Journal of Cystic Fibrosis最新文献

{"title":"Establishment of a conditionally reprogrammed primary eccrine sweat gland culture for evaluation of tissue-specific CFTR function","authors":"Alice C. Eastman ,&nbsp;Gedge Rosson ,&nbsp;Noori Kim ,&nbsp;Sewon Kang ,&nbsp;Karen Raraigh ,&nbsp;Loyal A. Goff ,&nbsp;Christian Merlo ,&nbsp;Noah Lechtzin ,&nbsp;Garry R. Cutting ,&nbsp;Neeraj Sharma","doi":"10.1016/j.jcf.2024.06.013","DOIUrl":"10.1016/j.jcf.2024.06.013","url":null,"abstract":"<div><h3>Background</h3><div>Sweat chloride concentration is used both for CF diagnosis and for tracking CFTR modulator efficacy over time, but the relationship between sweat chloride and lung health is heterogeneous and informed by <em>CFTR</em><span><span> genotype. Here, we endeavored to characterize ion transport in eccrine </span>sweat glands (ESGs).</span></div></div><div><h3>Methods</h3><div><span>First, ESGs were microdissected from a non-CF skin donor to analyze individual glands. We established primary cultures of ESG cells via conditional reprogramming for functional testing of ion transport by short circuit current measurement and examined cell composition by single-cell RNA-sequencing (scRNA-seq) comparing with whole dissociated ESGs. Secondly, we cultured nasal epithelial (NE) cells and ESGs from two people with CF (pwCF) to assess modulator efficacy. Finally, NEs and ESGs were grown from one person with the </span><em>CFTR</em> genotype F312del/F508del to explore genotype-phenotype heterogeneity.</div></div><div><h3>Results</h3><div>ESG primary cells from individuals without CF demonstrated robust ENaC and CFTR function. scRNA-seq demonstrated both secretory and ductal ESG markers in cultured ESG cells. In both NEs and ESGs from pwCF homozygous for F508del, minimal baseline CFTR function was observed, and treatment with CFTR modulators significantly enhanced function. Notably, NEs from an individual bearing F312del/F508del exhibited significant baseline CFTR function, whereas ESGs from the same person displayed minimal CFTR function, consistent with observed phenotype.</div></div><div><h3>Conclusions</h3><div>This study has established a novel primary culture technique for ESGs that allows for functional ion transport measurement to assess modulator efficacy and evaluate genotype-phenoytpe heterogeneity. To our knowledge, this is the first reported application of conditional reprogramming and scRNA-seq of microdissected ESGs.</div></div>","PeriodicalId":15452,"journal":{"name":"Journal of Cystic Fibrosis","volume":"23 6","pages":"Pages 1173-1179"},"PeriodicalIF":5.4,"publicationDate":"2024-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141537894","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Heterogeneity in response to Elexacaftor/Tezacaftor/Ivacaftor in people with cystic fibrosis","authors":"Gianfranco Alicandro ,&nbsp;Andrea Gramegna ,&nbsp;Federica Bellino ,&nbsp;Sathya Calogero Sciarrabba ,&nbsp;Chiara Lanfranchi ,&nbsp;Martina Contarini ,&nbsp;Mariangela Retucci ,&nbsp;Valeria Daccò ,&nbsp;Francesco Blasi","doi":"10.1016/j.jcf.2024.04.013","DOIUrl":"10.1016/j.jcf.2024.04.013","url":null,"abstract":"<div><h3>Background</h3><div>Highly effective modulators of the CFTR channel have been demonstrated to dramatically impact disease progression and outcome. However, real-world data indicates that the magnitude of the clinical benefit is not equal among all patients receiving the treatment. We aimed to assess the variability in treatment response (as defined by the 6-month change in sweat chloride concentration, forced expiratory volume in one second [ppFEV1], body mass index [BMI], and CF Questionnaire-Revised [CFQ-R] respiratory domain score) and identify potential predictors in a group of patients receiving Elexacaftor-Tezacaftor-Ivacaftor (ETI) triple combination therapy.</div></div><div><h3>Methods</h3><div>This was a single-center, prospective cohort study enrolling adults with CF at a major center in Italy. We used linear regression models to identify a set of potential predictors (including CFTR genotype, sex, age, and baseline clinical characteristics) and estimate the variability in treatment response.</div></div><div><h3>Results</h3><div>The study included 211 patients (median age: 29 years, range: 12–58). Median changes (10–90th percentile) from baseline were: - 56 mEq/L (–76; –27) for sweat chloride concentration, +14.5 points (2.5; 32.0) for ppFEV1, +0.33 standard deviation scores (–0.13; 1.05) for BMI and +17 points (0; 39) for the CFQ-R respiratory domain score. The selected predictors explained 23 % of the variability in sweat chloride concentration changes, 18 % of the variability in ppFEV1 changes, 39 % of the variability in BMI changes, and 65 % of the variability in CFQ-R changes.</div></div><div><h3>Conclusions</h3><div>This study highlights a high level of heterogeneity in treatment response to ETI, which can only be partially explained by the baseline characteristics of the disease.</div></div>","PeriodicalId":15452,"journal":{"name":"Journal of Cystic Fibrosis","volume":"23 6","pages":"Pages 1072-1079"},"PeriodicalIF":5.4,"publicationDate":"2024-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140904207","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Identifying people living with cystic fibrosis in the Danish National Patient Registry: A validation study","authors":"Hans Kristian Råket ,&nbsp;Joanna Nan Wang ,&nbsp;Janne Petersen ,&nbsp;Tacjana Pressler ,&nbsp;Hanne Vebert Olesen ,&nbsp;Søren Jensen-Fangel ,&nbsp;Thomas Bryrup ,&nbsp;Espen Jimenez-Solem ,&nbsp;Camilla Bjørn Jensen","doi":"10.1016/j.jcf.2024.05.003","DOIUrl":"10.1016/j.jcf.2024.05.003","url":null,"abstract":"<div><h3>Background</h3><div>The Danish National Patient Registry (DNPR) serves as a valuable resource for scientific research. However, to ensure accurate results in cystic fibrosis (CF) studies that rely on DNPR data, a robust case-identification algorithm is essential. This study aimed to develop and validate algorithms for the reliable identification of CF patients in the DNPR.</div></div><div><h3>Methods</h3><div>Using the Danish Cystic Fibrosis Registry (DCFR) as a reference, accuracy measures including sensitivity and positive predictive value (PPV) for case-finding algorithms deployed in the DNPR were calculated. Algorithms were based on minimum number of hospital contacts with CF as the main diagnosis and minimum number of days between first and last contact.</div></div><div><h3>Results</h3><div>An algorithm requiring a minimum of one hospital contact with CF as the main diagnosis yielded a sensitivity of 96.1 % (95 % CI: 94.2 %; 97.4 %) and a PPV of 84.9 % (82.0 %; 87.4 %). The highest-performing algorithm required minimum 2 hospital visits and a minimum of 182 days between the first and the last contact and yielded a sensitivity of 95.9 % (95 % CI: 94.1 %; 97.2 %), PPV of 91.0 % (95 % CI: 88.6 %; 93.0 %) and a cohort entry delay of 3.2 months at the 75th percentile (95th percentile: 38.7 months).</div></div><div><h3>Conclusions</h3><div>The DNPR captures individuals with CF with high sensitivity and is a valuable resource for CF-research. PPV was improved at a minimal cost of sensitivity by increasing requirements of minimum number of hospital contacts and days between first and last contact. Cohort entry delay increased with number of required hospital contacts.</div></div>","PeriodicalId":15452,"journal":{"name":"Journal of Cystic Fibrosis","volume":"23 6","pages":"Pages 1095-1099"},"PeriodicalIF":5.4,"publicationDate":"2024-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140904222","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Development and preliminary validation of the personalized cystic fibrosis medication questionnaire (PCF-MQ)","authors":"Hanna Phan ,&nbsp;Cori L Daines ,&nbsp;Ti Woo ,&nbsp;Kevin J. Psoter ,&nbsp;Andrea Goodman ,&nbsp;Emma McWilliams ,&nbsp;Carla Frederick ,&nbsp;Carlos Milla ,&nbsp;Gabriela Oates ,&nbsp;Gregory S. Sawicki ,&nbsp;Kristin A. Riekert","doi":"10.1016/j.jcf.2024.05.011","DOIUrl":"10.1016/j.jcf.2024.05.011","url":null,"abstract":"<div><h3>Background</h3><div>A personalized approach to assessing medication knowledge may identify opportunities for education to support self-management of cystic fibrosis (CF). This project describes the development, scoring, and preliminary validity of the Personalized CF Medication Questionnaire (PCF-MQ), designed to assess knowledge of prescribed CF medication purpose, administration, and dose and frequency.</div></div><div><h3>Methods</h3><div>Participants completed the PCF-MQ, the Knowledge of Disease Management (KDM-CF), and the Cystic Fibrosis-Medication Beliefs Questionnaire (CF-MBQ). Prescribed regimens were abstracted from medical records. Eligibility criteria were age 12 years and older, diagnosed with CF, and prescribed a CF medication. Statistical analyses were conducted using R software. Spearman rho was used to test correlations between measures.</div></div><div><h3>Results</h3><div>Sixty people with CF (pwCF) were enrolled; three people reported a regimen that substantially deviated from the medical record and were excluded from the analyses. The mean (SD) age was 20.2 (7.3) years, 54 % were female, and 74 % had a FEV1pp ≥70 %. The mean (SD) PCF-MQ total score was 77.8 (12.3) and knowledge scores ranged from a low of 58.3 for levalbuterol to 100 for ivacaftor. The PCF-MQ total score correlated with the KDM total score and subscales (Spearman Rho= 0.32–0.59, <em>p</em> &lt; 0.05) and was not correlated with the CF-MBQ subscales (<em>p</em> &gt; 0.05)).</div></div><div><h3>Conclusions</h3><div>The PCF-MQ was correlated with another measure of general CF knowledge, but not health beliefs; because of the small sample size, this should be considered preliminary evidence of its validity. Advantages over existing CF knowledge measures include its practicality for use to help assess pwCF's knowledge about their prescribed regimen.</div></div>","PeriodicalId":15452,"journal":{"name":"Journal of Cystic Fibrosis","volume":"23 6","pages":"Pages 1100-1105"},"PeriodicalIF":5.4,"publicationDate":"2024-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141293423","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"TLN468 changes the pattern of tRNA used to read through premature termination codons in CFTR","authors":"Sabrina Karri ,&nbsp;David Cornu ,&nbsp;Claudia Serot ,&nbsp;Lynda Biri ,&nbsp;Aurélie Hatton ,&nbsp;Elise Dréanot ,&nbsp;Camille Rullaud ,&nbsp;Iwona Pranke ,&nbsp;Isabelle Sermet-Gaudelus ,&nbsp;Alexandre Hinzpeter ,&nbsp;Laure Bidou ,&nbsp;Olivier Namy","doi":"10.1016/j.jcf.2024.07.017","DOIUrl":"10.1016/j.jcf.2024.07.017","url":null,"abstract":"<div><div>Nonsense mutations account for 12 % of cystic fibrosis (CF) cases. The presence of a premature termination codon (PTC) leads to gene inactivation, which can be countered by the use of drugs stimulating PTC readthrough, restoring production of the full-length protein. We recently identified a new readthrough inducer, TLN468, more efficient than gentamicin.</div><div>We measured the readthrough induced by these two drugs with different cystic fibrosis transmembrane conductance regulator (CFTR) PTCs. We then determined the amino acids inserted at the S1196X, G542X, W846X and E1417X PTCs of <em>CFTR</em> during readthrough induced by gentamicin or TLN468. TLN468 significantly promoted the incorporation of one specific amino acid, whereas gentamicin did not greatly modify the proportions of the various amino acids incorporated relative to basal conditions<em>.</em> The function of the engineered missense CFTR channels corresponding to these four PTCs was assessed with and without potentiator. For the recoded CFTR, except for E1417Q and G542W, the PTC readthrough induced by TLN468 allowed the expression of CFTR variants that were correctly processed and had significant activity that was enhanced by CFTR modulators. These results suggest that it would be relevant to assess the therapeutic benefit of TLN468 PTC suppression in combination with CFTR modulators in preclinical assays.</div></div>","PeriodicalId":15452,"journal":{"name":"Journal of Cystic Fibrosis","volume":"23 6","pages":"Pages 1185-1194"},"PeriodicalIF":5.4,"publicationDate":"2024-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141889389","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Calibrating sweat chloride levels to CFTR activity via ETI effects on CF subjects with one or two F508DEL mutations","authors":"Jeffrey J. Wine","doi":"10.1016/j.jcf.2024.09.004","DOIUrl":"10.1016/j.jcf.2024.09.004","url":null,"abstract":"<div><h3>Background</h3><div>It is difficult to determine CFTR activity following highly effective CFTR modulator therapies (HEMT). The sweat gland provides two biomarkers of CFTR activity: a linear readout via the β-sweat rate and a logarithmic readout via sweat chloride concentration (SCC). In prior work, different logarithmic functions were generated to calibrate SCC with the percent of healthy control CFTR activity (HC<img>CFTR). Two functions, A and B, were fit to SCC means from healthy controls set = 100 % and CF carriers measured as 50 % HC<img>CFTR. A and B differ in the % HC<img>CFTR activity assigned to SCC for minimal function mutations = 0.01 % for A and 1 % for B.</div></div><div><h3>Methods</h3><div>Here, the functions are evaluated based on retrospective analysis of three multi-center studies of CF subjects with one or two F508del mutations treated with Elexacaftor/Tezacaftor/Ivacaftor (ETI). Predictions of the percent HC<img>CFTR activity for one vs two mutations were compared for the two functions. The expectation is that after ETI treatment, subjects with two responsive mutations will have 2-fold higher HC<img>CFTR activity than subjects with only one. The hypothesis is that the SCC<img>HC<img>CFTR function that most closely fits that expectation provides the more accurate prediction of CFTR activity.</div></div><div><h3>Results</h3><div>In two separate comparisons, function B most accurately predicted a 2-fold (1.9, 2.3-fold) higher level of HC<img>CFTR activity in subjects on ETI with two vs. one responsive mutation. Function A predicted a 4, 5.5-fold higher level.</div></div><div><h3>Conclusions</h3><div>Function B predicts that 60 mmol/L SCC, the cutoff for a CF diagnosis, is associated with 10 % HC<img>CFTR activity. Comparing HEMT effects on subjects with one or two mutations provides an additional tool for calibrating SCC to CFTR activity.</div></div>","PeriodicalId":15452,"journal":{"name":"Journal of Cystic Fibrosis","volume":"23 6","pages":"Pages 1180-1184"},"PeriodicalIF":5.4,"publicationDate":"2024-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142466563","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Elexacaftor/Tezacaftor/Ivacaftor use in Pediatric Cystic Fibrosis Patients with Advanced Liver Disease","authors":"Hannah E Protich ,&nbsp;Jean P Molleston ,&nbsp;Molly Bozic ,&nbsp;Rebecca S Pettit","doi":"10.1016/j.jcf.2024.03.011","DOIUrl":"10.1016/j.jcf.2024.03.011","url":null,"abstract":"<div><h3>Background</h3><div>Cystic fibrosis transmembrane conductance regulator (CFTR) modulator therapy extends the life expectancy of people with cystic fibrosis (PwCF). However, CFTR modulators have not been well studied in patients with cystic fibrosis liver disease (CFLD), specifically those with advanced liver disease with portal hypertension. The purpose of this report is to describe the use of elexacaftor/tezacaftor/ivacaftor (ETI) in pediatric CF patients with advanced CFLD.</div></div><div><h3>Methods</h3><div>This retrospective case series included PwCF &lt; 18 years old with baseline advanced CFLD initiated on ETI.</div></div><div><h3>Results</h3><div>Eleven PwCF and advanced CFLD were treated with ETI; six started a reduced dose regimen. No patient required treatment interruption and four patients received dose changes related to increase in transaminase and/or bilirubin elevations. Mean (SD) change in ppFEV1 from prior to ETI to highest value during therapy was 14.27 % (4.25) (<em>p</em> = 0.007). When evaluating the group as whole, AST decreased from baseline to last reported –15.18 (23.23) units/L (<em>p</em> = 0.054) and ALT slightly increased 0.73 (39.13) units/L (<em>p</em> = 0.96). Bilirubin increased minimally overall for patients with mean change from baseline of 0.83 (1.33) mg/dL [range –0.5–3] (<em>p</em> = 0.17). A model for time on ETI showed a significant decrease in AST over time of 0.955 per month of ETI but no other liver biochemistries were significant. No patient experienced decompensation of CFLD.</div></div><div><h3>Conclusion</h3><div>ETI therapy in pediatric CF patients with advanced CFLD can be beneficial in improving pulmonary and nutritional outcomes without negative impact on liver biochemistries or hepatic outcomes. Close monitoring is recommended to ensure safety and tolerability.</div></div>","PeriodicalId":15452,"journal":{"name":"Journal of Cystic Fibrosis","volume":"23 6","pages":"Pages 1122-1128"},"PeriodicalIF":5.4,"publicationDate":"2024-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140870391","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Changes in exercise capacity in people with Cystic Fibrosis after one year of Elexacaftor/Tezacaftor/Ivacaftor treatment – A Danish prospective cohort","authors":"Lue Katrine Drasbæk Philipsen ,&nbsp;Hanne Vebert Olesen ,&nbsp;Janne Hastrup Jensen ,&nbsp;Mette Frahm Olsen ,&nbsp;Daniel Faurholt-Jepsen ,&nbsp;Frederik Buchvald ,&nbsp;Kim Gjerum Nielsen ,&nbsp;Marianne Skov ,&nbsp;Tacjana Pressler","doi":"10.1016/j.jcf.2024.04.010","DOIUrl":"10.1016/j.jcf.2024.04.010","url":null,"abstract":"<div><h3>Background</h3><div>Cystic Fibrosis (CF) is an inherited multiorgan disease that causes lung damage and early death. People with CF (pwCF) experience diminished exercise capacity compared to the general population. This is due to an accelerated decline in lung function resulting from recurrent lung infections, declining lung function and nutritional challenges. Since 2020 the CFTR-modulator Elexacaftor/Tezacaftor/Ivacaftor (ETI) has been approved for pwCF aged 12 and above in Denmark. Initial experiences with the medication have shown promising results, including improved lung function and disease stability. To date a limited number of studies have evaluated the impact of CFTR-modulators on exercise capacity in pwCF.</div></div><div><h3>Objective</h3><div>The study aims to assess the impact of one year of ETI treatment, without any further intervention, on exercise capacity measured through cardiopulmonary exercise test (CPET) in pwCF aged 12 years and above.</div></div><div><h3>Methods</h3><div>A Danish prospective registry cohort study including pwCF from CF-Center Copenhagen, Copenhagen University Hospital and CF-Center Aarhus, Aarhus University Hospital. Participants underwent CPET before initiating ETI and at follow up one year later. Primary outcomes were VO₂ peak (ml/kg/min), secondary outcomes were VO2 peak (ml/min), VO2 peak (% pred), watt-max, HR-max and saturation at max. The difference between baseline and follow-up was assessed using a paired-sample <em>t</em>-test and regression analyses were applied to relevant outcomes.</div></div><div><h3>Results</h3><div>We included 229 pwCF in the analyses. An increase in oxygen uptake, VO₂ peak (ml/kg/min) from baseline to follow-up was observed; 0.6, 95% CI [0.06; 1.09] <em>p</em> = 0.03. Moreover, significant increase was noted for all other CPET outcomes. Regression analysis showed that changes in FEV₁% pred and BMI could explain some of the differences, 0.05 ml/kg/min, 95% CI [0.01, 0.1] <em>p</em> = 0.02 and -0.5 ml/kg/min, 95% CI [-0.8, -0.2] <em>p</em> = 0.002 respectively.</div></div><div><h3>Conclusion</h3><div>Among Danish pwCF we found a significant, but not clinically relevant, increase in oxygen uptake, after one year of ETI treatment.</div></div>","PeriodicalId":15452,"journal":{"name":"Journal of Cystic Fibrosis","volume":"23 6","pages":"Pages 1080-1086"},"PeriodicalIF":5.4,"publicationDate":"2024-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140850837","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Echocardiographic assessment of cardiovascular involvements in children with cystic fibrosis","authors":"Hosseinali Ghaffaripour ,&nbsp;Ali Reza Norouzi ,&nbsp;Maryam Hassanzad ,&nbsp;Fariba Alaei ,&nbsp;Mohammad Reza Khalilian ,&nbsp;Hojjat Derakhshanfar ,&nbsp;Nasrin Elahi Mehr","doi":"10.1016/j.jcf.2024.04.012","DOIUrl":"10.1016/j.jcf.2024.04.012","url":null,"abstract":"<div><h3>Background</h3><div>Over the past four decades, numerous case reports and clinical studies have highlighted the presence of heart disease in individuals with cystic fibrosis. Given the limited information in this field and the imperative to identify early changes during childhood, our study aims to explore cardiac dysfunction in patients with cystic fibrosis using echocardiography.</div></div><div><h3>Methods</h3><div>In this case-control study, we examined echocardiographic findings from thirty-three patients with cystic fibrosis and sixty healthy children. Demographic information for both groups was recorded, and the disease severity in patients was assessed using the Schawachman criterion. M-mode, Doppler flow velocity, and Tissue Doppler Imaging echocardiography were performed for all participants, with subsequent data analysis using SPSS 24.</div></div><div><h3>Results</h3><div>Our study encompassed thirty-three CF patients and sixty healthy children. The estimated pulmonary artery blood pressure (systolic and mean) in patients with cystic fibrosis was significantly higher than in the control group (<em>P</em> &lt; 0.05). Additionally, the mean trans-tricuspid peak early to late diastolic flow velocity (E/A) was significantly lower in the case group than the control group (<em>P</em> &lt; 0.05), along with a significantly lower mean tricuspid valve deceleration time (DT) (<em>P</em> &lt; 0.05). Similarly, the mean TAPSE in the case group was notably lower than in the control group (<em>P</em> &lt; 0.05). No significant difference in Mean left ventricular Ejection Fraction (EF) and Fractional Shortening (FS) existed between the two groups (<em>P</em> &gt; 0.05). Furthermore, Trans-mitral peak early to late diastolic flow velocity (E/A) in the case group was significantly lower than in the control group (<em>P</em> &lt; 0.05), and the mean mitral valve DT in the case group was also significantly lower (<em>P</em> &lt; 0.05).</div></div><div><h3>Conclusion</h3><div>Our study findings indicate the presence of some degree of right ventricular dysfunction in children with cystic fibrosis. This finding may have implications for the development or modification of clinical guidelines for managing cystic fibrosis in children. Further investigations are recommended to elucidate the underlying mechanisms and contributing factors, providing valuable insights for clinical management.</div></div>","PeriodicalId":15452,"journal":{"name":"Journal of Cystic Fibrosis","volume":"23 6","pages":"Pages 1134-1137"},"PeriodicalIF":5.4,"publicationDate":"2024-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140865343","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"The day after. Rethinking the Cystic Fibrosis model of care and structure of the CF team in the era of triple combination therapy","authors":"Philippe Reix","doi":"10.1016/j.jcf.2024.09.016","DOIUrl":"10.1016/j.jcf.2024.09.016","url":null,"abstract":"","PeriodicalId":15452,"journal":{"name":"Journal of Cystic Fibrosis","volume":"23 6","pages":"Pages 1043-1044"},"PeriodicalIF":5.4,"publicationDate":"2024-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142347595","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}