Frontiers in pediatrics
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Frontiers in pediatrics · Jan 2019
Case ReportsTwo Novel Mutations (c.883-4_890del and c.1684C>G) of WDR62 Gene Associated With Autosomal Recessive Primary Microcephaly: A Case Report.
Background: Autosomal recessive primary microcephaly (Microcephaly Primary Hereditary, MCPH) is a rare disorder, affecting 1 in 10,000 children in areas where consanguineous marriages are common. WDR62 gene mutations are the second most common cause of MCPH. Herein, we report a case of primary microcephaly caused by two novel WDR62 mutations, which is, to our knowledge, the first such case report in East Asia. ⋯ The patient's parents were identified as heterozygous carriers for each variation. Conclusion: We report on two novel heterozygous mutations in East Asia. Our data expand the understanding of WDR62 mutations.
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Frontiers in pediatrics · Jan 2018
Successful Deployment of High Flow Nasal Cannula in a Peruvian Pediatric Intensive Care Unit Using Implementation Science-Lessons Learned.
Acute lower respiratory infections are the leading cause of death outside the neonatal period for children less than 5 years of age. Widespread availability of invasive and non-invasive mechanical ventilation in resource-rich settings has reduced mortality rates; however, these technologies are not always available in many low- and middle-income countries due to the high cost and trained personnel required to implement and sustain their use. High flow nasal cannula (HFNC) is a form of non-invasive respiratory support with growing evidence for use in pediatric respiratory failure. ⋯ Implementation science is an emerging field dedicated to closing the know-do gap by incorporating evidence-based interventions into routine care, and its principles have guided the scaling up of many global health interventions. In 2016, we introduced HFNC use for respiratory failure in a pediatric intensive care unit in Lima, Peru using implementation science methodology. Here, we review our experience in the context of the principles of implementation science to serve as a guide for others considering HFNC implementation in resource-limited settings.
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Frontiers in pediatrics · Jan 2018
ReviewClassification of Pediatric Asthma: From Phenotype Discovery to Clinical Practice.
Advances in big data analytics have created an opportunity for a step change in unraveling mechanisms underlying the development of complex diseases such as asthma, providing valuable insights that drive better diagnostic decision-making in clinical practice, and opening up paths to individualized treatment plans. However, translating findings from data-driven analyses into meaningful insights and actionable solutions requires approaches and tools which move beyond mining and patterning longitudinal data. The purpose of this review is to summarize recent advances in phenotyping of asthma, to discuss key hurdles currently hampering the translation of phenotypic variation into mechanistic insights and clinical setting, and to suggest potential solutions that may address these limitations and accelerate moving discoveries into practice. ⋯ We advocate a more cautious modeling approach by "supervising" the findings to delineate more precisely the characteristics of the individual trajectories assigned to each phenotype. Furthermore, it is important to employ different methods within a study to compare the stability of derived phenotypes, and to assess the immutability of individual assignments to phenotypes. If we are to make a step change toward precision (stratified or personalized) medicine and capitalize on the available big data assets, we have to develop genuine cross-disciplinary collaborations, wherein data scientists who turn data into information using algorithms and machine learning, team up with medical professionals who provide deep insights on specific subjects from a clinical perspective.
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Frontiers in pediatrics · Jan 2018
ReviewRobotic-Assisted Urologic Surgery in Infants: Positioning, Trocar Placement, and Physiological Considerations.
Pediatric robotic-assisted laparoscopic procedures are becoming increasingly common. They have been shown to be safe in younger patients, including infants. Successful adoption of robotic-assisted surgery in infants requires an understanding of the technical factors unique to this patient population. This review will delineate the specific considerations to safely perform robotic-assisted laparoscopic procedures in infants, including physiological changes associated with pneumoperitoneum in infants, positioning, trocar placement, and docking.
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Frontiers in pediatrics · Jan 2018
ReviewCorticosteroids in Pediatric Heart Surgery: Myth or Reality.
Background: Corticosteroids have been administered prophylactically for more than 60 years in pediatric heart surgery, however, their use remains a matter of debate. There are three main indications for corticosteroid use in pediatric heart surgery with the use of cardiopulmonary bypass (CPB): (1) to blunt the systemic inflammatory response (SIRS) induced by the extracorporeal circuit; (2) to provide perioperative supplementation for presumed relative adrenal insufficiency; (3) for the presumed neuroprotective effect during deep hypothermic circulatory arrest operations. This review discusses the current evidence behind the use of corticosteroids in these three overlapping areas. ⋯ Conclusions: The utility of steroid administration for pediatric heart surgery with the use of CPB remains a matter of debate. The effect on early and late outcomes requires clarification with a large multicenter randomized trial. More research into the understanding of the adrenal response to surgery in children and the effect of corticosteroids on brain injury is warranted.