Journal of Cystic Fibrosis最新文献_第8页

Does using the Lung Clearance Index (LCI) inform clinical decisions in children with cystic fibrosis? 使用肺清除率指数（LCI）对囊性纤维化儿童的临床决策有帮助吗？

IF 5.4 2区医学

Journal of Cystic Fibrosis Pub Date : 2025-01-11 DOI: 10.1016/j.jcf.2024.12.001

Lucy Perrem, Stephanie Jeanneret-Manning, Stephanie D Davis, Margaret Rosenfeld, Todd Edwards, Sanja Stanojevic, Felix Ratjen

{"title":"Does using the Lung Clearance Index (LCI) inform clinical decisions in children with cystic fibrosis?","authors":"Lucy Perrem, Stephanie Jeanneret-Manning, Stephanie D Davis, Margaret Rosenfeld, Todd Edwards, Sanja Stanojevic, Felix Ratjen","doi":"10.1016/j.jcf.2024.12.001","DOIUrl":"https://doi.org/10.1016/j.jcf.2024.12.001","url":null,"abstract":"Introduction: The Lung Clearance Index (LCI) is an established research test, but its role in clinical decision-making is not well defined. This study estimated the proportion of treatment decisions that are changed or supported by the added information provided by LCI.Methods: A mixed methods prospective observational study was conducted in North America. Providers were invited to participate in a clinical vignette survey consisting of 10 hypothetical scenarios involving pediatric cystic fibrosis (CF) management. First, they made a clinical decision based on information captured in routine clinical visits. Then, the LCI value was made available, and providers were asked whether the LCI changed or supported their decision. A prospective study was also conducted at three CF centres to determine how often physicians make pulmonary treatment decisions at CF clinic visits and how often they perceive additional lung function data would be helpful for these decisions.Results: We received 522 vignette responses from 62 participants. LCI changed the decision in 18.4 % of cases, supported the decision in 57.1 % and did not impact the decision in 24.5 %. Data from patient encounters in the prospective study demonstrated that changes to pulmonary treatments were considered in 98/322 (30.4 %) visits; additional lung function information could potentially have helped in 64.3 % of the treatment decisions.Conclusion: LCI changes or supports a significant proportion of treatment decisions. Providers perceive that additional information about lung function could be helpful at the majority of encounters where changes in treatment are considered.","PeriodicalId":15452,"journal":{"name":"Journal of Cystic Fibrosis","volume":" ","pages":""},"PeriodicalIF":5.4,"publicationDate":"2025-01-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142971030","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}

引用次数: 0

Clinical features associated with self-reported food insecurity in people with cystic fibrosis. 囊性纤维化患者自我报告食物不安全的临床特征

IF 5.4 2区医学

Journal of Cystic Fibrosis Pub Date : 2025-01-09 DOI: 10.1016/j.jcf.2024.12.005

Heather Boas, Jesse Y Hsu, Allen Koshy, Semret Seyoum, Marsha Regenstein, Gina Hong, Olivia Dieni, Anne Willis, Clement L Ren

{"title":"Clinical features associated with self-reported food insecurity in people with cystic fibrosis.","authors":"Heather Boas, Jesse Y Hsu, Allen Koshy, Semret Seyoum, Marsha Regenstein, Gina Hong, Olivia Dieni, Anne Willis, Clement L Ren","doi":"10.1016/j.jcf.2024.12.005","DOIUrl":"https://doi.org/10.1016/j.jcf.2024.12.005","url":null,"abstract":"Background: Food insecurity (FI) is more prevalent in people with cystic fibrosis (PwCF) than the reported national prevalence, but there are limited data on the relationship between FI and health outcomes in PwCF. The objective of this study was to analyze the relationship between FI in PwCF and pulmonary and nutritional status.Methods: We leveraged an electronic cross-sectional survey that ascertained FI status and gave participants the option to link their survey data to their records in the Cystic Fibrosis Foundation Patient Registry (CFFPR). Linear regression and negative binomial models were used to estimate the associations in mean differences between FI and percent predicted FEV1 (ppFEV1), nutritional indices, and hospitalizations.Results: There were 1,856 respondents, 1,234 (66.5 %) of whom granted permission to link to the CFFPR. FI was present in 352 (28 %) of the respondents. FI was associated with lower ppFEV1 (-6.5; 95 % CI -9.9, -3.1); however, this was no longer statistically significant after adjusting for confounders. FI was independently associated with increased hospitalizations. Higher weight for age was significantly associated with FI in the adjusted model, but there were no significant associations between height for age or absolute weight and body mass index (BMI) in adults.Conclusions: FI in PwCF is associated with adverse health outcomes. These results support screening for FI during routine visits. Further studies are needed to investigate causal relationships between FI and adverse clinical outcomes.","PeriodicalId":15452,"journal":{"name":"Journal of Cystic Fibrosis","volume":" ","pages":""},"PeriodicalIF":5.4,"publicationDate":"2025-01-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142965139","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}

引用次数: 0

Dry eye disease and morphological changes in the anterior chamber in people with cystic fibrosis. 囊性纤维化患者的干眼病和前房形态学改变

IF 5.4 2区医学

Journal of Cystic Fibrosis Pub Date : 2025-01-07 DOI: 10.1016/j.jcf.2024.12.009

Patricia Gutiérrez, Laura Jiménez, Jessica Martínez, Carmen Alba, María Victoria Girón, Gabriel Olveira, Pedro Ruiz-Esteban, Casilda Olveira

{"title":"Dry eye disease and morphological changes in the anterior chamber in people with cystic fibrosis.","authors":"Patricia Gutiérrez, Laura Jiménez, Jessica Martínez, Carmen Alba, María Victoria Girón, Gabriel Olveira, Pedro Ruiz-Esteban, Casilda Olveira","doi":"10.1016/j.jcf.2024.12.009","DOIUrl":"https://doi.org/10.1016/j.jcf.2024.12.009","url":null,"abstract":"Background: Cystic fibrosis (CF) is caused by variants in a gene that encodes a protein essential for water and ion transport in the epithelial cells of exocrine organs. Given the possible relationship of this protein and conjunctival and corneal epithelium, the aim of this study was to evaluate ophthalmologic alterations in people with CF.Methods: Forty-five people with CF underwent pulmonary evaluation including inflammatory score (IS). These people along with 98 sex-matched controls underwent ophthalmologic evaluation including dry eye disease (DED) testing, corneal topography using Pentacam™ and macular and peripapillary retinal nerve fiber layer (pRNFL) thickness with optical coherence tomography (OCT).Results: The CF group presented a higher percentage of pathologic tear break-up time (T-BUT) (55.6 % vs 25 %, p = 0.001) and Schirmer's test 1 (40 % versus 19.4 %, p = 0.009) than the control group. In the CF group, an inverse correlation was observed between T-BUT and IS (r=- 0.373, p = 0.012), as well as T-BUT and peripheral eosinophilia (r=-0.338; p = 0.023). People with CF presented lower values of central corneal thickness (p = 0.009), thinnest point (p = 0.006), anterior chamber volume (p = 0.034), and anterior chamber angle (p = 0.011) than the control group and lower pRNLF thickness in the superior temporal sector (p = 0.002).Conclusions: Our findings indicate a higher prevalence of dry eye disease (DED) among people with CF compared to controls. The severity of the condition increases with higher systemic inflammation. Additionally, CF may affect the anterior segment of the eye, leading to a reduction in the nerve fiber layer and early signs of glaucoma.","PeriodicalId":15452,"journal":{"name":"Journal of Cystic Fibrosis","volume":" ","pages":""},"PeriodicalIF":5.4,"publicationDate":"2025-01-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142949652","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}

引用次数: 0

Lung-kidney axis in cystic fibrosis: Early urinary markers of kidney injury correlate with neutrophil activation and worse lung function. 囊性纤维化的肺肾轴：肾损伤的早期尿标志物与中性粒细胞活化和肺功能恶化相关。

IF 5.4 2区医学

Journal of Cystic Fibrosis Pub Date : 2025-01-02 DOI: 10.1016/j.jcf.2024.12.007

Grace M Rosner, Himanshu B Goswami, Katherine Sessions, Lindsay K Mendyka, Brenna Kerin, Irma Vlasac, Diane Mellinger, Lorraine Gwilt, Thomas H Hampton, Martha Graber, Alix Ashare, William T Harris, Brock Christensen, Bruce A Stanton, Agnieszka Swiatecka-Urban, Sladjana Skopelja-Gardner

{"title":"Lung-kidney axis in cystic fibrosis: Early urinary markers of kidney injury correlate with neutrophil activation and worse lung function.","authors":"Grace M Rosner, Himanshu B Goswami, Katherine Sessions, Lindsay K Mendyka, Brenna Kerin, Irma Vlasac, Diane Mellinger, Lorraine Gwilt, Thomas H Hampton, Martha Graber, Alix Ashare, William T Harris, Brock Christensen, Bruce A Stanton, Agnieszka Swiatecka-Urban, Sladjana Skopelja-Gardner","doi":"10.1016/j.jcf.2024.12.007","DOIUrl":"https://doi.org/10.1016/j.jcf.2024.12.007","url":null,"abstract":"Background: Adult people with cystic fibrosis (PwCF) have a higher risk of end-stage kidney disease than the general population. The nature and mechanism of kidney disease in CF are unknown. This study quantifies urinary kidney injury markers and examines the hypothesis that neutrophil activation and lung infection are associated with early kidney injury in CF.Methods: Urinary total protein, albumin, and markers of kidney injury and neutrophil activation, normalized to creatinine, as well as urinary immune cells, were quantified in adult CF and healthy cohorts. Infection burden and chronicity were defined by sputum culture and serum titers of anti-bacterial antibodies.Results: PwCF had increased urinary protein levels, consisting of low-molecular-weight tubular injury markers, independent of glomerular filtration rate (eGFR). This finding suggests subclinical renal injury processes. Urinary analysis of the CF cohort identified different associations of urinary injury markers with aminoglycoside exposure, lung function, and neutrophil activation. High urinary KIM-1 levels and increased prevalence of neutrophils among urine immune cells correlated with decreased lung function in PwCF. The relationship between tubular injury and reduced lung function was most prominent in patients harboring chronic Pseudomonas aeruginosa infection.Conclusions: Increased urinary tubular injury markers in PwCF suggest early subclinical renal injury not readily detected by eGFR. The strong association of high urinary KIM-1 and neutrophils with diminished lung function and high Pseudomonas aeruginosa burden suggests that pulmonary disease may contribute to renal injury in CF.","PeriodicalId":15452,"journal":{"name":"Journal of Cystic Fibrosis","volume":" ","pages":""},"PeriodicalIF":5.4,"publicationDate":"2025-01-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142927254","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}

引用次数: 0

Gene expression profile of intestinal organoids from people with cystic fibrosis upon exposure to elexacaftor/tezacaftor/ivacaftor 暴露于 elexacaftor/tezacaftor/ivacaftor 后囊性纤维化患者肠道器官组织的基因表达谱。

IF 5.4 2区医学

Journal of Cystic Fibrosis Pub Date : 2025-01-01 DOI: 10.1016/j.jcf.2024.09.005

Ondrej Cinek , Eva Furstova , Stepanka Novotna , Klara Hubackova , Tereza Dousova , Lucie Borek-Dohalska , Pavel Drevinek

{"title":"Gene expression profile of intestinal organoids from people with cystic fibrosis upon exposure to elexacaftor/tezacaftor/ivacaftor","authors":"Ondrej Cinek , Eva Furstova , Stepanka Novotna , Klara Hubackova , Tereza Dousova , Lucie Borek-Dohalska , Pavel Drevinek","doi":"10.1016/j.jcf.2024.09.005","DOIUrl":"10.1016/j.jcf.2024.09.005","url":null,"abstract":"<div><div>The forskolin-induced swelling assay (FIS) in patient-derived intestinal organoids (PDIOs), used to determine in vitro responsiveness to elexacaftor/tezacaftor/ivacaftor (ETI), showed variability in swelling among PDIOs obtained from people with CF (pwCF) carrying the same F508del/F508del CFTR genotype. We aimed to characterise the effect of ETI on the transcriptional activity of PDIOs-derived cells to understand the intracellular processes triggered by ETI and the differences in treatment response. Six high- and six low-responding PDIOs to ETI, derived from F508del/F508del pwCF, were incubated with or without ETI for 2 to 6 h. Gene expression was assessed using 3′-mRNA sequencing and modelled using negative binomial models. Incubation with ETI resulted in a significant upregulation of several biological processes: mostly related to chemokines and signalling, chemotaxis, and tissue development processes. No changes were observed in abundance of the CFTR transcripts or in CFTR-related gene sets and pathways. The genes and pathways associated with ETI did not overlap with those whose expression changed with time only. PDIOs with a high FIS response did not significantly differ in any interpretable gene from the FIS-low organoids. The changes in the PDIOs gene expression upon the exposure to ETI cannot explain differences in the magnitude of PDIOs FIS-measured response to ETI. In conclusion, on incubation with ETI, genes of the CFTR-related pathways do not change their transcriptional activity; instead, overexpression was observed in genes of inflammatory-like cytokine response and receptor activation pathways.</div></div>","PeriodicalId":15452,"journal":{"name":"Journal of Cystic Fibrosis","volume":"24 1","pages":"Pages 157-163"},"PeriodicalIF":5.4,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142288300","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}

引用次数: 0

Regulatory delays in approval of CFTR modulating agents in Canada 加拿大 CFTR 调节剂审批的监管延误。

IF 5.4 2区医学

Journal of Cystic Fibrosis Pub Date : 2025-01-01 DOI: 10.1016/j.jcf.2024.09.023

Christina S. Thornton , Stephen E. Congly

引用次数: 0

Elevated liver function tests in infants exposed to elexacaftor-tezacaftor-ivacaftor in utero and while breastfeeding – Case reports 在子宫内和母乳喂养期间暴露于 elexacaftor-tezacaftor-ivacaftor 的婴儿肝功能检测升高 - 病例报告。

IF 5.4 2区医学

Journal of Cystic Fibrosis Pub Date : 2025-01-01 DOI: 10.1016/j.jcf.2024.09.025

Theresa Jane Kolaczkowski , Amanda Bevan , Julian Legg , Jay Self , Mark Allenby

引用次数: 0

Elexacaftor/tezacaftor/ivacaftor efficacy in intestinal organoids with rare CFTR variants in comparison to CFTR-F508del and CFTR-wild type controls 与 CFTR-F508del 和 CFTR 野生型对照组相比，Elexacaftor/tezacaftor/ivacaftor 在具有罕见 CFTR 变异的肠器官组织中的疗效。

IF 5.4 2区医学

Journal of Cystic Fibrosis Pub Date : 2025-01-01 DOI: 10.1016/j.jcf.2024.09.019

Suzanne Kroes , Marlou C. Bierlaagh , Juliet W. Lefferts , Alessandra Boni , Danya Muilwijk , Carla Viscomi , Natascha D.A. Keijzer-Nieuwenhuijze , Luca Cristiani , Paul J. Niemöller , Tibo F. Verburg , Renato Cutrera , Alessandro G. Fiocchi , Vincenzina Lucidi , Cornelis K. van der Ent , Jeffrey M. Beekman , Federico Alghisi , Fabiana Ciciriello

{"title":"Elexacaftor/tezacaftor/ivacaftor efficacy in intestinal organoids with rare CFTR variants in comparison to CFTR-F508del and CFTR-wild type controls","authors":"Suzanne Kroes , Marlou C. Bierlaagh , Juliet W. Lefferts , Alessandra Boni , Danya Muilwijk , Carla Viscomi , Natascha D.A. Keijzer-Nieuwenhuijze , Luca Cristiani , Paul J. Niemöller , Tibo F. Verburg , Renato Cutrera , Alessandro G. Fiocchi , Vincenzina Lucidi , Cornelis K. van der Ent , Jeffrey M. Beekman , Federico Alghisi , Fabiana Ciciriello","doi":"10.1016/j.jcf.2024.09.019","DOIUrl":"10.1016/j.jcf.2024.09.019","url":null,"abstract":"<div><div>Cystic fibrosis is a life-shortening genetic disease caused by pathological variants of the cystic fibrosis transmembrane conductance regulator gene. The CFTR modulator therapy elexacaftor, tezacaftor and ivacaftor (ETI) rescues CFTR protein function and has made a significant impact on the lives of many people with CF. In Europe, ETI is currently available for people with CF who have at least one F508del mutation whilst the effect of ETI on rare CFTR variants remains unknown, albeit that many of such variants may be restored through ETI. Italy has a high prevalence of rare CFTR variants compared to the rest of Europe, potentially leading to significant undertreatment of people with rare CFTR variants. In this study, we used patient-derived intestinal organoids to identify individuals harboring rare CFTR variants who might benefit from ETI modulator therapy. Two CFTR-dependent readouts (steady-state lumen area and forskolin-induced swelling) in intestinal organoids were characterized to assess CFTR function rescue upon ETI incubation. Functional restoration by CFTR modulators was compared to wild type CFTR function, ETI-treated organoids harboring genotypes currently eligible for ETI therapy (F508del/class I) and organoids harboring non-responsive genotypes. Our data showed in vitro response to ETI within or beyond the range of CFTR function associated with F508del-ETI in 19 out of 28 organoids. This suggest that a large percentage of people with rare CFTR variants without access to ETI may benefit from this treatment.</div></div>","PeriodicalId":15452,"journal":{"name":"Journal of Cystic Fibrosis","volume":"24 1","pages":"Pages 175-182"},"PeriodicalIF":5.4,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142620293","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}

引用次数: 0

Metabolic syndrome in the post-ETI era 后eti时代的代谢综合征。

IF 5.4 2区医学

Journal of Cystic Fibrosis Pub Date : 2025-01-01 DOI: 10.1016/j.jcf.2024.12.008

Marina Litvin MD

引用次数: 0

Assessing the impact of elexacaftor/tezacaftor/ivacaftor on anxiety & depression symptom scores in adults with Cystic Fibrosis 评估 elexacaftor/tezacaftor/ivacaftor 对囊性纤维化成人焦虑和抑郁症状评分的影响。

IF 5.4 2区医学

Journal of Cystic Fibrosis Pub Date : 2025-01-01 DOI: 10.1016/j.jcf.2024.07.008

Minh Nguyen , Pat MacDiarmid , April Tanzler , Renée Dagenais , Carolina Bevanda , Bradley S. Quon

引用次数: 0