European journal of pediatrics
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Primary hyperoxaluria type 1 (PH1) is a rare autosomal recessive disorder characterised by an increased urinary excretion of calcium oxalate, leading to recurrent urolithiasis, nephrocalcinosis and accumulation of insoluble oxalate throughout the body (oxalosis) when the glomerular filtration rate falls to below 40-20 mL/min per 1.73 m(2). The disease is due to a functional defect of the liver-specific peroxisomal enzyme alanine: glyoxylate aminotransferase (AGT), the gene of which is located on chromosome 2q37.3. The diagnosis is based on increased urinary oxalate and glycollate, increased plasma oxalate and AGT measurement in a liver biopsy. ⋯ In addition, liver Tx may allow the reversal of systemic storage disease (i.e. bone, heart, vessels, nerves) and provide valuable quality of life. Whatever the transplant strategy, the outcome is improved when patients are transplanted early in order to limit systemic oxalosis. According to the European experience, it appears that combined liver-kidney Tx is performed in PH1 patients with encouraging results, renal Tx alone has little role in the treatment of this disease, and liver Tx reverses the underlying metabolic defect and its clinical consequences.
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The International Liaison Committee on Resuscitation (ILCOR), with representation from North America, Europe, Australia, New Zealand, Africa, and South America, was formed in 1992 to provide a forum for liaison between resuscitation organizations in the developed world. This consensus document on resuscitation extends previously published ILCOR advisory statements on resuscitation to address the unique and changing physiology of the newly born infant within the first few hours following birth and the techniques for providing advanced life support.
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Septic shock with purpura is a syndrome frequently diagnosed in children and predominantly caused by Neisseria meningitidis. Despite improvements in management and therapy the mortality and morbidity in these patients are still high. During the last few years much effort has been put into understanding of the systemic host response during this acute infectious disease. This host response can be divided into the process of recognition of endotoxin, the cascade of pro- and counter inflammatory mediators, the endothelial damage resulting in capillary leakage and inappropriate vascular tone, and the procoagulant state. ⋯ This paper reviews the recent insights in the pathophysiology of the host response and their possible consequences for novel therapies in meningococcal sepsis.
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Of all newborn infants, 5% require some degree of basic life support at birth. Newborn resuscitation therefore is one of the most frequent procedures carried out in medicine. It is therefore important that the routines in use are evidence based. ⋯ Training programmes, identification of risk cases and preparation for resuscitation should be part of the routine in all delivery units. It is underlined that the need for oxygen, external heart massage or medication is rare. Most depressed newborn infants manage well with suctioning, gentle tactile stimulation or a few ventilations with a bag and mask.
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Inhaled nitric oxide (iNO) improves oxygenation in near-term and term newborns with persistent pulmonary hypertension of the newborn (PPHN), and decreases the need for treatment with extracorporeal membrane oxygenation. However, some patients with PPHN either do not respond or have only transient improvements in oxygenation during iNO therapy. Extrapulmonary shunting associated with high pulmonary vascular resistance in PPHN can cause critical hypoxaemia; however, the syndrome of PPHN is often associated with severe parenchymal lung disease (e.g., meconium aspiration pneumonitis, bacterial pneumonia, and surfactant deficiency) which causes intrapulmonary shunting. It is increasingly recognized that the effective use of iNO requires adequate lung inflation to optimize delivery of the drug within the lung. High frequency oscillatory ventilation (HFOV) causes safe and effective lung recruitment when an appropriate strategy is applied and has recently been shown to improve the response to iNO when parenchymal lung disease occurs in association with PPHN. ⋯ Recent studies have shown that HFOV augments the response to iNO in PPHN associated with meconium aspiration syndrome or diffuse parenchymal lung disease (pneumonia, respiratory distress syndrome). Suboptimal lung inflation compromises the efficacy of iNO in PPHN, and may in part explain the reported differences in iNO response rates.