Decompensated Chronic Heart Failure Reduces Plasma L-carnitine.

The heart has an intense aerobic metabolism and is among the most metabolically active organs in the body. Its tissue stores fatty acid, the main energetic substrate, and requires high concentrations of plasma L-carnitine. This nutrient is essential in the transport of fatty acids to the mitochondria to generate energy and maintain the proper concentration of coenzyme A free. In decompensated chronic heart failure metabolic changes, associated with inflammation, alter the metabolism of L-carnitine and compromise cardiac energy metabolism. The aim of this study was to evaluate plasma L-carnitine in chronic heart failure patients during cardiac decompensation. A cross-sectional study was conducted with 109 volunteers with chronic heart failure. Participants were stratified in the compensated (HF compensated) and decompensated (decompensated HF) groups. Plasma L-carnitine was evaluated by the spectrophotometric enzymatic method. Low plasma L-carnitine was found in the decompensated HF group (p = 0.0001). In this group it was also observed that 29.1% of the participants presented plasma L-carnitine below the reference range (<20 mmol). Reduced plasma L-carnitine in patients with decompensated chronic systolic heart failure was founded. These findings suggest that plasma L-carnitine assessment may be helpful in clinical practice for the treatment of patients with cardiac decompensation.

Doping control analysis at the Rio 2016 Olympic and Paralympic Games.

This paper summarises the results obtained from the doping control analyses performed during the Summer XXXI Olympic Games (August 3-21, 2016) and the XV Paralympic Games (September 7-18, 2016). The analyses of all doping control samples were performed at the Brazilian Doping Control Laboratory (LBCD), a World Anti-Doping Agency (WADA)-accredited laboratory located in Rio de Janeiro, Brazil. A new facility at Rio de Janeiro Federal University (UFRJ) was built and fully operated by over 700 professionals, including Brazilian and international scientists, administrative staff, and volunteers. For the Olympic Games, 4913 samples were analysed. In 29 specimens, the presence of a prohibited substance was confirmed, resulting in adverse analytical findings (AAFs). For the Paralympic Games, 1687 samples were analysed, 12 of which were reported as AAFs. For both events, 82.8% of the samples were urine, and 17.2% were blood samples. In total, more than 31 000 analytical procedures were conducted. New WADA technical documents were fully implemented; consequently, state-of-the-art analytical toxicology instrumentation and strategies were applied during the Games, including different types of mass spectrometry (MS) analysers, peptide, and protein detection strategies, endogenous steroid profile measurements, and blood analysis. This enormous investment yielded one of the largest Olympic legacies in Brazil and South America. Copyright © 2017 John Wiley & Sons, Ltd.

Determination of six pterins in urine by LC-MS/MS.

BACKGROUND: The present work describes an analytical method for urinary pterins by LC-MS/MS, with emphasis on the separation of 6- and 7-positional isomers of bio- and neopterins. RESULTS: Urine sample preparation consisted of oxidation by MnO(2), filtration and direct dilution in the mobile phase. The method was validated in urine spiked at five concentration levels with true triplicates of each level. Separation of the pterins, including the positional isomers, was achieved by employing a LUNA amino column. Six pterins were quantified (pterin, isoxanthopterin, 6-biopterin, 7-biopterin, 6-neopterin, 7-neopterin) and a linear behavior was observed; LOD varied from 7 to 360 pg/ml and correlation coefficients above 0.98 were obtained for all pterins. In addition, pterin levels were evaluated in 41 urine samples of healthy subjects, in ten urine samples of patients with classical phenylketonuria (PKU) and in one with atypical PKU. CONCLUSION: The proposed method allowed to identify, separate and quantify six pterins in urine, using a simple and rapid sample preparation. The atypical PKU was unequivocally differentiated from the classical form, demonstrating that this method could be very useful for characterization and follow-up of diseases.

Investigação diagnóstica de erros inatos do metabolismo em um hospital universitário / Diagnostic investigation of inborn errors of metabolism in a university hospital

OBJETIVOS: Estabelecer a freqüência de erros inatos do metabolismo (EIMs) em uma amostra de pacientes com hipótese diagnóstica de EIM proveniente do Hospital das Clínicas da Faculdade de Medicina de Botucatu da Universidade Estadual Paulista (UNESP) e analisar a metodologia empregada nessa investigação. AMOSTRA E MÉTODOS: Foram triadas para EIM, por testes químicos e técnicas cromatográficas, 1.233 amostras de urina de 905 pacientes. RESULTADOS: O diagnóstico de EIM foi estabelecido em 18 (1,98 por cento) pacientes; 12 deles apresentaram triagem (testes químicos e cromatografias) alterada para EIM. Todos os pacientes foram diagnosticados por análises enzimáticas. CONCLUSÃO: A freqüência de EIMs diagnosticados neste estudo (1,98 por cento), quando comparada com a literatura, foi satisfatória, uma vez que este grupo de pacientes foi proveniente de um único hospital. A metodologia provou ser eficaz, indicando 12 casos de EIM entre os 18 diagnosticados. O estudo mostra a importância de laboratórios especializados na detecção deste tipo de patologia.

OBJECTIVE: To establish the frequency of inborn errors of metabolism (IEM) in a cohort of patients with a diagnostic hypothesis of IEM, deriving from the Hospital das Clínicas da Faculdade de Medicina de Botucatu of UNESP and to analyse the methodology used for this investigation. METHODS: 1,233 urine samples from 905 patients were screened for IEM by chemical tests and chromatographic techniques. RESULTS: IEM were diagnosed in 18 patients; twelve of these showed alterations in the IEM screening procedures (chemical tests and chromatography). All the 18 patients were diagnosed by enzymatic analyses. CONCLUSION: The IEM frequency diagnosed in this study (1.98 percent) was reasonable, since this group of patients came from a single hospital. The methodology proved to be efficient, indicating 12 IEM cases among the 18 diagnosed. The study shows the importance of specialized laboratories for the detection of this kind of pathology.

Diagnostico laboratorial da doenca de Niemann-Pick Tipo C: relato de uma experiencia pioneira no Brasil / Laboratorial diagnosis of Niemann-Pick type C disease: a case report

A doenca de Niemann-Pic tipo C (DNPC), um erro inato do metabolismo que se caracteriza por hepatoesplenomegalia e alteracoes neurologicas progressivas, tem sido pouco diagnosticada em nosso meio, nao havendo ate agora laboratorios que realizem esse diagnostico no continente latino-americano. Considerando que os pacientes com a doenca acumulam colesterol no citoplasma das suas celulas, implantamos, na Unidade de Genetica Medica do HCPA, um metodo diagnostico para DNPC baseado na identificacao do colesterol acumulado em fibroblastos cultivados a partir de biopsias de pele. O metodo se mostrou adequado e confiavel, permitindo em curto espaco de tempo o diagnostico de 3 novos cados da doenca em pacientes encaminhados para investigacao no Laboratorio de Referencia de Erros Inatos do Metabolismo para investigacao