Bloodstream Infection in Children With Epidermolysis Bullosa.

BACKGROUND: Epidermolysis bullosa (EB) is frequently complicated by skin infection, which can lead to bacteremia. However, bloodstream infections (BSI) in patients with EB have not been well described. METHODS: Retrospective study of BSI in children 0-18 years with EB from a national reference unit in Spain, in 2015-2020. RESULTS: Among 126 children with EB, we identified 37 BSI episodes in 15 patients (14 recessive dystrophic EB, 1 junctional EB). The most frequent microorganisms were Pseudomonas aeruginosa (n = 12) and Staphylococcus aureus (n = 11). Five P. aeruginosa isolates were ceftazidime-resistant (42%), 4 of which were also resistant to meropenem and quinolones (33%). As for S. aureus , 4 (36%) were methicillin-resistant and 3 (27%) clindamycin-resistant. In 25 (68%) BSI episodes skin cultures had been performed in the previous 2 months. The most frequent isolates were also P. aeruginosa (n = 15) and S. aureus (n = 11). In 13 cases (52%), smear and blood cultures grew the same microorganism, with the same antimicrobial resistance pattern in 9 isolates. Twelve patients (10%) died during follow-up (9 RDEB and 3 JEB). BSI was the cause of death in 1 case. In patients with severe RDEB, a history of BSI was associated with higher mortality (OR 6.1, 95% CI: 1.33-27.83, P = 0.0197). CONCLUSIONS: BSI is an important cause of morbidity in children with severe forms of EB. The most frequent microorganisms are P. aeruginosa and S. aureus , with high rates of antimicrobial resistance. Skin cultures can help guide treatment decisions in patients with EB and sepsis.

Mosaic Variegated Aneuploidy syndrome 2 caused by biallelic variants in CEP57, two new cases and review of the phenotype.

Mosaic Variegated Aneuploidy Syndrome 2 (MVA2; MIM 614114) is a rare autosomal recessive disorder, characterized by mosaic aneuploidies involving multiple chromosomes and tissues, caused by biallelic pathogenic variants in the CEP57 gene. Only 10 patients have been reported to date. We report two additional non related cases born to Moroccan consanguineous parents, carrying the previously described c.915_925dup11 CEP57 homozygous variant. Common features of these 12 cases include growth retardation, typically of prenatal onset, distinctive facial features, endocrine, cardiovascular and skeletal, abnormalities while malignancies have not been reported. This report describes the phenotypical spectrum of MVA2.

Candidemia Diagnosis With T2 Nuclear Magnetic Resonance in a PICU: A New Approach.

OBJECTIVES: Early diagnosis of invasive Candida infections is a challenge for pediatricians, intensivists, and microbiologists. To fill this gap, a new nanodiagnostic method has been developed using manual application of T2 nuclear magnetic resonance to detect Candida species. The aim of this study was to evaluate, prospectively, the usefulness as a tool diagnosis of the T2Candida panel in pediatric patients admitted at the PICU compared with blood culture. DESIGN: This is a prospective, observational, and unicentric study to compare T2Candida results with simultaneous blood cultures for candidemia diagnose. SETTING: This study was carried out in a 1,300-bed tertiary care hospital with a 16-bed medical-surgical PICU. PATIENTS: Sixty-three patients from 0 to 17 years old were enrolled in this study, including those undergoing solid organ transplantation (kidney, liver, pulmonary, multivisceral, intestinal, and heart) and hematopoietic stem cell transplantation. MEASUREMENTS AND MAIN RESULTS: Seven patients were positive by the T2Candida test. Only two of them had the simultaneous positive blood culture. T2Candida yielded more positive results than blood cultures. CONCLUSIONS: T2Candida might be useful for the diagnosis of candidemia in PICUs. The prevalence of candidemia might be underestimated in this pediatric population. The use of this diagnostic tool in these units may help clinicians to start adequate and timely antifungal treatments.

Utility of FilmArrayⓇ ME panel for prompt Neisseria meningitidis detection in non-cerebrospinal fluid samples- A case report.

The FilmArrayⓇ Meningitis/Encephalitis Panel detects the 14 most frequent pathogens causing meningitis and/or encephalitis. The use of FilmArray ME with non-validated samples is seldom published in the literature. We describe the case of a 3-year-old child, diagnosed with acute meningoencephalitis, in whom the FilmArrayⓇ ME technique successfully identified Neisseria meningitidis in both skin biopsy and whole blood samples.

Ultrasound-guided or landmark techniques for central venous catheter placement in critically ill children.

PURPOSE: To assess whether ultrasound guidance improves central venous catheter placement outcomes compared to the landmark technique in critically ill children. METHODS: A prospective multicentre observational study was carried out in 26 paediatric intensive care units over 6 months. Children 0-18 years old who received a temporary central venous catheter, inserted using either ultrasound or landmark techniques, were eligible. The primary outcome was the first-attempt success rate. Secondary outcomes included overall placement success, number of puncture attempts, number of procedures requiring multiple punctures (> 3 punctures), number of procedures requiring punctures at more than one vein site and immediate mechanical complications. To account for potential confounding factors, we used propensity scores. Our primary analysis was based on 1:1 propensity score matching. The association between cannulation technique and outcomes in the matched cohort was estimated using generalized estimating equations and mixed-effects models to account for patient-level and hospital-level confounders. RESULTS: Five hundred central venous catheter-placement procedures involving 354 patients were included. Ultrasound was used for 323 procedures, and the landmark technique was used for 177. Two hundred and sixty-six procedures were matched (133 in the ultrasound group and 133 in the landmark group). Ultrasound was associated with an increase in the first-attempt success rate [46.6 vs. 30%, odds ratio 2.09 (1.26-3.46); p < 0.001], a reduced number of puncture attempts [2 (1-3) vs. 2 (1-4), B coefficient - 0.51 (95% confidence interval - 1.01 to - 0.03), p = 0.035], and fewer overall mechanical complications [12 vs. 22.5%, odds ratio 0.47 (95% confidence interval 0.24-0.91), p = 0.025] in the matched cohort. The number of puncture attempts was the main factor associated with overall complications. CONCLUSIONS: Compared with the landmark technique, ultrasound guidance was associated with an increased first-attempt success rate, a reduced number of puncture attempts, and fewer complications during central venous catheter placement in critically ill children.

Nonketotic hyperglycinemia presenting as pulmonary hypertensive vascular disease and fatal pulmonary edema in response to pulmonary vasodilator therapy.

The association of pulmonary hypertensive vascular disease with nonketotic hyperglycinemia is rare. We describe 5 infants diagnosed with nonketotic hyperglycinemia, in whom pulmonary hypertensive vascular disease was the main presenting feature, and who developed severe pulmonary edema in response to pulmonary vasodilators.