Advances in respiratory medicine最新文献

{"title":"Changes in Lung Ultrasound in Systemic Sclerosis Before and After Rehabilitation: A Comparative Study Between People with and Without Interstitial Lung Disease.","authors":"Samantha Gomes de Alegria, Matheus Mello da Silva, Jéssica Gabriela Messias Oliveira, Beatriz Luiza Pinheiro Alves de Azevedo, Nathália Alves de Oliveira Saraiva, Isabelle da Nóbrega Ferreira, Joana Acar Silva, Thiago Thomaz Mafort, Cláudia Henrique da Costa, Agnaldo José Lopes","doi":"10.3390/arm93030009","DOIUrl":"10.3390/arm93030009","url":null,"abstract":"<p><p>There is limited research on the impact of a physiotherapy-guided rehabilitation program (PGRP) on lung structure in systemic sclerosis (SSc). Lung ultrasound (LUS) has been used for over a decade to identify interstitial lung disease associated with SSc (SSc-ILD). This study aims to evaluate the impact of a PGRP on LUS signals in women with SSc-ILD and women without ILD (SSc-wILD). This is a longitudinal quasi-experimental study that included 33 women with SSc. The results show that changes in LUS were observed in 22 participants, especially B-lines > two. Before the PGRP the median of B-lines > two was three (0-7), while after the PGRP it was three (0-6) (<i>p</i> = 0.020). The aeration score was eight (0-16.5) pre-PGRP and three (0-16) post-PGRP (<i>p</i> = 0.013). Analyzing the impact of the PGRP on LUS signals in SSc-ILD and SSc-wILD groups, the main change observed was a reduction in B-lines > two between pre-PGRP and post-PGRP in the SSc-ILD group (<i>p</i> = 0.0004). The SSc-ILD group had a higher aeration score than the SSc-wILD group both pre-PGRP (<i>p</i> < 0.0001) and post-PGRP (<i>p</i> = 0.0001)]. In conclusion, LUS may be a complementary tool for assessing pre- and post-PGRP changes in people with SSc-ILD and SSc-wILD. Our data also suggest that the PGRP can elicit measurable changes in LUS findings in SSc, particularly in SSc-ILD. These findings support the inclusion of LUS in the routine monitoring of SSc and the use of a PGRP as a non-pharmacologic adjunctive strategy in SSc.</p>","PeriodicalId":7391,"journal":{"name":"Advances in respiratory medicine","volume":"93 3","pages":""},"PeriodicalIF":1.8,"publicationDate":"2025-05-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12101247/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144126489","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Mobile Phone-Mediated Interventions to Improve Adherence to Prescribed Treatment in Chronic Obstructive Pulmonary Disease: A Systematic Review.","authors":"Andrea Paleo, Catalina Carretta, Francisca Pinto, Estefanno Saltori, Joaquín González Aroca, Álvaro Puelles","doi":"10.3390/arm93020008","DOIUrl":"https://doi.org/10.3390/arm93020008","url":null,"abstract":"<p><p>Chronic Obstructive Pulmonary Disease (COPD) is a progressive respiratory disorder that poses significant challenges in treatment adherence. This systematic review evaluates the effectiveness of mobile health (mHealth) interventions compared to conventional therapy in improving treatment adherence among COPD patients. A total of 13 randomized controlled trials and comparative cohort studies published up to July 2023 were included, analyzing interventions such as medication reminders and remote monitoring in adult COPD patients. Studies involving participants under 18 years of age or with severe comorbidities were excluded. This review identified 4688 records from MEDLINE, WEB OF SCIENCE, and SCOPUS. Of these, 13 studies met the inclusion criteria. The selection process was conducted by two independent reviewers, with discrepancies resolved by consensus with a third reviewer. The results showed that mHealth interventions improved treatment adherence in some studies, particularly in exercise and symptom monitoring; however, the evidence was inconsistent, and results varied across studies. This review concludes that mHealth interventions have the potential to improve adherence but higher-quality studies and more robust designs are needed to confirm these findings and support their clinical implementation.</p>","PeriodicalId":7391,"journal":{"name":"Advances in respiratory medicine","volume":"93 2","pages":""},"PeriodicalIF":1.8,"publicationDate":"2025-04-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12024033/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143951413","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Heterozygous <i>Men1</i>(+/T) Knockout Mice Do Not Develop Bronchopulmonary Neuroendocrine Hyperplasia or Neoplasia but Bronchial Adenocarcinoma.","authors":"Max B Albers, Ludger Fink, Jerena Manoharan, Caroline L Lopez, Carmen Bollmann, Detlef K Bartsch","doi":"10.3390/arm93020007","DOIUrl":"https://doi.org/10.3390/arm93020007","url":null,"abstract":"<p><strong>Introduction: </strong>Bronchopulmonary Neuroendocrine Neoplasms (NEN) occur in 2-7% of patients with multiple endocrine neoplasia type 1 (MEN1). Precursor lesions have been identified for MEN1-related pancreatic, duodenal, and gastric NEN. The aim of the current study using a MEN1 mouse model was to define the precursor lesions of bronchopulmonary NEN and evaluate the potential prophylactic antitumor effects of somatostatin analogues in a transgenic MEN1 mouse model.</p><p><strong>Methods: </strong>Fifteen mice, germline heterozygous for <i>Men1</i>(+/T), were treated with subcutaneous injections of lanreotide autogel (Somatuline Autogel^®, IPSEN Pharma), while 15 mice were treated with subcutaneous injections of physiologic sodium chloride as the control group. Five mice from each group were euthanized after 12, 15, and 18 months, respectively. The complete lungs were resected and evaluated after hematoxylin and eosin staining and immunohistochemistry for synaptophysin and chromogranin A.</p><p><strong>Results: </strong>In the lungs of the 30 evaluated mice, whether treated or placebo treated, no bronchopulmonary neuroendocrine cell hyperplasia nor neuroendocrine neoplasia was detected through histopathology. However, pulmonary adenocarcinoma developed in 2 (13%) of the 15 untreated mice and in 1 (7%) of the 15 lanreotide-treated mice.</p><p><strong>Conclusions: </strong>Heterozygous <i>Men1</i>(+/T) knockout mice do not develop bronchopulmonary NEN or precursor lesions, but pulmonary adenocarcinoma. This surprising result needs to be investigated in more detail.</p>","PeriodicalId":7391,"journal":{"name":"Advances in respiratory medicine","volume":"93 2","pages":""},"PeriodicalIF":1.8,"publicationDate":"2025-03-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12024158/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143964588","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"The Impact of Corticosteroids on Mortality in Acute Exacerbations of Idiopathic Pulmonary Fibrosis: A Meta-Analysis.","authors":"Pier-Valerio Mari, Angelo Coppola, Lorenzo Carriera, Francesco Macagno","doi":"10.3390/arm93020006","DOIUrl":"https://doi.org/10.3390/arm93020006","url":null,"abstract":"<p><p><b>Background</b>: Acute exacerbation (AE) of idiopathic pulmonary fibrosis (IPF) is one of the most challenging events in the disease course due to the high mortality despite treatment. The role of corticosteroid treatment in AE-IPF has never been defined, even though it is used in current clinical practice. We performed a meta-analysis to determine the effects of steroid treatment on the acute exacerbation outcomes in idiopathic pulmonary fibrosis (IPF). <b>Objectives</b>: To evaluate the impact of steroids on mortality in patients affected by an acute exacerbation of IPF. <b>Methods</b>: This meta-analysis was performed in accordance with the PRISMA statement. A systemic literature search was conducted through Google Scholar, Scopus, WoS, PubMed, and JSTOR. Manuscripts from January 2014 to September 2024 were included in the analysis. Articles were included on whether participants had an acute exacerbation of IPF. Regarding the intervention performed, we evaluated the studies in which patients underwent treatment with corticosteroids. As outcomes, studies were included if they analyzed the overall mortality. <b>Results:</b> A total of 2156 records were initially identified. Nineteen studies (3277 patients) were ultimately included in the final analysis, comparing 1552 patients who received steroids to 1725 patients without steroids. Steroid treatment poses a higher risk, as suggested by the summary measures (RR of 1.78; CI 1.29-2.76, <i>p</i> = 0.00001). <b>Conclusions</b>: This meta-analysis investigated the debated role of corticosteroid treatment during acute exacerbation of idiopathic pulmonary fibrosis. Overall, steroid therapy is associated with increased risk. Clinicians should carefully weigh the risks and benefits of corticosteroid therapy in acute exacerbation of IPF.</p>","PeriodicalId":7391,"journal":{"name":"Advances in respiratory medicine","volume":"93 2","pages":""},"PeriodicalIF":1.8,"publicationDate":"2025-03-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12024352/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143959109","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Are There Differences in Postural Control and Muscular Activity in Individuals with COPD and with and Without Sarcopenia?","authors":"Walter Sepúlveda-Loyola, Alejandro Álvarez-Bustos, Juan José Valenzuela-Fuenzalida, Carla María Ordinola Ramírez, Carol Saldías Solis, Vanessa Suziane Probst","doi":"10.3390/arm93010005","DOIUrl":"10.3390/arm93010005","url":null,"abstract":"<p><strong>Aim: </strong>The aim of this study was to compare balance performance and electromyographic activity in individuals with COPD, with and without sarcopenia.</p><p><strong>Method: </strong>Thirty-five patients with COPD were classified with and without sarcopenia according to EWGSOP criteria. Balance was assessed using a force platform under four conditions: standing with feet apart and eyes opened (FHEO), eyes closed (FHEC), on an unstable surface (US), and on one leg (OLS). The surface electromyography activity of lower limb muscles and trunks was recorded. Additionally, the timed up and go test (TUG) and the Brief Balance Evaluation Systems Test (Brief-BESTest) were also utilized.</p><p><strong>Results: </strong>Under the FHEO, FHEC, and US conditions, individuals with sarcopenia demonstrated increased velocities, larger oscillation amplitudes, and greater center of pressure displacements under the US condition (<i>p</i> ≤ 0.02). They also showed a higher activation of the scalene, sternocleidomastoid, and abdominal muscles during OLS, along with a reduced activation of the tibialis anterior during OLS and US, and a decreased activation of the vastus medialis during FHEC and US (<i>p</i> ≤ 0.04). Furthermore, sarcopenic COPD patients exhibited poorer performance on the TUG and Brief-BESTest compared to their non-sarcopenic counterparts (<i>p</i> ≤ 0.02).</p><p><strong>Conclusions: </strong>Individuals with COPD and sarcopenia demonstrated greater instability in both bipedal stances and on unstable surfaces, as well as poorer performance in both dynamic and static balance assessments. Furthermore, these individuals exhibited reduced muscular activation in the lower limbs compared to those without sarcopenia.</p>","PeriodicalId":7391,"journal":{"name":"Advances in respiratory medicine","volume":"93 1","pages":""},"PeriodicalIF":1.8,"publicationDate":"2025-02-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11851567/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143490155","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"A Meta-Analysis of the Impact of Using Angiotensin-Converting Enzyme Inhibitors (ACEIs) or Angiotensin II Receptor Blockers (ARBs) on Mortality, Severity, and Healthcare Resource Utilization in Patients with COVID-19.","authors":"Ruijuan Li, Jie Zhang, Liang Ren","doi":"10.3390/arm93010004","DOIUrl":"10.3390/arm93010004","url":null,"abstract":"<p><strong>Objective: </strong>The primary objective of this study is to explore the potential link between the utilization of angiotensin-converting enzyme inhibitors (ACEIs) or angiotensin II receptor blockers (ARBs) and its impact on mortality, disease severity, and healthcare resource utilization in individuals diagnosed with COVID-19. We aim to establish a solid theoretical foundation for safe and effective clinical medications.</p><p><strong>Methods: </strong>We conducted a comprehensive search of various databases, including CNKI, PubMed, Science, Cell, Springer, Nature, Web of Science, and Embase. We also traced the literature of the included studies to ensure a thorough analysis of the available evidence. After applying a set of inclusion and exclusion criteria, we ultimately included a total of 41 articles in our analysis. To determine the overall effect size for dichotomous variables, we used the Mantel-Haenszel odds ratio in random effect models. For continuous variables, we calculated the inverse variance SMD using random effect models. To assess the outcomes and heterogeneity, we considered <i>p</i>-values (<i>p</i> < 0.05) and I² values for all outcomes. We performed multivariate and univariate meta-regression analyses using the maximum likelihood approach with the CMA 3.0 software.</p><p><strong>Results: </strong>The results of our analysis indicated that the use of ACEIs or ARBs did not significantly influence mortality (OR = 1.10, 95% CI 0.83-1.46, <i>p</i> = 0.43, I² = 84%), severity (OR = 0.99, 95% CI 0.68-1.45, <i>p</i> = 0.98, I² = 84%), or healthcare resource utilization (SMD = 0.03, 95% CI 0.06-0.12, <i>p</i> = 0.54, I² = 37%) in patients with COVID-19 compared to those not taking ACEIs or ARBs. The multivariate meta-regression analysis model explained 63%, 31%, and 100% of the sources of heterogeneity for the three outcome indicators.</p><p><strong>Conclusions: </strong>The use of ACEIs and ARBs is not significantly correlated with mortality, severity, or healthcare resource utilization in patients with COVID-19, indicating safe clinical use of the medications.</p>","PeriodicalId":7391,"journal":{"name":"Advances in respiratory medicine","volume":"93 1","pages":""},"PeriodicalIF":1.8,"publicationDate":"2025-02-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11852372/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143490154","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Prospective, Open-Label, Observational, Multicenter, Single Arm, Post-Marketing Study in Asthmatic Patients for Evaluation of Safety and Effectiveness of Indacaterol/Mometasone DPI (PROMISING-SHIFT).","authors":"Saurabh Karmakar, Gajendra V Singh, Amit S Bhate, Vijaykumar Barge, Bharat Mehrotra, Chintan Patel, Ekta Sinha, Sagar Bhagat, Saiprasad Patil, Hanmant Barkate","doi":"10.3390/arm93010003","DOIUrl":"10.3390/arm93010003","url":null,"abstract":"<p><strong>Background: </strong>Asthma significantly impacts global health, necessitating effective management strategies. A combination of inhaled corticosteroids (ICSs) and long-acting β2-agonists (LABA) is recommended for patients with inadequately controlled asthma.</p><p><strong>Method: </strong>This prospective, open-label, multicenter study (PROMISING-SHIFT) study evaluated the safety and efficacy of once-daily Indacaterol/Mometasone (IND/MF) dry powder inhaler (DPI) in Indian asthma patients (≥12 years), inadequately controlled with prior therapies. Patients received IND/MF DPI in three strengths (150/80 mcg, 150/160 mcg, 150/320 mcg) over 12 weeks.</p><p><strong>Results: </strong>The study included a total of 174 participants, and 27 adverse events (AEs) in 25 patients (14.37%) were reported, primarily mild to moderate, with no serious adverse events (SAEs). Drug-related treatment-emergent adverse events (TEAEs) were observed in 11 patients. Significant improvements were noted in the mean trough FEV1 and FVC, increasing from baseline to week 4 and week 12 (<i>p</i> < 0.001). The mean ACQ-5 score significantly decreased from 3.0 ± 0.73 baseline to 2.50 ± 0.53 (16.67%) at week 4 and further to 1.73 ± 0.35 at week 12, along with reduced exacerbations (<i>p</i> < 0.001). The need for rescue medication declined from 13.79% to 8.62%, and 96.55% of patients reported treatment satisfaction by study completion.</p><p><strong>Conclusion: </strong>Once-daily IND/MF DPI demonstrated a favorable safety profile with marked improvements in lung function, asthma control, and patient satisfaction, making it a promising option for long-term asthma management in Indian patients.</p>","PeriodicalId":7391,"journal":{"name":"Advances in respiratory medicine","volume":"93 1","pages":""},"PeriodicalIF":1.8,"publicationDate":"2025-02-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11852356/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143490104","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"The Role of Impulse Oscillometry in Detection of Preserved Ratio Impaired Spirometry (PRISm).","authors":"Chalerm Liwsrisakun, Warawut Chaiwong, Athavudh Deesomchok, Pilaiporn Duangjit, Chaicharn Pothirat","doi":"10.3390/arm93010002","DOIUrl":"10.3390/arm93010002","url":null,"abstract":"<p><strong>Background: </strong>Information is limited regarding the role of impulse oscillometry (IOS) for the detection of preserved ratio impaired spirometry (PRISm). Therefore, we aimed to study the diagnostic ability of IOS in differentiating between PRISm and healthy subjects.</p><p><strong>Methods: </strong>This retrospective data collection was done at the Lung Health Center, Faculty of Medicine, Chiang Mai University, Thailand between July 2019 and April 2022. The potential diagnostic possibilities of difference in resistance at 5 Hz (R5) and resistance at 20 Hz (R20) (R5-R20) for PRISm detection were analyzed.</p><p><strong>Results: </strong>The prevalence of PRISm was higher when using the fixed ratio (FR) criteria (FEV₁/FVC ≥0.7 with FEV₁ < 80% of predicted value) compared to the lower limit of normal (LLN) criteria (FEV₁/FVC ≥ LLN and FEV₁ < LLN) (10.0% vs. 4.2%). The %prediction for R5-R20 provided an acceptable area under the curve (AUC) for PRISm, defined by the LLN and the FR criteria (AuROC = 0.75 (95%CI; 0.64, 0.85) and 0.72 (95%CI; 0.63, 0.81), respectively). The cut-off value of %predicted R5-R20 ≥120% resulted in the highest sensitivity and specificity for detecting PRISm.</p><p><strong>Conclusions: </strong>The %predicted of R5-R20 ≥ 120% showed an acceptable performance for PRISm detection and PRISm may be detected by IOS.</p>","PeriodicalId":7391,"journal":{"name":"Advances in respiratory medicine","volume":"93 1","pages":""},"PeriodicalIF":1.8,"publicationDate":"2025-01-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11851355/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143490136","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Evaluating the Effect of Body Mass Index on Procalcitonin Level in Patients with Pneumonia: A Retrospective Cross-Sectional Study.","authors":"Mohammad Z Khrais, J Curran Henson, Jake Smith, Nikhil Meena","doi":"10.3390/arm93010001","DOIUrl":"10.3390/arm93010001","url":null,"abstract":"<p><p>Procalcitonin (PCT) is commonly used to evaluate the etiology and severity of pneumonia. PCT has been shown to be elevated at baseline in patients with obesity. The aim of this study is to determine if body mass index (BMI) has an influence on admission PCT level in patients admitted to the hospital with a diagnosis of pneumonia. We conducted a retrospective cohort study that encompassed patient visits to a tertiary care center from 2014 until September 2023. A total of 18,652 patients presented to the emergency department with a diagnosis of pneumonia. A total of 3659 were admitted to the floor, and 2246 were admitted to the MICU. Patients were grouped based on admission BMI into five categories. The Kruskal-Wallis test performed on patients admitted to the floor revealed a statistically significant difference in PCT levels among groups of different BMIs (H = 34.97, df = 4, <i>p</i> < 0.001). In patients admitted to the MICU, the Kruskal-Wallis test revealed a significant difference in PCT levels among groups of different BMIs (H = 32.92, df = 4, <i>p</i> < 0.001). BMI has a statistically significant effect on PCT in patients admitted to the hospital with pneumonia. Patients with higher BMI may exhibit less robust PCT levels, which may impact management decisions.</p>","PeriodicalId":7391,"journal":{"name":"Advances in respiratory medicine","volume":"93 1","pages":""},"PeriodicalIF":1.8,"publicationDate":"2025-01-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11851394/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143490165","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Successful Therapy over 12 Months of People with Cystic Fibrosis with Rare Non-phe508del Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) Mutations with Elexacaftor/Tezacaftor/Ivacaftor (ETI).","authors":"Tomke Sütering, Sebastian F N Bode, Rainald Fischer, Dorit Fabricius","doi":"10.3390/arm92060049","DOIUrl":"10.3390/arm92060049","url":null,"abstract":"<p><p><b>Background:</b> Elexacaftor/Tezacaftor/Ivacaftor (ETI) is a CFTR modulator therapy approved for people with cystic fibrosis (pwCF) who have at least one phe508del mutation. However, its approval in the European Union (EU) for pwCF with non-phe508del mutations is lacking, because data on treatment response in this subgroup are scarce. <b>Methods:</b> This retrospective observational study evaluated six pwCF (ages 6 to 66) with responsive CFTR mutations (M1101K, R347P, 2789+5G>A, G551D) undergoing off-label ETI therapy. Evaluations were conducted at 0, 3, 6, 9, and 12 months, assessing lung function (FEV₁), sweat chloride levels, body mass index (BMI), quality of life, medication satisfaction, ear, nose and throat (ENT) symptoms, and physical activity. A control group of four pwCF with classic symptoms and no ETI treatment was included. <b>Results:</b> FEV₁ improved significantly after 3 and 6 months (<i>p</i> < 0.05) and stabilized by 12 months. Sweat chloride levels decreased significantly, with four pwCF achieving levels <60 mmol/L. Improvements in the upper and lower airway symptoms, medication satisfaction, and increased BMI were noted. <b>Conclusions:</b> ETI demonstrates high efficacy in this small group of pwCF with rare CFTR mutations, offering a treatment option that warrants further monitoring and evaluation.</p>","PeriodicalId":7391,"journal":{"name":"Advances in respiratory medicine","volume":"92 6","pages":"559-572"},"PeriodicalIF":1.8,"publicationDate":"2024-12-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11672886/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142891212","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}