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We report a 2‐year‐old patient with Netherton syndrome presenting with generalized exfoliative erythroderma, ichthyosiform dermatitis, trichorrhexis invaginata, hypernatremic dehydration, failure to thrive, and recurrent respiratory infections. Molecular analysis of SPINK5 identified a novel mutation (c.1530CA). Our case report also verifies and supports the safety and efficacy of subcutaneous immunoglobulin...
Background Early postnatal period is characterized by dramatic adaptation changes of cardiovascular and respiratory systems in newborns. There is still insufficient data regarding maturation of autonomic regulatory mechanisms in neonates early after delivery. Aim of this study was to analyze cardiac autonomic regulation in newborns within the first few postnatal days in relation to different modes...
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