Advances in respiratory medicine最新文献

{"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}

{"title":"Association Between Visceral Fat and Lung Function Impairment in Overweight and Grade I Obese Women: A Cross-Sectional Study.","authors":"Anamei Silva-Reis, Boris Brill, Maysa Alves Rodrigues Brandao-Rangel, Renilson Moraes-Ferreira, Dobroslav Melamed, Helida Cristina Aquino-Santos, Claudio Ricardo Frison, Regiane Albertini, Rodrigo Álvaro Brandao Lopes-Martins, Luís Vicente Franco de Oliveira, Gustavo Paixao-Santos, Carlos Rocha Oliveira, Asghar Abbasi, Rodolfo P Vieira","doi":"10.3390/arm92060048","DOIUrl":"10.3390/arm92060048","url":null,"abstract":"<p><p>Beyond the common comorbidities related to obesity, such as type 2 diabetes and cardiovascular diseases, impaired lung function is already known, but whether the fat distribution (sub-cutaneous, visceral) affects the lung function and pulmonary immune response are poorly known. Few evidence has shown that visceral fat is associated with insulin resistance, low-grade inflammation, and reduced lung function. In the present study, the body composition and fat distribution were evaluated by multi-frequency octopolar bioimpedance. This study demonstrated a possible association of increased visceral fat with impaired lung function in obesity grade I (n = 28; 45.46 ± 10.38 years old) women that was not observed in normal weight (n = 20; 43.20 ± 10.78 years old) and in overweight women (n = 30; 47.27 ± 10.25 years old). We also identified a negative correlation in FVC% (R² = 0.9129; <i>p</i> < 0.0236), FEV1% (R² = 0.1079; <i>p</i> < 0.0134), PEF% (R² = 0.1673; <i>p</i> < 0.0018), and VC IN% (R² = 0.1330; <i>p</i> < 0.0057) in the obesity grade I group, clearly demonstrating that higher levels of visceral fat correlate with reduced lung function, but not with sub-cutaneous fat. In addition, for the first time, a negative correlation among anti-fibrotic protein klotho (R² = 0.09298; <i>p</i> < 0.0897) and anti-inflammatory IL-10 (R² = 0.1653; <i>p</i> < 0.0487) in plasma was observed, in contrast to increased visceral fat. On the contrary, in breath condensate, a positive correlation for adiponectin (R² = 0.5665; <i>p</i> < 0.0120), IL1-Ra (R² = 0.2121; <i>p</i> < 0.0544), and IL1-Beta (R² = 0.3270; <i>p</i> < 0.0084) was found. Thus, increased visceral fat directly influences the impairment of lung function and the systemic and pulmonary immune response of women with obesity grade I.</p>","PeriodicalId":7391,"journal":{"name":"Advances in respiratory medicine","volume":"92 6","pages":"548-558"},"PeriodicalIF":1.8,"publicationDate":"2024-12-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11673606/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142891345","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":"Characterization of Serum Cytokine Patterns in Frequent-Exacerbation Asthma: Implications for Phenotyping and Management.","authors":"Dao Ngoc Bang, Pham Dac The, Pham Thi Kim Nhung, Nguyen Tien Dung, Bach Quoc Tuan, Vu Minh Duong, Le Thi Dieu Hien, Ta Ba Thang","doi":"10.3390/arm92060047","DOIUrl":"10.3390/arm92060047","url":null,"abstract":"<p><p>(1) Background: Asthma exacerbations represent significant clinical events, however, the underlying inflammatory mechanisms and cytokine profiles in patients with frequent exacerbations remain incompletely understood; (2) Methods: In this prospective, cross-sectional study of 120 stable asthma patients, we compared the serum concentrations of eight key cytokines (IL-4, IL-12, IL-13, IL-17, IFN-α, IFN-γ, TNF-α, and IL-1β) between two groups: 60 patients with frequent exacerbations (≥ 2 events per year) and 60 matched controls with few exacerbations (1 event per year); (3) Results: Patients with frequent exacerbations showed significantly higher serum concentrations of IL-4 and IL-13 (<i>p</i> < 0.05), along with an increased prevalence of allergic history and comorbidities (chronic rhinosinusitis, GERD, OSA; all <i>p</i> < 0.05). The IgE levels correlated positively with IFN-α (rh = 0.26) and TNF-α (rh = 0.29), while the FeNO levels correlated with IL-17 (rh = 0.26) and IL-1β (rh = 0.33) (all <i>p</i> < 0.05); (4) Conclusions: Our findings identify a distinct cytokine signature in frequent exacerbators characterized by elevated IL-4 and IL-13 levels. The correlations between specific cytokines and established biomarkers suggest potential mechanisms underlying exacerbation susceptibility, which may inform targeted therapeutic strategies for this high-risk population.</p>","PeriodicalId":7391,"journal":{"name":"Advances in respiratory medicine","volume":"92 6","pages":"538-547"},"PeriodicalIF":1.8,"publicationDate":"2024-12-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11673841/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142891346","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":"Prevalence and Clinical Implications of Pulmonary Vein Stenosis in Bronchiectasis: A 3D Reconstruction CT Study.","authors":"Xin Li, Yang Gu, Jinbai Miao, Ying Ji, Mingming Shao, Bin Hu","doi":"10.3390/arm92060046","DOIUrl":"10.3390/arm92060046","url":null,"abstract":"<p><strong>Background: </strong>Recent studies on bronchiectasis have revealed significant structural abnormalities and pathophysiological changes. However, there is limited research focused on pulmonary venous variability and congenital variation. Through our surgical observations, we noted that coarctation of pulmonary veins and atrophied lung volume are relatively common in bronchiectasis patients. Therefore, we conducted a retrospective study to explore pulmonary venous variation and secondary manifestations in bronchiectasis cases, utilizing 3D reconstruction software (Mimics Innovation Suite 21.0, Materialise Dental, Leuven, Belgium) to draw conclusions supported by statistical evidence.</p><p><strong>Method: </strong>This retrospective study included patients with bronchiectasis and healthy individuals who underwent CT examinations at Beijing Chao-Yang Hospital between January 2017 and July 2023. Chest CT data were reconstructed using Materialise Mimics. Pulmonary veins and lung lobes were segmented from surrounding tissue based on an appropriate threshold determined by local grey values and image gradients. Subsequently, venous cross-sectional areas and lung volumes were measured for statistical analysis.</p><p><strong>Result: </strong>CT data from 174 inpatients with bronchiectasis and 75 cases from the health examination center were included. Three-dimensional reconstruction data revealed a significant reduction in cross-sectional areas of pulmonary veins in the left lower lobe (<i>p</i> < 0.001), the right lower lobe (<i>p</i> = 0.030), and the right middle lobe (<i>p</i> = 0.009) of bronchiectasis patients. Subgroup analyses indicated that approximately 73.5% of localized cases of the left lower lobe exhibited pulmonary vein stenosis, while in the diffuse group, this proportion was only 52.6%. Furthermore, the cross-sectional area of pulmonary veins had a gradually decreasing trend, based on a small sample. Lung function tests showed significant reductions in FEV1, FVC, and FEV1% in bronchiectasis patients, attributed to the loss of lung volume in the left lower lobe, which accounted for 60.9% of the included sample.</p><p><strong>Conclusions: </strong>Our recent findings suggest that pulmonary venous stenosis is a common variation in bronchiectasis and is often observed concurrently with reduced lung volume, particularly affecting the left lower lobe. Moreover, localized cases are more likely to suffer from pulmonary venous stenosis, with an ambiguous downtrend as the disease progresses. In conclusion, increased attention to pulmonary venous variation in bronchiectasis is warranted, and exploring new therapies to intervene in the early stages or alleviate obstruction may be beneficial.</p>","PeriodicalId":7391,"journal":{"name":"Advances in respiratory medicine","volume":"92 6","pages":"526-537"},"PeriodicalIF":1.8,"publicationDate":"2024-12-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11673734/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142891349","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":"Prospects for Treatment of Lung Cancer Using Activated Lymphocytes Combined with Other Anti-Cancer Modalities.","authors":"Anastasia Ganina, Manarbek Askarov, Larissa Kozina, Madina Karimova, Yerzhan Shayakhmetov, Perizat Mukhamedzhanova, Aigul Brimova, Daulet Berikbol, Elmira Chuvakova, Lina Zaripova, Abay Baigenzhin","doi":"10.3390/arm92060045","DOIUrl":"10.3390/arm92060045","url":null,"abstract":"<p><p>This review explores the significance and prospects of using diverse T-cell variants in the context of combined therapy for lung cancer treatment. Recently, there has been an increase in research focused on understanding the critical role of tumor-specific T lymphocytes and the potential benefits of autologous T-cell-based treatments for individuals with lung cancer. One promising approach involves intravenous administration of ex vivo-activated autologous lymphocytes to improve the immune status of patients with cancer. Investigations are also exploring the factors that influence the success of T-cell therapy and the methods used to stimulate them. Achieving a comprehensive understanding of the characteristics of activated lymphocytes and deciphering the mechanisms underlying their activation of innate anti-tumor immunity will pave the way for numerous clinical trials and the development of innovative strategies for cancer therapy like combined immunotherapy and radiation therapy.</p>","PeriodicalId":7391,"journal":{"name":"Advances in respiratory medicine","volume":"92 6","pages":"504-525"},"PeriodicalIF":1.8,"publicationDate":"2024-12-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11673795/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142891350","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":"Molecular Pathophysiology of Chronic Thromboembolic Pulmonary Hypertension: A Clinical Update from a Basic Research Perspective.","authors":"Leslie Marisol Gonzalez-Hermosillo, Guillermo Cueto-Robledo, Dulce Iliana Navarro-Vergara, Maria Berenice Torres-Rojas, Marisol García-Cesar, Oscar Pérez-Méndez, Galileo Escobedo","doi":"10.3390/arm92060044","DOIUrl":"10.3390/arm92060044","url":null,"abstract":"<p><p>Chronic thromboembolic pulmonary hypertension (CTEPH) is a rare but severe condition characterized by persistent obstruction and vascular remodeling in the pulmonary arteries following an acute pulmonary embolism (APE). Although APE is a significant risk factor, up to 25% of CTEPH cases occur without a history of APE or deep vein thrombosis, complicating the understanding of its pathogenesis. Herein, we carried out a narrative review discussing the mechanisms involved in CTEPH development, including fibrotic thrombus formation, pulmonary vascular remodeling, and abnormal angiogenesis, leading to elevated pulmonary vascular resistance and right heart failure. We also outlined how the disease's pathophysiology reveals both proximal and distal pulmonary artery obstruction, contributing to the development of pulmonary hypertension. We depicted the risk factors predicting CTEPH, including thrombotic history, hemostatic disorders, and certain medical conditions. We finally looked at the molecular mechanisms behind the role of endothelial dysfunction, gene expression alterations, and inflammatory processes in CTEPH progression and detection. Despite these insights, there is still a need for improved diagnostic tools, biomarkers, and therapeutic strategies to enhance early detection and management of CTEPH, ultimately aiming to reduce diagnostic delay and improve patient outcomes.</p>","PeriodicalId":7391,"journal":{"name":"Advances in respiratory medicine","volume":"92 6","pages":"485-503"},"PeriodicalIF":1.8,"publicationDate":"2024-11-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11673787/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142891348","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":"Association Between Weight-Adjusted Waist Index and Emphysema in Adults in the United States: A Cross-Sectional Study Involving 44,949 Participants.","authors":"Hui Cheng, Ziheng Yang, Jiateng Guo, Yukun Zu, Fan Li, Bo Zhao","doi":"10.3390/arm92060043","DOIUrl":"10.3390/arm92060043","url":null,"abstract":"<p><p><b>Background</b>: The relationship between obesity and respiratory diseases has been widely explored. In this context, the Weight-Adjusted Waist Index (WWI) has emerged as a novel metric for assessing visceral fat. This study aims to evaluate the association between WWI and the risk of emphysema in the U.S. population, by utilizing data from the 2001-2018 National Health and Nutrition Examination Survey (NHANES). <b>Methods</b>: A cross-sectional study was conducted using NHANES data from 2001 to 2018. Logistic regression models were applied to assess the relationship between WWI and emphysema risk. Interaction and subgroup analyses were performed to explore effect modifiers. <b>Results</b>: Our study included a total of 44,949 American adults. The results of the multivariable logistic regression analysis revealed an association between WWI and the incidence of emphysema. In the fully adjusted model, the probability of developing emphysema was 1.5 times higher in the group with WWI > 10.46 compared to those with WWI ≤ 10.46, with an odds ratio of [1.5 (1.1, 1.9), <i>p</i> = 0.003]. Subgroup analysis showed stronger associations among males, non-Hispanic Whites, and individuals with hypertension. Furthermore, we used a two-piece linear regression model and found a nonlinear association between WWI and emphysema, with a breakpoint at 12.5. <b>Conclusions</b>: Our findings indicate a significant association between WWI levels and emphysema. Larger-scale prospective studies are needed to further explore the role of WWI in emphysema.</p>","PeriodicalId":7391,"journal":{"name":"Advances in respiratory medicine","volume":"92 6","pages":"472-484"},"PeriodicalIF":1.8,"publicationDate":"2024-11-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11586996/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142708943","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":"Beneficial Impact of Vaccination Against SARS-CoV-2 on the Mental Health of IPF Patients.","authors":"Ioannis Tomos, Andriana I Papaioannou, Zoe I Daniil, Ilias E Dimeas, Paraskevi Kirgou, Athena Gogali, Konstantinos Tatsis, Ilias Papanikolaou, Vasilios Tzilas, Argyrios Tzouvelekis, Panayiota Tsiri, Paschalis Steiropoulos, Pachalis Ntolios, Areti Xyfteri, Katerina Antoniou, Emmanouil Symvoulakis, Aggeliki Haritou, Maria Maniati, Lykourgos Kolilekas, Elvira-Markella Antonogiannaki, Vasiliki Apollonatou, Maria Kallieri, Kostas Samaras, Stylianos Loukides, Anna Karakatsani, Demosthenes Bouros, Effrosyni Manali, Spyros Papiris","doi":"10.3390/arm92060042","DOIUrl":"10.3390/arm92060042","url":null,"abstract":"<p><p><b>Background</b>: Depression and anxiety represent significant comorbidities in idiopathic pulmonary fibrosis (IPF) patients, affecting their quality of life. The COVID-19 pandemic has had an uneven impact on global mental health. The Hospital Anxiety and Depression Scale (HADS) constitutes a validated tool to identify anxiety disorders and depression. The aim of this multicentre study was to evaluate the effect of COVID-19 vaccination on depression and anxiety in IPF patients. <b>Methods</b>: Consecutive IPF patients (median 73.5 years) who are regularly followed-up with were included in the study. Demographics, functional, and clinical were recorded. The HADS score was calculated before and one month after vaccination against COVID-19 in all participants. A Wilcoxon signed ranks test was conducted. <b>Results</b>: A total of 180 IPF patients (median 73.5 years) were included in the study. Among them, 145 patients (81%) received antifibrotic treatment. A significant reduction in HADS, both in anxiety and depression scales, was observed one month after vaccination against SARS-COV-2), independent of age, smoking, lung function impairment, and prior history of depression (<i>p</i> < 0.01). <b>Conclusions</b>: A higher Hospital Anxiety and Depression Scale score was detected before vaccination against COVID-19. It seems that vaccination also offered a beneficial effect on depression and anxiety in IPF patients, independent of age, smoking, lung function impairment, and prior history of depression.</p>","PeriodicalId":7391,"journal":{"name":"Advances in respiratory medicine","volume":"92 6","pages":"466-471"},"PeriodicalIF":1.8,"publicationDate":"2024-11-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11586964/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142708893","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":"2024 Update on Position Statement by Experts from the Polish Society of Allergology and the Polish Respiratory Society on the Evaluation of Efficacy and Effectiveness of Single Inhaler Triple Therapies in Asthma Treatment.","authors":"Paweł Śliwiński, Adam Antczak, Adam Barczyk, Adam J Białas, Małgorzata Czajkowska-Malinowska, Karina Jahnz-Różyk, Marek Kulus, Piotr Kuna, Maciej Kupczyk","doi":"10.3390/arm92060041","DOIUrl":"10.3390/arm92060041","url":null,"abstract":"<p><p>Medication non-adherence remains a substantial obstacle in asthma care, prompting the exploration of novel therapeutic modalities that prioritize rapid symptom relief, anti-inflammatory activity, and facilitate patients' compliance. This task is well-served by the following new form of therapy: inhaled triple-combination medications ICS/LABA/LAMA (inhaled glucocorticosteroid/long-acting beta2-agonist/long-acting muscarinic antagonist). The integration of three medications within a singular inhalation device culminates in the reduction of the effective dose of the principal therapeutic agent for asthma management, namely ICS. This consolidation yields a dual benefit of minimizing the likelihood of adverse effects typically linked with ICS while concurrently optimizing bronchodilator efficacy. The accumulated evidence suggests that adding LAMA to a medium- or high-dose ICS/LABA results in a decrease of asthma exacerbations compared to medium- or high-dose ICS/LABA alone, accompanied by sustained enhancements in lung function parameters. In adult patients experiencing suboptimal asthma control despite medium/high-dose ICS/LABA treatment-regardless of adherence to GINA-recommended strategies, such as MART therapy as a first-line approach, or alternative second-line strategies-we propose that the preferred course for intensifying asthma therapy involves the addition of a LAMA, ideally in the form of SITT.</p>","PeriodicalId":7391,"journal":{"name":"Advances in respiratory medicine","volume":"92 6","pages":"452-465"},"PeriodicalIF":1.8,"publicationDate":"2024-10-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11587102/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142708903","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":"Application of Forced Oscillation Technique in Assessing Pulmonary Fibrosis in Hermansky-Pudlak Syndrome.","authors":"Wilfredo De Jesús-Rojas, Luis Reyes-Peña, José Muñiz-Hernandez, Rolando Mena-Ventura, Gabriel Camareno-Soto, Gabriel Rosario-Ortiz, Marcos J Ramos-Benitez, Monica Egozcue-Dionisi, Enid Rivera-Jimenez, Rosa Román-Carlo","doi":"10.3390/arm92060040","DOIUrl":"10.3390/arm92060040","url":null,"abstract":"<p><p>Hermansky-Pudlak syndrome (HPS) is a rare autosomal recessive disorder characterized by defects in lysosome-related organelles. Given the high mortality rate associated with HPS pulmonary fibrosis (PF) and the significant risks tied to lung transplantation, it is essential to explore new tools for the early surveillance of PF to monitor its progression before clinical symptoms become apparent. This study evaluates the forced oscillation technique (FOT) for assessing PF in five adult patients with HPS, all homozygous for the <i>HPS-1</i> (c.1472_1487dup p.His497Glnfs*90) founder mutation. Using the Resmon™ Pro V3 device, the FOT measured resistance (Rrs) and reactance (Xrs) at 5, 11, and 19 Hertz (Hz). High-resolution computed tomography (HRCT) scans of the chest were reviewed for radiographic findings. The cohort (<i>n</i> = 5) had a median age of 43 years. All patients exhibited HPS clinical features, including oculocutaneous albinism and respiratory symptoms such as dry cough and dyspnea. Radiographic analysis revealed PF in four patients (80%), with traction bronchiectasis, reticular patterns, honeycombing, and ground-glass opacities. The FOT detected progressive changes in pulmonary resistance and reactance correlating with fibrosis severity. These findings suggest that the FOT is a valuable non-invasive tool for monitoring PF in patients with HPS-1, potentially improving early diagnosis and management.</p>","PeriodicalId":7391,"journal":{"name":"Advances in respiratory medicine","volume":"92 6","pages":"444-451"},"PeriodicalIF":1.8,"publicationDate":"2024-10-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11587036/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142708933","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}