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 2019
ReviewBronchopulmonary Dysplasia: Crosstalk Between PPARγ, WNT/β-Catenin and TGF-β Pathways; The Potential Therapeutic Role of PPARγ Agonists.
Bronchopulmonary dysplasia (BPD) is a serious pulmonary disease which occurs in preterm infants. Mortality remains high due to a lack of effective treatment, despite significant progress in neonatal resuscitation. In BPD, a persistently high level of canonical WNT/β-catenin pathway activity at the canalicular stage disturbs the pulmonary maturation at the saccular and alveolar stages. ⋯ Following a premature birth, hypoxia activates the canonical WNT/TGF-β axis at the expense of PPARγ. This gives rise to the differentiation of fibroblasts into myofibroblasts, which can lead to pulmonary fibrosis that impairs the respiratory function after birth, during childhood and even adulthood. Potential therapeutic treatment could target the inhibition of the canonical WNT/TGF-β pathway and the stimulation of PPARγ activity, in particular by the administration of nebulized PPARγ agonists.
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Frontiers in pediatrics · Jan 2019
ReviewAssessing the Microcirculation With Handheld Vital Microscopy in Critically Ill Neonates and Children: Evolution of the Technique and Its Potential for Critical Care.
Assuring adequate tissue oxygenation in the critically ill, but still developing child is challenging. Conventional hemodynamic monitoring techniques fall short in assessing tissue oxygenation as these are directed at the macrocirculation and indirect surrogates of tissue oxygenation. The introduction of handheld vital microscopy (HVM) has allowed for the direct visualization of the microcirculation and with this has offered insight into tissue oxygenation on a microcirculatory level. ⋯ As a next step, reference values for microcirculatory parameters need to be established, while also accounting for developmental changes. Finally, studies on microcirculatory guided therapies are necessary to assess whether the integration of microcirculatory monitoring will actually improve patient outcome. Nevertheless, HVM remains a promising, non-invasive tool to help physicians assure tissue oxygenation in the critically ill child.
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Frontiers in pediatrics · Jan 2019
Do Commonly Used Measures of Pain Intensity Only Reflect Pain Intensity in Youths With Bothersome Pain and a Physical Disability?
The objective of this cross-sectional study was to evaluate the extent to which non-pain intensity factors influence the ratings of pain intensity on two commonly used measures: the Wong-Baker Faces pain rating scale (FACES) and the Verbal Rating Scale (VRS) in a sample of youths with physical disabilities and bothersome pain. Study participants came from a convenience sample of 115 youths (age: X ¯ = 14.4 years; SD = 3.3), who participated in a survey on the impact of pain in young people with a physical disability. They were administered measures of pain intensity, pain catastrophizing, depressive symptoms, pain interference, and pain control beliefs. ⋯ Regression analyses showed that the FACES and VRS also reflect pain interference, in addition to pain intensity. The fact that the FACES and VRS ratings reflect more than pain intensity should be considered when selecting a pain measure. The results of this study also provide information to help interpret results after treatment.
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Frontiers in pediatrics · Jan 2019
Respiratory Morbidity and Lung Function Analysis During the First 36 Months of Life in Infants With Bronchopulmonary Dysplasia (BPD).
Purpose: To explore the lung function of bronchopulmonary dysplasia (BPD) in premature infants to guide clinical prevention, early diagnosis and treatment. Methods: Thirty infants with BPD at 4-36 months of corrected gestational age were enrolled and divided into mild BPD and moderate and severe BPD groups. Thirty full-term healthy infants, and 30 non-BPD infants at 4-36 months of corrected gestational age were included as controls. ⋯ As the severity of the BPD increased, slope of the descending branch of expiration of tidal breathing flow capacity ring (TBFVL) increased. Conclusion: There is a correlation between the severity of BPD and a poor prognosis of respiratory system. TBFVL can directly reflect the characteristics of Tidal Pulmonary Function in children with different degrees of BPD.