Abstract Lysosomal storage disorders (LSDs) are a group of genetic disorders characterized by deficiency of specific lysosomal enzymes. In general, patients are clinically normal at birth, and progressively develop severe signs and symptoms. Diagnosis is usually made several years after onset of manifestations, preventing patients to have the benefits of the early treatment. Newborn screening programs are being considered for LSDs to allow early diagnosis and treatment. The present study evaluated the feasibility of a customized screening approach based on modified fluorometric assays with reduced amounts of reagents, substrates and samples for: mucopolysaccharidosis (MPS) type I (MPS I), MPS VI, Fabry, Gaucher, and Pompe diseases. We also evaluated the advantages of including blood chitotriosidase and urinary glycosaminoglycans in the protocol. By the measurement of the specific disease-associated enzymes (plus blood chitotriosidase and urinary glycosaminoglycans) we analyzed 834 de-identified DBS of unselected newborns. No positive case was detected, and the false-positive rates were low. Taking into consideration the limitations of this methodology, we believe that, after defining proper cutoffs, it could be a viable alternative to provide NBS for LSDs by laboratories that may not be able to afford the commercial methods available.

CONTEXTUALIZAÇÃO: Dentre as funções dos músculos do assoalho pélvico (MAPs), pode-se citar a manutenção da continência, sendo que sua disfunção pode causar a incontinência urinária (IU), muito frequente no período gestacional e no puerpério. Diante disso, se faz importante o treinamento dos músculos do assoalho pélvico (TMAP) durante o período gestacional, entretanto grande parte das mulheres realiza a contração dessa musculatura de maneira insatisfatória. OBJETIVOS: Realizar uma análise exploratória dos resultados de três sessões de biofeedback na atividade eletromiográfica em mulheres gestantes. MÉTODOS: Este estudo incluiu 19 gestantes nulíparas com gravidez de baixo risco. Foram realizadas três sessões de biofeedback eletromiográfico compostas por contrações lentas e rápidas, utilizando-se como método de avaliação dos resultados as médias das amplitudes normalizadas da eletromiografia (EMG) de superfície. Para a análise estatística, utilizou-se o modelo de regressão linear com efeitos mistos, sendo que os dados da EMG foram normalizados pela contração voluntária máxima (CVM). RESULTADOS: Após as sessões de biofeedback, constatou-se um aumento crescente na amplitude eletromiográfica a cada contração realizada e a cada sessão, entretanto essa diferença só foi estatisticamente significante para a comparação entre a primeira contração tônica de cada sessão (p=0.03). CONCLUSÕES: Os resultados obtidos indicam que três sessões de treinamento com biofeedback melhoraram a atividade eletromiográfica dos MAPs em gestantes de baixo risco no segundo trimestre. A efetividade do protocolo necessita ser futuramente investigada em estudo randomizado controlado.

BACKGROUND: Maintaining continence is among the functions of the pelvic floor muscles (PFM) and their dysfunction can cause urinary incontinence (UI), which is a common occurrence during pregnancy and the puerperal period. Pelvic floor muscle training (PFMT), therefore, is important during pregnancy, although most women perform the muscle contractions unsatisfactorily. OBJECTIVES: This study is an exploratory analysis of the results of three electromyographic (EMG) activity biofeedback sessions in pregnant women. METHODS: The study sample included 19 nulliparous women with low risk pregnancies. The participants performed three sessions of EMG biofeedback consisting of slow and fast contractions. The average value of the normalized amplitudes of surface electromyography was used to evaluate the results. The linear regression model with mixed effects was used for statistical analysis, with the EMG data normalized by maximum voluntary contraction (MVC). RESULTS: A steady increase in EMG amplitude was observed during each contraction and by the end of the biofeedback sessions, although this difference was only significant when comparing the first tonic contraction of each session (p=0.03). CONCLUSIONS: The results indicate that three sessions of training with biofeedback improved PFM EMG activity during the second trimester in women with low-risk pregnancies. The effectiveness of this protocol should be further investigated in randomized controlled trials.