Published in The Journal of pediatrics
Spinal muscular atrophy is a neurodegenerative disease resulting from irreversible loss of anterior horn cells owing to biallelic deletions/mutations in the survival motor neuron (SMN) 1 gene. Gene replacement therapy using an adeno-associated virus vector containing the SMN gene was approved by the US Food and Drug Administration in May 2019. We r...
Published in The Journal of pediatrics
Published in The Journal of pediatrics
Published in The Journal of pediatrics
To determine associations between hand function at age 18-22 months (early) and scores on the Movement Assessment Battery for Children, 2nd edition (MABC) at 6-7 years of age (school age) in extremely preterm children. Prospective multicenter cohort of 313 extremely preterm children with early hand function assessment and school-age MABC testing. E...
Published in The Journal of pediatrics
We demonstrated the sustained impact over a 5-year period of a clinical examination-based approach to identification of early-onset sepsis in late preterm and term neonates at our hospital. To date, more than 20 000 neonates have been safely managed using this approach, resulting in a 63% reduction in antibiotic use. Copyright © 2020 Elsevier Inc. ...
Published in The Journal of pediatrics
To evaluate the results of the first 24 months of a postprescription review with feedback-based antimicrobial stewardship program in a European referral children's hospital. We performed a pre-post study comparing antimicrobial use between the control (2015-2016) and the intervention periods (2017-2018) expressed in days of therapy/100 days present...
Published in The Journal of pediatrics
To describe the prevalence of pulmonary arterial hypertension (PAH)-associated gene mutations, and other genetic characteristics in a national cohort of children with PAH from the Dutch National registry and to explore genotype-phenotype associations and outcomes. Children (n = 70) diagnosed with idiopathic PAH, heritable PAH, PAH associated with c...
Published in The Journal of pediatrics
To report detailed knowledge about the clinical manifestations, ciliary phenotypes, genetic spectrum as well as phenotype/genotype correlation in primary ciliary dyskinesia (PCD) in Chinese children. We recruited 50 Chinese children with PCD. Extensive clinical assessments, nasal nitric oxide, high-speed video analysis, transmission electron micros...
Published in The Journal of pediatrics
We report our experience caring for an infant with respiratory syncytial virus infection (RSV) and group B Streptococcus (GBS) bacteremia and meningitis. Concurrent GBS meningitis and RSV is rare but highlights the importance of correlating clinical symptoms with viral diagnostic testing during the evaluation of infants at risk for serious bacteria...
Published in The Journal of pediatrics
To compare the classification of preterm postnatal poor growth using healthy preterm vs fetal growth references and to examine associations with neurodevelopmental impairment in infancy and childhood. We included 613 infants born at 0.8 SD (weight), >1 SD (head), and >2 SD (length). We used generalized estimating equations to estimate aOR for neuro...
