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Objective: Adverse Childhood Experiences (ACEs) have been associated with negative health outcomes. Screening for ACEs is crucial for improving health results, however, there is a shortage of standardized tools designed for children in Brazilian Portuguese. This study aimed to translate, culturally adapt, and validate the Pediatrics ACES and Related Life Event Screener (PEARLS) for use in Brazil. Method: The study followed a methodological design for cross-cultural adaptation and psycho-metric evaluation. The PEARLS was translated and culturally adapted following a methodology that includes translation, synthesis, expert committee evaluation, target audience evaluation, and back-translation. After adaptation, a pilot cross-sectional study was conducted at a Multidisciplinary Health Care Clinical Center and a General Hospital-Reference Center for Child and Adolescent Care to assess the instrument's internal consistency, convergent validity, content validity and test-retest reliability. Results: The PEARLS-Br versions for Children, Teens, and Teen Self-Report were developed and subjected to pilot testing with 202 subjects. Participants demonstrated excellent comprehension, with Verbal Rating Scale median scores of 4 (IQR 4-5). Internal consistency was high, with Cronbach's alpha coefficients ranging from 0.78 to 0.81. Content validity, assessed by Kappa, indicated slight to almost perfect agreement across constructs. Test-retest reliability, assessed by Spearman's correlation coefficient, ranged from 0.89 to 0.94. Conclusions: PEARLS-BR (Child, teen, and teen self-report versions) were successfully translated, culturally adapted, and validated for assessing ACEs in Brazilian children and adolescents. This tool fills a crucial gap in ACE assessment in the Brazilian context, aligning with global recommendations for screening ACEs to improve overall health outcomes. [ABSTRACT FROM AUTHOR]

Author(s): Lise Allard[sup.1] [sup.2] , Pierre Cochat[sup.3] [sup.4] , Anne-Laure Leclerc[sup.3] [sup.4] , François Cachat[sup.5] , Christine Fichtner[sup.6] , Vandrea Carla De Souza[sup.7] [sup.8] [sup.9] , Clotilde Druck Garcia[sup.9] [sup.10] [...], Background Primary hyperoxaluria type 3 (PH3) is characterized by mutations in the 4-hydroxy-2-oxoglutarate aldolase (HOGA1) gene. PH3 patients are believed to present with a less severe phenotype than those with PH1 and PH2, but the clinical characteristics of PH3 patients have yet to be defined in sufficient detail. The aim of this study was to report our experience with PH3. Methods Genetic analysis of HOGA1 was performed in patients with a high clinical suspicion of PH after the presence of mutations in the alanine-glyoxylate aminotransferase gene had been ruled out. Clinical, biochemical and genetic data of the seven patients identified with HOGA1 mutations were subsequently retrospectively reviewed. Results Among the seven patients identified with HOGA1 mutations the median onset of clinical symptoms was 1.8 (range 0.4-9.8) years. Five patients initially presented with urolithiasis, and two other patients presented with urinary tract infection. All patients experienced persistent hyperoxaluria. Seven mutations were found in HOGA1, including two previously unreported ones, c.834 + 1G > T and c.3G > A. At last follow-up, two patients had impaired renal function based on estimated glomerular filtration rates (GFRs) of 77 and 83 mL/min per 1.73 m.sup.2, respectively. Conclusions We found that the GFR was significantly impaired in two of our seven patients with PH3 diagnosed during childhood. This finding is in contrast to the early-impaired renal function in PH1 and PH2 and appears to refute to preliminary reassuring data on renal function in PH3.

Objective: To determine the incidence of congenital hypothyroidism (CH) over a 10-year period at the Reference Service in Neonatal Screening of the state of Rio Grande do Sul (RSNS-RS)., Subjects and Methods: Historical cohort study including all newborns screened for CH by the RSNS-RS from January 2008 until December 2017. Data of all newborns with neonatal TSH (neoTSH; heel prick test) values ≥ 9 mIU/L were collected. According to neoTSH values, the newborns were allocated into two groups: Group 1 (G1), comprising newborns with neoTSH ≥ 9 mIU/L and serum TSH (sTSH) < 10 mIU/L, and Group 2 (G2), comprising those with neoTSH ≥ 9 mIU/L and sTSH ≥ 10 mIU/L., Results: Of 1,043,565 newborns screened, 829 (0.08%) had neoTSH values ≥ 9 mIU/L. Of these, 284 (39.3%) had sTSH values < 10 mIU/L and were allocated to the G1 group, while 439 (60.7%) had sTSH ≥ 10 mIU/L and were allocated to the G2 group, and 106 (12.7%) were considered missing data. The overall incidence of CH was 42.1 per 100,000 newborns screened (95% confidence interval [CI] 38.5-45.7/100,000) or 1:2377 screened newborns. The sensibility and specificity of neoTSH ≥ 9 mIU/L were 97% and 11%; of neoTSH 12.6 mUI/L, 73% and 85% respectively., Conclusion: In this population, the incidence of permanent and transitory CH was 1:2377 screened newborns. The neoTSH cutoff value adopted during the study period showed excellent sensibility, which matters for a screening test.