European journal of pediatrics
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Review Case Reports
A review of filamin A mutations and associated interstitial lung disease.
The filamin A gene (FLNA) on Xq28 encodes the filamin A protein. Mutation in FLNA causes a wide spectrum of disease including skeletal dysplasia, neuronal migration abnormality, cardiovascular malformation, intellectual disability and intestinal obstruction. Recently, childhood-onset interstitial lung disease associated with a range of FLNA mutations has been recognised and reported. ⋯ What is Known: • FLNA gene on Xq28 encodes the filamin A protein and mutation therein is associated with variable phenotypes depending on its nature of mutation. • Loss-of-function mutation of filamin A is associated with X-linked inherited form of periventricular nodular heterotopia with or without epilepsy with most individuals affected being female. There is a recently recognised associated respiratory phenotype. What is New: • The respiratory phenotype in the form of childhood interstitial lung disease is a recently recognised clinical consequence of loss-of-function FLNA mutation. • Rare male patients with loss-of-function FLNA mutation-associated lung disease with residual protein function can survive into infancy with a severe form of the phenotype.
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Observational Study
Recognizing critically ill children with a modified pediatric early warning score at the emergency department, a feasibility study.
Pediatric Early Warning Scores were developed to monitor clinical deterioration of children admitted to the hospital. Pediatric Early Warning Scores could also be useful in the Emergency Department to quickly identify critically ill patients so treatment can be started without delay. To determine if a newly designed, fast, and easy to use Modified Pediatric Early Warning Score can identify critically ill children in the Emergency Department. ⋯ A larger prospective study is needed to confirm our results. What is known: • Pediatric Early Warning Scores can identify children who are in need for immediate intensive care unit admission at the Emergency Department. • Pediatric Early Warning Scores can be time-consuming, contain subjective parameters or parameters which are difficult to obtain in a reliable and standardized method. What is new: • We introduce a simplified, manageable and smartly designed Pediatric Early Warning Score on a pocket card based on an existing and previously investigated Pediatric Early Warning Score. • In this feasibility study the diagnostic performance of the Modified Pediatric Early Warning Score to predict immediate intensive care unit admission in the Emergency Department is in line with the original Pediatric Early Warning Scores but has to be validated on a larger scale.
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Measles outbreaks were recently reported in Europe due to low immunization rates. In this scenario, identifying the reasons of no vaccination is crucial to set up strategies to improve immunization rate. A cross-sectional study was conducted to investigate the determinants of missed vaccination in children living in Southern Italy, during the 2016 outbreak. ⋯ Implementation strategies addressed to health-care professionals and families should focus on the reported determinants to increase measles vaccination coverage. What is Known: • Measles is a viral, highly communicable disease, preventable by vaccine. • Measles elimination in Europe failed as demonstrated by outbreaks in several countries, due to low immunization rates. What is New: • Inadequate measles immunization rate due to false contraindications in Southern Italy, with lowest rates in children ≤ 2 years. • The presence of underlying disease is a risk factor for inadequate immunization.
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Observational Study
Long-term mortality and functional outcome after prolonged paediatric intensive care unit stay.
We performed a retrospective, observational study of patients who had spent > 14 days in the paediatric intensive care unit (PICU) of our hospital from 2011 to 2013. Specifically, long-term mortality, functional outcome, and PICU resource occupancy were examined. All prolonged-stay patients in our study were < 15 years of age. ⋯ Conclusion: Although prolonged PICU-stay patients utilized many PICU resources, most survived at least 3 years, and > 50% of the survivors had a favourable functional outcome (POPC score). What is Known: • The number of patients with prolonged paediatric intensive care unit (PICU) stays is increasing. • These patients utilize many resources and are at high risk for mortality and disabilities. What is New: • Although prolonged-stay patients accounted for 50% of PICU patient-days, their 3-year survival rate and favourable functional outcome rate (based on Pediatric Overall Performance Category scores) were relatively high. • Extremely prolonged stays (≥ 28 days) correlate with low favourable functional outcomes but not with mortality.
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Recent epidemiological studies have reported an increase in central nervous system (CNS)-active drug abuse rates in paediatric settings, raising several public health concerns. No study to date has explored this issue worldwide. We performed an extensive analysis of drugs abuse/overdose reported for children in the last decade by using the largest pharmacovigilance database, i.e. the VigiBase, collecting adverse drug reaction reports that involved at least one suspect drug belonging to the Anatomical Therapeutic Chemical code "Nervous System" through the Standardised Medical Dictionary for Drug Regulatory Affairs Queries for Drug abuse. 8.682 reports matched our criteria. ⋯ An increased clinical awareness of drug abuse and overdose is warranted, while continuing to provide effective treatments. What is Known: • The large increase in paediatric prescriptions for CNS-active drugs in the last 20 years has recently raised public health concerns about drug abuse and overdose. • No study to date has examined this issue in paediatric patients worldwide. What is New: • The number of paediatric reports associated with CNS drug abuse and intentional overdose is increasing, including those with fatal outcome; over 4 years; more than 35% of the reports was entered from European countries. • Opioid and paracetamol were most frequently suspected for ADRs with fatal outcome across all age groups, due to hypoxic-ischaemic encephalopathy and cardio-respiratory arrest, suggesting the need to implement strategies of risk-minimisation.