In the last few decades, there have been considerable improvements in the diagnosis and care of Duchenne muscular dystrophy (DMD), the most common childhood muscular dystrophy. International guidelines have been published and recently reviewed. A group of Brazilian experts has developed a standard of care based on a literature review with evidence-based graded recommendations in a two-part publication. Implementing best practice management has helped change the natural history of this chronic progressive disorder, in which the life expectancy for children of the male sex in the past used to be very limited. Since the previous publication, diagnosis, steroid treatment, rehabilitation, and systemic care have gained more significant insights with new original work in certain fields. Furthermore, the development of new drugs is ongoing, and some interventions have been approved for use in certain countries. Therefore, we have identified the need to review the previous care recommendations for Brazilian patients with DMD. Our objective was to create an evidence-based document that is an update on our previous consensus on those topics.
Objectives: Obstructive sleep apnea (OSA) affects approximately one third of the population and can reach 90% prevalence in the elderly. There are screening tools to track the disease, however, their performance may differ according to population characteristics. This study aims to determine sensitivity, specificity, predictive value, likelihood ratio and accuracy of the Berlin (BQ) and STOP-Bang (S-Bang) questionnaires and the Epworth Sleepiness Scale (ESS), comparing their performances, using polysomnography (PSG) as a gold standard, in a sample of elderly. Methods: The study was cross-sectional, retrospective, included patients aged 60 or older who underwent PSG type 1, regardless of the BQ, S-Bang and ESS results, during the period of June 1, 2017 to April 30, 2019. OSA diagnosis was by PSG in which the hypopnea apnea index was greater than or equal to 5. Results: Sixty-two patients were evaluated; the prevalence of OSA was 72.58%. The mean age in the sample with OSA was 73.0 sd 8.4 years and without it was 74.7 sd 8.1 years. The sample was predominantly female, 58.1% with OSA. The BQ showed the best results for specificity, predictive value, likelihood ratio and accuracy. S-Bang had the best result for sensitivity and ESS showed the worst results. The BQ odds ratio showed that an individual with a positive BQ has 335% more chance of developing OSA. Conclusion: The QB showed the best performance in the measures for identifying OSA, for a sample of elderly individuals, with a predominance of females and a high prevalence of the disease.
Fabry disease (FD) is an X-linked lysosomal storage disorder characterized by reduced or absent activity of the enzyme α-galactosidase A. Due to systemic accumulation of glycolipids, FD phenotype is diverse, and diagnosis may be challenging. Clinical manifestations include small fiber neuropathy, renal dysfunction, cardiac involvement, cerebrovascular disease, among others. In the present study, we describe biopsy proven small fiber neuropathy and subclinical cardiac involvement in two cousins diagnosed with FD secondary to a recently described pathogenic variant, highlighting the importance of diagnostic tools to document organ damage and allow early treatment.
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