Jornal de pediatria最新文献

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.

Results: Eighty-one patients were included, of whom 7 died during follow-up. Of the remaining 74 patients, 5.4 % were classified as pre-symptomatic, 24.3 % with SMA type 1, 28.4 % with type 2, 36.5 % with type 3, and 5.4 % with type 4. The mean follow-up time ranged from 1.8 years for pre-symptomatic cases to 8.7 years for SMA types 2 and 3. Approximately 42 % of these patients received specific disease-modifying therapy, of these, 96.8 % received Nusinersen, with 19.4 % transitioning to gene therapy using Onasemnogene Abeparvovec, and 6.4 % starting Risdiplam. Most patients with SMA type 1 were on disease-modifying treatment, whereas only slightly over a third of patients with type 2 and about 10 % of type 3 were receiving such treatments. Among treated patients, 80 % demonstrated improvement in motor performance during the follow-up, with a lesser therapeutic response being associated with late initiation of treatment and low motor function scores at baseline.

Conclusion: This real-world study reinforces the effectiveness of disease-modifying therapies for SMA in Brazil within the context of low- and middle-income countries, which is greater the earlier and the better the patient's functional status.

Objective: Investigate the association between the age of treatment onset and confirmatory TSH level (as an indicator of severity) with a greater risk of developmental delay in infants with congenital hypothyroidism (CH).

Method: The authors conducted a cross-sectional, observational, unmatched case-control study at a Brazilian neonatal screening reference center. Seventy-seven infants with CH (mean age: 12 ± 6.4 months) were examined. The authors evaluated their performance using the Bayley-III Screening Test and categorized them as "LOWER RISK" (competent category) or "GREATER RISK" (combined at-risk + emergent categories) for developmental delay based on the 25^th percentile cutoff.

Results: Infants with CH are at a higher risk of non-competent performance in cognition, receptive language, fine motor skills, and gross motor skills when compared to infants without CH. This risk is more pronounced in infants with more severe indications of CH (TSH > 30 μUI/L in the confirmatory test) for cognition (OR = 5.64; p = 0.01), receptive language (OR = 14.68; p = 0.000), fine motor skills (OR = 8.25; p = 0.000), and gross motor skills (OR = 5.00; p = 0.011).

Conclusion: The level of TSH in the confirmatory test can be a good indicator for identifying infants with CH who are at a higher risk of non-competent performance in cognition, receptive language, and motor skills. Monitoring development, early detection of delays, and intervention programs are particularly important for infants with CH.

Objectives: Septo-optic dysplasia (SOD) is a relatively rare clinical condition. However, there has been a significant increase in its incidence over the years. Diagnosis is clinical and made when there are at least 2 components of the classic triad: Optic nerve hypoplasia (ONH), midline malformation, and pituitary dysfunction. This study aims to describe the clinical and complementary exam characteristics of patients with SOD.

Methods: A retrospective study of review of medical records of 48 patients cohort (24 female) with SOD followed to 2023.

Results: The average age at diagnosis was 3.90 ± 3.85 years. Maternal age was ≤ 25 years at the time of delivery in 50% (24/48) of cases. Visual and developmental impairment was observed in 21 (43.7%) and nystagmus in 15 patients. Fourteen of them developed short stature. Regarding the diagnostic criteria for SOD: 92.6% (38/41) had ONH (78.9% bilaterally), 95.3% (41/43) had structural midline abnormalities, 85.7% (24/28) had hypothalamic-pituitary region alterations, and 73% had at least one hormonal deficiency, of which 2/3 had multiple pituitary dysfunctions. The most frequent deficiencies were thyroid-stimulating hormone and growth hormone, and the average age at diagnosis of the first dysfunction was 4.25 ± 3.71 years.

Conclusion: Clinical manifestations that most led to early suspicion were developmental delay, nystagmus and visual impairment. More than 1/3 of the patients had the complete triad and 2/3 developed multiple pituitary deficiencies, with TSH deficiency being the most prevalent followed by GH deficiency. Patients with ONH or midline structural changes should undergo endocrine evaluation.

Objective: The aim of this study was to assess whether the micronutrients zinc and copper, provided by human milk additives, are sufficient for very low birth weight preterm infants.

Method: A phase 1 randomized double-blind controlled trial was conducted with very low birth weight preterm infants. This is a secondary analysis of copper and zinc. Sixty-six newborns were part of the initial sample, with forty participating and reaching the final stage of the study. Inclusion criteria were: gestational age less than 37 weeks, birth weight greater than or equal to 750 g and less than or equal to 1500 g, small or appropriate for gestational age, exclusively receiving human milk at a volume greater than or equal to 100 mL per kilogram per day, and hemodynamically stable. Participants were randomly assigned to two groups: intervention, Lioneo (received human milk with additive based on lyophilized human milk), n = 20, and control, HMCA (received human milk with commercial additive based on cow's milk protein), n = 20, and their serum levels of zinc and copper were measured on the first and twenty-first days.

Results: There was a reduction in intragroup zinc serum levels from the first to the twenty-first day of the study (p < 0.01). There was no intergroup difference. No difference was found in serum copper levels.

Conclusion: Human milk additives were not sufficient to maintain adequate zinc serum levels in very low birth weight newborns. It was not possible to affirm whether human milk additives were sufficient to maintain adequate serum copper levels in the studied sample. UTN: U1111-1220-0550.

Objective: Assess the occurrence of vaccine hesitancy among pediatricians and their patients and identify potential predictors to mitigate hesitancy among them.

Methods: The study is a cross-sectional survey using an online questionnaire sent to pediatricians affiliated with the Brazilian Society of Pediatrics. The data was analyzed using statistical methods such as exploratory factor analysis, principal component analysis, correspondence analysis, and generalized linear mixed models.

Results: A total of 982 respondents, with a majority being females (77.4%), participated in the research. Among them, the proportion of pediatricians with complete vaccine status was 41.14%, while 90.6% had undergone medical residency. Furthermore, 9.3% worked in public healthcare settings, 30.4% in private settings, and 60.3% in mixed healthcare settings. The analysis revealed a significant association between vaccine status and pediatricians' misconceptions about COVID-19 vaccines, with those having complete vaccine status showing lower misconceptions (mean difference of -0.15, p = 0.010). Moreover, pediatricians with medical residency experience exhibited fewer misconceptions about COVID-19 vaccines (mean difference of -0.33, p = 0.002). Additionally, correspondence analysis unveiled the presence of two distinct profiles among pediatricians, showcasing variations in vaccine education, professional experience, and vaccine confidence perceptions.

Conclusion: The study highlights the influence of vaccine status and medical residency experience on pediatricians' attitudes and misconceptions about vaccines, emphasizing the need for targeted educational interventions to promote vaccine confidence and combat hesitancy within the healthcare provider community.

Objective: To compare the perinatal outcomes of women with Gestational Diabetes Mellitus (GDM), between pregnant treated only with lifestyle changes and pregnant treated with insulin and lifestyle changes.

Methods: Prospective cohort study with follow-up of 64 women with GDM during the prenatal care and postpartum period until hospital discharge, divided into a control group (43) and an insulin group (21), with collection of sociodemographic, clinical, glycemic control and perinatal outcome data. Fetal macrosomia (≥ 4 Kg), or large-for-gestational-age newborns were considered the primary outcome of the research.

Results: Pre-pregnancy BMI (31.2 ± 3.9 versus 28.8 ± 5.5), diastolic blood pressure (75 ± 8.7 versus 69 ± 6.9) and postprandial blood glucose (136.6 versus 115.4) ​​were higher in the insulin group, respectively. The control group had an average birth weight of 3058 g and an incidence of preterm birth of 11.6 %, while the insulin group had an average birth weight of 3203 g, with an incidence of preterm birth of 4.8 %. The majority of newborns had an adequate weight for their gestational age. Even all participants met glycemic goals, in the insulin group the Apgar score at the 5th minute and exclusive breastfeeding was lower, had 100 % of resuscitation cases, and a longer inpatient period.

Conclusion: These data reinforce that even during prenatal care with lifestyle changes, newborns of women with GDM treated with insulin had worse outcomes, including clinical complications and less exclusive breastfeeding. It is important in prenatal care to identify neonates with risk for prevention and health promotion measures.

Objective: Langerhans cell histiocytosis (LCH) is a rare myeloid neoplasm with inflammatory characteristics. This study aims to investigate the correlation between sCD25 levels and clinical characteristics, as well as prognosis, in pediatric LCH.

Methods: Serum sCD25 levels were measured in 370 LCH patients under 18 years old using ELISA assays. The patients were divided into two cohorts based on different treatment regimens. We further assessed the predictive value for the prognosis impact of sCD25 in a test cohort, which was validated in the independent validation cohort.

Results: The median serum sCD25 level at diagnosis was 3908 pg/ml (range: 231-44 000pg/ml). sCD25 level was significantly higher in multi-system and risk organ positive (MS RO⁺) LCH patients compared to single-system(SS) LCH patients (p < 0.001). Patients with elevated sCD25 were more likely to have involvement of risk organs, skin, lung, lymph nodes, or pituitary (all p < 0.05). sCD25 level could predict LCH progression and relapse, with an area under the ROC curve of 60.6 %. The optimal cutoff value was determined at 2921 pg/ml. Patients in the high-sCD25 group had significantly worse progression-free survival compared to those in the low-sCD25 group (p < 0.05).

Conclusion: Elevated serum sCD25 level at initial diagnosis was associated with high-risk clinical features and worse prognosis. sCD25 level can predict the progression/recurrence of LCH following first-line chemotherapy.

Objective: This study aimed to investigate the epidemiological trends of Pediatric Sickle Cell Disease (SCD) in Brazil over the period 2008-2022, with a focus on understanding the incidence, mortality rates, and associated healthcare costs. The study explored potential associations between patient characteristics and the occurrence of crises in pediatric SCD cases.

Methods: A cross-sectional study was conducted, analyzing national annual rates of pediatric SCD hospitalizations using data from the FioCruz platform. Descriptive and inferential analyses, including time series and ARIMA regression, were employed. Economic dimensions were assessed using cost categorization. The study followed STROBE reporting guidelines.

Results: Data on 81,942 pediatric SCD hospitalizations were collected, with a predominance of crisis-related cases (74.08 %). Males and children under five years old were most affected. Regional disparities were observed, with the Southwest region recording the highest hospitalization rates. ICU costs were higher for crisis-related hospitalizations. Mortality rates were significantly higher for crisis-related cases (p < 0.001), with ARIMA regression indicating a significant association between hospitalizations for crisis-related cases and mortality.

Conclusion: This study highlights the significant burden of pediatric SCD in Brazil, particularly crisis-related cases, suggesting a need for focused interventions. By prioritizing early detection, equitable access to healthcare, and evidence-based interventions, Brazil can mitigate the burden of SCD and improve patient outcomes. These findings contribute to informing public health policies and interventions aimed at addressing the challenges of pediatric SCD management in Brazil.

Objective: Emergence delirium is frequently observed in pediatric patients. With advancements in video-based interventions, such as cartoons, video games, and virtual reality, these modalities may contribute to a reduced incidence of emergency delirium among children. However, robust evidence supporting their efficacy remains necessary.

Methods: The authors conducted a systematic search across multiple databases, including Embase, MEDLINE, and Cochrane Library, to identify all randomized controlled trials comparing video-based interventions with control treatments in pediatric emergence delirium. Data were aggregated and analyzed using Review Manager 5.4 to evaluate the effectiveness of video-based interventions.

Results: The analysis included eight randomized controlled trials comprising 872 children. The intervention group showed a trend toward lower Pediatric Anesthesia Emergence Delirium scores (p = 0.10) and fewer emergence delirium events (p = 0.52). Seven studies demonstrated that video-based interventions significantly reduced preoperative anxiety, as indicated by decreased scores on the modified Yale Pre-operative Anxiety Scale (p < 0.00001). Anesthesia duration did not significantly differ between the intervention and control groups (p = 0.16). Notably, subgroup analyses revealed a significant reduction in Pediatric Anesthesia Emergence Delirium scores among children under seven years of age (p = 0.001).

Conclusions: Video-based interventions were linked to lower Pediatric Anesthesia Emergence Delirium scores and a decreased incidence of emergence delirium events. However, these results did not reach statistical significance across the broader sample. Notably, in children under seven, these interventions significantly reduced the scores.

Level of evidence: III.