The Italian pilot external quality assessment program for cystic fibrosis sweat test

Salvatore, Marco; Floridia, Giovanna; Amato, Annalisa; Censi, Federica; Carta, Claudio; Stefano, Maria Chiara de; Ferrari, Gianluca; Tosto, Fabrizio; Capoluongo, Ettore; Caruso, U.; Castaldo, Giuseppe; Cirilli, Natalia; Corbetta, Carlo; Padoan, Rita; Raia, Valeria; Taruscio, Domenica

doi:10.1016/j.clinbiochem.2015.12.014

Cited by 13 publications

(27 citation statements)

References 16 publications

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“…It was tested at diagnosis and repeated at the current age in patients with CFTR-RD or CFSPID (then, we considered the last available value) and twice at diagnosis in patients with CF. In each centre, sweat test was always performed in the same laboratory, thus ruling out the lack of harmonisation between different labs27 and all of them participate in the National Quality Control Programme 28. SCL were considered normal for values <40 mmol/L, borderline between 40 and 59 mmol/L and pathological ≥60 mmol/L 26.…”

Section: Methodsmentioning

confidence: 99%

Genotype–phenotype correlation and functional studies in patients with cystic fibrosis bearing CFTR complex alleles

et al. 2016

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Section: Methodsmentioning

confidence: 99%

Genotype–phenotype correlation and functional studies in patients with cystic fibrosis bearing CFTR complex alleles

et al. 2016

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“…The pilot IEQA-SCT has been fully described by Salvatore et al (Salvatore et al, 2016). Overall, ten and thirteen laboratories, included among the 37 Italian CF public Referral Centers, participated in 2014 and 2015 respectively.…”

Section: Table 1: Ieq-ts 2015 General Resultsmentioning

confidence: 99%

“…Italian audit performed in 2008 showed areas of inconsistencies in current practices for SCT, highlighting the needs of national guidelines to improve practice and management strategies (Cirilli et al, 2008;Cirilli et al, 2008). In order to increase and monitor quality in laboratory performing SCT, an EQA SCT pilot program was performed in 2014 at the Italian National Centre for Rare Diseases (CNMR) of the Istituto Superiore di Sanità (ISS, Rome); in 2015 the activity was recognized as institutional through the publication of Official Bulletin of the Italian Republic (Official Bulletin of the Italian Republic, 2015; Salvatore et al, 2016) and the SCT EQA program is now permanent. Aim of this study is to report results of the first official 2015 sweat chloride test EQA program compared with the 2014 round ones.…”

Section: Sweat Testing Is Currently Performed In Approximately 37 Labmentioning

confidence: 99%

The Italian External Quality Assessment Program for CF Sweat Chloride Test: Results of the 2015 Round

Salvatore¹,

Floridia²,

Amato³

et al. 2016

JCB

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Background: Sweat chloride test is the gold standard test for cystic fibrosis (CF) diagnosis. In 2014 the Istituto Superiore di Sanità (ISS) established the first Italian pilot external quality assessment (EQA) program for CF sweat chloride test. In 2015 this activity was recognized as a third party service carried out by the ISS. The present paper describes the results of the first official 2015 sweat chloride test EQA program and results are compared with the 2014 round ones. Methods: the scheme is prospective; participation is open to Italian laboratories performing sweat test analysis for CF diagnosis. Enrollment is voluntary and since 2015 the payment of a fee is required. Participants are registered identified by an identification number known only to the ISS. Assessment covers analysis, interpretation and reporting. Results: thirteen laboratories, belonging to the Italian public Referral Centers for CF, participated in the 2015 round; nine already participated in 2014. Variability in scores of chloride titration and heterogeneity in interpretation / reporting results were identified in 2014 and 2015. Conclusions: results show variability in performance of laboratories indicating that the quality of laboratory performance is unpredictable unless EQA participation is mandatory as a component of compulsory laboratory accreditation..

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“…Sequencing analysis. Sweat chloride levels were tested according to the guidelines 40 under quality control procedures 41 . In all patients, the CFTR genotype was defined by screening a panel of the most frequent point mutations 42 and gene rearrangements 43 .…”

Section: Methodsmentioning

confidence: 99%

TAS2R38 is a novel modifier gene in patients with cystic fibrosis

Castaldo

Cernera

Iacotucci

et al. 2020

Sci Rep

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The clinical manifestation of cystic fibrosis (CF) is heterogeneous also in patients with the same cystic fibrosis transmembrane regulator (CFTR) genotype and in affected sibling pairs. Other genes, inherited independently of CFTR, may modulate the clinical manifestation and complications of patients with CF, including the severity of chronic sinonasal disease and the occurrence of chronic Pseudomonas aeruginosa colonization. The T2R38 gene encodes a taste receptor and recently its functionality was related to the occurrence of sinonasal diseases and upper respiratory infections. We assessed the T2R38 genotype in 210 patients with CF and in 95 controls, relating the genotype to the severity of sinonasal disease and to the occurrence of P. aeruginosa pulmonary colonization. The frequency of the PAV allele i.e., the allele associated with the high functionality of the T2R38 protein, was significantly lower in i) CF patients with nasal polyposis requiring surgery, especially in patients who developed the complication before 14 years of age; and ii) in CF patients with chronic pulmonary colonization by P. aeruginosa, especially in patients who were colonized before 14 years of age, than in control subjects. These data suggest a role for T2R38 as a novel modifier gene of sinonasal disease severity and of pulmonary P. aeruginosa colonization in patients with CF.

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The Italian pilot external quality assessment program for cystic fibrosis sweat test

Cited by 13 publications

References 16 publications

Genotype–phenotype correlation and functional studies in patients with cystic fibrosis bearing CFTR complex alleles

Genotype–phenotype correlation and functional studies in patients with cystic fibrosis bearing CFTR complex alleles

The Italian External Quality Assessment Program for CF Sweat Chloride Test: Results of the 2015 Round

TAS2R38 is a novel modifier gene in patients with cystic fibrosis

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