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Dattolo P.,S M Annunziata Hospital | Allinovi M.,S M Annunziata Hospital | Iatropoulos P.,Centro Of Ricerche Cliniche Per Le Malattie Rare Aldo E Cele Dacco | Michelassi S.,S M Annunziata Hospital
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.,San Gerardo Hospital | Pesenti A.,San Gerardo Hospital | Pesenti A.,University of Milan Bicocca | Latini R.,Instituto Of 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.


Bertolini G.,Instituto Of Ricerche Farmacologiche Mario Negri | 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.


Remuzzi G.,Centro Of Ricerche Cliniche Per Le Malattie Rare Aldo E Cele Dacco | Schieppati A.,Centro Of Ricerche Cliniche Per Le Malattie Rare Aldo E Cele Dacco
Annali dell'Istituto Superiore di Sanita | Year: 2011

Patients with rare diseases are awaiting an answer to their needs. Traditionally, however, research on rare diseases has been limited by the idea that it was too difficult to do and too little rewarding in terms of return of profit. This attitude has actually changed during the last decade, because it was realized that research on rare diseases may help finding solutions valid also for common conditions. Indeed, while we all invoke translational research as the way to adapt results of laboratory studies into therapeutic interventions for patients, rare diseases often need the opposite path: we observe rare patients in the clinical practice, then we find out that they have a genetic defect, and finally we reproduce the defect in an animal model to extend the observation further beyond the clinic. In the process we also learn a lot about the physiology and the pathology and have insight into the mechanisms of common diseases. In other words, studying a rare condition may enlighten the path to other discoveries and to break the boundaries between disciplines and specialities to provide solutions for the sake of the patients.


PubMed | Centro Of Ricerche Cliniche Per Le Malattie Rare Aldo E Cele Dacco
Type: Case Reports | Journal: Annali dell'Istituto superiore di sanita | Year: 2011

Patients with rare diseases are awaiting an answer to their needs. Traditionally, however, research on rare diseases has been limited by the idea that it was too difficult to do and too little rewarding in terms of return of profit. This attitude has actually changed during the last decade, because it was realized that research on rare diseases may help finding solutions valid also for common conditions. Indeed, while we all invoke translational research as the way to adapt results of laboratory studies into therapeutic interventions for patients, rare diseases often need the opposite path: we observe rare patients in the clinical practice, then we find out that they have a genetic defect, and finally we reproduce the defect in an animal model to extend the observation further beyond the clinic. In the process we also learn a lot about the physiology and the pathology and have insight into the mechanisms of common diseases. In other words, studying a rare condition may enlighten the path to other discoveries and to break the boundaries between disciplines and specialities to provide solutions for the sake of the patients.

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