European journal of pediatrics
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We investigated the cause of hereditary periodic fever syndrome in a Spanish child with recurrent long episodes of fever, migratory skin rash, myalgia, arthralgia, conjunctivitis and abdominal pain. Infectious and autoimmune causes were ruled out. No familial history was reported. Analysis of the tumour necrosis factor receptor superfamily 1A (TNFRSF1A) gene identified a missense mutation (G36E) on exon 3. The absence of this variant in the patient's parents and in controls identified it as a de novo disease-associated mutation. Clinical symptoms disappeared with administration of etanercept; however, levels of acute-phase reactants remained increased and could not be stabilised by the addition of colchicine. We believe that this patient gained some symptomatic relief with etanercept therapy, although not enough to completely avoid the risk of amyloidosis. Thus it is debatable whether etanercept alone or combined with other drugs, is the treatment of choice for patients with tumour necrosis factor receptor-associated periodic syndrome. ⋯ Since there is variability in treatment responses among different patients with tumour necrosis factor receptor-associated periodic syndrome, we suggest that a systematic evaluation of acute-phase reactants, especially SAA-1, could be useful in maintaining or modifying a given therapeutic approach in these patients.
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In order to determine the response to high-frequency oscillatory ventilation (HFOV), used as an "early rescue" therapy, in a cohort of paediatric patients with acute respiratory distress syndrome (ARDS), a prospective clinical study was performed in a tertiary care paediatric intensive care unit. Ten consecutive patients, aged 12 days to 5 years with ARDS and hypoxaemic respiratory failure on conventional ventilation (CV), using a lung protective strategy, were managed with HFOV early in the course of the disease process (median length of CV 4 h). Arterial blood gases, oxygenation index (OI), alveolar-arterial oxygen difference (P(A-a)O2) and PaO2/FIO2 ratio were prospectively recorded prior to HFOV (0 h) and at predetermined intervals throughout the course of the HFOV protocol. There was a significant improvement in PaCO2 4 h after institution of HFOV (P = 0.012). A significant and sustained increase (P < 0.001) in PaO2/FIO2 ratio and a significant and sustained decrease (P < 0.001) in OI and P(A-a)O2 were demonstrated during the HFOV trial. These improvements were achieved 4 h after initiating HFOV (P < 0.05). Eight patients survived. There were no deaths from respiratory failure. ⋯ In paediatric patients with acute respiratory distress syndrome and hypoxaemic respiratory failure on conventional ventilation, using a lung protective strategy, high-frequency oscillatory ventilation used as an "early rescue" therapy, improves gas exchange in a rapid and sustained fashion and provides a good outcome. Use of this therapy should probably be considered early in the course of the disease process.