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Tomaiuolo A.C.,Cytogenetics and Molecular Genetics Laboratory | Sirleto P.,Cytogenetics and Molecular Genetics Laboratory | Centrone C.,University of Florence | Surace C.,Cytogenetics and Molecular Genetics Laboratory | And 7 more authors.
Clinical Biochemistry | Year: 2011

Objectives: To characterize a novel deletion of exon 3 of CFTR gene and to evaluate the implications in Cystic Fibrosis (CF) care and genetic counseling. Design and methods: We performed a wide mutational analysis of CFTR gene, using reverse dot blot, Multiplex Ligation-dependent Probe Amplification (MLPA) assay and Real Time Quantitative PCR, in a carrier male and two CF patients with the F508del mutation. Results: We found a novel isolate 538. bp deletion of exon 3, described as 328del538, giving rise to a nonsense codon 60. bp at the 3' end of the new coding sequence or, alternatively, a novel splice site at the breakpoints. Conclusions: The 328del538 is a rare lesion with the characteristics of a complete, but moderate, phenotypic expression. Its finding underlines the importance of improving the detection of mutations using different methods. © 2011 The Canadian Society of Clinical Chemists.


Montuschi P.,Catholic University of the Sacred Heart | Paris D.,National Research Council Italy | Melck D.,National Research Council Italy | Lucidi V.,Cystic Fibrosis Unit | And 6 more authors.
Thorax | Year: 2012

Background: Metabolomics could provide new insights into the pathophysiology of cystic fibrosis (CF) by identifying profiles of endogenous metabolites. Objectives: To investigate whether metabolomics of exhaled breath condensate could discriminate between patients with unstable CF, stable CF and healthy subjects, and whether selected metabolites were responsible for between-group differences. Methods: Twenty-nine patients with stable CF, 24 with unstable CF and 31 healthy subjects (age 9-24 years) participated in a cross-sectional study. Metabolomics was performed with high-resolution nuclear magnetic resonance spectroscopy. Partial least squares-discriminant analysis was used as classifier. The results were validated in a second independent study. Results: Intraclass correlation coefficients for betweenday and technical repeatability were 0.93 and 0.96, respectively. Bland-Altman analysis showed good within-day repeatability. Correct classification rate of CF (n=53) vs healthy subjects (n=31) was 96% (R 2=0.84; Q 2=0.79). Model validation with a testing sample set obtained from subjects not included in the primary analysis (23 CF and 25 healthy subjects) showed a sensitivity of 91% and a specificity of 96%. The classification rate of stable CF (n=29) vs unstable CF patients (n=24) was 95% (R 2=0.82; Q 2=0.78). Model external validation in 14 patients with stable CF and 16 with unstable CF showed a sensitivity of 86% and a specificity of 94%. Ethanol, acetate, 2-propanol and acetone were most discriminant between patients with CF and healthy subjects, whereas acetate, ethanol, 2-propanol and methanol were the most important metabolites for discriminating between patients with stable and unstable CF. Conclusions: Nuclear magnetic resonance spectroscopy of exhaled breath condensate is reproducible, discriminates patients with CF from healthy subjects and patients with unstable CF from those with stable CF, and identifies the metabolites responsible for between-group differences.


Tomaiuolo A.C.,Cytogenetics and Molecular Genetics Laboratory | Alghisi F.,Cystic Fibrosis Unit | Petrocchi S.,Cytogenetics and Molecular Genetics Laboratory | Surace C.,Cytogenetics and Molecular Genetics Laboratory | And 4 more authors.
Clinical and Investigative Medicine | Year: 2010

Since the identification of the Cystic Fibrosis transmembrane conductance regulator (CFTR) gene in 1989, many genetic mutations have been found in cystic fibrosis (CF) patients. Dysfunctions of the CFTR gene are responsible for the highly variable clinical presentation ranging from severe CF, disseminated bronchiectasis, idiopathic chronic pancreatitis and congenital bilateral absence of vas deferens (CBAVD). Linkage disequilibrium studies have shown that some mutations are stringently coupled with polymorphisms in a genetic complex called haplotype. From a familial study of a patient with CBAVD, carrier of the A1006E mutation, we have observed its strict association with the polymorphism 5T-TG11. In order to speed up the genetic diagnosis and to correlate the clinical setting to this genetic feature, we have directly investigated the exon 17a, where the A1006E mutation is located, of five cystic fibrosis patients belonging to two unrelated families. All patients had the 5T-TG11 tract, F508del and one unknown mutation. One more family with two affected individuals carrying the Q220X/A1006E mutations was investigated for the poly-T polymorphism. All the members were found to have the A1006E mutation and the 5T-TG11 in the same DNA strand, demonstrating that this strategy is a reliable and inexpensive method for genotyping the CFTR gene. A detailed description of the clinical presentation and followup are provided in order to highlight common phenotypic features useful to improve the management of cystic fibrosis patients. © 2010 CIM.


Fainardi V.,Imperial College London | Fainardi V.,Cystic Fibrosis Unit | Koo S.D.,Imperial College London | Padley S.P.G.,Royal Brompton Hospital | And 2 more authors.
Pediatric Pulmonology | Year: 2013

Background The prevalence of idiopathic scoliosis in the general pediatric population is reported to be between 0.5% and 3.2%. Previous studies have reported an increased prevalence of scoliosis in children with cystic fibrosis (CF). Hypothesis The prevalence of scoliosis in CF children is greater than in the normal population. Methods Chest X-rays of 319 patients attending the Royal Brompton CF Centre were reviewed. The Cobb angle of any spinal lateral curvature was measured. Scoliosis was defined as a Cobb angle of more than 10°. Results Median age of the whole group of patients was 10.9 years (range 1.1-18 years), 53% were females. Seven patients (2.2%) had radiological signs of scoliosis, their mean age was 14.5 ± 2.3 years (range: 11.5-18 years), 5 were females. Age at onset of scoliosis was between 5 and 10 years for three patients and over 10 years for the others. All the curves were thoracic and with right convexity: apices between T7 and T9 for the single curves (n = 5) and between T4 and T5 (n = 2) for the double curves. Conclusion CF patients showed a similar prevalence of scoliosis as in the normal population (2.2% vs. 0.5-3.2%). There was the same gender (female) and side (right-sided) predilection as in normal population. Pediatr Pulmonol. 2013; 48:553-555. © 2012 Wiley Periodicals, Inc. Copyright © 2012 Wiley Periodicals, Inc.


Nosotti M.,Thoracic Surgery and Lung Transplantation Unit | Rosso L.,Thoracic Surgery and Lung Transplantation Unit | Palleschi A.,Thoracic Surgery and Lung Transplantation Unit | Lissoni A.,Intensive Care Unit | And 5 more authors.
Transplantation Proceedings | Year: 2010

Extracorporeal membrane oxygenation (ECMO) is the only therapeutic option for patients with ventilation-refractory hypercapnia while awaiting lung transplantation. Moreover, there is increasing success using ECMO for definitive respiratory failure in formerly healthy patients. This report describes the use of membrane oxygenation as a bridge to lung transplantation in 2 patients on the waiting list and in 2 previously healthy patients. Our experience showed that coagulation management, critical illness myopathy, and psychological disorders were the most critical problems. One patient died at 2 days after transplantation, 1 at 3 months, and 2 returned to their pretransplantation activities. We concluded that ECMO is an adequate bridge to lung transplantation but, especially in formerly healthy patients, an awake procedure is advisable for a successful outcome. © 2010 Elsevier Inc. All rights reserved.


Berlucchi M.,Spedali Civili | De Santi M.M.,University of Siena | Bertoni E.,University of Brescia | Spinelli E.,University of Brescia | And 2 more authors.
European Archives of Oto-Rhino-Laryngology | Year: 2012

Ciliary aplasia is a rare congenital disease that alters the normal function of the mucociliary apparatus in several organs. Patients generally present with severe recurrent and chronic infections of the airways. A high suspect of this disorder is mandatory to perform correct diagnosis and provide prompt treatment. The authors describe the history of two siblings affected by primary ciliary aplasia that was associated with hydrocephalus in one case. A careful description of diagnostic procedures and treatment of this extremely rare disorder is also presented. © Springer-Verlag 2012.

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