Objectives: Italy started elexacaftor/tezacaftor/ivacaftor (ETI) in July 2021. This study evaluated the global effects of ETI in a longitudinal study, assessing patients prior to and for 6 months after starting ETI. Measures focused on the "whole person" and included neurocognitive side-effects, physical, mental and health-related quality of life (HRQoL) outcomes. Methods: This was a prospective observational study that enrolled 92 consecutive pwCF, ages 12–59 years (F/M = 46/47; M age = 25.4). An ad-hoc measure, based on published literature, was developed to assess common neurocognitive side-effects on a 4-point Likert scale (e.g., headache, memory, concentration, insomnia, brain fog). Measures were administered within 2 weeks of initiating ETI and at 1, 3 and 6 months: FEV1, BMI, PHQ-9, GAD-7, GI Symptom Tracker (4 scales: Abdominal Symptoms, Stools, Eating Challenges, Adherence Challenges), Symbol Digit Modality Test (SDMT), neurocognitive side-effects, and CFQ-R. Results: As expected, improvements in FEV1 and BMI were observed across time. Neurocognitive side-effects were reported most frequently for headaches (27–30%) and memory (15%-20%), endorsed more often by females than males. Cognitive processing on the SDMT improved significantly by 6 months, but performance at baseline was 1 standard deviation below the mean. Few improvements in GI symptoms were reported over time. Depression, but not anxiety, improved by 3-months post-ETI and were sustained at 6 months. HRQoL improved on a majority of domains, except Body Image and Digestion. Improvements were most significant from baseline to 3-months, with decreases in some scales at 6-months. Conclusion: This is the first study to evaluate the effects of ETI on the whole person over time. A substantial percentage of women with CF reported neurocognitive side-effects. No improvements in GI symptoms were found. Improvements in other domains of functioning were reported for cognitive processing, depression, and HRQoL.

Correlation between multiple breath washout and spirometry in young cystic fibrosis children with pancreatic sufficiency Background: Spirometry is a standard tool to measure lung function in patients affected by cystic fibrosis (CF). Multiple breath washout (N2MBW) lung function test represents a marker to detect early obstructive lung disease in the younger paediatric population. Lung clearance index (LCI), the most frequently reported N2MBW outcome, is a measure of global ventilation inhomogeneity. Aims and objectives: to correlate LCI and spirometry with pancreatic status of CF children. Methods: we conducted an observational longitudinal single center study in pediatric CF patients followed at Bambino Gesù Children’s Hospital to execute spirometry and LCI during day hospital visits for a period of six months. Each patients performed three evaluations during the study period (every three months). LCI upper limit of normality of 7.91 was extrapolated from recently published data. Results: 30 CF patients were enrolled (M/F 17/13, mean age 10.23±4,01 yrs; FEV1 96,86%± 12,53; FVC 100,90%±11,25; BMI 19,50±4,94; LCI 2.5% 9.02±3,32). 24/30 patients (80%) had pancreatic insufficiency. Pancreatic sufficient patients had better mean LCI and FEV1 values (7.63 vs 9.20 and 99.5% vs 92.9%, respectively). Conclusions: CF patients with pancreatic sufficiency show better LCI and spirometry values, as expected in a milder CF phenotype. Long-term observation is required to analyze LCI trend to establish a certain correlation between pancreatic status and lung function measured by LCI and spirometry.

Abstract:Cystic fibrosis (CF) is the most common genetic disease in Caucasian people. Nutritional status represents an important key in the progression of the pulmonary disease in CF. People with better nutritional status, generally, maintain good levels of physical activity. Generally Bioelectrical impedance (BIA) analysis is frequently used as a method of body composition assessment, due to easy of use, safety and low cost of this procedure. The aim of this study was to investigate nutritional parameters in cystic fibrosis patient. We performed a single group cohort study. The study examined change in nutritional values in people with CF who practice sport or not, measured by bio-impedance analysis (BIA). Inclusion criteria were people with CF diagnosis confirmed. Primary outcome was evaluate body composition and the correlation with the rate of physical activity. A total of 32 patients were included in the analysis. The most important data was a correlation between Phangle and Body cellular mass index (BCMI) Pvalue<0.01, expecially in patients who had a good levels of aerobic and anaerobic session-training. Patients who did strong physical activity training had a statistically significant values of correlation with nutritional status. Further study were necessary to find association between exercise capa city and body mass index.

Figure 1.Responses to difference in current perceived stress level before and durring the pandemicConclusions: This is the first known descriptive study to look at effects of a worldwide pandemic on caregivers of young PwCF.It also is one of few studies examining caregiver perceived self-efficacy in CF.It was limited by the number of responses, skewed demographics of those who responded, and being administered at a single CF center.We found that caregivers of PwCF at our center are experiencing higher rates of stress, anxiety, and anger.This did not seem to affect their perceived self-efficacy, although there was no pre-pandemic measurement.We learned that we need to find ways to reach a larger demographic and those who are underrepresented.This study shows the need to better understand caregiver emotional distress, especially during times of ambiguity.Understanding caregiver stress and perceived self-efficacy has the potential to provide insight for the medical team on supportive ways to abate negative outcomes in young PwCF.

Background:Cystic fibrosis (CF) is the most common autosomal recessive genetic pathology of the Caucasian race and it affects nearly 100,000 people worldwide (many have not been diagnosed) and, in Italy, there are about 6000 patients. In the last few years, telemedicine has proved to be an effective home care tool for patients suffering from chronic pathologies. The advent of the COVID-19 pandemic has caused an increase of communications through mobile devices.Aim:To evaluate the role of telemonitoring during the pandemic phase of Covid-19.Materials and methods:34 (M 15, F 19) (M 44%, F 56%) Cystic Fi-brosis patients were evaluated; Median age ± SD 30.97±10.59 Median FEV1 2020 74.76; number of trasmission and hospital admissions.Results:It was evident that the absolute number of telemedicine visits increased from 1456 to 1605 in the pandemic year (10% more).Conclusions:Telemedicine became an important tool for home management of patients, in particular about chronic diseases. Telemonitoring, an integral part of telemedicine, underlined its effectiveness in all health emergency phase.

Objectives. Evaluation of the effectiveness of home care through a telemonitoring system in reducing the incidence of new colonization by Pseudomonas Aeruginosa in a population of patients with Cystic Fibrosis (CF) followed by the CF clinic of the Bambino Gesu Hospital in Rome over a period of 36 months. Materials and Methods. Two groups of patients were recruited, homogeneous for age, sex, BMI, FEV1, prevalence of CF-related Diabetes and CF-related Hepatopathy, access to new therapies with modulators: a) an IN group (N = 44) followed through a home telemonitoring system, b) an OUT control group (N = 110) followed according to the standards of care. The following parameters were detected for all patients: pulmonary colonization of the lungs, number and type of hospital admissions, respiratory function, BMI. Results. The OUT group had a statistically significant increase in the prevalence of Pseudomonas Aeruginosa infections during the observation period. Furthermore, a significant decrease in lung function assessed through FEV1 was also observed in the OUT group. Conclusions. Adolescent and adult patients belonging to the CF center who are not followed through the dedicated home telemonitoring service show, in the three-year period 2017-19, an increase in Pseudomonas Aeruginosa infections and a greater decrease in respiratory function. The use of telemedicine in CF is therefore an effective system not only in monitoring the disease but also as a treatment strategy, in the context of an evolving multidisciplinary model. As advantages, telemedicine can reduce the number of Pseudomonas Aeruginosa lung infections and the greater stability of respiratory function over time.

Conclusion:Our personalised transition pathway has helped reduce YP's self-reported anxiety and improved parents transition experience by providing increased opportunities to get to know the Adult team and discuss questions or concerns about the future.It has enabled seamless working and learning between Paediatric and Adult teams.

BACKGROUND:Among hospitalized adults and children pain is undertreated. This study wants to assess the effectiveness of pain therapy in two departments of a large children's hospital.MATERIALS AND METHODS:During a single day work three committees, administering a questionnaire to patients or parents, have evaluated the adherence to international recommendations (JCI and WHO) in the management of analgesic therapy. Patient demographics, prevalence and intensity (moderate and/or severe) of pain (during hospitalization, 24 hours before and at the time of the interview), analgesia (type, route, duration and frequency of administration) and Pain Management Index (=analgesic score-pain score) were recorded.RESULTS:75 patients participated in the study (age: 2 months up to 24 years, mean 7.8 ± 6). During hospitalization 43 children (57%) had no pain while 32 (43%) have experienced pain. 22 children (29 %) had pain 24 hours before and 12 (16%) at the time of the interview. The average value of the PMI was -0.8±1.3 with a minimum of -3 and a maximum of +2: 60% (19) of the children had a PMI less than 0 (undertreated pain) while 40% (13) had a value=or>0. Out of 32 patients who needed an analgesic therapy 14 (44%) received an around-the-clock dosing, 8 (25%) an intermittent therapy and 10 (31%) no treatment.17 (77 %) were the single drug therapy and 5 (23%) the multimodal ones.CONCLUSIONS:The prevalence of pain in the two departments is high. The main cause is that knowledge is not still well translated into clinical practice.

Background. Telemedical wound care is one of the possible applications of teledermatology. The treatment of pediatric wounds needs frequent and periodic assessments of their local status and adjustment of dressings choice.Material and methods. We present our experience using telemedicine in the successful assessment and treatment of 19 pediatric patients at the OPBG, Rome. Photographs with a digital camera were taken and sent weekly by mail to a wound care specialist in Rome. This allowed the expert to diagnose and evaluate the wounds periodically.Results. In the shown cases, telemedicine allowed us to have an immediate evaluation and therapy adjustment. The quality of the images was good enough that the physician could regularly evaluate the status of the wound and immediately give his feedback to the parents. Of these 19, 13 patients (68%) experienced a wound resolution during the remote monitoring period. The satisfaction of the parents detected at 3, 6 and 12 months was found to be respectively 57%, 71%, 84%.Conclusion. Reducing transportation to the hospital to obtain a specialist advice, wound teleconsultation lowers health care costs and improve the quality of life for pediatric patients and their family, while still maintaining a high quality of pediatric wound care.

In this chapter the main aspects of telemonitoring are described and discussed in the field of chronic respiratory diseases. The authors describe the various challenges they faced, in the order in which they did. First, they face the problem of effectiveness of the method, then, the problems related to the economic viability, and finally, the problems related to the operating method. The authors conclude that remote monitoring is a promising method in terms of effectiveness of follow-up that must be performed under well controlled conditions. They still require further validation studies to improve the effectiveness and reduce the effects of new issues that arise.

OBJECTIVES:In present study we tested the possible presence of a saving for Italian National Health Service (INHS) when using telemonitoring in the follow-up at home of patients with Cystic Fibrosis (CF), in the aim to assess the possible role of Telemedicine in rationalization of hospital admissions.MATERIALS AND METHODS:We performed an economic analysis of the costs incurred by the INHS for patients with CF followed at home by telemonitoring, recalled to hospital under suspicion or diagnosis of acute pulmonary recurrence.RESULTS:We calculated, for 19 patients retrieved in the period of the study, a total saving compared to traditional home care of € 132.144,91 in 24 months, corresponding to € 3.303,62/year/patient.CONCLUSIONS:The presence of an economic advantage for the INHS is confirmed once again, although not significant. The data from this study are encouraging regarding the possible role of telemedicine in the organization of homecare of CF patients.

OBJECTIVES:In the present study, we examined data related to adherence to telemonitoring in our CF patients followed at home for a period of 2 years, in the aim to improve the follow-up in terms of efficiency and appropriateness.MATERIALS AND METHODS:We kept electronic records of transmissions, in spreadsheet format. For each transmission, the main parameters and any action taken were collected. We carried out automatically a monthly summary of activities, a monthly average percentage of adherence to prescribed frequency of transmissions, monitored the contacts and phone calls.RESULTS:We received in the period from February 15, 2010 to February 15, 2012 overall 1364 transmissions in 515 days (1817 spirometry, 414 nocturnal pulse-oximetry and 398 questionnaires on symptoms) The average compliance in the reporting period was 10,16%, with an increasing trend.CONCLUSIONS:The improvement of outcome in FC necessarily passes through an improvement of the adherence to treatment. More psychological and behavioural studies are needed in order to gradually remove the obstacles which still prevent a further improvement in long-term outcome.