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Guatem. pediátr. ; 1(2): 2-11, 2017.
Artigo em Espanhol | LILACS | ID: biblio-981404


Presentación descriptiva de la frecuencia de las enfermedades genéticas en base a la clínica y hallazgos de laboratorio en pacientes atendidos en la clínica de genética Pediátrica localizada en el complejo de OSSHP en la Antigua Guatemala que funciona desde el año 1999 hasta la actualidad. Los datos estadísticos están basados en el registro de la base de datos utilizado para las consultas algunas enfermedades, diagnósticos, hallazgos. Se utiliza también el sistema de clasificación internacional de enfermedades (CIE10). El papel del pediatra en el descubrimiento diagnóstico, tratamiento y prevención es crucial en los hallazgos de trastornos genéticos. La mayoría de las anomalías encontradas generalmente son parte de un síndrome, la prevención y el diagnóstico temprano siempre serán determinantes para el tratamiento y pronóstico, existen opciones de terapéutica: medicamentos, terapia (física, sensorial, estimulación temprana, etc) y hasta un simple cambio en la dieta que se convierta en fundamental para la vida del paciente.

Humanos , Terapêutica , Saúde da Criança , Genética
Rapid Commun Mass Spectrom ; 28(8): 965-73, 2014 Apr 30.
Artigo em Inglês | MEDLINE | ID: mdl-24623702


RATIONALE: For Newborn Screening (NBS) programs all over the world whole blood dried on filter paper, also referred to as dried blood spots (DBS), has been the standard specimen for decades. In recent years DBS have attracted the attention of pharmaceutical companies, mostly due to the low volume of collected sample and simplified, therefore more cost-efficient, transportation requirements. However, the classical NBS workflow did not totally fulfil the needs of their studies, especially with respect to high-throughput unassisted sample processing for tandem mass spectrometric (MS/MS) analysis. Automated on-line extraction systems for direct analysis have already been tested and proved to be suitable for these pharmaceutical applications. METHODS: The suitability of the automated CAMAG DBS-MS 500 interface for simultaneous detection of amino acids and (acyl-)carnitines has been tested together with an Acquity TQD tandem mass spectrometer from Waters and MassChrom stable isotope labelled internal standards from Chromsystems. No chromatographic sample treatment was applied; instead, the extract was directly injected into the MS/MS instrument. The feasibility of the instrumental setting for the routine newborn screening was tested on original samples coming from previously diagnosed patients. RESULTS: The performance of the automated extraction technique and its application in preliminary quantitative screening for amino acids and (acyl-)carnitines for NBS showed very promising results. Several samples from patients, each diagnosed with one of four different inborn errors of metabolism (IEM), were tested and the correlation with the conventional punch-and-elute approach was very good. CONCLUSIONS: Although the presented method still needs further optimization, our study clearly shows the possibility to use direct on-line analysis in the NBS setting. Our report on direct on-line analysis of newborn samples is a first approach in the development of a fully automated screening method for NBS analysis. With regard to the chemical properties of the analytes, the study resulted in a readily applicable screening method.

Aminoácidos/sangue , Carnitina/análogos & derivados , Triagem Neonatal/métodos , Espectrometria de Massas em Tandem/métodos , Carnitina/sangue , Teste em Amostras de Sangue Seco/métodos , Desenho de Equipamento , Humanos , Recém-Nascido
Intractable Rare Dis Res ; 3(4): 153-61, 2014 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-25606365


The CGG trinucleotide repeat within the FMR1 gene is associated with multiple clinical disorders, including fragile X-associated tremor/ataxia syndrome, fragile X-associated primary ovarian insufficiency, and fragile X syndrome. Differences in the distribution and prevalence of CGG repeat length and of AGG interruption patterns have been reported among different populations and ethnicities. In this study we characterized the AGG interruption patterns within 3,065 normal CGG repeat alleles from nine world populations including Australia, Chile, United Arab Emirates, Guatemala, Indonesia, Italy, Mexico, Spain, and United States. Additionally, we compared these populations with those previously reported, and summarized the similarities and differences. We observed significant differences in AGG interruption patterns. Frequencies of longer alleles, longer uninterrupted CGG repeat segments and alleles with greater than 2 AGG interruptions varied between cohorts. The prevalence of fragile X syndrome and FMR1 associated disorders in various populations is thought to be affected by the total length of the CGG repeat and may also be influenced by the AGG distribution pattern. Thus, the results of this study may be important in considering the risk of fragile X-related conditions in various populations.

J Inherit Metab Dis ; 33(Suppl 2): S235-9, 2010 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-20652412


Blood sampling for newborn screening cannot be standardized as for example blood collection in adults after an overnight fast. Therefore the influence of postprandial changes and individual variation is valuable information for the assessment of sensitivity and specificity of newborn screening for certain disorders. We have analyzed 92 pairs of dried blood samples taken pre- and one hour postprandially, respectively. We have determined the mean increase in metabolite concentration and calculated its significance. Individual variation after an overnight fast in healthy adults (n = 3) was between 12 and 32% (SD). Postprandial increases of acylcarnitines were mostly not significant and not exceeding 10%. Postprandial increase of amino acids was highly significant for most proteinogenic amino acids, but not for all. With the collected data we were able to estimate that mainly decreased levels of methionine and, to a lesser extent, of free carnitine could be "masked" by postprandial increases of the respective metabolites, and could therefore lead to false negative results for the detection of disorders of cobalamin metabolism and carnitine transporter deficiency.

Aminoácidos/sangue , Carnitina/análogos & derivados , Erros Inatos do Metabolismo/diagnóstico , Triagem Neonatal , Período Pós-Prandial , Adulto , Biomarcadores/sangue , Coleta de Amostras Sanguíneas , Carnitina/sangue , Reações Falso-Negativas , Reações Falso-Positivas , Humanos , Recém-Nascido , Erros Inatos do Metabolismo/sangue , Pessoa de Meia-Idade , Triagem Neonatal/métodos , Valor Preditivo dos Testes , Regulação para Cima , Adulto Jovem