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Lipska B.S.,University of Heidelberg | Lipska B.S.,Medical University of Gdańsk | Iatropoulos P.,Mario Negri Institute for Pharmacological Research | Maranta R.,Mario Negri Institute for Pharmacological Research | And 47 more authors.
Kidney International | Year: 2013

Genetic screening paradigms for congenital and infantile nephrotic syndrome are well established; however, screening in adolescents has received only minor attention. To help rectify this, we analyzed an unselected adolescent cohort of the international PodoNet registry to develop a rational screening approach based on 227 patients with nonsyndromic steroid-resistant nephrotic syndrome aged 10-20 years. Of these, 21% had a positive family history. Autosomal dominant cases were screened for WT1, TRPC6, ACTN4, and INF2 mutations. All other patients had the NPHS2 gene screened, and WT1 was tested in sporadic cases. In addition, 40 sporadic cases had the entire coding region of INF2 tested. Of the autosomal recessive and the sporadic cases, 13 and 6%, respectively, were found to have podocin-associated nephrotic syndrome, and 56% of them were compound heterozygous for the nonneutral p.R229Q polymorphism. Four percent of the sporadic and 10% of the autosomal dominant cases had a mutation in WT1. Pathogenic INF2 mutations were found in 20% of the dominant but none of the sporadic cases. In a large cohort of adolescents including both familial and sporadic disease, NPHS2 mutations explained about 7% and WT1 4% of cases, whereas INF2 proved relevant only in autosomal dominant familial disease. Thus, screening of the entire coding sequence of NPHS2 and exons 8-9 of WT1 appears to be the most rational and cost-effective screening approach in sporadic juvenile steroid-resistant nephrotic syndrome. © 2013 International Society of Nephrology.

Chidini G.,Pediatric Intensive Care Unit | Calderini E.,Pediatric Intensive Care Unit | Pelosi P.,IRCCS Fondazione Ospedale Maggiore Policlinico | Pelosi P.,University of Insubria
Pediatric Critical Care Medicine | Year: 2010

Objectives: To evaluate the feasibility and efficacy of continuous positive airway pressure delivered by a new pediatric helmet in comparison with a standard facial mask in infants with acute hypoxemic respiratory failure. Design: A single-center prospective case-control study. Setting: Pediatric intensive care unit in a tertiary children hospital. Patients and interventions: Twenty consecutive infants treated with continuous positive airway pressure by a helmet matched with a control patient treated with continuous positive airway pressure by facial mask and selected by age, weight, PaO2:Fio2, and PaCO2 on pediatric intensive care unit admission. Measurements and main results: Feasibility was defined as the incidence of continuous positive airway pressure protocol failure secondary to 1) failure to administer continuous positive airway pressure because of intolerance to the interface; 2) deterioration in gas exchange soon after continuous positive airway pressure institution; and 3) major clinical adverse events such as pneumothorax or any hemodynamic instability related to the continuous positive airway pressure safety system device's failure. Evaluation of feasibility included also the total application time of respiratory treatment, the number of continuous positive airway pressure discontinuations/first 24 hrs. Interface-related complications included air leaks, cutaneous pressure sores, eye irritation, inhalation, and gastric distension. The 20 patients and control subjects had similar matching characteristics. Continuous positive airway pressure delivered by a helmet compared with a facial mask reduced continuous positive airway pressure trial failure rate (p = .02), increased application time (p = .001) with less discontinuations (p = .001), and was not associated with an increased rate of major adverse events, resulting in decreased air leaks (p = .04) and pressure sores (p = .002). Both continuous positive airway pressure systems resulted in early and sustained improvement in oxygenation. Conclusions: The helmet might be considered a viable and safe alternative to a standard facial mask to deliver continuous positive airway pressure in hypoxemic infants in the pediatric intensive care unit setting. In our study, the helmet allowed more prolonged application of continuous positive airway pressure compared with a facial mask, ensuring similar improvement in oxygenation without any adverse events and clinical intolerance. Copyright © 2010 by the Society of Critical Care Medicine and the World Federation of Pediatric Intensive and Critical Care Societies.

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