Video Call Educational Program for Cystic Fibrosis Adolescents

Airway clearance technique (ACT) and inhalation therapy (IT) are essential in cystic fibrosis (CF) lung disease management. We here present our experience with a video-call educational program, which could maintain or improve adherence in adolescents. A 6-month program was offered to adolescents: a physiotherapist would monitor their ACT and IT home program via scheduled video-calls. A structured form evaluating patients’ independence and awareness during a session would be filled in at the start and after 6 months. After informed consent was obtained, subjects filled in a questionnaire about their expectations and a satisfaction questionnaire at the end of the program. Student\u27s t-test for paired data was performed for quantitative evaluation of the variables considered in forms filled during video calls. Eleven CF subjects were enrolled; most of them adhered spontaneously, as they expected to improve technique and receive helpful advice. About 301 educational video-calls were performed, 75% being the scheduled calls. Two patients dropped out. In the end, better awareness and self-management in ACT and IT was evident, and patients showed better performances (P < 0.01), reporting they received helpful advice. Video-call education is a simple and feasible tool which could be useful to support adherence to ACT and IT in CF adolescents

18q deletion in a cystic fibrosis infant, increased morbidity and challenge for correct treatment choices: a case report

Cystic Fibrosis (CF) is the most frequent recessive disease of Caucasian patients. Association with other diseases or syndromes has previously been reported. Co-morbidity may be a challenge for clinicians, who have to face more severe problems

Macro- And Microvascular Functions In Cystic Fibrosis Adults Without Cardiovascular Risk Factors: A Case-Control Study.

Increasing survival from cystic fibrosis show untypical systems involvement, such as cardiocirculatory. In particular, the presence of CFTR in smooth muscle and endothelial cells, systemic inflammation and oxidative stress could explain vascular alterations in these patients. We aimed at noninvasely evaluating macro- and microvascular dysfunction in cystic fibrosis adults without cardiovascular risk factors. Twenty-twoadults affected by cystic fibrosis and 24 healthy volunteers matched for age and sex were enrolled. None had known cardiovascular risk factors. All people underwent blood pressure measurement, microvascular function assessment by EndoPAT-2000 device (calculating RH-PAT index) and macrovascular evaluation by pulse wave velocity (PWV). RH-PAT index was significantly lower in patients than in controls (1.74±0.59 vs 2.33±0.34; p<0.001). Thirteen patients of 22 had a value inferior to the threshold of 1.67 (59.1%), while no controls had (p<0.001). Carotid-femoral PWV did not differ between the two groups (5.2±1.5 m/s vs 5.4±1.1; p=0.9), while brachial-ankle one did (11.0±2.2 m/s vs 10.1±0.8 m/s; p=0.04).Adults patients affected by cystic fibrosis show peripheral endothelial dysfunction, which is the first alteration in atherosclerotic phenomenon. Moreover, arterial stiffness measured by PWV unclearly seems to differ respect of healthy people, perhaps because PWV alterations are typical of above 50 years old people. It is unclear what prognostic role of future developing of atherosclerotic disease these findings could be, but it seems evident that cystic fibrosis directly affects cardiovascular system itself

CRMS/CFSPID subjects carrying D1152H CFTR variant: can the second variant be a predictor of disease development?

Background: There are no predictive factors of evolution of cystic fibrosis (CF) screen positive inconclusive diagnosis subjects (CFSPIDs). Aim: to define the role of the second CFTR variant as a predictive factor of disease evolution in CFSPIDs carrying the D1152H variant. Methods: We retrospectively evaluated clinical characteristics and outcome of CFSPIDs carrying the D1152H variant followed at five Italian CF centers. CFSPIDs were divided in two groups: Group A: compound heterozygous for D1152H and a CF-causing variant; Group B: compound heterozygous for D1152H and a: (i) non CF-causing variant, (ii) variant with varying clinical consequences, or (iii) variant with unknown significance. The variants were classified according to CFTR2 mutation database. Results:We enrolled 43 CFSPIDs with at least one D1152H variant: 28 (65.1%) were classified in the group A, and 15 (34.9%) in the Group B. CFSPIDs of group A had the first IRT significantly higher compared to those of group B (p &lt; 0.05) and had a more severe clinical outcome during the follow-up. At the end of the study period, after a mean follow-up of 40.6 months (range 6–91.6), 4 (9.3%) out of 43 CFSPIDs progressed to CFTR-RD or CF. All these subjects were in the group A. Conclusions: The genetic profile could help predict the risk of disease evolution in CFSPIDs carrying D1152H, revealing the subjects that need a more frequent follow-up

Incidence of SARS-CoV-2 in people with cystic fibrosis in Europe between February and June 2020

Background Viral infections can cause significant morbidity in cystic fibrosis (CF). The current Severe Acute Respiratory Syndrome Coronavirus 2 (SARS-CoV-2) pandemic could therefore have a serious impact on the health of people with CF (pwCF). Methods We used the 38-country European Cystic Fibrosis Society Patient Registry (ECFSPR) to collect case data about pwCF and SARS-CoV-2 infection. Results Up to 30 June 2020, 16 countries reported 130 SARS-CoV-2 cases in people with CF, yielding an incidence of 2.70/1000 pwCF. Incidence was higher in lung-transplanted patients (n=23) versus non-transplanted patients (n=107) (8.43 versus 2.36 cases/1000). Incidence was higher in pwCF versus the age-matched general population in the age groups <15, 15-24, and 25-49 years (p<0.001), with similar trends for pwCF with and without lung transplant. Compared to the general population, pwCF (regardless of transplantation status) had significantly higher rates of admission to hospital for all age groups with available data, and higher rates of intensive care, although not statistically significant. Most pwCF recovered (96.2%), however 5 died, of whom 3 were lung transplant recipients. The case fatality rate for pwCF (3.85%, 95% CI: 1.26-8.75) was non-significantly lower than that of the general population (7.46%; p=0.133). Conclusions SARS-CoV-2 infection can result in severe illness and death for pwCF, even for younger patients and especially for lung transplant recipients. PwCF should continue to shield from infection and should be prioritized for vaccination

What Is the Incidence of Cystic Fibrosis in Italy? Data from the National Registry (1988–2001)

The mean incidence of cystic fibrosis (CF) among North Americans of European ancestry is 1 in 2,500. Studies carried out in different geographic areas report incidence values ranging from 1 in 1,800 to 1 in 8,500, suggesting that incidence has to be assessed specifically for any population. This paper represents the first attempt to evaluate the incidence of CF in Italy and its time-related changes following the discovery of the gene in 1989. Data recorded in the Italian National CF Registry for CF subjects born between 1988 and 2001 were evaluated. All CF patients (1,742) were diagnosed by 1 of 18 specialized CF centers and 7 support services (1–3 in each region) according to the consensus statement on CF diagnosis. The average CF incidence in Italy was found to be 1 in 4,238, which is lower than the values reported elsewhere. The incidence remained nearly constant from 1988 to 2001, although the percentage of subjects screened for CF increased by 44%. Molecular analysis (available for more than 80% of the patients) indicated that the most common mutation (DF508) in Italy occurs in only 49% of CF chromosomes; the other mutations differ from region to region. These differences appeared to be mildly related to differences in reason for diagnosis and type of mutation. Italian registry data supply an incidence of CF lower than that reported for populations of European descent. Part of this difference is probably due to the higher allelic heterogeneity of the CFTR gene in Italy with respect to Northern Europe or the U.S. population of European descent

Identification of the 5T-12TG allele of the cystic fibrosis transmembrane conductance regulator gene in hypertrypsinaemic newborns

Abstract In order to increase knowledge of the pathogenic effect of the 5T-12TG allele of the cystic fibrosis transmembrane conductance regulator (CFTR) gene, we evaluated its presence in 24 hypertrypsinaemic newborns with borderline sweat tests. Among 20 CFTR-identified alterations, the 5T-12TG haplotype was the second most frequent mutation (14.6%) over F508del. Conclusion: Our study suggests the need for searching for this allele in hypertrypsinaemic infants with inconclusive sweat tests

What Is the Incidence of Cystic Fibrosis in Italy? Data from the National Registry (1988–2001)

The mean incidence of cystic fibrosis (CF) among North Americans of European ancestry is 1 in 2,500. Studies carried out in different geographic areas report incidence values ranging from 1 in 1,800 to 1 in 8,500, suggesting that incidence has to be assessed specifically for any population. This paper represents the first attempt to evaluate the incidence of CF in Italy and its time-related changes following the discovery of the gene in 1989. Data recorded in the Italian National CF Registry for CF subjects born between 1988 and 2001 were evaluated. All CF patients (1,742) were diagnosed by 1 of 18 specialized CF centers and 7 support services (1–3 in each region) according to the consensus statement on CF diagnosis. The average CF incidence in Italy was found to be 1 in 4,238, which is lower than the values reported elsewhere. The incidence remained nearly constant from 1988 to 2001, although the percentage of subjects screened for CF increased by 44%. Molecular analysis (available for more than 80% of the patients) indicated that the most common mutation (DF508) in Italy occurs in only 49% of CF chromosomes; the other mutations differ from region to region. These differences appeared to be mildly related to differences in reason for diagnosis and type of mutation. Italian registry data supply an incidence of CF lower than that reported for populations of European descent. Part of this difference is probably due to the higher allelic heterogeneity of the CFTR gene in Italy with respect to Northern Europe or the U.S. population of European descent

Usefulness of Real Time PCR in diagnosing initial Pseudomonas aeruginosa infection in Cystic Fibrosis pediatric patients

Chronic infection with Pseudomonas aeruginosa is the main agent responsible for lung function decline in Cystic Fibrosis patients.To prevent chronic colonization, timely identification of P. aeruginosa in the airways is crucial subsequently followed by eradication therapy. It is therefore necessary to use highly sensitive and specific methods. Our aim was to test the real-time PCR assay method to identify P. aeruginosa growth from CF respiratory specimens and compare it with conventional microbiological cultures. 754 sputum samples from 96 CF paediatric patients were processed between November 2009 and April 2011 with Real-Time PCR assays in addition to conventional microbiological cultures. Patients were categorized according to their P. aeruginosa infection status in three groups: “chronic infection”, “intermittent infection”, “negative”. From 16 chronic patients, seven cultures out of 138 (5%) were found to be positive using RT-PCR and then negative after cultures; from 29 intermittent patients, 18 out of 59 (30.5%) samples were positive only using the PCR method; from 51 negative patients, 13 out of 39 (33%) specimens were positive only with PCR. No false negative PCR results were detected when conventional cultures were positive. Real-Time PCR test was more sensitive in identifying P. aeruginosa in “intermittent infection” or “negative” patients. Clinical trials are needed to explore the usefulness of starting eradication Pseudomonas therapy on the basis of only a positive PCR test, without waiting for the bacterial growth on conventional microbiological cultures.The usefulness of real time PCR could also be tested in the follow-up of eradication therapy efficacy