID: mdl-30199483

RESUMO

BACKGROUND: Detection of cytomegalovirus (CMV) DNA by real-time polymerase chain reaction (rt-PCR) in dried blood spots (DBSs) collected for newborn screening has been assessed for retrospective diagnosis of congenital CMV (cCMV) infection, with variable results (sensitivities ranging from 34% to 100%). We aimed to assess the accuracy of this technique in Spain in a large patient series. METHODS: Ambispective, multicenter study including patients with confirmed cCMV from the Spanish Registry of cCMV patients. cCMV was established on the presence of CMV DNA in any body fluid, by positive culture findings or by molecular techniques during the first 2 weeks of life. Children in whom cCMV had been excluded were used as negative controls. Neonatal DBS samples were collected from both groups. The presence of CMV DNA was assessed by rt-PCR (RealStar CMV, Altona, Germany) in a central laboratory. RESULTS: One-hundred three patients and 81 controls from 10 hospitals were included. The performance of CMV DNA determination in DBS for the diagnosis of cCMV was as follows (95% confidence interval): sensitivity 0.56 (0.47-0.65), specificity 0.98 (0.91-0.99), positive likelihood ratio 22.81 (5.74-90.58) and negative likelihood ratio 0.45 (0.36-0.56). Sensitivity increased with the birth viral load (bVL) log category. In cCMV patients, lower bVL was the single variable associated with a negative DBS rt-PCR result (P = 0.017). CONCLUSIONS: The sensitivity of CMV rt-PCR in DBS in our series was low and correlated with the bVL. Thus, a negative DBS result would not rule out cCMV infection, especially in patients with a low viremia level at birth.

3.
Rev. lab. clín ; 8(2): 82-91, abr.-jun. 2015. tab, ilus
Artigo em Espanhol | IBECS | ID: ibc-137611

RESUMO

La fibrosis quística es la enfermedad de herencia autosómica recesiva grave más frecuente en población caucásica. Su prevalencia en los países de Europa occidental es de un caso de cada 2.000 a 6.000 recién nacidos vivos. Los pacientes desarrollan una enfermedad pulmonar crónica y progresiva, que es la causa más frecuente de la morbimortalidad. En el 85% de los casos existe, además, insuficiencia pancreática. Son frecuentes las alteraciones hepatobiliares y genitourinarias, la azoospermia, aunque la enfermedad pulmonar y la insuficiencia pancreática son las que determinan la gravedad del proceso. Es una enfermedad genética causada por defectos en el gen CFTR (Cystic Fibrosis Transmembrane Conductance Regulator), en el que se han descrito hasta la fecha más de 1.900 mutaciones. El diagnóstico de la enfermedad es fundamentalmente clínico y la confirmación se realiza mediante la detección de niveles altos de cloro en sudor y la identificación de mutaciones en el gen CFTR (AU)


Cystic fibrosis is the most severe common autosomal recessive disease in caucasian population. Its prevalence in countries of Western Europe is one case in 2.000-6.000 live births. Patients develop a chronic, progressive lung disease, which is the most common cause of morbidity and mortality. In 85% of cases there is also pancreatic insufficiency. Hepatobiliary and genitourinary disorders and azoospermia are frequent, although lung symptoms and pancreatic insufficiency determine the severity of the disease. It is a genetic disease caused by defects in the CFTR gene (Cystic Fibrosis Transmembrane Conductance Regulator). To date more than 1900 mutations have been reported. Diagnosis of the disease is essentially clinical and confirmation is made by the detection of high levels of sweat chloride and the identification of mutations in the CFTR gen (AU)


Assuntos
Feminino , Humanos , Recém-Nascido , Masculino , Fibrose Cística/diagnóstico , Bioquímica/métodos , Testes de Química Clínica/métodos , Testes de Química Clínica/normas , Triagem Neonatal/organização & administração , Triagem Neonatal/normas , Triagem Neonatal/tendências , Regulador de Condutância Transmembrana em Fibrose Cística/análise , Regulador de Condutância Transmembrana em Fibrose Cística/biossíntese , Regulador de Condutância Transmembrana em Fibrose Cística/química , Testes Laboratoriais/métodos , Testes Laboratoriais/estatística & dados numéricos , Biologia Molecular/métodos , Testes de Química Clínica , Programas de Rastreamento/métodos , Regulador de Condutância Transmembrana em Fibrose Cística , Regulador de Condutância Transmembrana em Fibrose Cística/genética , Regulador de Condutância Transmembrana em Fibrose Cística/isolamento & purificação
4.
Enferm. infecc. microbiol. clín. (Ed. impr.) ; 32(9): 570-573, nov. 2014. tab
Artigo em Espanhol | IBECS | ID: ibc-129885

RESUMO

Introducción La determinación de la presencia de ADN de citomegalovirus (CMV) mediante técnicas de reacción en cadena de la polimerasa a tiempo real (rt-PCR) en la gota de sangre seca en el papel absorbente usado para la realización de la prueba de detección precoz neonatal ha sido validada para el diagnóstico retrospectivo de infección congénita por CMV (CMVc) en estudios realizados en otros países, pero no en el nuestro. El objetivo de este estudio es analizar el valor diagnóstico de esta técnica en nuestro centro. Métodos Estudio retrospectivo transversal observacional de todos los pacientes con diagnóstico confirmado de CMVc entre enero de 2007 y septiembre de 2012.Se ha determinado la presencia de ADN viral de CMV en las muestra de sangre seca de la prueba del talón de estos pacientes mediante rt-PCR. Resultados Se incluyeron 14 pacientes; 4/14 sintomáticos (..) (AU)


Introduction The detection of cytomegalovirus (CMV) DNA by real time polymerase chain reaction (rt-PCR) in dried blood spots collected routinely for metabolic screening has been assessed for the retrospective diagnosis of congenital CMV (cCMV) infection in many studies, but not in Spain. The aim of this study is to analyze the diagnostic accuracy of this technique in our hospital. Methods A cross-sectional retrospective observational study was conducted including all patients born between January, 2007 and September, 2012 with confirmed cCMV infection. The assessment of CMV DNA was made by using rt-PCR in dried blood spots of these patients. Results Fourteen patients were included: 4/14 were symptomatic and 4/14 (..) (AU)


Assuntos
Humanos , Masculino , Feminino , Recém-Nascido , Infecções por Citomegalovirus/diagnóstico , Reação em Cadeia da Polimerase , Infecções por Citomegalovirus/congênito , Sensibilidade e Especificidade , DNA Viral/análise , Triagem Neonatal/métodos , Teste em Amostras de Sangue Seco/métodos , Estudos Retrospectivos
5.
Enferm Infecc Microbiol Clin ; 32(9): 570-3, 2014 Nov.
Artigo em Espanhol | MEDLINE | ID: mdl-24268671

RESUMO

INTRODUCTION: The detection of cytomegalovirus (CMV) DNA by real time polymerase chain reaction (rt-PCR) in dried blood spots collected routinely for metabolic screening has been assessed for the retrospective diagnosis of congenital CMV (cCMV) infection in many studies, but not in Spain. The aim of this study is to analyze the diagnostic accuracy of this technique in our hospital. METHODS: A cross-sectional retrospective observational study was conducted including all patients born between January, 2007 and September, 2012 with confirmed cCMV infection. The assessment of CMV DNA was made by using rt-PCR in dried blood spots of these patients. RESULTS: Fourteen patients were included: 4/14 were symptomatic and 4/14 had sequelae. The detection of CMV DNA by rt-PCR was positive in only 7 patients. A statistically significant relationship between low viral load at birth and negative rt-PCR in dried blood spots was demonstrated. CONCLUSIONS: Despite the low number of patients included, our data highlight an important amount of false negative results in the DNA CMV detection by rt-PCR in these samples for the retrospective diagnosis of cCMV infection, especially in cases with low viral load at birth.


Assuntos
Infecções por Citomegalovirus/congênito , Citomegalovirus/isolamento & purificação , DNA Viral/sangue , Triagem Neonatal , Reação em Cadeia da Polimerase em Tempo Real , Viremia/congênito , Doenças Assintomáticas , Estudos Transversais , Infecções por Citomegalovirus/sangue , Infecções por Citomegalovirus/diagnóstico , Infecções por Citomegalovirus/urina , Reações Falso-Negativas , Feminino , Infecções por HIV , Humanos , Recém-Nascido , Masculino , Triagem Neonatal/métodos , Gravidez , Complicações Infecciosas na Gravidez/virologia , Estudos Retrospectivos , Urina/virologia , Carga Viral , Viremia/sangue , Viremia/diagnóstico
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