Infants with the icteropyloric syndrome (IPS) have a four-fold higher incidence of the UGT1A1*28 mutation in the promoter region of the bilirubin uridine diphosphate glucuronosyl transferase gene than in infants with hypertrophic pyloric stenosis (HPS).
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The biological axis of CXCR2/CXCR2 chemokine ligand signaling plays a pivotal role in mediating neutrophil recruitment, lung injury, and alveolization following dsRNA exposure, that mimics an acute viral infection. This mechanism may be critical in promoting a lung phenotype that resembles bronchopulmonary dysplasia and serve as a potential therapeutic target.
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Adolescents born at term with moderate hypoxic-ischemic encephalopathy but without cerebral palsy demonstrated irreparable white matter injury seen as lower fractional anisotropy in certain regions such as the internal capsule, corpus callosum, and frontal sub-cortex by diffusion tensor imaging. Confirmation of these observations with functional correlates in a larger study group would prove useful.
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Hypoxia with re-oxygenation involving 100% oxygen induced brain NF-kB transcriptional activity which was non-invasively detected as bioluminescence in-vivo in NF-kB-luciferase transgenic mice. These studies suggest oxidative stress invokes inducers of inflammation in brain.
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The prostanoid EP4-receptor is the dilator receptor that mediates the action of prostaglandin E in the ductus arteriosus. An EP4-receptor antagonist demonstrates a dose-dependent constriction of the fetal and neonatal rat ductus arteriosus. These observations provide a proof of principle regarding the EP4 receptor serving as a therapeutic target in this condition.
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TBX5 genotyping has high sensitivity and specificity for Holt-Oram syndrome when stringent diagnostic criteria including the absolute requirement of pre-axial radial ray upper limb malformation is utilized in assigning the clinical diagnosis.
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Editor's Focus. Pediatr Res 58, A5 (2005). https://doi.org/10.1203/00006450-200511000-00001
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DOI: https://doi.org/10.1203/00006450-200511000-00001