A beneficial effect from music was observed with children during the postoperative period of heart surgery, by means of certain vital signs (heart rate and respiratory rate) and in reduced pain (facial pain scale). Nevertheless, there are gaps to be filled in this area, and studies in greater depth are needed.

Pompe disease (glycogen storage disease type II or acid maltase deficiency) is an inherited autosomal recessive deficiency of acid alpha-glucosidase (GAA), with predominant manifestations of skeletal muscle weakness. A broad range of studies have been published focusing on Pompe patients from different countries, but none from Brazil. We investigated 41 patients with either infantile-onset (21 cases) or late-onset (20 cases) disease by muscle pathology, enzyme activity and GAA gene mutation screening. Molecular analyses identified 71 mutant alleles from the probands, nine of which are novel (five missense mutations c.136T> G, c.650C > T, c.1456G > C, c.1834C > T, and c.1905C > A, a splice-site mutation c.1195-2A > G, two deletions c.18_25del and c.2185delC, and one nonsense mutation c.643G > T). Interestingly, the c.1905C > A variant was detected in four unrelated patients and may represent a common Brazilian Pompe mutation. The c.2560C > T severe mutation was frequent in our population suggesting a high prevalence in Brazil. Also, eight out of the 21 infantile-onset patients have two truncating mutations predicted to abrogate protein expression. Of the ten late-onset patients who do not carry the common late-onset intronic mutation c.-32-13T > G, five (from three separate families) carry the recently described intronic mutation, c.-32-3C > A, and one sibpair carries the novel missense mutation c.1781G > C in combination with known severe mutation c.1941C > G. The association of these variants (c.1781G > C and c.-32-3C > A) with late-onset disease suggests that they allow for some residual activity in these patients. Our findings help to characterize Pompe disease in Brazil and support the need for additional studies to define the wide clinical and pathological spectrum observed in this disease.

Objective: To investigate, both objectively and subjectively, the effect of music on children in a pediatric cardiac intensive care unit following heart surgery, in conjunction with standard care.Methods: Randomized clinical trial with placebo, assessing 84 children, aged 1 day to 16 years, during the first 24 hours of the postoperative period, given a 30 minute music therapy session with classical music and observed at the start and end of the session, recording heart rate, blood pressure, mean blood pressure, respiratory rate, temperature and oxygen saturation, plus a facial pain score. Statistical significance was set at 5%.Results: Five of the initial 84 patients (5.9%) refused to participate. The most common type of heart disease was acyanotic congenital with left-right shunt (41% of cases: 44.4% of controls). Statistically significant differences were observed between the two groups after the intervention in the subjective facial pain scale and the objective parameters heart rate and respiratory rate (p < 0.001, p = 0.04 and p = 0.02, respectively).Conclusions: A beneficial effect from music was observed with children during the postoperative period of heart surgery, by means of certain vital signs (heart rate and respiratory rate) and in reduced pain (facial pain scale). Nevertheless, there are gaps to be filled in this area, and studies in greater depth are needed.

We found that surgery undertaken in the neonatal period, weight below the 5th percentile, the presence of associated clinical risk factors, operations of higher complexity, and more than 90 minutes of cardiopulmonary bypass were all significantly associated with mortality. Our suggested new index showed a linear correlation with mortality, and in our current experience, has proved a valuable tool for predicting adverse outcomes.