Prophylactic sildenafil to prevent bronchopulmonary dysplasia: A systematic review and meta-analysis.

BACKGROUND: Bronchopulmonary dysplasia (BPD) persists as one of the foremost factors contributing to mortality and morbidity in extremely preterm infants. The effectiveness of administering sildenafil early on to prevent BPD remains uncertain. The aim of this study was to investigate the efficacy and safety of prophylactically administered sildenafil during the early life stages of preterm infants to prevent mortality and BPD. METHODS: MEDLINE, Embase, Cochrane Central Register of Controlled Trials, Cumulative Index to Nursing and Allied Health Literature, and Ichushi were searched. Published randomized controlled trials (RCTs), non-RCTs, interrupted time series, cohort studies, case-control studies, and controlled before-and-after studies were included. Two reviewers independently screened the title, abstract, and full text, extracted data, assessed the risk of bias, and evaluated the certainty of evidence (CoE) following the Grading of Recommendations Assessment and Development and Evaluation approach. The random-effects model was used for a meta-analysis of RCTs. RESULTS: This review included three RCTs (162 infants). There were no significant differences between the prophylactic sildenafil and placebo groups in mortality (risk ratio [RR]: 1.32; 95% confidence interval [CI]: 0.16-10.75; very low CoE), BPD (RR: 1.20; 95% CI: 0.79-1.83; very low CoE), and all other outcome assessed (all with very low CoE). The sample sizes were less than the optimal sizes for all outcomes assessed, indicating the need for further trials. CONCLUSIONS: The prophylactic use of sildenafil in individuals at risk of BPD did not indicate any advantageous effects in terms of mortality, BPD, and other outcomes, or increased side effects.

Report of 2 Pediatric Cases With Li-Fraumeni Syndrome Related Malignancy in a Family.

Li-Fraumeni syndrome (LFS) is a rare inherited disease characterized by a high and early-onset cancer risk. A cancer surveillance program is important to reduce cancer-related morbidity and mortality in individuals with LFS. We report 2 pediatric cases with LFS-related malignancy in a family. Eight-year-old elder brother was diagnosed with adrenocortical carcinoma and was found to have a heterozygous missense germline mutation c.736A>G: p.Met246Val in the TP53 gene. Cancer screening led to the diagnosis of rhabdomyosarcoma at a curable stage in his 2-year-old younger brother. Comprehensive surveillance resulted in early tumor detection and improved survival.

School electrocardiography screening program prompts the detection of otherwise unrecognized atrial septal defect in children in Japan.

Background: Atrial septal defect (ASD) is a congenital heart disease that often presents without symptoms or murmurs. If left untreated, children with ASD can develop comorbidities in adulthood. In Japan, school electrocardiography (ECG) screening has been implemented for all 1st, 7th, and 10th graders. However, the impact of this program in detecting children with ASD is unknown. Methods: This is a retrospective study that analyzed consecutive patients with ASD who underwent catheterization for surgical or catheter closure at ≤18 years of age during 2009-2019 at a tertiary referral center in Japan. Results: Of the overall 116 patients with ASD (median age: 3.0 years of age at diagnosis and 8.9 years at catheterization), 43 (37%) were prompted by the ECG screening (Screening group), while the remaining 73 (63%) were by other findings (Non-screening group). Of the 49 patients diagnosed at ≥6 years of age, 43 (88%) were prompted by the ECG screening, with the 3 corresponding peaks of the number of patients at diagnosis. Compared with the non-screening group, the screening group exhibited similar levels of hemodynamic parameters but had a lower proportion of audible heart murmur, which were mainly prompted by the health care and health checkups in infancy or preschool period. Patients positive for a composite parameter (rsR' type of iRBBB, inverted T in V4, or ST depression in the aVF lead) accounted for 79% of the screening group at catheterization, each of which was correlated with hemodynamic parameters in the overall patients. Conclusions: The present study shows that school ECG screening detects otherwise unrecognized ASD, which prompted the diagnosis of the majority of patients at school age and >one-third of overall patients in Japan. These findings suggest that ECG screening program could be an effective strategy for detecting hemodynamically significant ASD in students, who are asymptomatic and murmurless.

Central nervous system involvement of systemic ALK-positive histiocytosis with KIF5B-ALK fusion.

ALK-positive histiocytosis is an emerging histiocytic entity that can involve a single organ or multiple organs. This disease frequently involves the central nervous system, and the importance of immunohistochemical and genetic analyses is emphasized for the accurate diagnosis of this rare entity. However, radiological findings of this disease have not been sufficiently described. Here, we report a case of a 3-year-old boy with ALK-positive histiocytosis with systemic masses that was identified to harbor KIF5B-ALK gene fusion.