Inborn errors of metabolism are genetic disorders due to impaired activity of enzymes, transporters, or cofactors resulting in accumulation of abnormal metabolites proximal to the metabolic block, lack of essential products or accumulation of by-products. Many of these disorders have serious clinical consequences for affected neonates, and an early diagnosis allows presymptomatic treatment which can prevent severe permanent sequelae and in some cases death. Expanded newborn screening for these diseases is a promising field of targeted metabolomics. Here we report the application, between 2007 and 2014, of this approach to the identification of newborns in southern Italy at risk of developing a potentially fatal disease. The analysis of amino acids and acylcarnitines in dried blood spots by tandem mass spectrometry revealed 24 affected newborns among 45,466 infants evaluated between 48 and 72 hours of life (overall incidence: 1 : 1894). Diagnoses of newborns with elevated metabolites were confirmed by gas chromatography-mass spectrometry, biochemical studies, and genetic analysis. Five infants were diagnosed with medium-chain acyl CoA dehydrogenase deficiency, 1 with methylmalonic acidemia with homocystinuria type CblC, 2 with isolated methylmalonic acidemia, 1 with propionic acidemia, 1 with isovaleric academia, 1 with isobutyryl-CoA dehydrogenase deficiency, 1 with beta ketothiolase deficiency, 1 with short branched chain amino acid deficiency, 1 with 3-methlycrotonyl-CoA carboxylase deficiency, 1 with formimino-transferase cyclodeaminase deficiency, and 1 with cystathionine-beta-synthase deficiency. Seven cases of maternal vitamin B12 deficiency and 1 case of maternal carnitine uptake deficiency were detected. This study supports the widespread application of metabolomic-based newborn screening for these genetic diseases.

Significant decrease in human immunodeficiency virus type 1 (HIV-1) vertical transmission has been observed

OBJETIVOS: identificar gestantes infectadas pelo HIV em centro de referência e investigar características refe-rentes à infecção e paridade. MÉTODOS: estudo transversal, que abrangeu toda a população de gestantes infectadas pelo HIV assistidas no Pré-Natal de Alto Risco do Hospital das Clínicas da Universidade Federal de Minas Gerais, em 2004. Foram coletados dados demográficos, epidemiologia da infecção pelo HIV e história obstétrica. Para análise estatística foi utilizado o SPSS 12.0. RESULTADOS: foram identificadas 85 mulheres com média de idade de 29,1 anos e 90 gestações. Em 55 gestações (61,1%), as mulheres tinham conhecimento prévio da infecção. Sessenta e quatro (71,1%) informavam união estável. Provavelmente, todas adquiriram o HIV em relações heterossexuais. Cinqüenta e quatro (60%) tiveram o diagnóstico durante alguma gravidez. A média global de gestações foi 3,5, sendo 1,71 após o diagnóstico. Pacientes com diagnóstico prévio apresentaram maior média de gestações, em relação àquelas com diagnóstico na gestação estudada (p = 0,002). Oitenta e seis gestantes usaram anti-retroviral, sendo 56,7% por indicação terapêutica. Não foram verificados casos de transmissão vertical. CONCLUSÕES: novas gestações em mulheres infectadas pelo HIV não são raras, apesar dos recursos de contracepção oferecidos. Assim, outras investigações são necessárias para a identificar suas dificuldades não abordadas durante a assistência médica de rotina.

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BACKGROUND Patients undergoing solid organ transplantation, particularly those who live or have lived in tuberculosis (TB) endemic areas, are at a high risk of developing TB. The majority of post-transplantation TB cases are associated with reactivation of latent TB infection (LTBI). Brazil is in a single position with overlapping areas of high TB endemicity and high transplant activity. In liver transplant (LT), one should be aware of the potential hepatotoxicity associated with the treatment regimens for LTBI. AIM To evaluate the frequency of LTBI in LT patients and treatment-related issues. METHODS This was a retrospective analysis of a cohort of cirrhotic patients aged ≥ 18 years, who underwent LT at a high-complexity teaching hospital from January 2005 to December 2012. RESULTS Overall, 429 patients underwent LT during the study period. Of these, 213 (49.7%) underwent the tuberculin skin test (TST) during the pre-transplant period, and 35 (16.4%) of them had a positive result. The treatment for LTBI was initiated after LT in 12 (34.3%) of the TST-positive patients; in 3 (25.0%), treatment was maintained for at least 6 mo. CONCLUSION The prevalence of LTBI was lower than expected. Initiation and completion of LTBI treatment was limited by difficulties in the management of these special patients.

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