Mucopolysaccharidosis I, II, and VI: Brief review and guidelines for treatment

Mucopolysaccharidoses (MPS) are rare genetic diseases caused by the deficiency of one of the lysosomal enzymes involved in the glycosaminoglycan (GAG) breakdown pathway. This metabolic block leads to the accumulation of GAG in various organs and tissues of the affected patients, resulting in a multisystemic clinical picture, sometimes including cognitive impairment. Until the beginning of the XXI century, treatment was mainly supportive. Bone marrow transplantation improved the natural course of the disease in some types of MPS, but the morbidity and mortality restricted its use to selected cases. The identification of the genes involved, the new molecular biology tools and the availability of animal models made it possible to develop specific enzyme replacement therapies (ERT) for these diseases. At present, a great number of Brazilian medical centers from all regions of the country have experience with ERT for MPS I, II, and VI, acquired not only through patient treatment but also in clinical trials. Taking the three types of MPS together, over 200 patients have been treated with ERT in our country. This document summarizes the experience of the professionals involved, along with the data available in the international literature, bringing together and harmonizing the information available on the management of these severe and progressive diseases, thus disclosing new prospects for Brazilian patients affected by these conditions

Lymphatic Filariasis: A Systematic Review on Morbidity and Its Repercussions in Countries in the Americas

The Global Program to Eliminate Lymphatic Filariasis (GPELF) is a program that aims to eliminate lymphatic filariasis by 2030. The GPELF strategy is based on interrupting transmission using mass drug administration (MDA) and, in parallel, managing morbidity cases. However, it has been seen that there is a shortage of research in the literature and public policies regarding this last pillar. In this study, we reviewed the literature and available information regarding the burden of filarial morbidity. In addition, we identified that in the Americas, the implementation of structured services with regard to morbidity assistance in the Americas was scarce. We formed a review that aimed to assess the pathogenesis, epidemiology, repercussions, and treatment of filarial morbidity in countries in the Americas where lymphatic filariasis is endemic. Structured searches were carried out on PubMed, LILACS, Scopus, and Web of Science databases without time and language restrictions. Three reviewers evaluated the 2150 studies and performed data extraction, and quality assessment by assigning scores to the studies found. The current literature and available information on the burden of filarial morbidity, as well as the implementation of structured services with regard to morbidity assistance in the Americas, were all found to be scarce. Now that this knowledge gap has been identified, both health services and researchers need to seek the implementation and enhancement of the maintenance of GPELF strategies that relate to the morbidity pillar

Systematic Review of Survival Analysis in Leprosy Studies—Including the Following Outcomes: Relapse, Impairment of Nerve Function, Reactions and Physical Disability

Leprosy is a public health problem in South American, African and Oceanian countries. National programs need to be evaluated, and the survival analysis model can aid in the construction of new indicators. The aim of this study was to assess the period of time until the outcomes of interest for patients with or exposed to leprosy by means of survival analysis surveys. This review researched articles using the databases of PubMed, Science Direct, Scopus, Scielo and BVS published in English and Portuguese. Twenty-eight articles from Brazil, India, Bangladesh, the Philippines and Indonesia were included. The Kaplan–Meier method, which derives the log-rank test, and Cox’s proportional hazards regression, which obtains the hazard ratio, were applied. The mean follow-up until the following outcomes were: (I) leprosy (2.3 years) in the population who were exposed to it, (II) relapse (5.9 years), (III) clinical manifestations before, during and after treatment—nerve function impairment (5.2 years), leprosy reactions (4.9 years) and physical disability (8.3 years) in the population of patients with leprosy. Therefore, the use of survival analysis will enable the evaluation of national leprosy programs and assist in the decision-making process to face public health problems

Humanizando a assistência intensiva de enfermagem a pessoas com COVID-19

Objective: to understand the impact of music on the intensive care for COVID-19 as an instrument to humanize assistance from the perspective of nurses who work on assistance. Methods: qualitative study carried out with seven intensive care nurses working in the COVID-19 Intensive Care Unit of a public state hospital. Sample reached through theoretical saturation. Data were collected using interviews through the on-line application WhatsApp, guided by a semi-structured guide. Results: the following discursive categories emerged: Feelings of health professionals and humanized actions in intensive care; Music therapy to provide integral care for people with COVID-19 in the score of intensive care; Living in the moment; Music therapy as an instrument for spirituality in the intensive care environment. Conclusion: the nursing intensive care did not only carry out a biological treatment, but considered all aspects of the human being, using to do so humanization by music.Objetivo: compreender o impacto da música na terapia intensiva para COVID-19 como instrumento de humanização da assistência na perspectiva de enfermeiros assistenciais. Métodos: estudo qualitativo realizado com sete enfermeiros intensivistas atuantes em uma Unidade de Terapia Intensiva para COVID-19 de um hospital público estadual. Amostra alcançada por saturação teórica. Para a coleta de dados, utilizou-se entrevista online pelo aplicativo WhatsApp, norteada por um roteiro semiestruturado. Resultados: emergiram as categorias discursivas: Sentimentos dos profissionais de saúde e ações humanizadas no ambiente da terapia intensiva; A musicoterapia proporcionando integralidade da assistência a pessoas com COVID-19 no âmbito da terapia intensiva; Vivenciando o momento; Musicoterapia como instrumento de espiritualidade no ambiente da terapia intensiva. Conclusão: o cuidado intensivo em enfermagem não se deteve apenas ao âmbito biológico, mas incluiu aspectos integrais do ser humano por meio da humanização pela música

Poor Agreement between Responses to the International Physical Activity Questionnaire and Objective ActiGraph® Data among Persons with Major Depressive or Bipolar Disorders

The purpose of this research was to investigate the degree of agreement between data from the International Physical Activity Questionnaire—Short Form (IPAQ) and accelerometer (ActiGraph®) readings for physical activity (PA), classified as moderate, vigorous, and moderate–vigorous PA, and sedentary behavior (SB) in participants with major depressive or bipolar disorder. Following a cross-sectional observational design (n = 30), participants used an accelerometer for 4 to 7 days (minimum of 10 h per day) and answered the IPAQ (for the same period as accelerometer use). Our results suggest significant differences (p < 0.05) when comparing the ActiGraph® and IPAQ data: for moderate PA, 155 min vs. 25 min per week; for moderate–vigorous PA, 157 min vs. 50 min per week; and for SB, 8 h vs. 3 h per day. Spearman’s correlation coefficients (ActiGraph® and IPAQ) were low for moderate PA, vigorous PA, and moderate–vigorous PA (rho = 0.03 to 0.13). The Bland–Altman plot showed a bias of −75 min for moderate PA, 9 min for vigorous PA, −66 min for moderate–vigorous PA, and −5 h for SB. Considering the differences observed and the objectivity of the ActiGraph® measurements, whenever possible, we recommend ActiGraph® measurements of PA and SB for these clinical groups