Resumo em Inglês:

Abstract Objective: Lysosomal acid lipase deficiency (LAL-D) is an underdiagnosed autosomal recessive disease with onset between the first years of life and adulthood. Early diagnosis is crucial for effective therapy and long-term survival. The objective of this article is to recognize warning signs among the clinical and laboratory characteristics of LAL-D in pediatric patients through a scope review. Sources: Electronic searches in the Embase, PubMed, Livivo, LILACS, Web of Science, Scopus, Google Scholar, Open Gray, and ProQuest Dissertations and Theses databases. The dataset included observational studies with clinical and laboratory characteristics of infants, children and adolescents diagnosed with lysosomal acid lipase deficiency by enzyme activity testing or analysis of mutations in the lysosomal acid lipase gene (LIPA). The reference selection process was performed in two stages. The references were selected by two authors, and the data were extracted in June 2020. Summary of the findings: The initial search returned 1593 studies, and the final selection included 108 studies from 30 countries encompassing 206 patients, including individuals with Wolman disease and cholesteryl ester storage disease (CESD). The most prevalent manifestations in both spectra of the disease were hepatomegaly, splenomegaly, anemia, dyslipidemia, and elevated transaminases. Conclusions: Vomiting, diarrhea, jaundice, and splenomegaly may be correlated, and may serve as a starting point for investigating LAL-D. Familial lymphohistiocytosis should be part of the differential diagnosis with LAL-D, and all patients undergoing upper gastrointestinal endoscopy should be submitted to intestinal biopsy.

Resumo em Inglês:

Abstract Objectives: Dexmedetomidine (DEX) is a highly selective alpha-2 adrenergic receptor agonist, which is the main sedative in the intensive care unit. This study aims to investigate the effectiveness and adverse events of DEX in maintaining hemodynamic stability in pediatric cardiac surgery. Sources: Databases such as PubMed, Cochrane, Web of Science, WANFANG STATA and China National Knowledge Infrastructure were searched for articles about the application of DEX in maintaining hemodynamic stability during and after pediatric cardiac surgery up to 18th Feb. 2021. Only randomized controlled trials were included and random-effects model meta-analysis was applied to calculate the standardized mean deviation (SMD), odds ratio (OR) and 95% confidence interval (CI). Summary of the findings: Fifteen articles were included for this meta-analysis, and 9 articles for qualitative analysis. The results showed that preoperative prophylaxis and postoperative recovery of DEX in pediatric patients undergoing cardiac surgery were effective in maintaining systolic blood pressure (SBP), mean arterial pressure (MAP), diastolic blood pressure (DBP) and reducing heart rate (HR) (SBP: SMD = -0.35,95% CI: -0.72, 0.01; MAP: SMD = -0.83, 95% CI: -1.87,0.21; DBP: SMD = -0.79,95% CI: -1.66,0.08; HR: SMD = -1.71,95% CI: -2.29, -1.13). In addition, the frequency of Junctional Ectopic Tachycardia in the DEX treatment group was lower than that in the placebo group. Conclusions: The application of DEX for preoperative prophylaxis and postoperative recovery in pediatric cardiac surgery patients are effective in maintaining hemodynamic stability, and the clinical dose of DEX is not significantly related to the occurrence of pediatric adverse events which may be related to individual differences.

Resumo em Inglês:

Abstract Objective: To assess intra- and interobserver agreement among non-expert pathologists in identifying features of the eosinophilic esophagitis histologic scoring system (EoEHSS) in pediatric patients. Patients and methods: The authors used 50 slides from patients (aged 1-15 years; 72% male) with EoE. EoEHSS evaluates eosinophilic inflammation and other features including epithelial basal zone hyperplasia, eosinophilic abscesses, eosinophil surface layering, dilated intercellular spaces, surface epithelial alteration, dyskeratotic epithelial cells, and lamina propria fibrosis. Grade and stage of abnormalities are scored using a 4-point scale (0 normal; 3 maximum change). Four pathologists determined EoEHSS findings on two occasions. Intra- and interobserver agreement was assessed using Kappa (κ) statistics and intra-class correlation coefficients. Results: Intra- and interobserver agreement for the identification of eosinophil counts ≥ 15/high power field (HPF) was excellent, however varied when assessing additional features of the EoEHSS. For the more experienced pathologist, agreement for most EoEHSS items and the composite scores was substantial to excellent. For the less experienced pathologists, intraobserver agreement ranged from absent to substantial for individual features and ranged from moderate to substantial for the composite scores. Conclusion: Most items of the EoEHSS had substantial to excellent reliability when assessed by a pathologist experienced in the diagnosis of EoE but presented lower repeatability among less experienced pathologists. These findings suggest that specific training of pathologists is required for the identification of EoEHSS characteristics beyond eosinophil count, as these features are considered useful in the evaluation of response to treatment and correlation with clinical manifestations and endoscopic findings.

Resumo em Inglês:

Abstract 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. Results: The study included 39 pregnancies related to 20 different women. The main adverse outcomes were high prevalence rates of premature birth (38.5%) and maternal respiratory exacerbation (84.6%). Lower body mass index (BMI) values (< 20.8) and younger ages of CF diagnosis increased the risk of premature birth. The presence of methicillin-resistant and absence of methicillin-sensitive Staphylococcus aureus, as well as a younger age of diagnosis, increased the risk of maternal respiratory exacerbation during pregnancy. Conclusions: Conception in women with CF is often associated with maternal and fetal complications. Continuous monitoring by a multidisciplinary team should emphasize appropriate nutritional status, investigation of bacterial colonization, and immediate attention to respiratory exacerbations.

Resumo em Inglês:

Abstract Objective: To investigate the prevalence and factors associated with no intention to exclusively breastfeed for the first 6 months of life in a sample of women in the first 24 h postpartum during the hospital stay. Methods: Cross-sectional study with data from screening phase of a birth cohort. The proportion of mothers who did not intend to breastfeed exclusively for 6 months (primary outcome) derived from a negative response to the question “Would you be willing to try to breastfeed exclusively for the first 6 months?”, in an interview conducted by previously trained interviewers. Crude and adjusted prevalence ratios (PR) with 95% confidence intervals were obtained by Poisson regression with robust variance. Results: A total of 2964 postpartum women were interviewed. The overall prevalence of mothers who did not intend to breastfeed exclusively for 6 months was 17.8% (16.4–19.1%). After adjusting for maternal age and type of pregnancy (singleton or multiple), no intention to exclusively breastfeed was higher in mothers with a monthly household income < 3 minimum wages (PR, 1.64; 1.35–1.98) and in those who intended to smoke 4–7 days/week after delivery (PR, 1.42; 1.11–1.83). The presence of significant newborn morbidity (PR, 0.32; 0.19–0.54) and intention to breastfeed up to 12 months (PR, 0.46; 0.38–0.55) had a protective effect against not intending to breastfeed exclusively for 6 months. Conclusions: Approximately 1 in every 5 mothers did not intend to breastfeed exclusively for 6 months. Strategies aimed at promoting exclusive breastfeeding should focus attention on mothers from lower economic strata and smokers.

Resumo em Inglês:

Abstract Objective: Developing and validating a disease-specific instrument in the Brazilian Portuguese language to assess the Health-Related Quality of Life of children with functional constipation, applied to parents/caregivers. Methods: The process of developing the questionnaire was carried out in the following steps: items generation concerning functional constipation; elaboration of the preliminary questionnaire; assessment by health professionals; identifying problems or inconsistencies by the researchers; improvement of the questions; obtaining a final questionnaire named Pediatric Functional Constipation Questionnaire-Parent Form (PedFCQuest-PR) with 26 questions divided into four domains. Responses options use a Likert scale based on the events of the last four weeks. The process of validation was an observational, cross-sectional study in a sample of 87 parents/caregivers of children from 5 to 15 years of age diagnosed with Functional constipation according to the Rome IV Criteria. The questionnaire was applied simultaneously to the Pediatric Quality of Life Inventory 4.0 (PedsQL TM 4.0) as a control. Results: The questionnaire validation included 87 parents/caregivers. The children’s median age was 8.2 years, with a long time of constipation symptoms associated with fecal incontinence in approximately two-thirds. Internal consistency reliability for the Total Scale Score of PedFC-Quest-PR by Coefficient Alpha of Cronbach score was 0.86. Convergent and divergent validity of PedFCQuest-PR was demonstrated by correlating the domains of both questionnaires. Conclusion: This study provides evidence that PedFCQuest-PR is a reliable instrument. The results showed a high degree of internal consistency and validity of the instrument for future applications.

Resumo em Inglês:

Abstract Objective: To investigate the association between oral contraceptive use and cardiovascular risks, including metabolic syndrome and their components in Brazilian adolescents. Method: This study used data from the Study of Cardiovascular Risks in Adolescents (Estudo de Riscos Cardiovasculares em Adolescentes - ERICA), a nationwide, cross-sectional, school-based study with individuals aged 12-17 years. Sociodemographic variables and OC use were assessed by a self-administered questionnaire. International Diabetes Federation criteria were used to define metabolic syndrome. Descriptive statistics were reported as prevalence and their respective confidence interval of 95% of oral contraceptives according to variables. Logistic regression was performed. Crude and adjusted odds ratios were calculated. Results: This subsample was composed of 22,682 female adolescents, of which 12.65% reported using oral contraceptives and their use was associated with hypertension and hypertriglyceridemia. These associations remained statistically significant after adjusting for age, school region, race, and tobacco use with an increase of 2.68 (1.66 - 4.32) and 3.45 (2.56 - 4.65) times, respectively. Conclusion: The present study was the first to examine the association between the use of oral contraceptives and cardiovascular risk factors among the largest number of female Brazilian adolescents. This method was significantly associated with hypertension, hypertriglyceridemia. Teenagers using oral contraceptives should be monitored for side effects, including blood pressure measurements and advised to avoid smoking.

Resumo em Inglês:

Abstract Objective: This longitudinal study aimed to verify possible changes in the time spent in sedentary activities occurring as screen-time, educational, cultural, social, and transportation domains in a sample of Brazilian adolescents between 2015 and 2017. Methods: It is a longitudinal prospective study with 586 adolescents from 12 to 15 years old at the Baseline (2015) enrolled in 14 public schools from Curitiba, Brazil. The Adolescent Sedentary Activity Questionnaire assessed the time spent in sedentary activities in five domains (recreational screen-time, educational, cultural, social, and transportation). A series of linear random effects regressions analyzed changes in the sedentary time between 2015 and 2017, with p < .05. Results: Overall, 323 adolescents dropped out of the study resulting in a retention rate of 44.9%. The overall sedentary time remained stable from 2015 to 2017 (-3.98 min/day, 95%CI: -15.39; 7.42). The screen-time decreased (-22.22 min/day, 95%CI: -30.30; -14.15), and educational (8.29 min/day, 95% CI: 3.52; 13.06), cultural (3.41 min/day, 95% CI: 0.66; 6.15) and social sedentary activities (8.20 min/day, 95% CI: 2.06; 14.34) increased from 2015 to 2017. Conclusion: Significant reductions in screen-time were evidenced along with increases in time spent on other sedentary activities of educational, cultural, and social nature.

Resumo em Inglês:

Abstract Objective: To analyze gastroschisis annual incidence, mortality rates, and trends in the Brazilian state of Rio Grande do Sul from the year 2000 to the year 2017. Method: Population-based study with the analysis of the temporal trend of gastroschisis annual incidence and mortality rates. Data were obtained from the Live Birth Information System and the Mortality Information System, with the analysis performed by polynomial regression modeling. Results: There were 2,612,532 live births, 705 hospitalizations, and 233 deaths due to gastroschisis. The annual incidence of gastroschisis was 2.69 per 10,000 live births. The annual incidence rate increased by 85% in the total period (p = 0.003), and mortality was 33% in the 2000-2017 period. Maternal age < 25 years was a risk factor for gastroschisis (p < 0.001). Children were more likely to be born weighing < 2,500 g (p < 0.001) and with a gestational age < 37 weeks (p < 0.001). The annual incidence trend was to increase, and the mortality trend was to decrease. Conclusion: Similar to what has been described in several regions/countries, there was a trend showing an 85% increase in the annual incidence of gastroschisis (p = 0.003) and the mortality was 33% with a trend of decreasing (p = 0.002).

Resumo em Inglês:

Abstract Objective: To determine the prevalence of vitamin A deficiency (VAD) and serum concentrations of retinol, correlating them with IGF-1 concentrations in preschoolers with DS. Methods: Cross-sectional study was conducted on 47 children with DS aged 24 to 72 months, in Ribeirão Preto, Brazil. VAD was determined by the relative dose-response (RDR) test. Retinol serum concentration ≤ 0.70 μmol/L and IGF-1 serum concentration below the 3rd percentile for sex and age were considered to represent deficiency. C-reactive protein (CRP) was determined at the beginning of the study. Weight, height, and information about fever and/or diarrhea were obtained at the beginning of the study. Results: VAD prevalence was 25.5% (12/47), and 74.5% (35/47) of the children had deficient retinol before the intervention. CRP was not associated with VAD. Mean IGF-1 were 103.5 ng/mL (SD = 913) for the group with VAD and 116.3 ng/mL (SD = 54.9) for the group with no VAD (p-value = 0.85); 8.5% (4/47) of the children showed deficient IGF-1, but without VAD. No association was observed between VAD and IGF-1 deficiency. A moderate positive correlation was observed between pre-intervention retinol and IGF-1 (ρ = 0.37; p-value = 0.01). Conclusion: a high prevalence of VAD and deficient retinol was observed and there was a positive correlation between serum retinol and IGF-1.

Resumo em Inglês:

Abstract Objective: To validate the Family Health Behavior Scale (FHBS) for Brazilian families. Methods: The sample included 272 children aged 5 to 12 years old. Caregivers and their healthy answered the FHBS and questions about physical activity. In addition, anthropometric measurements of the children’s weight and height were performed, as well as the bioimpedance exam. The scale was translated and the following validities were assessed: content (qualitative analysis and content validity index), construct (factor analysis) and concurrent validity (difference between domains and the total score with the categories of BMI, fat percentage and physical activity). Reliability (Cronbach's alpha, ceiling-floor effect, two-half test, intraclass correlation and Bland – Altman) was also assessed. Results: FHBS instrument performed well with regard to the psychometric properties in the Brazilian population. The content validity index was 0.987. Fit indices of the factor analysis were considered satisfactory, according to Bartlett's sphericity test (χ 2 = 1927, df = 351; p < 0.001) and the Kaiser-Meyer-Olkin index (KMO = 0.789). Concurrent validity, the differences between the mean of the domains and the total score between the categories of BMI (p = 0.011), percentage of fat (0.004) and physical activity (p < 0.001) were all significant. The reliability results were Cronbach's alpha internal consistency = 0.83, adequate ceiling-floor effect, 0.8105 (0.09 SD) two-half test, 0.626 intraclass correlation (95% CI: 0.406 to 0.777) and Bland – Altman -0.840 (-22.76 to 21.07). Conclusion: The FHBS adapted for the Brazilian population showed evidence of adequate psychometric performance.

Resumo em Inglês:

Abstract Objective: To identify the associated factors to loneliness among Brazilian adolescents, considering this is a knowledge gap and given its severity. The United Nations estimates that mental health problems affect approximately 20% of adolescents worldwide. Methods: This is a cross-sectional study with data from the National Adolescent School-based Health Survey 2015, conducted with students aged 13–17 in Brazil. The statistical analysis was performed with the calculation of the prevalence of feeling loneliness reported. Poisson regression with the adjusted Prevalence Ratio was used to evaluate the association between sociodemographic characteristics, family context, mental health and lifestyles, and feelings of loneliness. Results: 15,5% of Brazilian students reported loneliness in the last 12 months. Female gender, higher maternal education, insomnia and be bullying victims rarely or sometimes and most of the time or always had a higher prevalence rate of loneliness. Having friends, having a meal with parents or guardians 5 days or more a week and having understanding parents showed a lower prevalence ratio for loneliness. Conclusion: Loneliness feeling is frequent among adolescents and is associated with female gender, less social and family support, intra-family violence and risk behaviors such as alcohol consumption and bullying. Policies to promote physical and mental well-being in this age group, stimulating friendship and family participation in the lives of adolescents should be made.

Resumo em Inglês:

Abstract Objective: In this study, the authors aimed to evaluate the effectiveness of the vena cava distensibility index and pulse pressure variation as dynamic parameters for estimating intravascular volume in critically ill children. Methods: Patients aged 1 month to 18 years, who were hospitalized in the present study’s pediatric intensive care unit, were included in the study. The patients were divided into two groups according to central venous pressure: hypovolemic (< 8mmHg) and non-hypovolemic (central venous pressure ≥ 8 mmHg) groups. In both groups, vena cava distensibility index was measured using bedside ultrasound and pulse pressure variation. Measurements were recorded and evaluated under arterial monitoring. Results: In total, 19 (47.5%) of the 40 subjects included in the study were assigned to the central venous pressure ≥ 8 mmHg group, and 21 (52.5%) to the central venous pressure < 8 mmHg group. A moderate positive correlation was found between pulse pressure variation and vena cava distensibility index (r = 0.475, p < 0.01), while there were strong negative correlations of central venous pressure with pulse pressure variation and vena cava distensibility index (r = –0.628, p < 0.001 and r = -0.760, p < 0.001, respectively). In terms of predicting hypovolemia, the predictive power for vena cava distensibility index was > 16% (sensitivity, 90.5%; specificity, 94.7%) and that for pulse pressure variation was > 14% (sensitivity, 71.4%; specificity, 89.5%). Conclusion: Vena cava distensibility index has higher sensitivity and specificity than pulse pressure variation for estimating intravascular volume, along with the advantage of non-invasive bedside application.

Resumo em Inglês:

Abstract Objective: To estimate the prevalence and factors associated with overweight/obesity development in adolescents with early diagnosed phenylketonuria treated exclusively by diet. Methodology: In this cross-sectional study anthropometric measurements, serum phenylalanine levels, and 10 metabolites associated with lipid and carbohydrate metabolism were analyzed in 101 adolescents aged 10–20 years. Adolescents were categorized into overweight/obesity and eutrophic/low body mass index groups. These patients were compared using Student’s t-test, Pearson’s chi-square test, Wald’s chi-square test for multivariate analysis. Further, to verify whether the prevalence of overweight/obesity found in the study population was similar to that in the general population, the authors compared the nutritional status of 46 patients aged 13–17 years with that of healthy students of the same age from the National School Health Survey using the chi-square test for adherence. The significance threshold was p < 0.5. Results: The prevalence of overweight/obesity in adolescents was 27.7%. There was no difference in prevalence between sexes. Older age was a protective factor and Increased Homeostasis Model Assessment Insulin Resistance index and high phenylalanine and low-density lipoprotein cholesterol levels were predictive factors for overweight/obesity. The equality hypothesis was not rejected in the comparison of nutritional states of 46 patients aged 13–17 years and healthy students of the same age. Conclusion: The prevalence of overweight/obesity in phenylketonuria adolescents was similar to what is found in healthy adolescents.