Clinicogenetic characterization and response to disease-modifying therapies in spinal muscular atrophy: real-world experience from a reference center in Southern Brazil.

Objective: Spinal Muscular Atrophy linked to chromosome 5q (SMA) is an autosomal recessive neurodegenerative disease characterized by progressive proximal muscle atrophy and weakness. This study addresses the scarcity of research on novel disease-modifying therapies for SMA in Latin America by reporting a real-world experience in Southern Brazil.

Methodology: This is a single-center historical cohort that included all patients diagnosed with spinal muscular atrophy at a Regional Reference Service for rare diseases.

Prevalence of muscle atrophy in pediatric patients during ICU hospitalization.

To evaluate the muscle thickness and prevalence of muscle atrophy of the biceps brachii/brachialis (BB) and quadriceps femoris (QF) in critically ill children using ultrasound (US). The prospective longitudinal study was conducted in the pediatric intensive care unit (PICU) of a tertiary hospital in southern Brazil with children and adolescents of both sexes, aged 1 month to 12 years, on invasive mechanical ventilation for 24 h. US measurements were taken up to 24 h after admission, 72 h after, and weekly until discharge from the PICU.

Geographic variation of mutagenic exposures in kidney cancer genomes.

International differences in the incidence of many cancer types indicate the existence of carcinogen exposures that have not yet been identified by conventional epidemiology make a substantial contribution to cancer burden. In clear cell renal cell carcinoma, obesity, hypertension and tobacco smoking are risk factors, but they do not explain the geographical variation in its incidence. Underlying causes can be inferred by sequencing the genomes of cancers from populations with different incidence rates and detecting differences in patterns of somatic mutations.

Predictive factors for premature birth and respiratory exacerbation in pregnancies of women with cystic fibrosis.

Objective: In this present study, the authors evaluated the predictive factors for adverse maternal-fetal outcomes in pregnancies of women with cystic fibrosis (CF). Patients were followed up by a referral center for adults in southern Brazil.

Methods: This is a retrospective cohort study that used data from electronic medical records regarding pregnancies of women diagnosed with CF.

HOSPITAL PHYSICAL THERAPY MANAGEMENT IN PEDIATRIC PATIENTS WITH COVID-19: CASE REPORTS.

Objective: To report the physiotherapeutic management of two pediatric cases with COVID-19 admitted in a reference state hospital to treat the disease in Porto Alegre, Southern Brazil.

Cases Description: Case 1, female, 10-month-old child, pre-existing chronic disease, hospitalized since birth, mechanical ventilation dependency via tracheotomy, progressed with hypoxemia, requiring oxygen therapy, and increased ventilator parameters, and a diagnosis of COVID-19 was confirmed. Airway clearance and pulmonary expansion maintenance therapies were performed.

Functional deficit in children with congenital heart disease undergoing surgical correction after intensive care unit discharge.

Objective: To evaluate the functional status of pediatric patients undergoing congenital heart surgery after discharge from the intensive care unit, and to evaluate the correlations among clinical variables, functional status and surgical risk.

Methods: Cross-sectional study including patients aged 1 month to less than 18 years undergoing congenital heart surgery between October 2017 and May 2018. Functional outcome was assessed by the Functional Status Scale, surgical risk classification was determined using the Risk Adjustment for Congenital Heart Surgery-1 (RACHS-1), and clinical variables were collected from electronic medical records.

Challenges and perspectives in porcine model of acute lung injury using oleic acid.

The oleic acid (OA) models of lung injury try to simulate the findings of human Acute Respiratory Distress Syndrome (ARDS). However, these models are difficult to replicate because they vary in terms of animals species, OA doses, time for establishment of lung injury, different observation periods and settings of mechanical ventilation. The objective of this study was to evaluate a protocol of administration of OA in lung injury model, challenges in its development and its effects on respiratory mechanics, hemodynamic changes, histology, gas exchange and mortality.

Functional Status Scale: Cross-Cultural Adaptation and Validation in Brazil.

Objective: The goal of the present study was to perform a cross-cultural adaptation and clinical validation of the Functional Status Scale for use in the Brazilian population.

Design: Cross-cultural adaptation study followed by a cross-sectional validation study.

Setting: Single-center PICU at a hospital in Porto Alegre, Brazil.

Early mobilization protocols for critically ill pediatric patients: systematic review.

Objective: To describe the existing early mobilization protocols in pediatric intensive care units.

Methods: A systematic literature review was performed using the databases MEDLINE®, Embase, SciELO, LILACS and PeDRO, without restrictions of date and language. Observational and randomized and nonrandomized clinical trials that described an early mobilization program in patients aged between 29 days and 18 years admitted to the pediatric intensive care unit were included.

Effect of vaporized perfluorocarbon on oxidative stress during the cold ischemia phase of lung graft preservation.

Liquid perfluorocarbon (PFC) instillation has been studied experimentally as an adjuvant therapy in the preservation of lung grafts during cold ischemia. The objective of this study was to evaluate whether vaporized PFC is also protective of lung grafts at different cold ischemia times. We performed histological analysis of and measured oxidative stress in the lungs of animals that received only preservation solution with low-potassium dextran (LPD) or vaporized PFC together with LPD.

Functional evaluation of pediatric patients after discharge from the intensive care unit using the Functional Status Scale.

Objective: To evaluate the functional status of pediatric patients after discharge from the pediatric intensive care unit using the Functional Status Scale and to compare the time of invasive mechanical ventilation, length of stay in the pediatric intensive care unit, and Pediatric Index of Mortality 2 results among individuals with different degrees of functional impairment.

Methods: A cross-sectional study was conducted on patients who were discharged from a pediatric intensive care unit. The functional evaluation by the Functional Status Scale was performed on the first day after discharge from the unit, and the Pediatric Index of Mortality 2 was used to predict the mortality rate at the time of admission to the pediatric intensive care unit.

Oxidative Stress and Lung Ischemia-Reperfusion Injury.

Ischemia-reperfusion (IR) injury is directly related to the formation of reactive oxygen species (ROS), endothelial cell injury, increased vascular permeability, and the activation of neutrophils and platelets, cytokines, and the complement system. Several studies have confirmed the destructiveness of the toxic oxygen metabolites produced and their role in the pathophysiology of different processes, such as oxygen poisoning, inflammation, and ischemic injury. Due to the different degrees of tissue damage resulting from the process of ischemia and subsequent reperfusion, several studies in animal models have focused on the prevention of IR injury and methods of lung protection.

Assessment of functional capacity and pulmonary in pediatrics patients renal transplantation.

Introduction: Pediatric patients undergoing kidney transplantation can present changes in pulmonary function and functional capacity for exercise.

Objective: To evaluate the functional capacity and pulmonary function in children and adolescents undergoing kidney transplantation.

Method: Children and adolescents aged six to 18 years of age were evaluated in Outpatient Clinic of Nephrology, Hospital da Criança Santo Antônio, Santa Casa de Porto Alegre, RS, Brazil in period the june of 2010 the march of 2011.

A comparative analysis of pelvic floor muscle strength in women with stress and urge urinary incontinence.

Aims: To assess pelvic floor muscle (PFM) strength in women with stress urinary incontinence (SUI) and urge urinary incontinence (UUI).

Materials And Methods: 51 women were prospectively divided into two groups, according to the symptoms as SUI (G1 = 22) or UUI (G2 = 29). Demographic data, such as number of pads/ 24 hours, number of micturations/ 24 hours and nocturia, delay time of urgent void (i.