Journal of Cystic Fibrosis最新文献

{"title":"From the editor's desk","authors":"Patrick A Flume (Editor in Chief)","doi":"10.1016/j.jcf.2025.02.017","DOIUrl":"10.1016/j.jcf.2025.02.017","url":null,"abstract":"","PeriodicalId":15452,"journal":{"name":"Journal of Cystic Fibrosis","volume":"24 2","pages":"Pages 205-211"},"PeriodicalIF":5.4,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143556913","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":"Letter in response to letter","authors":"Dr. Michael Schechter","doi":"10.1016/j.jcf.2025.03.014","DOIUrl":"10.1016/j.jcf.2025.03.014","url":null,"abstract":"","PeriodicalId":15452,"journal":{"name":"Journal of Cystic Fibrosis","volume":"24 2","pages":"Pages 427-428"},"PeriodicalIF":5.4,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143674106","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":"News article","authors":"","doi":"10.1016/j.jcf.2025.03.013","DOIUrl":"10.1016/j.jcf.2025.03.013","url":null,"abstract":"","PeriodicalId":15452,"journal":{"name":"Journal of Cystic Fibrosis","volume":"24 2","pages":"Pages 203-204"},"PeriodicalIF":5.4,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143704188","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":"Characterization of 223 infants with CFTR-related metabolic syndrome/Cystic fibrosis screen positive, inconclusive diagnosis (CRMS/CFSPID) identified during the first three years of newborn screening via IRT-DNA-SEQ in New York State","authors":"Hossein Sadeghi ,&nbsp;Denise M. Kay ,&nbsp;Elinor Langfelder-Schwind ,&nbsp;Joan K DeCelie-Germana ,&nbsp;Maria Berdella ,&nbsp;Zafer N Soultan ,&nbsp;Danielle M Goetz ,&nbsp;Michele Caggana ,&nbsp;Christopher N Fortner ,&nbsp;Robert Giusti ,&nbsp;Robert Kaslovsky ,&nbsp;Colleen Stevens ,&nbsp;Norma Tavakoli ,&nbsp;Karen Voter ,&nbsp;John J. Welter ,&nbsp;Catherine Kier ,&nbsp;New York State Cystic Fibrosis Newborn Screening Consortium","doi":"10.1016/j.jcf.2024.10.015","DOIUrl":"10.1016/j.jcf.2024.10.015","url":null,"abstract":"<div><h3>Background</h3><div>New York State implemented <em>CFTR</em> gene sequencing into the Cystic Fibrosis newborn screening (CF NBS) algorithm on 12/1/2017 to reduce false positive screens. With addition of sequencing, infants with 2 <em>CFTR</em> variants but low or intermediate sweat chloride levels classified as CFTR-related metabolic syndrome/CF screen-positive, inconclusive diagnosis (CRMS/CFSPID) are identified at a higher frequency, posing challenges to clinicians and families.</div></div><div><h3>Methods</h3><div>Data from 375 screen-positive newborns between 12/1/2017 and 11/30/2020 were analyzed. We summarized 1–3 years of clinical follow-up for babies with CRMS/CFSPID following implementation of the IRT-DNA-SEQ algorithm.</div></div><div><h3>Results</h3><div>Among 375 newborns referred, 223 (59.5 %) were classified as CRMS/CFSPID. Overall, 195/223 (87.4 %) had a CF-causing/pathogenic/likely pathogenic <em>CFTR</em> variant and a variant of varying clinical consequence (VCC) or uncertain significance (VUS). The most common VCC or VUS was 5T-12TG [<em>n</em> = 90/223 (40 %)]. All initial and repeat sweat chloride test (SCT) values for this cohort were &lt;60 mmol/L after 1–3 years follow-up. Ninety-nine infants had ≥1 repeat SCT. Forty-two (18.8 %) had ≥1 SCT in the intermediate range (30–59 mmol/L) and 181 (81.2 %) were &lt;30 mmol/L. Twenty-nine infants had sweat chloride increasing ≥5 mmol/L per year (29.3 % of infants with repeat testing). Fecal elastase was reported for 114/223 infants; none were abnormal. There were no conversions to CF during the 3-year follow-up period, however 2 infants have subsequently converted with diagnostic SCTs.</div></div><div><h3>Conclusions</h3><div>The New York experience may help inform updates to clinical guidelines, which are needed to optimize care, management, counseling, and long-term follow-up of infants and children with CRMS/CFSPID.</div></div>","PeriodicalId":15452,"journal":{"name":"Journal of Cystic Fibrosis","volume":"24 2","pages":"Pages 404-411"},"PeriodicalIF":5.4,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142619668","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":"Daily variability of Pseudomonas aeruginosa density in cystic fibrosis sputum","authors":"Lisa A. Carmody ,&nbsp;Lindsay J. Caverly ,&nbsp;Linda M. Kalikin ,&nbsp;Christina S. Thornton ,&nbsp;Richard H. Simon ,&nbsp;Donald R. VanDevanter ,&nbsp;John J. LiPuma","doi":"10.1016/j.jcf.2024.11.013","DOIUrl":"10.1016/j.jcf.2024.11.013","url":null,"abstract":"<div><div>Treatment-associated differences in <em>Pseudomonas aeruginosa</em> (<em>Pa</em>) density in sputum have been used as a response biomarker in clinical trials of cystic fibrosis (CF) therapies. Although most studies have included placebo-treated groups as comparators, variability of <em>Pa</em> density in untreated individuals has rarely been reported. We measured day-to-day differences in <em>Pa</em> density in 267 sputum sample pairs collected from 13 adults with CF during days in which no changes in antibiotic therapy occurred. Although the mean sputum <em>Pa</em> density change across all sample pairs was modest (–0.09 log₁₀ 16S rRNA gene copies/mL), variability in day-to-day changes were substantial (SD = 1.09) with one-quarter of sample pairs having &gt;1 log₁₀ differences in <em>Pa</em> density; approximately 8 % of pairs had &gt;2 log₁₀ differences in density. Day-to-day variability in <em>Pa</em> density differed substantially between study participants (p = .001). These results will support the design and interpretation of studies using sputum <em>Pa</em> density change as an efficacy biomarker.</div></div>","PeriodicalId":15452,"journal":{"name":"Journal of Cystic Fibrosis","volume":"24 2","pages":"Pages 341-344"},"PeriodicalIF":5.4,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142769462","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":"Addressing pain in people living with cystic fibrosis: Cystic fibrosis foundation evidence-informed guidelines","authors":"EP Dellon ,&nbsp;G Allada ,&nbsp;SJ Allgood ,&nbsp;AM Georgiopoulos ,&nbsp;JL Goggin ,&nbsp;D Hadjiliadis ,&nbsp;JD Lowman ,&nbsp;S Madge ,&nbsp;B Middour-Oxler ,&nbsp;C Muirhead ,&nbsp;M Noel ,&nbsp;P Wilson ,&nbsp;SE Hempstead ,&nbsp;A Faro ,&nbsp;D Kavalieratos","doi":"10.1016/j.jcf.2024.11.012","DOIUrl":"10.1016/j.jcf.2024.11.012","url":null,"abstract":"<div><div>Even as many outcomes for people living with cystic fibrosis (PLwCF) improve, individuals still experience extensive symptom burdens. From birth, many PLwCF experience both pain as a symptom of their CF disease and procedural pain, posing detriments to health, functioning, and quality of life. Despite its prevalence and impact, there is no CF-specific guidance for the assessment and management of pain. Similarly, no guidance exists regarding communication with PLwCF about their pain experiences or its impact on their lives. Therefore, the Cystic Fibrosis Foundation (CFF) assembled an expert panel of clinicians, researchers, PLwCF, and caregivers to develop consensus recommendations for pain management in CF. We utilized literature review and expert opinion to develop 13 recommendations addressing pain assessment, management, and communication. Recommendations are centered on guiding principles of utilizing a multimodal approach to pain management, offering age and developmentally appropriate assessment and interventions, concurrently treating underlying conditions causing, contributing to, and/or exacerbated by pain, considering societal stigma of the pain experience, particularly for minoritized and marginalized people, and sensitivity to issues of access and cost. These recommendations are intended to guide clinicians in managing pain and improving quality of life for PLwCF with pain at all stages of illness and development.</div></div>","PeriodicalId":15452,"journal":{"name":"Journal of Cystic Fibrosis","volume":"24 2","pages":"Pages 224-235"},"PeriodicalIF":5.4,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142791733","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":"The fungal diversity in the lungs of children with cystic fibrosis captured by sputum-induction and bronchoalveolar lavage","authors":"Rebecca Weiser ,&nbsp;Katherine Ronchetti ,&nbsp;Jo-Dee Tame ,&nbsp;Sven Hoehn ,&nbsp;Tomasz P. Jurkowski ,&nbsp;Eshwar Mahenthiralingam ,&nbsp;Julian T. Forton","doi":"10.1016/j.jcf.2024.07.011","DOIUrl":"10.1016/j.jcf.2024.07.011","url":null,"abstract":"<div><h3>Background</h3><div>The prevalence of fungi in cystic fibrosis (CF) lung infections is poorly understood and studies have focused on adult patients. We investigated the fungal diversity in children with CF using bronchoalveolar lavage (BAL) and induced sputum (IS) samples to capture multiple lung niches.</div></div><div><h3>Methods</h3><div>Sequencing of the fungal ITS2 region and molecular mycobiota diversity analysis was performed on 25 matched sets of BAL-IS samples from 23 children collected as part of the CF-SpIT study (UKCRN14615; ISRCTNR12473810).</div></div><div><h3>Results</h3><div><em>Aspergillus</em> and <em>Candida</em> were detected in all samples and were the most abundant and prevalent genera, followed by <em>Dipodascus, Lecanicillium</em> and <em>Simplicillium.</em> The presumptive CF pathogens <em>Exophiala, Lomentospora</em> and <em>Scedosporium</em> were identified at variable abundances in 100 %, 64 %, and 24 % of sample sets, respectively. Fungal pathogens observed at high relative abundance (≥40 %) were not accurately diagnosed by routine culture microbiology in over 50 % of the cohort. The fungal communities captured by BAL and IS samples were similar in diversity and composition, with exception to <em>C. albicans</em> being significantly increased in IS samples. The respiratory mycobiota varied greatly between individuals, with only 13 of 25 sample sets containing a dominant fungal taxon. In 11/25 BAL sample sets, airway compartmentalisation was observed with diverse mycobiota detected from different lobes of the lung.</div></div><div><h3>Conclusions</h3><div>The paediatric mycobiota is diverse, complex and inadequately diagnosed by conventional microbiology. Overlapping fungal communities were identified in BAL and IS samples, showing that IS can capture fungal genera associated with the lower airway. Compartmentalisation of the lower airway presents difficulties for consistent mycobiota sampling.</div></div>","PeriodicalId":15452,"journal":{"name":"Journal of Cystic Fibrosis","volume":"24 2","pages":"Pages 382-389"},"PeriodicalIF":5.4,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141878756","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":"Mycobacterium abscessus biofilm cleared from murine lung by monoclonal antibody against bacterial DNABII proteins","authors":"Joseph A. Jurcisek ,&nbsp;Nikola Kurbatfinski ,&nbsp;Kathryn Q. Wilbanks ,&nbsp;Jaime D. Rhodes ,&nbsp;Steven D. Goodman ,&nbsp;Lauren O. Bakaletz","doi":"10.1016/j.jcf.2025.01.013","DOIUrl":"10.1016/j.jcf.2025.01.013","url":null,"abstract":"<div><h3>Background</h3><div>Pulmonary infections with multidrug-resistant nontuberculous mycobacteria (NTM), particularly <em>Mycobacterium abscessus</em> (MAB), are increasingly more prevalent in individuals with lung disease such as cystic fibrosis and are extremely difficult to treat. Protracted antibiotic therapies consist of multidrug regimens that last for months to years. Despite these intense protocols, failure rates are high with 50%-60% of patients not achieving a sustained culture-negative status. A major contributor to the difficult medical management of NTM infections is formation of pulmonary aggregate MAB biofilms which protect the resident bacteria from antimicrobials and host immune effectors. Thereby, novel and more effective approaches to combat recalcitrant NTM infections are urgently needed.</div></div><div><h3>Methods</h3><div>We developed an epitope-targeted monoclonal antibody-based technology to rapidly disrupt biofilms and release resident bacteria into a transient yet highly vulnerable phenotype that is significantly more sensitive to killing by both antibiotics and host innate immune effectors (e.g., PMNs and antimicrobial peptides). Herein, we tested this technology in a pre-clinical murine lung infection model to determine whether this treatment would mediate clearance of MAB from the lungs and speed return to homeostasis.</div></div><div><h3>Results</h3><div>As early as 48 h after a single treatment, bacterial loads were reduced to below the level of detection and histopathologic analysis showed markedly decreased inflammation and rapid eradication of aggregate biofilms compared to controls.</div></div><div><h3>Conclusions</h3><div>These new data add to those from multiple prior published studies which show the significant efficacy of this novel therapeutic approach to resolve recalcitrant bacterial biofilm diseases, now potentially including those induced by NTM.</div></div>","PeriodicalId":15452,"journal":{"name":"Journal of Cystic Fibrosis","volume":"24 2","pages":"Pages 374-381"},"PeriodicalIF":5.4,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143370820","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":"Cystic fibrosis year in review 2024","authors":"Amel Alameeri ,&nbsp;Burcu Capraz Yavuz ,&nbsp;Francesca Lucca ,&nbsp;Ivan Bambir ,&nbsp;Paulina Famulska ,&nbsp;Renata W․F․ Cohen","doi":"10.1016/j.jcf.2025.02.012","DOIUrl":"10.1016/j.jcf.2025.02.012","url":null,"abstract":"<div><div>The year 2024 marks a pivotal moment in the field of cystic fibrosis (CF) treatment, characterised by significant advancements in clinical care and an expanding body of literature on CF transmembrane conductance regulator (CFTR) modulators. These CFTR therapies have transformed the landscape of CF management, offered systemic benefits, and established new guidelines for assessing clinical manifestations and therapies. Additionally, progress has been made in newborn screening (NBS), diagnosis, and understanding outcomes for individuals with CF-related metabolic syndrome or inconclusive diagnostic results. However, amidst these clinical milestones, disparities in global access to CFTR modulators (CFTRm) persist, threatening to exacerbate existing inequities in CF care. This review provides a focused overview of the most impactful articles from 2024, highlighting both the clinical advancements and the pressing global accessibility challenges that define this transformative era in CF research and treatment.</div></div>","PeriodicalId":15452,"journal":{"name":"Journal of Cystic Fibrosis","volume":"24 2","pages":"Pages 218-223"},"PeriodicalIF":5.4,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143458256","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":"Associations between income level and health outcomes in people with cystic fibrosis in Turkey","authors":"Neval Metin Cakar ,&nbsp;Seyda Karabulut ,&nbsp;Mine Yuksel Kalyoncu ,&nbsp;Merve Selcuk Balcı ,&nbsp;Ceren Ayça Yıldız ,&nbsp;Damla Kocaman ,&nbsp;Burcu Uzunoglu ,&nbsp;Gamze Tastan ,&nbsp;Almala Pınar Ergenekon ,&nbsp;Ela Erdem Eralp ,&nbsp;Yasemin Gokdemir ,&nbsp;Fazilet Karakoc ,&nbsp;Bulent Karadag","doi":"10.1016/j.jcf.2024.10.010","DOIUrl":"10.1016/j.jcf.2024.10.010","url":null,"abstract":"<div><h3>Background</h3><div>Our study aimed to identify the social domains that pose the greatest barriers to managing and supporting pwCF, particularly in relation to income levels.</div></div><div><h3>Methods</h3><div>To identify associations between income and health outcomes in pwCF in our center the shorter form of the survey \"Your Current Life Situation\" (YCLS) was used in face-to-face interviews. Participants were also asked to complete the validated Turkish versions of the 9-item Patient Health Questionnaire (PHQ-9) and the 7-item Generalized Anxiety Disorder scale (GAD-7) to assess depression and anxiety, respectively.</div></div><div><h3>Results</h3><div>In total, 282 pwCF were included in this study. 51.1 % were female (<em>n</em> = 144), mean (±SD) age was 13.8 (±8.7) years and 75 % (<em>n</em> = 211) were &lt;18 years old. The median (IQR) values of pwCF; FEV_1pp (percent predictive) 83 % (41–97), BMI (body mass index) 17 <em>kg/m²</em> (15∼20), BMI z-score -0.1 (-1∼0.3). Of the pwCF in the study 89 % (<em>n</em> = 251) had an income below the poverty threshold and 21 % (<em>n</em> = 60) of them had an income below the hunger threshold. The results of YCLS survey showed that the highest level of insecurity was in the social domain (68.5 %, <em>n</em> = 193); this was followed by health and clinical care (62.1 %, <em>n</em> = 173), financial (37.9 %, <em>n</em> = 106), and food insecurity (37.2 %, <em>n</em> = 103). All individuals experiencing housing insecurity stated that they had requested help from local organisations.</div></div><div><h3>Conclusion</h3><div>The study highlights the substantial socioeconomic challenges faced by pwCF, a significant majority live below the poverty threshold and experience high levels of social and health insecurity, underscoring the need for comprehensive support systems to address these issues<strong>.</strong></div></div>","PeriodicalId":15452,"journal":{"name":"Journal of Cystic Fibrosis","volume":"24 2","pages":"Pages 295-300"},"PeriodicalIF":5.4,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142619666","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}