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Dattolo P.,Nephrology and Dialysis Unit | Allinovi M.,Nephrology and Dialysis Unit | Iatropoulos P.,Centro Of Ricerche Cliniche Per Le Malattie Rare Aldo E Cele Dacco | Michelassi S.,Nephrology and Dialysis Unit
BMJ Case Reports | Year: 2013

Wilms' tumour suppressor gene-1 (WT1) plays a critical role in kidney development and function. Several WT1 mutations can occur in exons 7, 8 and 9 and they have been associated with Denys-Drash syndrome. WT1 mutations of intron 9 have been reported too and associated with Frasier syndrome. However, overlapping and incomplete forms of both the syndromes have been described. We report a novel sequence variant (c.1012A>T) of the WT1 gene in exon 6 (p.R338X) in a 18-year-old girl with a history of Wilms' tumour, minor gonadal changes and relatively late-onset nephropathy. WT1-related nephropathies should be suspected in every patient with proteinuria not associated to immunological changes when a congenital neoplasia or minor gonadal anomalies are present. Copyright 2013 BMJ Publishing Group. All rights reserved.

Citerio G.,Neuroanaesthesia and Neurointensive Care Unit | Pesenti A.,Neuroanaesthesia and Neurointensive Care Unit | Pesenti A.,University of Milan Bicocca | Latini R.,Istituto di Ricerche Farmacologiche Mario Negri | And 4 more authors.
European Journal of Anaesthesiology | Year: 2012

Context A clear preference for intravenous or inhalational anaesthesia has not been established for craniotomy in patients without signs of cerebral hypertension. Objectives The NeuroMorfeo trial was designed to test equivalence of inhalational and intravenous anaesthesia maintenance techniques in the postoperative recovery of patients undergoing elective supratentorial surgery. Design This trial is a multicentre, randomised, open-label, equivalence design. A balanced stratified randomisation scheme was maintained using a centralised randomisation service. Equivalence was tested using the two one-sided tests procedure. Setting Fourteen Italian neuroanaesthesia centres participated in the study from December 2007 to March 2009. Patients Adults, 18 to 75 years old, scheduled for elective supratentorial intracranial surgery under general anaesthesia were eligible for enrolment if they had a normal preoperative level of consciousness and no clinical signs of intracranial hypertension. Interventions Patients were randomised to one of three anaesthesia maintenance protocols to determine if sevoflurane- remifentanil or sevoflurane-fentanyl were equivalent to propofol-remifentanil. Main outcome measures The primary outcome was the time to achieve an Aldrete postanaesthesia score of at least 9 after tracheal extubation. Secondary endpoints included haemodynamic parameters, quality of the surgical field, perioperative neuroendocrine stress responses and routine postoperative assessments. Results Four hundred and eleven patients [51% men, mean age 54.8 (SD 13.3) years] were enrolled. Primary outcome data were available for 380. Median (interquartiles) times to reach an Aldrete score of at least 9 were 3.48 (2.02 to 7.56), 3.25 (1.21 to 6.45) and 3.32 min (1.40 to 8.33) for sevoflurane-fentanyl, sevoflurane-remifentanil and propofol-remifentanil anaesthesia respectively, which confirmed equivalence using the two one-sided tests approach. Between-treatment differences in haemodynamic variables were small and not clinically relevant. Urinary catecholamine and cortisol responses had significantly lower activation with propofol-remifentanil. Postoperative pain and analgesic requirements were significantly higher in the remifentanil groups. Conclusion Equivalence was shown for inhalational and intravenous maintenance anaesthesia in times to reach an Aldrete score of at least 9 after tracheal extubation. Haemodynamic variables, the quality of surgical field and postoperative assessments were also similar. Perioperative endocrine stress responses were significantly blunted with propofol-remifentanil and higher analgesic requirements were recorded in the remifentanil groups. Trial registration: Eudract2007-005279-32. © 2012 Copyright European Society of Anaesthesiology.

Rodger M.A.,Center for Practice Changing Research | Langlois N.J.,Ottawa Hospital Research Institute | de Vries J.I.P.,VU University Amsterdam | Rey E.,CHU Ste Justine | And 14 more authors.
Systematic Reviews | Year: 2015

Background: Placenta-mediated pregnancy complications include pre-eclampsia, late pregnancy loss, placental abruption, and the small-for-gestational age newborn. They are leading causes of maternal, fetal, and neonatal morbidity and mortality in developed nations. Women who have experienced these complications are at an elevated risk of recurrence in subsequent pregnancies. However, despite decades of research no effective strategies to prevent recurrence have been identified, until recently. We completed a pooled summary-based meta-analysis that strongly suggests that low-molecular-weight heparin reduces the risk of recurrent placenta-mediated complications. The proposed individual patient data meta-analysis builds on this successful collaboration. The project is called AFFIRM, An individual patient data meta-analysis oF low-molecular-weight heparin For prevention of placenta-medIated pRegnancy coMplications. Methods/Design: We conducted a systematic review to identify randomized controlled trials with a low-molecular-weight heparin intervention for the prevention of recurrent placenta-mediated pregnancy complications. Investigators and statisticians representing eight trials met to discuss the outcomes and analysis plan for an individual patient data meta-analysis. An additional trial has since been added for a total of nine eligible trials. The primary analyses from the original trials will be replicated for quality assurance prior to recoding the data from each trial and combining it into a common dataset for analysis. Using the anonymized combined data we will conduct logistic regression and subgroup analyses aimed at identifying which women with previous pregnancy complications benefit most from treatment with low-molecular-weight heparin during pregnancy. Discussion: The goal of the proposed individual patient data meta-analysis is a thorough estimation of treatment effects in patients with prior individual placenta-mediated pregnancy complications and exploration of which complications are specifically prevented by low-molecular-weight heparin. Systematic review registration: PROSPERO (International Prospective Registry of Systematic Reviews) 23 December 2013, CRD42013006249. © 2014 Rodger et al.; licensee BioMed Central Ltd.

Tore S.,CNR Institute of Population Genetics | Casula S.,CNR Institute of Population Genetics | Casu G.,CNR Institute of Population Genetics | Concas M.P.,CNR Institute of Population Genetics | And 11 more authors.
PLoS Genetics | Year: 2011

In contrast to large GWA studies based on thousands of individuals and large meta-analyses combining GWAS results, we analyzed a small case/control sample for uric acid nephrolithiasis. Our cohort of closely related individuals is derived from a small, genetically isolated village in Sardinia, with well-characterized genealogical data linking the extant population up to the 16th century. It is expected that the number of risk alleles involved in complex disorders is smaller in isolated founder populations than in more diverse populations, and the power to detect association with complex traits may be increased when related, homogeneous affected individuals are selected, as they are more likely to be enriched with and share specific risk variants than are unrelated, affected individuals from the general population. When related individuals are included in an association study, correlations among relatives must be accurately taken into account to ensure validity of the results. A recently proposed association method uses an empirical genotypic covariance matrix estimated from genome-screen data to allow for additional population structure and cryptic relatedness that may not be captured by the genealogical data. We apply the method to our data, and we also investigate the properties of the method, as well as other association methods, in our highly inbred population, as previous applications were to outbred samples. The more promising regions identified in our initial study in the genetic isolate were then further investigated in an independent sample collected from the Italian population. Among the loci that showed association in this study, we observed evidence of a possible involvement of the region encompassing the gene LRRC16A, already associated to serum uric acid levels in a large meta-analysis of 14 GWAS, suggesting that this locus might lead a pathway for uric acid metabolism that may be involved in gout as well as in nephrolithiasis. © 2011 Tore et al.

Bertolini G.,Laboratorio Of Epidemiologia Clinica | Bertolini G.,Centro Of Ricerche Cliniche Per Le Malattie Rare Aldo E Cele Dacco
Medico e Bambino | Year: 2010

Physicians are trained within a cultural framework in which the main emphasis is toward the correctness and precision of what is known. The areas of uncertainty are seldom made clear and medical error is more or less implicitly considered unacceptable. Nevertheless, errors are always possible and even unavoidable. Hence, the ability to learn from errors must be developed, particularly by health professionals. To reach such a goal, a new culture that does not ban errors as markers of failures of which to be ashamed - "bad things happen to bad people" - should be promoted. This way, the problem would move from exculpating/ condemning people to understanding reasons that have led someone to err. Whilst the main concern should remain to avoid errors, the best way to obtain this is to deeply know factors that facilitate them.

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